Gene Symbol	CHR	Start	end	Strand	Ensembl ID	Gene Type	Also Known As	Cytogenetic Region	Description	Summary
A1BG	chr19	58345178	58353499	-	ENSG00000121410.11	protein_coding	A1B|ABG|GAB|HYST2477	19q13.43	alpha-1-B glycoprotein	The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. [provided by RefSeq, Jul 2008]
A1BG-AS1	chr19	58347751	58355183	+	ENSG00000268895.5	antisense	A1BG-AS|A1BGAS|NCRNA00181	19q13.43	A1BG antisense RNA 1	Biased expression in liver (RPKM 106.5) and spleen (RPKM 1.9)
A1CF	chr10	50799409	50885675	-	ENSG00000148584.14	protein_coding	ACF|ACF64|ACF65|APOBEC1CF|ASP	10q11.23	APOBEC1 complementation factor	Mammalian apolipoprotein B mRNA undergoes site-specific C to U deamination, which is mediated by a multi-component enzyme complex containing a minimal core composed of APOBEC-1 and a complementation factor encoded by this gene. The gene product has three non-identical RNA recognition motifs and belongs to the hnRNP R family of RNA-binding proteins. It has been proposed that this complementation factor functions as an RNA-binding subunit and docks APOBEC-1 to deaminate the upstream cytidine. Studies suggest that the protein may also be involved in other RNA editing or RNA processing events. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
A2M	chr12	9067664	9116229	-	ENSG00000175899.14	protein_coding	A2MD|CPAMD5|FWP007|S863-7	12p13.31	alpha-2-macroglobulin	The protein encoded by this gene is a protease inhibitor and cytokine transporter. It uses a bait-and-trap mechanism to inhibit a broad spectrum of proteases, including trypsin, thrombin and collagenase. It can also inhibit inflammatory cytokines, and it thus disrupts inflammatory cascades. Mutations in this gene are a cause of alpha-2-macroglobulin deficiency. This gene is implicated in Alzheimers disease (AD) due to its ability to mediate the clearance and degradation of A-beta, the major component of beta-amyloid deposits. A related pseudogene, which is also located on the p arm of chromosome 12, has been identified. [provided by RefSeq, Nov 2016]
A2M-AS1	chr12	9065177	9068060	+	ENSG00000245105.2	antisense	-	12p13.31	A2M antisense RNA 1	-
A2ML1	chr12	8822472	8887001	+	ENSG00000166535.19	protein_coding	CPAMD9|OMS|p170	12p13.31	alpha-2-macroglobulin like 1	This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
A2ML1-AS1	chr12	8776219	8830947	-	ENSG00000256661.1	antisense	-	12p13.31	A2ML1 antisense RNA 1	-
A3GALT2	chr1	33306766	33321098	-	ENSG00000184389.9	protein_coding	A3GALT2P|IGB3S|IGBS3S	1p35.1	alpha 1,3-galactosyltransferase 2	Low expression observed in reference dataset
A4GALT	chr22	42692121	42721298	-	ENSG00000128274.15	protein_coding	A14GALT|A4GALT1|Gb3S|P(k)|P1|P1PK|PK	22q13.2	alpha 1,4-galactosyltransferase (P blood group)	The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. This protein, a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
AAAS	chr12	53307456	53324864	-	ENSG00000094914.12	protein_coding	AAA|AAASb|ADRACALA|ADRACALIN|ALADIN|GL003	12q13.13	aladin WD repeat nucleoporin	The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
AACS	chr12	125065379	125143333	+	ENSG00000081760.16	protein_coding	ACSF1|SUR-5	12q24.31	acetoacetyl-CoA synthetase	Ubiquitous expression in fat (RPKM 23.3), skin (RPKM 16.5) and 24 other tissues
AADAC	chr3	151814037	151828488	+	ENSG00000114771.13	protein_coding	CES5A1|DAC	3q25.1	arylacetamide deacetylase	Microsomal arylacetamide deacetylase competes against the activity of cytosolic arylamine N-acetyltransferase, which catalyzes one of the initial biotransformation pathways for arylamine and heterocyclic amine carcinogens [provided by RefSeq, Jul 2008]
AADACL4	chr1	12644547	12667086	+	ENSG00000204518.2	protein_coding	-	1p36.21	arylacetamide deacetylase like 4	-
AADAT	chr4	170060222	170091699	-	ENSG00000109576.13	protein_coding	KAT2|KATII|KYAT2	4q33	aminoadipate aminotransferase	This gene encodes a protein that is highly similar to mouse and rat kynurenine aminotransferase II. The rat protein is a homodimer with two transaminase activities. One activity is the transamination of alpha-aminoadipic acid, a final step in the saccaropine pathway which is the major pathway for L-lysine catabolism. The other activity involves the transamination of kynurenine to produce kynurenine acid, the precursor of kynurenic acid which has neuroprotective properties. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
AAGAB	chr15	67201033	67255195	-	ENSG00000103591.12	protein_coding	KPPP1|PPKP1|PPKP1A|p34	15q23	alpha and gamma adaptin binding protein	The protein encoded by this gene interacts with the gamma-adaptin and alpha-adaptin subunits of complexes involved in clathrin-coated vesicle trafficking. Mutations in this gene are associated with type I punctate palmoplantar keratoderma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
AAK1	chr2	69457997	69674349	-	ENSG00000115977.18	protein_coding	-	2p13.3	AP2 associated kinase 1	Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
AAMDC	chr11	77821109	77918432	+	ENSG00000087884.14	protein_coding	C11orf67|CK067|PTD015	11q14.1	adipogenesis associated Mth938 domain containing	Ubiquitous expression in adrenal (RPKM 14.7), fat (RPKM 11.2) and 24 other tissues
AAMP	chr2	218264123	218270257	-	ENSG00000127837.9	protein_coding	-	2q35	angio associated migratory cell protein	Ubiquitous expression in ovary (RPKM 40.5), thyroid (RPKM 38.1) and 25 other tissues
AANAT	chr17	76453351	76470117	+	ENSG00000129673.9	protein_coding	DSPS|SNAT	17q25.1	aralkylamine N-acetyltransferase	The protein encoded by this gene belongs to the acetyltransferase superfamily. It is the penultimate enzyme in melatonin synthesis and controls the night/day rhythm in melatonin production in the vertebrate pineal gland. Melatonin is essential for the function of the circadian clock that influences activity and sleep. This enzyme is regulated by cAMP-dependent phosphorylation that promotes its interaction with 14-3-3 proteins and thus protects the enzyme against proteasomal degradation. This gene may contribute to numerous genetic diseases such as delayed sleep phase syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
AAR2	chr20	36236459	36270918	+	ENSG00000131043.11	protein_coding	C20orf4|CGI-23	20q11.23	AAR2 splicing factor	This gene encodes the homolog of the yeast A1-alpha2 repressin protein that is involved in mRNA splicing. Alternately spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
AARD	chr8	116938199	116944487	+	ENSG00000205002.3	protein_coding	C8orf85	8q24.11	alanine and arginine rich domain containing protein	Biased expression in testis (RPKM 16.1), lung (RPKM 1.2) and 1 other tissue
AARS1	chr16	 70252298	70289506	-	ENSG00000090861	protein-coding	AARS|CMT2N|DEE29|EIEE29	16q22.1	alanyl-tRNA synthetase 1	The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes.  Class II tRNA synthases evolved early in evolution and are highly conserved.  This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein.  tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons.  They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008]
AARS2	chr6	44299654	44313326	-	ENSG00000124608.4	protein_coding	AARSL|COXPD8|LKENP|MT-ALARS|MTALARS	6p21.1	alanyl-tRNA synthetase 2, mitochondrial	The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]
AARSD1	chr17	42950526	42964498	-	ENSG00000266967.6	protein_coding	AlaXp	17q21.31	alanyl-tRNA synthetase domain containing 1	Broad expression in testis (RPKM 38.9), brain (RPKM 14.2) and 25 other tissues
AASDH	chr4	56338287	56387508	-	ENSG00000157426.13	protein_coding	ACSF4|LYS2|NRPS1098|NRPS998	4q12	aminoadipate-semialdehyde dehydrogenase	This gene encodes a member of the non-ribosome peptide syntesase (NRPS) enzyme family. The encoded protein contains an AMP-binding domain, PP-binding (phosphopantetheine, or pantetheine 4phosphate-binding) domain and the Pyrrolo-quinoline quinon (PQQ) binding domain. The protein is expressed in several adult tissues. [provided by RefSeq, Apr 2016]
AASDHPPT	chr11	106075501	106098710	+	ENSG00000149313.10	protein_coding	AASD-PPT|ACPS|CGI-80|LYS2|LYS5	11q22.3	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia. [provided by RefSeq, Jul 2008]
AASS	chr7	122075647	122144280	-	ENSG00000008311.14	protein_coding	LKR/SDH|LKRSDH|LORSDH	7q31.32	aminoadipate-semialdehyde synthase	This gene encodes a bifunctional enzyme that catalyzes the first two steps in the mammalian lysine degradation pathway. The N-terminal and the C-terminal portions of this enzyme contain lysine-ketoglutarate reductase and saccharopine dehydrogenase activity, respectively, resulting in the conversion of lysine to alpha-aminoadipic semialdehyde. Mutations in this gene are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]
AATF	chr17	36948875	37056871	+	ENSG00000275700.4	protein_coding	BFR2|CHE-1|CHE1|DED	17q12	apoptosis antagonizing transcription factor	The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis. [provided by RefSeq, Jul 2008]
AATK	chr17	81117295	81166077	-	ENSG00000181409.11	protein_coding	AATYK|AATYK1|LMR1|LMTK1|PPP1R77|p35BP	17q25.3	apoptosis associated tyrosine kinase	The protein encoded by this gene contains a tyrosine kinase domain at the N-terminus and a proline-rich domain at the C-terminus. This gene is induced during apoptosis, and expression of this gene may be a necessary pre-requisite for the induction of growth arrest and/or apoptosis of myeloid precursor cells. This gene has been shown to produce neuronal differentiation in a neuroblastoma cell line. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
AB015752.3	chr8	90534611	90620070	-	ENSG00000254180.1	lincRNA	-	-	-	-
ABALON	chr20	31721507	31723409	+	ENSG00000281376.1	antisense	INXS	20q11.21	apoptotic BCL2L1-antisense long non-coding RNA	-
ABC11-4932300O16.1	chr10	131891640	131895297	+	ENSG00000283095.1	lincRNA	-	-	-	-
ABC13-47488600E17.1	chr13	113953705	113973997	-	ENSG00000283199.1	protein_coding	-	-	-	-
ABC14-1188822O7.1	chr1	2773603	2776473	+	ENSG00000283259.1	antisense	-	-	-	-
ABCA1	chr9	104781002	104928237	-	ENSG00000165029.15	protein_coding	ABC-1|ABC1|CERP|HDLCQTL13|HDLDT1|HPALP1|TGD	9q31.1	ATP binding cassette subfamily A member 1	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019]
ABCA10	chr17	69147214	69244846	-	ENSG00000154263.17	protein_coding	EST698739	17q24.3	ATP binding cassette subfamily A member 10	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. [provided by RefSeq, Jul 2008]
ABCA11P	chr4	425435	474129	-	ENSG00000251595.7	transcribed_processed_pseudogene	ABCA11|EST1133530	4p16.3	ATP binding cassette subfamily A member 11, pseudogene	Ubiquitous expression in skin (RPKM 4.6), brain (RPKM 4.5) and 25 other tissues
ABCA12	chr2	214931542	215138428	-	ENSG00000144452.14	protein_coding	ARCI4A|ARCI4B|ICR2B|LI2	2q35	ATP binding cassette subfamily A member 12	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
ABCA13	chr7	48171458	48647496	+	ENSG00000179869.14	protein_coding	-	7p12.3	ATP binding cassette subfamily A member 13	Biased expression in bone marrow (RPKM 8.6) and thyroid (RPKM 0.4)
ABCA17P	chr16	2339150	2426699	+	ENSG00000238098.9	transcribed_unitary_pseudogene	ABCA17	16p13.3	ATP binding cassette subfamily A member 17, pseudogene	Biased expression in testis (RPKM 1.5) and brain (RPKM 0.1)
ABCA2	chr9	137007227	137028922	-	ENSG00000107331.16	protein_coding	ABC2|IDPOGSA	9q34.3	ATP binding cassette subfamily A member 2	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ABCA3	chr16	2275881	2340746	-	ENSG00000167972.13	protein_coding	ABC-C|ABC3|EST111653|LBM180|SMDP3	16p13.3	ATP binding cassette subfamily A member 3	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]
ABCA5	chr17	69244311	69327244	-	ENSG00000154265.15	protein_coding	ABC13|EST90625|HTC3	17q24.3	ATP binding cassette subfamily A member 5	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
ABCA6	chr17	69078702	69141888	-	ENSG00000154262.12	protein_coding	EST155051	17q24.2-q24.3	ATP binding cassette subfamily A member 6	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24 and may play a role in macrophage lipid homeostasis. [provided by RefSeq, Jul 2008]
ABCA7	chr19	1040101	1065572	+	ENSG00000064687.12	protein_coding	ABCA-SSN|ABCX|AD9	19p13.3	ATP binding cassette subfamily A member 7	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. [provided by RefSeq, Jul 2008]
ABCA8	chr17	68867292	68955392	-	ENSG00000141338.13	protein_coding	-	17q24.2	ATP binding cassette subfamily A member 8	Broad expression in fat (RPKM 21.2), ovary (RPKM 21.1) and 22 other tissues
ABCA9	chr17	68974488	69061064	-	ENSG00000154258.16	protein_coding	EST640918	17q24.2	ATP binding cassette subfamily A member 9	This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. [provided by RefSeq, Jul 2008]
ABCB1	chr7	87503633	87713323	-	ENSG00000085563.14	protein_coding	ABC20|CD243|CLCS|GP170|MDR1|P-GP|PGY1|p-170	7q21.12	ATP binding cassette subfamily B member 1	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. Mutations in this gene are associated with colchicine resistance and Inflammatory bowel disease 13. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Feb 2017]
ABCB11	chr2	168922938	169031322	-	ENSG00000073734.8	protein_coding	ABC16|BRIC2|BSEP|PFIC-2|PFIC2|PGY4|SPGP	2q31.1	ATP binding cassette subfamily B member 11	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is the major canalicular bile salt export pump in man. Mutations in this gene cause a form of progressive familial intrahepatic cholestases which are a group of inherited disorders with severe cholestatic liver disease from early infancy. [provided by RefSeq, Jul 2008]
ABCB4	chr7	87401697	87480435	-	ENSG00000005471.15	protein_coding	ABC21|GBD1|ICP3|MDR2|MDR2/3|MDR3|PFIC-3|PGY3	7q21.12	ATP binding cassette subfamily B member 4	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intra-cellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the MDR/TAP subfamily.  Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation.  This gene encodes a full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate.  The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile.  Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]
ABCB5	chr7	20615207	20777038	+	ENSG00000004846.16	protein_coding	ABCB5alpha|ABCB5beta|EST422562	7p21.1	ATP binding cassette subfamily B member 5	ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]
ABCB6	chr2	219209768	219218990	-	ENSG00000115657.12	protein_coding	ABC|LAN|MTABC3|PRP|umat	2q35	ATP binding cassette subfamily B member 6 (Langereis blood group)	This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria. [provided by RefSeq, Mar 2017]
ABCB8	chr7	151028422	151047782	+	ENSG00000197150.12	protein_coding	EST328128|M-ABC1|MABC1|MITOSUR	7q36.1	ATP binding cassette subfamily B member 8	This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
ABCB9	chr12	122920951	122981649	-	ENSG00000150967.17	protein_coding	EST122234|TAPL	12q24.31	ATP binding cassette subfamily B member 9	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This family member functions in the translocation of peptides from the cytosol into the lysosomal lumen. Alternative splicing of this gene results in distinct isoforms which are likely to have different substrate specificities. [provided by RefSeq, Jul 2011]
ABCC1	chr16	15949577	16143074	+	ENSG00000103222.18	protein_coding	ABC29|ABCC|DFNA77|GS-X|MRP|MRP1	16p13.11	ATP binding cassette subfamily C member 1	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra-and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012]
ABCC10	chr6	43427366	43450430	+	ENSG00000124574.14	protein_coding	EST182763|MRP7|SIMRP7	6p21.1	ATP binding cassette subfamily C member 10	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This ABC full-transporter is a member of the MRP subfamily which is involved in multi-drug resistance. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2010]
ABCC13	chr21	14236206	14362754	+	ENSG00000243064.8	transcribed_unprocessed_pseudogene	ABCC13P|C21orf73|PRED6	21q11.2	ATP binding cassette subfamily C member 13 (pseudogene)	This gene is a member of the superfamily of genes encoding ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This family member is part of the MRP subfamily, which is involved in multi-drug resistance, but the human locus is now thought to be a pseudogene incapable of encoding a functional ABC protein. Alternative splicing results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
ABCC2	chr10	99782732	99852192	+	ENSG00000023839.10	protein_coding	ABC30|CMOAT|DJS|MRP2|cMRP	10q24.2	ATP binding cassette subfamily C member 2	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [provided by RefSeq, Jul 2008]
ABCC3	chr17	50634777	50692252	+	ENSG00000108846.15	protein_coding	ABC31|EST90757|MLP2|MOAT-D|MRP3|cMOAT2	17q21.33	ATP binding cassette subfamily C member 3	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
ABCC4	chr13	95019829	95301446	-	ENSG00000125257.13	protein_coding	MOAT-B|MOATB|MRP4	13q32.1	ATP binding cassette subfamily C member 4	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
ABCC5	chr3	183919934	184018015	-	ENSG00000114770.16	protein_coding	ABC33|EST277145|MOAT-C|MOATC|MRP5|SMRP|pABC11	3q27.1	ATP binding cassette subfamily C member 5	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that this protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. This protein may be involved in resistance to thiopurines in acute lymphoblastic leukemia and antiretroviral nucleoside analogs in HIV-infected patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
ABCC5-AS1	chr3	184006338	184011419	+	ENSG00000223882.1	antisense	-	3q27.1	ABCC5 antisense RNA 1	-
ABCC6	chr16	16148928	16223522	-	ENSG00000091262.15	protein_coding	ABC34|ARA|EST349056|GACI2|MLP1|MOAT-E|MOATE|MRP6|PXE|PXE1|URG7	16p13.11	ATP binding cassette subfamily C member 6	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein, a member of the MRP subfamily, is involved in multi-drug resistance. Mutations in this gene cause pseudoxanthoma elasticum. Alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]
ABCC6P2	chr16	14820792	14824702	-	ENSG00000255277.3	transcribed_unprocessed_pseudogene	-	16p13.11	ATP binding cassette subfamily C member 6 pseudogene 2	-
ABCC8	chr11	17392885	17476845	-	ENSG00000006071.12	protein_coding	ABC36|HHF1|HI|HRINS|MRP8|PHHI|PNDM3|SUR|SUR1|SUR1delta2|TNDM2	11p15.1	ATP binding cassette subfamily C member 8	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations in the ABCC8 gene and deficiencies in the encoded protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]
ABCC9	chr12	21797401	21942529	-	ENSG00000069431.11	protein_coding	ABC37|ATFB12|CANTU|CMD1O|SUR2	12p12.1	ATP binding cassette subfamily C member 9	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]
ABCD2	chr12	39550033	39619751	-	ENSG00000173208.3	protein_coding	ABC39|ALDL1|ALDR|ALDRP|hALDR	12q12	ATP binding cassette subfamily D member 2	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of ABCD1 and/or other peroxisomal ABC transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq, Jul 2008]
ABCD3	chr1	94418455	94518666	+	ENSG00000117528.11	protein_coding	ABC43|CBAS5|PMP70|PXMP1|ZWS2	1p21.3	ATP binding cassette subfamily D member 3	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
ABCD4	chr14	74285423	74303056	-	ENSG00000119688.20	protein_coding	ABC41|EST352188|MAHCJ|P70R|P79R|PMP69|PXMP1L	14q24.3	ATP binding cassette subfamily D member 4	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in several protein-coding and non-protein-coding variants. [provided by RefSeq, Jul 2017]
ABCE1	chr4	145097932	145129179	+	ENSG00000164163.10	protein_coding	ABC38|OABP|RLI|RLI1|RNASEL1|RNASELI|RNS4I	4q31.21	ATP binding cassette subfamily E member 1	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the OABP subfamily. Alternatively referred to as the RNase L inhibitor, this protein functions to block the activity of ribonuclease L. Activation of ribonuclease L leads to inhibition of protein synthesis in the 2-5A/RNase L system, the central pathway for viral interferon action. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
ABCF1	chr6	30571376	30597179	+	ENSG00000204574.12	protein_coding	ABC27|ABC50	6p21.33	ATP binding cassette subfamily F member 1	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [provided by RefSeq, Jul 2008]
ABCF2	chr7	151207837	151227230	-	ENSG00000033050.7	protein_coding	ABC28|EST133090|HUSSY-18|HUSSY18	7q36.1	ATP binding cassette subfamily F member 2	This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding cassette proteins transport various molecules across extra- and intracellular membranes. Alterations in this gene may be involved in cancer progression. Related pseudogenes have been identified on chromosomes 3 and 7. [provided by RefSeq, Mar 2019]
ABCF2P1	chr3	88317156	88319022	+	ENSG00000242159.1	processed_pseudogene	-	3p11.1	ATP binding cassette subfamily F member 2 pseudogene 1	-
ABCF3	chr3	184186023	184194012	+	ENSG00000161204.11	protein_coding	EST201864	3q27.1	ATP binding cassette subfamily F member 3	This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding cassette proteins transport various molecules across extra- and intracellular membranes. The protein encoded by this gene displays antiviral effect against flaviviruses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]
ABCG1	chr21	42199689	42297244	+	ENSG00000160179.18	protein_coding	ABC8|WHITE1	21q22.3	ATP binding cassette subfamily G member 1	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Six alternative splice variants have been identified. [provided by RefSeq, Jul 2008]
ABCG2	chr4	88090264	88231322	-	ENSG00000118777.10	protein_coding	ABC15|ABCP|BCRP|BCRP1|BMDP|CD338|CDw338|EST157481|GOUT1|MRX|MXR|MXR-1|MXR1|UAQTL1	4q22.1	ATP binding cassette subfamily G member 2 (Junior blood group)	The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
ABCG4	chr11	119149012	119162653	+	ENSG00000172350.9	protein_coding	WHITE2	11q23.3	ATP binding cassette subfamily G member 4	The protein encoded by this gene is a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). The encoded protein is a member of the White subfamily and plays an important role in cellular cholesterol homeostasis. This protein functions as either a homodimer or as a heterodimer with another ABC subfamily protein such as ABCG1. [provided by RefSeq, Jan 2017]
ABCG5	chr2	43812472	43838865	-	ENSG00000138075.11	protein_coding	STSL|STSL2	2p21	ATP binding cassette subfamily G member 5	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. It is expressed in a tissue-specific manner in the liver, colon, and intestine. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG8. Mutations in this gene may contribute to sterol accumulation and atheroschlerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]
ABCG8	chr2	43838964	43878466	+	ENSG00000143921.6	protein_coding	GBD4|STSL|STSL1	2p21	ATP binding cassette subfamily G member 8	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]
ABHD1	chr2	27123789	27130812	+	ENSG00000143994.13	protein_coding	LABH1	2p23.3	abhydrolase domain containing 1	This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq, Jul 2008]
ABHD10	chr3	111979010	111993363	+	ENSG00000144827.8	protein_coding	-	3q13.2	abhydrolase domain containing 10, depalmitoylase	Ubiquitous expression in kidney (RPKM 20.6), thyroid (RPKM 19.7) and 25 other tissues
ABHD11	chr7	73736094	73738867	-	ENSG00000106077.18	protein_coding	PP1226|WBSCR21	7q11.23	abhydrolase domain containing 11	This gene encodes a protein containing an alpha/beta hydrolase fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Mar 2016]
ABHD12	chr20	25294743	25390983	-	ENSG00000100997.18	protein_coding	ABHD12A|BEM46L2|C20orf22|PHARC|dJ965G21.2|hABHD12	20p11.21	abhydrolase domain containing 12, lysophospholipase	This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011]
ABHD14A	chr3	51971426	51981199	+	ENSG00000248487.8	protein_coding	DORZ1	3p21.2	abhydrolase domain containing 14A	Ubiquitous expression in kidney (RPKM 15.4), thyroid (RPKM 13.6) and 25 other tissues
ABHD14B	chr3	51968510	51983409	-	ENSG00000114779.19	protein_coding	CIB|HEL-S-299	3p21.2	abhydrolase domain containing 14B	Ubiquitous expression in fat (RPKM 33.8), kidney (RPKM 32.8) and 25 other tissues
ABHD15	chr17	29560547	29567137	-	ENSG00000168792.4	protein_coding	-	17q11.2	abhydrolase domain containing 15	-
ABHD16A	chr6	31686949	31703444	-	ENSG00000204427.11	protein_coding	BAT5|D6S82E|NG26|PP199|hBAT5	6p21.33	abhydrolase domain containing 16A, phospholipase	A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
ABHD16B	chr20	63861498	63862988	+	ENSG00000183260.7	protein_coding	C20orf135|dJ591C20.1	20q13.33	abhydrolase domain containing 16B	-
ABHD17A	chr19	1876810	1885547	-	ENSG00000129968.15	protein_coding	C19orf27|FAM108A1	19p13.3	abhydrolase domain containing 17A, depalmitoylase	Ubiquitous expression in spleen (RPKM 12.7), bone marrow (RPKM 10.4) and 25 other tissues
ABHD17AP4	chr22	20667836	20670984	-	ENSG00000229107.2	processed_pseudogene	FAM108A5|FAM108A5P	22q11.21	ABHD17A pseudogene 4	-
ABHD17AP6	chr17	20814620	20844257	+	ENSG00000226981.2	unprocessed_pseudogene	FAM108A7P	17p11.2	ABHD17A pseudogene 6	-
ABHD17C	chr15	80679684	80755621	+	ENSG00000136379.11	protein_coding	FAM108C1	15q25.1	abhydrolase domain containing 17C, depalmitoylase	Broad expression in colon (RPKM 37.1), stomach (RPKM 19.2) and 20 other tissues
ABHD2	chr15	89087459	89202360	+	ENSG00000140526.17	protein_coding	HS1-2|LABH2|PHPS1-2	15q26.1	abhydrolase domain containing 2, acylglycerol lipase	This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a wide range of enzymes. The encoded protein is an acylglycerol lipase that catalyzes the hydrolysis of endocannabinoid arachidonoylglycerol from the cell membrane. This leads to activation of the sperm calcium channel CatSper, which results in sperm activation. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jan 2017]
ABHD3	chr18	21650897	21704805	-	ENSG00000158201.9	protein_coding	LABH3	18q11.2	abhydrolase domain containing 3, phospholipase	This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. [provided by RefSeq, Jul 2008]
ABHD4	chr14	22598237	22613215	+	ENSG00000100439.10	protein_coding	ABH4	14q11.2	abhydrolase domain containing 4, N-acyl phospholipase B	Ubiquitous expression in testis (RPKM 27.9), gall bladder (RPKM 15.6) and 25 other tissues
ABHD5	chr3	43690113	43734371	+	ENSG00000011198.7	protein_coding	CGI58|IECN2|NCIE2	3p21.33	abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]
ABHD6	chr3	58237506	58295693	+	ENSG00000163686.14	protein_coding	-	3p14.3	abhydrolase domain containing 6, acylglycerol lipase	-
ABHD8	chr19	17292131	17310236	-	ENSG00000127220.5	protein_coding	-	19p13.11	abhydrolase domain containing 8	Broad expression in testis (RPKM 11.8), brain (RPKM 9.9) and 25 other tissues
ABI1	chr10	26746593	26861087	-	ENSG00000136754.16	protein_coding	ABI-1|ABLBP4|E3B1|NAP1BP|SSH3BP|SSH3BP1	10p12.1	abl interactor 1	This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Sep 2011]
ABI2	chr2	203328219	203447723	+	ENSG00000138443.15	protein_coding	ABI-2|ABI2B|AIP-1|AIP1|AblBP3|SSH3BP2|argBP1|argBPIA|argBPIB	2q33.2	abl interactor 2	Broad expression in brain (RPKM 35.9), thyroid (RPKM 13.9) and 21 other tissues
ABI3	chr17	49210227	49223225	+	ENSG00000108798.8	protein_coding	NESH|SSH3BP3	17q21.32	ABI family member 3	This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
ABI3BP	chr3	100749156	100993515	-	ENSG00000154175.16	protein_coding	NESHBP|TARSH	3q12.2	ABI family member 3 binding protein	Broad expression in gall bladder (RPKM 33.8), lung (RPKM 26.2) and 21 other tissues
ABITRAM	chr9	 108934400	108950744	+	ENSG00000119328	protein-coding	C9orf6|CG-8|FAM206A|Simiate	9q31.3	actin binding transcription modulator	Ubiquitous expression in testis (RPKM 9.4), thyroid (RPKM 9.0) and 25 other tissues
ABL1	chr9	130713946	130887675	+	ENSG00000097007.17	protein_coding	ABL|BCR-ABL|CHDSKM|JTK7|bcr/abl|c-ABL|c-ABL1|p150|v-abl	9q34.12	ABL proto-oncogene 1, non-receptor tyrosine kinase	This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5 end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]
ABL2	chr1	179099327	179229684	-	ENSG00000143322.19	protein_coding	ABLL|ARG	1q25.2	ABL proto-oncogene 2, non-receptor tyrosine kinase	This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2009]
ABLIM1	chr10	114431113	114685003	-	ENSG00000099204.18	protein_coding	ABLIM|LIMAB1|LIMATIN|abLIM-1	10q25.3	actin binding LIM protein 1	This gene encodes a LIM zinc-binding domain-containing protein that binds to actin filaments and mediates interactions between actin and cytoplasmic targets. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2017]
ABLIM2	chr4	7965310	8158832	-	ENSG00000163995.19	protein_coding	-	4p16.1	actin binding LIM protein family member 2	-
ABLIM3	chr5	149141483	149260542	+	ENSG00000173210.19	protein_coding	HMFN1661	5q32	actin binding LIM protein family member 3	This gene encodes a member of the actin-binding LIM (abLIM) family of proteins. These proteins are characterized by an N-terminal LIM domain and a C-terminal dematin-like domain. The encoded protein interacts with actin filaments and may be a component of adherens junctions in several cell types. A variant of this gene may be associated with pain sensitivity in male human patients. [provided by RefSeq, Sep 2016]
ABO	chr9	133250401	133275214	-	ENSG00000175164.13	protein_coding	A3GALNT|A3GALT1|GTB|NAGAT	9q34.2	ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase	This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The O blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. This locus has been identified as a susceptibility locus for severe coronavirus disease 2019 (COVID-19) by genome-wide association study. [provided by RefSeq, Aug 2020]
ABR	chr17	1003518	1229021	-	ENSG00000159842.14	protein_coding	MDB	17p13.3	ABR activator of RhoGEF and GTPase	This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]
ABRACL	chr6	139028682	139043302	+	ENSG00000146386.7	protein_coding	C6orf115|Costars|HSPC280|PRO2013	6q24.1	ABRA C-terminal like	Broad expression in colon (RPKM 38.5), lymph node (RPKM 36.1) and 23 other tissues
ABRAXAS1	chr4	 83459517	83485100	-	ENSG00000163322	protein-coding	ABRA1|CCDC98|FAM175A	4q21.23	abraxas 1, BRCA1 A complex subunit	This gene encodes a protein that binds to the C-terminal repeats of breast cancer 1 (BRCA1) through a phospho-SXXF motif. The encoded protein recruits ubiquitin interaction motif containing 1 protein to BRCA1 protein and is required for DNA damage resistance, DNA repair, and cell cycle checkpoint control. Pseudogenes of this gene are found on chromosomes 3 and 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
ABRAXAS2	chr10	 124801819	124836667	+	ENSG00000165660	protein-coding	ABRO1|FAM175B|KIAA0157	10q26.13	abraxas 2, BRISC complex subunit	Ubiquitous expression in thyroid (RPKM 8.5), lymph node (RPKM 6.8) and 25 other tissues
ABT1	chr6	26596952	26600744	+	ENSG00000146109.4	protein_coding	Esf2|hABT1	6p22.2	activator of basal transcription 1	Basal transcription of genes by RNA polymerase II requires the interaction of TATA-binding protein (TBP) with the core region of class II promoters.  Studies in mouse suggest that the protein encoded by this gene likely activates basal transcription from class II promoters by interaction with TBP and the class II promoter DNA. [provided by RefSeq, Jul 2008]
ABTB1	chr3	127672935	127680920	+	ENSG00000114626.17	protein_coding	BPOZ|BTB3|BTBD21|EF1ABP|PP2259	3q21.3	ankyrin repeat and BTB domain containing 1	This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]
AC000032.2	chr1	109693117	109693742	-	ENSG00000260246.1	antisense	-	-	-	-
AC000078.5	chr22	19887289	19887970	+	ENSG00000232926.1	processed_pseudogene	-	-	-	-
AC000120.7	chr7	92200014	92206857	-	ENSG00000243107.1	sense_overlapping	-	-	-	-
AC000123.2	chr7	127359785	127364759	-	ENSG00000280347.1	TEC	-	-	-	-
AC000123.4	chr7	127350128	127351523	+	ENSG00000224138.1	antisense	-	-	-	-
AC001226.7	chr13	77027944	77028482	+	ENSG00000274898.1	lincRNA	-	-	-	-
AC002059.10	chr22	29316744	29317220	-	ENSG00000273216.1	sense_intronic	-	-	-	-
AC002064.5	chr7	90312496	90322592	+	ENSG00000225498.1	lincRNA	-	-	-	-
AC002066.1	chr7	116238260	116499465	-	ENSG00000237813.3	antisense	-	-	-	-
AC002075.4	chr7	93669826	93670077	-	ENSG00000237729.2	processed_pseudogene	-	-	-	-
AC002117.1	chr17	45150400	45161510	-	ENSG00000224505.2	antisense	-	-	-	-
AC002128.5	chr19	35251440	35253639	-	ENSG00000271366.1	antisense	-	-	-	-
AC002306.1	chr19	19606350	19608660	+	ENSG00000259242.2	antisense	-	-	-	-
AC002310.12	chr16	30534752	30537144	+	ENSG00000235560.3	antisense	-	-	-	-
AC002310.14	chr16	30526918	30528294	+	ENSG00000278922.1	TEC	-	-	-	-
AC002398.11	chr19	35747057	35753415	-	ENSG00000267439.1	antisense	-	-	-	-
AC002398.13	chr19	35769144	35771028	-	ENSG00000267049.1	antisense	-	-	-	-
AC002429.5	chr7	95035731	95214332	-	ENSG00000236197.3	protein_coding	-	-	-	-
AC002454.1	chr7	92836483	92917187	+	ENSG00000237819.5	antisense	-	-	-	-
AC002467.7	chr7	107742817	107744581	-	ENSG00000241764.3	antisense	-	-	-	-
AC002480.2	chr7	22649960	22665533	-	ENSG00000238033.1	lincRNA	-	-	-	-
AC002480.3	chr7	22563337	22573996	+	ENSG00000232759.1	antisense	-	-	-	-
AC002480.4	chr7	22589705	22591622	+	ENSG00000232949.1	antisense	-	-	-	-
AC002511.3	chr19	35432957	35434642	-	ENSG00000232680.2	lincRNA	-	-	-	-
AC002539.1	chr17	70017324	70128859	-	ENSG00000230258.6	antisense	-	-	-	-
AC002550.5	chr16	19706351	19715383	+	ENSG00000261312.1	antisense	-	-	-	-
AC002550.6	chr16	19694035	19694428	-	ENSG00000276571.1	antisense	-	-	-	-
AC002984.2	chr19	36173406	36173853	-	ENSG00000267005.1	processed_pseudogene	-	-	-	-
AC003075.4	chr7	17279834	17299357	-	ENSG00000237773.5	antisense	-	-	-	-
AC003090.1	chr7	25593351	25750994	-	ENSG00000223561.6	lincRNA	-	-	-	-
AC003986.6	chr7	19112474	19114271	+	ENSG00000232821.1	antisense	-	-	-	-
AC004004.2	chr19	22501699	22501948	-	ENSG00000270317.1	processed_pseudogene	-	-	-	-
AC004019.13	chr22	17580157	17589192	-	ENSG00000236754.5	antisense	-	-	-	-
AC004076.5	chr19	57449689	57453011	+	ENSG00000276449.1	antisense	-	-	-	-
AC004158.3	chr16	72425948	72533892	+	ENSG00000260664.2	lincRNA	-	-	-	-
AC004221.2	chr19	1238179	1239522	+	ENSG00000267778.1	lincRNA	-	-	-	-
AC004231.2	chr17	40921430	40975926	+	ENSG00000234477.1	antisense	-	-	-	-
AC004237.1	chr5	132688681	132723725	+	ENSG00000230612.3	antisense	-	-	-	-
AC004381.6	chr16	20806429	20849668	+	ENSG00000005189.19	protein_coding	-	-	-	-
AC004381.7	chr16	20743663	20766620	-	ENSG00000260510.1	antisense	-	-	-	-
AC004381.8	chr16	20711473	20732990	+	ENSG00000283399.1	unprocessed_pseudogene	-	-	-	-
AC004448.5	chr17	19417804	19492991	-	ENSG00000235979.8	lincRNA	-	-	-	-
AC004453.8	chr7	44467897	44468304	+	ENSG00000146677.7	processed_pseudogene	-	-	-	-
AC004490.1	chr19	2212029	2215565	-	ENSG00000267122.1	antisense	-	-	-	-
AC004540.5	chr7	26398593	26494256	+	ENSG00000214870.8	lincRNA	-	-	-	-
AC004637.1	chr19	3672582	3674295	+	ENSG00000267304.1	antisense	-	-	-	-
AC004744.3	chr7	18892096	18899433	-	ENSG00000226522.1	antisense	-	-	-	-
AC004870.4	chr7	46969702	47027481	+	ENSG00000223829.5	processed_transcript	-	-	-	-
AC004893.11	chr7	99013165	99048240	+	ENSG00000242687.2	antisense	-	-	-	-
AC004895.4	chr7	6081103	6093085	+	ENSG00000231704.5	lincRNA	-	-	-	-
AC004951.5	chr7	43984994	43990207	-	ENSG00000239556.3	transcribed_unprocessed_pseudogene	-	-	-	-
AC004951.6	chr7	44004046	44007866	-	ENSG00000228434.1	lincRNA	-	-	-	-
AC004967.7	chr7	97969005	97972254	-	ENSG00000243554.1	unprocessed_pseudogene	-	-	-	-
AC004985.12	chr7	43961590	43973323	-	ENSG00000241057.2	transcribed_unprocessed_pseudogene	-	-	-	-
AC005009.1	chr7	86775081	86776022	-	ENSG00000231255.1	antisense	-	-	-	-
AC005041.11	chr2	74407797	74413603	-	ENSG00000234521.2	transcribed_unitary_pseudogene	-	-	-	-
AC005042.2	chr2	158548425	158549224	+	ENSG00000227331.1	processed_pseudogene	-	-	-	-
AC005062.2	chr7	19918981	20140453	-	ENSG00000243004.5	sense_overlapping	-	-	-	-
AC005076.5	chr7	87151423	87152420	-	ENSG00000224046.1	antisense	-	-	-	-
AC005077.14	chr7	76071469	76074963	-	ENSG00000230882.1	processed_pseudogene	-	-	-	-
AC005077.7	chr7	76108434	76132187	-	ENSG00000224273.2	transcribed_unprocessed_pseudogene	-	-	-	-
AC005077.8	chr7	76113026	76113400	-	ENSG00000213549.3	processed_pseudogene	-	-	-	-
AC005102.1	chr7	75835663	75836141	+	ENSG00000219039.2	processed_pseudogene	-	-	-	-
AC005104.3	chr2	241351340	241353104	-	ENSG00000223374.1	antisense	-	-	-	-
AC005154.6	chr7	30516309	30594809	-	ENSG00000196295.11	processed_transcript	-	-	-	-
AC005154.7	chr7	30523143	30524535	-	ENSG00000244480.1	transcribed_processed_pseudogene	-	-	-	-
AC005220.3	chr20	53940160	53942508	+	ENSG00000236352.1	antisense	-	-	-	-
AC005237.2	chr2	241118725	241118943	+	ENSG00000235861.1	processed_pseudogene	-	-	-	-
AC005237.4	chr2	241015599	241064116	-	ENSG00000225521.1	antisense	-	-	-	-
AC005253.2	chr19	18557775	18561560	-	ENSG00000268030.1	antisense	-	-	-	-
AC005281.1	chr7	12483344	12541910	+	ENSG00000226690.7	protein_coding	-	-	-	-
AC005281.2	chr7	12570125	12571392	-	ENSG00000225606.1	antisense	-	-	-	-
AC005306.3	chr19	1989401	1990370	+	ENSG00000267283.1	processed_transcript	-	-	-	-
AC005307.3	chr19	28683071	28727777	-	ENSG00000283269.1	transcribed_unprocessed_pseudogene	-	-	-	-
AC005336.4	chr19	15910582	15911824	-	ENSG00000267056.2	processed_pseudogene	-	-	-	-
AC005363.9	chr16	1963745	1964095	-	ENSG00000255513.1	transcribed_processed_pseudogene	-	-	-	-
AC005387.3	chr19	18531613	18532632	+	ENSG00000268938.2	antisense	-	-	-	-
AC005391.2	chr19	928259	928817	-	ENSG00000267159.2	antisense	-	-	-	-
AC005488.11	chr7	72969814	72971727	+	ENSG00000205584.6	unprocessed_pseudogene	-	-	-	-
AC005498.3	chr19	56536156	56538575	-	ENSG00000267421.6	lincRNA	-	-	-	-
AC005498.4	chr19	56535299	56535763	+	ENSG00000267224.1	lincRNA	-	-	-	-
AC005517.3	chr17	15506866	15507354	+	ENSG00000223878.1	processed_pseudogene	-	-	-	-
AC005519.4	chr14	74289127	74294425	-	ENSG00000258559.2	sense_overlapping	-	-	-	-
AC005522.7	chr7	76972679	76976961	-	ENSG00000225703.1	lincRNA	-	-	-	-
AC005523.3	chr19	4785120	4791207	-	ENSG00000268536.1	lincRNA	-	-	-	-
AC005532.5	chr7	7255154	7277779	+	ENSG00000230825.1	processed_transcript	-	-	-	-
AC005540.3	chr2	190880797	190882059	-	ENSG00000235852.1	antisense	-	-	-	-
AC005592.2	chr5	142325293	142672001	+	ENSG00000231185.6	antisense	-	-	-	-
AC005592.3	chr5	142703782	142705421	+	ENSG00000261757.1	lincRNA	-	-	-	-
AC005609.17	chr5	140878073	140882642	-	ENSG00000278901.1	antisense	-	-	-	-
AC005682.5	chr7	22854178	22861579	+	ENSG00000228649.8	processed_transcript	-	-	-	-
AC005682.6	chr7	22863874	22881350	-	ENSG00000226329.2	unprocessed_pseudogene	-	-	-	-
AC005703.3	chr17	15267461	15272290	-	ENSG00000230971.1	lincRNA	-	-	-	-
AC005730.2	chr17	20056287	20056630	+	ENSG00000225681.2	transcribed_processed_pseudogene	-	-	-	-
AC005740.6	chr5	141952419	141953375	+	ENSG00000271871.1	antisense	-	-	-	-
AC005753.1	chr5	141825708	141826325	-	ENSG00000278925.1	lincRNA	-	-	-	-
AC005754.8	chr5	141118680	141120765	+	ENSG00000272108.1	lincRNA	-	-	-	-
AC005786.7	chr19	3544199	3557569	+	ENSG00000267436.1	antisense	-	-	-	-
AC006014.8	chr7	75391955	75395434	-	ENSG00000146722.11	transcribed_unprocessed_pseudogene	-	-	-	-
AC006042.6	chr7	8114025	8116561	+	ENSG00000227719.1	antisense	-	-	-	-
AC006042.8	chr7	7980312	7982228	+	ENSG00000233264.2	processed_pseudogene	-	-	-	-
AC006050.2	chr17	30573471	30577000	-	ENSG00000231421.7	processed_transcript	-	-	-	-
AC006077.3	chr5	134905235	134905691	+	ENSG00000279799.1	TEC	-	-	-	-
AC006077.4	chr5	134863091	134863433	-	ENSG00000270892.1	processed_pseudogene	-	-	-	-
AC006116.12	chr19	56387412	56388424	+	ENSG00000267192.1	antisense	-	-	-	-
AC006126.3	chr19	45187388	45216933	+	ENSG00000266958.1	antisense	-	-	-	-
AC006129.2	chr19	41545192	41555462	+	ENSG00000268027.5	lincRNA	-	-	-	-
AC006159.5	chr7	116542718	116551969	-	ENSG00000235427.1	antisense	-	-	-	-
AC006160.5	chr4	17587467	17614571	-	ENSG00000249502.1	antisense	-	-	-	-
AC006272.2	chr19	51839771	51840945	-	ENSG00000268316.1	lincRNA	-	-	-	-
AC006369.2	chr2	37600136	37646698	+	ENSG00000236213.1	antisense	-	-	-	-
AC006460.2	chr2	190676944	190708716	-	ENSG00000228509.5	antisense	-	-	-	-
AC006486.10	chr19	42242775	42244973	+	ENSG00000279539.1	TEC	-	-	-	-
AC006538.1	chr19	2727743	2729327	-	ENSG00000261342.1	sense_intronic	-	-	-	-
AC006539.2	chr19	20079818	20080539	-	ENSG00000240673.1	processed_pseudogene	-	-	-	-
AC006539.3	chr19	20033444	20034332	+	ENSG00000268070.1	processed_pseudogene	-	-	-	-
AC006547.13	chr22	20058030	20070569	-	ENSG00000236540.7	antisense	-	-	-	-
AC006547.15	chr22	20064552	20065705	-	ENSG00000268292.1	antisense	-	-	-	-
AC006547.8	chr22	20110821	20111875	-	ENSG00000243762.1	antisense	-	-	-	-
AC006548.28	chr22	16950086	17034417	-	ENSG00000280156.1	sense_overlapping	-	-	-	-
AC007000.10	chr7	77071751	77072237	-	ENSG00000225726.1	processed_pseudogene	-	-	-	-
AC007003.1	chr7	76902491	76919191	+	ENSG00000231183.3	processed_transcript	-	-	-	-
AC007038.7	chr2	210030733	210064356	+	ENSG00000229127.1	antisense	-	-	-	-
AC007040.11	chr2	70939318	70995336	-	ENSG00000258881.6	protein_coding	-	-	-	-
AC007040.8	chr2	71002531	71064743	-	ENSG00000236469.1	antisense	-	-	-	-
AC007098.1	chr2	62826064	62858438	-	ENSG00000226605.1	antisense	-	-	-	-
AC007106.1	chr4	27967723	27985063	-	ENSG00000251410.1	lincRNA	-	-	-	-
AC007131.2	chr2	59238714	59733396	-	ENSG00000233891.7	lincRNA	-	-	-	-
AC007182.6	chr14	75574888	75579588	-	ENSG00000224721.1	antisense	-	-	-	-
AC007191.4	chr19	45714387	45717381	-	ENSG00000279407.1	TEC	-	-	-	-
AC007192.6	chr19	18144522	18151691	-	ENSG00000269145.2	antisense	-	-	-	-
AC007193.9	chr19	46382492	46383169	-	ENSG00000268810.1	antisense	-	-	-	-
AC007204.2	chr19	19900968	19963464	+	ENSG00000267268.1	lincRNA	-	-	-	-
AC007228.11	chr19	56545566	56567411	-	ENSG00000269696.1	antisense	-	-	-	-
AC007238.1	chr2	58460292	58462032	-	ENSG00000231043.3	processed_pseudogene	-	-	-	-
AC007256.5	chr2	201410544	201413308	-	ENSG00000213090.2	processed_pseudogene	-	-	-	-
AC007271.3	chr2	102172621	102182108	-	ENSG00000226925.1	antisense	-	-	-	-
AC007277.3	chr2	170640374	170695374	-	ENSG00000213981.8	antisense	-	-	-	-
AC007278.2	chr2	102433957	102435340	+	ENSG00000236525.1	sense_intronic	-	-	-	-
AC007278.3	chr2	102438713	102440475	+	ENSG00000234389.1	sense_intronic	-	-	-	-
AC007283.4	chr2	201162484	201162680	-	ENSG00000235579.1	processed_pseudogene	-	-	-	-
AC007285.6	chr7	29988600	30025660	+	ENSG00000227014.5	antisense	-	-	-	-
AC007292.3	chr19	4356637	4358448	-	ENSG00000269318.1	antisense	-	-	-	-
AC007292.4	chr19	4347244	4354057	-	ENSG00000269807.1	antisense	-	-	-	-
AC007292.6	chr19	4363789	4364640	+	ENSG00000267980.1	antisense	-	-	-	-
AC007308.7	chr22	20889206	20891214	-	ENSG00000272600.1	antisense	-	-	-	-
AC007312.3	chr7	33276834	33277091	-	ENSG00000224946.1	processed_pseudogene	-	-	-	-
AC007319.1	chr2	187003220	187554663	+	ENSG00000224063.5	antisense	-	-	-	-
AC007381.3	chr2	60350595	60353016	-	ENSG00000228590.1	lincRNA	-	-	-	-
AC007389.1	chr2	65500993	65502138	-	ENSG00000237979.1	processed_pseudogene	-	-	-	-
AC007389.2	chr2	65511771	65512076	-	ENSG00000223739.1	processed_pseudogene	-	-	-	-
AC007389.3	chr2	65589566	65640177	-	ENSG00000235725.1	lincRNA	-	-	-	-
AC007391.2	chr2	37325340	37326797	+	ENSG00000232028.1	lincRNA	-	-	-	-
AC007405.4	chr2	170723086	170770768	-	ENSG00000234350.4	lincRNA	-	-	-	-
AC007405.6	chr2	170771113	170778148	+	ENSG00000239467.5	lincRNA	-	-	-	-
AC007405.8	chr2	170816293	170818037	-	ENSG00000235934.1	antisense	-	-	-	-
AC007422.1	chr2	67562067	67574044	+	ENSG00000224173.1	lincRNA	-	-	-	-
AC007557.2	chr2	216866332	216867813	-	ENSG00000237479.1	antisense	-	-	-	-
AC007557.3	chr2	216868012	216869156	+	ENSG00000227021.1	lincRNA	-	-	-	-
AC007563.1	chr2	216870441	216873932	-	ENSG00000236295.1	lincRNA	-	-	-	-
AC007563.3	chr2	216799608	216805335	+	ENSG00000229352.1	lincRNA	-	-	-	-
AC007563.5	chr2	216694464	216994079	+	ENSG00000236886.2	antisense	-	-	-	-
AC007566.10	chr7	92457564	92491610	+	ENSG00000244055.1	antisense	-	-	-	-
AC007620.3	chr3	179396961	179399191	+	ENSG00000242539.2	antisense	-	-	-	-
AC007743.1	chr2	56173534	56185770	-	ENSG00000233251.7	antisense	-	-	-	-
AC007773.2	chr19	32390050	32405560	-	ENSG00000267213.4	antisense	-	-	-	-
AC007879.5	chr2	207239864	207529795	-	ENSG00000223725.6	antisense	-	-	-	-
AC007950.2	chr15	63500737	63503083	-	ENSG00000276651.1	lincRNA	-	-	-	-
AC007952.5	chr17	19092974	19096837	+	ENSG00000228157.4	processed_transcript	-	-	-	-
AC007969.5	chr2	171517270	171517716	-	ENSG00000233762.3	processed_pseudogene	-	-	-	-
AC008063.2	chr2	162073256	162075169	+	ENSG00000230918.1	antisense	-	-	-	-
AC008065.1	chr2	171374931	171375278	-	ENSG00000224553.1	processed_pseudogene	-	-	-	-
AC008073.7	chr2	24165884	24175005	-	ENSG00000232642.1	antisense	-	-	-	-
AC008073.9	chr2	24199839	24201698	-	ENSG00000223754.1	antisense	-	-	-	-
AC008132.13	chr22	18846811	18861049	+	ENSG00000161103.11	transcribed_processed_pseudogene	-	-	-	-
AC008268.1	chr2	95666084	95668715	+	ENSG00000235584.2	lincRNA	-	-	-	-
AC008280.1	chr2	54029552	54030682	-	ENSG00000235937.1	processed_pseudogene	-	-	-	-
AC008280.3	chr2	54079974	54080280	-	ENSG00000241114.1	processed_pseudogene	-	-	-	-
AC008592.3	chr5	95834424	95835046	-	ENSG00000251000.1	processed_pseudogene	-	-	-	-
AC008592.4	chr5	95835943	95852721	-	ENSG00000251409.1	lincRNA	-	-	-	-
AC008592.5	chr5	95861786	95874519	+	ENSG00000250362.1	processed_transcript	-	-	-	-
AC008592.8	chr5	95849309	95849855	+	ENSG00000272021.1	lincRNA	-	-	-	-
AC008694.3	chr5	157682985	157690878	-	ENSG00000253798.2	transcribed_unprocessed_pseudogene	-	-	-	-
AC008697.1	chr5	159310933	159805536	+	ENSG00000249738.8	antisense	-	-	-	-
AC008746.12	chr19	54438665	54439544	-	ENSG00000267838.2	lincRNA	-	-	-	-
AC008753.4	chr19	53788782	53789168	+	ENSG00000269564.1	lincRNA	-	-	-	-
AC008937.2	chr5	56842016	56862164	-	ENSG00000237705.1	antisense	-	-	-	-
AC008937.3	chr5	56900041	56910714	-	ENSG00000225230.1	antisense	-	-	-	-
AC008940.1	chr5	56770799	56772303	+	ENSG00000228650.2	lincRNA	-	-	-	-
AC008984.2	chr19	54308915	54337168	-	ENSG00000275210.1	processed_transcript	-	-	-	-
AC008984.7	chr19	54301758	54306026	-	ENSG00000234436.1	unprocessed_pseudogene	-	-	-	-
AC008985.1	chr19	47661657	47663895	-	ENSG00000278999.1	TEC	-	-	-	-
AC009014.3	chr5	136191468	136193134	-	ENSG00000271824.1	protein_coding	-	-	-	-
AC009133.12	chr16	29808636	29821252	-	ENSG00000238045.9	antisense	-	-	-	-
AC009133.17	chr16	29745247	29748299	+	ENSG00000260719.1	antisense	-	-	-	-
AC009166.7	chr16	51176066	51178898	+	ENSG00000280344.1	TEC	-	-	-	-
AC009228.1	chr2	24214381	24221516	+	ENSG00000242628.5	antisense	-	-	-	-
AC009229.5	chr2	38203363	38239590	-	ENSG00000227292.1	lincRNA	-	-	-	-
AC009237.11	chr2	95536117	95536495	-	ENSG00000236431.1	processed_pseudogene	-	-	-	-
AC009237.16	chr2	95641634	95641980	-	ENSG00000236750.1	processed_pseudogene	-	-	-	-
AC009237.8	chr2	95525345	95532405	+	ENSG00000229689.3	transcribed_unprocessed_pseudogene	-	-	-	-
AC009299.2	chr2	161222785	161308303	-	ENSG00000235724.8	antisense	-	-	-	-
AC009303.2	chr2	118014174	118015673	+	ENSG00000279227.1	TEC	-	-	-	-
AC009404.2	chr2	117833937	117841658	+	ENSG00000236255.1	lincRNA	-	-	-	-
AC009480.3	chr2	147899401	147902956	-	ENSG00000223911.1	antisense	-	-	-	-
AC009501.4	chr2	63043922	63048640	-	ENSG00000231609.5	antisense	-	-	-	-
AC009502.4	chr2	219685381	219737937	+	ENSG00000227308.2	lincRNA	-	-	-	-
AC009506.1	chr2	159615296	159617082	+	ENSG00000224152.1	antisense	-	-	-	-
AC009508.1	chr7	23891704	23897335	-	ENSG00000227930.1	lincRNA	-	-	-	-
AC009531.2	chr7	35258381	35259729	-	ENSG00000226063.1	lincRNA	-	-	-	-
AC009948.5	chr2	178413939	178440243	+	ENSG00000223960.6	antisense	-	-	-	-
AC009950.2	chr2	230121370	230174223	+	ENSG00000225963.7	antisense	-	-	-	-
AC009955.8	chr2	219625059	219626693	-	ENSG00000228973.1	antisense	-	-	-	-
AC009961.3	chr2	159670708	159712435	-	ENSG00000226266.6	lincRNA	-	-	-	-
AC009967.3	chr2	169790093	169790885	+	ENSG00000214369.2	processed_pseudogene	-	-	-	-
AC010127.3	chr2	165957399	166301784	+	ENSG00000236107.7	antisense	-	-	-	-
AC010150.1	chr2	25856461	25856966	-	ENSG00000218682.1	processed_pseudogene	-	-	-	-
AC010226.4	chr5	115602057	115620659	+	ENSG00000249249.1	antisense	-	-	-	-
AC010240.2	chr5	132942932	132945050	+	ENSG00000235253.1	processed_pseudogene	-	-	-	-
AC010468.1	chr5	111192226	111193042	-	ENSG00000214784.4	processed_pseudogene	-	-	-	-
AC010524.2	chr19	49368705	49388081	-	ENSG00000268686.1	antisense	-	-	-	-
AC010524.4	chr19	49356152	49357769	+	ENSG00000268157.1	antisense	-	-	-	-
AC010547.9	chr16	71447600	71489311	-	ENSG00000261611.5	protein_coding	-	-	-	-
AC010642.2	chr19	58319277	58320489	+	ENSG00000269794.1	processed_pseudogene	-	-	-	-
AC010731.2	chr2	206606497	206609812	-	ENSG00000228577.1	antisense	-	-	-	-
AC010733.5	chr2	60938204	60938604	-	ENSG00000232713.2	processed_pseudogene	-	-	-	-
AC010746.3	chr2	197311393	197312740	+	ENSG00000225979.1	antisense	-	-	-	-
AC010761.13	chr17	28670054	28672804	-	ENSG00000265205.1	antisense	-	-	-	-
AC010761.8	chr17	28721487	28722877	-	ENSG00000264577.1	antisense	-	-	-	-
AC010761.9	chr17	28745569	28747652	-	ENSG00000265474.1	antisense	-	-	-	-
AC010872.1	chr2	21023496	21024170	+	ENSG00000280390.1	TEC	-	-	-	-
AC010883.5	chr2	43229573	43233394	+	ENSG00000234936.1	antisense	-	-	-	-
AC010900.2	chr2	202924609	202925904	+	ENSG00000232479.2	processed_pseudogene	-	-	-	-
AC010969.1	chr2	10003158	10006030	-	ENSG00000188525.3	antisense	-	-	-	-
AC010980.2	chr2	222318275	222352989	+	ENSG00000237732.9	transcribed_unprocessed_pseudogene	-	-	-	-
AC011239.1	chr2	23507043	23524344	-	ENSG00000224361.1	antisense	-	-	-	-
AC011239.2	chr2	23616499	23617987	-	ENSG00000279526.1	TEC	-	-	-	-
AC011242.5	chr2	43680465	43681622	-	ENSG00000229695.1	processed_pseudogene	-	-	-	-
AC011286.1	chr2	236733382	236754363	+	ENSG00000232328.1	lincRNA	-	-	-	-
AC011294.3	chr7	46673785	46759851	-	ENSG00000233539.5	lincRNA	-	-	-	-
AC011298.2	chr2	240686334	240690414	+	ENSG00000219159.4	lincRNA	-	-	-	-
AC011330.13	chr15	43642389	43643023	-	ENSG00000275601.1	sense_intronic	-	-	-	-
AC011330.5	chr15	43663654	43684339	-	ENSG00000249839.1	unprocessed_pseudogene	-	-	-	-
AC011380.8	chr5	140569962	140594570	-	ENSG00000283602.1	transcribed_unitary_pseudogene	-	-	-	-
AC011551.3	chr19	46547056	46600861	-	ENSG00000268423.4	sense_intronic	-	-	-	-
AC011558.5	chr19	1038727	1039064	-	ENSG00000279753.1	TEC	-	-	-	-
AC011747.3	chr2	8543592	8575501	-	ENSG00000231435.1	lincRNA	-	-	-	-
AC011747.6	chr2	8600892	8622942	-	ENSG00000231083.1	lincRNA	-	-	-	-
AC011816.1	chr3	36880184	36880729	-	ENSG00000234073.1	processed_pseudogene	-	-	-	-
AC011893.3	chr2	135820191	135823087	+	ENSG00000226806.1	antisense	-	-	-	-
AC011997.1	chr2	197693106	197774823	+	ENSG00000222017.1	antisense	-	-	-	-
AC011999.1	chr2	135897955	135898978	-	ENSG00000214070.3	processed_pseudogene	-	-	-	-
AC012074.2	chr2	25369136	25375845	-	ENSG00000235072.2	lincRNA	-	-	-	-
AC012146.7	chr17	5111468	5115004	+	ENSG00000234327.7	processed_transcript	-	-	-	-
AC012358.4	chr2	55224280	55225908	+	ENSG00000227799.1	processed_pseudogene	-	-	-	-
AC012358.7	chr2	55214387	55216126	-	ENSG00000203327.2	antisense	-	-	-	-
AC012358.8	chr2	55282350	55346049	+	ENSG00000240401.8	antisense	-	-	-	-
AC012360.6	chr2	105363038	105378839	+	ENSG00000238273.3	antisense	-	-	-	-
AC012363.4	chr2	120174885	120216544	-	ENSG00000224789.1	antisense	-	-	-	-
AC012370.3	chr2	65439888	65456571	-	ENSG00000234255.8	lincRNA	-	-	-	-
AC012462.2	chr2	215453707	215463871	+	ENSG00000225166.1	lincRNA	-	-	-	-
AC012499.1	chr2	177698429	177723289	+	ENSG00000229941.5	antisense	-	-	-	-
AC012506.2	chr2	23347654	23351864	+	ENSG00000233714.1	lincRNA	-	-	-	-
AC012513.4	chr2	216174896	216176032	-	ENSG00000236478.2	processed_pseudogene	-	-	-	-
AC012531.25	chr12	54019910	54022589	+	ENSG00000260597.1	lincRNA	-	-	-	-
AC012668.2	chr2	215533133	215713895	+	ENSG00000237525.6	lincRNA	-	-	-	-
AC013264.2	chr2	197197991	197199273	+	ENSG00000231621.1	antisense	-	-	-	-
AC013267.1	chr2	24968958	24969224	-	ENSG00000237953.1	processed_pseudogene	-	-	-	-
AC013463.2	chr2	164840672	165208261	+	ENSG00000236283.4	antisense	-	-	-	-
AC013472.4	chr2	26950308	27009807	-	ENSG00000230286.1	antisense	-	-	-	-
AC013480.2	chr2	42015625	42025302	-	ENSG00000226398.1	antisense	-	-	-	-
AC015849.16	chr17	35893707	35911023	-	ENSG00000270977.1	lincRNA	-	-	-	-
AC015849.19	chr17	35816717	35830293	-	ENSG00000270871.1	antisense	-	-	-	-
AC015849.2	chr17	35868967	35885863	+	ENSG00000270240.2	antisense	-	-	-	-
AC015923.1	chr17	63381231	63414312	-	ENSG00000226797.1	antisense	-	-	-	-
AC015971.2	chr2	86562070	86618766	+	ENSG00000228363.2	antisense	-	-	-	-
AC015977.6	chr2	26671254	26674464	-	ENSG00000225378.1	antisense	-	-	-	-
AC016292.3	chr17	1858039	1858446	-	ENSG00000108958.4	processed_pseudogene	-	-	-	-
AC016629.3	chr19	58593896	58599355	-	ENSG00000269600.1	antisense	-	-	-	-
AC016644.1	chr5	56941307	56947152	+	ENSG00000235635.1	antisense	-	-	-	-
AC016712.2	chr2	222726457	222726834	+	ENSG00000235225.1	processed_pseudogene	-	-	-	-
AC016722.4	chr2	46899275	46908678	+	ENSG00000228925.1	antisense	-	-	-	-
AC016738.3	chr2	100972648	100977161	-	ENSG00000230140.5	antisense	-	-	-	-
AC016739.2	chr2	176200908	176201252	-	ENSG00000218175.2	processed_pseudogene	-	-	-	-
AC016745.3	chr2	113424495	113425324	+	ENSG00000234997.1	antisense	-	-	-	-
AC016747.3	chr2	61141592	61144969	-	ENSG00000212978.6	processed_transcript	-	-	-	-
AC016757.3	chr2	238224552	238231677	-	ENSG00000186235.10	processed_transcript	-	-	-	-
AC016910.1	chr2	143937073	143964156	+	ENSG00000232377.1	antisense	-	-	-	-
AC016995.3	chr2	38406719	38515740	-	ENSG00000231367.5	lincRNA	-	-	-	-
AC017002.1	chr2	111491273	111570974	+	ENSG00000240350.2	lincRNA	-	-	-	-
AC017002.2	chr2	111491943	111494811	-	ENSG00000224959.1	lincRNA	-	-	-	-
AC017006.2	chr2	46078015	46078828	-	ENSG00000232696.1	antisense	-	-	-	-
AC017074.1	chr2	113669166	113673191	+	ENSG00000233479.1	lincRNA	-	-	-	-
AC017074.2	chr2	113677702	113704078	-	ENSG00000227359.1	lincRNA	-	-	-	-
AC017079.3	chr2	128203361	128203775	+	ENSG00000185631.7	processed_pseudogene	-	-	-	-
AC017104.2	chr2	231452195	231453153	+	ENSG00000233538.1	lincRNA	-	-	-	-
AC017104.4	chr2	231437101	231437421	-	ENSG00000230047.1	processed_pseudogene	-	-	-	-
AC017104.6	chr2	231388976	231394991	+	ENSG00000224376.1	processed_transcript	-	-	-	-
AC017116.11	chr7	44064908	44066079	+	ENSG00000239775.1	sense_overlapping	-	-	-	-
AC018641.7	chr7	32456963	32457758	-	ENSG00000226468.2	processed_pseudogene	-	-	-	-
AC018890.6	chr2	174547141	174774827	+	ENSG00000236449.1	antisense	-	-	-	-
AC019070.1	chr2	148295656	148296679	-	ENSG00000224007.1	processed_pseudogene	-	-	-	-
AC019084.7	chr7	158719730	158720161	+	ENSG00000228030.2	processed_pseudogene	-	-	-	-
AC019097.7	chr2	99102018	99102752	+	ENSG00000231822.1	processed_pseudogene	-	-	-	-
AC019109.1	chr2	224169664	224171537	+	ENSG00000224826.1	processed_pseudogene	-	-	-	-
AC019181.3	chr2	164687287	164687596	-	ENSG00000224331.2	processed_pseudogene	-	-	-	-
AC019330.1	chr2	198493242	198772356	-	ENSG00000225421.2	lincRNA	-	-	-	-
AC020550.7	chr2	197533803	197533965	+	ENSG00000231699.1	processed_pseudogene	-	-	-	-
AC020951.1	chr19	11856032	11858302	+	ENSG00000278897.1	TEC	-	-	-	-
AC021016.7	chr2	218354075	218354572	+	ENSG00000230580.1	processed_pseudogene	-	-	-	-
AC021188.4	chr2	96307263	96321731	-	ENSG00000230747.1	antisense	-	-	-	-
AC021218.2	chr7	155962632	155966343	+	ENSG00000204876.4	lincRNA	-	-	-	-
AC022007.5	chr3	10006418	10011209	-	ENSG00000206567.9	lincRNA	-	-	-	-
AC022154.7	chr19	48619272	48624132	-	ENSG00000268093.1	antisense	-	-	-	-
AC022182.2	chr8	60937705	60939871	-	ENSG00000255397.1	processed_pseudogene	-	-	-	-
AC022431.3	chr5	56536583	56537826	-	ENSG00000234553.1	sense_intronic	-	-	-	-
AC023271.1	chr2	203061314	203062403	-	ENSG00000228513.1	processed_pseudogene	-	-	-	-
AC023590.1	chr8	118282139	118400605	+	ENSG00000225885.6	antisense	-	-	-	-
AC024028.1	chr7	3083252	3086421	-	ENSG00000228334.1	lincRNA	-	-	-	-
AC024560.3	chr3	197578213	197627906	-	ENSG00000214135.8	transcribed_unprocessed_pseudogene	-	-	-	-
AC024704.2	chr2	113829390	113831119	-	ENSG00000244063.1	lincRNA	-	-	-	-
AC024937.2	chr3	196044695	196045254	+	ENSG00000228413.1	processed_pseudogene	-	-	-	-
AC024937.4	chr3	195996738	195998233	+	ENSG00000231464.1	processed_pseudogene	-	-	-	-
AC024937.6	chr3	195937243	195938739	+	ENSG00000231443.2	processed_pseudogene	-	-	-	-
AC025165.8	chr12	57612118	57619638	-	ENSG00000224713.4	antisense	-	-	-	-
AC025171.1	chr5	43041575	43045390	+	ENSG00000215068.7	antisense	-	-	-	-
AC025335.1	chr17	7913324	7916276	-	ENSG00000179859.9	protein_coding	-	-	-	-
AC026904.1	chr8	48590401	48594621	+	ENSG00000233858.4	lincRNA	-	-	-	-
AC026954.6	chr17	7330452	7335413	+	ENSG00000224647.2	unitary_pseudogene	-	-	-	-
AC034220.3	chr5	132311285	132369916	-	ENSG00000233006.6	processed_transcript	-	-	-	-
AC034228.2	chr5	132011448	132013199	+	ENSG00000231585.1	antisense	-	-	-	-
AC034228.3	chr5	132003592	132007022	+	ENSG00000223548.1	antisense	-	-	-	-
AC034228.4	chr5	131944408	131968220	+	ENSG00000234758.1	antisense	-	-	-	-
AC051649.12	chr11	1864177	1866667	+	ENSG00000249086.1	sense_overlapping	-	-	-	-
AC053503.4	chr2	219388496	219403633	+	ENSG00000229525.1	antisense	-	-	-	-
AC058791.1	chr7	130876809	130913310	-	ENSG00000226380.9	lincRNA	-	-	-	-
AC061961.2	chr2	154696462	154697817	-	ENSG00000235949.1	antisense	-	-	-	-
AC061992.2	chr17	78315729	78347798	+	ENSG00000267737.1	lincRNA	-	-	-	-
AC062017.1	chr2	239401436	239402364	+	ENSG00000222020.2	antisense	-	-	-	-
AC062029.1	chr2	88627539	88631821	+	ENSG00000234028.3	antisense	-	-	-	-
AC062032.1	chr2	146879909	146898218	+	ENSG00000227902.2	lincRNA	-	-	-	-
AC063976.1	chr5	132147491	132149559	-	ENSG00000227616.1	unprocessed_pseudogene	-	-	-	-
AC063976.7	chr5	132199456	132203487	+	ENSG00000224431.1	processed_pseudogene	-	-	-	-
AC064836.3	chr2	202336024	202336727	-	ENSG00000226261.1	processed_pseudogene	-	-	-	-
AC064852.4	chr2	232760146	232767949	-	ENSG00000241409.1	3prime_overlapping_ncRNA	-	-	-	-
AC064871.3	chr2	183083405	183108519	-	ENSG00000224643.5	antisense	-	-	-	-
AC064874.1	chr2	235773855	235783387	-	ENSG00000222007.6	antisense	-	-	-	-
AC067945.4	chr2	191021526	191032314	+	ENSG00000231858.5	processed_transcript	-	-	-	-
AC067959.1	chr2	21221175	21970959	+	ENSG00000233005.1	lincRNA	-	-	-	-
AC068134.10	chr2	232343116	232343903	+	ENSG00000251485.1	processed_pseudogene	-	-	-	-
AC068138.1	chr2	226180044	226185371	-	ENSG00000235070.3	lincRNA	-	-	-	-
AC068196.1	chr2	181076051	181105968	-	ENSG00000238171.1	lincRNA	-	-	-	-
AC068490.1	chr2	21942178	21965680	-	ENSG00000228999.2	lincRNA	-	-	-	-
AC068491.2	chr2	111265283	111279880	+	ENSG00000229118.1	lincRNA	-	-	-	-
AC068499.10	chr19	18204730	18220480	+	ENSG00000268650.3	antisense	-	-	-	-
AC068522.4	chr8	58588420	58588764	-	ENSG00000242970.2	processed_pseudogene	-	-	-	-
AC068580.5	chr11	1763009	1763749	-	ENSG00000229512.1	sense_intronic	-	-	-	-
AC068580.6	chr11	1760348	1762486	+	ENSG00000235027.1	antisense	-	-	-	-
AC068831.10	chr15	91022619	91036611	+	ENSG00000214432.9	antisense	-	-	-	-
AC068831.15	chr15	90920218	90921186	-	ENSG00000259661.1	antisense	-	-	-	-
AC068831.16	chr15	91022766	91023200	+	ENSG00000278514.1	lincRNA	-	-	-	-
AC068831.6	chr15	90952239	90955225	-	ENSG00000258384.1	antisense	-	-	-	-
AC069257.8	chr3	196250542	196251654	+	ENSG00000228028.2	antisense	-	-	-	-
AC069363.1	chr17	36072866	36090134	+	ENSG00000277089.4	antisense	-	-	-	-
AC069513.4	chr3	195655565	195657927	-	ENSG00000229178.1	lincRNA	-	-	-	-
AC072052.7	chr7	6490793	6491098	-	ENSG00000231359.3	processed_pseudogene	-	-	-	-
AC073043.1	chr2	199867396	199911159	-	ENSG00000232732.9	processed_transcript	-	-	-	-
AC073052.1	chr2	224499387	224500100	-	ENSG00000228446.2	processed_pseudogene	-	-	-	-
AC073063.10	chr7	99442890	99443496	-	ENSG00000228335.1	processed_pseudogene	-	-	-	-
AC073072.5	chr7	22725395	22727620	-	ENSG00000179428.2	antisense	-	-	-	-
AC073115.7	chr7	45990905	46000898	+	ENSG00000229628.1	lincRNA	-	-	-	-
AC073130.1	chr7	116275606	116286734	-	ENSG00000237870.6	processed_transcript	-	-	-	-
AC073130.3	chr7	116237929	116327896	-	ENSG00000243243.5	antisense	-	-	-	-
AC073150.6	chr7	27491682	27492765	-	ENSG00000235574.1	processed_pseudogene	-	-	-	-
AC073254.1	chr2	232580948	232611971	-	ENSG00000237126.8	antisense	-	-	-	-
AC073257.2	chr2	120542909	120544326	-	ENSG00000237614.1	lincRNA	-	-	-	-
AC073283.4	chr2	47192405	47345074	-	ENSG00000234690.6	lincRNA	-	-	-	-
AC073283.7	chr2	47067822	47071204	+	ENSG00000225187.1	antisense	-	-	-	-
AC073316.1	chr7	3264032	3302452	-	ENSG00000236708.1	antisense	-	-	-	-
AC073326.3	chr7	110724159	110725825	-	ENSG00000228540.1	sense_intronic	-	-	-	-
AC073343.13	chr7	6663974	6708901	+	ENSG00000228010.5	antisense	-	-	-	-
AC073410.1	chr2	202520401	202520989	+	ENSG00000236047.1	processed_pseudogene	-	-	-	-
AC073415.2	chr2	108878308	108878460	+	ENSG00000227470.1	processed_pseudogene	-	-	-	-
AC073464.7	chr2	94760774	94761116	-	ENSG00000232502.1	processed_pseudogene	-	-	-	-
AC073635.5	chr7	77246340	77258123	-	ENSG00000250990.1	antisense	-	-	-	-
AC073636.1	chr2	176845993	176849428	-	ENSG00000227098.1	lincRNA	-	-	-	-
AC073834.3	chr2	177603089	177618572	+	ENSG00000237655.1	antisense	-	-	-	-
AC073842.19	chr7	100130964	100140439	+	ENSG00000235077.1	antisense	-	-	-	-
AC073850.6	chr7	80662331	80662585	-	ENSG00000229436.1	processed_pseudogene	-	-	-	-
AC073957.15	chr7	1029025	1043891	+	ENSG00000225146.1	antisense	-	-	-	-
AC073987.1	chr2	103109759	103176260	-	ENSG00000229209.1	lincRNA	-	-	-	-
AC074117.10	chr2	27356246	27367622	+	ENSG00000234072.1	antisense	-	-	-	-
AC074117.13	chr2	27455156	27455862	+	ENSG00000235267.1	processed_pseudogene	-	-	-	-
AC074212.5	chr19	45764785	45769806	+	ENSG00000259605.3	processed_transcript	-	-	-	-
AC074212.6	chr19	45767796	45772504	+	ENSG00000267395.5	antisense	-	-	-	-
AC074286.1	chr2	177283508	177392691	-	ENSG00000213963.6	sense_overlapping	-	-	-	-
AC074289.1	chr2	64143239	64252859	+	ENSG00000225889.7	antisense	-	-	-	-
AC074367.1	chr2	63232453	63233577	-	ENSG00000233716.1	processed_pseudogene	-	-	-	-
AC074389.5	chr7	1620654	1621405	+	ENSG00000231476.1	lincRNA	-	-	-	-
AC074391.1	chr2	65436711	66084639	+	ENSG00000204929.12	processed_transcript	-	-	-	-
AC078842.3	chr7	137344930	137354483	-	ENSG00000228031.2	lincRNA	-	-	-	-
AC078852.1	chr4	1356581	1358075	+	ENSG00000254094.1	sense_intronic	-	-	-	-
AC078852.2	chr4	1358479	1359461	+	ENSG00000253399.1	sense_intronic	-	-	-	-
AC078883.3	chr2	172464262	172466022	-	ENSG00000232788.1	antisense	-	-	-	-
AC079135.1	chr2	236167447	236294927	+	ENSG00000233611.3	antisense	-	-	-	-
AC079145.4	chr2	19990217	20004210	+	ENSG00000227210.1	antisense	-	-	-	-
AC079305.11	chr2	176990508	177164516	-	ENSG00000236501.5	lincRNA	-	-	-	-
AC079354.3	chr2	202113626	202117058	-	ENSG00000222035.3	antisense	-	-	-	-
AC079354.6	chr2	202231696	202231849	+	ENSG00000224463.1	processed_pseudogene	-	-	-	-
AC079448.1	chr7	7293508	7293880	+	ENSG00000236712.1	processed_pseudogene	-	-	-	-
AC079610.1	chr2	212581357	213021545	-	ENSG00000273118.1	sense_overlapping	-	-	-	-
AC079741.2	chr7	112446164	112446375	-	ENSG00000180019.5	processed_pseudogene	-	-	-	-
AC079779.4	chr2	286419	301515	+	ENSG00000228643.1	processed_transcript	-	-	-	-
AC079779.7	chr2	197569	202605	+	ENSG00000227061.1	antisense	-	-	-	-
AC083843.1	chr8	134792020	134798272	-	ENSG00000259820.1	lincRNA	-	-	-	-
AC083843.2	chr8	134832747	134834482	+	ENSG00000254028.1	lincRNA	-	-	-	-
AC083864.3	chr7	36029611	36055431	+	ENSG00000232930.1	lincRNA	-	-	-	-
AC083864.4	chr7	36079084	36085736	+	ENSG00000205745.2	lincRNA	-	-	-	-
AC083873.4	chr7	133169416	133170514	-	ENSG00000237821.1	processed_pseudogene	-	-	-	-
AC083884.8	chr7	74688939	74729001	-	ENSG00000232729.7	processed_transcript	-	-	-	-
AC083900.1	chr2	207868582	207869915	-	ENSG00000225111.1	sense_intronic	-	-	-	-
AC083949.1	chr2	42143238	42170301	-	ENSG00000224875.2	antisense	-	-	-	-
AC084219.4	chr19	44105463	44113145	-	ENSG00000186019.10	antisense	-	-	-	-
AC084809.2	chr17	32876759	32878637	+	ENSG00000226377.1	antisense	-	-	-	-
AC084809.3	chr17	32905662	32906584	+	ENSG00000236377.1	lincRNA	-	-	-	-
AC087163.2	chr17	18010643	18011822	+	ENSG00000232344.2	processed_pseudogene	-	-	-	-
AC087491.2	chr17	39619613	39622513	+	ENSG00000214546.3	lincRNA	-	-	-	-
AC087501.1	chr17	9452197	9470014	+	ENSG00000225751.2	antisense	-	-	-	-
AC090587.5	chr11	3854318	3855509	-	ENSG00000228661.1	antisense	-	-	-	-
AC090616.2	chr17	32141226	32143135	-	ENSG00000214708.4	antisense	-	-	-	-
AC090617.1	chr17	2213697	2214414	+	ENSG00000236838.2	antisense	-	-	-	-
AC090804.1	chr11	3892398	3892887	-	ENSG00000230593.3	processed_pseudogene	-	-	-	-
AC091132.1	chr17	45452844	45464065	+	ENSG00000236234.1	antisense	-	-	-	-
AC091133.1	chr17	48931791	48937100	+	ENSG00000230532.1	antisense	-	-	-	-
AC091153.4	chr17	4673830	4696831	+	ENSG00000235085.3	antisense	-	-	-	-
AC091177.1	chr17	30956280	30956961	-	ENSG00000230113.1	antisense	-	-	-	-
AC091633.2	chr3	195554610	195555083	+	ENSG00000236844.1	processed_pseudogene	-	-	-	-
AC091729.7	chr7	1074450	1078036	+	ENSG00000224079.1	antisense	-	-	-	-
AC091729.8	chr7	1080863	1082178	+	ENSG00000226291.1	antisense	-	-	-	-
AC091729.9	chr7	1160374	1165267	+	ENSG00000229043.2	antisense	-	-	-	-
AC092066.1	chr19	44664131	44666158	+	ENSG00000279095.1	TEC	-	-	-	-
AC092066.6	chr19	44765148	44765464	+	ENSG00000236807.1	processed_pseudogene	-	-	-	-
AC092071.1	chr19	40946347	40947450	+	ENSG00000269353.1	sense_intronic	-	-	-	-
AC092106.1	chr2	106253231	106253717	-	ENSG00000224061.1	processed_pseudogene	-	-	-	-
AC092155.4	chr2	62590255	62662654	-	ENSG00000226622.5	antisense	-	-	-	-
AC092159.2	chr2	677186	697371	+	ENSG00000233296.1	antisense	-	-	-	-
AC092159.3	chr2	692083	693235	-	ENSG00000233970.1	antisense	-	-	-	-
AC092162.1	chr2	176724268	176819310	-	ENSG00000230552.5	lincRNA	-	-	-	-
AC092171.4	chr7	5475804	5479811	+	ENSG00000230733.2	lincRNA	-	-	-	-
AC092301.3	chr19	45830164	45831108	+	ENSG00000269148.1	antisense	-	-	-	-
AC092431.3	chr2	69700192	69713847	-	ENSG00000231024.1	lincRNA	-	-	-	-
AC092484.1	chr2	145569294	145588024	-	ENSG00000225107.1	lincRNA	-	-	-	-
AC092535.3	chr4	1151372	1153701	+	ENSG00000227189.2	antisense	-	-	-	-
AC092580.1	chr2	7736438	7737095	-	ENSG00000229405.1	processed_pseudogene	-	-	-	-
AC092614.2	chr2	191229165	191246172	-	ENSG00000227542.1	lincRNA	-	-	-	-
AC092641.2	chr2	170077224	170078294	-	ENSG00000227176.1	processed_pseudogene	-	-	-	-
AC092651.1	chr2	87118534	87120980	-	ENSG00000230395.1	unprocessed_pseudogene	-	-	-	-
AC092652.1	chr2	143640756	143656179	-	ENSG00000231758.2	antisense	-	-	-	-
AC092667.2	chr2	100104919	100107504	+	ENSG00000230393.1	antisense	-	-	-	-
AC092687.4	chr2	10847577	10854955	+	ENSG00000232056.1	lincRNA	-	-	-	-
AC092687.5	chr2	10589166	10604830	+	ENSG00000234818.1	antisense	-	-	-	-
AC093110.3	chr2	54661011	54680045	-	ENSG00000238018.2	antisense	-	-	-	-
AC093159.1	chr2	62463127	62464070	+	ENSG00000228541.1	lincRNA	-	-	-	-
AC093162.5	chr2	85315041	85316529	+	ENSG00000246575.2	unprocessed_pseudogene	-	-	-	-
AC093323.3	chr4	6673451	6676047	+	ENSG00000170846.16	lincRNA	-	-	-	-
AC093326.3	chr2	558204	578145	+	ENSG00000233633.1	lincRNA	-	-	-	-
AC093495.4	chr3	14144637	14165978	+	ENSG00000228242.6	antisense	-	-	-	-
AC093609.1	chr2	43097746	43102691	-	ENSG00000230587.1	lincRNA	-	-	-	-
AC093627.10	chr7	149597	155465	+	ENSG00000240859.1	lincRNA	-	-	-	-
AC093627.8	chr7	77038	81178	+	ENSG00000242611.2	lincRNA	-	-	-	-
AC093642.1	chr2	242001209	242006013	+	ENSG00000280119.1	TEC	-	-	-	-
AC093673.5	chr7	143379692	143380495	-	ENSG00000232533.1	antisense	-	-	-	-
AC093690.1	chr2	28307691	28310459	-	ENSG00000223522.1	antisense	-	-	-	-
AC093702.1	chr2	45013214	45013668	-	ENSG00000231156.1	lincRNA	-	-	-	-
AC093716.1	chr7	84847877	84848253	-	ENSG00000235243.1	processed_pseudogene	-	-	-	-
AC093732.1	chr2	47035279	47040524	-	ENSG00000233845.1	antisense	-	-	-	-
AC093818.1	chr2	172480840	172556596	-	ENSG00000225205.5	antisense	-	-	-	-
AC093838.4	chr2	131492813	131521573	+	ENSG00000152117.17	transcribed_processed_pseudogene	-	-	-	-
AC096574.5	chr2	237612977	237626525	+	ENSG00000227107.1	lincRNA	-	-	-	-
AC096579.13	chr2	88811186	88825207	-	ENSG00000283270.1	transcribed_unprocessed_pseudogene	-	-	-	-
AC097359.2	chr3	37196204	37196666	+	ENSG00000231449.1	processed_pseudogene	-	-	-	-
AC097374.2	chr2	94867486	94947341	-	ENSG00000259848.8	transcribed_unprocessed_pseudogene	-	-	-	-
AC097381.1	chr4	7939001	7940296	+	ENSG00000228919.5	lincRNA	-	-	-	-
AC097468.4	chr2	219002215	219015721	+	ENSG00000224090.1	antisense	-	-	-	-
AC097724.3	chr2	28708953	28736205	-	ENSG00000226833.5	antisense	-	-	-	-
AC098824.6	chr2	42826322	42827617	-	ENSG00000232202.1	processed_pseudogene	-	-	-	-
AC098828.2	chr2	20063856	20106829	-	ENSG00000234378.1	lincRNA	-	-	-	-
AC098831.4	chr2	202773720	202774360	-	ENSG00000240761.1	processed_pseudogene	-	-	-	-
AC098872.3	chr2	191793425	191820250	+	ENSG00000225884.2	antisense	-	-	-	-
AC099535.4	chr3	27486247	27486617	+	ENSG00000230807.1	processed_pseudogene	-	-	-	-
AC099684.1	chr17	2017716	2020706	+	ENSG00000228133.2	antisense	-	-	-	-
AC099850.1	chr17	59106598	59118267	+	ENSG00000224738.1	antisense	-	-	-	-
AC100802.3	chr8	20079305	20118442	+	ENSG00000253775.1	antisense	-	-	-	-
AC100830.3	chr15	64701248	64719602	+	ENSG00000259635.1	antisense	-	-	-	-
AC100830.4	chr15	64695041	64695594	+	ENSG00000265967.1	antisense	-	-	-	-
AC103563.8	chr2	95025193	95026709	-	ENSG00000233850.1	antisense	-	-	-	-
AC104076.3	chr2	180979427	180980090	-	ENSG00000236153.1	antisense	-	-	-	-
AC104134.2	chr2	88538720	88575610	+	ENSG00000225420.1	antisense	-	-	-	-
AC104532.4	chr19	5911578	5913899	-	ENSG00000267571.1	antisense	-	-	-	-
AC104634.3	chr2	231559903	231560364	+	ENSG00000231494.1	processed_pseudogene	-	-	-	-
AC104651.2	chr2	111940302	111941036	-	ENSG00000225496.1	processed_pseudogene	-	-	-	-
AC104653.1	chr2	113831049	113843356	-	ENSG00000228857.2	lincRNA	-	-	-	-
AC104667.3	chr2	237591020	237595981	+	ENSG00000234949.2	antisense	-	-	-	-
AC104695.4	chr2	28448167	28450184	-	ENSG00000227938.1	lincRNA	-	-	-	-
AC104809.2	chr2	240981515	240986072	-	ENSG00000223991.1	antisense	-	-	-	-
AC104809.4	chr2	240954617	240967451	-	ENSG00000233392.5	processed_transcript	-	-	-	-
AC105393.1	chr2	388412	416885	+	ENSG00000236856.1	lincRNA	-	-	-	-
AC105393.2	chr2	421057	422303	+	ENSG00000226277.1	lincRNA	-	-	-	-
AC105461.1	chr2	231978488	232015720	-	ENSG00000227033.1	antisense	-	-	-	-
AC105760.3	chr2	237048599	237056167	-	ENSG00000124835.2	antisense	-	-	-	-
AC106786.1	chr5	123087248	123090299	-	ENSG00000223652.2	antisense	-	-	-	-
AC106869.2	chr2	47225794	47239225	+	ENSG00000226087.1	lincRNA	-	-	-	-
AC106900.6	chr2	173880865	173899428	-	ENSG00000224638.1	lincRNA	-	-	-	-
AC107079.1	chr2	237122910	237124097	-	ENSG00000224844.1	lincRNA	-	-	-	-
AC107983.4	chr17	18572752	18572961	+	ENSG00000227077.3	processed_pseudogene	-	-	-	-
AC108004.3	chr17	404468	414023	-	ENSG00000241525.4	antisense	-	-	-	-
AC108032.1	chr2	199872172	199872378	+	ENSG00000227004.2	processed_pseudogene	-	-	-	-
AC108142.1	chr4	181874438	182145249	-	ENSG00000177822.7	antisense	-	-	-	-
AC108448.2	chr11	3084393	3085443	-	ENSG00000236710.1	processed_pseudogene	-	-	-	-
AC108463.1	chr2	111195963	111206494	+	ENSG00000230499.1	lincRNA	-	-	-	-
AC108463.2	chr2	111203964	111206215	-	ENSG00000227992.1	processed_pseudogene	-	-	-	-
AC108488.4	chr2	3531813	3536873	-	ENSG00000242282.6	lincRNA	-	-	-	-
AC109333.10	chr17	5019214	5020093	-	ENSG00000227495.1	antisense	-	-	-	-
AC109631.1	chr15	38458760	38459540	-	ENSG00000259192.1	processed_pseudogene	-	-	-	-
AC110299.5	chr2	241478316	241478993	+	ENSG00000224232.1	processed_pseudogene	-	-	-	-
AC110781.3	chr7	1838586	1849931	+	ENSG00000176349.11	antisense	-	-	-	-
AC110926.4	chr2	127247258	127250082	+	ENSG00000226789.1	processed_pseudogene	-	-	-	-
AC113189.5	chr17	7581964	7584072	-	ENSG00000233223.2	antisense	-	-	-	-
AC114271.2	chr19	10333436	10336248	+	ENSG00000274425.1	antisense	-	-	-	-
AC114730.11	chr2	241724615	241725693	-	ENSG00000235351.1	antisense	-	-	-	-
AC114730.2	chr2	241844380	241845036	+	ENSG00000235151.1	lincRNA	-	-	-	-
AC114730.3	chr2	241808312	241812016	-	ENSG00000224272.2	antisense	-	-	-	-
AC114730.5	chr2	241800916	241801907	-	ENSG00000215023.2	antisense	-	-	-	-
AC114730.7	chr2	241754793	241755740	-	ENSG00000234793.1	antisense	-	-	-	-
AC114730.8	chr2	241734715	241735498	-	ENSG00000215692.2	antisense	-	-	-	-
AC114755.7	chr2	106369724	106378247	+	ENSG00000235486.1	unprocessed_pseudogene	-	-	-	-
AC114776.1	chr2	110633947	110634333	+	ENSG00000216867.2	processed_pseudogene	-	-	-	-
AC114812.8	chr2	233693434	233708699	-	ENSG00000224814.1	antisense	-	-	-	-
AC115522.3	chr19	43794309	43795658	-	ENSG00000268601.1	lincRNA	-	-	-	-
AC116366.5	chr5	132419416	132426714	-	ENSG00000238160.1	antisense	-	-	-	-
AC116366.6	chr5	132468890	132473043	-	ENSG00000234290.2	antisense	-	-	-	-
AC116609.1	chr2	724966	731224	-	ENSG00000227713.1	lincRNA	-	-	-	-
AC116609.3	chr2	741977	749856	+	ENSG00000231173.1	lincRNA	-	-	-	-
AC116614.1	chr2	949627	950274	-	ENSG00000235688.2	antisense	-	-	-	-
AC118345.1	chr2	66235377	66236213	-	ENSG00000227293.1	lincRNA	-	-	-	-
AC124944.3	chr3	195912049	195913986	+	ENSG00000226155.1	antisense	-	-	-	-
AC125232.1	chr2	87031815	87053069	-	ENSG00000231259.4	unprocessed_pseudogene	-	-	-	-
AC129492.6	chr17	8079482	8081565	+	ENSG00000214999.3	antisense	-	-	-	-
AC130469.1	chr19	8575079	8576170	-	ENSG00000279396.1	TEC	-	-	-	-
AC130469.2	chr19	8581160	8582715	+	ENSG00000267986.1	antisense	-	-	-	-
AC131056.3	chr17	36183235	36196471	+	ENSG00000274767.1	antisense	-	-	-	-
AC131097.4	chr2	241893985	241902551	-	ENSG00000216921.7	protein_coding	-	-	-	-
AC135048.13	chr16	30948386	30956511	+	ENSG00000261487.1	processed_transcript	-	-	-	-
AC135050.5	chr16	31065495	31069246	+	ENSG00000261124.1	antisense	-	-	-	-
AC135178.7	chr17	8318088	8318712	-	ENSG00000226871.1	antisense	-	-	-	-
AC136289.1	chr3	63741827	63827445	-	ENSG00000224479.6	transcribed_unitary_pseudogene	-	-	-	-
AC137723.5	chr17	81941869	81947601	+	ENSG00000235296.1	antisense	-	-	-	-
AC137932.4	chr16	89268104	89273044	+	ENSG00000268218.1	antisense	-	-	-	-
AC137932.5	chr16	89297508	89298317	+	ENSG00000260279.2	antisense	-	-	-	-
AC137932.6	chr16	89321133	89325110	+	ENSG00000261253.2	antisense	-	-	-	-
AC139099.4	chr17	83144131	83177607	+	ENSG00000262898.1	lincRNA	-	-	-	-
AC139099.5	chr17	83220527	83227721	-	ENSG00000262094.1	lincRNA	-	-	-	-
AC139099.6	chr17	83211996	83221190	+	ENSG00000262952.1	lincRNA	-	-	-	-
AC139099.7	chr17	83132647	83136150	-	ENSG00000279143.1	TEC	-	-	-	-
AC139887.4	chr4	764487	765074	-	ENSG00000233799.1	antisense	-	-	-	-
AC141586.5	chr16	2603350	2630494	+	ENSG00000215154.6	transcribed_unprocessed_pseudogene	-	-	-	-
AC141930.2	chr2	1572554	1580311	-	ENSG00000231482.2	lincRNA	-	-	-	-
AC141930.3	chr2	1552445	1554701	+	ENSG00000283766.1	lincRNA	-	-	-	-
AC142472.6	chr17	45146730	45148470	-	ENSG00000276728.1	lincRNA	-	-	-	-
AC142528.1	chr2	3519275	3523197	+	ENSG00000235078.1	antisense	-	-	-	-
AC144450.1	chr2	1546665	1620113	-	ENSG00000228613.1	antisense	-	-	-	-
AC144525.1	chr2	238788648	238789716	-	ENSG00000226992.1	lincRNA	-	-	-	-
AC144652.1	chr7	155295918	155297541	-	ENSG00000273117.1	lincRNA	-	-	-	-
AC144831.1	chr17	83104255	83106910	+	ENSG00000261888.1	lincRNA	-	-	-	-
AC144831.3	chr17	83098377	83098987	+	ENSG00000274370.1	lincRNA	-	-	-	-
AC145123.2	chr8	142638596	142640648	+	ENSG00000277332.1	antisense	-	-	-	-
AC145124.2	chr8	12194467	12196280	+	ENSG00000255495.1	antisense	-	-	-	-
AC145343.2	chr17	68096046	68101474	-	ENSG00000265055.1	lincRNA	-	-	-	-
AC145676.2	chr7	227554	229557	-	ENSG00000249852.1	TEC	-	-	-	-
AC147651.1	chr7	484107	496118	-	ENSG00000234471.1	lincRNA	-	-	-	-
AC147651.4	chr7	603185	608482	+	ENSG00000237181.1	antisense	-	-	-	-
AC147651.5	chr7	561958	565619	+	ENSG00000229380.1	antisense	-	-	-	-
AC156455.1	chr12	122063306	122068616	+	ENSG00000256546.1	processed_transcript	-	-	-	-
AC159540.1	chr2	97416165	97433527	-	ENSG00000230606.10	lincRNA	-	-	-	-
ACAA1	chr3	38103129	38137242	-	ENSG00000060971.17	protein_coding	ACAA|PTHIO|THIO	3p22.2	acetyl-CoA acyltransferase 1	This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
ACAA2	chr18	49782167	49813960	-	ENSG00000167315.17	protein_coding	DSAEC	18q21.1	acetyl-CoA acyltransferase 2	The encoded protein catalyzes the last step of the mitochondrial fatty acid beta-oxidation spiral. Unlike most mitochondrial matrix proteins, it contains a non-cleavable amino-terminal targeting signal. [provided by RefSeq, Jul 2008]
ACACA	chr17	37084988	37406818	-	ENSG00000278540.4	protein_coding	ACAC|ACACAD|ACC|ACC1|ACCA	17q12	acetyl-CoA carboxylase alpha	Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5 sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ACACB	chr12	109116595	109268226	+	ENSG00000076555.15	protein_coding	ACC-beta|ACC2|ACCB|HACC275	12q24.11	acetyl-CoA carboxylase beta	 Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis.  ACC-beta is thought to control fatty acid oxidation by means of the ability of malonyl-CoA to inhibit carnitine-palmitoyl-CoA transferase I, the rate-limiting step in fatty acid uptake and oxidation by mitochondria.  ACC-beta may be involved in the regulation of fatty acid oxidation, rather than fatty acid biosynthesis.  There is evidence for the presence of two ACC-beta isoforms. [provided by RefSeq, Jul 2008]
ACAD10	chr12	111686056	111757107	+	ENSG00000111271.14	protein_coding	-	12q24.12	acyl-CoA dehydrogenase family member 10	Ubiquitous expression in kidney (RPKM 11.6), duodenum (RPKM 7.2) and 25 other tissues
ACAD11	chr3	132558138	132660723	-	ENSG00000240303.7	protein_coding	ACAD-11	3q22.1	acyl-CoA dehydrogenase family member 11	This gene encodes an acyl-CoA dehydrogenase enzyme with a preference for carbon chain lengths between 20 and 26. Naturally occurring read-through transcription occurs between the upstream gene NPHP3 (nephronophthisis 3 (adolescent)) and this gene. [provided by RefSeq, Aug 2015]
ACAD8	chr11	134253495	134265855	+	ENSG00000151498.11	protein_coding	ACAD-8|ARC42|IBDH	11q25	acyl-CoA dehydrogenase family member 8	This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. The encoded protein is a mitochondrial enzyme that functions in catabolism of the branched-chain amino acid valine. Defects in this gene are the cause of isobutyryl-CoA dehydrogenase deficiency.[provided by RefSeq, Nov 2009]
ACAD9	chr3	128879596	128916067	+	ENSG00000177646.18	protein_coding	MC1DN20|NPD002	3q21.3	acyl-CoA dehydrogenase family member 9	This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
ACADL	chr2	210187939	210225491	-	ENSG00000115361.7	protein_coding	ACAD4|LCAD	2q34	acyl-CoA dehydrogenase long chain	The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008]
ACADM	chr1	75724347	75787575	+	ENSG00000117054.13	protein_coding	ACAD1|MCAD|MCADH	1p31.1	acyl-CoA dehydrogenase medium chain	This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ACADS	chr12	120725735	120740008	+	ENSG00000122971.8	protein_coding	ACAD3|SCAD	12q24.31	acyl-CoA dehydrogenase short chain	This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014]
ACADSB	chr10	123008979	123058311	+	ENSG00000196177.12	protein_coding	2-MEBCAD|ACAD7|SBCAD	10q26.13	acyl-CoA dehydrogenase short/branched chain	Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008]
ACADVL	chr17	7217125	7225273	+	ENSG00000072778.19	protein_coding	ACAD6|LCACD|VLCAD	17p13.1	acyl-CoA dehydrogenase very long chain	The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
ACAN	chr15	88803443	88875354	+	ENSG00000157766.15	protein_coding	AGC1|AGCAN|CSPG1|CSPGCP|MSK16|SEDK|SSOAOD	15q26.1	aggrecan	This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]
ACAP1	chr17	7336529	7351478	+	ENSG00000072818.11	protein_coding	CENTB1	17p13.1	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	Broad expression in lymph node (RPKM 20.4), spleen (RPKM 16.9) and 24 other tissues
ACAP2	chr3	195274736	195443078	-	ENSG00000114331.13	protein_coding	CENTB2|CNT-B2	3q29	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	Ubiquitous expression in thyroid (RPKM 13.3), lymph node (RPKM 12.2) and 25 other tissues
ACAP2-IT1	chr3	195280723	195282741	-	ENSG00000229325.1	sense_intronic	-	3q29	ACAP2 intronic transcript 1	-
ACAP3	chr1	1292376	1309609	-	ENSG00000131584.18	protein_coding	CENTB5	1p36.33	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	Ubiquitous expression in skin (RPKM 16.2), brain (RPKM 12.8) and 24 other tissues
ACAT1	chr11	108121516	108147776	+	ENSG00000075239.13	protein_coding	ACAT|MAT|T2|THIL	11q22.3	acetyl-CoA acetyltransferase 1	This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]
ACAT2	chr6	159760328	159779055	+	ENSG00000120437.8	protein_coding	-	6q25.3	acetyl-CoA acetyltransferase 2	Note: ACAT2 (Gene ID: 39) and SOAT2 (Gene ID: 8435) share the ACAT2 symbol/alias in common. ACAT2 is a widely used alternative name for sterol O-acyltransferase 2 (SOAT2), which can be confused with acetyl-CoA acetyltransferase 2 (ACAT2). [20 Jun 2018]
ACBD3	chr1	226144679	226186730	-	ENSG00000182827.8	protein_coding	GCP60|GOCAP1|GOLPH1|PAP7	1q42.12	acyl-CoA binding domain containing 3	The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation. [provided by RefSeq, Jul 2008]
ACBD3-AS1	chr1	226148003	226155071	+	ENSG00000234478.1	antisense	-	1q42.12	ACBD3 antisense RNA 1	-
ACBD4	chr17	45132600	45144181	+	ENSG00000181513.14	protein_coding	HMFT0700	17q21.31	acyl-CoA binding domain containing 4	This gene encodes a member of the acyl-coenzyme A binding domain containing protein family. All family members contain the conserved acyl-Coenzyme A binding domain, which binds acyl-CoA thiol esters. They are thought to play roles in acyl-CoA dependent lipid metabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
ACBD5	chr10	27195214	27242130	-	ENSG00000107897.18	protein_coding	RDLKD	10p12.1	acyl-CoA binding domain containing 5	This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
ACBD6	chr1	180269653	180502954	-	ENSG00000230124.6	protein_coding	-	1q25.2-q25.3	acyl-CoA binding domain containing 6	-
ACCS	chr11	44065925	44084222	+	ENSG00000110455.13	protein_coding	ACS|PHACS	11p11.2	1-aminocyclopropane-1-carboxylate synthase homolog (inactive)	Ubiquitous expression in spleen (RPKM 11.2), gall bladder (RPKM 7.3) and 25 other tissues
ACD	chr16	67657512	67660815	-	ENSG00000102977.13	protein_coding	PIP1|PTOP|TINT1|TPP1	16q22.1	ACD shelterin complex subunit and telomerase recruitment factor	This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]
ACE	chr17	63477061	63498380	+	ENSG00000159640.15	protein_coding	ACE1|CD143|DCP|DCP1	17q23.3	angiotensin I converting enzyme	This gene encodes an enzyme involved in blood pressure regulation and electrolyte balance. It catalyzes the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This angiotensin converting enzyme (ACE) also inactivates the vasodilator protein, bradykinin. Accordingly, the encoded enzyme increases blood pressure and is a drug target of ACE inhibitors, which are often prescribed to reduce blood pressure. This enzyme additionally plays a role in fertility through its ability to cleave and release GPI-anchored membrane proteins in spermatozoa. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme. This polymorphism, as well as mutations in this gene, have been implicated in a wide variety of diseases including cardiovascular pathophysiologies, psoriasis, renal disease, stroke, and Alzheimers disease. Regulation of the homologous ACE2 gene may be involved in progression of disease caused by several human coronaviruses, including SARS-CoV and SARS-CoV-2. Alternative splicing results in multiple transcript variants encoding both somatic (sACE) and male-specific testicular (tACE) isoforms. [provided by RefSeq, Sep 2020]
ACE3P	chr17	63507056	63519806	+	ENSG00000224353.2	transcribed_unprocessed_pseudogene	ACE3	17q23.3	angiotensin I converting enzyme 3, pseudogene	-
ACER3	chr11	76860867	77026797	+	ENSG00000078124.11	protein_coding	APHC|PHCA|PLDECO	11q13.5	alkaline ceramidase 3	Ubiquitous expression in fat (RPKM 8.3), brain (RPKM 5.5) and 24 other tissues
ACHE	chr7	100889994	100896974	-	ENSG00000087085.13	protein_coding	ACEE|ARACHE|N-ACHE|YT	7q22.1	acetylcholinesterase (Cartwright blood group)	Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood group antigen. Acetylcholinesterase exists in multiple molecular forms which possess similar catalytic properties, but differ in their oligomeric assembly and mode of cell attachment to the cell surface. It is encoded by the single ACHE gene, and the structural diversity in the gene products arises from alternative mRNA splicing, and post-translational associations of catalytic and structural subunits. The major form of acetylcholinesterase found in brain, muscle and other tissues is the hydrophilic species, which forms disulfide-linked oligomers with collagenous, or lipid-containing structural subunits. The other, alternatively spliced form, expressed primarily in the erythroid tissues, differs at the C-terminal end, and contains a cleavable hydrophobic peptide with a GPI-anchor site. It associates with the membranes through the phosphoinositide (PI) moieties added post-translationally. AChE activity may constitute a sensitive biomarker of RBC ageing in vivo, and thus, may be of aid in understanding the effects of transfusion[provided by RefSeq, Sep 2019]
ACIN1	chr14	23058564	23095614	-	ENSG00000100813.14	protein_coding	ACINUS|ACN|fSAP152	14q11.2	apoptotic chromatin condensation inducer 1	Apoptosis is defined by several morphologic nuclear changes, including chromatin condensation and nuclear fragmentation. This gene encodes a nuclear protein that induces apoptotic chromatin condensation after activation by caspase-3, without inducing DNA fragmentation. This protein has also been shown to be a component of a splicing-dependent multiprotein exon junction complex (EJC) that is deposited at splice junctions on mRNAs, as a consequence of pre-mRNA splicing. It may thus be involved in mRNA metabolism associated with splicing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
ACKR1	chr1	159203307	159206500	+	ENSG00000213088.9	protein_coding	CCBP1|CD234|DARC|DARC/ACKR1|Dfy|FY|GPD|GpFy|WBCQ1	1q23.2	atypical chemokine receptor 1 (Duffy blood group)	The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ACKR2	chr3	42804752	42887974	+	ENSG00000144648.15	protein_coding	CCBP2|CCR10|CCR9|CMKBR9|D6|hD6	3p22.1	atypical chemokine receptor 2	This gene encodes a beta chemokine receptor, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated signal transduction are critical for the recruitment of effector immune cells to the inflammation site. This gene is expressed in a range of tissues and hemopoietic cells. The expression of this receptor in lymphatic endothelial cells and overexpression in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and growth of vascular tumors. This receptor appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This gene is mapped to chromosome 3p21.3, a region that includes a cluster of chemokine receptor genes. [provided by RefSeq, Jul 2008]
ACKR3	chr2	236567787	236582358	+	ENSG00000144476.5	protein_coding	CMKOR1|CXC-R7|CXCR-7|CXCR7|GPR159|RDC-1|RDC1	2q37.3	atypical chemokine receptor 3	This gene encodes a member of the G-protein coupled receptor family. Although this protein was earlier thought to be a receptor for vasoactive intestinal peptide (VIP), it is now considered to be an orphan receptor, in that its endogenous ligand has not been identified. The protein is also a coreceptor for human immunodeficiency viruses (HIV). Translocations involving this gene and HMGA2 on chromosome 12 have been observed in lipomas. [provided by RefSeq, Jul 2008]
ACKR4	chr3	132597237	132618967	+	ENSG00000129048.6	protein_coding	CC-CKR-11|CCBP2|CCR-11|CCR10|CCR11|CCRL1|CCX CKR|CCX-CKR|CKR-11|PPR1|VSHK1	3q22.1	atypical chemokine receptor 4	The protein encoded by this gene is a member of the G protein-coupled receptor family, and is a receptor for C-C type chemokines. This receptor has been shown to bind dendritic cell- and T cell-activated chemokines including CCL19/ELC, CCL21/SLC, and CCL25/TECK. A pseudogene of this gene is found on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2013]
ACLY	chr17	41866908	41930542	-	ENSG00000131473.16	protein_coding	ACL|ATPCL|CLATP	17q21.2	ATP citrate lyase	ATP citrate lyase is the primary enzyme responsible for the synthesis of cytosolic acetyl-CoA in many tissues. The enzyme is a tetramer (relative molecular weight approximately 440,000) of apparently identical subunits. It catalyzes the formation of acetyl-CoA and oxaloacetate from citrate and CoA with a concomitant hydrolysis of ATP to ADP and phosphate. The product, acetyl-CoA, serves several important biosynthetic pathways, including lipogenesis and cholesterogenesis. In nervous tissue, ATP citrate-lyase may be involved in the biosynthesis of acetylcholine. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Dec 2014]
ACMSD	chr2	134838547	134902034	+	ENSG00000153086.13	protein_coding	-	2q21.3	aminocarboxymuconate semialdehyde decarboxylase	Biased expression in kidney (RPKM 17.3), liver (RPKM 10.7) and 1 other tissue
ACO1	chr9	32384603	32454769	+	ENSG00000122729.18	protein_coding	ACONS|HEL60|IREB1|IREBP|IREBP1|IRP1	9p21.1	aconitase 1	The protein encoded by this gene is a bifunctional, cytosolic protein that functions as an essential enzyme in the TCA cycle and interacts with mRNA to control the levels of iron inside cells. When cellular iron levels are high, this protein binds to a 4Fe-4S cluster and functions as an aconitase. Aconitases are iron-sulfur proteins that function to catalyze the conversion of citrate to isocitrate. When cellular iron levels are low, the protein binds to iron-responsive elements (IREs), which are stem-loop structures found in the 5 UTR of ferritin mRNA, and in the 3 UTR of transferrin receptor mRNA. When the protein binds to IRE, it results in repression of translation of ferritin mRNA, and inhibition of degradation of the otherwise rapidly degraded transferrin receptor mRNA. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jan 2014]
ACO2	chr22	41469125	41528989	+	ENSG00000100412.15	protein_coding	ACONM|HEL-S-284|ICRD|OCA8|OPA9	22q13.2	aconitase 2	The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008]
ACOT1	chr14	73537114	73543794	+	ENSG00000184227.7	protein_coding	ACH2|CTE-1|LACH2	14q24.3	acyl-CoA thioesterase 1	Broad expression in fat (RPKM 27.2), liver (RPKM 24.9) and 24 other tissues
ACOT11	chr1	54542257	54639192	+	ENSG00000162390.17	protein_coding	BFIT|STARD14|THEA|THEM1	1p32.3	acyl-CoA thioesterase 11	This gene encodes a member of the acyl-CoA thioesterase family which catalyse the conversion of activated fatty acids to the corresponding non-esterified fatty acid and coenzyme A. Expression of a mouse homolog in brown adipose tissue is induced by low temperatures and repressed by warm temperatures. Higher levels of expression of the mouse homolog has been found in obesity-resistant mice compared with obesity-prone mice, suggesting a role of acyl-CoA thioesterase 11 in obesity. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]
ACOT12	chr5	81330005	81394179	-	ENSG00000172497.8	protein_coding	CACH-1|Cach|STARD15|THEAL	5q14.1	acyl-CoA thioesterase 12	Enables identical protein binding activity. Predicted to be involved in acyl-CoA metabolic process and fatty acid metabolic process. Predicted to act upstream of or within acetyl-CoA metabolic process. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
ACOT13	chr6	24667035	24705065	+	ENSG00000112304.10	protein_coding	HT012|PNAS-27|THEM2	6p22.3	acyl-CoA thioesterase 13	This gene encodes a member of the thioesterase superfamily. In humans, the protein co-localizes with microtubules and is essential for sustained cell proliferation. The orthologous mouse protein forms a homotetramer and is associated with mitochondria. The mouse protein functions as a medium- and long-chain acyl-CoA thioesterase. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2009]
ACOT2	chr14	73567620	73575658	+	ENSG00000119673.14	protein_coding	CTE-IA|CTE1A|MTE1|PTE2|PTE2A|ZAP128	14q24.3	acyl-CoA thioesterase 2	This gene encodes a member of the acyl-CoA thioesterase protein family, and is one of four acyl-CoA hydrolase genes located in a cluster on chromosome 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
ACOT4	chr14	73591706	73596496	+	ENSG00000177465.4	protein_coding	PTE-Ib|PTE1B|PTE2B	14q24.3	acyl-CoA thioesterase 4	Broad expression in kidney (RPKM 4.8), liver (RPKM 2.8) and 21 other tissues
ACOT6	chr14	73610945	73619888	+	ENSG00000205669.2	protein_coding	C14orf42|c14_5530	14q24.3	acyl-CoA thioesterase 6	Low expression observed in reference dataset
ACOT7	chr1	6264269	6394391	-	ENSG00000097021.19	protein_coding	ACH1|ACT|BACH|CTE-II|LACH|LACH1|hBACH	1p36.31	acyl-CoA thioesterase 7	This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized. [provided by RefSeq, Jul 2008]
ACOT8	chr20	45841721	45857406	-	ENSG00000101473.16	protein_coding	HNAACTE|NAP1|PTE-1|PTE-2|PTE1|PTE2|hACTE-III|hTE	20q13.12	acyl-CoA thioesterase 8	The protein encoded by this gene is a peroxisomal thioesterase that appears to be involved more in the oxidation of fatty acids rather than in their formation. The encoded protein can bind to the human immunodeficiency virus-1 protein Nef, and mediate Nef-induced down-regulation of CD4 in T-cells. [provided by RefSeq, Oct 2010]
ACOX1	chr17	75941507	75979363	-	ENSG00000161533.11	protein_coding	ACOX|MITCH|PALMCOX|SCOX	17q25.1	acyl-CoA oxidase 1	The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
ACOX2	chr3	58505136	58537319	-	ENSG00000168306.12	protein_coding	BCOX|BRCACOX|BRCOX|CBAS6|THCCox	3p14.3	acyl-CoA oxidase 2	The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe cognitive disability, and death in children. [provided by RefSeq, Mar 2009]
ACOX3	chr4	8366282	8440723	-	ENSG00000087008.15	protein_coding	-	4p16.1	acyl-CoA oxidase 3, pristanoyl	Ubiquitous expression in esophagus (RPKM 3.5), skin (RPKM 3.1) and 25 other tissues
ACOXL	chr2	110732573	111118222	+	ENSG00000153093.18	protein_coding	-	2q13	acyl-CoA oxidase like	-
ACOXL-AS1	chr2	111098345	111115588	-	ENSG00000204581.2	antisense	-	2q13	ACOXL antisense RNA 1	-
ACP1	chr2	264140	278283	+	ENSG00000143727.15	protein_coding	HAAP|LMW-PTP|LMWPTP	2p25.3	acid phosphatase 1	The product of this gene belongs to the phosphotyrosine protein phosphatase family of proteins. It functions as an acid phosphatase and a protein tyrosine phosphatase by hydrolyzing protein tyrosine phosphate to protein tyrosine and orthophosphate. This enzyme also hydrolyzes orthophosphoric monoesters to alcohol and orthophosphate. This gene is genetically polymorphic, and three common alleles segregating at the corresponding locus give rise to six phenotypes. Each allele appears to encode at least two electrophoretically different isozymes, Bf and Bs, which are produced in allele-specific ratios. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2008]
ACP2	chr11	47239302	47248906	-	ENSG00000134575.9	protein_coding	LAP	11p11.2|11p12-p11	acid phosphatase 2, lysosomal	The protein encoded by this gene belongs to the histidine acid phosphatase family, which hydrolyze orthophosphoric monoesters to alcohol and phosphate. This protein is localized to the lysosomal membrane, and is chemically and genetically distinct from the red cell acid phosphatase. Mice lacking this gene showed multiple defects, including bone structure alterations, lysosomal storage defects, and an increased tendency towards seizures. An enzymatically-inactive allele of this gene in mice showed severe growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2017]
ACP3	chr3	 132317407	132368302	+	ENSG00000014257	protein-coding	5'-NT|ACP-3|ACPP|TM-PAP	3q22.1	acid phosphatase 3	-
ACP4	chr19	 50790415	50795219	+	ENSG00000142513	protein-coding	ACPT|AI1J	19q13.33	acid phosphatase 4	Acid phosphatases are enzymes capable of hydrolyzing orthophosphoric acid esters in an acid medium. This gene is up-regulated by androgens and is down-regulated by estrogens in the prostate cancer cell line. This gene exhibits a lower level of expression in testicular cancer tissues than in normal tissues. The protein encoded by this gene has structural similarity to prostatic and lysosomal acid phosphatases. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
ACP5	chr19	11574660	11579008	-	ENSG00000102575.10	protein_coding	HPAP|TRACP5a|TRACP5b|TRAP|TrATPase	19p13.2	acid phosphatase 5, tartrate resistant	This gene encodes an iron containing glycoprotein which catalyzes the conversion of orthophosphoric monoester to alcohol and orthophosphate. It is the most basic of the acid phosphatases and is the only form not inhibited by L(+)-tartrate. [provided by RefSeq, Aug 2008]
ACP6	chr1	147629652	147670496	-	ENSG00000162836.11	protein_coding	ACPL1|LPAP|PACPL1	1q21.2	acid phosphatase 6, lysophosphatidic	This gene encodes a member of the histidine acid phosphatase protein family. The encoded protein hydrolyzes lysophosphatidic acid, which is involved in G protein-coupled receptor signaling, lipid raft modulation, and in balancing lipid composition within the cell. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2016]
ACP7	chr19	39083913	39111493	+	ENSG00000183760.10	protein_coding	PAPL|PAPL1	19q13.2	acid phosphatase 7, tartrate resistant (putative)	Purple acid phosphatases (PAPs), including PAPL, are a family of binuclear metallohydrolases that have been identified in plants, animals, and fungi (Flanagan et al., 2006 [PubMed 16793224]).[supplied by OMIM, Mar 2008]
ACR	chr22	50738196	50745334	+	ENSG00000100312.10	protein_coding	-	22q13.33	acrosin	Restricted expression toward testis (RPKM 44.8)
ACRV1	chr11	125671522	125681123	-	ENSG00000134940.13	protein_coding	D11S4365|SP-10|SPACA2	11q24.2	acrosomal vesicle protein 1	This gene encodes a testis-specific, differentiation antigen, acrosomal vesicle protein 1, that arises within the acrosomal vesicle during spermatogenesis, and is associated with the acrosomal membranes and matrix of mature sperm. The acrosomal vesicle protein 1 may be involved in sperm-zona binding or penetration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]
ACSBG1	chr15	78167468	78245688	-	ENSG00000103740.9	protein_coding	BG|BG1|BGM|GR-LACS|LPD	15q25.1	acyl-CoA synthetase bubblegum family member 1	The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis. [provided by RefSeq, Jul 2008]
ACSBG2	chr19	6135247	6193094	+	ENSG00000130377.13	protein_coding	BGR|BRGL|PRTD-NY3|PRTDNY3	19p13.3	acyl-CoA synthetase bubblegum family member 2	Restricted expression toward testis (RPKM 79.4)
ACSF2	chr17	50426158	50474845	+	ENSG00000167107.12	protein_coding	ACSMW|AVYV493	17q21.33	acyl-CoA synthetase family member 2	Broad expression in kidney (RPKM 73.1), thyroid (RPKM 24.6) and 18 other tissues
ACSF3	chr16	89088375	89155846	+	ENSG00000176715.15	protein_coding	-	16q24.3	acyl-CoA synthetase family member 3	Ubiquitous expression in duodenum (RPKM 1.5), lymph node (RPKM 1.5) and 25 other tissues
ACSL1	chr4	184755595	184826818	-	ENSG00000151726.13	protein_coding	ACS1|FACL1|FACL2|LACS|LACS1|LACS2	4q35.1	acyl-CoA synthetase long chain family member 1	The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
ACSL3	chr2	222860934	222944639	+	ENSG00000123983.13	protein_coding	ACS3|FACL3|LACS 3|LACS3|PRO2194	2q36.1	acyl-CoA synthetase long chain family member 3	The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
ACSL5	chr10	112374018	112428380	+	ENSG00000197142.10	protein_coding	ACS2|ACS5|FACL5	10q25.2	acyl-CoA synthetase long chain family member 5	The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ACSL6	chr5	131949973	132012243	-	ENSG00000164398.12	protein_coding	ACS2|FACL6|LACS 6|LACS2|LACS5	5q31.1	acyl-CoA synthetase long chain family member 6	The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain. Translocations with the ETV6 gene are causes of myelodysplastic syndrome with basophilia, acute myelogenous leukemia with eosinophilia, and acute eosinophilic leukemia. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2011]
ACSM1	chr16	20623237	20698890	-	ENSG00000166743.9	protein_coding	BUCS1|MACS1	16p12.3	acyl-CoA synthetase medium chain family member 1	Broad expression in prostate (RPKM 1.3), ovary (RPKM 1.3) and 18 other tissues
ACSM3	chr16	20610243	20797581	+	ENSG00000005187.11	protein_coding	SA|SAH	16p12.3	acyl-CoA synthetase medium chain family member 3	Broad expression in liver (RPKM 29.1), kidney (RPKM 21.9) and 17 other tissues
ACSM4	chr12	7304284	7328724	+	ENSG00000215009.5	protein_coding	-	12p13.31	acyl-CoA synthetase medium chain family member 4	Broad expression in spleen (RPKM 1.5), testis (RPKM 0.7) and 14 other tissues
ACSM5	chr16	20409534	20441336	+	ENSG00000183549.10	protein_coding	-	16p12.3	acyl-CoA synthetase medium chain family member 5	-
ACSM5P1	chr16	20586550	20607107	-	ENSG00000260762.1	unprocessed_pseudogene	-	16p12.3	acyl-CoA synthetase medium chain family member 5 pseudogene 1	-
ACSM6	chr10	95194200	95228928	+	ENSG00000173124.14	protein_coding	C10orf129|bA310E22.3	10q23.33	acyl-CoA synthetase medium chain family member 6	Low expression observed in reference dataset
ACSS1	chr20	25006230	25058980	-	ENSG00000154930.14	protein_coding	ACAS2L|ACECS1|AceCS2L	20p11.21	acyl-CoA synthetase short chain family member 1	This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
ACSS2	chr20	34872146	34927962	+	ENSG00000131069.19	protein_coding	ACAS2|ACECS|ACS|ACSA|AceCS1|dJ1161H23.1	20q11.22	acyl-CoA synthetase short chain family member 2	This gene encodes a cytosolic enzyme that catalyzes the activation of acetate for use in lipid synthesis and energy generation. The protein acts as a monomer and produces acetyl-CoA from acetate in a reaction that requires ATP. Expression of this gene is regulated by sterol regulatory element-binding proteins, transcription factors that activate genes required for the synthesis of cholesterol and unsaturated fatty acids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
ACTA1	chr1	229431245	229434098	-	ENSG00000143632.14	protein_coding	ACTA|ASMA|CFTD|CFTD1|CFTDM|MPFD|NEM1|NEM2|NEM3|SHPM	1q42.13	actin alpha 1, skeletal muscle	The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]
ACTA2	chr10	88935074	88991339	-	ENSG00000107796.13	protein_coding	ACTSA	10q23.31	actin alpha 2, smooth muscle	This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a smooth muscle actin that is involved in vascular contractility and blood pressure homeostasis. Mutations in this gene cause a variety of vascular diseases, such as thoracic aortic disease, coronary artery disease, stroke, and Moyamoya disease, as well as multisystemic smooth muscle dysfunction syndrome. [provided by RefSeq, Sep 2017]
ACTB	chr7	5527151	5563784	-	ENSG00000075624.13	protein_coding	BRWS1|PS1TP5BP1	7p22.1	actin beta	This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]
ACTBL2	chr5	57480016	57482809	-	ENSG00000169067.3	protein_coding	ACT	5q11.2	actin beta like 2	-
ACTG1	chr17	81509971	81523847	-	ENSG00000184009.9	protein_coding	ACT|ACTG|DFNA20|DFNA26|HEL-176	17q25.3	actin gamma 1	Actins are highly conserved proteins that are involved in various types of cell motility and in maintenance of the cytoskeleton. Three main groups of actin isoforms have been identified in vertebrate animals: alpha, beta, and gamma. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. Actin gamma 1, encoded by this gene, is a cytoplasmic actin found in all cell types. Mutations in this gene are associated with DFNA20/26, a subtype of autosomal dominant non-syndromic sensorineural progressive hearing loss and also with Baraitser-Winter syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
ACTG1P1	chr3	139493809	139494937	+	ENSG00000178631.7	processed_pseudogene	ACT1GP1|ACTGP1|HY-psi-gamma-AC6	3q23	actin gamma 1 pseudogene 1	-
ACTG1P12	chr3	12070195	12071360	+	ENSG00000226642.1	processed_pseudogene	-	3p25.2	actin gamma 1 pseudogene 12	-
ACTG1P15	chr15	34373541	34374603	-	ENSG00000259904.1	processed_pseudogene	-	15q14	actin gamma 1 pseudogene 15	-
ACTG1P17	chr15	82725873	82738904	-	ENSG00000259315.1	transcribed_processed_pseudogene	-	15q25.2	actin gamma 1 pseudogene 17	-
ACTG1P22	chr2	57755428	57766052	+	ENSG00000271615.1	transcribed_processed_pseudogene	-	2p16.1	actin gamma 1 pseudogene 22	-
ACTG1P9	chr6	46204729	46207386	+	ENSG00000229349.2	processed_pseudogene	ACTGP9	6p12.3	actin gamma 1 pseudogene 9	-
ACTG2	chr2	73892314	73919865	+	ENSG00000163017.13	protein_coding	ACT|ACTA3|ACTE|ACTL3|ACTSG|MMIHS5|VSCM|VSCM1	2p13.1	actin gamma 2, smooth muscle	Actins are highly conserved proteins that are involved in various types of cell motility and in the maintenance of the cytoskeleton. Three types of actins, alpha, beta and gamma, have been identified in vertebrates. Alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins co-exist in most cell types as components of the cytoskeleton and as mediators of internal cell motility. This gene encodes actin gamma 2; a smooth muscle actin found in enteric tissues. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Based on similarity to peptide cleavage of related actins, the mature protein of this gene is formed by removal of two N-terminal peptides.[provided by RefSeq, Dec 2010]
ACTL10	chr20	33666498	33668525	+	ENSG00000182584.4	protein_coding	C20orf134|dJ63M2.2	20q11.22	actin like 10	-
ACTL11P	chr3	 49873345	49877306	-	ENSG00000234667	pseudogene	ACTBP13	3p21.31	actin like 11, pseudogene	-
ACTL6B	chr7	100643097	100656461	-	ENSG00000077080.9	protein_coding	ACTL6|BAF53B|DEE76|EIEE76|IDDSSAD|SMARCN2|arpNalpha	7q22.1	actin like 6B	The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
ACTL7A	chr9	108862266	108863759	+	ENSG00000187003.6	protein_coding	-	9q31.3	actin like 7A	-
ACTL7B	chr9	108854589	108856967	-	ENSG00000148156.7	protein_coding	Tact1	9q31.3	actin like 7B	The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene (ACTL7B), and related gene, ACTL7A, are intronless, and are located approximately 4 kb apart in a head-to-head orientation within the familial dysautonomia candidate region on 9q31. Based on mutational analysis of the ACTL7B gene in patients with this disorder, it was concluded that it is unlikely to be involved in the pathogenesis of dysautonomia. Unlike ACTL7A, the ACTL7B gene is expressed predominantly in the testis, however, its exact function is not known. [provided by RefSeq, Jul 2008]
ACTN1	chr14	68874143	68979440	-	ENSG00000072110.13	protein_coding	BDPLT15	14q24.1|14q22-q24	actinin alpha 1	Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a nonmuscle, cytoskeletal, alpha actinin isoform and maps to the same site as the structurally similar erythroid beta spectrin gene. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ACTN1-DT	chr14	 68979682	68987463	+	ENSG00000259062	ncRNA	ACTN1-AS1|C14orf84	14q24.1	ACTN1 divergent transcript	-
ACTN2	chr1	236686454	236764631	+	ENSG00000077522.12	protein_coding	CMD1AA|CMH23|MPD6|MYOCOZ	1q43	actinin alpha 2	Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]
ACTN3	chr11	66546395	66563329	+	ENSG00000248746.5	protein_coding	ACTN3D	11q13.2	actinin alpha 3	This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014]
ACTN4	chr19	38647649	38731583	+	ENSG00000130402.11	protein_coding	ACTININ-4|FSGS|FSGS1	19q13.2	actinin alpha 4	 Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins.  Alpha actinin is an actin-binding protein with multiple roles in different cell types.  In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane.  In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments.  This gene encodes a nonmuscle, alpha actinin isoform which is concentrated in the cytoplasm, and thought to be involved in metastatic processes.  Mutations in this gene have been associated with focal and segmental glomerulosclerosis. [provided by RefSeq, Jul 2008]
ACTN4P2	chr1	37776670	37779418	+	ENSG00000214141.4	processed_pseudogene	-	1p34.3	actinin alpha 4 pseudogene 2	-
ACTR10	chr14	58200080	58235636	+	ENSG00000131966.13	protein_coding	ACTR11|Arp10|Arp11|HARP11	14q23.1	actin related protein 10	Ubiquitous expression in brain (RPKM 22.5), adrenal (RPKM 21.9) and 25 other tissues
ACTR1A	chr10	102461881	102502711	-	ENSG00000138107.12	protein_coding	ARP1|Arp1A|CTRN1	10q24.32	actin related protein 1A	This gene encodes a 42.6 kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 8-13 copies per dynactin molecule, and is the most abundant molecule in the dynactin complex. It is an actin-related protein, and is approximately 60% identical at the amino acid level to conventional actin. [provided by RefSeq, Jul 2008]
ACTR1B	chr2	97655963	97664107	-	ENSG00000115073.7	protein_coding	ARP1B|CTRN2|PC3	2q11.2	actin related protein 1B	This gene encodes a 42.3 kD subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein and is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like ACTR1A, is an actin-related protein. These two proteins, which are of equal length and share 90% amino acid identity, are present in a constant ratio of approximately 1:15 in the dynactin complex. [provided by RefSeq, Aug 2008]
ACTR2	chr2	65227753	65271253	+	ENSG00000138071.13	protein_coding	ARP2	2p14	actin related protein 2	The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ACTR3	chr2	113889960	113962596	+	ENSG00000115091.11	protein_coding	ARP3	2q14.1	actin related protein 3	The specific function of this gene has not yet been determined; however, the protein it encodes is known to be a major constituent of the ARP2/3 complex. This complex is located at the cell surface and is essential to cell shape and motility through lamellipodial actin assembly and protrusion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
ACTR3B	chr7	152759749	152855378	+	ENSG00000133627.17	protein_coding	ARP11|ARP3BETA	7q36.1-q36.2	actin related protein 3B	This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
ACTR3C	chr7	150243916	150323725	-	ENSG00000106526.10	protein_coding	ARP11	7q36.1	actin related protein 3C	Ubiquitous expression in brain (RPKM 1.0), adrenal (RPKM 0.6) and 25 other tissues
ACTR5	chr20	38748442	38772520	+	ENSG00000101442.9	protein_coding	Arp5|INO80M	20q11.23	actin related protein 5	Ubiquitous expression in testis (RPKM 7.1), lymph node (RPKM 4.1) and 25 other tissues
ACTR8	chr3	53867066	53882202	-	ENSG00000113812.13	protein_coding	ARP8|INO80N|hArp8	3p21.1	actin related protein 8	Ubiquitous expression in testis (RPKM 6.6), kidney (RPKM 6.1) and 25 other tissues
ACTRT1	chrX	128050962	128052398	-	ENSG00000123165.8	protein_coding	AIP1|ARIP1|ARPT1|HSD27	Xq25	actin related protein T1	This gene encodes a protein related to the cytoskeletal protein beta-actin. This protein is a major component of the calyx in the perinuclear theca of mammalian sperm heads, and it therefore likely functions in spermatid formation. This gene is intronless and is similar to a related gene located on chromosome 1. A related pseudogene has also been identified approximately 75 kb downstream of this gene on chromosome X. [provided by RefSeq, May 2010]
ACTRT2	chr1	3021483	3022903	+	ENSG00000169717.6	protein_coding	ARPM2|ARPT2|Arp-T2|HARPM2	1p36.32	actin related protein T2	The protein encoded by this intronless gene belongs to the actin family. Studies have shown that this protein may be involved in cytoskeletal organization similar to other cytoplasmic actin-related protein (ARP) subfamily members. Antibody raised against the human protein has been used to detect the protein by immunoblotting and immunofluorescence microscopy, demonstrating its specific synthesis in the testis, late in spermatid differentiation, and its localization in the calyx. [provided by RefSeq, Jul 2008]
ACTRT3	chr3	169766921	169769895	-	ENSG00000184378.2	protein_coding	ARP-T3|ARPM1	3q26.2	actin related protein T3	Biased expression in testis (RPKM 21.9), kidney (RPKM 1.3) and 1 other tissue
ACVR1B	chr12	51951667	51997078	+	ENSG00000135503.12	protein_coding	ACTRIB|ACVRLK4|ALK4|SKR2	12q13.13	activin A receptor type 1B	This gene encodes an activin A type IB receptor. Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I and two type II receptors. This protein is a type I receptor which is essential for signaling. Mutations in this gene are associated with pituitary tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]
ACVR1C	chr2	157526767	157629005	-	ENSG00000123612.15	protein_coding	ACVRLK7|ALK7	2q24.1	activin A receptor type 1C	ACVR1C is a type I receptor for the TGFB (see MIM 190180) family of signaling molecules. Upon ligand binding, type I receptors phosphorylate cytoplasmic SMAD transcription factors, which then translocate to the nucleus and interact directly with DNA or in complex with other transcription factors (Bondestam et al., 2001 [PubMed 12063393]).[supplied by OMIM, Mar 2008]
ACVR2A	chr2	147844517	147930826	+	ENSG00000121989.14	protein_coding	ACTRII|ACVR2	2q22.3-q23.1	activin A receptor type 2A	This gene encodes a receptor that mediates the functions of activins, which are members of the transforming growth factor-beta (TGF-beta) superfamily involved in diverse biological processes. The encoded protein is a transmembrane serine-threonine kinase receptor which mediates signaling by forming heterodimeric complexes with various combinations of type I and type II receptors and ligands in a cell-specific manner. The encoded type II receptor is primarily involved in ligand-binding and includes an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic serine-threonine kinase domain. This gene may be associated with susceptibility to preeclampsia, a pregnancy-related disease which can result in maternal and fetal morbidity and mortality. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jun 2013]
ACVR2B	chr3	38453851	38493142	+	ENSG00000114739.13	protein_coding	ACTRIIB|ActR-IIB|HTX4	3p22.2	activin A receptor type 2B	Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I (I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. Type II receptors are considered to be constitutively active kinases. This gene encodes activin A type IIB receptor, which displays a 3- to 4-fold higher affinity for the ligand than activin A type II receptor. [provided by RefSeq, Jul 2008]
ACVR2B-AS1	chr3	38451027	38454820	-	ENSG00000229589.1	antisense	-	3p22.2	ACVR2B antisense RNA 1	-
ACVRL1	chr12	51906908	51923361	+	ENSG00000139567.12	protein_coding	ACVRLK1|ALK-1|ALK1|HHT|HHT2|ORW2|SKR3|TSR-I	12q13.13	activin A receptor like type 1	This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]
ACY1	chr3	51983278	51989202	+	ENSG00000243989.8	protein_coding	ACY-1|ACY1D|HEL-S-5	3p21.2	aminoacylase 1	This gene encodes a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in GeneID:100526760. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Nov 2010]
ACY3	chr11	67642555	67650659	-	ENSG00000132744.7	protein_coding	ACY-3|HCBP1	11q13.2	aminoacylase 3	Biased expression in kidney (RPKM 28.0), duodenum (RPKM 26.6) and 8 other tissues
ACYP1	chr14	75053221	75069483	-	ENSG00000119640.8	protein_coding	ACYPE	14q24.3	acylphosphatase 1	This gene is a member of the acylphosphatase family. The encoded protein is a small cytosolic enzyme that catalyzes the hydrolysis of the carboxyl-phosphate bond of acylphosphates. Two isoenzymes have been isolated and described based on their tissue localization: erythrocyte (common) type acylphosphatase encoded by this gene, and muscle type acylphosphatase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
ACYP2	chr2	53970838	54305300	+	ENSG00000170634.12	protein_coding	ACYM|ACYP	2p16.2	acylphosphatase 2	Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
AD000684.2	chr19	35262846	35264804	+	ENSG00000268947.1	sense_intronic	-	-	-	-
ADA	chr20	44619522	44652233	-	ENSG00000196839.12	protein_coding	ADA1	20q13.12	adenosine deaminase	This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine in the purine catabolic pathway. Various mutations have been described for this gene and have been linked to human diseases related to impaired immune function such as severe combined immunodeficiency disease (SCID) which is the result of a deficiency in the ADA enzyme. In ADA-deficient individuals there is a marked depletion of T, B, and NK lymphocytes, and consequently, a lack of both humoral and cellular immunity. Conversely, elevated levels of this enzyme are associated with congenital hemolytic anemia. [provided by RefSeq, Sep 2019]
ADA2	chr22	 17178790	17221848	-	ENSG00000093072	protein-coding	ADGF|CECR1|IDGFL|PAN|SNEDS|VAIHS	22q11.1	adenosine deaminase 2	This gene encodes a member of a subfamily of the adenosine deaminase protein family. The encoded protein is one of two adenosine deaminases found in humans, which regulate levels of the signaling molecule, adenosine. The encoded protein is secreted from monocytes undergoing differentiation and may regulate cell proliferation and differentiation. This gene may be responsible for some of the phenotypic features associated with cat eye syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
ADAD2	chr16	84191138	84197168	+	ENSG00000140955.10	protein_coding	TENRL	16q24.1	adenosine deaminase domain containing 2	Restricted expression toward testis (RPKM 19.3)
ADAL	chr15	43330674	43354555	+	ENSG00000168803.14	protein_coding	HsMAPDA	15q15.3	adenosine deaminase like	Broad expression in heart (RPKM 4.3), testis (RPKM 3.5) and 24 other tissues
ADAM10	chr15	58588807	58749978	-	ENSG00000137845.14	protein_coding	AD10|AD18|CD156c|CDw156|HsT18717|MADM|RAK|kuz	15q21.3	ADAM metallopeptidase domain 10	Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. Alternate splicing results in multiple transcript variants encoding different proteins that may undergo similar processing. [provided by RefSeq, Feb 2016]
ADAM11	chr17	44759031	44781846	+	ENSG00000073670.13	protein_coding	MDC	17q21.31	ADAM metallopeptidase domain 11	This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
ADAM12	chr10	126012381	126388455	-	ENSG00000148848.14	protein_coding	ADAM12-OT1|CAR10|MCMP|MCMPMltna|MLTN|MLTNA	10q26.2	ADAM metallopeptidase domain 12	This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014]
ADAM15	chr1	155050566	155062775	+	ENSG00000143537.13	protein_coding	MDC15	1q21.3	ADAM metallopeptidase domain 15	The protein encoded by this gene is a member of the ADAM (a disintegrin and metalloproteinase) protein family. ADAM family members are type I transmembrane glycoproteins known to be involved in cell adhesion and proteolytic ectodomain processing of cytokines and adhesion molecules. This protein contains multiple functional domains including a zinc-binding metalloprotease domain, a disintegrin-like domain, as well as a EGF-like domain. Through its disintegrin-like domain, this protein specifically interacts with the integrin beta chain, beta 3. It also interacts with Src family protein-tyrosine kinases in a phosphorylation-dependent manner, suggesting that this protein may function in cell-cell adhesion as well as in cellular signaling. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
ADAM17	chr2	9488486	9555792	-	ENSG00000151694.12	protein_coding	ADAM18|CD156B|CSVP|NISBD|NISBD1|TACE	2p25.1	ADAM metallopeptidase domain 17	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. The encoded protease functions in the ectodomain shedding of tumor necrosis factor-alpha, in which soluble tumor necrosis factor-alpha is released from the membrane-bound precursor. This protease also functions in the processing of numerous other substrates, including cell adhesion proteins, cytokine and growth factor receptors and epidermal growth factor (EGF) receptor ligands, and plays a prominent role in the activation of the Notch signaling pathway. Elevated expression of this gene has been observed in specific cell types derived from psoriasis, rheumatoid arthritis, multiple sclerosis and Crohns disease patients, suggesting that the encoded protein may play a role in autoimmune disease. Additionally, this protease may play a role in viral infection through its cleavage of ACE2, the cellular receptor for SARS-CoV and SARS-CoV-2. [provided by RefSeq, Aug 2020]
ADAM19	chr5	157395534	157575775	-	ENSG00000135074.15	protein_coding	FKSG34|MADDAM|MLTNB	5q33.3	ADAM metallopeptidase domain 19	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This member is a type I transmembrane protein and serves as a marker for dendritic cell differentiation. It has been demonstrated to be an active metalloproteinase, which may be involved in normal physiological processes such as cell migration, cell adhesion, cell-cell and cell-matrix interactions, and signal transduction. It is proposed to play a role in pathological processes, such as cancer, inflammatory diseases, renal diseases, and Alzheimers disease. [provided by RefSeq, May 2013]
ADAM1A	chr12	111899263	111901391	+	ENSG00000229186.4	unitary_pseudogene	ADAM1|ADAM1P|FTNAP|Ftna|PH-30a	12q24.12-q24.13	ADAM metallopeptidase domain 1A (pseudogene)	Predicted to act upstream of or within binding activity of sperm to zona pellucida. Predicted to be located in membrane raft. [provided by Alliance of Genome Resources, Apr 2022]
ADAM1B	chr12	111927018	111929017	+	ENSG00000226469.1	unitary_pseudogene	-	12q24.13	ADAM metallopeptidase domain 1B (pseudogene)	-
ADAM20	chr14	70522358	70535015	-	ENSG00000134007.3	protein_coding	-	14q24.2	ADAM metallopeptidase domain 20	Low expression observed in reference dataset
ADAM20P1	chr14	70468881	70483756	-	ENSG00000259158.3	transcribed_unprocessed_pseudogene	C14orf55	14q24.2	ADAM metallopeptidase domain 20 pseudogene 1	Biased expression in testis (RPKM 1.5), skin (RPKM 0.2) and 9 other tissues
ADAM21	chr14	70452157	70459899	+	ENSG00000139985.6	protein_coding	ADAM 21|ADAM31	14q24.2	ADAM metallopeptidase domain 21	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The expression of this gene expression is testis-specific. [provided by RefSeq, May 2011]
ADAM21P1	chr14	70245491	70247801	-	ENSG00000235812.4	transcribed_processed_pseudogene	ADAM21P	14q24.2	ADAM metallopeptidase domain 21 pseudogene 1	-
ADAM22	chr7	87934143	88202889	+	ENSG00000008277.14	protein_coding	ADAM 22|DEE61|EIEE61|MDC2	7q21.12	ADAM metallopeptidase domain 22	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Unlike other members of the ADAM protein family, the protein encoded by this gene lacks metalloprotease activity since it has no zinc-binding motif. This gene is highly expressed in the brain and may function as an integrin ligand in the brain. In mice, it has been shown to be essential for correct myelination in the peripheral nervous system. Alternative splicing results in several transcript variants.[provided by RefSeq, Dec 2010]
ADAM23	chr2	206443539	206621130	+	ENSG00000114948.12	protein_coding	MDC-3|MDC3	2q33.3	ADAM metallopeptidase domain 23	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. It is reported that inactivation of this gene is associated with tumorigenesis in human cancers. [provided by RefSeq, May 2013]
ADAM28	chr8	24294040	24359018	+	ENSG00000042980.12	protein_coding	ADAM 28|MDC-L|MDCL|eMDC II|eMDCII	8p21.2	ADAM metallopeptidase domain 28	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is a lymphocyte-expressed ADAM protein. This gene is present in a gene cluster with other members of the ADAM family on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
ADAM29	chr4	174829668	174978180	+	ENSG00000168594.15	protein_coding	CT73|svph1	4q34.1	ADAM metallopeptidase domain 29	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene is highly expressed in testis and may be involved in human spermatogenesis. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
ADAM30	chr1	119893533	119896495	-	ENSG00000134249.6	protein_coding	svph4	1p12	ADAM metallopeptidase domain 30	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats. [provided by RefSeq, Jul 2008]
ADAM32	chr8	39106990	39284911	+	ENSG00000197140.14	protein_coding	-	8p11.22	ADAM metallopeptidase domain 32	Restricted expression toward testis (RPKM 20.2)
ADAM33	chr20	3667965	3682246	-	ENSG00000149451.17	protein_coding	C20orf153|DJ964F7.1	20p13	ADAM metallopeptidase domain 33	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This protein is a type I transmembrane protein implicated in asthma and bronchial hyperresponsiveness. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]
ADAM7	chr8	24440930	24526970	+	ENSG00000069206.15	protein_coding	ADAM 7|ADAM-7|EAPI|GP-83|GP83	8p21.2	ADAM metallopeptidase domain 7	This gene encodes a member of the ADAMs family of zinc proteases. These transmembrane proteins play roles in multiple processes including cell signaling, adhesion and migration. The encoded protein lacks protease activity and may play roles in protein-protein interactions and cell adhesion processes including sperm-egg fusion. Mutations in this gene may be involved in the progression of melanoma. [provided by RefSeq, Oct 2011]
ADAM8	chr10	133262403	133276868	-	ENSG00000151651.15	protein_coding	CD156|CD156a|MS2	10q26.3	ADAM metallopeptidase domain 8	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene may be involved in cell adhesion during neurodegeneration, and it is thought to be a target for allergic respiratory diseases, including asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2009]
ADAM9	chr8	38996869	39105144	+	ENSG00000168615.11	protein_coding	CORD9|MCMP|MDC9|Mltng	8p11.22	ADAM metallopeptidase domain 9	This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The protein encoded by this gene interacts with SH3 domain-containing proteins, binds mitotic arrest deficient 2 beta protein, and is also involved in TPA-induced ectodomain shedding of membrane-anchored heparin-binding EGF-like growth factor. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2010]
ADAMTS1	chr21	26835747	26845409	-	ENSG00000154734.14	protein_coding	C3-C5|METH1	21q21.3	ADAM metallopeptidase with thrombospondin type 1 motif 1	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function. [provided by RefSeq, Jul 2008]
ADAMTS10	chr19	8580242	8610735	-	ENSG00000142303.13	protein_coding	ADAM-TS10|ADAMTS-10|WMS|WMS1	19p13.2	ADAM metallopeptidase with thrombospondin type 1 motif 10	This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease domain of the reprolysin type attached to an ancillary domain with a highly conserved structure that includes at least one thrombospondin type 1 repeat. They have been demonstrated to have important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis and cell migration. The product of this gene plays a major role in growth and in skin, lens, and heart development. It is also a candidate gene for autosomal recessive Weill-Marchesani syndrome. [provided by RefSeq, Jul 2008]
ADAMTS12	chr5	33523535	33892192	-	ENSG00000151388.10	protein_coding	PRO4389	5p13.3-p13.2	ADAM metallopeptidase with thrombospondin type 1 motif 12	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]
ADAMTS13	chr9	133414358	133459402	+	ENSG00000160323.18	protein_coding	ADAM-TS13|ADAMTS-13|C9orf8|VWFCP|vWF-CP	9q34.2	ADAM metallopeptidase with thrombospondin type 1 motif 13	This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
ADAMTS14	chr10	70672803	70762441	+	ENSG00000138316.10	protein_coding	-	10q22.1	ADAM metallopeptidase with thrombospondin type 1 motif 14	Biased expression in gall bladder (RPKM 3.7), placenta (RPKM 3.6) and 13 other tissues
ADAMTS15	chr11	130448974	130476641	+	ENSG00000166106.3	protein_coding	-	11q24.3	ADAM metallopeptidase with thrombospondin type 1 motif 15	Biased expression in fat (RPKM 10.9), placenta (RPKM 8.5) and 13 other tissues
ADAMTS17	chr15	99971589	100342005	-	ENSG00000140470.13	protein_coding	WMS4	15q26.3	ADAM metallopeptidase with thrombospondin type 1 motif 17	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]
ADAMTS18	chr16	77247813	77435114	-	ENSG00000140873.15	protein_coding	ADAMTS21|KNO2|MMCAT	16q23.1	ADAM metallopeptidase with thrombospondin type 1 motif 18	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]
ADAMTS19	chr5	129460265	129738683	+	ENSG00000145808.9	protein_coding	-	5q23.3	ADAM metallopeptidase with thrombospondin type 1 motif 19	Biased expression in endometrium (RPKM 3.1), placenta (RPKM 1.6) and 2 other tissues
ADAMTS2	chr5	179110851	179345430	-	ENSG00000087116.14	protein_coding	ADAM-TS2|ADAMTS-2|ADAMTS-3|EDSDERMS|NPI|PC I-NP|PCI-NP|PCINP|PCPNI|PNPI	5q35.3	ADAM metallopeptidase with thrombospondin type 1 motif 2	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
ADAMTS3	chr4	72280969	72569386	-	ENSG00000156140.9	protein_coding	ADAMTS-4|HKLLS3	4q13.3	ADAM metallopeptidase with thrombospondin type 1 motif 3	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease, a member of the procollagen aminopropeptidase subfamily of proteins, may play a role in the processing of type II fibrillar collagen in articular cartilage. [provided by RefSeq, Feb 2016]
ADAMTS4	chr1	161184308	161199056	-	ENSG00000158859.9	protein_coding	ADAMTS-2|ADAMTS-4|ADMP-1	1q23.3	ADAM metallopeptidase with thrombospondin type 1 motif 4	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The enzyme encoded by this gene lacks a C-terminal TS motif. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease is responsible for the degradation of aggrecan, a major proteoglycan of cartilage, and brevican, a brain-specific extracellular matrix protein. The expression of this gene is upregulated in arthritic disease and this may contribute to disease progression through the degradation of aggrecan. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
ADAMTS6	chr5	65148736	65481920	-	ENSG00000049192.14	protein_coding	ADAM-TS 6|ADAM-TS6|ADAMTS-6	5q12.3	ADAM metallopeptidase with thrombospondin type 1 motif 6	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha. [provided by RefSeq, Mar 2016]
ADAMTS7	chr15	78759203	78811431	-	ENSG00000136378.14	protein_coding	ADAM-TS 7|ADAM-TS7|ADAMTS-7	15q25.1	ADAM metallopeptidase with thrombospondin type 1 motif 7	The protein encoded by this gene is a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family. Members of this family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and may regulate vascular smooth muscle cell (VSMC) migration. Mutations in this gene may be associated with susceptibility to coronary artery disease. [provided by RefSeq, Feb 2016]
ADAMTS7P1	chr15	82298553	82334609	+	ENSG00000274376.4	transcribed_unprocessed_pseudogene	ADAMTS7P2	15q25.2	ADAMTS7 pseudogene 1	Low expression observed in reference dataset
ADAMTS7P3	chr15	77976042	77993057	+	ENSG00000261143.1	transcribed_unprocessed_pseudogene	-	15q24.3	ADAMTS7 pseudogene 3	-
ADAMTS7P4	chr15	85255369	85330334	-	ENSG00000218052.5	transcribed_unprocessed_pseudogene	-	15q25.3	ADAMTS7 pseudogene 4	-
ADAMTS8	chr11	130404925	130428993	-	ENSG00000134917.9	protein_coding	ADAM-TS8|METH2	11q24.3	ADAM metallopeptidase with thrombospondin type 1 motif 8	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs, and disrupts angiogenesis in vivo. A number of disorders have been mapped in the vicinity of this gene, most notably lung neoplasms. Reduced expression of this gene has been observed in multiple human cancers and this gene has been proposed as a potential tumor suppressor. [provided by RefSeq, Feb 2016]
ADAMTS9	chr3	64515654	64688000	-	ENSG00000163638.13	protein_coding	-	3p14.1	ADAM metallopeptidase with thrombospondin type 1 motif 9	Broad expression in placenta (RPKM 16.1), endometrium (RPKM 10.3) and 18 other tissues
ADAMTSL1	chr9	17906563	18910950	+	ENSG00000178031.16	protein_coding	ADAMTSL-1|ADAMTSR1|C9orf94|PUNCTIN	9p22.2-p22.1	ADAMTS like 1	This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
ADAMTSL2	chr9	133532164	133575519	+	ENSG00000197859.9	protein_coding	ADAMTSL-2|GPHYSD1	9q34.2	ADAMTS like 2	This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009]
ADAMTSL3	chr15	83654086	84039842	+	ENSG00000156218.12	protein_coding	ADAMTSL-3	15q25.2	ADAMTS like 3	Broad expression in lung (RPKM 4.5), placenta (RPKM 4.0) and 24 other tissues
ADAMTSL4	chr1	150549369	150560937	+	ENSG00000143382.14	protein_coding	ADAMTSL-4|ECTOL2|TSRC1	1q21.2	ADAMTS like 4	This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014]
ADAMTSL4-AS1	chr1	150560202	150574552	-	ENSG00000203804.4	processed_transcript	C1orf138	1q21.2	ADAMTSL4 antisense RNA 1	Biased expression in placenta (RPKM 48.0), lung (RPKM 13.9) and 12 other tissues
ADAMTSL5	chr19	1505018	1513604	-	ENSG00000185761.10	protein_coding	THSD6	19p13.3	ADAMTS like 5	Broad expression in endometrium (RPKM 3.3), heart (RPKM 2.8) and 21 other tissues
ADAP1	chr7	897901	955407	-	ENSG00000105963.13	protein_coding	CENTA1|GCS1L|p42IP4	7p22.3	ArfGAP with dual PH domains 1	Broad expression in brain (RPKM 18.4), colon (RPKM 17.8) and 18 other tissues
ADAP2	chr17	30906344	30959322	+	ENSG00000184060.10	protein_coding	CENTA2|HSA272195|cent-b	17q11.2	ArfGAP with dual PH domains 2	The protein encoded by this gene binds beta-tubulin and increases the stability of microtubules. The encoded protein can also translocate to the cell membrane and bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). In addition, this protein is a GTPase-activating protein for ADP ribosylation factor 6 and may be able to block the entry of some RNA viruses. [provided by RefSeq, Oct 2016]
ADAR	chr1	154582062	154627999	-	ENSG00000160710.15	protein_coding	ADAR1|AGS6|DRADA|DSH|DSRAD|G1P1|IFI-4|IFI4|K88DSRBP|P136	1q21.3	adenosine deaminase RNA specific	This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
ADARB1	chr21	45073853	45226560	+	ENSG00000197381.15	protein_coding	ADAR2|DRABA2|DRADA2|NEDHYMS|RED1	21q22.3	adenosine deaminase RNA specific B1	This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. [provided by RefSeq, Jul 2008]
ADARB2	chr10	1177318	1737476	-	ENSG00000185736.15	protein_coding	ADAR3|RED2	10p15.3	adenosine deaminase RNA specific B2 (inactive)	This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [provided by RefSeq, Jul 2008]
ADAT1	chr16	75596981	75623300	-	ENSG00000065457.10	protein_coding	HADAT1	16q23.1	adenosine deaminase tRNA specific 1	This gene is a member of the ADAR (adenosine deaminase acting on RNA) family. Using site-specific adenosine modification, proteins encoded by these genes participate in the pre-mRNA editing of nuclear transcripts. The protein encoded by this gene, tRNA-specific adenosine deaminase 1, is responsible for the deamination of adenosine 37 to inosine in eukaryotic tRNA. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]
ADAT2	chr6	143422832	143450673	-	ENSG00000189007.15	protein_coding	DEADC1|TAD2|dJ20N2|dJ20N2.1	6q24.2	adenosine deaminase tRNA specific 2	Ubiquitous expression in skin (RPKM 2.8), lymph node (RPKM 2.6) and 25 other tissues
ADCK1	chr14	77800083	77935012	+	ENSG00000063761.15	protein_coding	-	14q24.3	aarF domain containing kinase 1	-
ADCK5	chr8	144373101	144393242	+	ENSG00000173137.11	protein_coding	-	8q24.3	aarF domain containing kinase 5	-
ADCY1	chr7	45574140	45723116	+	ENSG00000164742.14	protein_coding	AC1|DFNB44	7p12.3	adenylate cyclase 1	This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
ADCY10P1	chr6	41101022	41140835	+	ENSG00000161912.17	transcribed_unprocessed_pseudogene	-	6p21.1	ADCY10 pseudogene 1	-
ADCY3	chr2	24819169	24919839	-	ENSG00000138031.14	protein_coding	AC-III|AC3|BMIQ19	2p23.3	adenylate cyclase 3	This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be widely expressed in various human tissues and may be involved in a number of physiological and pathophysiological metabolic processes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
ADCY4	chr14	24318349	24335093	-	ENSG00000129467.13	protein_coding	AC4	14q12	adenylate cyclase 4	This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]
ADCY5	chr3	123282296	123449758	-	ENSG00000173175.14	protein_coding	AC5|FDFM	3q21.1	adenylate cyclase 5	This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
ADCY6	chr12	48766194	48789037	-	ENSG00000174233.11	protein_coding	AC6|LCCS8	12q13.12	adenylate cyclase 6	This gene encodes a member of the adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic loop, and a C-terminal cytoplasmic domain. The two cytoplasmic regions bind ATP and form the catalytic core of the protein. Adenylyl cyclases are important effectors of transmembrane signaling pathways and are regulated by the activity of G protein coupled receptor signaling. This protein belongs to a small subclass of adenylyl cyclase proteins that are functionally related and are inhibited by protein kinase A, calcium ions and nitric oxide. A mutation in this gene is associated with arthrogryposis multiplex congenita. [provided by RefSeq, May 2015]
ADCY7	chr16	50246137	50318135	+	ENSG00000121281.12	protein_coding	AC7	16q12.1	adenylate cyclase 7	This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. Several transcript variants have been observed for this gene, but the full-length natures of only two have been determined so far. [provided by RefSeq, Oct 2013]
ADCY9	chr16	3953387	4116185	-	ENSG00000162104.9	protein_coding	AC9|ACIX	16p13.3	adenylate cyclase 9	Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq, Jul 2008]
ADCYAP1R1	chr7	31052461	31111479	+	ENSG00000078549.14	protein_coding	PAC1|PAC1R|PACAPR|PACAPRI	7p14.3	ADCYAP receptor type I	This gene encodes type I adenylate cyclase activating polypeptide receptor, which is a membrane-associated protein and shares significant homology with members of the glucagon/secretin receptor family. This receptor mediates diverse biological actions of adenylate cyclase activating polypeptide 1 and is positively coupled to adenylate cyclase. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2010]
ADD1	chr4	2843857	2930076	+	ENSG00000087274.16	protein_coding	ADDA	4p16.3	adducin 1	Adducins are a family of cytoskeletal proteins encoded by three genes (alpha, beta, and gamma). Adducin acts as a heterodimer of the related alpha, beta, or gamma subunits. The protein encoded by this gene represents the alpha subunit. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. [provided by RefSeq, Aug 2017]
ADD2	chr2	70607618	70768225	-	ENSG00000075340.22	protein_coding	ADDB	2p13.3	adducin 2	Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010]
ADD3	chr10	109996368	110135565	+	ENSG00000148700.14	protein_coding	ADDL|CPSQ3	10q25.1-q25.2	adducin 3	Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008]
ADD3-AS1	chr10	109940104	110008381	-	ENSG00000203876.9	processed_transcript	-	10q25.1	ADD3 antisense RNA 1	-
ADGB	chr6	146598965	146815462	+	ENSG00000118492.16	protein_coding	C6orf103|CAPN16	6q24.3	androglobin	Biased expression in testis (RPKM 2.9) and lung (RPKM 0.4)
ADGRA1	chr10	133070929	133131675	+	ENSG00000197177.15	protein_coding	GPR123	10q26.3	adhesion G protein-coupled receptor A1	This gene encodes a protein that belongs to the adhesion family of G-protein-coupled receptors. Members of this family function in several sensory systems and regulate blood pressure, immune responses, food intake and development. A similar protein in rodents is thought to play a role in in the regulation of neuronal signaling pathways. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Mar 2014]
ADGRA1-AS1	chr10	133083073	133088491	-	ENSG00000256925.2	antisense	GPR123-AS1	10q26.3	ADGRA1 antisense RNA 1	Biased expression in brain (RPKM 1.5), adrenal (RPKM 0.4) and 1 other tissue
ADGRA2	chr8	37784191	37844896	+	ENSG00000020181.17	protein_coding	GPR124|TEM5	8p11.23	adhesion G protein-coupled receptor A2	Broad expression in prostate (RPKM 39.9), fat (RPKM 36.6) and 23 other tissues
ADGRB1	chr8	142449430	142545009	+	ENSG00000181790.10	protein_coding	BAI1|GDAIF	8q24.3	adhesion G protein-coupled receptor B1	Angiogenesis is controlled by a local balance between stimulators and inhibitors of new vessel growth and is suppressed under normal physiologic conditions. Angiogenesis has been shown to be essential for growth and metastasis of solid tumors. In order to obtain blood supply for their growth, tumor cells are potently angiogenic and attract new vessels as results of increased secretion of inducers and decreased production of endogenous negative regulators.  BAI1 contains at least one functional p53-binding site within an intron, and its expression has been shown to be induced by wildtype p53. There are two other brain-specific angiogenesis inhibitor genes, designated BAI2 and BAI3 which along with BAI1 have similar tissue specificities and structures, however only BAI1 is transcriptionally regulated by p53. BAI1 is postulated to be a member of the secretin receptor family, an inhibitor of angiogenesis and a growth suppressor of glioblastomas [provided by RefSeq, Jul 2008]
ADGRB2	chr1	31727117	31764893	-	ENSG00000121753.12	protein_coding	BAI2	1p35.2	adhesion G protein-coupled receptor B2	This gene encodes a a seven-span transmembrane protein that is thought to be a member of the secretin receptor family. The encoded protein is a brain-specific inhibitor of angiogenesis. The mature peptide may be further cleaved into additional products (PMID:20367554). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
ADGRB3	chr6	68635367	69389511	+	ENSG00000135298.13	protein_coding	BAI3	6q12-q13	adhesion G protein-coupled receptor B3	This p53-target gene encodes a brain-specific angiogenesis inhibitor, a seven-span transmembrane protein, and is thought to be a member of the secretin receptor family. Brain-specific angiogenesis proteins BAI2 and BAI3 are similar to BAI1 in structure, have similar tissue specificities, and may also play a role in angiogenesis. [provided by RefSeq, Jul 2008]
ADGRD2	chr9	124451425	124478589	+	ENSG00000180264.11	protein_coding	GPR144|PGR24	9q33.3	adhesion G protein-coupled receptor D2	Low expression observed in reference dataset
ADGRE1	chr19	6887566	6940459	+	ENSG00000174837.14	protein_coding	EMR1|TM7LN3	19p13.3-p13.2	adhesion G protein-coupled receptor E1	This gene encodes a protein that has a domain resembling seven transmembrane G protein-coupled hormone receptors (7TM receptors) at its C-terminus. The N-terminus of the encoded protein has six EGF-like modules, separated from the transmembrane segments by a serine/threonine-rich domain, a feature reminiscent of mucin-like, single-span, integral membrane glycoproteins with adhesive properties. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
ADGRE2	chr19	14732393	14778541	-	ENSG00000127507.17	protein_coding	CD312|CD97|EMR2|VBU	19p13.12	adhesion G protein-coupled receptor E2	This gene encodes a member of the class B seven-span transmembrane (TM7) subfamily of G-protein coupled receptors. These proteins are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor-like domains coupled to a TM7 domain via a mucin-like spacer domain. The encoded protein is expressed mainly in myeloid cells where it promotes cell-cell adhesion through interaction with chondroitin sulfate chains. This gene is situated in a cluster of related genes on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
ADGRE3	chr19	14619117	14690027	-	ENSG00000131355.14	protein_coding	EMR3	19p13.12	adhesion G protein-coupled receptor E3	This gene encodes a member of the class B seven-span transmembrane (TM7) receptor family expressed predominantly by cells of the immune system. Family members are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor (EGF)-like domains coupled to a TM7 domain via a mucin-like spacer domain. This gene is closely linked to the gene encoding egf-like molecule containing mucin-like hormone receptor 2 on chromosome 19. This protein may play a role in myeloid-myeloid interactions during immune and inflammatory responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]
ADGRE5	chr19	14380501	14408725	+	ENSG00000123146.19	protein_coding	CD97|TM7LN1	19p13.12	adhesion G protein-coupled receptor E5	This gene encodes a member of the EGF-TM7 subfamily of adhesion G protein-coupled receptors, which mediate cell-cell interactions. These proteins are cleaved by self-catalytic proteolysis into a large extracellular subunit and seven-span transmembrane subunit, which associate at the cell surface as a receptor complex. The encoded protein may play a role in cell adhesion as well as leukocyte recruitment, activation and migration, and contains multiple extracellular EGF-like repeats which mediate binding to chondroitin sulfate and the cell surface complement regulatory protein CD55. Expression of this gene may play a role in the progression of several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms with 3 to 5 EGF-like repeats have been observed for this gene. This gene is found in a cluster with other EGF-TM7 genes on the short arm of chromosome 19. [provided by RefSeq, Jun 2011]
ADGRF2	chr6	47656436	47697797	+	ENSG00000164393.8	protein_coding	GPR111|PGR20|hGPCR35	6p12.3	adhesion G protein-coupled receptor F2	Biased expression in skin (RPKM 1.2), esophagus (RPKM 0.3) and 1 other tissue
ADGRF3	chr2	26308173	26346817	-	ENSG00000173567.14	protein_coding	GPR113|PGR23	2p23.3	adhesion G protein-coupled receptor F3	Low expression observed in reference dataset
ADGRF4	chr6	47685864	47722021	+	ENSG00000153294.11	protein_coding	GPR115|PGR18	6p12.3	adhesion G protein-coupled receptor F4	Sequence analysis of this gene suggests that it is encodes a member of the superfamily of G protein-couple receptors. G protein-coupled receptors typically contain seven hydrophobic transmembrane domains, interact with guanine nucleotide binding regulatory proteins, and detect molecules outside the cell and act to transduce these signals into intracellular responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]
ADGRF5	chr6	46852512	46954943	-	ENSG00000069122.18	protein_coding	GPR116|KPG_001	6p12.3	adhesion G protein-coupled receptor F5	Predicted to enable G protein-coupled receptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway and cell surface receptor signaling pathway. Predicted to act upstream of or within several processes, including glomerular filtration; pharyngeal arch artery morphogenesis; and surfactant homeostasis. Located in cell surface and cytoplasmic vesicle. [provided by Alliance of Genome Resources, Apr 2022]
ADGRG1	chr16	57610652	57665580	+	ENSG00000205336.11	protein_coding	BFPP|BPPR|GPR56|TM7LN4|TM7XN1	16q21	adhesion G protein-coupled receptor G1	This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations in this gene are associated with a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
ADGRG3	chr16	57668187	57689378	+	ENSG00000182885.16	protein_coding	GPR97|PB99|PGR26	16q21	adhesion G protein-coupled receptor G3	Biased expression in bone marrow (RPKM 59.0), appendix (RPKM 9.5) and 1 other tissue
ADGRG5	chr16	57542421	57591681	+	ENSG00000159618.15	protein_coding	GPR114|PGR27	16q21	adhesion G protein-coupled receptor G5	This gene encodes a member of the adhesion family of G-protein coupled receptors. Members of this family are characterized by long N-termini and multiple functional domains. They may play a role in the immune system as well as in the central nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
ADGRG6	chr6	142301854	142446266	+	ENSG00000112414.14	protein_coding	APG1|DREG|GPR126|LCCS9|PR126|PS1TP2|VIGR	6q24.2	adhesion G protein-coupled receptor G6	This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a persons stature. Multiple transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Mar 2009]
ADGRL1	chr19	14147743	14206187	-	ENSG00000072071.16	protein_coding	CIRL1|CL1|LEC2|LPHN1	19p13.12	adhesion G protein-coupled receptor L1	This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. Latrophilin-1 has been shown to recruit the neurotoxin from black widow spider venom, alpha-latrotoxin, to the synapse plasma membrane. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Oct 2008]
ADGRL2	chr1	81306160	81992436	+	ENSG00000117114.19	protein_coding	CIRL2|CL2|LEC1|LPHH1|LPHN2	1p31.1	adhesion G protein-coupled receptor L2	This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors. The encoded protein participates in the regulation of exocytosis. The proprotein is thought to be further cleaved within a cysteine-rich G-protein-coupled receptor proteolysis site into two chains that are non-covalently bound at the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
ADGRL3	chr4	61201258	62078335	+	ENSG00000150471.16	protein_coding	CIRL3|CL3|LEC3|LPHN3	4q13.1	adhesion G protein-coupled receptor L3	This gene encodes a member of the latrophilin subfamily of G-protein coupled receptors (GPCR). Latrophilins may function in both cell adhesion and signal transduction. In experiments with non-human species, endogenous proteolytic cleavage within a cysteine-rich GPS (G-protein-coupled-receptor proteolysis site) domain resulted in two subunits (a large extracellular N-terminal cell adhesion subunit and a subunit with substantial similarity to the secretin/calcitonin family of GPCRs) being non-covalently bound at the cell membrane. [provided by RefSeq, Jul 2008]
ADGRL4	chr1	78889764	79006718	-	ENSG00000162618.13	protein_coding	ELTD1|ETL|KPG_003	1p31.1	adhesion G protein-coupled receptor L4	Broad expression in fat (RPKM 38.7), spleen (RPKM 20.4) and 20 other tissues
ADH1A	chr4	99276367	99291028	-	ENSG00000187758.7	protein_coding	ADH1	4q23	alcohol dehydrogenase 1A (class I), alpha polypeptide	This gene encodes a member of the alcohol dehydrogenase family. The encoded protein is the alpha subunit of class I alcohol dehydrogenase, which consists of several homo- and heterodimers of alpha, beta and gamma subunits. Alcohol dehydrogenases catalyze the oxidation of alcohols to aldehydes. This gene is active in the liver in early fetal life but only weakly active in adult liver. This gene is found in a cluster with six additional alcohol dehydrogenase genes, including those encoding the beta and gamma subunits, on the long arm of chromosome 4. Mutations in this gene may contribute to variation in certain personality traits and substance dependence. [provided by RefSeq, Nov 2010]
ADH1B	chr4	99304964	99352760	-	ENSG00000196616.13	protein_coding	ADH2|HEL-S-117	4q23	alcohol dehydrogenase 1B (class I), beta polypeptide	The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
ADH4	chr4	99123657	99157792	-	ENSG00000198099.8	protein_coding	ADH-2|HEL-S-4	4q23	alcohol dehydrogenase 4 (class II), pi polypeptide	This gene encodes class II alcohol dehydrogenase 4 pi subunit, which is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class II alcohol dehydrogenase is a homodimer composed of 2 pi subunits. It exhibits a high activity for oxidation of long-chain aliphatic alcohols and aromatic alcohols and is less sensitive to pyrazole. This gene is localized to chromosome 4 in the cluster of alcohol dehydrogenase genes. [provided by RefSeq, Jul 2008]
ADH5	chr4	99070978	99088801	-	ENSG00000197894.10	protein_coding	ADH-3|ADHX|AMEDS|BMFS7|FALDH|FDH|GSH-FDH|GSNOR|HEL-S-60p	4q23	alcohol dehydrogenase 5 (class III), chi polypeptide	This gene encodes a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. The encoded protein forms a homodimer. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione. This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. The human genome contains several non-transcribed pseudogenes related to this gene. [provided by RefSeq, Oct 2008]
ADH5P3	chr1	240170155	240171291	+	ENSG00000223694.1	processed_pseudogene	-	1q43	ADH5 pseudogene 3	-
ADH6	chr4	99202638	99219537	-	ENSG00000172955.17	protein_coding	ADH-5	4q23	alcohol dehydrogenase 6 (class V)	This gene encodes class V alcohol dehydrogenase, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This gene is expressed in the stomach as well as in the liver, and it contains a glucocorticoid response element upstream of its 5 UTR, which is a steroid hormone receptor binding site. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ADHFE1	chr8	66430185	66471601	+	ENSG00000147576.15	protein_coding	ADH8|HMFT2263|HOT	8q13.1	alcohol dehydrogenase iron containing 1	The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]
ADIPOQ	chr3	186842690	186858463	+	ENSG00000181092.9	protein_coding	ACDC|ACRP30|ADIPQTL1|ADPN|APM-1|APM1|GBP28	3q27.3	adiponectin, C1Q and collagen domain containing	This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010]
ADIPOQ-AS1	chr3	186851886	186856123	-	ENSG00000226482.1	antisense	-	3q27.3	ADIPOQ antisense RNA 1	-
ADIPOR1	chr1	202940823	202958572	-	ENSG00000159346.12	protein_coding	ACDCR1|CGI-45|CGI45|PAQR1|TESBP1A	1q32.1	adiponectin receptor 1	This gene encodes a protein which acts as a receptor for adiponectin, a hormone secreted by adipocytes which regulates fatty acid catabolism and glucose levels. Binding of adiponectin to the encoded protein results in activation of an AMP-activated kinase signaling pathway which affects levels of fatty acid oxidation and insulin sensitivity. A pseudogene of this gene is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2014]
ADIPOR2	chr12	1688574	1788678	+	ENSG00000006831.9	protein_coding	ACDCR2|PAQR2	12p13.33	adiponectin receptor 2	The adiponectin receptors, ADIPOR1 (MIM 607945) and ADIPOR2, serve as receptors for globular and full-length adiponectin (MIM 605441) and mediate increased AMPK (see MIM 602739) and PPAR-alpha (PPARA; MIM 170998) ligand activities, as well as fatty acid oxidation and glucose uptake by adiponectin (Yamauchi et al., 2003 [PubMed 12802337]).[supplied by OMIM, Mar 2008]
ADIRF	chr10	86968192	86983934	+	ENSG00000148671.13	protein_coding	AFRO|APM2|C10orf116|apM-2	10q23.2	adipogenesis regulatory factor	APM2 gene is exclusively expressed in adipose tissue. Its function is currently unknown. [provided by RefSeq, Jul 2008]
ADIRF-AS1	chr10	86965345	86971311	-	ENSG00000272734.1	processed_transcript	-	10q23.2	ADIRF antisense RNA 1	-
ADK	chr10	74151185	74709303	+	ENSG00000156110.13	protein_coding	AK	10q22.2|10q11-q24	adenosine kinase	This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
ADM	chr11	10304680	10307397	+	ENSG00000148926.9	protein_coding	AM|PAMP	11p15.4	adrenomedullin	The protein encoded by this gene is a preprohormone which is cleaved to form two biologically active peptides, adrenomedullin and proadrenomedullin N-terminal 20 peptide. Adrenomedullin is a 52 aa peptide with several functions, including vasodilation, regulation of hormone secretion, promotion of angiogenesis, and antimicrobial activity. The antimicrobial activity is antibacterial, as the peptide has been shown to kill E. coli and S. aureus at low concentration. [provided by RefSeq, Aug 2014]
ADM2	chr22	50481556	50486440	+	ENSG00000128165.8	protein_coding	AM2|dJ579N16.4	22q13.33	adrenomedullin 2	This gene encodes a member of the calcitonin gene-related peptide (CGRP)/calcitonin family of hormones that play a role in the regulation of cardiovascular homeostasis, prolactin release, anti-diuresis, anti-natriuresis, and regulation of food and water intake. The encoded protein is proteolytically processed to generate one or more biologically active peptides. [provided by RefSeq, Jul 2015]
ADNP	chr20	50888919	50931240	-	ENSG00000101126.15	protein_coding	ADNP1|HVDAS|MRD28	20q13.13	activity dependent neuroprotector homeobox	Vasoactive intestinal peptide is a neuroprotective factor that has a stimulatory effect on the growth of some tumor cells and an inhibitory effect on others. This gene encodes a protein that is upregulated by vasoactive intestinal peptide and may be involved in its stimulatory effect on certain tumor cells. The encoded protein contains one homeobox and nine zinc finger domains, suggesting that it functions as a transcription factor. This gene is also upregulated in normal proliferative tissues. Finally, the encoded protein may increase the viability of certain cell types through modulation of p53 activity. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
ADO	chr10	62804857	62808483	+	ENSG00000181915.4	protein_coding	C10orf22	10q21.3	2-aminoethanethiol dioxygenase	Human thiol dioxygenases include cysteine dioxygenase (CDO; MIM 603943) and cysteamine (2-aminoethanethiol) dioxygenase (ADO; EC 1.13.11.19). CDO adds 2 oxygen atoms to free cysteine, whereas ADO adds 2 oxygen atoms to free cysteamine to form hypotaurine (Dominy et al., 2007 [PubMed 17581819]).[supplied by OMIM, Mar 2008]
ADORA1	chr1	203090654	203167405	+	ENSG00000163485.16	protein_coding	RDC7	1q32.1	adenosine A1 receptor	The protein encoded by this gene is an adenosine receptor that belongs to the G-protein coupled receptor 1 family. There are 3 types of adenosine receptors, each with a specific pattern of ligand binding and tissue distribution, and together they regulate a diverse set of physiologic functions. The type A1 receptors inhibit adenylyl cyclase, and play a role in the fertilization process. Animal studies also suggest a role for A1 receptors in kidney function and ethanol intoxication. Transcript variants with alternative splicing in the 5 UTR have been found for this gene. [provided by RefSeq, Jul 2008]
ADORA2A	chr22	24417879	24442360	+	ENSG00000128271.21	protein_coding	A2aR|ADORA2|RDC8	22q11.23	adenosine A2a receptor	This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily, which is subdivided into classes and subtypes. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein, an adenosine receptor of A2A subtype, uses adenosine as the preferred endogenous agonist and preferentially interacts with the G(s) and G(olf) family of G proteins to increase intracellular cAMP levels. It plays an important role in many biological functions, such as cardiac rhythm and circulation, cerebral and renal blood flow, immune function, pain regulation, and sleep. It has been implicated in pathophysiological conditions such as inflammatory diseases and neurodegenerative disorders. Alternative splicing results in multiple transcript variants. A read-through transcript composed of the upstream SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]
ADORA2B	chr17	15944917	15975746	+	ENSG00000170425.3	protein_coding	ADORA2	17p12	adenosine A2b receptor	This gene encodes an adenosine receptor that is a member of the G protein-coupled receptor superfamily. This integral membrane protein stimulates adenylate cyclase activity in the presence of adenosine. This protein also interacts with netrin-1, which is involved in axon elongation. The gene is located near the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
ADORA2BP1	chr1	209744373	209745214	+	ENSG00000236136.1	processed_pseudogene	ADORA2BP	1q32.2	adenosine A2b receptor pseudogene 1	-
ADORA3	chr1	111499429	111503760	-	ENSG00000282608.1	protein_coding	A3AR	1p13.2	adenosine A3 receptor	This gene encodes a protein that belongs to the family of adenosine receptors, which are G-protein-coupled receptors that are involved in a variety of intracellular signaling pathways and physiological functions. The receptor encoded by this gene mediates a sustained cardioprotective function during cardiac ischemia, it is involved in the inhibition of neutrophil degranulation in neutrophil-mediated tissue injury, it has been implicated in both neuroprotective and neurodegenerative effects, and it may also mediate both cell proliferation and cell death. Alternative splicing results in multiple transcript variants. This gene shares its 5 terminal exon with some transcripts from overlapping GeneID:57413, which encodes an immunoglobulin domain-containing protein. [provided by RefSeq, Nov 2014]
ADPGK	chr15	72751369	72785846	-	ENSG00000159322.17	protein_coding	2610017G09Rik|ADP-GK	15q24.1	ADP dependent glucokinase	ADPGK (EC 2.7.1.147) catalyzes the ADP-dependent phosphorylation of glucose to glucose-6-phosphate and may play a role in glycolysis, possibly during ischemic conditions (Ronimus and Morgan, 2004 [PubMed 14975750]).[supplied by OMIM, Mar 2008]
ADPGK-AS1	chr15	72782835	72798199	+	ENSG00000260898.5	antisense	-	15q24.1	ADPGK antisense RNA 1	-
ADPRH	chr3	119579268	119589945	+	ENSG00000144843.11	protein_coding	ARH1|hARH1	3q13.33	ADP-ribosylarginine hydrolase	The enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike the rat and mouse enzymes that require DTT for maximal activity, the human enzyme is DTT-independent. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, May 2014]
ADPRS	chr1	 36088892	36093932	+	ENSG00000116863	protein-coding	ADPRHL2|ARH3|CONDSIAS	1p34.3	ADP-ribosylserine hydrolase	-
ADRA1A	chr8	26748150	26867273	-	ENSG00000120907.17	protein_coding	ADRA1C|ADRA1L1|ALPHA1AAR	8p21.2	adrenoceptor alpha 1A	Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1A-adrenergic receptor. Alternative splicing of this gene generates four transcript variants, which encode four different isoforms with distinct C-termini but having similar ligand binding properties. [provided by RefSeq, Jul 2008]
ADRA1D	chr20	4220631	4249074	-	ENSG00000171873.7	protein_coding	ADRA1|ADRA1A|ADRA1R|ALPHA1|DAR|dJ779E11.2	20p13	adrenoceptor alpha 1D	Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1D-adrenergic receptor. Similar to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron that interrupts the coding region. [provided by RefSeq, Jul 2008]
ADRA2A	chr10	111077163	111080907	+	ENSG00000150594.6	protein_coding	ADRA2|ADRA2R|ADRAR|ALPHA2AAR|ZNF32	10q25.2	adrenoceptor alpha 2A	Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. The alpha-2-adrenergic receptors are a type of adrenergic receptors (for adrenaline or epinephrine), which inhibit adenylate cyclase. These receptors include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. They are involved in regulating the release of neurotransmitter molecules from sympathetic nerves and from adrenergic neurons in the central nervous system. The sympathetic nervous system regulates cardiovascular function by activating adrenergic receptors in the heart, blood vessels and kidney. Studies in mouse revealed that both the alpha2A and alpha2C receptor subtypes were required for presynaptic transmitter release from the sympathetic nervous system in the heart and from central noradrenergic neurons. The alpha-2-adrenergic receptors are also involved in catecholamine signaling by extracellular regulated protein kinase 1 and 2 (ERK1/2) pathways. A clear association between the alpha-2-adrenergic receptor and disease has not been yet established. [provided by RefSeq, Sep 2019]
ADRA2B	chr2	96112875	96116245	-	ENSG00000274286.1	protein_coding	ADRA2L1|ADRA2RL1|ADRARL1|ALPHA2BAR|FAME2|alpha-2BAR	2q11.2	adrenoceptor alpha 2B	This intronless gene encodes a seven-pass transmembrane protein. This protein is a member of a subfamily of G protein-coupled receptors that regulate neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. [provided by RefSeq, Apr 2014]
ADRA2C	chr4	3766348	3768526	+	ENSG00000184160.7	protein_coding	ADRA2L2|ADRA2RL2|ADRARL2|ALPHA2CAR	4p16.3	adrenoceptor alpha 2C	Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. These receptors have a critical role in regulating neurotransmitter release from sympathetic nerves and from adrenergic neurons in the central nervous system. The mouse studies revealed that both the alpha2A and alpha2C subtypes were required for normal presynaptic control of transmitter release from sympathetic nerves in the heart and from central noradrenergic neurons. The alpha2A subtype inhibited transmitter release at high stimulation frequencies, whereas the alpha2C subtype modulated neurotransmission at lower levels of nerve activity. This gene encodes the alpha2C subtype, which contains no introns in either its coding or untranslated sequences. [provided by RefSeq, Jul 2008]
ADRB1	chr10	114044056	114046908	+	ENSG00000043591.5	protein_coding	ADRB1R|B1AR|BETA1AR|FNSS2|RHR	10q25.3	adrenoceptor beta 1	The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Beta-1 adrenoceptors are predominately located in the heart. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Sep 2019]
ADRB2	chr5	148825245	148828687	+	ENSG00000169252.5	protein_coding	ADRB2R|ADRBR|B2AR|BAR|BETA2AR	5q32	adrenoceptor beta 2	This gene encodes beta-2-adrenergic receptor which is a member of the G protein-coupled receptor superfamily. This receptor is directly associated with one of its ultimate effectors, the class C L-type calcium channel Ca(V)1.2. This receptor-channel complex also contains a G protein, an adenylyl cyclase, cAMP-dependent kinase, and the counterbalancing phosphatase, PP2A. The assembly of the signaling complex provides a mechanism that ensures specific and rapid signaling by this G protein-coupled receptor. This receptor is also a transcription regulator of the alpha-synuclein gene, and together, both genes are believed to be associated with risk of Parkinsons Disease. This gene is intronless. Different polymorphic forms, point mutations, and/or downregulation of this gene are associated with nocturnal asthma, obesity, type 2 diabetes and cardiovascular disease. [provided by RefSeq, Oct 2019]
ADRM1	chr20	62302093	62308862	+	ENSG00000130706.12	protein_coding	ARM-1|ARM1|GP110|PSMD16	20q13.33	ADRM1 26S proteasome ubiquitin receptor	This gene encodes a member of the adhesion regulating molecule 1 protein family. The encoded protein is a component of the proteasome where it acts as a ubiquitin receptor and recruits the deubiquitinating enzyme, ubiquitin carboxyl-terminal hydrolase L5. Increased levels of the encoded protein are associated with increased cell adhesion, which is likely an indirect effect of this intracellular protein. Dysregulation of this gene has been implicated in carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
ADSL	chr22	40346500	40390463	+	ENSG00000239900.12	protein_coding	AMPS|ASASE|ASL	22q13.1	adenylosuccinate lyase	The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
ADSS1	chr14	 104724229	104747325	+	ENSG00000185100	protein-coding	ADSSL1|MPD5	14q32.33	adenylosuccinate synthase 1	This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
ADSS2	chr1	 244408494	244452060	-	ENSG00000035687	protein-coding	ADEH|ADSS|ADSS 2	1q44	adenylosuccinate synthase 2	This gene encodes the enzyme adenylosuccinate synthetase which catalyzes the first committed step in the conversion of inosine monophosphate to adenosine monophosphate. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Nov 2010]
ADTRP	chr6	11712054	11807046	-	ENSG00000111863.12	protein_coding	AIG1L|C6orf105|dJ413H6.1	6p24.1	androgen dependent TFPI regulating protein	Biased expression in small intestine (RPKM 12.0), duodenum (RPKM 8.7) and 8 other tissues
AE000661.37	chr14	22380680	22482959	-	ENSG00000251002.7	processed_transcript	-	-	-	-
AEBP1	chr7	44104361	44114562	+	ENSG00000106624.10	protein_coding	ACLP	7p13	AE binding protein 1	This gene encodes a member of carboxypeptidase A protein family. The encoded protein may function as a transcriptional repressor and play a role in adipogenesis and smooth muscle cell differentiation. Studies in mice suggest that this gene functions in wound healing and abdominal wall development. Overexpression of this gene is associated with glioblastoma. [provided by RefSeq, May 2013]
AEBP2	chr12	19404045	19720801	+	ENSG00000139154.14	protein_coding	-	12p12.3	AE binding protein 2	-
AEN	chr15	88621296	88632282	+	ENSG00000181026.14	protein_coding	ISG20L1|pp12744	15q26.1	apoptosis enhancing nuclease	Ubiquitous expression in gall bladder (RPKM 5.8), thyroid (RPKM 5.8) and 25 other tissues
AF001548.3	chr16	15790975	15792717	-	ENSG00000280429.1	TEC	-	-	-	-
AF064858.10	chr21	39028536	39029128	-	ENSG00000237609.1	lincRNA	-	-	-	-
AF064858.11	chr21	39006648	39011329	-	ENSG00000237721.1	lincRNA	-	-	-	-
AF064858.6	chr21	38863676	38956467	-	ENSG00000205622.9	lincRNA	-	-	-	-
AF064858.8	chr21	38988707	39006153	-	ENSG00000235888.1	lincRNA	-	-	-	-
AF064860.7	chr21	39727755	39730680	+	ENSG00000231713.2	lincRNA	-	-	-	-
AF124730.4	chr21	29182027	29187795	-	ENSG00000224649.1	antisense	-	-	-	-
AF127577.12	chr21	15067070	15067837	+	ENSG00000236471.1	lincRNA	-	-	-	-
AF127936.7	chr21	14819699	14918552	-	ENSG00000281903.2	lincRNA	-	-	-	-
AF129075.5	chr21	29058073	29060095	-	ENSG00000231125.2	sense_intronic	-	-	-	-
AF131215.2	chr8	11107788	11109726	-	ENSG00000255310.2	sense_intronic	-	-	-	-
AF131215.3	chr8	11123381	11126064	-	ENSG00000254936.4	sense_intronic	-	-	-	-
AF131215.4	chr8	11136898	11138607	-	ENSG00000254556.1	sense_intronic	-	-	-	-
AF131215.6	chr8	11062647	11067089	-	ENSG00000254839.1	lincRNA	-	-	-	-
AF131215.8	chr8	11202965	11203671	+	ENSG00000270076.1	lincRNA	-	-	-	-
AF131215.9	chr8	11104691	11106704	-	ENSG00000269918.1	sense_intronic	-	-	-	-
AF131216.5	chr8	11345748	11347502	-	ENSG00000255020.1	antisense	-	-	-	-
AF131216.6	chr8	11315859	11325429	-	ENSG00000246477.3	antisense	-	-	-	-
AF131216.7	chr8	11283481	11285068	-	ENSG00000280273.2	antisense	-	-	-	-
AF131217.1	chr21	28439346	28674848	-	ENSG00000232855.6	lincRNA	-	-	-	-
AF178030.2	chr8	115509602	115511325	+	ENSG00000227170.1	antisense	-	-	-	-
AF186192.1	chr8	144698614	144699185	-	ENSG00000254533.1	lincRNA	-	-	-	-
AF186192.5	chr8	144700353	144708517	+	ENSG00000255085.8	transcribed_unprocessed_pseudogene	-	-	-	-
AF213884.2	chr4	102500841	102501319	-	ENSG00000260651.1	antisense	-	-	-	-
AF224669.3	chr4	102662611	102663073	+	ENSG00000241981.2	processed_pseudogene	-	-	-	-
AF230666.2	chr8	132838117	132844298	-	ENSG00000223697.3	antisense	-	-	-	-
AFAP1	chr4	7758714	7939926	-	ENSG00000196526.10	protein_coding	AFAP|AFAP-110|AFAP110	4p16.1	actin filament associated protein 1	The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
AFAP1-AS1	chr4	7754090	7778928	+	ENSG00000272620.1	antisense	AFAP1-AS|AFAP1AS	4p16.1	AFAP1 antisense RNA 1	This gene produces a long non-coding RNA that is overexpressed in tumor cells and may promote cancer cell metastasis. [provided by RefSeq, Dec 2017]
AFAP1L1	chr5	149271871	149341802	+	ENSG00000157510.13	protein_coding	-	5q32	actin filament associated protein 1 like 1	-
AFAP1L2	chr10	114294824	114404756	-	ENSG00000169129.14	protein_coding	CTB-1144G6.4|KIAA1914|XB130	10q25.3	actin filament associated protein 1 like 2	Broad expression in thyroid (RPKM 34.2), spleen (RPKM 23.9) and 15 other tissues
AFDN	chr6	167826922	167972023	+	ENSG00000130396.20	protein_coding	AF6|MLL-AF6|MLLT4|l-afadin	6q27	afadin, adherens junction formation factor	This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011]
AFDN-DT	chr6	 167823890	167826796	-	-	ncRNA	AFDN-AS1|C6orf124|HGC6.4|MLLT4-AS1|dJ431P23.3	6q27	AFDN divergent transcript	Broad expression in prostate (RPKM 1.2), testis (RPKM 1.0) and 22 other tissues
AFF1	chr4	86935002	87141054	+	ENSG00000172493.20	protein_coding	AF4|MLLT2|PBM1	4q21.3-q22.1	AF4/FMR2 family member 1	This gene encodes a member of the AF4/ lymphoid nuclear protein related to the Fragile X E syndrome (FRAXE) family of proteins, which have been implicated in human childhood lymphoblastic leukemia, fragile chromosome X intellectual disability, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
AFF3	chr2	99545419	100142739	-	ENSG00000144218.18	protein_coding	KINS|LAF4|MLLT2-like	2q11.2	AF4/FMR2 family member 3	This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
AFF4	chr5	132875379	132963634	-	ENSG00000072364.12	protein_coding	AF5Q31|CHOPS|MCEF	5q31.1	AF4/FMR2 family member 4	The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]
AFG3L1P	chr16	89972586	90002161	+	ENSG00000223959.8	transcribed_unitary_pseudogene	AFG3|AFG3L1	16q24.3	AFG3 like matrix AAA peptidase subunit 1, pseudogene	Ubiquitous expression in skin (RPKM 5.2), lymph node (RPKM 5.0) and 25 other tissues
AFMID	chr17	78187317	78207701	+	ENSG00000183077.15	protein_coding	FKF|KF|KFA	17q25.3	arylformamidase	Predicted to enable hydrolase activity. Predicted to be involved in tryptophan catabolic process to kynurenine. Predicted to be located in cytosol and nucleus. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
AGA	chr4	177430770	177442503	-	ENSG00000038002.8	protein_coding	AGU|ASRG|GA	4q34.3	aspartylglucosaminidase	This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [provided by RefSeq, Nov 2015]
AGAP1	chr2	235494089	236131800	+	ENSG00000157985.18	protein_coding	AGAP-1|CENTG2|GGAP1|cnt-g2	2q37.2	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
AGAP10P	chr10	45678692	45700532	+	ENSG00000230869.1	unprocessed_pseudogene	AGAP10|CTGLF10P|CTGLF7|bA144G6.2|bA358L16.1	10q11.22	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10, pseudogene	-
AGAP12P	chr10	48009873	48031640	-	ENSG00000265018.6	transcribed_unprocessed_pseudogene	CTGLF12P|PTPN20CP	10q11.22	ArfGAP with GTPase domain, ankyrin repeat and PH domain 12, pseudogene	Ubiquitous expression in testis (RPKM 13.7), skin (RPKM 12.3) and 25 other tissues
AGAP14P	chr10	 46337261	46357864	+	-	pseudogene	AGAP14|CTGLF11P|bA145E20.1	10q11.22	ArfGAP with GTPase domain, ankyrin repeat and PH domain 14, pseudogene	-
AGAP2	chr12	57723761	57742157	-	ENSG00000135439.11	protein_coding	CENTG1|GGAP2|PIKE	12q14.1	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	The protein encoded by this gene belongs to the centaurin gamma-like family. It mediates anti-apoptotic effects of nerve growth factor by activating nuclear phosphoinositide 3-kinase. It is overexpressed in cancer cells, and promotes cancer cell invasion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
AGAP2-AS1	chr12	57726271	57728356	+	ENSG00000255737.2	antisense	PUNISHER	12q14.1	AGAP2 antisense RNA 1	Biomarker of lung non-small cell carcinoma; malignant astrocytoma; and stomach cancer. [provided by Alliance of Genome Resources, Apr 2022]
AGAP3	chr7	151085831	151144436	+	ENSG00000133612.18	protein_coding	AGAP-3|CENTG3|CRAG|MRIP-1|cnt-g3	7q36.1	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	This gene encodes an essential component of the N-methyl-D-aspartate (NMDA) receptor signaling complex which mediates long-term potentiation in synapses by linking activation of NMDA receptor to alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor trafficking. The encoded protein contains an N-terminal GTPase-like domain, a pleckstrin homology domain, an ArfGAP domain and several C-terminal ankryn repeat domains. [provided by RefSeq, Apr 2017]
AGAP4	chr10	45825594	45853875	-	ENSG00000188234.13	protein_coding	AGAP-4|AGAP-8|AGAP8|CTGLF1|CTGLF5|MRIP2	10q11.22	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	Ubiquitous expression in testis (RPKM 6.1), skin (RPKM 5.3) and 25 other tissues
AGAP5	chr10	73674285	73698159	-	ENSG00000172650.13	protein_coding	CTGLF2	10q22.2	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	Ubiquitous expression in testis (RPKM 13.9), skin (RPKM 9.7) and 25 other tissues
AGAP6	chr10	49982190	50010499	+	ENSG00000204149.10	protein_coding	AGAP-6|CTGLF3	10q11.23	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	Ubiquitous expression in testis (RPKM 10.9), skin (RPKM 8.4) and 25 other tissues
AGAP7P	chr10	46109621	46131358	+	ENSG00000264204.2	unprocessed_pseudogene	AGAP-7|AGAP7|CTGLF4|bA109G10.1	10q11.22	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7, pseudogene	-
AGBL2	chr11	47659591	47715389	-	ENSG00000165923.15	protein_coding	CCP2	11p11.2	AGBL carboxypeptidase 2	Biased expression in testis (RPKM 8.5), lung (RPKM 1.3) and 7 other tissues
AGBL3	chr7	134986508	135147963	+	ENSG00000146856.14	protein_coding	CCP3	7q33	AGBL carboxypeptidase 3	Broad expression in testis (RPKM 2.0), endometrium (RPKM 0.4) and 16 other tissues
AGBL4	chr1	48532855	50023913	-	ENSG00000186094.16	protein_coding	CCP6	1p33	AGBL carboxypeptidase 4	Low expression observed in reference dataset
AGBL5	chr2	27042364	27070622	+	ENSG00000084693.15	protein_coding	CCP5|RP75	2p23.3	AGBL carboxypeptidase 5	This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a dual-functional deglutamylase that can remove glutamate residues from both carboxyl termini and side chains of protein substrates. This deglutamylase activity may be important in antiviral immunity. Mutations in this gene are associated with retinitis pigmentosa. [provided by RefSeq, Jul 2016]
AGBL5-IT1	chr2	27061038	27061815	+	ENSG00000229122.1	sense_intronic	-	2p23.3	AGBL5 intronic transcript 1	-
AGER	chr6	32180968	32184324	-	ENSG00000204305.13	protein_coding	RAGE|SCARJ1|sRAGE	6p21.32	advanced glycosylation end-product specific receptor	The advanced glycosylation end product (AGE) receptor encoded by this gene is a member of the immunoglobulin superfamily of cell surface receptors. It is a multiligand receptor, and besides AGE, interacts with other molecules implicated in homeostasis, development, and inflammation, and certain diseases, such as diabetes and Alzheimers disease. Many alternatively spliced transcript variants encoding different isoforms, as well as non-protein-coding variants, have been described for this gene (PMID:18089847). [provided by RefSeq, May 2011]
AGFG1	chr2	227472152	227561214	+	ENSG00000173744.17	protein_coding	HRB|RAB|RIP	2q36.3	ArfGAP with FG repeats 1	The protein encoded by this gene is related to nucleoporins, a class of proteins that mediate nucleocytoplasmic transport. The encoded protein binds the activation domain of the human immunodeficiency virus Rev protein when Rev is assembled onto its RNA target, and is required for the nuclear export of Rev-directed RNAs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
AGFG2	chr7	100539211	100568219	+	ENSG00000106351.12	protein_coding	HRBL|RABR	7q22.1	ArfGAP with FG repeats 2	This gene is a member of the HIV-1 Rev binding protein (HRB) family and encodes a protein with one Arf-GAP zinc finger domain, several phe-gly (FG) motifs, and four asn-pro-phe (NPF) motifs. This protein interacts with Eps15 homology (EH) domains and plays a role in the Rev export pathway, which mediates the nucleocytoplasmic transfer of proteins and RNAs. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Feb 2013]
AGGF1	chr5	77029251	77065234	+	ENSG00000164252.12	protein_coding	GPATC7|GPATCH7|HSU84971|HUS84971|VG5Q	5q13.3	angiogenic factor with G-patch and FHA domains 1	This gene encodes an angiogenic factor that promotes proliferation of endothelial cells. Mutations in this gene are associated with a susceptibility to Klippel-Trenaunay syndrome. Pseudogenes of this gene are found on chromosomes 3, 4, 10 and 16.[provided by RefSeq, Sep 2010]
AGGF1P10	chr20	29430723	29432913	+	ENSG00000282968.1	processed_pseudogene	-	20q11.1	angiogenic factor with G-patch and FHA domains 1 pseudogene 10	-
AGK	chr7	141551189	141655244	+	ENSG00000006530.15	protein_coding	CATC5|CTRCT38|MTDPS10|MULK	7q34	acylglycerol kinase	The protein encoded by this gene is a mitochondrial membrane protein involved in lipid and glycerolipid metabolism. The encoded protein is a lipid kinase that catalyzes the formation of phosphatidic and lysophosphatidic acids. Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. [provided by RefSeq, Feb 2012]
AGMAT	chr1	15572353	15585110	-	ENSG00000116771.5	protein_coding	-	1p36.21	agmatinase	-
AGO2	chr8	140520156	140635619	-	ENSG00000123908.11	protein_coding	CASC7|EIF2C2|LESKRES|LINC00980|PPD|Q10	8q24.3	argonaute RISC catalytic component 2	This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
AGO3	chr1	35930718	36072500	+	ENSG00000126070.19	protein_coding	EIF2C3	1p34.3	argonaute RISC catalytic component 3	This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, contains a PAZ domain and a PIWI domain, and may play a role in short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a tandem cluster of closely related family members including argonaute 4 and eukaryotic translation initiation factor 2C, 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
AGO4	chr1	35808172	35857890	+	ENSG00000134698.10	protein_coding	EIF2C4	1p34.3	argonaute RISC component 4	This gene encodes a member of the Argonaute family of proteins which contain PAZ and PIWI domains and play an integral role in RNA interference and short-interfering-RNA-mediated gene silencing. This gene is located on chromosome 1 in a cluster of related family members. [provided by RefSeq, Mar 2017]
AGPAT1	chr6	32168212	32178096	-	ENSG00000204310.12	protein_coding	1-AGPAT1|G15|LPAAT-alpha|LPAATA	6p21.32	1-acylglycerol-3-phosphate O-acyltransferase 1	This gene encodes an enzyme that converts lysophosphatidic acid (LPA) into phosphatidic acid (PA). LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells. This enzyme localizes to the endoplasmic reticulum. This gene is located in the class III region of the human major histocompatibility complex. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
AGPAT2	chr9	136673143	136687423	-	ENSG00000169692.12	protein_coding	1-AGPAT2|BSCL|BSCL1|LPAAB|LPAAT-beta	9q34.3	1-acylglycerol-3-phosphate O-acyltransferase 2	This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
AGPAT3	chr21	43865186	43986536	+	ENSG00000160216.18	protein_coding	1-AGPAT 3|LPAAT-GAMMA1|LPAAT3	21q22.3	1-acylglycerol-3-phosphate O-acyltransferase 3	The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
AGPAT4	chr6	161129979	161274061	-	ENSG00000026652.13	protein_coding	1-AGPAT4|LPAAT-delta|dJ473J16.2	6q26	1-acylglycerol-3-phosphate O-acyltransferase 4	This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. [provided by RefSeq, Jul 2008]
AGPAT4-IT1	chr6	161160105	161161982	-	ENSG00000279355.1	TEC	C6orf59|NCRNA00241	6q26	AGPAT4 intronic transcript 1	-
AGPS	chr2	177392644	177559299	+	ENSG00000018510.13	protein_coding	ADAP-S|ADAS|ADHAPS|ADPS|ALDHPSY|RCDP3	2q31.2	alkylglycerone phosphate synthase	This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]
AGRN	chr1	1020123	1056118	+	ENSG00000188157.14	protein_coding	AGRIN|CMS8|CMSPPD	1p36.33	agrin	This gene encodes one of several proteins that are critical in the development of the neuromuscular junction (NMJ), as identified in mouse knock-out studies. The encoded protein contains several laminin G, Kazal type serine protease inhibitor, and epidermal growth factor domains. Additional post-translational modifications occur to add glycosaminoglycans and disulfide bonds. In one family with congenital myasthenic syndrome affecting limb-girdle muscles, a mutation in this gene was found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
AGRP	chr16	67482571	67483813	-	ENSG00000159723.4	protein_coding	AGRT|ART|ASIP2	16q22.1	agouti related neuropeptide	This gene encodes an antagonist of the melanocortin-3 and melanocortin-4 receptor. It appears to regulate hypothalamic control of feeding behavior via melanocortin receptor and/or intracellular calcium regulation, and thus plays a role in weight homeostasis. Mutations in this gene have been associated with late on-set obesity. [provided by RefSeq, Dec 2009]
AGT	chr1	230702523	230714297	-	ENSG00000135744.7	protein_coding	ANHU|SERPINA8|hFLT1	1q42.2	angiotensinogen	The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure, body fluid and electrolyte homeostasis, and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Nov 2019]
AGTPBP1	chr9	85546539	85742029	-	ENSG00000135049.15	protein_coding	CCP1|CONDCA|NNA1	9q21.33	ATP/GTP binding carboxypeptidase 1	NNA1 is a zinc carboxypeptidase that contains nuclear localization signals and an ATP/GTP-binding motif that was initially cloned from regenerating spinal cord neurons of the mouse.[supplied by OMIM, Jul 2002]
AGTR1	chr3	148697784	148743008	+	ENSG00000144891.17	protein_coding	AG2S|AGTR1B|AT1|AT1AR|AT1B|AT1BR|AT1R|AT2R1|HAT1R	3q24	angiotensin II receptor type 1	Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2020]
AGTRAP	chr1	11736084	11754802	+	ENSG00000177674.15	protein_coding	ATRAP	1p36.22	angiotensin II receptor associated protein	This gene encodes a transmembrane protein localized to the plasma membrane and perinuclear vesicular structures. The gene product interacts with the angiotensin II type I receptor and negatively regulates angiotensin II signaling. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
AGXT	chr2	240868479	240880502	+	ENSG00000172482.4	protein_coding	AGT|AGT1|AGXT1|PH1|SPAT|SPT|TLH6	2q37.3	alanine--glyoxylate and serine--pyruvate aminotransferase	This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]
AHCTF1	chr1	246839098	246931978	-	ENSG00000153207.14	protein_coding	ELYS|MST108|MSTP108|TMBS62	1q44	AT-hook containing transcription factor 1	Broad expression in testis (RPKM 25.0), bone marrow (RPKM 11.9) and 25 other tissues
AHCTF1P1	chr2	 161499067	161507902	-	-	pseudogene	AHCTF1P|ELYS-like	2q24.2	AT-hook containing transcription factor 1 pseudogene 1	-
AHCY	chr20	34280268	34311802	-	ENSG00000101444.12	protein_coding	SAHH|adoHcyase	20q11.22	adenosylhomocysteinase	S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
AHCYL1	chr1	109984686	110023741	+	ENSG00000168710.17	protein_coding	DCAL|IRBIT|PPP1R78|PRO0233|XPVKONA	1p13.3	adenosylhomocysteinase like 1	The protein encoded by this gene interacts with inositol 1,4,5-trisphosphate receptor, type 1 and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
AHCYP2	chr9	120720673	120721972	+	ENSG00000238181.2	processed_pseudogene	-	9q33.2	adenosylhomocysteinase pseudogene 2	-
AHDC1	chr1	27534035	27604431	-	ENSG00000126705.13	protein_coding	MRD25|XIGIS	1p36.11-p35.3	AT-hook DNA binding motif containing 1	This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]
AHI1	chr6	135283532	135497776	-	ENSG00000135541.20	protein_coding	AHI-1|JBTS3|ORF1|dJ71N10.1	6q23.3	Abelson helper integration site 1	This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
AHI1-DT	chr6	 135497801	135716055	+	ENSG00000231028	ncRNA	C6orf217|LINC00271|NCRNA00271	6q23.3	AHI1 divergent transcript	-
AHNAK	chr11	62433542	62556235	-	ENSG00000124942.13	protein_coding	AHNAKRS|PM227	11q12.3	AHNAK nucleoprotein	The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016]
AHNAK2	chr14	104937244	104978357	-	ENSG00000185567.6	protein_coding	C14orf78	14q32.33	AHNAK nucleoprotein 2	This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-terminal PSD-95/Discs-large/ZO-1 (PDZ)-like domain is thought to function in the formation of stable homodimers. The encoded protein may play a role in calcium signaling by associating with calcium channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]
AHR	chr7	17298622	17346152	+	ENSG00000106546.12	protein_coding	RP85|bHLHe76	7p21.1	aryl hydrocarbon receptor	The protein encoded by this gene is a ligand-activated helix-loop-helix transcription factor involved in the regulation of biological responses to planar aromatic hydrocarbons. This receptor has been shown to regulate xenobiotic-metabolizing enzymes such as cytochrome P450. Before ligand binding, the encoded protein is sequestered in the cytoplasm; upon ligand binding, this protein moves to the nucleus and stimulates transcription of target genes. [provided by RefSeq, Sep 2015]
AHRR	chr5	304176	438291	+	ENSG00000063438.16	protein_coding	AHH|AHHR|bHLHe77	5p15.33	aryl-hydrocarbon receptor repressor	The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]
AHSA1	chr14	77457870	77469474	+	ENSG00000100591.7	protein_coding	AHA1|C14orf3|hAha1|p38	14q24.3	activator of HSP90 ATPase activity 1	Enables ATPase activator activity; Hsp90 protein binding activity; and chaperone binding activity. Involved in positive regulation of ATPase activity. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
AHSA2P	chr2	 61177418	61188925	+	ENSG00000173209	pseudogene	AHA1|AHSA2|Hch1	2p15	activator of HSP90 ATPase homolog 2, pseudogene	Ubiquitous expression in spleen (RPKM 24.2), lymph node (RPKM 21.9) and 25 other tissues
AHSP	chr16	31527864	31528803	+	ENSG00000169877.9	protein_coding	EDRF|ERAF	16p11.2	alpha hemoglobin stabilizing protein	This gene encodes a molecular chaperone which binds specifically to free alpha-globin and is involved in hemoglobin assembly. The encoded protein binds to monomeric alpha-globin until it has been transferred to beta-globin to form a heterodimer, which in turn binds to another heterodimer to form the stable tetrameric hemoglobin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
AIDA	chr1	222668013	222713210	-	ENSG00000186063.12	protein_coding	C1orf80	1q41	axin interactor, dorsalization associated	Ubiquitous expression in fat (RPKM 42.6), testis (RPKM 31.5) and 25 other tissues
AIF1	chr6	31615184	31617021	+	ENSG00000204472.12	protein_coding	AIF-1|IBA1|IRT-1|IRT1	6p21.33	allograft inflammatory factor 1	This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 2016]
AIF1L	chr9	131096476	131123152	+	ENSG00000126878.12	protein_coding	C9orf58|IBA2	9q34.12-q34.13	allograft inflammatory factor 1 like	Enables actin filament binding activity. Predicted to be involved in actin filament bundle assembly and ruffle assembly. Located in actin cytoskeleton and focal adhesion. Colocalizes with actin filament. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Apr 2022]
AIFM2	chr10	70098223	70132934	-	ENSG00000042286.14	protein_coding	AMID|FSP1|PRG3	10q22.1	apoptosis inducing factor mitochondria associated 2	This gene encodes a flavoprotein oxidoreductase that binds single stranded DNA and is thought to contribute to apoptosis in the presence of bacterial and viral DNA. The expression of this gene is also found to be induced by tumor suppressor protein p53 in colon cancer cells. [provided by RefSeq, Nov 2010]
AIFM3	chr22	20965108	20981360	+	ENSG00000183773.15	protein_coding	AIFL	22q11.21	apoptosis inducing factor mitochondria associated 3	Biased expression in colon (RPKM 10.4), brain (RPKM 8.4) and 7 other tissues
AIG1	chr6	143060496	143340304	+	ENSG00000146416.17	protein_coding	AIG-1|dJ95L4.1	6q24.2	androgen induced 1	Ubiquitous expression in liver (RPKM 13.8), kidney (RPKM 9.3) and 24 other tissues
AIM2	chr1	159062484	159147096	-	ENSG00000163568.14	protein_coding	PYHIN4	1q23.1-q23.2	absent in melanoma 2	 AIM2 is a member of the IFI20X /IFI16 family.  It plays a putative role in tumorigenic reversion and may control cell proliferation.  Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008]
AIMP1	chr4	106315544	106349226	+	ENSG00000164022.16	protein_coding	EMAP2|EMAPII|HLD3|SCYE1|p43	4q24	aminoacyl tRNA synthetase complex interacting multifunctional protein 1	The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2008]
AIMP2	chr7	6009245	6023834	+	ENSG00000106305.9	protein_coding	HLD17|JTV-1|JTV1|P38	7p22.1	aminoacyl tRNA synthetase complex interacting multifunctional protein 2	The protein encoded by this gene is part of the aminoacyl-tRNA synthetase complex, which contains nine different aminoacyl-tRNA synthetases and three non-enzymatic factors. The encoded protein is one of the non-enzymatic factors and is required for assembly and stability of the complex. [provided by RefSeq, May 2016]
AIP	chr11	67483041	67491103	+	ENSG00000110711.9	protein_coding	ARA9|FKBP16|FKBP37|PITA1|SMTPHN|XAP-2|XAP2	11q13.2	aryl hydrocarbon receptor interacting protein	The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
AIPL1	chr17	6393693	6435199	-	ENSG00000129221.15	protein_coding	AIPL2|LCA4	17p13.2	aryl hydrocarbon receptor interacting protein like 1	Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
AIRE	chr21	44285838	44298648	+	ENSG00000160224.16	protein_coding	AIRE1|APECED|APS1|APSI|PGA1	21q22.3	autoimmune regulator	This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). [provided by RefSeq, Jun 2012]
AIRN	chr6	160003291	160007664	-	ENSG00000268257.2	antisense	AIR|IGF2R-AS|IGF2R-AS1|IGF2RAS|NCRNA00088	6q25.3	antisense of IGF2R non-protein coding RNA	Both spliced and un-spliced long non-coding RNAs are transcribed from this gene. This gene overlaps on the opposite strand the second intron of the insulin-like growth factor 2 receptor gene; a CpG island associated with the second intron denotes an active promoter that drives the expression of this gene. The related mouse gene is responsible for silencing the insulin-like growth factor 2 receptor gene and flanking genes in the imprinted gene cluster of mice. This gene may be expressed in Wilms tumors. [provided by RefSeq, Feb 2013]
AJ003147.8	chr16	3181233	3184018	-	ENSG00000262521.1	lincRNA	-	-	-	-
AJ006998.2	chr21	15370500	15627342	-	ENSG00000229425.2	lincRNA	-	-	-	-
AJ011931.1	chr21	45870854	45873345	+	ENSG00000276633.1	sense_intronic	-	-	-	-
AJ011932.1	chr21	45974489	45974953	+	ENSG00000274248.1	lincRNA	-	-	-	-
AJM1	chr9	 136842478	136848801	+	ENSG00000232434	protein-coding	C9orf172|ajm-1	9q34.3	apical junction component 1 homolog	-
AJUBA	chr14	22971174	22982642	-	ENSG00000129474.15	protein_coding	JUB	14q11.2	ajuba LIM protein	Broad expression in skin (RPKM 17.2), liver (RPKM 8.4) and 15 other tissues
AK1	chr9	127866480	127877743	-	ENSG00000106992.17	protein_coding	HTL-S-58j	9q34.11	adenylate kinase 1	This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mutations in this gene resulting in a functionally inadequate enzyme are associated with a rare genetic disorder causing nonspherocytic hemolytic anemia. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
AK2	chr1	33007940	33080996	-	ENSG00000004455.16	protein_coding	ADK2	1p35.1	adenylate kinase 2	Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]
AK3	chr9	4709559	4742043	-	ENSG00000147853.16	protein_coding	AK3L1|AK6|AKL3L|AKL3L1|FIX	9p24.1	adenylate kinase 3	The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
AK3P3	chr7	23129178	23129841	+	ENSG00000230042.1	processed_pseudogene	-	7p15.3	adenylate kinase 3 pseudogene 3	-
AK3P5	chr10	32944481	32944999	+	ENSG00000228816.1	processed_pseudogene	-	10p11.22	adenylate kinase 3 pseudogene 5	-
AK4	chr1	65147549	65232145	+	ENSG00000162433.14	protein_coding	AK 4|AK3|AK3L1|AK3L2	1p31.3	adenylate kinase 4	This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible transfer of phosphate group among these nucleotides. Five isozymes of adenylate kinase have been identified in vertebrates. Expression of these isozymes is tissue-specific and developmentally regulated. A pseudogene for this gene has been located on chromosome 17. Three transcript variants encoding the same protein have been identified for this gene. Sequence alignment suggests that the gene defined by NM_013410, NM_203464, and NM_001005353 is located on chromosome 1. [provided by RefSeq, Jul 2008]
AK4P1	chr17	31345519	31346190	+	ENSG00000263535.2	processed_pseudogene	AK3P1	17q11.2	adenylate kinase 4 pseudogene 1	-
AK5	chr1	77282051	77559969	+	ENSG00000154027.18	protein_coding	AK6	1p31.1	adenylate kinase 5	This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
AK6	chr5	69350984	69370013	-	ENSG00000085231.13	protein_coding	AD-004|CGI-137|CINAP|CIP|hCINAP	5q13.2	adenylate kinase 6	This gene encodes a protein that belongs to the adenylate kinase family of enzymes. The protein has a nuclear localization and contains Walker A (P-loop) and Walker B motifs and a metal-coordinating residue. The protein may be involved in regulation of Cajal body formation. In human, AK6 and TAF9 (GeneID: 6880) are two distinct genes that share 5 exons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
AK9	chr6	109492856	109691217	-	ENSG00000155085.15	protein_coding	AK 9|AKD1|AKD2|C6orf199|C6orf224|dJ70A9.1	6q21	adenylate kinase 9	The protein encoded by this gene catalyzes the interconversion of nucleosides, possessing both nucleoside monophosphate and diphosphate kinase activities. The encoded protein uses these interconversions to maintain nucleoside homeostasis. [provided by RefSeq, Jul 2016]
AKAP1	chr17	57085092	57121349	+	ENSG00000121057.12	protein_coding	AKAP|AKAP121|AKAP149|AKAP84|D-AKAP1|PPP1R43|PRKA1|SAKAP84|TDRD17	17q22	A-kinase anchoring protein 1	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008]
AKAP10	chr17	19904302	19978343	-	ENSG00000108599.14	protein_coding	AKAP-10|D-AKAP-2|D-AKAP2|PRKA10	17p11.2	A-kinase anchoring protein 10	This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. Polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2012]
AKAP11	chr13	42272153	42323267	+	ENSG00000023516.8	protein_coding	AKAP-11|AKAP220|PPP1R44|PRKA11	13q14.11	A-kinase anchoring protein 11	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008]
AKAP12	chr6	151239999	151358557	+	ENSG00000131016.16	protein_coding	AKAP250|SSeCKS	6q25.1	A-kinase anchoring protein 12	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
AKAP13	chr15	85380571	85749358	+	ENSG00000170776.21	protein_coding	AKAP-13|AKAP-Lbc|ARHGEF13|BRX|HA-3|Ht31|LBC|PRKA13|PROTO-LB|PROTO-LBC|c-lbc|p47	15q25.3	A-kinase anchoring protein 13	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]
AKAP17A	chrX	1591593	1602514	+	ENSG00000197976.11	protein_coding	721P|AKAP-17A|CCDC133|CXYorf3|DXYS155E|PRKA17A|SFRS17A|XE7|XE7Y	X;Y	A-kinase anchoring protein 17A	This locus encodes a protein kinase A anchoring protein. The encoded protein is part of the spliceosome complex and is involved in the regulation of alternate splicing in some mRNA precursors. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Sep 2010]
AKAP3	chr12	4615508	4649047	-	ENSG00000111254.7	protein_coding	AKAP 110|AKAP110|CT82|FSP95|HEL159|PRKA3|SOB1	12p13.32	A-kinase anchoring protein 3	This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013]
AKAP5	chr14	64465499	64474503	+	ENSG00000179841.8	protein_coding	AKAP75|AKAP79|H21	14q23.3	A-kinase anchoring protein 5	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to the RII-beta regulatory subunit of PKA, and also to protein kinase C and the phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the regulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. [provided by RefSeq, Jul 2008]
AKAP6	chr14	32329273	32837681	+	ENSG00000151320.10	protein_coding	ADAP100|ADAP6|AKAP100|PRKA6|mAKAP	14q12	A-kinase anchoring protein 6	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]
AKAP7	chr6	131135666	131283535	+	ENSG00000118507.15	protein_coding	AKAP15|AKAP18	6q23.2	A-kinase anchoring protein 7	This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011]
AKAP8	chr19	15353385	15379798	-	ENSG00000105127.8	protein_coding	AKAP 95|AKAP-8|AKAP-95|AKAP95	19p13.12	A-kinase anchoring protein 8	This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins are scaffold proteins that contain a binding domain for the RI/RII subunit of protein kinase A (PKA) and recruit PKA and other signaling molecules to specific subcellular locations. This gene encodes a nuclear A-kinase anchor protein that binds to the RII alpha subunit of PKA and may play a role in chromosome condensation during mitosis by targeting PKA and the condensin complex to chromatin. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]
AKAP9	chr7	91940867	92110673	+	ENSG00000127914.16	protein_coding	AKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO	7q21.2	A-kinase anchoring protein 9	The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008]
AKIP1	chr11	8911139	8920084	+	ENSG00000166452.11	protein_coding	BCA3|C11orf17	11p15.4	A-kinase interacting protein 1	This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
AKIRIN1	chr1	38991223	39006059	+	ENSG00000174574.15	protein_coding	C1orf108|STRF2	1p34.3	akirin 1	Ubiquitous expression in testis (RPKM 41.1), bone marrow (RPKM 25.3) and 25 other tissues
AKIRIN2	chr6	87675072	87702209	-	ENSG00000135334.8	protein_coding	C6orf166|FBI1|dJ486L4.2	6q15	akirin 2	Ubiquitous expression in bone marrow (RPKM 25.3), spleen (RPKM 21.1) and 24 other tissues
AKNA	chr9	114334156	114394405	-	ENSG00000106948.16	protein_coding	-	9q32	AT-hook transcription factor	-
AKNAD1	chr1	108815898	108858228	-	ENSG00000162641.18	protein_coding	C1orf62	1p13.3	AKNA domain containing 1	This gene encodes a protein which contains a domain found in an AT-hook-containing transcription factor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
AKR1A1	chr1	45550543	45570049	+	ENSG00000117448.13	protein_coding	ALDR1|ALR|ARM|DD3|HEL-S-6	1p34.1	aldo-keto reductase family 1 member A1	This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants of this gene exist, all encoding the same protein. [provided by RefSeq, Jan 2011]
AKR1B1	chr7	134442350	134459284	-	ENSG00000085662.13	protein_coding	ADR|ALDR1|ALR2|AR	7q33	aldo-keto reductase family 1 member B	This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member catalyzes the reduction of a number of aldehydes, including the aldehyde form of glucose, and is thereby implicated in the development of diabetic complications by catalyzing the reduction of glucose to sorbitol. Multiple pseudogenes have been identified for this gene. The nomenclature system used by the HUGO Gene Nomenclature Committee to define human aldo-keto reductase family members is known to differ from that used by the Mouse Genome Informatics database. [provided by RefSeq, Feb 2009]
AKR1B10	chr7	134527592	134541408	+	ENSG00000198074.9	protein_coding	AKR1B11|AKR1B12|ALDRLn|ARL-1|ARL1|HIS|HSI	7q33	aldo-keto reductase family 1 member B10	This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member can efficiently reduce aliphatic and aromatic aldehydes, and it is less active on hexoses. It is highly expressed in adrenal gland, small intestine, and colon, and may play an important role in liver carcinogenesis. [provided by RefSeq, Jul 2008]
AKR1B15	chr7	134549136	134579875	+	ENSG00000227471.8	protein_coding	AKR1B10L|AKR1B10L, AK1R1B7|AKR1R1B7	7q33	aldo-keto reductase family 1 member B15	Biased expression in stomach (RPKM 12.1), duodenum (RPKM 9.7) and 4 other tissues
AKR1C1	chr10	4963253	4983283	+	ENSG00000187134.13	protein_coding	2-ALPHA-HSD|20-ALPHA-HSD|C9|DD1|DD1/DD2|DDH|DDH1|H-37|HAKRC|HBAB|MBAB	10p15.1	aldo-keto reductase family 1 member C1	This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reaction of progesterone to the inactive form 20-alpha-hydroxy-progesterone. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]
AKR1C2	chr10	4987400	5018031	-	ENSG00000151632.17	protein_coding	AKR1C-pseudo|BABP|DD|DD-2|DD/BABP|DD2|DDH2|HAKRD|HBAB|MCDR2|SRXY8|TDD	10p15.1	aldo-keto reductase family 1 member C2	This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols using NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme binds bile acid with high affinity, and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
AKR1C3	chr10	5035354	5107686	+	ENSG00000196139.13	protein_coding	DD3|DDX|HA1753|HAKRB|HAKRe|HSD17B5|PGFS|hluPGFS	10p15.1	aldo-keto reductase family 1 member C3	This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the reduction of prostaglandin (PG) D2, PGH2 and phenanthrenequinone (PQ), and the oxidation of 9alpha,11beta-PGF2 to PGD2. It may play an important role in the pathogenesis of allergic diseases such as asthma, and may also have a role in controlling cell growth and/or differentiation. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
AKR1C4	chr10	5195462	5218949	+	ENSG00000198610.10	protein_coding	3-alpha-HSD|C11|CDR|CHDR|DD-4|DD4|HAKRA	10p15.1	aldo-keto reductase family 1 member C4	This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]
AKR1C7P	chr10	5275173	5288470	-	ENSG00000215267.8	transcribed_unprocessed_pseudogene	-	10p15.1	aldo-keto reductase family 1 member C7, pseudogene	-
AKR1C8	chr10	 5115813	5185150	-	ENSG00000264006	protein-coding	AKR1C8P|AKR1CL1	10p15.1	aldo-keto reductase family 1 member C8	-
AKR1E2	chr10	4786629	4848062	+	ENSG00000165568.17	protein_coding	AKR1CL2|AKRDC1|HTSP1|LoopADR|TAKR|hTSP|htAKR	10p15.1	aldo-keto reductase family 1 member E2	The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependent oxido-reduction of carbonyl groups). Transcripts of this gene have been reported in specimens of human testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
AKR7A2	chr1	19303965	19312146	-	ENSG00000053371.12	protein_coding	AFAR|AFAR1|AFB1-AR1|AKR7	1p36.13	aldo-keto reductase family 7 member A2	The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chromosome 1. This protein, thought to be localized in the golgi, catalyzes the NADPH-dependent reduction of succinic semialdehyde to the endogenous neuromodulator, gamma-hydroxybutyrate. It may also function as a detoxication enzyme in the reduction of aflatoxin B1 and 2-carboxybenzaldehyde. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
AKR7A2P1	chr1	112923423	112924337	+	ENSG00000229020.4	processed_pseudogene	AFARP1	1p13.2	AKR7A2 pseudogene 1	-
AKR7A3	chr1	19282558	19289250	-	ENSG00000162482.4	protein_coding	AFAR2	1p36.13	aldo-keto reductase family 7 member A3	Aldo-keto reductases, such as AKR7A3, are involved in the detoxification of aldehydes and ketones.[supplied by OMIM, Apr 2004]
AKR7L	chr1	19265982	19274194	-	ENSG00000211454.13	polymorphic_pseudogene	AFAR3|AFB1-AR 3|AFB1-AR3|AKR7A4	1p36.13|1p35-p36.1	aldo-keto reductase family 7 like (gene/pseudogene)	This gene is one of three aldo-keto reductase genes that are present in a cluster on the p arm of chromosome 1. The encoded proteins are involved in the reduction of the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. It has been speculated that this family member encodes a selenoprotein, which includes a selenocysteine (Sec) residue in lieu of a UGA translational termination codon. However, there is no evidence that such a protein is produced in vivo. The alternative interpretation is that this family member is a segregating pseudogene, where some individuals have an allele that encodes a functional enzyme, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Feb 2017]
AKT1	chr14	104769349	104795751	-	ENSG00000142208.15	protein_coding	AKT|PKB|PKB-ALPHA|PRKBA|RAC|RAC-ALPHA	14q32.33	AKT serine/threonine kinase 1	This gene encodes one of the three members of the human AKT serine-threonine protein kinase family which are often referred to as protein kinase B alpha, beta, and gamma. These highly similar AKT proteins all have an N-terminal pleckstrin homology domain, a serine/threonine-specific kinase domain and a C-terminal regulatory domain. These proteins are phosphorylated by phosphoinositide 3-kinase (PI3K). AKT/PI3K forms a key component of many signalling pathways that involve the binding of membrane-bound ligands such as receptor tyrosine kinases, G-protein coupled receptors, and integrin-linked kinase. These AKT proteins therefore regulate a wide variety of cellular functions including cell proliferation, survival, metabolism, and angiogenesis in both normal and malignant cells. AKT proteins are recruited to the cell membrane by phosphatidylinositol 3,4,5-trisphosphate (PIP3) after phosphorylation of phosphatidylinositol 4,5-bisphosphate (PIP2) by PI3K. Subsequent phosphorylation of both threonine residue 308 and serine residue 473 is required for full activation of the AKT1 protein encoded by this gene. Phosphorylation of additional residues also occurs, for example, in response to insulin growth factor-1 and epidermal growth factor. Protein phosphatases act as negative regulators of AKT proteins by dephosphorylating AKT or PIP3. The PI3K/AKT signalling pathway is crucial for tumor cell survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating AKT1 which then phosphorylates and inactivates components of the apoptotic machinery. AKT proteins also participate in the mammalian target of rapamycin (mTOR) signalling pathway which controls the assembly of the eukaryotic translation initiation factor 4F (eIF4E) complex and this pathway, in addition to responding to extracellular signals from growth factors and cytokines, is disregulated in many cancers. Mutations in this gene are associated with multiple types of cancer and excessive tissue growth including Proteus syndrome and Cowden syndrome 6, and breast, colorectal, and ovarian cancers. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2020]
AKT1S1	chr19	49869033	49878459	-	ENSG00000204673.10	protein_coding	Lobe|PRAS40	19q13.33	AKT1 substrate 1	AKT1S1 is a proline-rich substrate of AKT (MIM 164730) that binds 14-3-3 protein (see YWHAH, MIM 113508) when phosphorylated (Kovacina et al., 2003 [PubMed 12524439]).[supplied by OMIM, Mar 2008]
AKT2	chr19	40230317	40285536	-	ENSG00000105221.16	protein_coding	HIHGHH|PKBB|PKBBETA|PRKBB|RAC-BETA	19q13.2	AKT serine/threonine kinase 2	This gene is a putative oncogene encoding a protein belonging to a subfamily of serine/threonine kinases containing SH2-like (Src homology 2-like) domains, which is involved in signaling pathways. The gene serves as an oncogene in the tumorigenesis of cancer cells For example, its overexpression contributes to the malignant phenotype of a subset of human ductal pancreatic cancers. The encoded protein is a general protein kinase capable of phophorylating several known proteins, and has also been implicated in insulin signaling. [provided by RefSeq, Nov 2019]
AKT3	chr1	243488233	243851079	-	ENSG00000117020.16	protein_coding	MPPH|MPPH2|PKB-GAMMA|PKBG|PRKBG|RAC-PK-gamma|RAC-gamma|STK-2	1q43-q44	AKT serine/threonine kinase 3	The protein encoded by this gene is a member of the AKT, also called PKB,  serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
AKTIP	chr16	53491040	53504411	-	ENSG00000166971.16	protein_coding	FT1|FTS	16q12.2	AKT interacting protein	The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered patterns of programmed cell death. The protein encoded by this gene is similar to the ubiquitin ligase domain of other ubiquitin-conjugating enzymes but lacks the conserved cysteine residue that enables those enzymes to conjugate ubiquitin to the target protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing the phosphorylation of PKBs regulatory sites. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
AL022341.3	chr16	648473	649200	-	ENSG00000228201.1	antisense	-	-	-	-
AL022344.7	chr10	42751178	42752145	-	ENSG00000259869.1	lincRNA	-	-	-	-
AL022393.9	chr6	28170845	28172521	+	ENSG00000280107.1	TEC	-	-	-	-
AL022476.2	chr22	43038585	43052366	+	ENSG00000230319.1	antisense	-	-	-	-
AL049758.2	chr22	42853403	42853799	-	ENSG00000226989.1	processed_pseudogene	-	-	-	-
AL122127.25	chr14	105890084	105896577	+	ENSG00000244620.1	lincRNA	-	-	-	-
AL132709.1	chr14	101073869	101077910	-	ENSG00000230805.6	lincRNA	-	-	-	-
AL133243.1	chr2	32521927	32523547	+	ENSG00000276334.1	sense_intronic	-	-	-	-
AL133243.2	chr2	32526504	32529507	+	ENSG00000276517.1	sense_intronic	-	-	-	-
AL157902.3	chr1	117596832	117605770	-	ENSG00000236866.5	antisense	-	-	-	-
AL353997.3	chr17	18424321	18425097	+	ENSG00000279999.1	processed_transcript	-	-	-	-
AL450226.2	chr17	2232680	2233610	+	ENSG00000225084.1	antisense	-	-	-	-
AL450992.2	chr1	151841877	151850385	+	ENSG00000234614.1	antisense	-	-	-	-
AL591893.1	chr1	151994531	152042774	+	ENSG00000229021.2	antisense	-	-	-	-
AL592528.1	chr21	45827961	45836419	-	ENSG00000205424.1	antisense	-	-	-	-
AL928768.3	chr14	105703961	105704602	-	ENSG00000253701.2	lincRNA	-	-	-	-
ALAD	chr9	113386317	113401333	-	ENSG00000148218.15	protein_coding	ALADH|PBGS	9q32	aminolevulinate dehydratase	The ALAD enzyme is composed of 8 identical subunits and catalyzes the condensation of 2 molecules of delta-aminolevulinate to form porphobilinogen (a precursor of heme, cytochromes and other hemoproteins). ALAD catalyzes the second step in the porphyrin and heme biosynthetic pathway; zinc is essential for enzymatic activity. ALAD enzymatic activity is inhibited by lead and a defect in the ALAD structural gene can cause increased sensitivity to lead poisoning and acute hepatic porphyria. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
ALAS1	chr3	52198086	52214327	+	ENSG00000023330.14	protein_coding	ALAS|ALAS-H|ALAS3|ALASH|MIG4	3p21.2	5'-aminolevulinate synthase 1	This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
ALAS2	chrX	55009055	55031064	-	ENSG00000158578.18	protein_coding	ALAS-E|ALASE|ANH1|ASB|SIDBA1|XLDPP|XLEPP|XLSA	Xp11.21	5'-aminolevulinate synthase 2	The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
ALB	chr4	73397114	73421412	+	ENSG00000163631.16	protein_coding	FDAHT|HSA|PRO0883|PRO0903|PRO1341	4q13.3	albumin	This gene encodes the most abundant protein in human blood. This protein functions in the regulation of blood plasma colloid osmotic pressure and acts as a carrier protein for a wide range of endogenous molecules including hormones, fatty acids, and metabolites, as well as exogenous drugs. Additionally, this protein exhibits an esterase-like activity with broad substrate specificity. The encoded preproprotein is proteolytically processed to generate the mature protein. A peptide derived from this protein, EPI-X4, is an endogenous inhibitor of the CXCR4 chemokine receptor. [provided by RefSeq, Jul 2016]
ALCAM	chr3	105366909	105576900	+	ENSG00000170017.12	protein_coding	CD166|MEMD	3q13.11	activated leukocyte cell adhesion molecule	This gene encodes activated leukocyte cell adhesion molecule (ALCAM), also known as CD166 (cluster of differentiation 166), which is a member of a subfamily of immunoglobulin receptors with five immunoglobulin-like domains (VVC2C2C2) in the extracellular domain. This protein binds to T-cell differentiation antigene CD6, and is implicated in the processes of cell adhesion and migration. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2011]
ALDH16A1	chr19	49453169	49471048	+	ENSG00000161618.9	protein_coding	-	19q13.33	aldehyde dehydrogenase 16 family member A1	Ubiquitous expression in spleen (RPKM 10.1), duodenum (RPKM 6.6) and 25 other tissues
ALDH18A1	chr10	95605929	95656706	-	ENSG00000059573.8	protein_coding	ADCL3|ARCL3A|GSAS|P5CS|PYCS|SPG9|SPG9A|SPG9B	10q24.1	aldehyde dehydrogenase 18 family member A1	This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]
ALDH1A1	chr9	72900662	73080442	-	ENSG00000165092.12	protein_coding	ALDC|ALDH-E1|ALDH1|ALDH11|HEL-9|HEL-S-53e|HEL12|PUMB1|RALDH1	9q21.13	aldehyde dehydrogenase 1 family member A1	The protein encoded by this gene belongs to the aldehyde dehydrogenase family. Aldehyde dehydrogenase is the next enzyme after alcohol dehydrogenase in the major pathway of alcohol metabolism. There are two major aldehyde dehydrogenase isozymes in the liver, cytosolic and mitochondrial, which are encoded by distinct genes, and can be distinguished by their electrophoretic mobility, kinetic properties, and subcellular localization. This gene encodes the cytosolic isozyme. Studies in mice show that through its role in retinol metabolism, this gene may also be involved in the regulation of the metabolic responses to high-fat diet. [provided by RefSeq, Mar 2011]
ALDH1A2	chr15	57953424	58497866	-	ENSG00000128918.14	protein_coding	RALDH(II)|RALDH2|RALDH2-T	15q21.3	aldehyde dehydrogenase 1 family member A2	This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011]
ALDH1A3	chr15	100877714	100916626	+	ENSG00000184254.16	protein_coding	ALDH1A6|ALDH6|MCOP8|RALDH3	15q26.3	aldehyde dehydrogenase 1 family member A3	This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
ALDH1L1	chr3	126103562	126197994	-	ENSG00000144908.13	protein_coding	10-FTHFDH|10-fTHF|FDH|FTHFD	3q21.3	aldehyde dehydrogenase 1 family member L1	The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
ALDH1L1-AS1	chr3	126103640	126108069	+	ENSG00000250218.1	antisense	-	3q21.3	ALDH1L1 antisense RNA 1	-
ALDH1L1-AS2	chr3	126180065	126210169	+	ENSG00000246022.2	antisense	-	3q21.3	ALDH1L1 antisense RNA 2	-
ALDH1L2	chr12	105019784	105084577	-	ENSG00000136010.13	protein_coding	mtFDH	12q23.3	aldehyde dehydrogenase 1 family member L2	This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]
ALDH2	chr12	111766887	111817529	+	ENSG00000111275.12	protein_coding	ALDH-E2|ALDHI|ALDM	12q24.12	aldehyde dehydrogenase 2 family member	This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of East Asians have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Nov 2016]
ALDH3A1	chr17	19737984	19748943	-	ENSG00000108602.17	protein_coding	ALDH3|ALDHIII	17p11.2	aldehyde dehydrogenase 3 family member A1	Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]
ALDH3A2	chr17	19648136	19677598	+	ENSG00000072210.18	protein_coding	ALDH10|FALDH|SLS	17p11.2	aldehyde dehydrogenase 3 family member A2	Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ALDH3B1	chr11	68008578	68029282	+	ENSG00000006534.15	protein_coding	ALDH4|ALDH7	11q13.2	aldehyde dehydrogenase 3 family member B1	This gene encodes a member of the aldehyde dehydrogenase protein family. Aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The encoded protein is able to oxidize long-chain fatty aldehydes in vitro, and may play a role in protection from oxidative stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
ALDH3B2	chr11	67662162	67681200	-	ENSG00000132746.14	protein_coding	ALDH8	11q13.2	aldehyde dehydrogenase 3 family member B2	This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. Altered methylation patterns at this locus have been observed in spermatozoa derived from patients exhibiting reduced fecundity. [provided by RefSeq, Aug 2017]
ALDH4A1	chr1	18871430	18902781	-	ENSG00000159423.16	protein_coding	ALDH4|P5CD|P5CDh	1p36.13	aldehyde dehydrogenase 4 family member A1	This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]
ALDH5A1	chr6	24494852	24537207	+	ENSG00000112294.12	protein_coding	SSADH|SSDH	6p22.3	aldehyde dehydrogenase 5 family member A1	This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
ALDH6A1	chr14	74056850	74084493	-	ENSG00000119711.12	protein_coding	MMSADHA|MMSDH	14q24.3	aldehyde dehydrogenase 6 family member A1	This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
ALDH7A1	chr5	126531200	126595418	-	ENSG00000164904.17	protein_coding	ATQ1|EPD|PDE	5q23.2	aldehyde dehydrogenase 7 family member A1	The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011]
ALDH8A1	chr6	134917390	134950122	-	ENSG00000118514.13	protein_coding	ALDH12|DJ352A20.2	6q23.3	aldehyde dehydrogenase 8 family member A1	This gene encodes a member of the aldehyde dehydrogenase family of proteins. The encoded protein has been implicated in the synthesis of 9-cis-retinoic acid and in the breakdown of the amino acid tryptophan. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-trans-retinal. In addition, this enzyme has been shown to catalyze the conversion of 2-aminomuconic semialdehyde to 2-aminomuconate in the kynurenine pathway of tryptophan catabolism. [provided by RefSeq, Jul 2018]
ALDH9A1	chr1	165662216	165698863	-	ENSG00000143149.12	protein_coding	ALDH4|ALDH7|ALDH9|E3|TMABA-DH|TMABADH|TMABALDH	1q24.1	aldehyde dehydrogenase 9 family member A1	This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. [provided by RefSeq, Jul 2008]
ALDOA	chr16	30053090	30070457	+	ENSG00000149925.17	protein_coding	ALDA|GSD12|HEL-S-87p	16p11.2	aldolase, fructose-bisphosphate A	This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Mutations in this gene have been associated with Glycogen Storage Disease XII, an autosomal recessive disorder associated with hemolytic anemia. Disruption of this gene also plays a role in the progression of multiple types of cancers. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Sep 2017]
ALDOC	chr17	28573115	28577264	-	ENSG00000109107.13	protein_coding	ALDC	17q11.2	aldolase, fructose-bisphosphate C	This gene encodes a member of the class I fructose-biphosphate aldolase gene family. Expressed specifically in the hippocampus and Purkinje cells of the brain, the encoded protein is a glycolytic enzyme that catalyzes the reversible aldol cleavage of fructose-1,6-biphosphate and fructose 1-phosphate to dihydroxyacetone phosphate and either glyceraldehyde-3-phosphate or glyceraldehyde, respectively. [provided by RefSeq, Jul 2008]
ALG10	chr12	34022281	34029694	+	ENSG00000139133.6	protein_coding	ALG10A|DIE2|KCR1	12p11.1	ALG10 alpha-1,2-glucosyltransferase	This gene encodes a membrane-associated protein that adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. That is, it transfers the terminal glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc2Man9GlcNAc(2)-PP-Dol. The rat protein homolog was shown to specifically modulate the gating function of the rat neuronal ether-a-go-go (EAG) potassium ion channel. [provided by RefSeq, Jan 2010]
ALG10B	chr12	38316578	38329728	+	ENSG00000175548.8	protein_coding	ALG10|KCR1	12q12	ALG10 alpha-1,2-glucosyltransferase B	Ubiquitous expression in thyroid (RPKM 2.3), placenta (RPKM 2.2) and 25 other tissues
ALG11	chr13	52012398	52029664	+	ENSG00000253710.2	protein_coding	CDG1P|GT8	13q14.3	ALG11 alpha-1,2-mannosyltransferase	This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010]
ALG12	chr22	49900229	49918458	-	ENSG00000182858.13	protein_coding	CDG1G|ECM39|PP14673|hALG12	22q13.33	ALG12 alpha-1,6-mannosyltransferase	This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008]
ALG13	chrX	111665811	111760649	+	ENSG00000101901.11	protein_coding	CDG1S|CXorf45|DEE36|EIEE36|GLT28D1|MDS031|TDRD13|YGL047W	Xq23	ALG13 UDP-N-acetylglucosaminyltransferase subunit	The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
ALG1L	chr3	125929275	125937039	-	ENSG00000189366.9	protein_coding	ALG1L1	3q21.2	ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like	Low expression observed in reference dataset
ALG1L11P	chr8	12178697	12182719	+	ENSG00000249889.1	unprocessed_pseudogene	-	8p23.1	ALG1 like 11, pseudogene	-
ALG1L13P	chr8	8236003	8244667	-	ENSG00000253981.5	transcribed_unprocessed_pseudogene	-	8p23.1	ALG1 like 13, pseudogene	-
ALG1L9P	chr11	71794363	71818238	-	ENSG00000248671.7	processed_transcript	-	11q13.4	ALG1 like 9, pseudogene	-
ALG3	chr3	184242301	184249548	-	ENSG00000214160.9	protein_coding	CDG1D|CDGS4|CDGS6|D16Ertd36e|NOT56L|Not56|not	3q27.1	ALG3 alpha-1,3- mannosyltransferase	This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
ALG5	chr13	36949775	37000261	-	ENSG00000120697.8	protein_coding	bA421P11.2	13q13.3	ALG5 dolichyl-phosphate beta-glucosyltransferase	This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
ALG6	chr1	63367590	63438562	+	ENSG00000088035.15	protein_coding	CDG1C	1p31.3	ALG6 alpha-1,3-glucosyltransferase	This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008]
ALG8	chr11	78100936	78139660	-	ENSG00000159063.12	protein_coding	CDG1H|PCLD3	11q14.1	ALG8 alpha-1,3-glucosyltransferase	This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
ALG9	chr11	111782195	111871581	-	ENSG00000086848.14	protein_coding	CDG1L|DIBD1|GIKANIS|LOH11CR1J	11q23.1	ALG9 alpha-1,2-mannosyltransferase	This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
ALK	chr2	29192774	29921566	-	ENSG00000171094.16	protein_coding	ALK1|CD246|NBLST3	2p23.2-p23.1	ALK receptor tyrosine kinase	This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]
ALKAL1	chr8	52534037	52565507	-	ENSG00000196711.8	protein_coding	AUGA|AUGB|FAM150A|UNQ9433	8q11.23	ALK and LTK ligand 1	Biased expression in gall bladder (RPKM 1.3), thyroid (RPKM 1.1) and 7 other tissues
ALKAL2	chr2	279558	288851	-	ENSG00000189292.15	protein_coding	AUGA|FAM150B|PRO1097|RGPG542	2p25.3	ALK and LTK ligand 2	Biased expression in adrenal (RPKM 46.6), ovary (RPKM 14.2) and 6 other tissues
ALKBH2	chr12	109088188	109093631	-	ENSG00000189046.10	protein_coding	ABH2	12q24.11	alkB homolog 2, alpha-ketoglutarate dependent dioxygenase	The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 and ALKBH3 (MIM 610603) are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008]
ALKBH3	chr11	43880811	43920266	+	ENSG00000166199.12	protein_coding	ABH3|DEPC-1|DEPC1|PCA1|hABH3	11p11.2	alkB homolog 3, alpha-ketoglutarate dependent dioxygenase	The Escherichia coli AlkB protein protects against the cytotoxicity of methylating agents by repair of the specific DNA lesions generated in single-stranded DNA. ALKBH2 (MIM 610602) and ALKBH3 are E. coli AlkB homologs that catalyze the removal of 1-methyladenine and 3-methylcytosine (Duncan et al., 2002 [PubMed 12486230]).[supplied by OMIM, Mar 2008]
ALKBH4	chr7	102456238	102464876	-	ENSG00000160993.3	protein_coding	ABH4	7q22.1	alkB homolog 4, lysine demethylase	Ubiquitous expression in brain (RPKM 3.1), spleen (RPKM 3.0) and 25 other tissues
ALKBH5	chr17	18183078	18209954	+	ENSG00000091542.8	protein_coding	ABH5|OFOXD|OFOXD1	17p11.2|17p11.2	alkB homolog 5, RNA demethylase	Ubiquitous expression in testis (RPKM 46.1), heart (RPKM 30.6) and 25 other tissues
ALKBH6	chr19	36009120	36014239	-	ENSG00000239382.10	protein_coding	ABH6	19q13.12	alkB homolog 6	Ubiquitous expression in brain (RPKM 5.2), spleen (RPKM 4.9) and 25 other tissues
ALKBH7	chr19	6372433	6375251	+	ENSG00000125652.7	protein_coding	ABH7|SPATA11|UNQ6002	19p13.3	alkB homolog 7	Broad expression in testis (RPKM 38.0), kidney (RPKM 14.9) and 24 other tissues
ALKBH8	chr11	107502726	107565746	-	ENSG00000137760.14	protein_coding	ABH8|MRT71|TRM9|TRMT9|TRMT9A	11q22.3	alkB homolog 8, tRNA methyltransferase	Enables tRNA (uracil) methyltransferase activity; tRNA binding activity; and zinc ion binding activity. Involved in cellular response to DNA damage stimulus; tRNA methylation; and tRNA wobble uridine modification. Located in cytosol and nuclear body. Implicated in autosomal recessive non-syndromic intellectual disability. [provided by Alliance of Genome Resources, Apr 2022]
ALLC	chr2	3658195	3702671	+	ENSG00000151360.9	protein_coding	ALC	2p25.3	allantoicase	Allantoicase (EC 3.5.3.4) participates in the uric acid degradation pathway. Its enzymatic activity, like that of urate oxidase (MIM 191540), was lost during vertebrate evolution.[supplied by OMIM, Nov 2008]
ALMS1	chr2	73385758	73610793	+	ENSG00000116127.17	protein_coding	ALSS	2p13.1	ALMS1 centrosome and basal body associated protein	This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]
ALMS1-IT1	chr2	73456764	73459484	+	ENSG00000230002.2	sense_intronic	-	2p13.1	ALMS1 intronic transcript 1	-
ALMS1P1	chr2	73644919	73685576	+	ENSG00000163016.9	transcribed_unprocessed_pseudogene	ALMS1L|ALMS1P	2p13.1	ALMS1 pseudogene 1	Low expression observed in reference dataset
ALOX12	chr17	6996065	7010736	+	ENSG00000108839.11	protein_coding	12-LOX|12S-LOX|LOG12	17p13.1	arachidonate 12-lipoxygenase, 12S type	This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on different polyunsaturated fatty acid substrates to generate bioactive lipid mediators including eicosanoids and lipoxins. The encoded enzyme and its reaction products have been shown to regulate platelet function. Elevated expression of this gene has been observed in pancreatic islets derived from human diabetes patients. Allelic variants in this gene may be associated with susceptibility to toxoplasmosis. Multiple pseudogenes of this gene have been identified in the human genome. [provided by RefSeq, Aug 2017]
ALOX12-AS1	chr17	6876635	7012349	-	ENSG00000215067.9	antisense	-	17p13.1	ALOX12 antisense RNA 1	-
ALOX12B	chr17	8072636	8087703	-	ENSG00000179477.9	protein_coding	12R-LOX|ARCI2	17p13.1	arachidonate 12-lipoxygenase, 12R type	This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Sep 2015]
ALOX12P1	chr17	30529688	30542416	+	ENSG00000264958.2	unprocessed_pseudogene	ALOX12P	17q11.2	arachidonate 12-lipoxygenase pseudogene 1	-
ALOX15	chr17	4630902	4642294	-	ENSG00000161905.12	protein_coding	12-LOX|15-LOX|15-LOX-1|LOG15	17p13.2	arachidonate 15-lipoxygenase	This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on various polyunsaturated fatty acid substrates to generate various bioactive lipid mediators such as eicosanoids, hepoxilins, lipoxins, and other molecules. The encoded enzyme and its reaction products have been shown to regulate inflammation and immunity. Multiple pseudogenes of this gene have been identified in the human genome. [provided by RefSeq, Aug 2017]
ALOX15B	chr17	8039017	8049134	+	ENSG00000179593.15	protein_coding	15-LOX-2	17p13.1	arachidonate 15-lipoxygenase type B	This gene encodes a member of the lipoxygenase family of structurally related nonheme iron dioxygenases involved in the production of fatty acid hydroperoxides. The encoded protein converts arachidonic acid exclusively to 15S-hydroperoxyeicosatetraenoic acid, while metabolizing linoleic acid less effectively. This gene is located in a cluster of related genes and a pseudogene that spans approximately 100 kilobases on the short arm of chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
ALOX5	chr10	45374176	45446119	+	ENSG00000012779.10	protein_coding	5-LO|5-LOX|5LPG|LOG5	10q11.21	arachidonate 5-lipoxygenase	This gene encodes a member of the lipoxygenase gene family and plays a dual role in the synthesis of leukotrienes from arachidonic acid. The encoded protein, which is expressed specifically in bone marrow-derived cells, catalyzes the conversion of arachidonic acid to 5(S)-hydroperoxy-6-trans-8,11,14-cis-eicosatetraenoic acid, and further to the allylic epoxide 5(S)-trans-7,9-trans-11,14-cis-eicosatetrenoic acid (leukotriene A4). Leukotrienes are important mediators of a number of inflammatory and allergic conditions. Mutations in the promoter region of this gene lead to a diminished response to antileukotriene drugs used in the treatment of asthma and may also be associated with atherosclerosis and several cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
ALOX5AP	chr13	30713478	30764426	+	ENSG00000132965.9	protein_coding	FLAP	13q12.3	arachidonate 5-lipoxygenase activating protein	This gene encodes a protein which, with 5-lipoxygenase, is required for leukotriene synthesis. Leukotrienes are arachidonic acid metabolites which have been implicated in various types of inflammatory responses, including asthma, arthritis and psoriasis. This protein localizes to the plasma membrane. Inhibitors of its function impede translocation of 5-lipoxygenase from the cytoplasm to the cell membrane and inhibit 5-lipoxygenase activation. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]
ALOXE3	chr17	8095900	8119047	-	ENSG00000179148.9	protein_coding	ARCI3|E-LOX|eLOX-3|eLOX3	17p13.1	arachidonate lipoxygenase 3	This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trienoic acid) from 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE). This epoxy alcohol can activate the the nuclear receptor peroxisome proliferator-activated receptor alpha (PPARalpha), which is implicated in epidermal differentiation. Loss of function of the enzyme encoded by this gene results in ichthyosis, implicating the function of this gene in the differentiation of human skin. This gene is part of a cluster of lipoxygenase genes on 17p13.1. Mutations in this gene result in nonbullous congenital ichthyosiform erythroderma (NCIE). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
ALPG	chr2	 232406844	232410714	+	ENSG00000163286	protein-coding	ALPPL|ALPPL2|GCAP	2q37.1	alkaline phosphatase, germ cell	There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The product of this gene is a membrane bound glycosylated enzyme, localized to testis, thymus and certain germ cell tumors, that is closely related to both the placental and intestinal forms of alkaline phosphatase. [provided by RefSeq, Jul 2008]
ALPI	chr2	232456123	232460032	+	ENSG00000163295.4	protein_coding	IAP	2q37.1	alkaline phosphatase, intestinal	There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is a component of the gut mucosal defense system and is thought to function in the detoxification of lipopolysaccharide, and in the prevention of bacterial translocation in the gut. [provided by RefSeq, Dec 2014]
ALPK1	chr4	112285509	112442620	+	ENSG00000073331.17	protein_coding	8430410J10Rik|LAK|ROSAH	4q25	alpha kinase 1	This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
ALPK2	chr18	58481247	58628957	-	ENSG00000198796.6	protein_coding	HAK	18q21.31-q21.32	alpha kinase 2	Biased expression in heart (RPKM 9.8), lymph node (RPKM 2.0) and 4 other tissues
ALPK3	chr15	84816680	84873482	+	ENSG00000136383.6	protein_coding	CMH27|MAK|MIDORI	15q25.3	alpha kinase 3	Biased expression in heart (RPKM 20.7), fat (RPKM 9.4) and 9 other tissues
ALPL	chr1	21509372	21578412	+	ENSG00000162551.13	protein_coding	AP-TNAP|APTNAP|HOPS|HPPA|HPPC|HPPI|HPPO|TNALP|TNAP|TNSALP	1p36.12	alkaline phosphatase, biomineralization associated	This gene encodes a member of the alkaline phosphatase family of proteins. There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The first three are located together on chromosome 2, while the tissue non-specific form is located on chromosome 1. The product of this gene is a membrane bound glycosylated enzyme that is not expressed in any particular tissue and is, therefore, referred to as the tissue-nonspecific form of the enzyme. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme may play a role in bone mineralization. Mutations in this gene have been linked to hypophosphatasia, a disorder that is characterized by hypercalcemia and skeletal defects. [provided by RefSeq, Oct 2015]
ALPP	chr2	232378534	232382889	+	ENSG00000163283.6	protein_coding	ALP|ALPI|IAP|PALP|PLAP|PLAP-1	2q37.1	alkaline phosphatase, placental	The protein encoded by this gene is an alkaline phosphatase, a metalloenzyme that catalyzes the hydrolysis of phosphoric acid monoesters. It belongs to a multigene family composed of four alkaline phosphatase isoenzymes. The enzyme functions as a homodimer and has a catalytic site containing one magnesium and two zinc ions, which are required for its enzymatic function. One of the main sources of this enzyme is the liver, and thus, its one of several indicators of liver injury in different clinical conditions. In pregnant women, this protein is primarily expressed in placental and endometrial tissue, however, strong ectopic expression has been detected in ovarian adenocarcinoma, serous cystadenocarcinoma, and other ovarian cancer cells. [provided by RefSeq, Aug 2020]
ALS2	chr2	201700554	201781189	-	ENSG00000003393.14	protein_coding	ALS2CR6|ALSJ|IAHSP|PLSJ	2q33.1	alsin Rho guanine nucleotide exchange factor ALS2	The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
ALS2CL	chr3	46668997	46693704	-	ENSG00000178038.16	protein_coding	RN49018	3p21.31	ALS2 C-terminal like	Broad expression in skin (RPKM 30.9), esophagus (RPKM 10.4) and 18 other tissues
ALX3	chr1	110059994	110070700	-	ENSG00000156150.6	protein_coding	FND|FND1	1p13.3	ALX homeobox 3	This gene encodes a nuclear protein with a homeobox DNA-binding domain that functions as a transcriptional regulator involved in cell-type differentiation and development. Preferential methylation of this genes promoter is associated with advanced-stage neuroblastoma tumors. [provided by RefSeq, Jul 2008]
ALX4	chr11	44260444	44310166	-	ENSG00000052850.5	protein_coding	CRS5|FND2	11p11.2	ALX homeobox 4	This gene encodes a paired-like homeodomain transcription factor expressed in the mesenchyme of developing bones, limbs, hair, teeth, and mammary tissue. Mutations in this gene cause parietal foramina 2 (PFM2); an autosomal dominant disease characterized by deficient ossification of the parietal bones. Mutations in this gene also cause a form of frontonasal dysplasia with alopecia and hypogonadism; suggesting a role for this gene in craniofacial development, mesenchymal-epithelial communication, and hair follicle development. Deletion of a segment of chromosome 11 containing this gene, del(11)(p11p12), causes Potocki-Shaffer syndrome (PSS); a syndrome characterized by craniofacial anomalies, cognitive disability, multiple exostoses, and genital abnormalities in males. In mouse, this gene has been shown to use dual translation initiation sites located 16 codons apart. [provided by RefSeq, Oct 2009]
ALYREF	chr17	81887844	81891586	-	ENSG00000183684.7	protein_coding	ALY|ALY/REF|BEF|REF|THOC4	17q25.3	Aly/REF export factor	The protein encoded by this gene is a heat stable, nuclear protein and functions as a molecular chaperone. It is thought to regulate dimerization, DNA binding, and transcriptional activity of basic region-leucine zipper (bZIP) proteins. [provided by RefSeq, Jul 2008]
AMACR	chr5	33986178	34008108	-	ENSG00000242110.7	protein_coding	AMACRD|CBAS4|P504S|RACE|RM	5p13.2	alpha-methylacyl-CoA racemase	This gene encodes a racemase. The encoded enzyme interconverts pristanoyl-CoA and C27-bile acylCoAs between their (R)- and (S)-stereoisomers. The conversion to the (S)-stereoisomers is necessary for degradation of these substrates by peroxisomal beta-oxidation. Encoded proteins from this locus localize to both mitochondria and peroxisomes. Mutations in this gene may be associated with adult-onset sensorimotor neuropathy, pigmentary retinopathy, and adrenomyeloneuropathy due to defects in bile acid synthesis. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the upstream neighboring C1QTNF3 (C1q and tumor necrosis factor related protein 3) gene. [provided by RefSeq, Mar 2011]
AMBRA1	chr11	46396414	46594125	-	ENSG00000110497.14	protein_coding	DCAF3|WDR94	11p11.2	autophagy and beclin 1 regulator 1	Ubiquitous expression in testis (RPKM 5.9), brain (RPKM 5.4) and 25 other tissues
AMD1	chr6	110874770	110895713	+	ENSG00000123505.15	protein_coding	ADOMETDC|AMD|SAMDC	6q21	adenosylmethionine decarboxylase 1	This gene encodes an important intermediate enzyme in polyamine biosynthesis. The polyamines spermine, spermidine, and putrescine are low-molecular-weight aliphatic amines essential for cellular proliferation and tumor promotion. Multiple alternatively spliced transcript variants have been identified. Pseudogenes of this gene are found on chromosomes 5, 6, 10, X and Y. [provided by RefSeq, Dec 2013]
AMDHD1	chr12	95943293	95968716	+	ENSG00000139344.7	protein_coding	HMFT1272	12q23.1	amidohydrolase domain containing 1	Biased expression in liver (RPKM 25.7), adrenal (RPKM 6.0) and 1 other tissue
AMDHD2	chr16	2520357	2531422	+	ENSG00000162066.14	protein_coding	CGI-14	16p13.3	amidohydrolase domain containing 2	Ubiquitous expression in spleen (RPKM 8.7), kidney (RPKM 8.5) and 25 other tissues
AMFR	chr16	56361452	56425538	-	ENSG00000159461.14	protein_coding	GP78|RNF45	16q13	autocrine motility factor receptor	This locus encodes a glycosylated transmembrane receptor. Its ligand, autocrine motility factor, is a tumor motility-stimulating protein secreted by tumor cells. The encoded receptor is also a member of the E3 ubiquitin ligase family of proteins. It catalyzes ubiquitination and endoplasmic reticulum-associated degradation of specific proteins. [provided by RefSeq, Feb 2012]
AMH	chr19	2249309	2252073	+	ENSG00000104899.7	protein_coding	MIF|MIS	19p13.3	anti-Mullerian hormone	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate N- and C-terminal cleavage products that homodimerize and associate to form a biologically active noncovalent complex. This complex binds to the anti-Mullerian hormone receptor type 2 and causes the regression of Mullerian ducts in the male embryo that would otherwise differentiate into the uterus and fallopian tubes. This protein also plays a role in Leydig cell differentiation and function and follicular development in adult females. Mutations in this gene result in persistent Mullerian duct syndrome. [provided by RefSeq, Jul 2016]
AMHR2	chr12	53423855	53431534	+	ENSG00000135409.10	protein_coding	AMHR|MISR2|MISRII|MRII	12q13.13	anti-Mullerian hormone receptor type 2	This gene encodes the receptor for the anti-Mullerian hormone (AMH) which, in addition to testosterone, results in male sex differentiation. AMH and testosterone are produced in the testes by different cells and have different effects. Testosterone promotes the development of male genitalia while the binding of AMH to the encoded receptor prevents the development of the mullerian ducts into uterus and Fallopian tubes. Mutations in this gene are associated with persistent Mullerian duct syndrome type II. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2009]
AMIGO1	chr1	109504175	109509738	-	ENSG00000181754.6	protein_coding	ALI2|AMIGO|AMIGO-1	1p13.3	adhesion molecule with Ig like domain 1	Ubiquitous expression in brain (RPKM 9.3), adrenal (RPKM 6.7) and 24 other tissues
AMIGO2	chr12	47075707	47079951	-	ENSG00000139211.6	protein_coding	ALI1|AMIGO-2|DEGA	12q13.11	adhesion molecule with Ig like domain 2	Broad expression in gall bladder (RPKM 9.4), urinary bladder (RPKM 8.8) and 23 other tissues
AMIGO3	chr3	49716834	49719695	-	ENSG00000176020.8	protein_coding	ALI3|AMIGO-3	3p21.31	adhesion molecule with Ig like domain 3	-
AMMECR1L	chr2	127861630	127885922	-	ENSG00000144233.9	protein_coding	-	2q14.3	AMMECR1 like	-
AMN	chr14	102922656	102933596	+	ENSG00000166126.10	protein_coding	IGS2|PRO1028|amnionless	14q32.32	amnion associated transmembrane protein	The protein encoded by this gene is a type I transmembrane protein. It is thought to modulate bone morphogenetic protein (BMP) receptor function by serving as an accessory or coreceptor, and thus facilitates or hinders BMP binding. It is known that the mouse AMN gene is expressed in the extraembryonic visceral endoderm layer during gastrulation, but it is found to be mutated in amnionless mouse. The encoded protein has sequence similarity to short gastrulation (Sog) and procollagen IIA proteins in Drosophila. [provided by RefSeq, Jul 2008]
AMOTL1	chr11	94706431	94876753	+	ENSG00000166025.17	protein_coding	JEAP	11q21	angiomotin like 1	The protein encoded by this gene is a peripheral membrane protein that is a component of tight junctions or TJs. TJs form an apical junctional structure and act to control paracellular permeability and maintain cell polarity. This protein is related to angiomotin, an angiostatin binding protein that regulates endothelial cell migration and capillary formation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
AMOTL2	chr3	134355874	134375479	-	ENSG00000114019.14	protein_coding	LCCP	3q22.2	angiomotin like 2	Angiomotin is a protein that binds angiostatin, a circulating inhibitor of the formation of new blood vessels (angiogenesis). Angiomotin mediates angiostatin inhibition of endothelial cell migration and tube formation in vitro. The protein encoded by this gene is related to angiomotin and is a member of the motin protein family. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
AMPD2	chr1	109616104	109632051	+	ENSG00000116337.15	protein_coding	PCH9|SPG63	1p13.3	adenosine monophosphate deaminase 2	The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
AMPD3	chr11	10308313	10507579	+	ENSG00000133805.15	protein_coding	-	11p15.4	adenosine monophosphate deaminase 3	Broad expression in bone marrow (RPKM 15.7), appendix (RPKM 8.4) and 22 other tissues
AMPH	chr7	38383704	38631567	-	ENSG00000078053.16	protein_coding	AMPH1	7p14.1	amphiphysin	This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man syndrome who were also affected by breast cancer are positive for autoantibodies against this protein. Alternate splicing of this gene results in two transcript variants encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010]
AMT	chr3	49416775	49422753	-	ENSG00000145020.15	protein_coding	GCE|GCST|GCVT|NKH	3p21.31	aminomethyltransferase	This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
AMY1B	chr1	103687415	103696680	-	ENSG00000174876.16	protein_coding	AMY1	1p21.1	amylase alpha 1B	Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the salivary gland. [provided by RefSeq, Jul 2008]
AMY2A	chr1	103616811	103625780	+	ENSG00000243480.7	protein_coding	AMY2|PA	1p21.1	amylase alpha 2A	This gene encodes a member of the alpha-amylase family of proteins. Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, catalyzing the first step in digestion of dietary starch and glycogen. This gene and several family members are present in a gene cluster on chromosome 1. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jan 2015]
AMZ1	chr7	2679522	2775500	+	ENSG00000174945.13	protein_coding	-	7p22.3	archaelysin family metallopeptidase 1	-
AMZ2	chr17	68247574	68257164	+	ENSG00000196704.11	protein_coding	-	17q24.2	archaelysin family metallopeptidase 2	Broad expression in testis (RPKM 44.9), brain (RPKM 18.1) and 25 other tissues
ANAPC1	chr2	111766271	111884690	-	ENSG00000153107.11	protein_coding	APC1|MCPR|TSG24	2q13	anaphase promoting complex subunit 1	This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [provided by RefSeq, Dec 2011]
ANAPC10	chr4	144967112	145098541	-	ENSG00000164162.12	protein_coding	APC10|DOC1	4q31.21	anaphase promoting complex subunit 10	ANAPC10 is a core subunit of the anaphase-promoting complex (APC), or cyclosome, a ubiquitin protein ligase that is essential for progression through the cell cycle. APC initiates sister chromatid separation by ubiquitinating the anaphase inhibitor securin (PTTG1; MIM 604147) and triggers exit from mitosis by ubiquitinating cyclin B (CCNB1; MIM 123836), the activating subunit of cyclin-dependent kinase-1 (CDK1; MIM 116940) (summary by Wendt et al., 2001 [PubMed 11524682]).[supplied by OMIM, Feb 2011]
ANAPC11	chr17	81890790	81900991	+	ENSG00000141552.17	protein_coding	APC11|Apc11p|HSPC214	17q25.3	anaphase promoting complex subunit 11	Ubiquitous expression in testis (RPKM 15.1), heart (RPKM 13.6) and 25 other tissues
ANAPC13	chr3	134477706	134486716	-	ENSG00000129055.12	protein_coding	APC13|SWM1	3q22.2	anaphase promoting complex subunit 13	This gene encodes a component of the anaphase promoting complex, a large ubiquitin-protein ligase that controls cell cycle progression by regulating the degradation of cell cycle regulators such as B-type cyclins. The encoded protein is evolutionarily conserved and is required for the integrity and ubiquitin ligase activity of the anaphase promoting complex. Pseudogenes and splice variants have been found for this gene; however, the biological validity of some of the splice variants has not been determined. [provided by RefSeq, Nov 2008]
ANAPC15	chr11	72106378	72112780	-	ENSG00000110200.8	protein_coding	APC15|C11orf51|HSPC020	11q13.4	anaphase promoting complex subunit 15	Ubiquitous expression in bone marrow (RPKM 6.8), testis (RPKM 5.8) and 25 other tissues
ANAPC16	chr10	72216000	72235860	+	ENSG00000166295.8	protein_coding	APC16|C10orf104|CENP-27|MSAG|bA570G20.3	10q22.1	anaphase promoting complex subunit 16	Ubiquitous expression in heart (RPKM 31.6), thyroid (RPKM 26.9) and 25 other tissues
ANAPC2	chr9	137174784	137188549	-	ENSG00000176248.8	protein_coding	APC2	9q34.3	anaphase promoting complex subunit 2	A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The product of this gene is a component of the complex and shares sequence similarity with a recently identified family of proteins called cullins, which may also be involved in ubiquitin-mediated degradation. [provided by RefSeq, Jul 2008]
ANAPC4	chr4	25377213	25418498	+	ENSG00000053900.10	protein_coding	APC4	4p15.2	anaphase promoting complex subunit 4	A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
ANAPC5	chr12	121308245	121399896	-	ENSG00000089053.12	protein_coding	APC5	12q24.31	anaphase promoting complex subunit 5	This gene encodes a tetratricopeptide repeat-containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for the proper ubiquitination function of APC/C and for the interaction of APC/C with transcription coactivators. It also interacts with polyA binding protein and represses internal ribosome entry site-mediated translation. Multiple transcript variants encoding different isoforms have been found for this gene. These differences cause translation initiation at a downstream AUG and result in a shorter protein (isoform b), compared to isoform a. [provided by RefSeq, Nov 2008]
ANAPC7	chr12	110372900	110403730	-	ENSG00000196510.12	protein_coding	APC7	12q24.11	anaphase promoting complex subunit 7	This gene encodes a tetratricopeptide repeat containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for proper protein ubiquitination function of APC/C and for the interaction of APC/C with certain transcription coactivators. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
ANGEL1	chr14	76786178	76826246	-	ENSG00000013523.9	protein_coding	Ccr4e|KIAA0759	14q24.3	angel homolog 1	Broad expression in testis (RPKM 25.2), spleen (RPKM 10.7) and 25 other tissues
ANGEL2	chr1	212992182	213015826	-	ENSG00000174606.13	protein_coding	Ccr4d|KIAA0759L	1q32.3	angel homolog 2	Ubiquitous expression in brain (RPKM 5.6), lymph node (RPKM 5.1) and 25 other tissues
ANGPT1	chr8	107249482	107498055	-	ENSG00000154188.9	protein_coding	AGP1|AGPT|ANG1|HAE5	8q23.1	angiopoietin 1	This gene encodes a secreted glycoprotein that belongs to the angiopoietin family. Members of this family play important roles in vascular development and angiogenesis. All angiopoietins bind with similar affinity to an endothelial cell-specific tyrosine-protein kinase receptor. The protein encoded by this gene is a secreted glycoprotein that activates the receptor by inducing its tyrosine phosphorylation. It plays a critical role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme and inhibits endothelial permeability. The protein also contributes to blood vessel maturation and stability, and may be involved in early development of the heart. Mutations in this gene are associated with hereditary angioedema. [provided by RefSeq, Aug 2020]
ANGPT2	chr8	6499651	6563409	-	ENSG00000091879.13	protein_coding	AGPT2|ANG2|LMPHM10	8p23.1	angiopoietin 2	This gene belongs to the angiopoietin family of growth factors. The protein encoded by this gene is an antagonist of angiopoietin 1, and both angiopoietin 1 and angiopoietin 2 are ligands for the endothelial TEK receptor tyrosine kinase. Angiopoietin 2 is upregulated in multiple inflammatory diseases and is implicated in the direct control of inflammation-related signaling pathways. The encoded protein affects angiogenesis during embryogenesis and tumorigenesis, disrupts the vascular remodeling ability of angiopoietin 1, and may induce endothelial cell apoptosis. This gene serves a prognostic biomarker for acute respiratory distress syndrome. [provided by RefSeq, Aug 2020]
ANGPTL1	chr1	178849705	178871052	-	ENSG00000116194.12	protein_coding	ANG3|ANGPT3|ARP1|AngY|UNQ162|dJ595C2.2	1q25.2	angiopoietin like 1	Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. The protein encoded by this gene is another member of the angiopoietin family that is widely expressed in adult tissues with mRNA levels highest in highly vascularized tissues. This protein was found to be a secretory protein that does not act as an endothelial cell mitogen in vitro. [provided by RefSeq, Jul 2008]
ANGPTL2	chr9	127087332	127122883	-	ENSG00000136859.9	protein_coding	ARP2|HARP	9q33.3	angiopoietin like 2	Angiopoietins are members of the vascular endothelial growth factor family and the only known growth factors largely specific for vascular endothelium. Angiopoietin-1, angiopoietin-2, and angiopoietin-4 participate in the formation of blood vessels. ANGPTL2 protein is a secreted glycoprotein with homology to the angiopoietins and may exert a function on endothelial cells through autocrine or paracrine action. [provided by RefSeq, Jul 2008]
ANGPTL3	chr1	62597487	62606159	+	ENSG00000132855.4	protein_coding	ANG-5|ANGPT5|ANL3|FHBL2	1p31.3	angiopoietin like 3	This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain and a C-terminal fibrinogen chain. The N-terminal chain is important for lipid metabolism, while the C-terminal chain may be involved in angiogenesis. Mutations in this gene cause familial hypobetalipoproteinemia type 2. [provided by RefSeq, Aug 2015]
ANGPTL4	chr19	8363289	8374373	+	ENSG00000167772.11	protein_coding	ARP4|FIAF|HARP|HFARP|NL2|PGAR|TGQTL|UNQ171|pp1158	19p13.2	angiopoietin like 4	This gene encodes a glycosylated, secreted protein containing a C-terminal fibrinogen domain. The encoded protein is induced by peroxisome proliferation activators and functions as a serum hormone that regulates glucose homeostasis, lipid metabolism, and insulin sensitivity. This protein can also act as an apoptosis survival factor for vascular endothelial cells and can prevent metastasis by inhibiting vascular growth and tumor cell invasion. The C-terminal domain may be proteolytically-cleaved from the full-length secreted protein. Decreased expression of this gene has been associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. This gene was previously referred to as ANGPTL2 but has been renamed ANGPTL4. [provided by RefSeq, Sep 2013]
ANGPTL5	chr11	101890674	101916522	-	ENSG00000187151.7	protein_coding	-	11q22.1	angiopoietin like 5	-
ANGPTL6	chr19	10092338	10102796	-	ENSG00000130812.10	protein_coding	AGF|ARP5	19p13.2	angiopoietin like 6	Ubiquitous expression in liver (RPKM 8.2), spleen (RPKM 5.1) and 25 other tissues
ANGPTL7	chr1	11189341	11195981	+	ENSG00000171819.4	protein_coding	AngX|CDT6|dJ647M16.1	1p36.22	angiopoietin like 7	Broad expression in heart (RPKM 2.5), gall bladder (RPKM 2.2) and 15 other tissues
ANGPTL8	chr19	11237450	11241943	+	ENSG00000130173.13	protein_coding	C19orf80|PRO1185|PVPA599|RIFL|TD26	19p13.2	angiopoietin like 8	Biased expression in liver (RPKM 32.5) and fat (RPKM 10.2)
ANK1	chr8	41653220	41896762	-	ENSG00000029534.19	protein_coding	ANK|SPH1|SPH2	8p11.21	ankyrin 1	Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]
ANK2	chr4	112818109	113383740	+	ENSG00000145362.17	protein_coding	ANK-2|CFAP87|FAP87|LQT4|brank-2	4q25-q26	ankyrin 2	This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011]
ANK3	chr10	60026298	60733490	-	ENSG00000151150.21	protein_coding	ANKYRIN-G|MRT37	10q21.2	ankyrin 3	Ankyrins are a family of proteins that are believed to link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact, and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
ANKDD1A	chr15	64911902	64958700	+	ENSG00000166839.16	protein_coding	-	15q22.31	ankyrin repeat and death domain containing 1A	-
ANKDD1B	chr5	75611459	75671846	+	ENSG00000189045.13	protein_coding	-	5q13.3	ankyrin repeat and death domain containing 1B	-
ANKEF1	chr20	9986126	10058303	+	ENSG00000132623.15	protein_coding	ANKRD5	20p12.2	ankyrin repeat and EF-hand domain containing 1	Broad expression in testis (RPKM 13.1), thyroid (RPKM 4.5) and 19 other tissues
ANKFN1	chr17	55882301	56511659	+	ENSG00000153930.11	protein_coding	-	17q22	ankyrin repeat and fibronectin type III domain containing 1	-
ANKFY1	chr17	4163907	4263977	-	ENSG00000185722.16	protein_coding	ANKHZN|BTBD23|ZFYVE14	17p13.2	ankyrin repeat and FYVE domain containing 1	This gene encodes a cytoplasmic protein that contains a coiled-coil structure and a BTB/POZ domain at its N-terminus, ankyrin repeats in the middle portion, and a FYVE-finger motif at its C-terminus. This protein belongs to a subgroup of double zinc finger proteins which may be involved in vesicle or protein transport. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Apr 2012]
ANKH	chr5	14704804	14871778	-	ENSG00000154122.12	protein_coding	ANK|CCAL2|CMDJ|CPPDD|HANK|MANK|SLC62A1	5p15.2	ANKH inorganic pyrophosphate transport regulator	This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]
ANKHD1	chr5	140401814	140539856	+	ENSG00000131503.20	protein_coding	MASK|MASK1|PP2500|VBARP	5q31.3	ankyrin repeat and KH domain containing 1	This gene encodes a protein with multiple ankyrin repeat domains and a single KH-domain. The protein is thought to function as a scaffolding protein, and it may be involved in the regulation of caspases and thereby play an antiapoptotic role in cell survival. Alternative splicing results in multiple transcript variants, one of which generates a fusion transcript (MASK-BP3) with the downstream eIF4E-binding protein 3 (EIF4EBP3) gene, resulting in a protein comprised of the ANKHD1 sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Sep 2010]
ANKHD1-EIF4EBP3	chr5	140401908	140549569	+	ENSG00000254996.5	protein_coding	MASK-BP3|MASK-BP3ARF	5q31.3	ANKHD1-EIF4EBP3 readthrough	The ANKHD1-EIF4EBP3 mRNA is an infrequent but naturally occurring readthrough transcript of the neighboring ANKHD1 and EIF4EBP3 genes. This readthrough transcript encodes a protein composed mostly of the multiple ankyrin repeats, single KH-domain protein, with its C-terminus encoded in a different reading frame from the shared portion of the EIF4EBP3 gene. The significance of this readthrough mRNA and the function of its protein product have not yet been determined. [provided by RefSeq, Nov 2009]
ANKIB1	chr7	92246234	92401384	+	ENSG00000001629.9	protein_coding	-	7q21.2	ankyrin repeat and IBR domain containing 1	-
ANKK1	chr11	113387791	113400418	+	ENSG00000170209.4	protein_coding	PKK2|sgK288	11q23.2	ankyrin repeat and kinase domain containing 1	The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]
ANKLE1	chr19	17281645	17287646	+	ENSG00000160117.14	protein_coding	ANKRD41|LEM3|LEMD6	19p13.11	ankyrin repeat and LEM domain containing 1	Biased expression in bone marrow (RPKM 8.2), lymph node (RPKM 1.3) and 2 other tissues
ANKLE2	chr12	132725503	132761888	-	ENSG00000176915.14	protein_coding	KIAA0692|LEMD7|Lem4|MCPH16	12q24.33	ankyrin repeat and LEM domain containing 2	This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]
ANKMY1	chr2	240479422	240569209	-	ENSG00000144504.15	protein_coding	ZMYND13	2q37.3	ankyrin repeat and MYND domain containing 1	Broad expression in testis (RPKM 7.0), spleen (RPKM 1.2) and 21 other tissues
ANKMY2	chr7	16599776	16645817	-	ENSG00000106524.8	protein_coding	ZMYND20	7p21.1	ankyrin repeat and MYND domain containing 2	Ubiquitous expression in heart (RPKM 13.9), thyroid (RPKM 13.4) and 25 other tissues
ANKRA2	chr5	73552335	73565686	-	ENSG00000164331.9	protein_coding	ANKRA	5q13.2	ankyrin repeat family A member 2	Ubiquitous expression in thyroid (RPKM 11.0), endometrium (RPKM 9.3) and 25 other tissues
ANKRD1	chr10	90912096	90921276	-	ENSG00000148677.6	protein_coding	ALRP|C-193|CARP|CVARP|MCARP|bA320F15.2	10q23.31	ankyrin repeat domain 1	The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]
ANKRD10	chr13	110878540	110915069	-	ENSG00000088448.14	protein_coding	-	13q34	ankyrin repeat domain 10	-
ANKRD11	chr16	89267627	89490561	-	ENSG00000167522.14	protein_coding	ANCO-1|ANCO1|LZ16|T13	16q24.3	ankyrin repeat domain 11	This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012]
ANKRD12	chr18	9136228	9285985	+	ENSG00000101745.16	protein_coding	ANCO-2|ANCO1|GAC-1|Nbla00144	18p11.22	ankyrin repeat domain 12	This gene encodes a member of the ankyrin repeats-containing cofactor family. These proteins may inhibit the transcriptional activity of nuclear receptors through the recruitment of histone deacetylases. The encoded protein interacts with p160 coactivators and also represses transcription mediated by the coactivator alteration/deficiency in activation 3 (ADA3). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
ANKRD13A	chr12	109999186	110039763	+	ENSG00000076513.16	protein_coding	ANKRD13|NY-REN-25	12q24.11	ankyrin repeat domain 13A	Broad expression in testis (RPKM 37.6), lymph node (RPKM 31.1) and 24 other tissues
ANKRD13B	chr17	29589769	29614761	+	ENSG00000198720.12	protein_coding	-	17q11.2	ankyrin repeat domain 13B	-
ANKRD13D	chr11	67288547	67302485	+	ENSG00000172932.14	protein_coding	-	11q13.2	ankyrin repeat domain 13D	Broad expression in bone marrow (RPKM 36.3), spleen (RPKM 13.6) and 23 other tissues
ANKRD16	chr10	5861617	5889906	-	ENSG00000134461.15	protein_coding	-	10p15.1	ankyrin repeat domain 16	Ubiquitous expression in testis (RPKM 3.6), ovary (RPKM 2.9) and 25 other tissues
ANKRD17	chr4	73073376	73258798	-	ENSG00000132466.18	protein_coding	CAGS|GTAR|MASK2|NY-BR-16	4q13.3	ankyrin repeat domain 17	The protein encoded by this gene belongs to the family of ankyrin repeat-containing proteins, and contains two distinct arrays of ankyrin repeats in its amino-terminal region, one with 15 ankyrin repeats, and the other with 10 ankyrin repeats. It also contains a nuclear export signal, nuclear localization signal, and a cyclin-binding RXL motif. Localization of this protein to the nucleus has been shown experimentally, and interactions between this protein and cyclin-dependent kinase 2 have been observed. It has been suggested that this protein plays a role in both DNA replication and in both anti-viral and anti-bacterial innate immune pathways. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
ANKRD18CP	chr9	97156570	97221235	-	ENSG00000159712.10	unprocessed_pseudogene	-	9q22.33	ankyrin repeat domain 18C, pseudogene	-
ANKRD18EP	chr6	39110321	39112952	+	ENSG00000217165.1	processed_pseudogene	-	6p21.2	ankyrin repeat domain 18E, pseudogene	-
ANKRD19P	chr9	92809388	92888693	+	ENSG00000187984.12	transcribed_unprocessed_pseudogene	ANKRD19|bA526D8.2	9q22.31	ankyrin repeat domain 19, pseudogene	Broad expression in testis (RPKM 16.5), brain (RPKM 2.4) and 15 other tissues
ANKRD2	chr10	97572499	97583884	+	ENSG00000165887.11	protein_coding	ARPP	10q24.2	ankyrin repeat domain 2	This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
ANKRD20A1	chr9	67859147	67902094	+	ENSG00000260691.5	protein_coding	ANKRD20A	9q21.11	ankyrin repeat domain 20 family member A1	Broad expression in testis (RPKM 5.3), lung (RPKM 0.9) and 14 other tissues
ANKRD20A21P	chr20	30656033	30723932	-	ENSG00000277112.3	transcribed_unprocessed_pseudogene	-	20q11.21	ankyrin repeat domain 20 family member A21, pseudogene	-
ANKRD20A8P	chr2	94811046	94857282	-	ENSG00000229089.6	transcribed_unprocessed_pseudogene	ANKRD20B	2q11.1	ankyrin repeat domain 20 family member A8, pseudogene	Biased expression in testis (RPKM 4.0), thyroid (RPKM 2.5) and 6 other tissues
ANKRD22	chr10	88822132	88851818	-	ENSG00000152766.5	protein_coding	-	10q23.31	ankyrin repeat domain 22	-
ANKRD23	chr2	96824526	96857934	-	ENSG00000163126.14	protein_coding	DARP|MARP3	2q11.2	ankyrin repeat domain 23	This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation. [provided by RefSeq, Jul 2008]
ANKRD24	chr19	4183354	4224814	+	ENSG00000089847.12	protein_coding	-	19p13.3	ankyrin repeat domain 24	-
ANKRD26	chr10	26991914	27100498	-	ENSG00000107890.16	protein_coding	THC2|bA145E8.1	10p12.1	ankyrin repeat domain 26	This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
ANKRD26P4	chr13	31311289	31312921	+	ENSG00000229427.1	processed_pseudogene	-	13q12.3	ankyrin repeat domain 26 pseudogene 4	-
ANKRD27	chr19	32597007	32676597	-	ENSG00000105186.15	protein_coding	PP12899|VARP	19q13.11	ankyrin repeat domain 27	Ubiquitous expression in testis (RPKM 13.4), thyroid (RPKM 8.9) and 25 other tissues
ANKRD28	chr3	15667236	15859771	-	ENSG00000206560.11	protein_coding	CFAP79|FAP79|PITK|PPP1R65	3p25.1	ankyrin repeat domain 28	Ubiquitous expression in bone marrow (RPKM 14.3), testis (RPKM 10.7) and 25 other tissues
ANKRD29	chr18	23598926	23662885	-	ENSG00000154065.16	protein_coding	-	18q11.2	ankyrin repeat domain 29	-
ANKRD30BL	chr2	132147591	132257969	-	ENSG00000163046.15	protein_coding	ANKRD30BP3|NCRNA00164	2q21.2	ankyrin repeat domain 30B like	Restricted expression toward testis (RPKM 7.1)
ANKRD30BP3	chr10	45156775	45176925	+	ENSG00000230501.1	unprocessed_pseudogene	-	10q11.21	ankyrin repeat domain 30B pseudogene 3	-
ANKRD31	chr5	75068275	75236878	-	ENSG00000145700.9	protein_coding	-	5q13.3	ankyrin repeat domain 31	Biased expression in testis (RPKM 3.8) and esophagus (RPKM 0.4)
ANKRD33B	chr5	10564330	10657816	+	ENSG00000164236.11	protein_coding	-	5p15.2	ankyrin repeat domain 33B	-
ANKRD34A	chr1	145959442	145964582	-	ENSG00000272031.2	protein_coding	ANKRD34	1q21.1	ankyrin repeat domain 34A	Biased expression in brain (RPKM 4.5), prostate (RPKM 0.7) and 13 other tissues
ANKRD35	chr1	145866560	145885866	-	ENSG00000198483.12	protein_coding	-	1q21.1	ankyrin repeat domain 35	-
ANKRD36	chr2	97113496	97264521	+	ENSG00000135976.17	protein_coding	UNQ2430	2q11.2	ankyrin repeat domain 36	Broad expression in bone marrow (RPKM 5.4), testis (RPKM 4.4) and 24 other tissues
ANKRD36B	chr2	97492663	97589965	-	ENSG00000196912.12	protein_coding	KIAA1641	2q11.2	ankyrin repeat domain 36B	Ubiquitous expression in bone marrow (RPKM 3.8), testis (RPKM 3.0) and 24 other tissues
ANKRD36BP2	chr2	88765807	88806612	+	ENSG00000230006.7	transcribed_unprocessed_pseudogene	-	2p11.2	ankyrin repeat domain 36B pseudogene 2	-
ANKRD36C	chr2	95836919	95991831	-	ENSG00000174501.14	protein_coding	-	2q11.1	ankyrin repeat domain 36C	-
ANKRD37	chr4	185396021	185400628	+	ENSG00000186352.8	protein_coding	Lrp2bp	4q35.1	ankyrin repeat domain 37	Ubiquitous expression in esophagus (RPKM 19.3), prostate (RPKM 17.2) and 25 other tissues
ANKRD39	chr2	96836611	96858095	-	ENSG00000213337.8	protein_coding	-	2q11.2	ankyrin repeat domain 39	-
ANKRD40	chr17	50693190	50707924	-	ENSG00000154945.6	protein_coding	-	17q21.33	ankyrin repeat domain 40	-
ANKRD42	chr11	83193739	83260694	+	ENSG00000137494.13	protein_coding	PPP1R79|SARP	11q14.1	ankyrin repeat domain 42	Broad expression in testis (RPKM 10.9), thyroid (RPKM 3.7) and 24 other tissues
ANKRD44	chr2	196967017	197311173	-	ENSG00000065413.18	protein_coding	PP6-ARS-B	2q33.1	ankyrin repeat domain 44	Broad expression in lymph node (RPKM 12.0), appendix (RPKM 9.6) and 23 other tissues
ANKRD44-IT1	chr2	197250858	197302519	-	ENSG00000236977.1	sense_intronic	-	2q33.1	ANKRD44 intronic transcript 1	-
ANKRD45	chr1	173609561	173669862	-	ENSG00000183831.6	protein_coding	CT117	1q25.1	ankyrin repeat domain 45	Biased expression in testis (RPKM 3.3), brain (RPKM 0.8) and 5 other tissues
ANKRD46	chr8	100509752	100559784	-	ENSG00000186106.11	protein_coding	ANK-S|GENX-115279	8q22.3	ankyrin repeat domain 46	This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
ANKRD50	chr4	124664052	124712732	-	ENSG00000151458.11	protein_coding	-	4q28.1	ankyrin repeat domain 50	-
ANKRD52	chr12	56237807	56258391	-	ENSG00000139645.9	protein_coding	ANKRD33	12q13.3	ankyrin repeat domain 52	Ubiquitous expression in brain (RPKM 7.6), adrenal (RPKM 6.8) and 25 other tissues
ANKRD53	chr2	70978380	70985499	+	ENSG00000144031.11	protein_coding	-	2p13.3	ankyrin repeat domain 53	-
ANKRD54	chr22	37830855	37849327	-	ENSG00000100124.14	protein_coding	LIAR	22q13.1	ankyrin repeat domain 54	Ubiquitous expression in testis (RPKM 9.1), ovary (RPKM 5.1) and 25 other tissues
ANKRD55	chr5	56099678	56233359	-	ENSG00000164512.17	protein_coding	-	5q11.2	ankyrin repeat domain 55	-
ANKRD61	chr7	6031376	6036386	+	ENSG00000157999.5	protein_coding	-	7p22.1	ankyrin repeat domain 61	Biased expression in testis (RPKM 3.5), bone marrow (RPKM 1.7) and 12 other tissues
ANKRD63	chr15	40281444	40282586	-	ENSG00000230778.1	protein_coding	-	15q15.1	ankyrin repeat domain 63	-
ANKRD65	chr1	1418420	1421769	-	ENSG00000235098.8	protein_coding	-	1p36.33	ankyrin repeat domain 65	-
ANKRD7	chr7	118214669	118496171	+	ENSG00000106013.14	protein_coding	TSA806	7q31.31	ankyrin repeat domain 7	Restricted expression toward testis (RPKM 443.3)
ANKRD9	chr14	102501760	102509799	-	ENSG00000156381.8	protein_coding	-	14q32.31	ankyrin repeat domain 9	-
ANKS1A	chr6	34889265	35091413	+	ENSG00000064999.13	protein_coding	ANKS1	6p21.31	ankyrin repeat and sterile alpha motif domain containing 1A	Ubiquitous expression in placenta (RPKM 8.5), testis (RPKM 6.9) and 25 other tissues
ANKS1B	chr12	98726457	99984654	-	ENSG00000185046.18	protein_coding	AIDA|AIDA-1|ANKS2|EB-1|EB1|cajalin-2	12q23.1	ankyrin repeat and sterile alpha motif domain containing 1B	This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimers disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]
ANKS3	chr16	4696510	4734378	-	ENSG00000168096.14	protein_coding	-	16p13.3	ankyrin repeat and sterile alpha motif domain containing 3	-
ANKS6	chr9	98731329	98796965	-	ENSG00000165138.17	protein_coding	ANKRD14|NPHP16|PKDR1|SAMD6	9q22.33	ankyrin repeat and sterile alpha motif domain containing 6	This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]
ANKUB1	chr3	149761100	149968385	-	ENSG00000206199.10	protein_coding	C3orf16	3q25.1	ankyrin repeat and ubiquitin domain containing 1	Low expression observed in reference dataset
ANKZF1	chr2	219229757	219236669	+	ENSG00000163516.13	protein_coding	Vms1|ZNF744	2q35	ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1	Ubiquitous expression in lymph node (RPKM 19.0), spleen (RPKM 18.7) and 25 other tissues
ANLN	chr7	36389806	36453791	+	ENSG00000011426.10	protein_coding	FSGS8|Scraps|scra	7p14.2	anillin actin binding protein	This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
ANO1	chr11	70078302	70189528	+	ENSG00000131620.17	protein_coding	DOG1|ORAOV2|TAOS2|TMEM16A	11q13.3	anoctamin 1	Broad expression in skin (RPKM 23.9), salivary gland (RPKM 22.1) and 16 other tissues
ANO10	chr3	43354859	43691594	-	ENSG00000160746.12	protein_coding	SCAR10|TMEM16K	3p22.1-p21.33	anoctamin 10	The transmembrane protein encoded by this gene belongs to the anoctamin family of calcium-activated chloride channels, also known as the transmembrane 16 family. The encoded protein contains eight transmembrane domains with cytosolic N- and C-termini. Defects in this gene may cause autosomal recessive spinocerebellar ataxia-10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
ANO2	chr12	5531869	5946232	-	ENSG00000047617.14	protein_coding	C12orf3|TMEM16B	12p13.31	anoctamin 2	ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011]
ANO3	chr11	26309599	26663288	+	ENSG00000134343.12	protein_coding	C11orf25|DYT23|DYT24|GENX-3947|TMEM16C	11p14.3-p14.2	anoctamin 3	The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
ANO6	chr12	45215987	45440404	+	ENSG00000177119.15	protein_coding	BDPLT7|SCTS|TMEM16F	12q12	anoctamin 6	This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
ANO7	chr2	241188509	241225377	+	ENSG00000146205.13	protein_coding	D-TMPP|DTMPP|IPCA-5|IPCA5|NGEP|PCANAP5|PCANAP5L|TMEM16G	2q37.3	anoctamin 7	This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2011]
ANO7L1	chr1	16215909	16228027	-	ENSG00000237276.8	transcribed_unprocessed_pseudogene	ANO7P1|C1orf224|TMEM16M	1p36.13	anoctamin 7 like 1 (pseudogene)	Broad expression in esophagus (RPKM 1.8), salivary gland (RPKM 1.1) and 23 other tissues
ANO8	chr19	17323223	17334829	-	ENSG00000074855.10	protein_coding	KIAA1623|TMEM16H	19p13.11	anoctamin 8	Ubiquitous expression in brain (RPKM 8.2), skin (RPKM 5.5) and 25 other tissues
ANO9	chr11	417933	442011	-	ENSG00000185101.12	protein_coding	PIG5|TMEM16J|TP53I5	11p15.5	anoctamin 9	The protein encoded by this gene is a member of the TMEM16 (anoctamin) family of proteins, some of which form integral membrane calcium-activated chloride channels. The function of the encoded protein has yet to be elucidated, although it may have channel-forming abilities and also may have phospholipid scramblase activity. This gene has been observed to be upregulated in stage II and III colorectal cancers. [provided by RefSeq, Dec 2016]
ANP32A	chr15	68778535	68820897	-	ENSG00000140350.15	protein_coding	C15orf1|HPPCn|I1PP2A|LANP|MAPM|PHAP1|PHAPI|PP32	15q23	acidic nuclear phosphoprotein 32 family member A	Ubiquitous expression in lymph node (RPKM 45.8), bone marrow (RPKM 40.5) and 25 other tissues
ANP32B	chr9	97983361	98015943	+	ENSG00000136938.8	protein_coding	APRIL|PHAPI2|SSP29	9q22.33	acidic nuclear phosphoprotein 32 family member B	Ubiquitous expression in bone marrow (RPKM 88.8), lymph node (RPKM 73.8) and 25 other tissues
ANP32BP1	chr15	75321397	75322693	-	ENSG00000259790.1	transcribed_processed_pseudogene	-	15q24.2	acidic nuclear phosphoprotein 32 family member B pseudogene 1	-
ANP32BP3	chr15	81117635	81118340	-	ENSG00000259461.1	processed_pseudogene	-	15q25.1	acidic nuclear phosphoprotein 32 family member B pseudogene 3	-
ANP32E	chr1	150218417	150236156	-	ENSG00000143401.14	protein_coding	LANP-L|LANPL	1q21.2	acidic nuclear phosphoprotein 32 family member E	Ubiquitous expression in lymph node (RPKM 31.5), bone marrow (RPKM 21.4) and 24 other tissues
ANPEP	chr15	89784889	89815401	-	ENSG00000166825.13	protein_coding	APN|CD13|GP150|LAP1|P150|PEPN	15q26.1	alanyl aminopeptidase, membrane	Aminopeptidase N is located in the small-intestinal and renal microvillar membrane, and also in other plasma membranes. In the small intestine aminopeptidase N plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Its function in proximal tubular epithelial cells and other cell types is less clear. The large extracellular carboxyterminal domain contains a pentapeptide consensus sequence characteristic of members of the zinc-binding metalloproteinase superfamily. Sequence comparisons with known enzymes of this class showed that CD13 and aminopeptidase N are identical. The latter enzyme was thought to be involved in the metabolism of regulatory peptides by diverse cell types, including small intestinal and renal tubular epithelial cells, macrophages, granulocytes, and synaptic membranes from the CNS. This membrane-bound zinc metalloprotease is known to serve as a receptor for the HCoV-229E alphacoronavirus as well as other non-human coronaviruses. This gene has also been shown to promote angiogenesis, tumor growth, and metastasis and defects in this gene are associated with various types of leukemia and lymphoma. [provided by RefSeq, Apr 2020]
ANTKMT	chr16	 721146	722590	+	ENSG00000103254	protein-coding	ANT-KMT|C16orf24|FAM173A	16p13.3	adenine nucleotide translocase lysine methyltransferase	Broad expression in kidney (RPKM 5.7), colon (RPKM 4.4) and 22 other tissues
ANTXR1	chr2	69013178	69249327	+	ENSG00000169604.19	protein_coding	ATR|GAPO|TEM8	2p13.3	ANTXR cell adhesion molecule 1	This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]
ANTXR2	chr4	79901149	80125454	-	ENSG00000163297.16	protein_coding	CMG-2|CMG2|HFS|ISH|JHF	4q21.21	ANTXR cell adhesion molecule 2	This gene encodes a receptor for anthrax toxin. The protein binds to collagen IV and laminin, suggesting that it may be involved in extracellular matrix adhesion. Mutations in this gene cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
ANXA1	chr9	73151757	73170393	+	ENSG00000135046.13	protein_coding	ANX1|LPC1	9q21.13	annexin A1	This gene encodes a membrane-localized protein that binds phospholipids. This protein inhibits phospholipase A2 and has anti-inflammatory activity. Loss of function or expression of this gene has been detected in multiple tumors. [provided by RefSeq, Dec 2014]
ANXA11	chr10	80150889	80205572	-	ENSG00000122359.17	protein_coding	ALS23|ANX11|CAP-50|CAP50	10q22.3	annexin A11	This gene encodes a member of the annexin family, a group of calcium-dependent phospholipid-binding proteins. Annexins have unique N-terminal domains and conserved C-terminal domains, which contain calcium-dependent phospholipid-binding sites. The encoded protein is a 56-kD antigen recognized by sera from patients with various autoimmune diseases. Several transcript variants encoding two different isoforms have been identified. [provided by RefSeq, Dec 2015]
ANXA13	chr8	123680794	123737407	-	ENSG00000104537.16	protein_coding	ANX13|ISA	8q24.13	annexin A13	This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. The specific function of this gene has not yet been determined; however, it is associated with the plasma membrane of undifferentiated, proliferating endothelial cells and differentiated villus enterocytes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
ANXA2	chr15	60347134	60402883	-	ENSG00000182718.16	protein_coding	ANX2|ANX2L4|CAL1H|HEL-S-270|LIP2|LPC2|LPC2D|P36|PAP-IV	15q22.2	annexin A2	This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. Annexin A2 expression has been found to correlate with resistance to treatment against various cancer forms. [provided by RefSeq, Dec 2019]
ANXA2R	chr5	43039081	43043170	-	ENSG00000177721.4	protein_coding	AX2R|AXIIR|C5orf39	5p12	annexin A2 receptor	-
ANXA4	chr2	69644425	69827100	+	ENSG00000196975.15	protein_coding	ANX4|HEL-S-274|P32.5|PAP-II|PIG28|PP4-X|ZAP36	2p13.3	annexin A4	Annexin IV (ANX4) belongs to the annexin family of calcium-dependent phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. ANX4 has 45 to 59% identity with other members of its family and shares a similar size and exon-intron organization. Isolated from human placenta, ANX4 encodes a protein that has possible interactions with ATP, and has in vitro anticoagulant activity and also inhibits phospholipase A2 activity. ANX4 is almost exclusively expressed in epithelial cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2016]
ANXA5	chr4	121667955	121697113	-	ENSG00000164111.14	protein_coding	ANX5|ENX2|HEL-S-7|PP4|RPRGL3	4q27	annexin A5	The Annexin 5 gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa.The protein encoded by this gene belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. Polymorphisms in this gene have been implicated in various obstetric complications. [provided by RefSeq, Dec 2019]
ANXA6	chr5	151100712	151157882	-	ENSG00000197043.13	protein_coding	ANX6|CBP68|CPB-II|p68|p70	5q33.1	annexin A6	Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. The annexin VI gene is approximately 60 kbp long and contains 26 exons. It encodes a protein of about 68 kDa that consists of eight 68-amino acid repeats separated by linking sequences of variable lengths. It is highly similar to human annexins I and II sequences, each of which contain four such repeats. Annexin VI has been implicated in mediating the endosome aggregation and vesicle fusion in secreting epithelia during exocytosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]
ANXA7	chr10	73375101	73414076	-	ENSG00000138279.15	protein_coding	ANX7|SNX|SYNEXIN	10q22.2	annexin A7	Annexin VII is a member of the annexin family of calcium-dependent phospholipid binding proteins.The Annexin VII gene contains 14 exons and spans approximately 34 kb of DNA. An alternatively spliced cassette exon results in two mRNA transcripts of 2.0 and 2.4 kb which are predicted to generate two protein isoforms differing in their N-terminal domain. The alternative splicing event is tissue specific and the mRNA containing the cassette exon is prevalent in brain, heart and skeletal muscle. The transcripts also differ in their 3-non coding regions by the use of two alternative poly(A) signals. Annexin VII encodes a protein with a molecular weight of approximately 51 kDa with a unique, highly hydrophobic N-terminal domain of 167 amino acids and a conserved C-terminal region of 299 amino acids. The latter domain is composed of alternating hydrophobic and hydrophilic segments. Structural analysis of the protein suggests that Annexin VII is a membrane binding protein with diverse properties, including voltage-sensitive calcium channel activity, ion selectivity and membrane fusion. [provided by RefSeq, Jul 2008]
ANXA9	chr1	150982017	150995634	+	ENSG00000143412.9	protein_coding	ANX31	1q21.3	annexin A9	The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annexins to aggregate and cooperatively bind anionic phospholipids and extracellular matrix proteins. This gene encodes a divergent member of the annexin protein family in which all four homologous type II calcium-binding sites in the conserved tetrad core contain amino acid substitutions that ablate their function. However, structural analysis suggests that the conserved putative ion channel formed by the tetrad core is intact. [provided by RefSeq, Jul 2008]
AOC1	chr7	150824627	150861504	+	ENSG00000002726.20	protein_coding	ABP|ABP1|DAO|DAO1|KAO	7q36.1	amine oxidase copper containing 1	This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
AOC2	chr17	42844600	42850707	+	ENSG00000131480.8	protein_coding	DAO2|RAO|SSAO	17q21.31	amine oxidase copper containing 2	Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
AOC3	chr17	42851184	42858130	+	ENSG00000131471.6	protein_coding	HPAO|SSAO|VAP-1|VAP1	17q21.31	amine oxidase copper containing 3	This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
AOC4P	chr17	42865922	42874369	+	ENSG00000260105.6	transcribed_unprocessed_pseudogene	AOC4|UPAT	17q21.31	amine oxidase copper containing 4, pseudogene	-
AOPEP	chr9	 94726699	95150224	+	ENSG00000148120	protein-coding	AP-O|APO|C90RF3|C9orf3|ONPEP	9q22.32	aminopeptidase O (putative)	This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
AOX1	chr2	200585868	200677064	+	ENSG00000138356.13	protein_coding	AO|AOH1	2q33.1	aldehyde oxidase 1	Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]
AOX3P	chr2	200678233	200734109	+	ENSG00000244301.6	transcribed_unitary_pseudogene	AOH1|AOX3	2q33.1	aldehyde oxidase 3, pseudogene	-
AP000240.9	chr21	29359002	29359453	+	ENSG00000273017.1	sense_intronic	-	-	-	-
AP000254.8	chr21	31666728	31667247	-	ENSG00000273271.1	antisense	-	-	-	-
AP000255.6	chr21	31735732	31736407	+	ENSG00000273091.1	lincRNA	-	-	-	-
AP000302.58	chr21	33482499	33484258	-	ENSG00000231355.1	antisense	-	-	-	-
AP000318.2	chr21	34205055	34325034	+	ENSG00000214955.5	lincRNA	-	-	-	-
AP000320.6	chr21	34370802	34375348	-	ENSG00000225555.1	antisense	-	-	-	-
AP000347.2	chr22	23658094	23717356	-	ENSG00000272578.5	transcribed_unprocessed_pseudogene	-	-	-	-
AP000355.2	chr22	24516508	24518386	+	ENSG00000228923.1	antisense	-	-	-	-
AP000436.4	chr11	65025390	65026515	-	ENSG00000270775.1	processed_pseudogene	-	-	-	-
AP000439.1	chr11	69425690	69429621	+	ENSG00000255980.1	lincRNA	-	-	-	-
AP000439.3	chr11	69477133	69479940	-	ENSG00000255774.1	lincRNA	-	-	-	-
AP000439.5	chr11	69467598	69469705	+	ENSG00000261347.1	lincRNA	-	-	-	-
AP000442.1	chr11	59616429	59639861	+	ENSG00000255139.1	antisense	-	-	-	-
AP000442.4	chr11	59561146	59566074	-	ENSG00000255008.2	lincRNA	-	-	-	-
AP000462.3	chr11	115333577	115340262	+	ENSG00000256972.1	lincRNA	-	-	-	-
AP000473.8	chr21	16643529	16645065	+	ENSG00000270093.1	lincRNA	-	-	-	-
AP000560.3	chr11	74830574	74832510	-	ENSG00000278879.1	TEC	-	-	-	-
AP000569.9	chr21	33967101	33968573	-	ENSG00000273102.1	lincRNA	-	-	-	-
AP000580.1	chr11	77813319	77813676	-	ENSG00000219529.2	processed_pseudogene	-	-	-	-
AP000640.10	chr11	59753015	59754975	-	ENSG00000254477.1	antisense	-	-	-	-
AP000640.2	chr11	59669312	59676041	+	ENSG00000255355.1	processed_transcript	-	-	-	-
AP000662.4	chr11	57638024	57652790	+	ENSG00000254602.1	sense_overlapping	-	-	-	-
AP000679.2	chr11	120168977	120171679	+	ENSG00000176984.6	antisense	-	-	-	-
AP000688.14	chr21	36069642	36126640	-	ENSG00000230212.6	sense_intronic	-	-	-	-
AP000688.29	chr21	36104881	36109690	+	ENSG00000233393.1	lincRNA	-	-	-	-
AP000692.10	chr21	36319792	36320670	-	ENSG00000273199.1	antisense	-	-	-	-
AP000692.9	chr21	36360630	36362040	+	ENSG00000228107.1	sense_overlapping	-	-	-	-
AP000695.4	chr21	36445731	36532408	+	ENSG00000233818.1	antisense	-	-	-	-
AP000695.6	chr21	36430360	36481070	+	ENSG00000230479.1	antisense	-	-	-	-
AP000770.1	chr11	116639422	116658252	+	ENSG00000237937.5	lincRNA	-	-	-	-
AP000892.6	chr11	117204967	117210292	+	ENSG00000280143.1	TEC	-	-	-	-
AP000936.4	chr11	117098987	117108170	+	ENSG00000224077.1	antisense	-	-	-	-
AP001042.1	chr21	38846247	38848644	+	ENSG00000229986.1	lincRNA	-	-	-	-
AP001057.1	chr21	44201290	44202696	+	ENSG00000232124.1	antisense	-	-	-	-
AP001092.4	chr11	64646399	64659681	+	ENSG00000237410.1	antisense	-	-	-	-
AP001171.1	chr21	20256752	20258820	-	ENSG00000233236.1	lincRNA	-	-	-	-
AP001172.2	chr21	16291791	16308133	-	ENSG00000270071.1	lincRNA	-	-	-	-
AP001189.4	chr11	76657056	76663866	+	ENSG00000236304.1	antisense	-	-	-	-
AP001257.1	chr11	60159687	60160822	-	ENSG00000254952.1	lincRNA	-	-	-	-
AP001425.14	chr21	38204141	38206080	-	ENSG00000270835.2	transcribed_processed_pseudogene	-	-	-	-
AP001429.1	chr21	37100814	37101343	+	ENSG00000270116.1	sense_intronic	-	-	-	-
AP001434.2	chr21	38237217	38238201	-	ENSG00000226012.1	lincRNA	-	-	-	-
AP001437.1	chr21	37365477	37365932	-	ENSG00000273210.1	antisense	-	-	-	-
AP001462.6	chr11	64778954	64779405	+	ENSG00000269038.1	lincRNA	-	-	-	-
AP001469.5	chr21	46220269	46225364	+	ENSG00000223901.2	antisense	-	-	-	-
AP001469.7	chr21	46246890	46247682	+	ENSG00000228137.1	antisense	-	-	-	-
AP001469.9	chr21	46251549	46254133	-	ENSG00000239415.1	antisense	-	-	-	-
AP001604.3	chr21	27358885	27448579	-	ENSG00000231236.2	lincRNA	-	-	-	-
AP001610.5	chr21	41441056	41445708	-	ENSG00000228318.3	antisense	-	-	-	-
AP001628.7	chr21	42781074	42782229	-	ENSG00000233754.2	lincRNA	-	-	-	-
AP002954.3	chr11	118636620	118638097	+	ENSG00000255176.1	antisense	-	-	-	-
AP002954.4	chr11	118704607	118750263	+	ENSG00000255422.1	antisense	-	-	-	-
AP003068.23	chr11	65177606	65181834	-	ENSG00000254614.2	antisense	-	-	-	-
AP003068.9	chr11	65110714	65111695	-	ENSG00000254501.1	antisense	-	-	-	-
AP003419.16	chr11	67431367	67435399	-	ENSG00000255949.1	antisense	-	-	-	-
AP003774.1	chr11	64325050	64329504	-	ENSG00000236935.1	antisense	-	-	-	-
AP003774.4	chr11	64449074	64451657	+	ENSG00000181908.5	lincRNA	-	-	-	-
AP005530.1	chr18	11103	15928	+	ENSG00000262352.1	lincRNA	-	-	-	-
AP005530.2	chr18	14195	16898	-	ENSG00000263305.1	lincRNA	-	-	-	-
AP006216.5	chr11	116813204	116814003	-	ENSG00000236267.1	antisense	-	-	-	-
AP006285.6	chr11	1688297	1689056	+	ENSG00000227306.1	lincRNA	-	-	-	-
AP006285.7	chr11	1662584	1663343	-	ENSG00000231487.1	lincRNA	-	-	-	-
AP006547.3	chr8	142620373	142621064	+	ENSG00000261044.1	antisense	-	-	-	-
AP006621.5	chr11	777578	784297	+	ENSG00000255284.1	lincRNA	-	-	-	-
AP006621.6	chr11	781645	782105	+	ENSG00000255142.1	lincRNA	-	-	-	-
AP006621.8	chr11	823634	832883	-	ENSG00000255108.1	antisense	-	-	-	-
AP006621.9	chr11	708564	727047	-	ENSG00000269915.1	antisense	-	-	-	-
AP1B1	chr22	29327680	29423179	-	ENSG00000100280.16	protein_coding	ADTB1|AP105A|BAM22|CLAPB2|KIDAR	22q12.2	adaptor related protein complex 1 subunit beta 1	Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as one of the large subunits of this complex and is a member of the adaptin protein family. This gene is a candidate meningioma gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
AP1G1	chr16	71729000	71809201	-	ENSG00000166747.12	protein_coding	ADTG|CLAPG1|USRISD	16q22.2	adaptor related protein complex 1 subunit gamma 1	Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
AP1G2	chr14	23559565	23568070	-	ENSG00000213983.11	protein_coding	G2AD	14q11.2	adaptor related protein complex 1 subunit gamma 2	Adaptins are important components of clathrin-coated vesicles transporting ligand-receptor complexes from the plasma membrane or from the trans-Golgi network to lysosomes. The adaptin family of proteins is composed of four classes of molecules named alpha, beta-, beta prime- and gamma- adaptins. Adaptins, together with medium and small subunits, form a heterotetrameric complex called an adaptor, whose role is to promote the formation of clathrin-coated pits and vesicles. The protein encoded by this gene is a gamma-adaptin protein and it belongs to the adaptor complexes large subunits family. This protein along with the complex is thought to function at some trafficking step in the complex pathways between the trans-Golgi network and the cell surface. [provided by RefSeq, Aug 2017]
AP1M1	chr19	16197578	16245907	+	ENSG00000072958.8	protein_coding	AP47|CLAPM2|CLTNM|MU-1A|mu1A	19p13.11	adaptor related protein complex 1 subunit mu 1	The protein encoded by this gene is the medium chain of the trans-Golgi network clathrin-associated protein complex AP-1. The other components of this complex are beta-prime-adaptin, gamma-adaptin, and the small chain AP1S1. This complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
AP1M2	chr19	10572671	10587315	-	ENSG00000129354.11	protein_coding	AP1-mu2|HSMU1B|MU-1B|MU1B|mu2	19p13.2	adaptor related protein complex 1 subunit mu 2	This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
AP1S1	chr7	101154397	101161596	+	ENSG00000106367.13	protein_coding	AP19|CLAPS1|EKV3|MEDNIK|SIGMA1A	7q22.1	adaptor related protein complex 1 subunit sigma 1	The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. [provided by RefSeq, Jul 2008]
AP1S3	chr2	223751686	223838027	-	ENSG00000152056.16	protein_coding	PSORS15|sigma1C	2q36.1	adaptor related protein complex 1 subunit sigma 3	This gene encodes a member of the adaptor-related protein complex 1, sigma subunit genes. The encoded protein is a component of adaptor protein complex 1 (AP-1), one of the AP complexes involved in claathrin-mediated vesicular transport from the Golgi or endosomes. Disruption of the pathway for display of HIV-1 antigens, which prevents recognition of the virus by cytotoxic T cells, has been shown to involve the AP-1 complex (PMID: 15569716). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
AP2A1	chr19	49766968	49807113	+	ENSG00000196961.12	protein_coding	ADTAA|AP2-ALPHA|CLAPA1	19q13.33	adaptor related protein complex 2 subunit alpha 1	This gene encodes the alpha 1 adaptin subunit of the adaptor protein 2 (AP-2) complex found in clathrin coated vesicles. The AP-2 complex is a heterotetramer consisting of two large adaptins (alpha or beta), a medium adaptin (mu), and a small adaptin (sigma). The complex is part of the protein coat on the cytoplasmic face of coated vesicles which links clathrin to receptors in vesicles. Alternative splicing of this gene results in two transcript variants encoding two different isoforms. A third transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]
AP2A2	chr11	924894	1012245	+	ENSG00000183020.13	protein_coding	ADTAB|CLAPA2|HIP-9|HIP9|HYPJ	11p15.5	adaptor related protein complex 2 subunit alpha 2	The protein encoded by this gene is a subunit of the AP-2 adaptor protein complex, which is involved in linking lipid and protein membrane components with the clathrin lattice. This interaction supports the formation of clathrin-coated vesicles, and the encoded subunit aids in the process by binding polyphosphoinositide-containing lipids in the cell membrane. [provided by RefSeq, Nov 2016]
AP2B1	chr17	35578046	35726409	+	ENSG00000006125.17	protein_coding	ADTB2|AP105B|AP2-BETA|CLAPB1	17q12	adaptor related protein complex 2 subunit beta 1	The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
AP2M1	chr3	184174689	184184091	+	ENSG00000161203.13	protein_coding	AP50|CLAPM1|MRD60|mu2	3q27.1	adaptor related protein complex 2 subunit mu 1	This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
AP2S1	chr19	46838136	46850992	-	ENSG00000042753.11	protein_coding	AP17|CLAPS2|FBH3|FBHOk|HHC3	19q13.32	adaptor related protein complex 2 subunit sigma 1	One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
AP3B1	chr5	78000525	78294755	-	ENSG00000132842.13	protein_coding	ADTB3|ADTB3A|HPS|HPS2|PE	5q14.1	adaptor related protein complex 3 subunit beta 1	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
AP3B2	chr15	82659281	82709914	-	ENSG00000103723.12	protein_coding	DEE48|EIEE48|NAPTB	15q25.2	adaptor related protein complex 3 subunit beta 2	Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first identified as the target antigen in human paraneoplastic neurologic disorders. The encoded subunit binds clathrin and is phosphorylated by a casein kinase-like protein, which mediates synaptic vesicle coat assembly. Defects in this gene are a cause of early-onset epileptic encephalopathy. [provided by RefSeq, Feb 2017]
AP3D1	chr19	2100988	2164465	-	ENSG00000065000.15	protein_coding	ADTD|HPS10|hBLVR	19p13.3	adaptor related protein complex 3 subunit delta 1	The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017]
AP3M1	chr10	74120255	74151063	-	ENSG00000185009.12	protein_coding	-	10q22.2	adaptor related protein complex 3 subunit mu 1	Ubiquitous expression in placenta (RPKM 10.7), thyroid (RPKM 10.7) and 25 other tissues
AP3M2	chr8	42152946	42171673	+	ENSG00000070718.11	protein_coding	AP47B|CLA20|P47B	8p11.21	adaptor related protein complex 3 subunit mu 2	This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 3 (AP-3), which belongs to the adaptor complexes medium subunits family. The AP-3 complex plays a role in protein trafficking to lysosomes and specialized organelles. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2008]
AP3S1	chr5	115841481	115914081	+	ENSG00000177879.15	protein_coding	CLAPS3|Sigma3A	5q22.3-q23.1	adaptor related protein complex 3 subunit sigma 1	This gene encodes a subunit of the AP3 adaptor complex. This complex functions in the formation of subcellular vesicles budded from the Golgi body. Several related pseudogenes of this gene have been found. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
AP3S2	chr15	89830599	89894638	-	ENSG00000157823.16	protein_coding	AP3S3|sigma3b	15q26.1	adaptor related protein complex 3 subunit sigma 2	Ubiquitous expression in kidney (RPKM 10.1), thyroid (RPKM 9.4) and 25 other tissues
AP4B1	chr1	113894748	113905201	-	ENSG00000134262.12	protein_coding	BETA-4|CPSQ5|SPG47	1p13.2	adaptor related protein complex 4 subunit beta 1	This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
AP4B1-AS1	chr1	113856635	113901237	+	ENSG00000226167.1	antisense	-	1p13.2	AP4B1 antisense RNA 1	-
AP4E1	chr15	50908672	51005900	+	ENSG00000081014.10	protein_coding	CPSQ4|SPG51|STUT1	15q21.2	adaptor related protein complex 4 subunit epsilon 1	This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is a large subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Disruption of this gene may be associated with cerebral palsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
AP4M1	chr7	100101549	100110345	+	ENSG00000221838.9	protein_coding	CPSQ3|MU-4|MU-ARP2|SPG50	7q22.1	adaptor related protein complex 4 subunit mu 1	This gene encodes a subunit of the heterotetrameric AP-4 complex. The encoded protein belongs to the adaptor complexes medium subunits family. This AP-4 complex is involved in the recognition and sorting of cargo proteins with tyrosine-based motifs from the trans-golgi network to the endosomal-lysosomal system. [provided by RefSeq, Jul 2008]
AP4S1	chr14	31025106	31096450	+	ENSG00000100478.14	protein_coding	AP47B|CLA20|CLAPS4|CPSQ6|SPG52	14q12	adaptor related protein complex 4 subunit sigma 1	This gene encodes a member of the adaptor complexes small subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle formation and sorting of integral membrane proteins. The encoded protein is the small subunit of adaptor protein complex-4, which is associated with both clathrin- and nonclathrin-coated vesicles. Mutations in this gene are associated with spastic quadriplegic cerebral palsy-6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Dec 2011]
AP5B1	chr11	65775893	65780802	-	ENSG00000254470.2	protein_coding	AP-5|PP1030	11q13.1	adaptor related protein complex 5 subunit beta 1	Broad expression in bone marrow (RPKM 18.6), spleen (RPKM 4.9) and 24 other tissues
AP5M1	chr14	57268909	57298742	+	ENSG00000053770.11	protein_coding	C14orf108|MUDENG|Mu5|MuD	14q22.3	adaptor related protein complex 5 subunit mu 1	Ubiquitous expression in kidney (RPKM 5.4), duodenum (RPKM 5.4) and 25 other tissues
APAF1	chr12	98645141	98735433	+	ENSG00000120868.13	protein_coding	APAF-1|CED4	12q23.1	apoptotic peptidase activating factor 1	This gene encodes a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
APBA1	chr9	69427530	69672306	-	ENSG00000107282.7	protein_coding	D9S411E|LIN10|MINT1|X11|X11A|X11ALPHA	9q21.12	amyloid beta precursor protein binding family A member 1	The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimers disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimers disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008]
APBA2	chr15	28884483	29118315	+	ENSG00000034053.14	protein_coding	D15S1518E|HsT16821|LIN-10|MGC:14091|MINT2|X11-BETA|X11L	15q13.1	amyloid beta precursor protein binding family A member 2	The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimers disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimers disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2017]
APBA3	chr19	3750819	3761699	-	ENSG00000011132.11	protein_coding	MGC:15815|X11L2|mint3	19p13.3	amyloid beta precursor protein binding family A member 3	The protein encoded by this gene is a member of the X11 protein family. It is an adapter protein that interacts with the Alzheimers disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimers disease. [provided by RefSeq, Jul 2008]
APBB1IP	chr10	26438203	26567803	+	ENSG00000077420.15	protein_coding	INAG1|PREL1|RARP1|RIAM	10p12.1	amyloid beta precursor protein binding family B member 1 interacting protein	Broad expression in appendix (RPKM 24.2), spleen (RPKM 22.5) and 16 other tissues
APBB2	chr4	40810027	41216714	-	ENSG00000163697.16	protein_coding	FE65L|FE65L1	4p14-p13	amyloid beta precursor protein binding family B member 2	The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimers disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
APBB3	chr5	140558268	140564781	-	ENSG00000113108.19	protein_coding	FE65L2|SRA	5q31.3	amyloid beta precursor protein binding family B member 3	The protein encoded by this gene is a member of the APBB protein family. It is found in the cytoplasm and binds to the intracellular domain of the Alzheimers disease beta-amyloid precursor protein (APP) as well as to other APP-like proteins. It is thought that the protein encoded by this gene may modulate the internalization of APP. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
APC	chr5	112707498	112846239	+	ENSG00000134982.16	protein_coding	BTPS2|DESMD|DP2|DP2.5|DP3|GS|PPP1R46	5q22.2	APC regulator of WNT signaling pathway	This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Mutations in the APC gene have been found to occur in most colorectal cancers. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Dec 2019]
APC2	chr19	1446302	1473244	+	ENSG00000115266.11	protein_coding	APCL	19p13.3	APC regulator of WNT signaling pathway 2	This gene encodes a strongly conserved protein that has an N-terminal coiled-coil domain followed by an armadillo domain, five 20-amino acid repeats, and two SAMP domains. This protein promotes the assembly of a multiprotein complex that recruits and phosphorylates the Wnt effector beta-catenin and targets beta-catenin for ubiquitylation and proteasomal degradation. This protein therefore plays a role in the reduction of cytoplasmic levels of beta-catenin which in turn reduces activation of Wnt target genes that play a pivotal role in the pathogenesis of various human cancers. The protein encoded by this gene is closely related to the adenomatous polyposis coli (APC) tumor-suppressor protein and has similar tumor-suppressor effects. This gene also plays a role in actin assembly, cell-cell adhesion, and microtubule network formation through its interaction with cytoskeletal proteins. This gene has its highest expression in the central nervous system and is involved in brain development through cytoskeletal regulation in neurons. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017]
APCDD1	chr18	10454628	10489948	+	ENSG00000154856.12	protein_coding	B7323|DRAPC1|FP7019|HHS|HTS|HYPT1	18p11.22	APC down-regulated 1	This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010]
APCDD1L	chr20	58459101	58515131	-	ENSG00000198768.10	protein_coding	-	20q13.32	APC down-regulated 1 like	-
APEH	chr3	49674002	49683963	+	ENSG00000164062.12	protein_coding	AARE|ACPH|APH|D3F15S2|D3S48E|DNF15S2|OPH	3p21.31	acylaminoacyl-peptide hydrolase	 This gene encodes the enzyme acylpeptide hydrolase, which catalyzes the hydrolysis of the terminal acetylated amino acid preferentially from small acetylated peptides. The acetyl amino acid formed by this hydrolase is further processed to acetate and a free amino acid by an aminoacylase. This gene is located within the same region of chromosome 3 (3p21) as the aminoacylase gene, and deletions at this locus are also associated with a decrease in aminoacylase activity. The acylpeptide hydrolase is a homotetrameric protein of 300 kDa with each subunit consisting of 732 amino acid residues. It can play an important role in destroying oxidatively damaged proteins in living cells. Deletions of this gene locus are found in various types of carcinomas, including small cell lung carcinoma and renal cell carcinoma. [provided by RefSeq, Jul 2008]
APEX1	chr14	20455191	20457772	+	ENSG00000100823.11	protein_coding	APE|APE1|APEN|APEX|APX|HAP1|REF1	14q11.2	apurinic/apyrimidinic endodeoxyribonuclease 1	The APEX gene encodes the major AP endonuclease in human cells. It encodes the APEX endonuclease, a DNA repair enzyme with apurinic/apyrimidinic (AP) activity. Such AP activity sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. The AP sites are the most frequent pre-mutagenic lesions that can prevent normal DNA replication. Splice variants have been found for this gene; all encode the same protein. Disruptions in the biological functions related to APEX are associated with many various malignancies and neurodegenerative diseases.[provided by RefSeq, Dec 2019]
APH1A	chr1	150265399	150269580	-	ENSG00000117362.12	protein_coding	6530402N02Rik|APH-1|APH-1A|CGI-78	1q21.2	aph-1 homolog A, gamma-secretase subunit	This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimers disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011]
APH1B	chr15	63276018	63309126	+	ENSG00000138613.13	protein_coding	APH-1B|PRO1328|PSFL|TAAV688	15q22.2	aph-1 homolog B, gamma-secretase subunit	This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011]
API5	chr11	43311963	43344529	+	ENSG00000166181.12	protein_coding	AAC-11|AAC11	11p12	apoptosis inhibitor 5	This gene encodes an apoptosis inhibitory protein whose expression prevents apoptosis after growth factor deprivation. This protein suppresses the transcription factor E2F1-induced apoptosis and also interacts with, and negatively regulates Acinus, a nuclear factor involved in apoptotic DNA fragmentation. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
APIP	chr11	34853094	34916499	-	ENSG00000149089.12	protein_coding	APIP2|CGI-29|CGI29|MMRP19|hAPIP	11p13	APAF1 interacting protein	APIP is an APAF1 (MIM 602233)-interacting protein that acts as a negative regulator of ischemic/hypoxic injury (Cho et al., 2004 [PubMed 15262985]).[supplied by OMIM, Dec 2008]
APLNR	chr11	57233577	57237314	-	ENSG00000134817.10	protein_coding	AGTRL1|APJ|APJR|HG11	11q12.1	apelin receptor	This gene encodes a member of the G protein-coupled receptor gene family. The encoded protein is related to the angiotensin receptor, but is actually an apelin receptor that inhibits adenylate cyclase activity and plays a counter-regulatory role against the pressure action of angiotensin II by exerting hypertensive effect. It functions in the cardiovascular and central nervous systems, in glucose metabolism, in embryonic and tumor angiogenesis and as a human immunodeficiency virus (HIV-1) coreceptor. Two transcript variants resulting from alternative splicing have been identified. [provided by RefSeq, Jul 2009]
APMAP	chr20	24962925	24992979	-	ENSG00000101474.11	protein_coding	BSCv|C20orf3	20p11.21	adipocyte plasma membrane associated protein	Ubiquitous expression in thyroid (RPKM 46.5), fat (RPKM 34.1) and 24 other tissues
APOA1	chr11	116835751	116837950	-	ENSG00000118137.9	protein_coding	HPALP2|apo(a)	11q23.3	apolipoprotein A1	This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]
APOA1-AS	chr11	116836117	116855729	+	ENSG00000235910.1	antisense	-	11q23.3	APOA1 antisense RNA	-
APOA4	chr11	116820700	116823306	-	ENSG00000110244.6	protein_coding	-	11q23.3	apolipoprotein A4	Restricted expression toward small intestine (RPKM 1486.2)
APOA5	chr11	116789367	116792420	-	ENSG00000110243.11	protein_coding	APOAV|RAP3	11q23.3	apolipoprotein A5	The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]
APOB	chr2	21001429	21044073	-	ENSG00000084674.14	protein_coding	FCHL2|FLDB|LDLCQ4|apoB-100|apoB-48	2p24.1	apolipoprotein B	This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Dec 2019]
APOBEC2	chr6	41053304	41064511	+	ENSG00000124701.5	protein_coding	ARCD1|ARP1	6p21.1	apolipoprotein B mRNA editing enzyme catalytic subunit 2	Biased expression in heart (RPKM 45.3), prostate (RPKM 9.9) and 1 other tissue
APOBEC3A	chr22	38952741	38992778	+	ENSG00000128383.12	protein_coding	A3A|ARP3|PHRBN|bK150C2.1	22q13.1	apolipoprotein B mRNA editing enzyme catalytic subunit 3A	This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene lacks the zinc binding activity of other family members. The protein plays a role in immunity, by restricting transmission of foreign DNA such as viruses. One mechanism of foreign DNA restriction is deamination of foreign double-stranded DNA cytidines to uridines, which leads to DNA degradation. However, other mechanisms are also thought to be involved, as anti-viral effect is not dependent on deaminase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
APOBEC3B	chr22	38982347	38992804	+	ENSG00000179750.15	protein_coding	A3B|APOBEC1L|ARCD3|ARP4|DJ742C19.2|PHRBNL|bK150C2.2	22q13.1	apolipoprotein B mRNA editing enzyme catalytic subunit 3B	This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. A hybrid gene results from the deletion of approximately 29.5 kb of sequence between this gene, APOBEC3B, and the adjacent gene APOBEC3A. The breakpoints of the deletion are within the two genes, so the deletion allele is predicted to have the promoter and coding region of APOBEC3A, but the 3 UTR of APOBEC3B. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
APOBEC3B-AS1	chr22	38991559	38998209	-	ENSG00000249310.2	antisense	-	22q13.1	APOBEC3B antisense RNA 1	-
APOBEC3C	chr22	39014083	39020352	+	ENSG00000244509.3	protein_coding	A3C|APOBEC1L|ARDC2|ARDC4|ARP5|PBI|bK150C2.3	22q13.1	apolipoprotein B mRNA editing enzyme catalytic subunit 3C	This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. [provided by RefSeq, Jul 2008]
APOBEC3D	chr22	39021113	39033276	+	ENSG00000243811.8	protein_coding	A3D|A3DE|APOBEC3DE|APOBEC3E|ARP6	22q13.1	apolipoprotein B mRNA editing enzyme catalytic subunit 3D	This gene is a member of the cytidine deaminase gene family. It is one of a group of related genes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1 and inhibit retroviruses, such as HIV, by deaminating cytosine residues in nascent retroviral cDNA. [provided by RefSeq, Jul 2008]
APOBEC3F	chr22	39040604	39053910	+	ENSG00000128394.16	protein_coding	A3F|ARP8|BK150C2.4.MRNA|KA6	22q13.1	apolipoprotein B mRNA editing enzyme catalytic subunit 3F	This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. It is thought that the proteins may be RNA editing enzymes and have roles in growth or cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
APOBEC3G	chr22	39077005	39087743	+	ENSG00000239713.8	protein_coding	A3G|ARCD|ARP-9|ARP9|CEM-15|CEM15|MDS019|bK150C2.7|dJ494G10.1	22q13.1	apolipoprotein B mRNA editing enzyme catalytic subunit 3G	This gene is a member of the cytidine deaminase gene family. It is one of seven related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 22. Members of the cluster encode proteins that are structurally and functionally related to the C to U RNA-editing cytidine deaminase APOBEC1. The protein encoded by this gene catalyzes site-specific deamination of both RNA and single-stranded DNA. The encoded protein has been found to be a specific inhibitor of human immunodeficiency virus-1 (HIV-1) infectivity. [provided by RefSeq, Mar 2017]
APOBEC3H	chr22	39097224	39104067	+	ENSG00000100298.15	protein_coding	A3H|ARP-10|ARP10	22q13.1	apolipoprotein B mRNA editing enzyme catalytic subunit 3H	This gene encodes a member of the apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3 family of proteins. The encoded protein is a cytidine deaminase that has antiretroviral activity by generating lethal hypermutations in viral genomes. Polymorphisms and alternative splicing in this gene influence its antiretroviral activity and are associated with increased resistence to human immunodeficiency virus type 1 infection in certain populations. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
APOBEC4	chr1	183646404	183653316	-	ENSG00000173627.7	protein_coding	C1orf169	1q25.3	apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4	This gene encodes a member of the AID/APOBEC family of polynucleotide (deoxy)cytidine deaminases, which convert cytidine to uridine. Other AID/APOBEC family members are involved in mRNA editing, somatic hypermutation and recombination of immunoglobulin genes, and innate immunity to retroviral infection. [provided by RefSeq, Jul 2008]
APOBR	chr16	28494649	28498970	+	ENSG00000184730.10	protein_coding	APOB100R|APOB48R	16p12.1	apolipoprotein B receptor	Apolipoprotein B48 receptor is a macrophage receptor that binds to the apolipoprotein B48 of dietary triglyceride (TG)-rich lipoproteins. This receptor may provide essential lipids, lipid-soluble vitamins and other nutrients to reticuloendothelial cells. If overwhelmed with elevated plasma triglyceride, the apolipoprotein B48 receptor may contribute to foam cell formation, endothelial dysfunction, and atherothrombogenesis. [provided by RefSeq, Jul 2008]
APOC1	chr19	44914247	44919349	+	ENSG00000130208.9	protein_coding	Apo-CI|ApoC-I|apo-CIB|apoC-IB	19q13.32	apolipoprotein C1	This gene encodes a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. The encoded protein plays a central role in high density lipoprotein (HDL) and very low density lipoprotein (VLDL) metabolism. This protein has also been shown to inhibit cholesteryl ester transfer protein in plasma. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Sep 2016]
APOC1P1	chr19	44926804	44931386	+	ENSG00000214855.9	transcribed_unprocessed_pseudogene	-	19q13.32	apolipoprotein C1 pseudogene 1	-
APOC2	chr19	44945982	44949565	+	ENSG00000234906.9	protein_coding	APO-CII|APOC-II	19q13.32	apolipoprotein C2	This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is secreted in plasma where it is a component of very low density lipoprotein. This protein activates the enzyme lipoprotein lipase, which hydrolyzes triglycerides and thus provides free fatty acids for cells. Mutations in this gene cause hyperlipoproteinemia type IB, characterized by hypertriglyceridemia, xanthomas, and increased risk of pancreatitis and early atherosclerosis. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring upstream apolipoprotein C-IV (APOC4) gene. [provided by RefSeq, Mar 2011]
APOC3	chr11	116829706	116833072	+	ENSG00000110245.11	protein_coding	APOCIII	11q23.3	apolipoprotein C3	This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs through multiple modes. This protein has been shown to promote the secretion of VLDL1, inhibit lipoprotein lipase enzyme activity, and delay catabolism of TRL remnants. Mutations in this gene are associated with low plasma triglyceride levels and reduced risk of ischemic cardiovascular disease, and hyperalphalipoproteinemia, which is characterized by elevated levels of high density lipoprotein (HDL) and HDL cholesterol in human patients. This gene and other related genes comprise an apolipoprotein gene cluster on chromosome 11. [provided by RefSeq, Sep 2017]
APOC4	chr19	44942238	44945496	+	ENSG00000267467.3	protein_coding	APO-CIV|APOC-IV	19q13.32	apolipoprotein C4	This gene encodes a lipid-binding protein belonging to the apolipoprotein gene family. The protein is thought to play a role in lipid metabolism. Polymorphisms in this gene may influence circulating lipid levels and may be associated with coronary artery disease risk. This gene is present in a cluster with other related apolipoprotein genes on chromosome 19. Naturally occurring read-through transcription exists between this gene and the neighboring downstream apolipoprotein C-II (APOC2) gene. [provided by RefSeq, Mar 2011]
APOE	chr19	44905754	44909393	+	ENSG00000130203.9	protein_coding	AD2|APO-E|ApoE4|LDLCQ5|LPG	19q13.32	apolipoprotein E	The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016]
APOH	chr17	66212033	66256525	-	ENSG00000091583.10	protein_coding	B2G1|B2GP1|BG	17q24.2	apolipoprotein H	Apolipoprotein H, also known as beta-2-glycoprotein I, is a component of circulating plasma lipoproteins. It has been implicated in a variety of physiologic pathways including lipoprotein metabolism, coagulation, hemostasis, and the production of antiphospholipid autoantibodies. APOH may be a required cofactor for anionic phospholipid binding by the antiphospholipid autoantibodies found in sera of many patients with lupus and primary antiphospholipid syndrome (APS). The anti-beta (2) glycoprotein I antibodies from APS patients, mediate inhibition of activated protein C which has anticoagulant properties. Because beta-2-GPI is the main autoantigen in patients with APS, the disruption of this pathway by autoantibodies may be an important mechanism for thrombosis in patients with APS.[provided by RefSeq, Dec 2019]
APOL1	chr22	36253010	36267530	+	ENSG00000100342.20	protein_coding	APO-L|APOL|APOL-I|FSGS4	22q12.3	apolipoprotein L1	This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
APOL2	chr22	36226203	36239954	-	ENSG00000128335.13	protein_coding	APOL-II|APOL3	22q12.3	apolipoprotein L2	This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
APOLD1	chr12	12725917	12829975	+	ENSG00000178878.12	protein_coding	VERGE	12p13.1	apolipoprotein L domain containing 1	APOLD1 is an endothelial cell early response protein that may play a role in regulation of endothelial cell signaling and vascular function (Regard et al., 2004 [PubMed 15102925]).[supplied by OMIM, Dec 2008]
APOM	chr6	31652416	31658210	+	ENSG00000204444.10	protein_coding	G3a|HSPC336|NG20|apo-M	6p21.33	apolipoprotein M	The protein encoded by this gene is an apolipoprotein and member of the lipocalin protein family. It is found associated with high density lipoproteins and to a lesser extent with low density lipoproteins and triglyceride-rich lipoproteins. The encoded protein is secreted through the plasma membrane but remains membrane-bound, where it is involved in lipid transport. Alternate splicing results in both coding and non-coding variants of this gene. [provided by RefSeq, Jan 2012]
APPBP2	chr17	60443149	60526219	-	ENSG00000062725.9	protein_coding	APP-BP2|HS.84084|PAT1	17q23.2	amyloid beta precursor protein binding protein 2	The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimers disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
APPL1	chr3	57227737	57273468	+	ENSG00000157500.10	protein_coding	APPL|DIP13alpha|MODY14	3p14.3	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1	The protein encoded by this gene has been shown to be involved in the regulation of cell proliferation, and in the crosstalk between the adiponectin signalling and insulin signalling pathways. The encoded protein binds many other proteins, including RAB5A, DCC, AKT2, PIK3CA, adiponectin receptors, and proteins of the NuRD/MeCP1 complex. This protein is found associated with endosomal membranes, but can be released by EGF and translocated to the nucleus. [provided by RefSeq, Jul 2008]
APPL2	chr12	105173296	105236238	-	ENSG00000136044.11	protein_coding	DIP13B	12q23.3	adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2	The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]
APRG1	chr3	 37381077	37435497	+	ENSG00000198590	ncRNA	C3orf35	3p22.2	APRG1 tumor suppressor candidate	-
APRT	chr16	88809339	88811944	-	ENSG00000198931.10	protein_coding	AMP|APRTD	16q24.3	adenine phosphoribosyltransferase	Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
APTR	chr7	77657660	77696265	-	ENSG00000214293.8	lincRNA	RSBN1L-AS1	7q11.23	Alu-mediated CDKN1A/p21 transcriptional regulator	Ubiquitous expression in thyroid (RPKM 5.3), testis (RPKM 4.2) and 25 other tissues
APTX	chr9	32972606	33025168	-	ENSG00000137074.18	protein_coding	AOA|AOA1|AXA1|EAOH|EOAHA|FHA-HIT	9p21.1	aprataxin	This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]
AQP1	chr7	30911694	30925516	+	ENSG00000240583.11	protein_coding	AQP-CHIP|CHIP28|CO	7p14.3	aquaporin 1 (Colton blood group)	This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders involving imbalance in ocular fluid movement. [provided by RefSeq, Aug 2016]
AQP11	chr11	77589391	77610355	+	ENSG00000178301.3	protein_coding	AQPX1	11q14.1	aquaporin 11	Biased expression in duodenum (RPKM 12.3), small intestine (RPKM 11.2) and 11 other tissues
AQP12A	chr2	240691845	240698483	+	ENSG00000184945.13	protein_coding	AQP-12|AQP12|AQPX2	2q37.3	aquaporin 12A	Predicted to enable channel activity. Predicted to be involved in transmembrane transport. Predicted to be integral component of membrane. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
AQP2	chr12	49950741	49958881	+	ENSG00000167580.7	protein_coding	AQP-CD|NDI2|WCH-CD	12q13.12	aquaporin 2	This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]
AQP3	chr9	33441154	33447611	-	ENSG00000165272.14	protein_coding	AQP-3|GIL	9p13.3	aquaporin 3 (Gill blood group)	This gene encodes the water channel protein aquaporin 3. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein, also known as aquaporin 0. Aquaporin 3 is localized at the basal lateral membranes of collecting duct cells in the kidney. In addition to its water channel function, aquaporin 3 has been found to facilitate the transport of nonionic small solutes such as urea and glycerol, but to a smaller degree. It has been suggested that water channels can be functionally heterogeneous and possess water and solute permeation mechanisms. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
AQP4	chr18	26852038	26865818	-	ENSG00000171885.13	protein_coding	MIWC|WCH4	18q11.2	aquaporin 4	This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. Additional isoforms, resulting from the use of alternative in-frame translation initiation codons, have also been described. Recent studies provided evidence for translational readthrough in this gene, and expression of C-terminally extended isoforms via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]
AQP5	chr12	49961870	49965681	+	ENSG00000161798.6	protein_coding	AQP-5|PPKB	12q13.12	aquaporin 5	Aquaporin 5 (AQP5) is a water channel protein.  Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq, Jul 2008]
AQP6	chr12	49967194	49977139	+	ENSG00000086159.12	protein_coding	AQP2L|KID	12q13.12	aquaporin 6	The protein encoded by this gene is an aquaporin protein, which functions as a water channel in cells. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). This protein is specific for the kidney. This gene and related family members AQP0, AQP2, and AQP5 reside in a cluster on chromosome 12q13. [provided by RefSeq, Jul 2008]
AQP7P1	chr9	63317067	63333091	-	ENSG00000186466.5	unprocessed_pseudogene	bA251O17.3	9q13	aquaporin 7 pseudogene 1	-
AQP9	chr15	58138169	58185911	+	ENSG00000103569.9	protein_coding	AQP-9|HsT17287|SSC1|T17287	15q21.3	aquaporin 9	The aquaporins are a family of water-selective membrane channels. This gene encodes a member of a subset of aquaporins called the aquaglyceroporins. This protein allows passage of a broad range of noncharged solutes and also stimulates urea transport and osmotic water permeability. This protein may also facilitate the uptake of glycerol in hepatic tissue . The encoded protein may also play a role in specialized leukocyte functions such as immunological response and bactericidal activity. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
ARAP1	chr11	72685069	72793599	-	ENSG00000186635.14	protein_coding	CENTD2	11q13.4	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
ARAP1-AS1	chr11	72685075	72693808	+	ENSG00000256007.1	antisense	-	11q13.4	ARAP1 antisense RNA 1	-
ARAP1-AS2	chr11	72700474	72705607	+	ENSG00000245148.2	antisense	-	11q13.4	ARAP1 antisense RNA 2	-
ARAP2	chr4	35948221	36244509	-	ENSG00000047365.11	protein_coding	CENTD1|PARX	4p14	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	The protein encoded by this gene contains ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology domains. The protein is a phosphatidylinositol (3,4,5)-trisphosphate-dependent Arf6 GAP that binds RhoA-GTP, but it lacks the predicted catalytic arginine in the RHO-GAP domain and does not have RHO-GAP activity. The protein associates with focal adhesions and functions downstream of RhoA to regulate focal adhesion dynamics. [provided by RefSeq, Sep 2008]
ARAP3	chr5	141653401	141682221	-	ENSG00000120318.15	protein_coding	CENTD3|DRAG1	5q31.3	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. An alternatively spliced transcript has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Sep 2015]
ARC	chr8	142611044	142614472	-	ENSG00000198576.3	protein_coding	Arg3.1|hArc	8q24.3	activity regulated cytoskeleton associated protein	Biased expression in adrenal (RPKM 5.5), brain (RPKM 5.4) and 9 other tissues
ARCN1	chr11	118572390	118603033	+	ENSG00000095139.13	protein_coding	COPD|SRMMD	11q23.3	archain 1	This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq, Jul 2008]
AREL1	chr14	74653437	74713115	-	ENSG00000119682.16	protein_coding	FIEL1|KIAA0317	14q24.3	apoptosis resistant E3 ubiquitin protein ligase 1	Ubiquitous expression in testis (RPKM 15.1), thyroid (RPKM 12.5) and 25 other tissues
ARF1	chr1	228082660	228099212	+	ENSG00000143761.15	protein_coding	PVNH8	1q42.13	ADP ribosylation factor 1	ADP-ribosylation factor 1 (ARF1) is a member of the human ARF gene family. The family members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking as activators of phospholipase D. The gene products, including 6 ARF proteins and 11 ARF-like proteins, constitute a family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2 and ARF3), class II (ARF4 and ARF5) and class III (ARF6), and members of each class share a common gene organization. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
ARF3	chr12	48935723	48957551	-	ENSG00000134287.9	protein_coding	-	12q13.12	ADP ribosylation factor 3	Ubiquitous expression in brain (RPKM 69.0), colon (RPKM 28.8) and 24 other tissues
ARF4	chr3	57571363	57598220	-	ENSG00000168374.10	protein_coding	ARF2	3p14.3	ADP ribosylation factor 4	This gene is a member of the human ARF gene family whose members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 5 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I, class II and class III; this gene is a class II member. The members of each class share a common gene organization. The ARF4 gene spans approximately 12kb and contains six exons and five introns. This gene is the most divergent member of the human ARFs. Conflicting map positions at 3p14 or 3p21 have been reported for this gene. [provided by RefSeq, Jul 2008]
ARF4-AS1	chr3	57597715	57600927	+	ENSG00000272146.5	antisense	-	3p14.3	ARF4 antisense RNA 1	-
ARF5	chr7	127588345	127591705	+	ENSG00000004059.10	protein_coding	-	7q32.1	ADP ribosylation factor 5	Ubiquitous expression in esophagus (RPKM 84.6), skin (RPKM 63.4) and 25 other tissues
ARFGAP1	chr20	63272785	63289793	+	ENSG00000101199.12	protein_coding	ARF1GAP|HRIHFB2281	20q13.33	ADP ribosylation factor GTPase activating protein 1	The protein encoded by this gene is a GTPase-activating protein, which associates with the Golgi apparatus and which interacts with ADP-ribosylation factor 1. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1-bound GTP and is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is required for the fusion of these vesicles with target compartments. The activity of this protein is stimulated by phosphoinosides and inhibited by phosphatidylcholine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
ARFGAP2	chr11	47164299	47177125	-	ENSG00000149182.14	protein_coding	IRZ|NBLA10535|ZFP289|ZNF289	11p11.2	ADP ribosylation factor GTPase activating protein 2	Ubiquitous expression in skin (RPKM 24.0), brain (RPKM 23.0) and 25 other tissues
ARFGAP3	chr22	42796502	42858106	-	ENSG00000242247.10	protein_coding	ARFGAP1	22q13.2	ADP ribosylation factor GTPase activating protein 3	The protein encoded by this gene is a GTPase-activating protein (GAP) that associates with the Golgi apparatus and regulates the early secretory pathway of proteins. The encoded protein promotes hydrolysis of ADP-ribosylation factor 1 (ARF1)-bound GTP, which is required for the dissociation of coat proteins from Golgi-derived membranes and vesicles. Dissociation of the coat proteins is a prerequisite for the fusion of these vesicles with target compartments. The activity of this protein is sensitive to phospholipids. Multiple transcript variants encoding different isoforms have been found for this gene. This gene was originally known as ARFGAP1, but that is now the name of a related but different gene. [provided by RefSeq, Nov 2008]
ARFGEF1	chr8	67173511	67343677	-	ENSG00000066777.8	protein_coding	ARFGEP1|BIG1|P200	8q13.2	ADP ribosylation factor guanine nucleotide exchange factor 1	ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]
ARFGEF2	chr20	48921890	49036693	+	ENSG00000124198.8	protein_coding	BIG2|PVNH2|dJ1164I10.1	20q13.13	ADP ribosylation factor guanine nucleotide exchange factor 2	ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008]
ARFIP1	chr4	152779937	152918463	+	ENSG00000164144.15	protein_coding	HSU52521	4q31.3	ADP ribosylation factor interacting protein 1	Ubiquitous expression in gall bladder (RPKM 8.9), colon (RPKM 8.5) and 25 other tissues
ARFRP1	chr20	63698642	63708025	-	ENSG00000101246.19	protein_coding	ARL18|ARP|Arp1	20q13.33	ADP ribosylation factor related protein 1	The protein encoded by this gene is a membrane-associated GTP-ase which localizes to the plasma membrane and is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) proteins. This gene plays a role in membrane trafficking between the trans-Golgi network and endosomes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]
ARG1	chr6	131573144	131584332	+	ENSG00000118520.14	protein_coding	-	6q23.2	arginase 1	Biased expression in liver (RPKM 237.4), bone marrow (RPKM 81.9) and 1 other tissue
ARG2	chr14	67619798	67651720	+	ENSG00000081181.7	protein_coding	-	14q24.1	arginase 2	Broad expression in thyroid (RPKM 94.3), prostate (RPKM 64.4) and 23 other tissues
ARGLU1	chr13	106541673	106568164	-	ENSG00000134884.13	protein_coding	-	13q33.3	arginine and glutamate rich 1	-
ARHGAP1	chr11	46677080	46700615	-	ENSG00000175220.11	protein_coding	CDC42GAP|RHOGAP|RHOGAP1|p50rhoGAP	11p11.2	Rho GTPase activating protein 1	This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein contains a SRC homology 3 domain and interacts with Bcl-2-associated protein family members. [provided by RefSeq, Aug 2012]
ARHGAP10	chr4	147732063	148072780	+	ENSG00000071205.11	protein_coding	GRAF2|PS-GAP|PSGAP	4q31.23	Rho GTPase activating protein 10	Ubiquitous expression in esophagus (RPKM 17.3), ovary (RPKM 10.9) and 23 other tissues
ARHGAP11A	chr15	32615144	32639949	+	ENSG00000198826.10	protein_coding	GAP (1-12)	15q13.3	Rho GTPase activating protein 11A	This gene encodes a member of the Rho GTPase activating protein family. In response to DNA damage, the encoded protein interacts with the p53 tumor suppressor protein and stimulates its tetramerization, which results in cell-cycle arrest and apoptosis. A chromosomal deletion that includes this gene is one cause of Prader-Willi syndrome, and an intronic variant of this gene may be associated with sleep duration in children. This gene is highly expressed in colon cancers and in a human basal-like breast cancer cell line. This gene also produces a ARHGAP11A-SCG5 readthrough transcript and ARHGAP11A-SCG5 protein. [provided by RefSeq, Feb 2019]
ARHGAP11B	chr15	30624494	30772993	+	ENSG00000187951.10	protein_coding	B'-T|FAM7B1|GAP (1-8)	15q13.2	Rho GTPase activating protein 11B	Broad expression in bone marrow (RPKM 7.6), lymph node (RPKM 4.9) and 16 other tissues
ARHGAP12	chr10	31805404	31928876	-	ENSG00000165322.17	protein_coding	-	10p11.22	Rho GTPase activating protein 12	Ubiquitous expression in stomach (RPKM 14.4), brain (RPKM 12.6) and 25 other tissues
ARHGAP15	chr2	143091362	143768352	+	ENSG00000075884.13	protein_coding	BM046	2q22.2-q22.3	Rho GTPase activating protein 15	RHO GTPases (see ARHA; MIM 165390) regulate diverse biologic processes, and their activity is regulated by RHO GTPase-activating proteins (GAPs), such as ARHGAP15 (Seoh et al., 2003 [PubMed 12650940]).[supplied by OMIM, Mar 2008]
ARHGAP17	chr16	24919385	25015666	-	ENSG00000140750.16	protein_coding	MST066|MST110|MSTP038|MSTP066|MSTP110|NADRIN|PP367|PP4534|RICH-1|RICH1|WBP15	16p12.1	Rho GTPase activating protein 17	RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004]
ARHGAP19	chr10	97222173	97292673	-	ENSG00000213390.10	protein_coding	-	10q24.1	Rho GTPase activating protein 19	Broad expression in testis (RPKM 13.6), bone marrow (RPKM 8.1) and 24 other tissues
ARHGAP19-SLIT1	chr10	97153045	97292637	-	ENSG00000269891.2	protein_coding	ARHGAP19	10q24.1	ARHGAP19-SLIT1 readthrough (NMD candidate)	This locus represents naturally occurring read-through transcription between the neighboring Rho GTPase activating protein 19 (ARHGAP19) and slit homolog 1 (SLIT1) genes on chromosome 10. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011]
ARHGAP20	chr11	110577042	110713189	-	ENSG00000137727.12	protein_coding	RARHOGAP	11q22.3-q23.1	Rho GTPase activating protein 20	The protein encoded by this gene is an activator of RHO-type GTPases, transducing a signal from RAP1 to RHO and impacting neurite outgrowth. [provided by RefSeq, Sep 2016]
ARHGAP21	chr10	24583609	24723668	-	ENSG00000107863.17	protein_coding	ARHGAP10	10p12.1|10p12.3	Rho GTPase activating protein 21	ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).[supplied by OMIM, Mar 2008]
ARHGAP22	chr10	48446034	48656265	-	ENSG00000128805.14	protein_coding	RhoGAP2|RhoGap22	10q11.22-q11.23	Rho GTPase activating protein 22	This gene encodes a member of the GTPase activating protein family which activates a GTPase belonging to the RAS superfamily of small GTP-binding proteins. The encoded protein is insulin-responsive, is dependent on the kinase Akt and requires the Akt-dependent 14-3-3 binding protein which binds sequentially to two serine residues. The result of these interactions is regulation of cell motility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
ARHGAP23	chr17	38419280	38512392	+	ENSG00000275832.4	protein_coding	-	17q12	Rho GTPase activating protein 23	Broad expression in skin (RPKM 13.7), brain (RPKM 13.2) and 22 other tissues
ARHGAP24	chr4	85475114	86002670	+	ENSG00000138639.17	protein_coding	FILGAP|RC-GAP72|RCGAP72|p73|p73RhoGAP	4q21.23-q21.3	Rho GTPase activating protein 24	This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
ARHGAP25	chr2	68679601	68826833	+	ENSG00000163219.11	protein_coding	HEL-S-308|KAIA0053	2p13.3	Rho GTPase activating protein 25	ARHGAPs, such as ARHGAP25, encode negative regulators of Rho GTPases (see ARHA; MIM 165390), which are implicated in actin remodeling, cell polarity, and cell migration (Katoh and Katoh, 2004 [PubMed 15254788]).[supplied by OMIM, Mar 2008]
ARHGAP27	chr17	45393902	45434421	-	ENSG00000159314.11	protein_coding	CAMGAP1|PP905|SH3D20|SH3P20	17q21.31	Rho GTPase activating protein 27	This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may pay a role in clathrin-mediated endocytosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2013]
ARHGAP28	chr18	6729718	6915716	+	ENSG00000088756.12	protein_coding	-	18p11.31	Rho GTPase activating protein 28	-
ARHGAP29	chr1	94148988	94275068	-	ENSG00000137962.12	protein_coding	PARG1	1p22.1	Rho GTPase activating protein 29	Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for Rap1-induced inhibition of Rho signaling. Defects in this gene may be a cause of nonsyndromic cleft lip with or without cleft palate. [provided by RefSeq, Jun 2016]
ARHGAP30	chr1	161046946	161069970	-	ENSG00000186517.13	protein_coding	-	1q23.3	Rho GTPase activating protein 30	-
ARHGAP32	chr11	128965060	129279324	-	ENSG00000134909.18	protein_coding	GC-GAP|GRIT|PX-RICS|RICS|p200RhoGAP|p250GAP	11q24.3	Rho GTPase activating protein 32	RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008]
ARHGAP33	chr19	35774532	35788822	+	ENSG00000004777.18	protein_coding	NOMA-GAP|SNX26|TCGAP	19q13.12	Rho GTPase activating protein 33	This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]
ARHGAP39	chr8	144529179	144605816	-	ENSG00000147799.11	protein_coding	CrGAP|Vilse	8q24.3	Rho GTPase activating protein 39	Broad expression in testis (RPKM 5.1), brain (RPKM 1.6) and 17 other tissues
ARHGAP4	chrX	153907367	153934999	-	ENSG00000089820.15	protein_coding	C1|RGC1|RhoGAP4|SrGAP4|p115	Xq28	Rho GTPase activating protein 4	This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
ARHGAP40	chr20	38601934	38651035	+	ENSG00000124143.10	protein_coding	C20orf95|dJ1100H13.4	20q11.23	Rho GTPase activating protein 40	Biased expression in skin (RPKM 12.2), esophagus (RPKM 3.7) and 4 other tissues
ARHGAP42	chr11	100687653	100991937	+	ENSG00000165895.17	protein_coding	AD031|GRAF3|TMEM133	11q22.1	Rho GTPase activating protein 42	This gene encodes a Rho GTPase-activating protein (RhoGAP), and member of the GRAF or BAR-PH family of proteins. Expression of this gene is enriched in vascular smooth muscle cells and the encoded protein inhibits RhoA activity to regulate vascular tone and control blood pressure. A mutation in the first intron of this gene modulates its expression and is associated with reduced blood pressure in human patients with borderline hypertension. [provided by RefSeq, Jul 2017]
ARHGAP44	chr17	12789539	12991643	+	ENSG00000006740.16	protein_coding	NPC-A-10|RICH2	17p12	Rho GTPase activating protein 44	Enables phospholipid binding activity. Predicted to be involved in several processes, including modification of dendritic spine; negative regulation of Rac protein signal transduction; and regulation of plasma membrane bounded cell projection organization. Located in leading edge membrane. [provided by Alliance of Genome Resources, Apr 2022]
ARHGAP45	chr19	1065923	1086628	+	ENSG00000180448.10	protein_coding	HA-1|HLA-HA1|HMHA1	19p13.3	Rho GTPase activating protein 45	Broad expression in spleen (RPKM 23.6), bone marrow (RPKM 17.0) and 22 other tissues
ARHGAP9	chr12	57472255	57488814	-	ENSG00000123329.17	protein_coding	10C|RGL1	12q13.3	Rho GTPase activating protein 9	This gene encodes a member of the Rho-GAP family of GTPase activating proteins. The protein has substantial GAP activity towards several Rho-family GTPases in vitro, converting them to an inactive GDP-bound state. It is implicated in regulating adhesion of hematopoietic cells to the extracellular matrix. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ARHGDIA	chr17	81867721	81871406	-	ENSG00000141522.11	protein_coding	GDIA1|HEL-S-47e|NPHS8|RHOGDI|RHOGDI-1	17q25.3	Rho GDP dissociation inhibitor alpha	This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
ARHGDIB	chr12	14942017	14961728	-	ENSG00000111348.8	protein_coding	D4|GDIA2|GDID4|LYGDI|Ly-GDI|RAP1GN1|RhoGDI2	12p12.3	Rho GDP dissociation inhibitor beta	Members of the Rho (or ARH) protein family (see MIM 165390) and other Ras-related small GTP-binding proteins (see MIM 179520) are involved in diverse cellular events, including cell signaling, proliferation, cytoskeletal organization, and secretion. The GTP-binding proteins are active only in the GTP-bound state. At least 3 classes of proteins tightly regulate cycling between the GTP-bound and GDP-bound states: GTPase-activating proteins (GAPs), guanine nucleotide-releasing factors (GRFs), and GDP-dissociation inhibitors (GDIs). The GDIs, including ARHGDIB, decrease the rate of GDP dissociation from Ras-like GTPases (summary by Scherle et al., 1993 [PubMed 8356058]).[supplied by OMIM, Dec 2010]
ARHGDIG	chr16	268727	283010	+	ENSG00000242173.8	protein_coding	RHOGDI-3	16p13.3	Rho GDP dissociation inhibitor gamma	The GDP-dissociation inhibitors (GDIs) play a primary role in modulating the activation of GTPases by inhibiting the exchange of GDP for GTP. See ARHGDIB (MIM 602843).[supplied by OMIM, Nov 2010]
ARHGEF1	chr19	41883161	41930150	+	ENSG00000076928.17	protein_coding	GEF1|IMD62|LBCL2|LSC|P115-RHOGEF|SUB1.5	19q13.2	Rho guanine nucleotide exchange factor 1	Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]
ARHGEF10	chr8	1823976	1958641	+	ENSG00000104728.15	protein_coding	GEF10|SNCV	8p23.3	Rho guanine nucleotide exchange factor 10	This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
ARHGEF10L	chr1	17539835	17697874	+	ENSG00000074964.16	protein_coding	GrinchGEF	1p36.13	Rho guanine nucleotide exchange factor 10 like	This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016]
ARHGEF11	chr1	156934840	157045370	-	ENSG00000132694.18	protein_coding	GTRAP48|PDZ-RHOGEF	1q23.1	Rho guanine nucleotide exchange factor 11	Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
ARHGEF12	chr11	120336914	120489936	+	ENSG00000196914.8	protein_coding	LARG|PRO2792	11q23.3	Rho guanine nucleotide exchange factor 12	Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
ARHGEF15	chr17	8310241	8322516	+	ENSG00000198844.10	protein_coding	ARGEF15|E5|Ephexin5|Vsm-RhoGEF	17p13.1	Rho guanine nucleotide exchange factor 15	Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein-coupled receptors. This gene encodes a protein that functions as a specific guanine nucleotide exchange factor for RhoA. It also interacts with ephrin A4 in vascular smooth muscle cells. Two alternatively spliced transcripts variants that encode the same protein have been found for this gene. [provided by RefSeq, Aug 2010]
ARHGEF16	chr1	3454426	3481113	+	ENSG00000130762.14	protein_coding	GEF16|NBR	1p36.32	Rho guanine nucleotide exchange factor 16	Although the specific function of this protein is not known yet, it is thought to be involved in protein-protein and protein-lipid interactions. [provided by RefSeq, Jul 2008]
ARHGEF17	chr11	73308289	73369091	+	ENSG00000110237.3	protein_coding	P164RHOGEF|RHOGEF17|TEM4|p164-RhoGEF	11q13.4	Rho guanine nucleotide exchange factor 17	Ubiquitous expression in endometrium (RPKM 12.7), fat (RPKM 10.8) and 24 other tissues
ARHGEF18	chr19	7395113	7472477	+	ENSG00000104880.17	protein_coding	P114-RhoGEF|RP78|SA-RhoGEF|p114RhoGEF	19p13.2	Rho/Rac guanine nucleotide exchange factor 18	Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GEF family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2018]
ARHGEF19	chr1	16197854	16212609	-	ENSG00000142632.16	protein_coding	WGEF	1p36.13	Rho guanine nucleotide exchange factor 19	Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM, Dec 2008]
ARHGEF2	chr1	155946851	156007070	-	ENSG00000116584.17	protein_coding	GEF|GEF-H1|GEFH1|LFP40|Lfc|NEDMHM|P40	1q22	Rho/Rac guanine nucleotide exchange factor 2	Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]
ARHGEF25	chr12	57610180	57619379	+	ENSG00000240771.6	protein_coding	GEFT|p63RhoGEF	12q13.3	Rho guanine nucleotide exchange factor 25	Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which interacts with Rho GTPases involved in contraction of vascular smooth muscles, regulation of responses to angiotensin II and lens cell differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
ARHGEF26	chr3	154121003	154257827	+	ENSG00000114790.12	protein_coding	CSGEF|HMFN1864|SGEF	3q25.2	Rho guanine nucleotide exchange factor 26	This gene encodes a member of the Rho-guanine nucleotide exchange factor (Rho-GEF) family. These proteins regulate Rho GTPases by catalyzing the exchange of GDP for GTP. The encoded protein specifically activates RhoG and plays a role in the promotion of macropinocytosis. Underexpression of the encoded protein may be a predictive marker of chemoresistant disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
ARHGEF26-AS1	chr3	154024401	154121332	-	ENSG00000243069.7	processed_transcript	-	3q25.2	ARHGEF26 antisense RNA 1	-
ARHGEF28	chr5	73626158	73941993	+	ENSG00000214944.9	protein_coding	RGNEF|RIP2|p190RHOGEF	5q13.2	Rho guanine nucleotide exchange factor 28	This gene encodes a member of the Rho guanine nucleotide exchange factor family. The encoded protein interacts with low molecular weight neurofilament mRNA and may be involved in the formation of amyotrophic lateral sclerosis neurofilament aggregates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
ARHGEF3	chr3	56727418	57079329	-	ENSG00000163947.11	protein_coding	GEF3|STA3|XPLN	3p14.3	Rho guanine nucleotide exchange factor 3	Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ARHGEF33	chr2	38889880	38975449	+	ENSG00000214694.10	protein_coding	-	2p22.1	Rho guanine nucleotide exchange factor 33	-
ARHGEF35	chr7	144186083	144195655	-	ENSG00000213214.4	protein_coding	ARHGEF5L	7q35	Rho guanine nucleotide exchange factor 35	Broad expression in thyroid (RPKM 25.8), colon (RPKM 15.5) and 22 other tissues
ARHGEF37	chr5	149551947	149634968	+	ENSG00000183111.11	protein_coding	-	5q32	Rho guanine nucleotide exchange factor 37	-
ARHGEF39	chr9	35658875	35675866	-	ENSG00000137135.17	protein_coding	C9orf100	9p13.3	Rho guanine nucleotide exchange factor 39	Predicted to enable guanyl-nucleotide exchange factor activity. Involved in positive regulation of cell migration. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
ARHGEF4	chr2	130836916	131047263	+	ENSG00000136002.18	protein_coding	ASEF|ASEF1|GEF4|SMIM39|STM6	2q21.1	Rho guanine nucleotide exchange factor 4	Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jun 2013]
ARHGEF40	chr14	21070270	21090240	+	ENSG00000165801.9	protein_coding	SOLO	14q11.2	Rho guanine nucleotide exchange factor 40	This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts that encode different proteins have been described. [provided by RefSeq, Mar 2014]
ARHGEF5	chr7	144355288	144380632	+	ENSG00000050327.14	protein_coding	GEF5|P60|TIM|TIM1	7q35	Rho guanine nucleotide exchange factor 5	Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008]
ARHGEF6	chrX	136665547	136782088	-	ENSG00000129675.15	protein_coding	COOL2|Cool-2|MRX46|PIXA|alpha-PIX|alphaPIX	Xq26.3	Rac/Cdc42 guanine nucleotide exchange factor 6	Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific cognitive disability. [provided by RefSeq, Jul 2008]
ARHGEF7	chr13	111114559	111305737	+	ENSG00000102606.17	protein_coding	BETA-PIX|COOL-1|COOL1|Nbla10314|P50|P50BP|P85|P85COOL1|P85SPR|PAK3|PIXB	13q34	Rho guanine nucleotide exchange factor 7	This gene encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Mar 2016]
ARHGEF7-AS1	chr13	111144305	111144733	-	ENSG00000227352.1	antisense	-	13q34	ARHGEF7 antisense RNA 1	-
ARID1A	chr1	26693236	26782104	+	ENSG00000117713.18	protein_coding	B120|BAF250|BAF250a|BM029|C1orf4|CSS2|ELD|MRD14|OSA1|P270|SMARCF1|hELD|hOSA1	1p36.11	AT-rich interaction domain 1A	This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ARID2	chr12	45729665	45908040	+	ENSG00000189079.15	protein_coding	BAF200|CSS6|SMARCF3|p200	12q12	AT-rich interaction domain 2	This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and chromatin structure modification. This protein functions as a subunit of the polybromo- and BRG1-associated factor or PBAF (SWI/SNF-B) chromatin remodeling complex which facilitates ligand-dependent transcriptional activation by nuclear receptors. Mutations in this gene are associated with hepatocellular carcinomas. A pseudogene of this gene is found on chromosome1. [provided by RefSeq, Dec 2016]
ARID3A	chr19	925781	975934	+	ENSG00000116017.10	protein_coding	BRIGHT|DRIL1|DRIL3|E2FBP1	19p13.3	AT-rich interaction domain 3A	This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA binding proteins. It was found by homology to the Drosophila dead ringer gene, which is important for normal embryogenesis. Other ARID family members have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation, and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]
ARID3B	chr15	74541177	74598131	+	ENSG00000179361.17	protein_coding	BDP|DRIL2	15q24.1	AT-rich interaction domain 3B	This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA-binding proteins. The encoded protein is homologous with two proteins that bind to the retinoblastoma gene product, and also with the mouse Bright and Drosophila dead ringer proteins. A pseudogene on chromosome 1p31 exists for this gene. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [provided by RefSeq, Jul 2008]
ARID3C	chr9	34621379	34628107	-	ENSG00000205143.2	protein_coding	-	9p13.3	AT-rich interaction domain 3C	Low expression observed in reference dataset
ARID4A	chr14	58298385	58373887	+	ENSG00000032219.18	protein_coding	RBBP-1|RBBP1|RBP-1|RBP1	14q23.1	AT-rich interaction domain 4A	The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008]
ARID4B	chr1	235131634	235328219	-	ENSG00000054267.21	protein_coding	BCAA|BRCAA1|RBBP1L1|RBP1L1|SAP180	1q42.3	AT-rich interaction domain 4B	This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependant SIN3A transcriptional corepressor complex, which functions in diverse cellular processes including proliferation, differentiation, apoptosis, oncogenesis, and cell fate determination. The gene product is recognized by IgG antibody isolated from a breast cancer patient and appears to be a molecular marker associated with a broad range of human malignancies. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]
ARID5A	chr2	96536743	96552638	+	ENSG00000196843.15	protein_coding	MRF-1|MRF1|RP11-363D14	2q11.2	AT-rich interaction domain 5A	Members of the ARID protein family, including ARID5A, have diverse functions but all appear to play important roles in development, tissue-specific gene expression, and regulation of cell growth (Patsialou et al., 2005 [PubMed 15640446]).[supplied by OMIM, Mar 2008]
ARID5B	chr10	61901300	62096944	+	ENSG00000150347.14	protein_coding	DESRT|MRF-2|MRF2	10q21.2	AT-rich interaction domain 5B	This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
ARIH1	chr15	72474326	72602985	+	ENSG00000166233.14	protein_coding	ARI|HARI|HHARI|UBCH7BP	15q24.1	ariadne RBR E3 ubiquitin protein ligase 1	Ubiquitous expression in testis (RPKM 22.0), thyroid (RPKM 13.4) and 25 other tissues
ARIH2	chr3	48918821	48986382	+	ENSG00000177479.19	protein_coding	ARI2|TRIAD1	3p21.31	ariadne RBR E3 ubiquitin protein ligase 2	The protein encoded by this gene is an E3 ubiquitin-protein ligase that polyubiquitinates some proteins, tagging them for degradation. The encoded protein upregulates p53 in some cancer cells and may inhibit myelopoiesis. Several transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been determined yet. [provided by RefSeq, Nov 2015]
ARIH2OS	chr3	48917788	48919385	-	ENSG00000221883.2	protein_coding	C3orf71	3p21.31	ARIH2 opposite strand lncRNA	-
ARL1	chr12	101393120	101407820	-	ENSG00000120805.13	protein_coding	ARFL1	12q23.2	ADP ribosylation factor like GTPase 1	The protein encoded by this gene belongs to the ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulate intracellular vesicular membrane trafficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
ARL10	chr5	176365468	176401865	+	ENSG00000175414.6	protein_coding	ARL10A	5q35.2	ADP ribosylation factor like GTPase 10	Ubiquitous expression in brain (RPKM 2.9), ovary (RPKM 2.2) and 22 other tissues
ARL11	chr13	49628299	49633872	+	ENSG00000152213.3	protein_coding	ARLTS1	13q14.2	ADP ribosylation factor like GTPase 11	This gene encodes a tumor suppressor related to the ADP-ribosylation factor (ARF) family of proteins. The encoded protein may play a role in apoptosis in a caspase-dependent manner. Polymorphisms in this gene have been associated with some familial cancers. [provided by RefSeq, May 2010]
ARL13B	chr3	93980139	94055668	+	ENSG00000169379.15	protein_coding	ARL2L1|JBTS8	3q11.1-q11.2	ADP ribosylation factor like GTPase 13B	This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
ARL14	chr3	160677159	160678452	+	ENSG00000179674.3	protein_coding	ARF7	3q25.33	ADP ribosylation factor like GTPase 14	Predicted to enable GTP binding activity. Predicted to be involved in intracellular protein transport and vesicle-mediated transport. Predicted to be located in cytoplasmic vesicle. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
ARL14EP	chr11	30323051	30338227	+	ENSG00000152219.4	protein_coding	ARF7EP|C11orf46|dJ299F11.1	11p14.1	ADP ribosylation factor like GTPase 14 effector protein	The protein encoded by this gene is an effector protein. It interacts with ADP-ribosylation factor-like 14 [ARL14, also known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and actin-based motor protein myosin 1E (MYO1E). ARL14 is a small GTPase; it controls the export of major histocompatibility class II molecules by connecting to the actin network via this effector protein. [provided by RefSeq, Sep 2014]
ARL15	chr5	53883945	54310582	-	ENSG00000185305.10	protein_coding	ARFRP2	5q11.2	ADP ribosylation factor like GTPase 15	Ubiquitous expression in placenta (RPKM 11.3), gall bladder (RPKM 8.9) and 25 other tissues
ARL16	chr17	81681174	81683924	-	ENSG00000214087.8	protein_coding	-	17q25.3	ADP ribosylation factor like GTPase 16	Ubiquitous expression in kidney (RPKM 11.1), thyroid (RPKM 10.4) and 25 other tissues
ARL17A	chr17	46516702	46579682	-	ENSG00000185829.17	protein_coding	ARF1P2|ARL17P1	17q21.31	ADP ribosylation factor like GTPase 17A	Ubiquitous expression in lymph node (RPKM 3.4), appendix (RPKM 3.4) and 25 other tissues
ARL17B	chr17	46274784	46361797	-	ENSG00000228696.8	protein_coding	ARL17|ARL17A	17q21.31	ADP ribosylation factor like GTPase 17B	Ubiquitous expression in thyroid (RPKM 3.7), testis (RPKM 3.6) and 25 other tissues
ARL2	chr11	65014113	65022184	+	ENSG00000213465.7	protein_coding	ARFL2|MRCS1	11q13.1	ADP ribosylation factor like GTPase 2	This gene encodes a small GTP-binding protein of the RAS superfamily which functions as an ADP-ribosylation factor (ARF). The encoded protein is one of a functionally distinct group of ARF-like genes. [provided by RefSeq, Jul 2008]
ARL2BP	chr16	57245098	57253635	+	ENSG00000102931.7	protein_coding	BART|BART1|RP66	16q13	ADP ribosylation factor like GTPase 2 binding protein	ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinity but does not interact with ARL2.GDP, activated ARF, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific effector identified, due to its interaction with ARL2.GTP but lack of ARL2 GTPase-activating protein activity. [provided by RefSeq, Jul 2008]
ARL3	chr10	102673731	102714407	-	ENSG00000138175.8	protein_coding	ARFL3|JBTS35|RP83	10q24.32	ADP ribosylation factor like GTPase 3	ADP-ribosylation factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008]
ARL4A	chr7	12686856	12690934	+	ENSG00000122644.12	protein_coding	ARL4	7p21.3	ADP ribosylation factor like GTPase 4A	ADP-ribosylation factor-like 4A is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4A is similar to ARL4C and ARL4D and each has a nuclear localization signal and an unusually high guaninine nucleotide exchange rate. ARL4A is located in both the nuclear and extranuclear cell compartments. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
ARL4C	chr2	234493041	234497053	-	ENSG00000188042.7	protein_coding	ARL7|LAK	2q37.1	ADP ribosylation factor like GTPase 4C	ADP-ribosylation factor-like 4C is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4C is closely similar to ARL4A and ARL4D and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in cholesterol transport. [provided by RefSeq, Jul 2008]
ARL4D	chr17	43398959	43401137	+	ENSG00000175906.4	protein_coding	ARF4L	17q21.31	ADP ribosylation factor like GTPase 4D	ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. [provided by RefSeq, Jul 2021]
ARL5A	chr2	151788984	151828492	-	ENSG00000162980.16	protein_coding	ARFLP5|ARL5	2q23.3	ADP ribosylation factor like GTPase 5A	The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. With its distinctive nuclear/nucleolar localization and interaction with HP1alpha, the protein is developmentally regulated and may play a role(s) in nuclear dynamics and/or signaling cascades during embryonic development. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]
ARL5AP3	chr1	68049360	68049745	-	ENSG00000228431.1	processed_pseudogene	-	1p31.3	ARL5A pseudogene 3	-
ARL5B	chr10	18659405	18681639	+	ENSG00000165997.4	protein_coding	ARL8	10p12.31	ADP ribosylation factor like GTPase 5B	ARL5B (ARL8) belongs to a family of proteins that are structurally similar to ADP-ribosylation factors (ARFs; see MIM 103180). ARLs and ARFs are part of the RAS superfamily of regulatory GTPases.[supplied by OMIM, Nov 2010]
ARL5C	chr17	39156894	39167484	-	ENSG00000141748.12	protein_coding	ARL12	17q12	ADP ribosylation factor like GTPase 5C	Low expression observed in reference dataset
ARL6IP1	chr16	18791667	18801678	-	ENSG00000170540.14	protein_coding	AIP1|ARL6IP|ARMER|SPG61	16p12.3	ADP ribosylation factor like GTPase 6 interacting protein 1	This gene belongs to the ARL6ip family and encodes a transmembrane protein that is predominantly localized to intracytoplasmic membranes. It is highly expressed in early myeloid progenitor cells and thought to be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation. Mutations in this gene are associated with spastic paraplegia 61 (SPG61). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]
ARL6IP4	chr12	122980060	122982913	+	ENSG00000182196.13	protein_coding	SFRS20|SR-25|SRp25|SRrp37	12q24.31	ADP ribosylation factor like GTPase 6 interacting protein 4	Ubiquitous expression in fat (RPKM 37.6), kidney (RPKM 36.8) and 25 other tissues
ARL6IP5	chr3	69084944	69106066	+	ENSG00000144746.6	protein_coding	DERP11|GTRAP3-18|HSPC127|JWA|PRAF3|Yip6b|addicsin|hp22|jmx	3p14.1	ADP ribosylation factor like GTPase 6 interacting protein 5	Expression of this gene is affected by vitamin A. The encoded protein of this gene may be associated with the cytoskeleton. A similar protein in rats may play a role in the regulation of cell differentiation. The rat protein binds and inhibits the cell membrane glutamate transporter EAAC1. The expression of the rat gene is upregulated by retinoic acid, which results in a specific reduction in EAAC1-mediated glutamate transport. [provided by RefSeq, Jul 2008]
ARL6IP6	chr2	152717893	152761253	+	ENSG00000177917.10	protein_coding	AIP-6|AIP6|PFAAP1	2q23.3	ADP ribosylation factor like GTPase 6 interacting protein 6	Predicted to be located in nuclear inner membrane. [provided by Alliance of Genome Resources, Apr 2022]
ARL8A	chr1	202133404	202144743	-	ENSG00000143862.7	protein_coding	ARL10B|GIE2	1q32.1	ADP ribosylation factor like GTPase 8A	Ubiquitous expression in brain (RPKM 56.4), bone marrow (RPKM 24.8) and 25 other tissues
ARL8B	chr3	5122220	5180912	+	ENSG00000134108.12	protein_coding	ARL10C|Gie1	3p26.1	ADP ribosylation factor like GTPase 8B	Ubiquitous expression in brain (RPKM 48.8), thyroid (RPKM 43.1) and 25 other tissues
ARL9	chr4	56505209	56524448	+	ENSG00000196503.3	protein_coding	-	4q12	ADP ribosylation factor like GTPase 9	Biased expression in testis (RPKM 1.5), skin (RPKM 0.3) and 10 other tissues
ARLNC1	chr16	 80828735	80892596	-	ENSG00000260896	ncRNA	LINC02170|PRCAT47	16q23.2	androgen receptor regulated long noncoding RNA 1	Biased expression in prostate (RPKM 1.3), testis (RPKM 0.3) and 8 other tissues
ARMC1	chr8	65602456	65634217	-	ENSG00000104442.9	protein_coding	Arcp	8q13.1	armadillo repeat containing 1	Ubiquitous expression in brain (RPKM 13.7), endometrium (RPKM 11.5) and 25 other tissues
ARMC10	chr7	103074881	103099764	+	ENSG00000170632.13	protein_coding	PNAS-112|PNAS112|PSEC0198|SVH	7q22.1	armadillo repeat containing 10	This gene encodes a protein that contains an armadillo repeat and transmembrane domain. The encoded protein decreases the transcriptional activity of the tumor suppressor protein p53 through direct interaction with the DNA-binding domain of p53, and may play a role in cell growth and survival. Upregulation of this gene may play a role in hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Sep 2011]
ARMC12	chr6	35737032	35749079	+	ENSG00000157343.8	protein_coding	C6orf81	6p21.31	armadillo repeat containing 12	Biased expression in testis (RPKM 10.0), brain (RPKM 0.6) and 1 other tissue
ARMC2	chr6	108848416	108974472	+	ENSG00000118690.12	protein_coding	SPGF38|bA787I22.1	6q21	armadillo repeat containing 2	Broad expression in testis (RPKM 4.1), lung (RPKM 0.7) and 22 other tissues
ARMC3	chr10	22928024	23038523	+	ENSG00000165309.13	protein_coding	CT81|KU-CT-1	10p12.2	armadillo repeat containing 3	Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in signal transduction, development, cell adhesion and mobility, and tumor initiation and metastasis (Li et al., 2006 [PubMed 16915934]).[supplied by OMIM, Mar 2008]
ARMC5	chr16	31458080	31467166	+	ENSG00000140691.16	protein_coding	AIMAH2	16p11.2	armadillo repeat containing 5	This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
ARMC6	chr19	19033575	19060311	+	ENSG00000105676.13	protein_coding	R30923_1	19p13.11	armadillo repeat containing 6	The function of this genes protein product has not been determined. A related protein in mouse suggests that this protein has a conserved function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
ARMC7	chr17	75109952	75130265	+	ENSG00000125449.6	protein_coding	-	17q25.1	armadillo repeat containing 7	-
ARMC9	chr2	231198546	231374837	+	ENSG00000135931.17	protein_coding	ARM|JBTS30|KU-MEL-1|NS21	2q37.1	armadillo repeat containing 9	Broad expression in endometrium (RPKM 2.3), ovary (RPKM 1.9) and 22 other tissues
ARMCX2	chrX	101655281	101659891	-	ENSG00000184867.13	protein_coding	ALEX2|GASP9	Xq22.1	armadillo repeat containing X-linked 2	This gene encodes a protein containing a potential N-terminal transmembrane domain and multiple armadillo (arm) repeats. Proteins containing arm repeats are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is located in a cluster of related genes on chromosome X. There is a pseudogene for this gene on chromosome 7. Alternative splicing in the 5 UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013]
ARMCX6	chrX	101615118	101618001	-	ENSG00000198960.10	protein_coding	GASP10	Xq22.1	armadillo repeat containing X-linked 6	Ubiquitous expression in spleen (RPKM 13.9), endometrium (RPKM 12.8) and 25 other tissues
ARMH1	chr1	 44674714	44725591	+	ENSG00000198520	protein-coding	C1orf228|NCRNA00082|p40	1p34.1	armadillo like helical domain containing 1	Biased expression in bone marrow (RPKM 8.3), testis (RPKM 3.2) and 6 other tissues
ARMH2	chr6	 24797335	24798917	-	ENSG00000260286	protein-coding	C6orf229	6p22.3	armadillo like helical domain containing 2	Restricted expression toward testis (RPKM 5.4)
ARMH3	chr10	 101845599	102056173	-	ENSG00000120029	protein-coding	C10orf76	10q24.32	armadillo like helical domain containing 3	Ubiquitous expression in heart (RPKM 8.1), esophagus (RPKM 4.9) and 25 other tissues
ARMH4	chr14	 57993545	58152213	-	ENSG00000139971	protein-coding	C14orf37|UT2|c14_5376	14q23.1	armadillo like helical domain containing 4	Broad expression in kidney (RPKM 5.3), brain (RPKM 4.3) and 15 other tissues
ARMS2	chr10	122454653	122457352	+	ENSG00000254636.1	protein_coding	ARMD8	10q26.13	age-related maculopathy susceptibility 2	This gene encodes a small secreted protein specific to primates. This protein is a component of the choroidal extracellular matrix of the eye. Mutations in this gene are associated with age-related macular degeneration. [provided by RefSeq, Sep 2017]
ARMT1	chr6	151452258	151470101	+	ENSG00000146476.10	protein_coding	C6orf211	6q25.1	acidic residue methyltransferase 1	Ubiquitous expression in thyroid (RPKM 18.3), kidney (RPKM 17.3) and 24 other tissues
ARNT	chr1	150809705	150876768	-	ENSG00000143437.20	protein_coding	HIF-1-beta|HIF-1beta|HIF1-beta|HIF1B|HIF1BETA|TANGO|bHLHe2	1q21.3	aryl hydrocarbon receptor nuclear translocator	This gene encodes a protein containing a basic helix-loop-helix domain and two characteristic PAS domains along with a PAC domain. The encoded protein binds to ligand-bound aryl hydrocarbon receptor and aids in the movement of this complex to the nucleus, where it promotes the expression of genes involved in xenobiotic metabolism. This protein is also a co-factor for transcriptional regulation by hypoxia-inducible factor 1. Chromosomal translocation of this locus with the ETV6 (ets variant 6) gene on chromosome 12 have been described in leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]
ARNT2	chr15	80404350	80597937	+	ENSG00000172379.20	protein_coding	WEDAS|bHLHe1	15q25.1	aryl hydrocarbon receptor nuclear translocator 2	This gene encodes a member of the basic-helix-loop-helix-Per-Arnt-Sim (bHLH-PAS) superfamily of transcription factors. The encoded protein acts as a partner for several sensor proteins of the bHLH-PAS family, forming heterodimers with the sensor proteins that bind regulatory DNA sequences in genes responsive to developmental and environmental stimuli. Under hypoxic conditions, the encoded protein complexes with hypoxia-inducible factor 1alpha in the nucleus and this complex binds to hypoxia-responsive elements in enhancers and promoters of oxygen-responsive genes. A highly similar protein in mouse forms functional complexes with both aryl hydrocarbon receptors and Single-minded proteins, suggesting additional roles for the encoded protein in the metabolism of xenobiotic compounds and the regulation of neurogenesis, respectively. [provided by RefSeq, Dec 2013]
ARNTL	chr11	13276652	13387266	+	ENSG00000133794.17	protein_coding	BMAL1|BMAL1c|JAP3|MOP3|PASD3|TIC|bHLHe5	11p15.3	aryl hydrocarbon receptor nuclear translocator like	The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. The protein regulates interferon-stimulated gene expression and is an important factor in viral infection, including COVID-19. [provided by RefSeq, Oct 2021]
ARNTL2	chr12	27332854	27425289	+	ENSG00000029153.14	protein_coding	BMAL2|CLIF|MOP9|PASD9|bHLHe6	12p11.23	aryl hydrocarbon receptor nuclear translocator like 2	This gene encodes a basic helix-loop-helix transcription factor belonging to the PAS (PER, ARNT, SIM) superfamily. The PAS proteins play important roles in adaptation to low atmospheric and cellular oxygen levels, exposure to certain environmental pollutants, and diurnal oscillations in light and temperature. This protein forms a transcriptionally active heterodimer with the circadian CLOCK protein, the structurally related MOP4, and hypoxia-inducible factors, such as HIF1alpha. Consistent with its role as a biologically relevant partner of circadian and hypoxia factors, this protein is coexpressed in regions of the brain such as the thalamus, hypothalamus, and amygdala. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
ARNTL2-AS1	chr12	27389789	27446625	-	ENSG00000245311.2	antisense	-	12p11.23	ARNTL2 antisense RNA 1	-
ARPC1A	chr7	99325910	99366262	+	ENSG00000241685.9	protein_coding	Arc40|HEL-68|HEL-S-307|SOP2Hs|SOP2L	7q22.1	actin related protein 2/3 complex subunit 1A	This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
ARPC1B	chr7	99374249	99394801	+	ENSG00000130429.12	protein_coding	ARC41|IMD71|PLTEID|p40-ARC|p41-ARC	7q22.1	actin related protein 2/3 complex subunit 1B	This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1A. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. This protein also has a role in centrosomal homeostasis by being an activator and substrate of the Aurora A kinase. [provided by RefSeq, Mar 2011]
ARPC2	chr2	218217094	218254356	+	ENSG00000163466.15	protein_coding	ARC34|PNAS-139|PRO2446|p34-Arc	2q35	actin related protein 2/3 complex subunit 2	This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p34 subunit, has yet to be determined. Two alternatively spliced variants have been characterized to date. Additional alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
ARPC3	chr12	110434825	110450422	-	ENSG00000111229.15	protein_coding	ARC21|p21-Arc	12q24.11	actin related protein 2/3 complex subunit 3	This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been conserved through evolution and is implicated in the control of actin polymerization in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
ARPC3P1	chr20	49134480	49135012	+	ENSG00000226284.1	processed_pseudogene	ARPC3B|dJ470L14.3	20q13.13	actin related protein 2/3 complex subunit 3 pseudogene 1	-
ARPC5	chr1	183620846	183635757	-	ENSG00000162704.15	protein_coding	ARC16|dJ127C7.3|p16-Arc	1q25.3	actin related protein 2/3 complex subunit 5	This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p16 subunit, has yet to be determined. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
ARPC5L	chr9	124862130	124877733	+	ENSG00000136950.13	protein_coding	ARC16-2	9q33.3	actin related protein 2/3 complex subunit 5 like	Ubiquitous expression in bone marrow (RPKM 7.9), testis (RPKM 7.3) and 25 other tissues
ARPIN	chr15	89895006	89912956	-	ENSG00000242498.7	protein_coding	C15orf38	15q26.1	actin related protein 2/3 complex inhibitor	Ubiquitous expression in colon (RPKM 5.0), ovary (RPKM 4.4) and 24 other tissues
ARPP21	chr3	35638945	35794496	+	ENSG00000172995.16	protein_coding	ARPP-21|R3HDM3|RCS|TARPP	3p22.3	cAMP regulated phosphoprotein 21	This gene encodes a cAMP-regulated phosphoprotein. The encoded protein is enriched in the caudate nucleus and cerebellar cortex. A similar protein in mouse may be involved in regulating the effects of dopamine in the basal ganglia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
ARRB1	chr11	75264182	75351705	-	ENSG00000137486.16	protein_coding	ARB1|ARR1	11q13.4	arrestin beta 1	Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 1 is a cytosolic protein and acts as a cofactor in the beta-adrenergic receptor kinase (BARK) mediated desensitization of beta-adrenergic receptors. Besides the central nervous system, it is expressed at high levels in peripheral blood leukocytes, and thus the BARK/beta-arrestin system is believed to play a major role in regulating receptor-mediated immune functions. Alternatively spliced transcripts encoding different isoforms of arrestin beta 1 have been described. [provided by RefSeq, Jan 2011]
ARRB2	chr17	4710489	4721499	+	ENSG00000141480.17	protein_coding	ARB2|ARR2|BARR2	17p13.2	arrestin beta 2	Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. Arrestin beta 2, like arrestin beta 1, was shown to inhibit beta-adrenergic receptor function in vitro. It is expressed at high levels in the central nervous system and may play a role in the regulation of synaptic receptors. Besides the brain, a cDNA for arrestin beta 2 was isolated from thyroid gland, and thus it may also be involved in hormone-specific desensitization of TSH receptors. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
ARRDC1	chr9	137605654	137615360	+	ENSG00000197070.13	protein_coding	-	9q34.3	arrestin domain containing 1	-
ARRDC1-AS1	chr9	137615332	137618906	-	ENSG00000203993.4	antisense	C9orf37	9q34.3	ARRDC1 antisense RNA 1	This transcribed locus is thought to be non-coding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
ARRDC2	chr19	18001132	18014102	+	ENSG00000105643.9	protein_coding	CLONE24945|PP2703	19p13.11	arrestin domain containing 2	Ubiquitous expression in bone marrow (RPKM 25.3), fat (RPKM 16.5) and 24 other tissues
ARRDC3	chr5	91368724	91383359	-	ENSG00000113369.8	protein_coding	TLIMP	5q14.3	arrestin domain containing 3	This gene encodes a member of the arrestin family of proteins, which regulate G protein-mediated signaling. The encoded protein is thought to act as a regulator of breast cancer growth and progression by binding to a phosphorylated form of integrin beta4, a tumor-related antigen, targeting the integrin for internalization and degradation. [provided by RefSeq, Jul 2016]
ARRDC3-AS1	chr5	91380349	91439085	+	ENSG00000281357.2	lincRNA	-	5q14.3	ARRDC3 antisense RNA 1	-
ARRDC4	chr15	97960698	97973838	+	ENSG00000140450.8	protein_coding	-	15q26.2	arrestin domain containing 4	-
ARRDC5	chr19	4890437	4902867	-	ENSG00000205784.2	protein_coding	-	19p13.3	arrestin domain containing 5	-
ARSA	chr22	50622754	50628173	-	ENSG00000100299.17	protein_coding	ASA|MLD	22q13.33	arylsulfatase A	The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]
ARSB	chr5	78777209	78986087	-	ENSG00000113273.15	protein_coding	ASB|G4S|MPS6	5q14.1	arylsulfatase B	Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targeted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2016]
ARSD	chrX	2903970	2929351	-	ENSG00000006756.15	protein_coding	ASD	Xp22.33	arylsulfatase D	The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correct composition of bone and cartilage matrix. The encoded protein is postranslationally glycosylated and localized to the lysosome. This gene is located within a cluster of similar arylsulfatase genes on chromosome X. A related pseudogene has been identified in the pseudoautosomal region of chromosome Y. [provided by RefSeq, Jul 2011]
ARSG	chr17	68259182	68422731	+	ENSG00000141337.12	protein_coding	USH4	17q24.2	arylsulfatase G	The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules. This protein displays arylsulfatase activity at acidic pH, as is typical of lysosomal sulfatases, and has been shown to localize in the lysosomes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]
ARSK	chr5	95555074	95605064	+	ENSG00000164291.16	protein_coding	TSULF	5q15	arylsulfatase family member K	Sulfatases (EC 3.1.5.6), such as ARSK, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]
ART2P	chr11	72519986	72521733	+	ENSG00000238048.1	unprocessed_pseudogene	ART1P|RT6	11q13.4	ADP-ribosyltransferase 2, pseudogene	-
ART4	chr12	14825569	14843495	-	ENSG00000111339.10	protein_coding	ARTC4|CD297|DO|DO/ART4|DOK1	12p12.3	ADP-ribosyltransferase 4 (inactive) (Dombrock blood group)	This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008]
ART5	chr11	3638503	3642316	-	ENSG00000167311.13	protein_coding	ARTC5	11p15.4	ADP-ribosyltransferase 5	The protein encoded by this gene belongs to the ARG-specific ADP-ribosyltransferase family. Proteins in this family regulate the function of target proteins by attaching ADP-ribose to specific amino acid residues in their target proteins. The mouse homolog lacks a glycosylphosphatidylinositol-anchor signal sequence and is predicted to be a secretory enzyme. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
ARTN	chr1	43933320	43937241	+	ENSG00000117407.16	protein_coding	ART|ENOVIN|EVN|NBN	1p34.1	artemin	This gene encodes a secreted ligand of the glial cell line-derived neurotrophic factor (GDNF) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein signals through the RET receptor and GFR alpha 3 coreceptor, and supports the survival of a number of peripheral neuron populations and at least one population of dopaminergic CNS neurons. This protein has also been shown to promote tumor growth, metastasis, and drug resistance in mammary carcinoma. [provided by RefSeq, Aug 2016]
ARV1	chr1	230978981	231000595	+	ENSG00000173409.13	protein_coding	DEE38|EIEE38	1q42.2	ARV1 homolog, fatty acid homeostasis modulator	this gene encodes a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic encephalopathy 38. [provided by RefSeq, Nov 2016]
ARVCF	chr22	19969896	20016808	-	ENSG00000099889.13	protein_coding	-	22q11.21	ARVCF delta catenin family member	Broad expression in spleen (RPKM 5.1), thyroid (RPKM 3.0) and 25 other tissues
AS3MT	chr10	102869516	102901899	+	ENSG00000214435.7	protein_coding	CYT19	10q24.32	arsenite methyltransferase	AS3MT catalyzes the transfer of a methyl group from S-adenosyl-L-methionine (AdoMet) to trivalent arsenical and may play a role in arsenic metabolism (Lin et al., 2002 [PubMed 11790780]).[supplied by OMIM, Mar 2008]
ASAH1	chr8	18055992	18084998	-	ENSG00000104763.18	protein_coding	AC|ACDase|ASAH|PHP|PHP32|SMAPME	8p22	N-acylsphingosine amidohydrolase 1	This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]
ASAH2	chr10	50182778	50248610	-	ENSG00000188611.14	protein_coding	BCDase|HNAC1|LCDase|N-CDase|NCDase	10q11.23	N-acylsphingosine amidohydrolase 2	Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]
ASAH2B	chr10	50739318	50816495	+	ENSG00000204147.9	protein_coding	ASAH2C|ASAH2L|bA449O16.3|bA98I6.3	10q11.23	N-acylsphingosine amidohydrolase 2B	Note: In June, 2007, the name of this locus was changed to conform to the location published by Deloukas et al., PubMed 15164054. [15 Jun 2007]
ASAP1	chr8	130052104	130443660	-	ENSG00000153317.14	protein_coding	AMAP1|CENTB4|DDEF1|PAG2|PAP|ZG14P	8q24.21-q24.22	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
ASAP1-IT2	chr8	130082738	130084768	-	ENSG00000280543.1	sense_intronic	-	8q24.21	ASAP1 intronic transcript 2	-
ASAP2	chr2	9206765	9405683	+	ENSG00000151693.9	protein_coding	AMAP2|CENTB3|DDEF2|PAG3|PAP|Pap-alpha|SHAG1	2p25.1|2p24	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
ASAP3	chr1	23428563	23484568	-	ENSG00000088280.18	protein_coding	ACAP4|CENTB6|DDEFL1|UPLC1	1p36.12	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
ASB1	chr2	238426742	238452250	+	ENSG00000065802.11	protein_coding	ASB-1	2q37.3	ankyrin repeat and SOCS box containing 1	The protein encoded by this gene contains an ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, targeting them for ubiquitination and degradation. [provided by RefSeq, Aug 2016]
ASB10	chr7	151175698	151187832	-	ENSG00000146926.10	protein_coding	GLC1F	7q36.1	ankyrin repeat and SOCS box containing 10	The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2008]
ASB13	chr10	5638867	5666595	-	ENSG00000196372.12	protein_coding	-	10p15.1	ankyrin repeat and SOCS box containing 13	Ubiquitous expression in kidney (RPKM 21.1), small intestine (RPKM 13.2) and 25 other tissues
ASB14	chr3	57268347	57292682	-	ENSG00000239388.8	protein_coding	-	3p14.3	ankyrin repeat and SOCS box containing 14	Ubiquitous expression in heart (RPKM 1.8), bone marrow (RPKM 1.0) and 25 other tissues
ASB15	chr7	123567010	123639481	+	ENSG00000146809.12	protein_coding	-	7q31.32	ankyrin repeat and SOCS box containing 15	Biased expression in heart (RPKM 6.0), kidney (RPKM 2.1) and 2 other tissues
ASB16	chr17	44170447	44179083	+	ENSG00000161664.6	protein_coding	-	17q21.31	ankyrin repeat and SOCS box containing 16	Ubiquitous expression in spleen (RPKM 1.6), prostate (RPKM 1.5) and 25 other tissues
ASB16-AS1	chr17	44175973	44186717	-	ENSG00000267080.5	antisense	C17orf65	17q21.31	ASB16 antisense RNA 1	Ubiquitous expression in spleen (RPKM 3.5), lymph node (RPKM 3.0) and 25 other tissues
ASB18	chr2	236194872	236264409	-	ENSG00000182177.13	protein_coding	ASB-18	2q37.2	ankyrin repeat and SOCS box containing 18	The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Feb 2017]
ASB2	chr14	93934153	93976791	-	ENSG00000100628.11	protein_coding	ASB-2	14q32.12	ankyrin repeat and SOCS box containing 2	This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
ASB3	chr2	53532672	53787610	-	ENSG00000115239.21	protein_coding	ASB-3	2p16.2	ankyrin repeat and SOCS box containing 3	The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2011]
ASB4	chr7	95478444	95540232	+	ENSG00000005981.12	protein_coding	ASB-4	7q21.3	ankyrin repeat and SOCS box containing 4	The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known. [provided by RefSeq, Jul 2008]
ASB7	chr15	100602534	100651705	+	ENSG00000183475.12	protein_coding	-	15q26.3	ankyrin repeat and SOCS box containing 7	Ubiquitous expression in testis (RPKM 4.8), thyroid (RPKM 4.2) and 25 other tissues
ASB8	chr12	48147788	48181213	-	ENSG00000177981.10	protein_coding	PP14212	12q13.11	ankyrin repeat and SOCS box containing 8	Ubiquitous expression in heart (RPKM 11.8), kidney (RPKM 11.3) and 25 other tissues
ASCC1	chr10	72096032	72217134	-	ENSG00000138303.17	protein_coding	ASC1p50|CGI-18|SMABF2|p50	10q22.1	activating signal cointegrator 1 complex subunit 1	This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
ASCC2	chr22	29788608	29838304	-	ENSG00000100325.14	protein_coding	ASC1p100|p100	22q12.2	activating signal cointegrator 1 complex subunit 2	Ubiquitous expression in bone marrow (RPKM 13.0), testis (RPKM 12.7) and 25 other tissues
ASCC3	chr6	100508194	100881372	-	ENSG00000112249.13	protein_coding	ASC1p200|HELIC1|RNAH	6q16.3	activating signal cointegrator 1 complex subunit 3	This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
ASCL1	chr12	102957686	102960516	+	ENSG00000139352.3	protein_coding	ASH1|HASH1|MASH1|bHLHa46	12q23.2	achaete-scute family bHLH transcription factor 1	This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5-CANNTG-3). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008]
ASCL2	chr11	2268495	2270952	-	ENSG00000183734.4	protein_coding	ASH2|HASH2|MASH2|bHLHa45	11p15.5	achaete-scute family bHLH transcription factor 2	This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5-CANNTG-3). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. [provided by RefSeq, Jul 2008]
ASCL3	chr11	8937579	8938211	-	ENSG00000176009.3	protein_coding	HASH3|SGN1|bHLHa42	11p15.4	achaete-scute family bHLH transcription factor 3	Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008]
ASCL5	chr1	201113953	201127184	-	ENSG00000232237.3	protein_coding	ASH-5|bHLHa47	1q32.1	achaete-scute family bHLH transcription factor 5	-
ASF1A	chr6	118894220	118909167	+	ENSG00000111875.7	protein_coding	CGI-98|CIA|HSPC146	6q22.31	anti-silencing function 1A histone chaperone	This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The protein is a key component of a histone donor complex that functions in nucleosome assembly. It interacts with histones H3 and H4, and functions together with a chromatin assembly factor during DNA replication and repair. [provided by RefSeq, Jul 2008]
ASF1B	chr19	14119509	14136956	-	ENSG00000105011.8	protein_coding	CIA-II	19p13.12	anti-silencing function 1B histone chaperone	This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The encoded protein is the substrate of the tousled-like kinase family of cell cycle-regulated kinases, and may play a key role in modulating the nucleosome structure of chromatin by ensuring a constant supply of histones at sites of nucleosome assembly. [provided by RefSeq, Jul 2008]
ASGR1	chr17	7173431	7179564	-	ENSG00000141505.11	protein_coding	ASGPR|ASGPR1|CLEC4H1|HL-1	17p13.1	asialoglycoprotein receptor 1	This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the more abundant major subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
ASGR2	chr17	7101322	7115700	-	ENSG00000161944.16	protein_coding	ASGP-R2|ASGPR2|CLEC4H2|HBXBP|HL-2	17p13.1	asialoglycoprotein receptor 2	This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the less abundant minor subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
ASH1L	chr1	155335268	155562807	-	ENSG00000116539.12	protein_coding	ASH1|ASH1L1|KMT2H|MRD52	1q22	ASH1 like histone lysine methyltransferase	This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]
ASH2L	chr8	38105242	38144076	+	ENSG00000129691.15	protein_coding	ASH2|ASH2L1|ASH2L2|Bre2	8p11.23	ASH2 like, histone lysine methyltransferase complex subunit	Ubiquitous expression in testis (RPKM 20.9), fat (RPKM 13.3) and 25 other tissues
ASIC1	chr12	50057548	50083611	+	ENSG00000110881.11	protein_coding	ACCN2|ASIC|BNaC2	12q13.12	acid sensing ion channel subunit 1	This gene encodes a member of the acid-sensing ion channel (ASIC) family of proteins, which are part of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. Members of the ASIC family are sensitive to amiloride and function in neurotransmission. The encoded proteins function in learning, pain transduction, touch sensation, and development of memory and fear. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
ASIC3	chr7	151048292	151052756	+	ENSG00000213199.7	protein_coding	ACCN3|DRASIC|SLNAC1|TNaC1	7q36.1	acid sensing ion channel subunit 3	This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, two hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene is an acid sensor and may play an important role in the detection of lasting pH changes. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 2 has been observed as proton-gated channels sensitive to gadolinium. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
ASIC4	chr2	219514170	219538772	+	ENSG00000072182.12	protein_coding	ACCN4|BNAC4	2q35	acid sensing ion channel subunit family member 4	This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012]
ASIP	chr20	34194569	34269344	+	ENSG00000101440.9	protein_coding	AGSW|AGTI|AGTIL|ASP|SHEP9	20q11.22	agouti signaling protein	In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008]
ASL	chr7	66075798	66093558	+	ENSG00000126522.16	protein_coding	ASAL	7q11.21	argininosuccinate lyase	This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
ASMTL	chrX	1403139	1453762	-	ENSG00000169093.15	protein_coding	ASMTLX|ASMTLY|ASTML	X;Y	acetylserotonin O-methyltransferase like	The protein encoded by this gene has an N-terminus that is similar to the multicopy associated filamentation (maf) protein of Bacillus subtilis and to orfE of Escherichia coli, while the C-terminus is similar to N-acetylserotonin O-methyltransferase. This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
ASNS	chr7	97852118	97872542	-	ENSG00000070669.16	protein_coding	ASNSD|TS11	7q21.3	asparagine synthetase (glutamine-hydrolyzing)	The protein encoded by this gene is involved in the synthesis of asparagine. This gene complements a mutation in the temperature-sensitive hamster mutant ts11, which blocks progression through the G1 phase of the cell cycle at nonpermissive temperature. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]
ASNSD1	chr2	189661385	189670831	+	ENSG00000138381.9	protein_coding	NBLA00058|NS3TP1	2q32.2	asparagine synthetase domain containing 1	Ubiquitous expression in ovary (RPKM 15.1), placenta (RPKM 13.4) and 25 other tissues
ASPA	chr17	3472374	3503419	+	ENSG00000108381.10	protein_coding	ACY2|ASP	17p13.2	aspartoacylase	This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
ASPDH	chr19	50511600	50514690	-	ENSG00000204653.9	protein_coding	-	19q13.33	aspartate dehydrogenase domain containing	-
ASPG	chr14	104085679	104115581	+	ENSG00000166183.15	protein_coding	C14orf76|GPA/WT|LYSOLP	14q32.33	asparaginase	Biased expression in liver (RPKM 7.5), kidney (RPKM 3.8) and 8 other tissues
ASPH	chr8	61500556	61714640	-	ENSG00000198363.17	protein_coding	AAH|BAH|CASQ2BP1|FDLAB|HAAH|JCTN|junctin	8q12.3	aspartate beta-hydroxylase	This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009]
ASPHD1	chr16	29900375	29919864	+	ENSG00000174939.10	protein_coding	-	16p11.2	aspartate beta-hydroxylase domain containing 1	-
ASPHD2	chr22	26429273	26445015	+	ENSG00000128203.6	protein_coding	-	22q12.1	aspartate beta-hydroxylase domain containing 2	-
ASPM	chr1	197084128	197146694	-	ENSG00000066279.17	protein_coding	ASP|Calmbp1|MCPH5	1q31.3	assembly factor for spindle microtubules	This gene is the human ortholog of the Drosophila melanogaster abnormal spindle gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
ASPN	chr9	92456205	92482506	-	ENSG00000106819.11	protein_coding	OS3|PLAP-1|PLAP1|SLRR1C	9q22.31	asporin	This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis, and also with intervertebral disc disease. Alternative splicing of this gene results in multiple transcript variants.[provided by RefSeq, Jul 2014]
ASPRV1	chr2	69960089	69962265	-	ENSG00000244617.2	protein_coding	ADLI|MUNO|SASP|SASPase|Taps	2p13.3	aspartic peptidase retroviral like 1	Filaggrin is a structural protein that is crucial for in the development and maintenance of the skin barrier. This gene encodes a retroviral-like protease involved in profilaggrin-to-filaggrin processing. Expression is found primarily in the epidermis and inner root sheath of hair follicles. [provided by RefSeq, May 2017]
ASPSCR1	chr17	81976807	82017406	+	ENSG00000169696.15	protein_coding	ASPCR1|ASPL|ASPS|RCC17|TUG|UBXD9|UBXN9	17q25.3	ASPSCR1 tether for SLC2A4, UBX domain containing	The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011]
ASRGL1	chr11	62337448	62393412	+	ENSG00000162174.12	protein_coding	ALP|ALP1|CRASH	11q12.3	asparaginase and isoaspartyl peptidase 1	Biased expression in testis (RPKM 38.7), kidney (RPKM 13.5) and 10 other tissues
ASS1	chr9	130444929	130501274	+	ENSG00000130707.17	protein_coding	ASS|CTLN1	9q34.11	argininosuccinate synthase 1	The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
ASS1P1	chr6	25023247	25024483	-	ENSG00000220517.2	processed_pseudogene	ASSP1	6p22.3	argininosuccinate synthetase 1 pseudogene 1	-
ASTE1	chr3	131013875	131027649	-	ENSG00000034533.11	protein_coding	HT001	3q22.1	asteroid homolog 1	Predicted to enable nuclease activity. Predicted to be involved in nucleic acid phosphodiester bond hydrolysis. [provided by Alliance of Genome Resources, Apr 2022]
ASTL	chr2	96123850	96138436	-	ENSG00000188886.3	protein_coding	SAS1B	2q11.2	astacin like metalloendopeptidase	Biased expression in bone marrow (RPKM 1.1), skin (RPKM 0.2) and 10 other tissues
ASTN1	chr1	176857302	177164973	-	ENSG00000152092.15	protein_coding	ASTN	1q25.2	astrotactin 1	Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, and olfactory bulb (Fink et al., 1995).[supplied by OMIM, Jun 2009]
ASTN2	chr9	116425225	117415070	-	ENSG00000148219.16	protein_coding	bA67K19.1	9q33.1	astrotactin 2	This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]
ASTN2-AS1	chr9	116504283	116562293	+	ENSG00000229105.1	antisense	-	9q33.1	ASTN2 antisense RNA 1	-
ASXL1	chr20	32358344	32439319	+	ENSG00000171456.16	protein_coding	BOPS|MDS	20q11.21	ASXL transcriptional regulator 1	This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
ASXL2	chr2	25733753	25878516	-	ENSG00000143970.16	protein_coding	ASXH2|SHAPNS	2p23.3	ASXL transcriptional regulator 2	This gene encodes a member of a family of epigenetic regulators that bind various histone-modifying enzymes and are involved in the assembly of transcription factors at specific genomic loci. Naturally occurring mutations in this gene are associated with cancer in several tissue types (breast, bladder, pancreas, ovary, prostate, and blood). This gene plays an important role in neurodevelopment, cardiac function, adipogenesis, and osteoclastogenesis. [provided by RefSeq, Feb 2017]
ASXL3	chr18	33578577	33751192	+	ENSG00000141431.10	protein_coding	BRPS|KIAA1713	18q12.1	ASXL transcriptional regulator 3	This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and thyroid hormone receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features. [provided by RefSeq, May 2017]
ATAD1	chr10	87751512	87841343	-	ENSG00000138138.13	protein_coding	AFDC1|FNP001|HKPX4|Msp1|THORASE|hATAD1	10q23.31	ATPase family AAA domain containing 1	Ubiquitous expression in testis (RPKM 11.5), heart (RPKM 11.1) and 25 other tissues
ATAD2B	chr2	23748664	23927114	-	ENSG00000119778.14	protein_coding	-	2p24.1-p23.3	ATPase family AAA domain containing 2B	Ubiquitous expression in lymph node (RPKM 1.9), testis (RPKM 1.9) and 25 other tissues
ATAD3A	chr1	1512151	1534687	+	ENSG00000197785.13	protein_coding	HAYOS|PHRINL	1p36.33	ATPase family AAA domain containing 3A	This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. This gene is a member of the ATPase family AAA-domain containing 3 gene family which, in humans, includes two other paralogs. Naturally occurring mutations in this gene are associated with distinct neurological syndromes including Harel-Yoon syndrome. High-level expression of this gene is associated with poor survival in breast cancer patients. A homozygous knockout of the orthologous gene in mice results in embryonic lethality at day 7.5 due to growth retardation and defective development of the trophoblast lineage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
ATAD3B	chr1	1471769	1497848	+	ENSG00000160072.19	protein_coding	AAA-TOB3|TOB3	1p36.33	ATPase family AAA domain containing 3B	The protein encoded by this gene is localized to the mitochondrial inner membrane, where it can bind to a highly-related protein, ATAD3A. ATAD3A appears to interact with matrix nucleoid complexes, and the encoded protein negatively regulates that interaction. This gene is expressed almost exclusively in pluripotent embryonic stem cells and some cancer cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
ATAD3C	chr1	1449689	1470158	+	ENSG00000215915.9	protein_coding	-	1p36.33	ATPase family AAA domain containing 3C	-
ATAD5	chr17	30831970	30895869	+	ENSG00000176208.8	protein_coding	C17orf41|ELG1|FRAG1	17q11.2	ATPase family AAA domain containing 5	Broad expression in bone marrow (RPKM 3.8), lymph node (RPKM 1.6) and 19 other tissues
ATAT1	chr6	30626842	30646823	+	ENSG00000137343.17	protein_coding	C6orf134|MEC17|Nbla00487|TAT|alpha-TAT|alpha-TAT1	6p21.33	alpha tubulin acetyltransferase 1	This gene encodes a protein that localizes to clathrin-coated pits, where it acetylates alpha tubulin on lysine 40. This process may be important in microtubule growth, for instance during chemotaxis and the formation of cilium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
ATCAY	chr19	3879864	3928079	+	ENSG00000167654.17	protein_coding	BNIP-H|CLAC	19p13.3	ATCAY kinesin light chain interacting caytaxin	This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008]
ATE1	chr10	121740421	121928801	-	ENSG00000107669.17	protein_coding	-	10q26.13	arginyltransferase 1	Ubiquitous expression in thyroid (RPKM 8.9), testis (RPKM 7.9) and 25 other tissues
ATF1	chr12	50763710	50821122	+	ENSG00000123268.8	protein_coding	EWS-ATF1|FUS/ATF-1|TREB36	12q13.12	activating transcription factor 1	This gene encodes an activating transcription factor, which belongs to the ATF subfamily and bZIP (basic-region leucine zipper) family. It influences cellular physiologic processes by regulating the expression of downstream target genes, which are related to growth, survival, and other cellular activities. This protein is phosphorylated at serine 63 in its kinase-inducible domain by serine/threonine kinases, cAMP-dependent protein kinase A, calmodulin-dependent protein kinase I/II, mitogen- and stress-activated protein kinase and cyclin-dependent kinase 3 (cdk-3). Its phosphorylation enhances its transactivation and transcriptional activities, and enhances cell transformation. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in angiomatoid fibrous histiocytoma and clear cell sarcoma. This gene has a pseudogene on chromosome 6. [provided by RefSeq, Aug 2010]
ATF4	chr22	39519695	39522685	+	ENSG00000128272.14	protein_coding	CREB-2|CREB2|TAXREB67|TXREB	22q13.1	activating transcription factor 4	This gene encodes a transcription factor that was originally identified as a widely expressed mammalian DNA binding protein that could bind a tax-responsive enhancer element in the LTR of HTLV-1. The encoded protein was also isolated and characterized as the cAMP-response element binding protein 2 (CREB-2). The protein encoded by this gene belongs to a family of DNA-binding proteins that includes the AP-1 family of transcription factors, cAMP-response element binding proteins (CREBs) and CREB-like proteins. These transcription factors share a leucine zipper region that is involved in protein-protein interactions, located C-terminal to a stretch of basic amino acids that functions as a DNA binding domain. Two alternative transcripts encoding the same protein have been described. Two pseudogenes are located on the X chromosome at q28 in a region containing a large inverted duplication. [provided by RefSeq, Sep 2011]
ATF4P3	chr17	76225751	76226806	-	ENSG00000228218.1	processed_pseudogene	ATF4C	17q25.1	activating transcription factor 4 pseudogene 3	-
ATF4P4	chr11	113789231	113791366	+	ENSG00000256167.1	transcribed_processed_pseudogene	ATF4B	11q23.2	activating transcription factor 4 pseudogene 4	-
ATF5	chr19	49928702	49933935	+	ENSG00000169136.10	protein_coding	ATFX|HMFN0395	19q13.33	activating transcription factor 5	Biased expression in liver (RPKM 197.1), thyroid (RPKM 55.7) and 2 other tissues
ATF6	chr1	161766294	161964070	+	ENSG00000118217.5	protein_coding	ACHM7|ATF6A	1q23.3	activating transcription factor 6	This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembrane protein that is embedded in the ER. It functions as an ER stress sensor/transducer, and following ER stress-induced proteolysis, it functions as a nuclear transcription factor via a cis-acting ER stress response element (ERSE) that is present in the promoters of genes encoding ER chaperones. This protein has been identified as a survival factor for quiescent but not proliferative squamous carcinoma cells. There have been conflicting reports about the association of polymorphisms in this gene with diabetes in different populations, but another polymorphism has been associated with increased plasma cholesterol levels. This gene is also thought to be a potential therapeutic target for cystic fibrosis. [provided by RefSeq, Aug 2011]
ATF6B	chr6	32098176	32128253	-	ENSG00000213676.10	protein_coding	CREB-RP|CREBL1|G13	6p21.32	activating transcription factor 6 beta	The protein encoded by this gene is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. Either as a homodimer or as a heterodimer with ATF6-alpha, the encoded protein binds to the ER stress response element, interacting with nuclear transcription factor Y to activate UPR target genes. The protein is normally found in the membrane of the endoplasmic reticulum; however, under ER stress, the N-terminal cytoplasmic domain is cleaved from the rest of the protein and translocates to the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
ATF7	chr12	53507856	53626410	-	ENSG00000170653.18	protein_coding	ATFA	12q13.13	activating transcription factor 7	Ubiquitous expression in lung (RPKM 9.8), fat (RPKM 9.2) and 25 other tissues
ATF7IP	chr12	14365632	14502935	+	ENSG00000171681.12	protein_coding	AM|ATF-IP|MCAF|MCAF1|p621	12p13.1	activating transcription factor 7 interacting protein	ATF7IP is a multifunctional nuclear protein that associates with heterochromatin. It can act as a transcriptional coactivator or corepressor depending upon its binding partners (summary by Liu et al., 2009 [PubMed 19106100]).[supplied by OMIM, Nov 2010]
ATF7IP2	chr16	10326434	10483638	+	ENSG00000166669.13	protein_coding	MCAF2	16p13.2-p13.13	activating transcription factor 7 interacting protein 2	Broad expression in testis (RPKM 6.9), lymph node (RPKM 2.0) and 24 other tissues
ATG10	chr5	81972025	82276857	+	ENSG00000152348.15	protein_coding	APG10|APG10L|pp12616	5q14.1-q14.2	autophagy related 10	Autophagy is a process for the bulk degradation of cytosolic compartments by lysosomes. ATG10 is an E2-like enzyme involved in 2 ubiquitin-like modifications essential for autophagosome formation: ATG12 (MIM 609608)-ATG5 (MIM 604261) conjugation and modification of a soluble form of MAP-LC3 (MAP1LC3A; MIM 601242), a homolog of yeast Apg8, to a membrane-bound form (Nemoto et al., 2003 [PubMed 12890687]).[supplied by OMIM, Mar 2008]
ATG10-AS1	chr5	82073055	82073702	-	ENSG00000248192.1	antisense	-	5q14.1	ATG10 antisense RNA 1	-
ATG101	chr12	52069246	52077494	+	ENSG00000123395.14	protein_coding	C12orf44	12q13.13	autophagy related 101	Ubiquitous expression in testis (RPKM 16.2), thyroid (RPKM 14.2) and 25 other tissues
ATG12	chr5	115828200	115841858	-	ENSG00000145782.12	protein_coding	APG12|APG12L|FBR93|HAPG12	5q22.3	autophagy related 12	Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM, Mar 2008]
ATG13	chr11	46617527	46674818	+	ENSG00000175224.16	protein_coding	KIAA0652|PARATARG8	11p11.2	autophagy related 13	The protein encoded by this gene is an autophagy factor and a target of the TOR kinase signaling pathway. The encoded protein is essential for autophagosome formation and mitophagy. [provided by RefSeq, Oct 2016]
ATG14	chr14	55366392	55411858	-	ENSG00000126775.8	protein_coding	ATG14L|BARKOR|KIAA0831	14q22.3	autophagy related 14	Ubiquitous expression in bone marrow (RPKM 13.8), testis (RPKM 7.6) and 25 other tissues
ATG16L1	chr2	233210051	233295674	+	ENSG00000085978.21	protein_coding	APG16L|ATG16A|ATG16L|IBD10|WDR30	2q37.1	autophagy related 16 like 1	The protein encoded by this gene is part of a large protein complex that is necessary for autophagy, the major process by which intracellular components are targeted to lysosomes for degradation. Defects in this gene are a cause of susceptibility to inflammatory bowel disease type 10 (IBD10). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]
ATG16L2	chr11	72814308	72843674	+	ENSG00000168010.10	protein_coding	ATG16B|WDR80	11q13.4	autophagy related 16 like 2	Broad expression in spleen (RPKM 22.5), skin (RPKM 19.9) and 24 other tissues
ATG2A	chr11	64894546	64917248	-	ENSG00000110046.12	protein_coding	-	11q13.1	autophagy related 2A	-
ATG3	chr3	112532509	112562046	-	ENSG00000144848.10	protein_coding	APG3|APG3-LIKE|APG3L|PC3-96	3q13.2	autophagy related 3	This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved in autophagy, the process of degradation, turnover and recycling of cytoplasmic constituents in eukaryotic cells. This protein is known to play a role in regulation of autophagy during cell death. A pseudogene of this gene is located on chromosome 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
ATG4B	chr2	241637213	241673857	+	ENSG00000168397.16	protein_coding	APG4B|AUTL1	2q37.3	autophagy related 4B cysteine peptidase	Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
ATG4C	chr1	62784135	62865513	+	ENSG00000125703.14	protein_coding	APG4-C|APG4C|AUTL1|AUTL3	1p31.3	autophagy related 4C cysteine peptidase	Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding the same protein, have been characterized. [provided by RefSeq, Jul 2008]
ATG4D	chr19	10543895	10553418	+	ENSG00000130734.9	protein_coding	APG4-D|APG4D|AUTL4	19p13.2	autophagy related 4D cysteine peptidase	Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene belongs to the autophagy-related protein 4 (Atg4) family of C54 endopeptidases. Members of this family encode proteins that play a role in the biogenesis of autophagosomes, which sequester the cytosol and organelles for degradation by lysosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
ATG5	chr6	106045423	106325791	-	ENSG00000057663.14	protein_coding	APG5|APG5-LIKE|APG5L|ASP|SCAR25|hAPG5	6q21	autophagy related 5	The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Several transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
ATG7	chr3	11272309	11557665	+	ENSG00000197548.12	protein_coding	APG7-LIKE|APG7L|GSA7|SCAR31	3p25.3	autophagy related 7	This gene encodes an E1-like activating enzyme that is essential for autophagy and cytoplasmic to vacuole transport. The encoded protein is also thought to modulate p53-dependent cell cycle pathways during prolonged metabolic stress. It has been associated with multiple functions, including axon membrane trafficking, axonal homeostasis, mitophagy, adipose differentiation, and hematopoietic stem cell maintenance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
ATG9A	chr2	219209772	219229717	-	ENSG00000198925.10	protein_coding	APG9L1|MGD3208|mATG9	2q35	autophagy related 9A	Broad expression in testis (RPKM 45.2), brain (RPKM 19.5) and 25 other tissues
ATG9B	chr7	151012209	151024499	-	ENSG00000181652.19	protein_coding	APG9L2|NOS3AS|SONE	7q36.1	autophagy related 9B	This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the posttranscriptional regulation of the endothelial nitric oxide synthase 3 gene, which has 3 overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
ATIC	chr2	215311817	215349773	+	ENSG00000138363.14	protein_coding	AICAR|AICARFT|HEL-S-70p|IMPCHASE|PURH	2q35	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	This gene encodes a bifunctional protein that catalyzes the last two steps of the de novo purine biosynthetic pathway. The N-terminal domain has phosphoribosylaminoimidazolecarboxamide formyltransferase activity, and the C-terminal domain has IMP cyclohydrolase activity. A mutation in this gene results in AICA-ribosiduria. [provided by RefSeq, Sep 2009]
ATL1	chr14	50532509	50633068	+	ENSG00000198513.11	protein_coding	AD-FSP|FSP1|GBP3|HSN1D|SPG3|SPG3A|atlastin1	14q22.1	atlastin GTPase 1	The protein encoded by this gene is a GTPase and a Golgi body transmembrane protein. The encoded protein can form a homotetramer and has been shown to interact with spastin and with mitogen-activated protein kinase kinase kinase kinase 4. This protein may be involved in axonal maintenance as evidenced by the fact that defects in this gene are a cause of spastic paraplegia type 3. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ATL2	chr2	38294880	38377285	-	ENSG00000119787.13	protein_coding	ARL3IP2|ARL6IP2|aip-2|atlastin2	2p22.2-p22.1	atlastin GTPase 2	Ubiquitous expression in thyroid (RPKM 13.5), skin (RPKM 9.8) and 25 other tissues
ATL3	chr11	63624087	63671921	-	ENSG00000184743.12	protein_coding	HSN1F	11q13.1	atlastin GTPase 3	This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 2014]
ATM	chr11	108222484	108369102	+	ENSG00000149311.18	protein_coding	AT1|ATA|ATC|ATD|ATDC|ATE|TEL1|TELO1	11q22.3	ATM serine/threonine kinase	The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
ATN1	chr12	6924463	6942321	+	ENSG00000111676.14	protein_coding	B37|CHEDDA|D12S755E|DRPLA|HRS|NOD	12p13.31	atrophin 1	Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016]
ATOH1	chr4	93828753	93830964	+	ENSG00000172238.4	protein_coding	ATH1|HATH1|MATH-1|bHLHa14	4q22.2	atonal bHLH transcription factor 1	This protein belongs to the basic helix-loop-helix (BHLH) family of transcription factors. It activates E-box dependent transcription along with E47. [provided by RefSeq, Jul 2008]
ATOH7	chr10	68230624	68232103	-	ENSG00000179774.8	protein_coding	Math5|NCRNA|PHPVAR|RNANC|bHLHa13	10q21.3|10q21.3-q22.1	atonal bHLH transcription factor 7	This intronless gene encodes a member of the basic helix-loop-helix family of transcription factors, with similarity to Drosophila atonal gene that controls photoreceptor development. Studies in mice suggest that this gene plays a central role in retinal ganglion cell and optic nerve formation. Mutations in this gene are associated with nonsyndromic congenital retinal nonattachment. [provided by RefSeq, Dec 2011]
ATOH8	chr2	85751344	85788066	+	ENSG00000168874.12	protein_coding	HATH6|bHLHa21	2p11.2	atonal bHLH transcription factor 8	Broad expression in fat (RPKM 7.4), lung (RPKM 4.9) and 19 other tissues
ATOX1	chr5	151742316	151772532	-	ENSG00000177556.11	protein_coding	ATX1|HAH1	5q33.1	antioxidant 1 copper chaperone	This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome. [provided by RefSeq, Jul 2008]
ATP10A	chr15	25677273	25865172	-	ENSG00000206190.11	protein_coding	ATP10C|ATPVA|ATPVC	15q12	ATPase phospholipid transporting 10A (putative)	The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as happy puppet syndrome. [provided by RefSeq, Jul 2008]
ATP10D	chr4	47485288	47593486	+	ENSG00000145246.13	protein_coding	ATPVD	4p12	ATPase phospholipid transporting 10D (putative)	Ubiquitous expression in placenta (RPKM 7.9), skin (RPKM 7.8) and 25 other tissues
ATP11A	chr13	112690329	112887168	+	ENSG00000068650.18	protein_coding	ATPIH|ATPIS	13q34	ATPase phospholipid transporting 11A	The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ATP11B	chr3	182793500	182921635	+	ENSG00000058063.15	protein_coding	ATPIF|ATPIR	3q26.33	ATPase phospholipid transporting 11B (putative)	P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]
ATP12A	chr13	24680411	24712493	+	ENSG00000075673.11	protein_coding	ATP1AL1|H-K-ATPase|HK	13q12.12|13q12.1-q12.3	ATPase H+/K+ transporting non-gastric alpha2 subunit	The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
ATP13A1	chr19	19645198	19663693	-	ENSG00000105726.16	protein_coding	ATP13A|CGI-152	19p13.11	ATPase 13A1	Ubiquitous expression in spleen (RPKM 18.6), testis (RPKM 14.9) and 25 other tissues
ATP13A2	chr1	16985958	17011928	-	ENSG00000159363.17	protein_coding	CLN12|HSA9947|KRPPD|PARK9|SPG78	1p36.13	ATPase cation transporting 13A2	This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]
ATP13A3	chr3	194402672	194498364	-	ENSG00000133657.14	protein_coding	AFURS1	3q29	ATPase 13A3	ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM, Aug 2008]
ATP1A3	chr19	41966582	41997497	-	ENSG00000105409.16	protein_coding	AHC2|ATP1A1|CAPOS|DYT12|RDP	19q13.2	ATPase Na+/K+ transporting subunit alpha 3	The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
ATP1B1	chr1	169105697	169132722	+	ENSG00000143153.12	protein_coding	ATP1B	1q24.2	ATPase Na+/K+ transporting subunit beta 1	The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been described, but their biological validity is not known. [provided by RefSeq, Mar 2010]
ATP1B1P1	chr4	42029209	42030123	+	ENSG00000249212.1	unprocessed_pseudogene	ATP1BL1	4p13	ATPase Na+/K+ transporting subunit beta 1 pseudogene 1	-
ATP1B2	chr17	7646627	7657768	+	ENSG00000129244.8	protein_coding	AMOG	17p13.1	ATPase Na+/K+ transporting subunit beta 2	The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]
ATP1B3	chr3	141876124	141926514	+	ENSG00000069849.10	protein_coding	ATPB-3|CD298	3q23	ATPase Na+/K+ transporting subunit beta 3	The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 3 subunit. This gene encodes a beta 3 subunit. A pseudogene exists for this gene, and it is located on chromosome 2. [provided by RefSeq, Jul 2008]
ATP1B3-AS1	chr3	141918252	141919021	-	ENSG00000244124.1	antisense	-	3q23	ATP1B3 antisense RNA 1	-
ATP1B3P1	chr2	60734895	60735715	-	ENSG00000271707.1	processed_pseudogene	-	2p16.1	ATPase Na+/K+ transporting subunit beta 3 pseudogene 1	-
ATP23	chr12	57941541	57957269	+	ENSG00000166896.7	protein_coding	KUB3|XRCC6BP1	12q14.1	ATP23 metallopeptidase and ATP synthase assembly factor homolog	The protein encoded by this gene is amplified in glioblastomas and interacts with the DNA binding subunit of DNA-dependent protein kinase. This kinase is involved in double-strand break repair (DSB), and higher expression of the encoded protein increases the efficiency of DSB. In addition, comparison to orthologous proteins strongly suggests that this protein is a metalloprotease important in the biosynthesis of mitochondrial ATPase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
ATP2A1	chr16	28878405	28904509	+	ENSG00000196296.13	protein_coding	ATP2A|SERCA1	16p11.2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1	This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]
ATP2A1-AS1	chr16	28878957	28879920	-	ENSG00000260442.5	antisense	-	16p11.2	ATP2A1 antisense RNA 1	-
ATP2A2	chr12	110280756	110351093	+	ENSG00000174437.16	protein_coding	ATP2B|DAR|DD|SERCA2	12q24.11	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of the skeletal muscle. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Other types of mutations in this gene have been associated with various forms of muscular dystrophies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2019]
ATP2A3	chr17	3923870	3964464	-	ENSG00000074370.17	protein_coding	SERCA3	17p13.2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3	This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in calcium sequestration associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
ATP2B1	chr12	89588049	89709300	-	ENSG00000070961.15	protein_coding	PMCA1|PMCA1kb	12q21.33	ATPase plasma membrane Ca2+ transporting 1	The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
ATP2B1-AS1	chr12	89708959	89712590	+	ENSG00000271614.1	lincRNA	LINC00936	12q21.33	ATP2B1 antisense RNA 1	-
ATP2B2	chr3	10324023	10708031	-	ENSG00000157087.17	protein_coding	PMCA2|PMCA2a|PMCA2i	3p25.3	ATPase plasma membrane Ca2+ transporting 2	The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
ATP2B4	chr1	203626561	203744081	+	ENSG00000058668.14	protein_coding	ATP2B2|MXRA1|PMCA4|PMCA4b|PMCA4x	1q32.1	ATPase plasma membrane Ca2+ transporting 4	The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
ATP2C1	chr3	130850595	131016712	+	ENSG00000017260.19	protein_coding	ATP2C1A|BCPM|HHD|PMR1|SPCA1|hSPCA1	3q22.1	ATPase secretory pathway Ca2+ transporting 1	The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
ATP4A	chr19	35550043	35563658	-	ENSG00000105675.8	protein_coding	ATP6A	19q13.12	ATPase H+/K+ transporting subunit alpha	The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes a catalytic alpha subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]
ATP4B	chr13	113648804	113658186	-	ENSG00000186009.4	protein_coding	ATP6B	13q34	ATPase H+/K+ transporting subunit beta	The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes the beta subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]
ATP5F1A	chr18	 46080248	46104227	-	ENSG00000152234	protein-coding	ATP5A|ATP5A1|ATP5AL2|ATPM|COXPD22|HEL-S-123m|MC5DN4|MOM2|OMR|ORM|hATP1	18q21.1	ATP synthase F1 subunit alpha	This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]
ATP5F1AP3	chr16	 72004903	72006744	-	ENSG00000263232	pseudogene	ATP5A1P3|ATP5AP3	16q22.2	ATP synthase F1 subunit alpha pseudogene 3	-
ATP5F1B	chr12	 56638175	56645984	-	ENSG00000110955	protein-coding	ATP5B|ATPMB|ATPSB|HEL-S-271	12q13.3	ATP synthase F1 subunit beta	This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008]
ATP5F1C	chr10	 7788177	7807801	+	ENSG00000165629	protein-coding	ATP5C|ATP5C1|ATP5CL1	10p14	ATP synthase F1 subunit gamma	This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008]
ATP5F1D	chr19	 1241751	1244825	+	ENSG00000099624	protein-coding	ATP5D|MC5DN5	19p13.3	ATP synthase F1 subunit delta	This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]
ATP5F1E	chr20	 59025475	59032335	-	ENSG00000124172	protein-coding	ATP5E|ATPE|MC5DN3	20q13.32	ATP synthase F1 subunit epsilon	This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011]
ATP5F1EP2	chr13	 27945206	27945573	+	-	pseudogene	ATP5EP2	13q12.2	ATP synthase F1 subunit epsilon pseudogene 2	Predicted to enable hydrolase activity. Predicted to contribute to proton-transporting ATP synthase activity, rotational mechanism. Predicted to be involved in mitochondrial ATP synthesis coupled proton transport. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
ATP5IF1	chr1	 28236124	28238100	+	ENSG00000130770	protein-coding	ATPI|ATPIF1|ATPIP|IP	1p35.3	ATP synthase inhibitory factor subunit 1	This gene encodes a mitochondrial ATPase inhibitor. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
ATP5MC1	chr17	 48892787	48895871	+	ENSG00000159199	protein-coding	ATP5A|ATP5G|ATP5G1	17q21.32	ATP synthase membrane subunit c locus 1	This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
ATP5MC1P1	chr14	 105536746	105537292	-	-	pseudogene	ATP5G1P1|ATP5GP3	14q32.33	ATP synthase membrane subunit c locus 1 pseudogene 1	-
ATP5MC2	chr12	 53665170	53681423	-	ENSG00000135390	protein-coding	ATP5A|ATP5G2	12q13.13	ATP synthase membrane subunit c locus 2	This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c of the proton channel and they specify precursors with different import sequences but identical mature proteins. The protein encoded by this gene is one of three precursors of subunit c. This gene has multiple pseudogenes. [provided by RefSeq, Jan 2018]
ATP5MC3	chr2	 175176258	175181710	-	ENSG00000154518	protein-coding	ATP5G3|P3	2q31.1	ATP synthase membrane subunit c locus 3	This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding different proteins have been identified. [provided by RefSeq, Jun 2010]
ATP5ME	chr4	 672436	674276	-	ENSG00000169020	protein-coding	ATP5I|ATP5K	4p16.3	ATP synthase membrane subunit e	Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the e subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]
ATP5MF	chr7	 99458195	99466167	-	ENSG00000241468	protein-coding	ATP5J2|ATP5JL	7q22.1	ATP synthase membrane subunit f	Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of five different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene. [provided by RefSeq, Nov 2010]
ATP5MG	chr11	 118401606	118409847	+	ENSG00000167283	protein-coding	ATP5JG|ATP5L	11q23.3	ATP synthase membrane subunit g	Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the g subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]
ATP5MGL	chr22	 42639803	42640601	-	ENSG00000249222	protein-coding	ATP5K2|ATP5L2	22q13.2	ATP synthase membrane subunit g like	-
ATP5MGP6	chr17	 76202526	76202796	-	-	pseudogene	ATP5LP6	17q25.1	ATP synthase membrane subunit g pseudogene 6	-
ATP5MJ	chr14	 103912288	103921529	-	ENSG00000156411	protein-coding	6.8PL|ATP5MPL|C14orf2|MLQ|MP68|PLPM	14q32.33	ATP synthase membrane subunit j	-
ATP5MK	chr10	 103389050	103396475	-	ENSG00000173915	protein-coding	AGP|ATP5MD|DAPIT|HCVFTP2|MC5DN6|USMG5|bA792D24.4	10q24.33	ATP synthase membrane subunit k	-
ATP5PB	chr1	 111449464	111462773	+	ENSG00000116459	protein-coding	ATP5F1|PIG47	1p13.2	ATP synthase peripheral stalk-membrane subunit b	This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008]
ATP5PBP5	chr11	 122960253	122961284	+	-	pseudogene	ATP5F1P5	11q24.1	ATP synthase peripheral stalk-membrane subunit b pseudogene 5	-
ATP5PBP7	chr16	 75708859	75709865	-	-	pseudogene	ATP5F1P7	16q23.1	ATP synthase peripheral stalk-membrane subunit b pseudogene 7	-
ATP5PD	chr17	 75038863	75046969	-	ENSG00000167863	protein-coding	APT5H|ATP5H|ATPQ	17q25.1	ATP synthase peripheral stalk subunit d	Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the d subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15. [provided by RefSeq, Jun 2010]
ATP5PF	chr21	 25724500	25735653	-	ENSG00000154723	protein-coding	ATP5|ATP5A|ATP5J|ATPM|CF6|F6	21q21.3	ATP synthase peripheral stalk subunit F6	Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo complex has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the Fo complex. The F6 subunit is required for F1 and Fo interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has 1 or more pseudogenes. [provided by RefSeq, Feb 2016]
ATP5PO	chr21	 33903453	33915804	-	ENSG00000241837	protein-coding	ATP5O|ATPO|HMC08D05|OSCP	21q22.11	ATP synthase peripheral stalk subunit OSCP	The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008]
ATP6AP1	chrX	154428632	154436516	+	ENSG00000071553.16	protein_coding	16A|ATP6IP1|ATP6S1|Ac45|CF2|VATPS1|XAP-3|XAP3	Xq28	ATPase H+ transporting accessory protein 1	This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013]
ATP6AP1L	chr5	82279462	82386977	+	ENSG00000205464.11	protein_coding	-	5q14.2	ATPase H+ transporting accessory protein 1 like (pseudogene)	-
ATP6V0A1	chr17	42458844	42522611	+	ENSG00000033627.16	protein_coding	ATP6N1|ATP6N1A|Stv1|VPP1|Vph1|a1	17q21.2	ATPase H+ transporting V0 subunit a1	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c, c, and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ATP6V0A2	chr12	123712318	123761755	+	ENSG00000185344.13	protein_coding	A2|ARCL|ARCL2A|ATP6A2|ATP6N1D|J6B7|RTF|STV1|TJ6|TJ6M|TJ6S|VPH1|WSS|a2V	12q24.31	ATPase H+ transporting V0 subunit a2	The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009]
ATP6V0B	chr1	43974487	43978295	+	ENSG00000117410.13	protein_coding	ATP6F|HATPL|VMA16	1p34.1	ATPase H+ transporting V0 subunit b	This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
ATP6V0C	chr16	2513870	2520218	+	ENSG00000185883.11	protein_coding	ATP6C|ATP6L|ATPL|VATL|VPPC|Vma3	16p13.3	ATPase H+ transporting V0 subunit c	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c, c, and d. This gene encodes the V0 subunit c. Alternative splicing results in transcript variants. Pseudogenes have been identified on chromosomes 6 and 17. [provided by RefSeq, Nov 2010]
ATP6V0CP3	chr6	42727234	42727700	+	ENSG00000213435.3	processed_pseudogene	-	6p21.1	ATPase H+ transporting V0 subunit c pseudogene 3	-
ATP6V0D1	chr16	67438014	67481237	-	ENSG00000159720.11	protein_coding	ATP6D|ATP6DV|P39|VATX|VMA6|VPATPD	16q22.1	ATPase H+ transporting V0 subunit d1	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c, c, and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008]
ATP6V0E1	chr5	172983757	173035445	+	ENSG00000113732.8	protein_coding	ATP6H|ATP6V0E|M9.2|Vma21|Vma21p	5q35.1	ATPase H+ transporting V0 subunit e1	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c, c, and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. [provided by RefSeq, Jul 2008]
ATP6V0E1P1	chr5	132948493	132948718	+	ENSG00000225364.1	processed_pseudogene	-	5q31.1	ATPase H+ transporting V0 subunit e1 pseudogene 1	-
ATP6V0E2	chr7	149872968	149880698	+	ENSG00000171130.17	protein_coding	ATP6V0E2L|C7orf32	7q36.1	ATPase H+ transporting V0 subunit e2	Multisubunit vacuolar-type proton pumps, or H(+)-ATPases, acidify various intracellular compartments, such as vacuoles, clathrin-coated and synaptic vesicles, endosomes, lysosomes, and chromaffin granules. H(+)-ATPases are also found in plasma membranes of specialized cells, where they play roles in urinary acidification, bone resorption, and sperm maturation. Multiple subunits form H(+)-ATPases, with proteins of the V1 class hydrolyzing ATP for energy to transport H+, and proteins of the V0 class forming an integral membrane domain through which H+ is transported. ATP6V0E2 encodes an isoform of the H(+)-ATPase V0 e subunit, an essential proton pump component (Blake-Palmer et al., 2007 [PubMed 17350184]).[supplied by OMIM, Mar 2008]
ATP6V1A	chr3	113747019	113812056	+	ENSG00000114573.9	protein_coding	ARCL2D|ATP6A1|ATP6V1A1|DEE93|HO68|IECEE3|VA68|VPP2|Vma1	3q13.31	ATPase H+ transporting V1 subunit A	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c, c, and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008]
ATP6V1B1	chr2	70935882	70965406	+	ENSG00000116039.11	protein_coding	ATP6B1|DRTA2|RTA1B|VATB|VMA2|VPP3	2p13.3	ATPase H+ transporting V1 subunit B1	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c, c, and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]
ATP6V1B2	chr8	20197367	20226819	+	ENSG00000147416.10	protein_coding	ATP6B1B2|ATP6B2|DOOD|HO57|VATB|VPP3|Vma2|ZLS2	8p21.3	ATPase H+ transporting V1 subunit B2	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008]
ATP6V1C2	chr2	10721649	10785110	+	ENSG00000143882.10	protein_coding	ATP6C2|VMA5	2p25.1	ATPase H+ transporting V1 subunit C2	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008]
ATP6V1D	chr14	67294371	67360265	-	ENSG00000100554.11	protein_coding	ATP6M|VATD|VMA8	14q23.3	ATPase H+ transporting V1 subunit D	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c, c, and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008]
ATP6V1E1	chr22	17592136	17628818	-	ENSG00000131100.12	protein_coding	ARCL2C|ATP6E|ATP6E2|ATP6V1E|P31|Vma4	22q11.21	ATPase H+ transporting V1 subunit E1	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]
ATP6V1E2	chr2	46490750	46542557	-	ENSG00000250565.6	protein_coding	ATP6E1|ATP6EL2|ATP6V1EL2|VMA4	2p21|2p16-p12	ATPase H+ transporting V1 subunit E2	Broad expression in testis (RPKM 6.7), thyroid (RPKM 1.5) and 20 other tissues
ATP6V1F	chr7	128862826	128865844	+	ENSG00000128524.4	protein_coding	ATP6S14|VATF|Vma7	7q32.1	ATPase H+ transporting V1 subunit F	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c, c, and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is the V1 domain F subunit protein. [provided by RefSeq, Jul 2008]
ATP6V1G1	chr9	114587746	114598373	+	ENSG00000136888.6	protein_coding	ATP6G|ATP6G1|ATP6GL|ATP6J|Vma10	9q32	ATPase H+ transporting V1 subunit G1	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of three V1 domain G subunit proteins. Pseudogenes of this gene have been characterized. [provided by RefSeq, Jul 2008]
ATP6V1G1P2	chr8	47194002	47194347	-	ENSG00000253502.1	processed_pseudogene	ATP6V1GP2	8q11.1	ATPase H+ transporting V1 subunit G1 pseudogene 2	-
ATP6V1G2	chr6	31544462	31548427	-	ENSG00000213760.10	protein_coding	ATP6G|ATP6G2|NG38|VMA10	6p21.33	ATPase H+ transporting V1 subunit G2	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c, c, and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene. [provided by RefSeq, Feb 2011]
ATP7A	chrX	77910656	78050395	+	ENSG00000165240.18	protein_coding	DSMAX|MK|MNK|SMAX3	Xq21.1	ATPase copper transporting alpha	This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalizes to the plasma membrane under conditions of elevated extracellular copper, and functions in the efflux of copper from cells. Mutations in this gene are associated with Menkes disease, X-linked distal spinal muscular atrophy, and occipital horn syndrome. Alternatively-spliced transcript variants have been observed. [provided by RefSeq, Aug 2013]
ATP7B	chr13	51930436	52012125	-	ENSG00000123191.14	protein_coding	PWD|WC1|WD|WND	13q14.3	ATPase copper transporting beta	This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]
ATP8A1	chr4	42408373	42657105	-	ENSG00000124406.16	protein_coding	ATPASEII|ATPIA|ATPP2	4p13	ATPase phospholipid transporting 8A1	The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ATP8A2P2	chr13	32477274	32478841	+	ENSG00000229800.1	processed_pseudogene	-	13q13.1	ATPase phospholipid transporting 8A2 pseudogene 2	-
ATP8B1	chr18	57646426	57803101	-	ENSG00000081923.11	protein_coding	ATPIC|BRIC|FIC1|ICP1|PFIC|PFIC1	18q21.31	ATPase phospholipid transporting 8B1	This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008]
ATP8B2	chr1	154325553	154351307	+	ENSG00000143515.16	protein_coding	ATPID	1q21.3	ATPase phospholipid transporting 8B2	The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
ATP8B3	chr19	1782075	1812276	-	ENSG00000130270.16	protein_coding	ATPIK	19p13.3	ATPase phospholipid transporting 8B3	The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to the other. This gene encodes member 3 of phospholipid-transporting ATPase 8B; other members of this protein family are located on chromosomes 1, 15 and 18. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
ATP8B4	chr15	49858238	50182817	-	ENSG00000104043.14	protein_coding	ATPIM	15q21.2	ATPase phospholipid transporting 8B4 (putative)	This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
ATP9A	chr20	51596514	51768634	-	ENSG00000054793.13	protein_coding	ATPIIA	20q13.2	ATPase phospholipid transporting 9A (putative)	Broad expression in brain (RPKM 35.7), thyroid (RPKM 11.3) and 18 other tissues
ATP9B	chr18	79069285	79378283	+	ENSG00000166377.19	protein_coding	ATPASEP|ATPIIB|HUSSY-20|NEO1L|hMMR1	18q23	ATPase phospholipid transporting 9B (putative)	Ubiquitous expression in testis (RPKM 2.8), thyroid (RPKM 2.2) and 25 other tissues
ATPAF1	chr1	46632737	46673867	-	ENSG00000123472.12	protein_coding	ATP11|ATP11p	1p33	ATP synthase mitochondrial F1 complex assembly factor 1	This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
ATPAF2	chr17	17977409	18039209	-	ENSG00000171953.15	protein_coding	ATP12|ATP12p|LP3663|MC5DN1	17p11.2	ATP synthase mitochondrial F1 complex assembly factor 2	This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
ATPSCKMT	chr5	 10225507	10249888	-	ENSG00000150756	protein-coding	FAM173B|JS-2|hFAM173B	5p15.2	ATP synthase c subunit lysine N-methyltransferase	Ubiquitous expression in fat (RPKM 4.0), adrenal (RPKM 3.9) and 25 other tissues
ATR	chr3	142449235	142578826	-	ENSG00000175054.14	protein_coding	FCTCS|FRP1|MEC1|SCKL|SCKL1	3q23	ATR serine/threonine kinase	The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replication and mitosis, and can promote DNA repair, recombination, and apoptosis. This protein is also important for fragile site stability and centrosome duplication. Defects in this gene are a cause of Seckel syndrome 1. [provided by RefSeq, Aug 2017]
ATRAID	chr2	27212027	27217178	+	ENSG00000138085.16	protein_coding	APR--3|APR-3|APR3|C2orf28|HSPC013|PRO240|p18	2p23.3	all-trans retinoic acid induced differentiation factor	This gene is thought to be involved in apoptosis, and may also be involved in hematopoietic development and differentiation. The use of alternative splice sites and promotors result in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2009]
ATRIP	chr3	48446710	48465716	+	ENSG00000164053.19	protein_coding	-	3p21.31	ATR interacting protein	Note: GeneID 11277 was annotated as a single gene with two non-overlapping coding regions. GeneID 11277 now represents only the downstream coding region encoding three prime repair exonuclease 1. The upstream coding region is represented by geneID 84126. [29 May 2007]
ATRN	chr20	3471040	3651122	+	ENSG00000088812.17	protein_coding	DPPT-L|MGCA	20p13	attractin	This gene encodes both membrane-bound and secreted protein isoforms. A membrane-bound isoform exhibits sequence similarity with the mouse mahogany protein, a receptor involved in controlling obesity. A secreted isoform is involved in the initial immune cell clustering during inflammatory responses that may regulate the chemotactic activity of chemokines. [provided by RefSeq, Apr 2016]
ATRNL1	chr10	115093365	115948992	+	ENSG00000107518.16	protein_coding	ALP|bA338L11.1|bA454H24.1	10q25.3	attractin like 1	Biased expression in brain (RPKM 4.2), ovary (RPKM 1.8) and 5 other tissues
ATXN1	chr6	16299112	16761491	-	ENSG00000124788.17	protein_coding	ATX1|D6S504E|SCA1	6p22.3	ataxin 1	The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames. [provided by RefSeq, Nov 2017]
ATXN10	chr22	45671798	45845307	+	ENSG00000130638.16	protein_coding	E46L|HUMEEP|SCA10	22q13.31	ataxin 10	This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jul 2016]
ATXN1L	chr16	71845991	71885268	+	ENSG00000224470.7	protein_coding	BOAT|BOAT1	16q22.2	ataxin 1 like	Ubiquitous expression in bone marrow (RPKM 17.2), kidney (RPKM 12.6) and 25 other tissues
ATXN2	chr12	111452214	111599676	-	ENSG00000204842.14	protein_coding	ATX2|SCA2|TNRC13	12q24.12	ataxin 2	This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
ATXN2-AS	chr12	111599498	111600256	+	ENSG00000258099.1	antisense	-	12q24.12	ATXN2 antisense RNA	-
ATXN2L	chr16	28823035	28837237	+	ENSG00000168488.18	protein_coding	A2D|A2LG|A2LP|A2RP	16p11.2	ataxin 2 like	This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ATXN3	chr14	92038652	92106621	-	ENSG00000066427.21	protein_coding	AT3|ATX3|JOS|MJD|MJD1|SCA3	14q32.12	ataxin 3	Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]
ATXN7	chr3	63864557	64003462	+	ENSG00000163635.17	protein_coding	ADCAII|OPCA3|SCA7|SGF73	3p14.1	ataxin 7	The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the pure cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 37-306 CAG repeats (near the N-terminus), compared to 4-35 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
ATXN7L1	chr7	105605067	105876604	-	ENSG00000146776.14	protein_coding	ATXN7L4	7q22.3	ataxin 7 like 1	Ubiquitous expression in testis (RPKM 2.9), kidney (RPKM 1.4) and 24 other tissues
ATXN7L2	chr1	109483479	109492804	+	ENSG00000162650.16	protein_coding	-	1p13.3	ataxin 7 like 2	-
ATXN7L3	chr17	44191805	44200113	-	ENSG00000087152.15	protein_coding	SGF11	17q21.31	ataxin 7 like 3	Ubiquitous expression in brain (RPKM 19.9), testis (RPKM 15.6) and 25 other tissues
AUH	chr9	91213815	91361913	-	ENSG00000148090.11	protein_coding	-	9q22.31	AU RNA binding methylglutaconyl-CoA hydratase	Ubiquitous expression in kidney (RPKM 3.8), prostate (RPKM 3.1) and 25 other tissues
AUNIP	chr1	25831913	25859458	-	ENSG00000127423.10	protein_coding	AIBP|C1orf135	1p36.11	aurora kinase A and ninein interacting protein	Broad expression in testis (RPKM 11.8), adrenal (RPKM 7.3) and 24 other tissues
AUP1	chr2	74526645	74529939	-	ENSG00000115307.16	protein_coding	-	2p13.1	AUP1 lipid droplet regulating VLDL assembly factor	Ubiquitous expression in bone marrow (RPKM 42.2), duodenum (RPKM 40.5) and 25 other tissues
AURKA	chr20	56369389	56392337	-	ENSG00000087586.17	protein_coding	AIK|ARK1|AURA|BTAK|PPP1R47|STK15|STK6|STK7	20q13.2	aurora kinase A	The protein encoded by this gene is a cell cycle-regulated kinase that appears to be involved in microtubule formation and/or stabilization at the spindle pole during chromosome segregation. The encoded protein is found at the centrosome in interphase cells and at the spindle poles in mitosis. This gene may play a role in tumor development and progression. A processed pseudogene of this gene has been found on chromosome 1, and an unprocessed pseudogene has been found on chromosome 10. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
AURKAIP1	chr1	1373730	1375495	-	ENSG00000175756.13	protein_coding	AIP|AKIP|MRP-S38	1p36.33	aurora kinase A interacting protein 1	Ubiquitous expression in testis (RPKM 40.0), kidney (RPKM 27.3) and 25 other tissues
AURKB	chr17	8204733	8210600	-	ENSG00000178999.12	protein_coding	AIK2|AIM-1|AIM1|ARK-2|ARK2|AurB|IPL1|PPP1R48|STK-1|STK12|STK5|aurkb-sv1|aurkb-sv2	17p13.1	aurora kinase B	This gene encodes a member of the aurora kinase subfamily of serine/threonine kinases. The genes encoding the other two members of this subfamily are located on chromosomes 19 and 20. These kinases participate in the regulation of alignment and segregation of chromosomes during mitosis and meiosis through association with microtubules. A pseudogene of this gene is located on chromosome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]
AUTS2	chr7	69598919	70793068	+	ENSG00000158321.15	protein_coding	FBRSL2|MRD26	7q11.22	activator of transcription and developmental regulator AUTS2	This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]
AVIL	chr12	57797376	57818704	-	ENSG00000135407.10	protein_coding	ADVIL|DOC6|NPHS21|p92	12q14.1	advillin	The protein encoded by this gene is a member of the gelsolin/villin family of actin regulatory proteins. This protein has structural similarity to villin. It binds actin and may play a role in the development of neuronal cells that form ganglia. [provided by RefSeq, Jul 2008]
AVL9	chr7	32495426	32588721	+	ENSG00000105778.18	protein_coding	KIAA0241	7p14.3	AVL9 cell migration associated	Ubiquitous expression in brain (RPKM 9.9), colon (RPKM 8.5) and 25 other tissues
AVPI1	chr10	97677424	97687323	-	ENSG00000119986.6	protein_coding	PP5395|VIP32|VIT32	10q24.2	arginine vasopressin induced 1	Ubiquitous expression in adrenal (RPKM 14.7), colon (RPKM 12.7) and 25 other tissues
AVPR1A	chr12	63142759	63150942	-	ENSG00000166148.3	protein_coding	AVPR V1a|AVPR1|V1aR	12q14.2	arginine vasopressin receptor 1A	The protein encoded by this gene acts as receptor for arginine vasopressin. This receptor belongs to the subfamily of G-protein coupled receptors which includes AVPR1B, V2R and OXT receptors. Its activity is mediated by G proteins which stimulate a phosphatidylinositol-calcium second messenger system. The receptor mediates cell contraction and proliferation, platelet aggregation, release of coagulation factor and glycogenolysis. [provided by RefSeq, Jul 2008]
AXIN1	chr16	287440	352673	-	ENSG00000103126.14	protein_coding	AXIN|PPP1R49	16p13.3	axin 1	This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
AXIN2	chr17	65528563	65561647	-	ENSG00000168646.12	protein_coding	AXIL|ODCRCS	17q24.1	axin 2	The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil. In mouse, conductin organizes a multiprotein complex of APC (adenomatous polyposis of the colon), beta-catenin, glycogen synthase kinase 3-beta, and conductin, which leads to the degradation of beta-catenin. Apparently, the deregulation of beta-catenin is an important event in the genesis of a number of malignancies. The AXIN2 gene has been mapped to 17q23-q24, a region that shows frequent loss of heterozygosity in breast cancer, neuroblastoma, and other tumors. Mutations in this gene have been associated with colorectal cancer with defective mismatch repair. [provided by RefSeq, Jul 2008]
AXL	chr19	41219203	41261766	+	ENSG00000167601.11	protein_coding	ARK|JTK11|Tyro7|UFO	19q13.2	AXL receptor tyrosine kinase	The protein encoded by this gene is a member of the Tyro3-Axl-Mer (TAM) receptor tyrosine kinase subfamily. The encoded protein possesses an extracellular domain which is composed of two immunoglobulin-like motifs at the N-terminal, followed by two fibronectin type-III motifs. It transduces signals from the extracellular matrix into the cytoplasm by binding to the vitamin K-dependent protein growth arrest-specific 6 (Gas6). This gene may be involved in several cellular functions including growth, migration, aggregation and anti-inflammation in multiple cell types. The encoded protein acts as a host cell receptor for multiple viruses, including Marburg, Ebola and Lassa viruses and is a candidate receptor for the SARS-CoV2 virus. [provided by RefSeq, Sep 2021]
AZGP1	chr7	99966720	99976157	-	ENSG00000160862.12	protein_coding	ZA2G|ZAG	7q22.1	alpha-2-glycoprotein 1, zinc-binding	Biased expression in salivary gland (RPKM 748.1), liver (RPKM 688.6) and 5 other tissues
AZI2	chr3	28315003	28349127	-	ENSG00000163512.13	protein_coding	AZ2|NAP1|TILP	3p24.1	5-azacytidine induced 2	AZI2, or NAP1, contributes to the activation of NFKB (see MIM 164011)-dependent gene expression by activating IKK-related kinases, such as NAK (TBK1; MIM 604834) (Fujita et al., 2003 [PubMed 14560022]).[supplied by OMIM, Mar 2008]
AZIN1	chr8	102826357	102893864	-	ENSG00000155096.13	protein_coding	AZI|AZI1|AZIA1|OAZI|OAZIN|ODC1L	8q22.3	antizyme inhibitor 1	The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 1, the first member of this gene family that is ubiquitously expressed, and is localized in the nucleus and cytoplasm. Overexpression of antizyme inhibitor 1 gene has been associated with increased proliferation, cellular transformation and tumorigenesis. Gene knockout studies showed that homozygous mutant mice lacking functional antizyme inhibitor 1 gene died at birth with abnormal liver morphology. RNA editing of this gene, predominantly in the liver tissue, has been linked to the progression of hepatocellular carcinoma. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014]
AZIN2	chr1	33081104	33120530	+	ENSG00000142920.16	protein_coding	ADC|AZI2|AZIB1|ODC-p|ODC1L|ODCp	1p35.1	antizyme inhibitor 2	The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 2, the second member of this gene family. Like antizyme inhibitor 1, antizyme inhibitor 2 interacts with all 3 antizymes and stimulates ODC activity and polyamine uptake. However, unlike antizyme inhibitor 1, which is ubiquitously expressed and localized in the nucleus and cytoplasm, antizyme inhibitor 2 is predominantly expressed in the brain and testis and localized in the endoplasmic reticulum-golgi intermediate compartment. Recent studies indicate that antizyme inhibitor 2 is also expressed in specific cell types in ovaries, adrenal glands and pancreas, and in mast cells. The exact function of this gene is not known, however, available data suggest its role in cell growth, spermiogenesis, vesicular trafficking and secretion. Accumulation of antizyme inhibitor 2 has also been observed in brains of patients with Alzheimers disease. There has been confusion in literature and databases over the nomenclature of this gene, stemming from an earlier report that a human cDNA clone (identical to ODCp/AZIN2) had arginine decarboxylase (ADC) activity (PMID:14738999). Subsequent studies in human and mouse showed that antizyme inhibitor 2 was devoid of arginine decarboxylase activity (PMID:19956990). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014]
AZU1	chr19	825097	832018	+	ENSG00000172232.9	protein_coding	AZAMP|AZU|CAP37|HBP|HUMAZUR|NAZC|hHBP	19p13.3	azurocidin 1	Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. This gene encodes a preproprotein that is proteolytically processed to generate a mature azurophil granule antibiotic protein, with monocyte chemotactic and antimicrobial activity. It is also an important multifunctional inflammatory mediator. This encoded protein is a member of the serine protease gene family but it is not a serine proteinase, because the active site serine and histidine residues are replaced. The genes encoding this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, Nov 2015]
B2M	chr15	44711477	44718877	+	ENSG00000166710.17	protein_coding	IMD43	15q21.1	beta-2-microglobulin	This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014]
B3GALNT1	chr3	161083883	161105384	-	ENSG00000169255.13	protein_coding	B3GALT3|GLCT3|GLOB|Gb4Cer|P1|beta3Gal-T3|galT3	3q26.1	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017]
B3GALNT2	chr1	235449923	235504481	-	ENSG00000162885.12	protein_coding	B3GalNAc-T2|MDDGA11	1q42.3	beta-1,3-N-acetylgalactosaminyltransferase 2	This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]
B3GALT1	chr2	167868948	167874041	+	ENSG00000172318.5	protein_coding	beta3Gal-T1	2q24.3	beta-1,3-galactosyltransferase 1	This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is expressed exclusively in the brain. The encoded protein shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]
B3GALT2	chr1	193179045	193186654	-	ENSG00000162630.5	protein_coding	BETA3GALT2|GLCT2|beta3Gal-T2	1q31.2	beta-1,3-galactosyltransferase 2	This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes a protein that functions in N-linked glycoprotein glycosylation and shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]
B3GALT4	chr6	33277132	33284832	+	ENSG00000235863.3	protein_coding	BETA3GALT4|GALT2|GALT4	6p21.32	beta-1,3-galactosyltransferase 4	This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglioseries glycolipid biosynthesis. [provided by RefSeq, Jul 2008]
B3GALT5	chr21	39556442	39673137	+	ENSG00000183778.17	protein_coding	B3GalT-V|B3GalTx|B3T5|GLCT5|beta-1,3-GalTase 5|beta-3-Gx-T5|beta3Gal-T5	21q22.2	beta-1,3-galactosyltransferase 5	This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants using multiple alternate promoters have been observed for this gene. [provided by RefSeq, Sep 2017]
B3GALT5-AS1	chr21	39597147	39612821	-	ENSG00000184809.12	antisense	C21orf88	21q22.2	B3GALT5 antisense RNA 1	-
B3GALT6	chr1	1232265	1235041	+	ENSG00000176022.4	protein_coding	ALGAZ|EDSP2|EDSSPD2|SEMDJL1|beta3GalT6	1p36.33	beta-1,3-galactosyltransferase 6	The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013]
B3GAT1	chr11	134378504	134411918	-	ENSG00000109956.12	protein_coding	CD57|GLCATP|GLCUATP|HNK1|LEU7|NK-1|NK1	11q25	beta-1,3-glucuronyltransferase 1	The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
B3GAT2	chr6	70856679	70957038	-	ENSG00000112309.10	protein_coding	GLCATS	6q13	beta-1,3-glucuronyltransferase 2	The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008]
B3GAT3	chr11	62615296	62622175	-	ENSG00000149541.9	protein_coding	GLCATI|JDSCD|glcUAT-I	11q12.3	beta-1,3-glucuronyltransferase 3	The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013]
B3GAT3P1	chr3	160452598	160453403	+	ENSG00000244009.1	processed_pseudogene	B3GAT3P|PSIGLCAT-I	3q25.33	beta-1,3-glucuronyltransferase 3 pseudogene 1	-
B3GLCT	chr13	31199936	31332276	+	ENSG00000187676.7	protein_coding	B3GALTL|B3GTL|B3Glc-T|Gal-T|beta3Glc-T	13q12.3	beta 3-glucosyltransferase	The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009]
B3GNT2	chr2	62196113	62224731	+	ENSG00000170340.10	protein_coding	3-Gn-T1|3-Gn-T2|B3GN-T2|B3GNT|B3GNT-2|B3GNT1|BETA3GNT|BGNT2|BGnT-2|beta-1|beta3Gn-T1|beta3Gn-T2	2p15	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2016]
B3GNT3	chr19	17794828	17813082	+	ENSG00000179913.10	protein_coding	B3GAL-T8|B3GN-T3|B3GNT-3|HP10328|TMEM3|beta3Gn-T3	19p13.11	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein and contains a signal anchor that is not cleaved. It prefers the substrates of lacto-N-tetraose and lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains and the biosynthesis of the backbone structure of dimeric sialyl Lewis a. It plays dominant roles in L-selectin ligand biosynthesis, lymphocyte homing and lymphocyte trafficking. [provided by RefSeq, Jul 2008]
B3GNT4	chr12	122203543	122208952	+	ENSG00000176383.8	protein_coding	B3GN-T4|beta3Gn-T4	12q24.31	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008]
B3GNT6	chr11	77034398	77041973	+	ENSG00000198488.10	protein_coding	B3Gn-T6|BGnT-6|beta-1,3-Gn-T6|beta3Gn-T6	11q13.5	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6	The protein encoded by this gene is a beta-1,3-N-acetylglucosaminyltransferase that adds an N-acetylglucosamine moiety to N-acetylgalactosamine-modified serine or threonine. The encoded enzyme is responsible for creating the core 3 structure of O-glycans, which are important components of mucin-type glycoproteins. [provided by RefSeq, Dec 2016]
B3GNT7	chr2	231395543	231401164	+	ENSG00000156966.6	protein_coding	beta3GnT7	2q37.1|2q37.1	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	Biased expression in colon (RPKM 27.4), stomach (RPKM 7.8) and 8 other tissues
B3GNT8	chr19	41425359	41428730	-	ENSG00000177191.2	protein_coding	B3GALT7|BGALT15|beta3Gn-T8	19q13.2	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	Broad expression in small intestine (RPKM 4.8), duodenum (RPKM 4.7) and 15 other tissues
B3GNT9	chr16	67148105	67151214	-	ENSG00000237172.3	protein_coding	-	16q22.1	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9	-
B3GNTL1	chr17	82942155	83051810	-	ENSG00000175711.8	protein_coding	3-Gn-T8|B3GNT8|BGnT-8|beta-1|beta3Gn-T8|beta3GnTL1	17q25.3	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1	Ubiquitous expression in bone marrow (RPKM 1.9), skin (RPKM 1.8) and 25 other tissues
B4GALNT1	chr12	57623410	57633355	-	ENSG00000135454.13	protein_coding	GALGT|GALNACT|GalNAc-T|SPG26	12q13.3	beta-1,4-N-acetyl-galactosaminyltransferase 1	GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
B4GALNT2	chr17	49132460	49176840	+	ENSG00000167080.8	protein_coding	B4GALT|GALGT2	17q21.32	beta-1,4-N-acetyl-galactosaminyltransferase 2	B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008]
B4GALNT3	chr12	460364	563509	+	ENSG00000139044.10	protein_coding	-	12p13.33	beta-1,4-N-acetyl-galactosaminyltransferase 3	Biased expression in stomach (RPKM 33.1), colon (RPKM 16.3) and 11 other tissues
B4GALNT4	chr11	369796	382116	+	ENSG00000182272.11	protein_coding	-	11p15.5	beta-1,4-N-acetyl-galactosaminyltransferase 4	-
B4GALT1	chr9	33104082	33167356	-	ENSG00000086062.12	protein_coding	B4GAL-T1|CDG2D|GGTB2|GT1|GTB|beta4Gal-T1	9p21.1	beta-1,4-galactosyltransferase 1	This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5 end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. [provided by RefSeq, Jul 2008]
B4GALT2	chr1	43978943	43991170	+	ENSG00000117411.16	protein_coding	B4Gal-T2|B4Gal-T3|beta4Gal-T2	1p34.1	beta-1,4-galactosyltransferase 2	This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene synthesizes N-acetyllactosamine in glycolipids and glycoproteins. Its substrate specificity is affected by alpha-lactalbumin but it is not expressed in lactating mammary tissue. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
B4GALT3	chr1	161171310	161177968	-	ENSG00000158850.14	protein_coding	beta4Gal-T3	1q23.3	beta-1,4-galactosyltransferase 3	This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
B4GALT4	chr3	119211732	119241103	-	ENSG00000121578.12	protein_coding	B4Gal-T4|beta4Gal-T4	3q13.32	beta-1,4-galactosyltransferase 4	This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
B4GALT5	chr20	49632945	49713878	-	ENSG00000158470.5	protein_coding	B4Gal-T5|BETA4-GALT-IV|beta4Gal-T5|beta4GalT-V|gt-V	20q13.13	beta-1,4-galactosyltransferase 5	This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008]
B4GALT6	chr18	31622247	31685836	-	ENSG00000118276.11	protein_coding	B4Gal-T6|beta4Gal-T6	18q12.1	beta-1,4-galactosyltransferase 6	This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes in human. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. This gene produces multiple protein isoforms - some of which are predicted to lack the N-terminal hydrophobic signal sequence and transmembrane domain. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The canonical enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jan 2020]
B4GALT7	chr5	177600100	177610347	+	ENSG00000027847.13	protein_coding	EDSP1|EDSSLA|EDSSPD1|XGALT1|XGPT|XGPT1	5q35.3	beta-1,4-galactosyltransferase 7	This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009]
B4GAT1	chr11	66345372	66347692	-	ENSG00000174684.6	protein_coding	B3GN-T1|B3GNT1|B3GNT6|BETA3GNTI|MDDGA13|iGAT|iGNT	11q13.2	beta-1,4-glucuronyltransferase 1	This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008]
B9D1	chr17	19337554	19378182	-	ENSG00000108641.14	protein_coding	B9|EPPB9|JBTS27|MKS9|MKSR-1|MKSR1	17p11.2	B9 domain containing 1	This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]
B9D2	chr19	41354421	41364173	-	ENSG00000123810.7	protein_coding	ICIS-1|JBTS34|MKS10|MKSR-2|MKSR2	19q13.2	B9 domain containing 2	This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects. [provided by RefSeq, Oct 2009]
BAALC	chr8	103140710	103230305	+	ENSG00000164929.16	protein_coding	-	8q22.3	BAALC binder of MAP3K1 and KLF4	Biased expression in brain (RPKM 101.5), adrenal (RPKM 7.1) and 1 other tissue
BABAM1	chr19	17267350	17281249	+	ENSG00000105393.15	protein_coding	C19orf62|HSPC142|MERIT40|NBA1	19p13.11	BRISC and BRCA1 A complex member 1	Ubiquitous expression in brain (RPKM 26.7), placenta (RPKM 25.8) and 25 other tissues
BABAM2	chr2	 27888709	28338901	+	ENSG00000158019	protein-coding	BRCC4|BRCC45|BRE	2p23.2	BRISC and BRCA1 A complex member 2	This gene encodes an anti-apoptotic, death receptor-associated protein that interacts with tumor necrosis factor-receptor-1. The encoded protein acts as an adapter in several protein complexes, including the BRCA1-A complex and the BRISC complex. The BRCA1-A complex possesses ubiquitinase activity and targets sites of double strand DNA breaks, while the BRISC complex exhibits deubiquitinase activity and is involved in mitotic spindle assembly. This gene is upregulated in several types of cancer. [provided by RefSeq, Jun 2016]
BACE1	chr11	117285207	117316259	-	ENSG00000186318.16	protein_coding	ASP2|BACE|HSPC104	11q23.3	beta-secretase 1	This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein. Amyloid beta peptides are the main constituent of amyloid beta plaques, which accumulate in the brains of human Alzheimers disease patients. [provided by RefSeq, Nov 2015]
BACE2	chr21	41167801	41282518	+	ENSG00000182240.15	protein_coding	AEPLC|ALP56|ASP1|ASP21|BAE2|CDA13|CEAP1|DRAP	21q22.2-q22.3	beta-secretase 2	This gene encodes an integral membrane glycoprotein that functions as an aspartic protease. The encoded protein cleaves amyloid precursor protein into amyloid beta peptide, which is a critical step in the etiology of Alzheimers disease and Down syndrome. The protein precursor is further processed into an active mature peptide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
BACH1	chr21	29194071	29630751	+	ENSG00000156273.15	protein_coding	BACH-1|BTBD24	21q21.3	BTB domain and CNC homolog 1	This gene encodes a transcription factor that belongs to the capncollar type of basic region leucine zipper factor family (CNC-bZip). The encoded protein contains broad complex, tramtrack, bric-a-brac/poxvirus and zinc finger (BTB/POZ) domains, which is atypical of CNC-bZip family members. These BTB/POZ domains facilitate protein-protein interactions and formation of homo- and/or hetero-oligomers. When this encoded protein forms a heterodimer with MafK, it functions as a repressor of Maf recognition element (MARE) and transcription is repressed. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, May 2009]
BACH1-IT1	chr21	29351634	29361894	+	ENSG00000248476.1	sense_intronic	-	-	-	-
BACH2	chr6	89926529	90296908	-	ENSG00000112182.14	protein_coding	BTBD25|IMD60	6q15	BTB domain and CNC homolog 2	Biased expression in lymph node (RPKM 7.1), appendix (RPKM 2.5) and 10 other tissues
BAD	chr11	64269830	64284704	-	ENSG00000002330.13	protein_coding	BBC2|BCL2L8	11q13.1	BCL2 associated agonist of cell death	The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL (B-cell lymphoma-extra large) and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. [provided by RefSeq, Dec 2019]
BAG1	chr9	33247820	33264720	-	ENSG00000107262.18	protein_coding	BAG-1|HAP|RAP46	9p13.3	BAG cochaperone 1	The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to BCL2 and is referred to as BCL2-associated athanogene. It enhances the anti-apoptotic effects of BCL2 and represents a link between growth factor receptors and anti-apoptotic mechanisms. Multiple protein isoforms are encoded by this mRNA through the use of a non-AUG (CUG) initiation codon, and three alternative downstream AUG initiation codons. A related pseudogene has been defined on chromosome X. [provided by RefSeq, Feb 2010]
BAG2	chr6	57172326	57189833	+	ENSG00000112208.11	protein_coding	BAG-2|dJ417I1.2	6p12.1	BAG cochaperone 2	BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The predicted BAG2 protein contains 211 amino acids. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]
BAG3	chr10	119651370	119677819	+	ENSG00000151929.9	protein_coding	BAG-3|BIS|CAIR-1|MFM6	10q26.11	BAG cochaperone 3	BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]
BAG4	chr8	38176533	38213301	+	ENSG00000156735.10	protein_coding	BAG-4|SODD	8p11.23	BAG cochaperone 4	The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. This protein was found to be associated with the death domain of tumor necrosis factor receptor type 1 (TNF-R1) and death receptor-3 (DR3), and thereby negatively regulates downstream cell death signaling. The regulatory role of this protein in cell death was demonstrated in epithelial cells which undergo apoptosis while integrin mediated matrix contacts are lost. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]
BAG5	chr14	103556544	103562831	-	ENSG00000166170.9	protein_coding	BAG-5	14q32.33	BAG cochaperone 5	The protein encoded by this gene is a member of the BAG1-related protein family. BAG1 is an anti-apoptotic protein that functions through interactions with a variety of cell apoptosis and growth related proteins including BCL-2, Raf-protein kinase, steroid hormone receptors, growth factor receptors and members of the heat shock protein 70 kDa family. This protein contains a BAG domain near the C-terminus, which could bind and inhibit the chaperone activity of Hsc70/Hsp70. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
BAG6	chr6	31639028	31652705	-	ENSG00000204463.12	protein_coding	BAG-6|BAT3|D6S52E|G3	6p21.33	BAG cochaperone 6	This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
BAHCC1	chr17	81395475	81466332	+	ENSG00000266074.8	protein_coding	BAHD2	17q25.3	BAH domain and coiled-coil containing 1	Predicted to enable chromatin binding activity. [provided by Alliance of Genome Resources, Apr 2022]
BAHD1	chr15	40439721	40468242	+	ENSG00000140320.11	protein_coding	-	15q15.1	bromo adjacent homology domain containing 1	-
BAIAP2	chr17	81035122	81117432	+	ENSG00000175866.15	protein_coding	BAP2|FLAF3|IRSP53|WAML	17q25.3	BAR/IMD domain containing adaptor protein 2	The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal growth-cone guidance. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]
BAIAP2-DT	chr17	 81029133	81034719	-	ENSG00000226137	ncRNA	BAIAP2-AS1|lnc-BAIAP2	17q25.3	BAIAP2 divergent transcript	Ubiquitous expression in brain (RPKM 9.6), lung (RPKM 7.0) and 23 other tissues
BAIAP2L1	chr7	98291651	98401068	-	ENSG00000006453.13	protein_coding	IRTKS	7q21.3-q22.1	BAR/IMD domain containing adaptor protein 2 like 1	This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation. [provided by RefSeq, Oct 2009]
BAIAP2L2	chr22	38084889	38110670	-	ENSG00000128298.16	protein_coding	-	22q13.1	BAR/IMD domain containing adaptor protein 2 like 2	Biased expression in duodenum (RPKM 28.1), small intestine (RPKM 24.8) and 4 other tissues
BAIAP3	chr16	1333601	1349441	+	ENSG00000007516.13	protein_coding	BAP3	16p13.3	BAI1 associated protein 3	This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
BAK1	chr6	33572547	33580293	-	ENSG00000030110.12	protein_coding	BAK|BAK-LIKE|BCL2L7|CDN1	6p21.31	BCL2 antagonist/killer 1	The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008]
BAK1P1	chr20	32690180	32690815	-	ENSG00000175730.8	processed_pseudogene	BAK2|BCL2L7P1|Bak-2	20q11.21	BCL2 antagonist/killer 1 pseudogene 1	-
BAMBI	chr10	28677342	28682939	+	ENSG00000095739.10	protein_coding	NMA	10p12.1	BMP and activin membrane bound inhibitor	This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. [provided by RefSeq, Jul 2008]
BANF1	chr11	66002079	66004149	+	ENSG00000175334.7	protein_coding	BAF|BCRP1|D14S1460|NGPS	11q13.1	BAF nuclear assembly factor 1	The protein encoded by this gene was first identified by its ability to protect retroviruses from intramolecular integration and therefore promote intermolecular integration into the host cell genome. The protein forms a homodimer which localizes to both the nucleus and cytoplasm and is specifically associated with chromosomes during mitosis. This protein binds to double stranded DNA in a non-specific manner and also binds to LEM-domain containing proteins of the nuclear envelope. This protein is thought to facilitate nuclear reassembly by binding with both DNA and inner nuclear membrane proteins and thereby recruit chromatin to the nuclear periphery. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Jan 2009]
BANF2	chr20	17693672	17735871	+	ENSG00000125888.14	protein_coding	BAF-L|BAF2|BAFL|C20orf179	20p12.1	BANF family member 2	Restricted expression toward testis (RPKM 14.5)
BANK1	chr4	101411286	102074812	+	ENSG00000153064.11	protein_coding	BANK	4q24	B cell scaffold protein with ankyrin repeats 1	The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
BANP	chr16	87949244	88077318	+	ENSG00000172530.20	protein_coding	BEND1|SMAR1|SMARBP1	16q24.2	BTG3 associated nuclear protein	This gene encodes a protein that binds to matrix attachment regions. The protein forms a complex with p53 and negatively regulates p53 transcription, and functions as a tumor suppressor and cell cycle regulator. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
BAP1	chr3	52401013	52410350	-	ENSG00000163930.9	protein_coding	HUCEP-13|UCHL2|hucep-6	3p21.1	BRCA1 associated protein 1	This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]
BARD1	chr2	214725646	214809711	-	ENSG00000138376.10	protein_coding	-	2q35	BRCA1 associated RING domain 1	Broad expression in testis (RPKM 4.0), bone marrow (RPKM 3.8) and 24 other tissues
BARHL2	chr1	90711539	90717237	-	ENSG00000143032.7	protein_coding	-	1p22.2	BarH like homeobox 2	-
BARX1	chr9	93951622	93955372	-	ENSG00000131668.13	protein_coding	-	9q22.32	BARX homeobox 1	Biased expression in stomach (RPKM 5.0), testis (RPKM 0.6) and 1 other tissue
BARX1-DT	chr9	 93955834	93957922	+	ENSG00000235601	ncRNA	BARX1-AS1	9q22.32	BARX1 divergent transcript	-
BARX2	chr11	129375940	129452279	+	ENSG00000043039.6	protein_coding	-	11q24.3	BARX homeobox 2	Biased expression in esophagus (RPKM 46.6), salivary gland (RPKM 29.6) and 9 other tissues
BASP1	chr5	17065598	17276843	+	ENSG00000176788.8	protein_coding	CAP-23|CAP23|NAP-22|NAP22	5p15.1	brain abundant membrane attached signal protein 1	This gene encodes a membrane bound protein with several transient phosphorylation sites and PEST motifs. Conservation of proteins with PEST sequences among different species supports their functional significance. PEST sequences typically occur in proteins with high turnover rates. Immunological characteristics of this protein are species specific. This protein also undergoes N-terminal myristoylation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2012]
BATF	chr14	75522425	75547015	+	ENSG00000156127.6	protein_coding	B-ATF|BATF1|SFA-2|SFA2	14q24.3	basic leucine zipper ATF-like transcription factor	The protein encoded by this gene is a nuclear basic leucine zipper protein that belongs to the AP-1/ATF superfamily of transcription factors. The leucine zipper of this protein mediates dimerization with members of the Jun family of proteins. This protein is thought to be a negative regulator of AP-1/ATF transcriptional events. [provided by RefSeq, Jul 2008]
BATF2	chr11	64987943	64997045	-	ENSG00000168062.9	protein_coding	SARI	11q13.1	basic leucine zipper ATF-like transcription factor 2	Broad expression in spleen (RPKM 7.0), appendix (RPKM 4.9) and 23 other tissues
BATF3	chr1	212686418	212699985	-	ENSG00000123685.8	protein_coding	JDP1|JUNDM1|SNFT	1q32.3	basic leucine zipper ATF-like transcription factor 3	This gene encodes a member of the basic leucine zipper protein family. The encoded protein functions as a transcriptional repressor when heterodimerizing with JUN. The protein may play a role in repression of interleukin-2 and matrix metalloproteinase-1 transcription.[provided by RefSeq, Feb 2009]
BAX	chr19	48954815	48961798	+	ENSG00000087088.19	protein_coding	BCL2L4	19q13.33	BCL2 associated X, apoptosis regulator	The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. The association and the ratio of BAX to BCL2 also determines survival or death of a cell following an apoptotic stimulus. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Dec 2019]
BAZ1A	chr14	34752731	34875647	-	ENSG00000198604.10	protein_coding	ACF1|WALp1|WCRF180|hACF1	14q13.1-q13.2	bromodomain adjacent to zinc finger domain 1A	The BAZ1A gene encodes the accessory subunit of the ATP-dependent chromatin assembly factor (ACF), a member of the ISWI (imitation switch) family of chromatin remodeling complexes (summarized by Racki et al., 2009 [PubMed 20033039]).[supplied by OMIM, Apr 2010]
BAZ1B	chr7	73440398	73522278	-	ENSG00000009954.10	protein_coding	WBSCR10|WBSCR9|WSTF	7q11.23	bromodomain adjacent to zinc finger domain 1B	This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]
BAZ2A	chr12	56595596	56636816	-	ENSG00000076108.11	protein_coding	TIP5|WALp3	12q13.3	bromodomain adjacent to zinc finger domain 2A	Ubiquitous expression in testis (RPKM 26.6), placenta (RPKM 20.1) and 25 other tissues
BAZ2B	chr2	159318979	159616692	-	ENSG00000123636.17	protein_coding	WALp4	2q24.2	bromodomain adjacent to zinc finger domain 2B	This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden cardiac death (SCD). [provided by RefSeq, Aug 2016]
BBC3	chr19	47220822	47232766	-	ENSG00000105327.17	protein_coding	JFY-1|JFY1|PUMA	19q13.32	BCL2 binding component 3	This gene encodes a member of the BCL-2 family of proteins. This family member belongs to the BH3-only pro-apoptotic subclass. The protein cooperates with direct activator proteins to induce mitochondrial outer membrane permeabilization and apoptosis. It can bind to anti-apoptotic Bcl-2 family members to induce mitochondrial dysfunction and caspase activation. Because of its pro-apoptotic role, this gene is a potential drug target for cancer therapy and for tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
BBIP1	chr10	110898730	110919274	-	ENSG00000214413.7	protein_coding	BBIP10|BBS18|NCRNA00081|bA348N5.3	10q25.2	BBSome interacting protein 1	This gene encodes one of eight proteins that form the BBSome complex and is essential for its assembly. The BBSome complex is involved in trafficking signal receptors to and from the cilia. Mutations in this gene result in Bardet-Biedl syndrome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
BBIP1P1	chr2	101068378	101068656	+	ENSG00000271532.1	processed_pseudogene	-	2q11.2	BBSome interacting protein 1 pseudogene 1	-
BBOF1	chr14	74019353	74082863	+	ENSG00000119636.15	protein_coding	C14orf45|CCDC176|FBB10	14q24.3	basal body orientation factor 1	Broad expression in kidney (RPKM 30.8), liver (RPKM 16.1) and 17 other tissues
BBOX1	chr11	27040725	27127809	+	ENSG00000129151.8	protein_coding	BBH|BBOX|G-BBH|gamma-BBH	11p14.2	gamma-butyrobetaine hydroxylase 1	This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. [provided by RefSeq, Jul 2008]
BBS1	chr11	66510606	66533627	+	ENSG00000174483.19	protein_coding	BBS2L2	11q13.2	Bardet-Biedl syndrome 1	Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]
BBS10	chr12	76344474	76348442	-	ENSG00000179941.6	protein_coding	C12orf58	12q21.2	Bardet-Biedl syndrome 10	This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this proteins expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]
BBS12	chr4	122732702	122744943	+	ENSG00000181004.9	protein_coding	C4orf24	4q27	Bardet-Biedl syndrome 12	The protein encoded by this gene is part of a complex that is involved in membrane trafficking. The encoded protein is a molecular chaperone that aids in protein folding upon ATP hydrolysis. This protein also plays a role in adipocyte differentiation. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
BBS2	chr16	56466836	56520283	-	ENSG00000125124.11	protein_coding	BBS|RP74	16q13	Bardet-Biedl syndrome 2	This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with seven other BBS proteins.[provided by RefSeq, Oct 2014]
BBS4	chr15	72686179	72738476	+	ENSG00000140463.13	protein_coding	-	15q24.1	Bardet-Biedl syndrome 4	Ubiquitous expression in testis (RPKM 12.7), prostate (RPKM 9.9) and 25 other tissues
BBS5	chr2	169479178	169506655	+	ENSG00000163093.11	protein_coding	-	2q31.1	Bardet-Biedl syndrome 5	Broad expression in testis (RPKM 7.2), thyroid (RPKM 4.0) and 22 other tissues
BBS7	chr4	121824440	121870497	-	ENSG00000138686.9	protein_coding	BBS2L1	4q27	Bardet-Biedl syndrome 7	This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]
BBS9	chr7	33129244	33606068	+	ENSG00000122507.20	protein_coding	B1|C18|D1|PTHB1	7p14.3	Bardet-Biedl syndrome 9	This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017]
BBX	chr3	107522936	107811324	+	ENSG00000114439.18	protein_coding	ARTC1|HBP2|HSPC339|MDS001	3q13.12	BBX high mobility group box domain containing	Broad expression in testis (RPKM 26.5), thyroid (RPKM 14.4) and 24 other tissues
BCAM	chr19	44809059	44821420	+	ENSG00000187244.10	protein_coding	AU|CD239|LU|MSK19	19q13.32	basal cell adhesion molecule (Lutheran blood group)	This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
BCAN	chr1	156641390	156659532	+	ENSG00000132692.18	protein_coding	BEHAB|CSPG7	1q23.1	brevican	This gene encodes a member of the lectican family of chondroitin sulfate proteoglycans that is specifically expressed in the central nervous system. This protein is developmentally regulated and may function in the formation of the brain extracellular matrix. This protein is highly expressed in gliomas and may promote the growth and cell motility of brain tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
BCAP29	chr7	107579977	107629170	+	ENSG00000075790.10	protein_coding	BAP29	7q22.3	B cell receptor associated protein 29	Ubiquitous expression in thyroid (RPKM 19.4), testis (RPKM 16.0) and 24 other tissues
BCAP31	chrX	153700497	153724697	-	ENSG00000185825.15	protein_coding	6C6-AG|BAP31|CDM|DDCH|DXS1357E	Xq28	B cell receptor associated protein 31	This gene encodes a member of the B-cell receptor associated protein 31 superfamily. The encoded protein is a multi-pass transmembrane protein of the endoplasmic reticulum that is involved in the anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi and in caspase 8-mediated apoptosis. Microdeletions in this gene are associated with contiguous ABCD1/DXS1375E deletion syndrome (CADDS), a neonatal disorder. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 16. [provided by RefSeq, Jan 2012]
BCAR1	chr16	75228187	75268053	-	ENSG00000050820.16	protein_coding	CAS|CAS1|CASS1|CRKAS|P130Cas	16q23.1	BCAR1 scaffold protein, Cas family member	The protein encoded by this gene is a member of the Crk-associated substrate (CAS) family of scaffold proteins, characterized by the presence of multiple protein-protein interaction domains and many serine and tyrosine phosphorylation sites. The encoded protein contains a Src-homology 3 (SH3) domain, a proline-rich domain, a substrate domain which contains 15 repeat of the YxxP consensus phosphorylation motif for Src family kinases, a serine-rich domain, and a bipartite Src-binding domain, which can bind both SH2 and SH3 domains. This adaptor protein functions in multiple cellular pathways, including in cell motility, apoptosis and cell cycle control. Dysregulation of this gene can have a wide range of effects, affecting different pathways, including cardiac development, vascular smooth muscle cells, liver and kidney function, endothelial migration, and cancer. [provided by RefSeq, Sep 2017]
BCAR3	chr1	93561786	93847150	-	ENSG00000137936.16	protein_coding	AND-34|MIG7|NSP2|SH2D3B	1p22.1	BCAR3 adaptor protein, NSP family member	Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
BCAS2	chr1	114567557	114581639	-	ENSG00000116752.5	protein_coding	DAM1|SPF27|Snt309	1p13.2	BCAS2 pre-mRNA processing factor	Ubiquitous expression in bone marrow (RPKM 27.2), brain (RPKM 25.4) and 25 other tissues
BCAS3	chr17	60677453	61392838	+	ENSG00000141376.22	protein_coding	GAOB1|MAAB|PHAF2	17q23.2	BCAS3 microtubule associated cell migration factor	Ubiquitous expression in testis (RPKM 4.9), brain (RPKM 4.0) and 25 other tissues
BCAS4	chr20	50794894	50882676	+	ENSG00000124243.17	protein_coding	CNOL	20q13.13	breast carcinoma amplified sequence 4	Broad expression in lymph node (RPKM 5.4), appendix (RPKM 2.0) and 18 other tissues
BCAT1	chr12	24810022	24949459	-	ENSG00000060982.14	protein_coding	BCATC|BCT1|ECA39|MECA39|PNAS121|PP18	12p12.1	branched chain amino acid transaminase 1	This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]
BCAT2	chr19	48795062	48811029	-	ENSG00000105552.14	protein_coding	BCAM|BCATM|BCT2|HVLI|PP18	19q13.33	branched chain amino acid transaminase 2	This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
BCCIP	chr10	125823546	125853695	+	ENSG00000107949.16	protein_coding	TOK-1|TOK1	10q26.2	BRCA2 and CDKN1A interacting protein	This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
BCDIN3D	chr12	49836039	49843129	-	ENSG00000186666.5	protein_coding	-	12q13.12	BCDIN3 domain containing RNA methyltransferase	Ubiquitous expression in prostate (RPKM 3.3), lymph node (RPKM 3.0) and 25 other tissues
BCDIN3D-AS1	chr12	49828542	49841143	+	ENSG00000258057.5	antisense	-	12q13.12	BCDIN3D antisense RNA 1	-
BCHE	chr3	165772904	165837472	-	ENSG00000114200.9	protein_coding	BCHED|CHE1|CHE2|E1	3q26.1	butyrylcholinesterase	This gene encodes a cholinesterase enzyme and member of the type-B carboxylesterase/lipase family of proteins. The encoded enzyme exhibits broad substrate specificity and is involved in the detoxification of poisons including organophosphate nerve agents and pesticides, and the metabolism of drugs including cocaine, heroin and aspirin. Humans homozygous for certain mutations in this gene exhibit prolonged apnea after administration of the muscle relaxant succinylcholine. [provided by RefSeq, Jul 2016]
BCKDHA	chr19	41397460	41425005	+	ENSG00000248098.11	protein_coding	BCKDE1A|MSU|MSUD1|OVD1A	19q13.2	branched chain keto acid dehydrogenase E1 subunit alpha	The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
BCKDHB	chr6	80106647	80346270	+	ENSG00000083123.14	protein_coding	BCKDE1B|BCKDH E1-beta|E1B	6q14.1	branched chain keto acid dehydrogenase E1 subunit beta	This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]
BCKDK	chr16	31106107	31112791	+	ENSG00000103507.13	protein_coding	BCKDKD|BDK	16p11.2	branched chain keto acid dehydrogenase kinase	The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
BCL10	chr1	85266248	85277090	-	ENSG00000142867.12	protein_coding	CARMEN|CIPER|CLAP|IMD37|c-E10|mE10	1p22.3	BCL10 immune signaling adaptor	This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
BCL11A	chr2	60451167	60553567	-	ENSG00000119866.20	protein_coding	BCL11A-L|BCL11A-S|BCL11A-XL|BCL11a-M|CTIP1|DILOS|EVI9|HBFQTL5|SMARCM1|ZNF856	2p16.1	BAF chromatin remodeling complex subunit BCL11A	This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
BCL11B	chr14	99169287	99271524	-	ENSG00000127152.17	protein_coding	ATL1|ATL1-alpha|ATL1-beta|ATL1-delta|ATL1-gamma|CTIP-2|CTIP2|IDDFSTA|IMD49|RIT1|SMARCM2|ZNF856B|hRIT1-alpha	14q32.2	BAF chromatin remodeling complex subunit BCL11B	This gene encodes a C2H2-type zinc finger protein and is closely related to BCL11A, a gene whose translocation may be associated with B-cell malignancies. Although the specific function of this gene has not been determined, the encoded protein is known to be a transcriptional repressor, and is regulated by the NURD nucleosome remodeling and histone deacetylase complex. Four alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
BCL2	chr18	63123346	63320128	-	ENSG00000171791.12	protein_coding	Bcl-2|PPP1R50	18q21.33	BCL2 apoptosis regulator	This gene encodes an integral outer mitochondrial membrane protein that blocks the apoptotic death of some cells such as lymphocytes. Constitutive expression of BCL2, such as in the case of translocation of BCL2 to Ig heavy chain locus, is thought to be the cause of follicular lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
BCL2A1	chr15	79960889	79971446	-	ENSG00000140379.7	protein_coding	ACC-1|ACC-2|ACC1|ACC2|BCL2L5|BFL1|GRS|HBPA1	15q25.1	BCL2 related protein A1	This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
BCL2L1	chr20	31664452	31723989	-	ENSG00000171552.12	protein_coding	BCL-XL/S|BCL2L|BCLX|Bcl-X|PPP1R52	20q11.21	BCL2 like 1	The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Alternative splicing results in multiple transcript variants encoding two different isoforms. The longer isoform acts as an apoptotic inhibitor and the shorter isoform acts as an apoptotic activator. [provided by RefSeq, Dec 2015]
BCL2L10	chr15	52109263	52112775	-	ENSG00000137875.4	protein_coding	BCL-B|Boo|Diva|bcl2-L-10	15q21.2	BCL2 like 10	The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains conserved BH4, BH1 and BH2 domains. This protein can interact with other members of BCL-2 protein family including BCL2, BCL2L1/BCL-X(L), and BAX. Overexpression of this gene has been shown to suppress cell apoptosis possibly through the prevention of cytochrome C release from the mitochondria, and thus activating caspase-3 activation. The mouse counterpart of this protein is found to interact with Apaf1 and forms a protein complex with Caspase 9, which suggests the involvement of this protein in APAF1 and CASPASE 9 related apoptotic pathway. [provided by RefSeq, Jul 2008]
BCL2L11	chr2	111119378	111168447	+	ENSG00000153094.22	protein_coding	BAM|BIM|BOD	2q13	BCL2 like 11	The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2013]
BCL2L12	chr19	49665142	49673916	+	ENSG00000126453.9	protein_coding	-	19q13.33	BCL2 like 12	Ubiquitous expression in lymph node (RPKM 7.1), spleen (RPKM 6.8) and 25 other tissues
BCL2L13	chr22	17628855	17730855	+	ENSG00000099968.17	protein_coding	BCL-RAMBO|Bcl2-L-13|MIL1	22q11.21	BCL2 like 13	This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
BCL2L14	chr12	12049844	12211084	+	ENSG00000121380.12	protein_coding	BCLG	12p13.2	BCL2 like 14	The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene. [provided by RefSeq, May 2009]
BCL2L15	chr1	113878168	113887547	-	ENSG00000188761.11	protein_coding	Bfk|C1orf178	1p13.2	BCL2 like 15	Biased expression in duodenum (RPKM 22.4), small intestine (RPKM 18.2) and 5 other tissues
BCL2L2	chr14	23298790	23311759	+	ENSG00000129473.9	protein_coding	BCL-W|BCL2-L-2|BCLW|PPP1R51	14q11.2	BCL2 like 2	This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gene in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the mouse gene demonstrated an essential role in adult spermatogenesis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream PABPN1 (poly(A) binding protein, nuclear 1) gene. [provided by RefSeq, Dec 2010]
BCL3	chr19	44747705	44760044	+	ENSG00000069399.14	protein_coding	BCL4|D19S37	19q13.32	BCL3 transcription coactivator	This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. [provided by RefSeq, Jul 2008]
BCL6	chr3	187721377	187745727	-	ENSG00000113916.17	protein_coding	BCL5|BCL6A|LAZ3|ZBTB27|ZNF51	3q27.3	BCL6 transcription repressor	The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal POZ domain. This protein acts as a sequence-specific repressor of transcription, and has been shown to modulate the transcription of STAT-dependent IL-4 responses of B cells. This protein can interact with a variety of POZ-containing proteins that function as transcription corepressors. This gene is found to be frequently translocated and hypermutated in diffuse large-cell lymphoma (DLCL), and may be involved in the pathogenesis of DLCL. Alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
BCL6B	chr17	7023020	7030290	+	ENSG00000161940.10	protein_coding	BAZF|ZBTB28|ZNF62	17p13.1	BCL6B transcription repressor	Broad expression in fat (RPKM 17.2), lung (RPKM 14.1) and 22 other tissues
BCL7A	chr12	122019422	122062044	+	ENSG00000110987.8	protein_coding	BCL7|SMARCJ1	12q24.31	BAF chromatin remodeling complex subunit BCL7A	This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
BCL7B	chr7	73536356	73558002	-	ENSG00000106635.7	protein_coding	SMARCJ2	7q11.23	BAF chromatin remodeling complex subunit BCL7B	This gene encodes a member of the BCL7 family including BCL7A, BCL7B and BCL7C proteins. This member is BCL7B, which contains a region that is highly similar to the N-terminal segment of BCL7A or BCL7C proteins. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. This gene is located at a chromosomal region commonly deleted in Williams syndrome. This gene is highly conserved from C. elegans to human. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2010]
BCL7C	chr16	30833626	30894960	-	ENSG00000099385.11	protein_coding	SMARCJ3	16p11.2	BAF chromatin remodeling complex subunit BCL7C	This gene is identified by the similarity of its product to the N-terminal region of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. The function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
BCL9	chr1	147541412	147626216	+	ENSG00000116128.10	protein_coding	LGS	1q21.2	BCL9 transcription coactivator	BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008]
BCL9L	chr11	118893875	118925608	-	ENSG00000186174.12	protein_coding	B9L|BCL9-2|DLNB11	11q23.3	BCL9 like	Enables beta-catenin binding activity. Involved in several processes, including negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of epithelial to mesenchymal transition; and positive regulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. Part of beta-catenin-TCF complex. [provided by Alliance of Genome Resources, Apr 2022]
BCL9P1	chr5	67636382	67638942	+	ENSG00000249238.1	processed_pseudogene	-	5q13.1	BCL9 pseudogene 1	-
BCLAF1	chr6	136256627	136289851	-	ENSG00000029363.16	protein_coding	BTF|bK211L9.1	6q23.3	BCL2 associated transcription factor 1	This gene encodes a transcriptional repressor that interacts with several members of the BCL2 family of proteins. Overexpression of this protein induces apoptosis, which can be suppressed by co-expression of BCL2 proteins. The protein localizes to dot-like structures throughout the nucleus, and redistributes to a zone near the nuclear envelope in cells undergoing apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
BCO2	chr11	112175467	112224699	+	ENSG00000197580.11	protein_coding	B-DIOX-II|BCDO2	11q23.1	beta-carotene oxygenase 2	This gene encodes an enzyme which oxidizes carotenoids such as beta-carotene during the biosynthesis of vitamin A. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
BCR	chr22	23179704	23318037	+	ENSG00000186716.20	protein_coding	ALL|BCR1|CML|D22S11|D22S662|PHL	22q11.23	BCR activator of RhoGEF and GTPase	A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020]
BCRP1	chr22	24259929	24263764	-	ENSG00000225098.1	unprocessed_pseudogene	BCR-1	22q11.23	BCR pseudogene 1	-
BCRP3	chr22	24632915	24650012	+	ENSG00000215481.9	processed_transcript	BCR3|BCRL3|BCRL6	22q11.23	BCR pseudogene 3	-
BCS1L	chr2	218658764	218663443	+	ENSG00000074582.12	protein_coding	BCS|BCS1|BJS|FLNMS|GRACILE|Hs.6719|MC3DN1|PTD|h-BCS|h-BCS1	2q35	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Several alternatively spliced transcripts encoding two different isoforms have been described. [provided by RefSeq, Jan 2016]
BDH1	chr3	197509783	197573323	-	ENSG00000161267.11	protein_coding	BDH|SDR9C1	3q29	3-hydroxybutyrate dehydrogenase 1	This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
BDH2	chr4	103079435	103099883	-	ENSG00000164039.14	protein_coding	DHRS6|EFA6R|PRO20933|SDR15C1|UCPA-OR|UNQ6308	4q24	3-hydroxybutyrate dehydrogenase 2	Broad expression in kidney (RPKM 50.7), duodenum (RPKM 25.0) and 23 other tissues
BDKRB1	chr14	96255824	96268967	+	ENSG00000100739.10	protein_coding	B1BKR|B1R|BKB1R|BKR1|BRADYB1	14q32.2	bradykinin receptor B1	Bradykinin, a 9 aa peptide, is generated in pathophysiologic conditions such as inflammation, trauma, burns, shock, and allergy. The protein encoded by this gene belongs to the G-protein coupled receptor 1 family. Two types of G-protein coupled receptors have been found which bind bradykinin and mediate responses to these pathophysiologic conditions. The protein encoded by this gene is one of these receptors and is synthesized de novo following tissue injury. Receptor binding leads to an increase in the cytosolic calcium ion concentration, ultimately resulting in chronic and acute inflammatory responses. [provided by RefSeq, Aug 2020]
BDNF	chr11	27654893	27722058	-	ENSG00000176697.18	protein_coding	ANON2|BULN2	11p14.1	brain derived neurotrophic factor	This gene encodes a member of the nerve growth factor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. Binding of this protein to its cognate receptor promotes neuronal survival in the adult brain. Expression of this gene is reduced in Alzheimers, Parkinsons, and Huntingtons disease patients. This gene may play a role in the regulation of the stress response and in the biology of mood disorders. [provided by RefSeq, Nov 2015]
BDNF-AS	chr11	27506838	27698174	+	ENSG00000245573.7	antisense	ANTI-BDNF|BDNF|BDNF-AS1|BDNFAS|BDNFOS|NCRNA00049	11p14.1	BDNF antisense RNA	Ubiquitous expression in brain (RPKM 3.5), thyroid (RPKM 1.9) and 23 other tissues
BEAN1	chr16	66427297	66493529	+	ENSG00000166546.13	protein_coding	BEAN|SCA31	16q21	brain expressed associated with NEDD4 1	The protein encoded by this gene is one of several proteins that interact with NEDD4, a member of a family of ubiquitin-protein ligases. These proteins have PY motifs in common that bind to the WW domains of NEDD4. NEDD4 is developmentally regulated, and is highly expressed in embryonic tissues. Mutations in this gene (i.e., intronic insertions of >100 copies of pentanucleotide repeats including a (TGGAA)n sequence) are associated with spinocerebellar ataxia type 31. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
BEAN1-AS1	chr16	66469796	66481230	-	ENSG00000261656.5	antisense	CTD-2258A20.5	16q21	BEAN1 antisense RNA 1	Low expression observed in reference dataset
BECN1	chr17	42810134	42833350	-	ENSG00000126581.12	protein_coding	ATG6|VPS30|beclin1	17q21.31	beclin 1	This gene encodes a protein that regulates autophagy, a catabolic process of degradation induced by starvation. The encoded protein is a component of the phosphatidylinositol-3-kinase (PI3K) complex which mediates vesicle-trafficking processes. This protein is thought to play a role in multiple cellular processes, including tumorigenesis, neurodegeneration and apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
BEGAIN	chr14	100537147	100587413	-	ENSG00000183092.16	protein_coding	-	14q32.2	brain enriched guanylate kinase associated	-
BEND3	chr6	107065182	107115269	-	ENSG00000178409.13	protein_coding	KIAA1553	6q21	BEN domain containing 3	Enables rDNA binding activity. Involved in several processes, including histone modification; negative regulation of macromolecule metabolic process; and protein homooligomerization. Located in heterochromatin; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
BEND3P3	chr10	79682997	79685436	+	ENSG00000278616.1	processed_pseudogene	-	10q22.3	BEN domain containing 3 pseudogene 3	-
BEND4	chr4	42110938	42152878	-	ENSG00000188848.15	protein_coding	CCDC4	4p13	BEN domain containing 4	Biased expression in testis (RPKM 7.9), prostate (RPKM 2.2) and 4 other tissues
BEND5	chr1	48727523	48776969	-	ENSG00000162373.12	protein_coding	C1orf165	1p33	BEN domain containing 5	Ubiquitous expression in ovary (RPKM 1.6), brain (RPKM 1.3) and 23 other tissues
BEND6	chr6	56955126	57027342	+	ENSG00000151917.17	protein_coding	C6orf65	6p12.1	BEN domain containing 6	Biased expression in brain (RPKM 5.4), gall bladder (RPKM 1.0) and 7 other tissues
BEND7	chr10	13438484	13528974	-	ENSG00000165626.16	protein_coding	C10orf30	10p13	BEN domain containing 7	Broad expression in thyroid (RPKM 4.1), small intestine (RPKM 3.0) and 22 other tissues
BEST1	chr11	61949821	61965515	+	ENSG00000167995.15	protein_coding	ARB|BEST|BMD|Best1V1Delta2|RP50|TU15B|VMD2	11q12.3	bestrophin 1	This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008]
BEST2	chr19	12751702	12758458	+	ENSG00000039987.6	protein_coding	VMD2L1	19p13.13	bestrophin 2	This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3 ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the retinal pigment epithelium and colon. [provided by RefSeq, Jul 2008]
BEST3	chr12	69643360	69699476	-	ENSG00000127325.18	protein_coding	VMD2L3	12q15	bestrophin 3	BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008]
BET1	chr7	93962762	94004382	-	ENSG00000105829.11	protein_coding	HBET1	7q21.3	Bet1 golgi vesicular membrane trafficking protein	This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
BET1L	chr11	167784	207428	-	ENSG00000177951.17	protein_coding	BET1L1|GOLIM3|GS15|HSPC197	11p15.5	Bet1 golgi vesicular membrane trafficking protein like	Ubiquitous expression in ovary (RPKM 28.0), thyroid (RPKM 22.6) and 25 other tissues
BFAR	chr16	14632815	14669236	+	ENSG00000103429.10	protein_coding	BAR|RNF47	16p13.12	bifunctional apoptosis regulator	Ubiquitous expression in placenta (RPKM 13.9), urinary bladder (RPKM 13.0) and 25 other tissues
BFSP1	chr20	17493905	17569220	-	ENSG00000125864.13	protein_coding	CP115|CP94|CTRCT33|LIFL-H	20p12.1	beaded filament structural protein 1	This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
BGLAP	chr1	156241962	156243321	+	ENSG00000242252.1	protein_coding	BGP|OC|OCN	1q22	bone gamma-carboxyglutamate protein	This gene encodes a highly abundant bone protein secreted by osteoblasts that regulates bone remodeling and energy metabolism. The encoded protein contains a Gla (gamma carboxyglutamate) domain, which functions in binding to calcium and hydroxyapatite, the mineral component of bone. Serum osteocalcin levels may be negatively correlated with metabolic syndrome. Read-through transcription exists between this gene and the neighboring upstream gene, PMF1 (polyamine-modulated factor 1), but the encoded protein only shows sequence identity with the upstream gene product. [provided by RefSeq, Jun 2015]
BHLHA15	chr7	98211427	98212979	+	ENSG00000180535.3	protein_coding	BHLHB8|MIST1	7q21.3	basic helix-loop-helix family member a15	-
BHLHE22	chr8	64580367	64583628	+	ENSG00000180828.2	protein_coding	BHLHB5|Beta3|Beta3a|CAGL85|TNRC20	8q12.3	basic helix-loop-helix family member e22	This gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. A similar protein in mouse is required for the development of the dorsal cochlear nuclei, and is thought to play a role in in the differentiation of neurons involved in sensory input. The mouse protein also functions in retinogenesis. [provided by RefSeq, Oct 2016]
BHLHE40	chr3	4979116	4985323	+	ENSG00000134107.4	protein_coding	BHLHB2|Clast5|DEC1|HLHB2|SHARP-2|SHARP2|STRA13|Stra14	3p26.1	basic helix-loop-helix family member e40	This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTLs transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. [provided by RefSeq, Feb 2014]
BHLHE40-AS1	chr3	4896809	4979961	-	ENSG00000235831.6	antisense	-	3p26.1	BHLHE40 antisense RNA 1	-
BHLHE41	chr12	26120026	26125127	-	ENSG00000123095.5	protein_coding	BHLHB3|DEC2|FNSS1|SHARP1|hDEC2	12p12.1	basic helix-loop-helix family member e41	This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTLs transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014]
BHMT	chr5	79111779	79132290	+	ENSG00000145692.14	protein_coding	BHMT1|HEL-S-61p	5q14.1	betaine--homocysteine S-methyltransferase	This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008]
BHMT2	chr5	79069717	79089466	+	ENSG00000132840.9	protein_coding	-	5q14.1	betaine--homocysteine S-methyltransferase 2	Biased expression in kidney (RPKM 175.7), liver (RPKM 113.0) and 1 other tissue
BICC1	chr10	58513140	58831437	+	ENSG00000122870.11	protein_coding	BICC|CYSRD	10q21.1	BicC family RNA binding protein 1	This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 2009]
BICD1P1	chr2	200844240	200845461	+	ENSG00000224346.1	processed_pseudogene	-	2q33.1	BICD cargo adaptor 1 pseudogene 1	-
BICD2	chr9	92711363	92764812	-	ENSG00000185963.13	protein_coding	SMALED2|SMALED2A|SMALED2B|bA526D8.1	9q22.31	BICD cargo adaptor 2	This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described. [provided by RefSeq, Jul 2008]
BICDL1	chr12	119989869	120094494	+	ENSG00000135127.11	protein_coding	BICDR-1|BICDR1|CCDC64|CCDC64A|H_267D11.1	12q24.23	BICD family like cargo adaptor 1	Biased expression in kidney (RPKM 26.8), skin (RPKM 12.5) and 9 other tissues
BICDL2	chr16	3027682	3036926	-	ENSG00000162069.14	protein_coding	BICDR-2|BICDR2|CCDC64B	16p13.3	BICD family like cargo adaptor 2	Broad expression in colon (RPKM 12.5), skin (RPKM 11.3) and 14 other tissues
BICRAL	chr6	 42746339	42868556	+	ENSG00000112624	protein-coding	GLTSCR1L|KIAA0240|SMARCK2	6p21.1	BICRA like chromatin remodeling complex associated protein	Ubiquitous expression in ovary (RPKM 8.6), thyroid (RPKM 7.9) and 25 other tissues
BID	chr22	17734138	17774770	-	ENSG00000015475.18	protein_coding	FP497	22q11.21	BH3 interacting domain death agonist	This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2, and thus regulate apoptosis. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Aug 2020]
BIK	chr22	43110748	43129712	+	ENSG00000100290.2	protein_coding	BIP1|BP4|NBK	22q13.2	BCL2 interacting killer	The protein encoded by this gene shares a critical BH3 domain with other death-promoting proteins, such as BID, BAK, BAD and BAX, that is required for its pro-apoptotic activity, and for interaction with anti-apoptotic members of the BCL2 family, and viral survival-promoting proteins. Since the activity of this protein is suppressed in the presence of survival-promoting proteins, it is suggested as a likely target for anti-apoptotic proteins. [provided by RefSeq, Sep 2011]
BIN1	chr2	127048027	127107355	-	ENSG00000136717.14	protein_coding	AMPH2|AMPHL|CNM2|SH3P9	2q14.3	bridging integrator 1	This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in several transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Mar 2016]
BIN2	chr12	51281038	51324668	-	ENSG00000110934.10	protein_coding	BRAP-1	12q13.13	bridging integrator 2	Broad expression in bone marrow (RPKM 30.2), spleen (RPKM 24.4) and 15 other tissues
BIN3	chr8	22620418	22669148	-	ENSG00000147439.12	protein_coding	-	8p21.3	bridging integrator 3	Ubiquitous expression in bone marrow (RPKM 13.5), adrenal (RPKM 7.2) and 25 other tissues
BIN3-IT1	chr8	 22640371	22642209	-	-	ncRNA	-	8p21.3	BIN3 intronic transcript 1	-
BIRC2	chr11	102347211	102378670	+	ENSG00000110330.8	protein_coding	API1|HIAP2|Hiap-2|MIHB|RNF48|c-IAP1|cIAP1	11q22.2	baculoviral IAP repeat containing 2	The protein encoded by this gene is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
BIRC6	chr2	32357028	32618899	+	ENSG00000115760.13	protein_coding	APOLLON|BRUCE	2p22.3	baculoviral IAP repeat containing 6	This gene encodes a protein with a BIR (baculoviral inhibition of apoptosis protein repeat) domain and a UBCc (ubiquitin-conjugating enzyme E2, catalytic) domain. This protein inhibits apoptosis by facilitating the degradation of apoptotic proteins by ubiquitination. [provided by RefSeq, Jul 2008]
BIRC7	chr20	63235883	63240507	+	ENSG00000101197.12	protein_coding	KIAP|LIVIN|ML-IAP|MLIAP|RNF50	20q13.33	baculoviral IAP repeat containing 7	This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Elevated levels of the encoded protein may be associated with cancer progression and play a role in chemotherapy sensitivity. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jul 2013]
BISPR	chr19	17405694	17418904	+	ENSG00000282851.1	lincRNA	lncBST2	19p13.11	BST2 interferon stimulated positive regulator	Broad expression in ovary (RPKM 23.4), lymph node (RPKM 11.3) and 17 other tissues
BIVM	chr13	102799049	102841535	+	ENSG00000134897.13	protein_coding	-	13q33.1	basic, immunoglobulin-like variable motif containing	-
BLACAT1	chr1	205434886	205437879	-	ENSG00000281406.1	lincRNA	LINC00912|linc-UBC1|onco-lncRNA-30	1q32.1	bladder cancer associated transcript 1	Broad expression in testis (RPKM 1.3), thyroid (RPKM 1.0) and 15 other tissues
BLCAP	chr20	37492472	37527931	-	ENSG00000166619.12	protein_coding	BC10	20q11.23	BLCAP apoptosis inducing factor	This gene encodes a protein that reduces cell growth by stimulating apoptosis. Alternative splicing and the use of alternative promoters result in multiple transcript variants encoding the same protein. This gene is imprinted in brain where different transcript variants are expressed from each parental allele. Transcript variants initiating from the upstream promoter are expressed preferentially from the maternal allele, while transcript variants initiating downstream of the interspersed NNAT gene (GeneID:4826) are expressed from the paternal allele. Transcripts at this locus may also undergo A to I editing, resulting in amino acid changes at three positions in the N-terminus of the protein. [provided by RefSeq, Nov 2015]
BLK	chr8	11494001	11564604	+	ENSG00000136573.12	protein_coding	MODY11	8p23.1	BLK proto-oncogene, Src family tyrosine kinase	This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]
BLM	chr15	90717327	90816165	+	ENSG00000197299.10	protein_coding	BS|MGRISCE1|RECQ2|RECQL2|RECQL3	15q26.1	BLM RecQ like helicase	The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase unwinds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families. [provided by RefSeq, May 2020]
BLMH	chr17	30248195	30292056	-	ENSG00000108578.14	protein_coding	BH|BMH	17q11.2	bleomycin hydrolase	Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide bleomycin (BLM), an essential component of combination chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. [provided by RefSeq, Jul 2008]
BLOC1S1	chr12	55716037	55720087	+	ENSG00000135441.7	protein_coding	BLOS1|BORCS1|GCN5L1|MICoA|RT14	12q13.2	biogenesis of lysosomal organelles complex 1 subunit 1	BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and DellAngelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008]
BLOC1S2	chr10	100273280	100286712	-	ENSG00000196072.11	protein_coding	BLOS2|BORCS2|CEAP|CEAP11	10q24.31	biogenesis of lysosomal organelles complex 1 subunit 2	This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
BLOC1S3	chr19	45178745	45181801	+	ENSG00000189114.6	protein_coding	BLOS3|HPS8|RP	19q13.32	biogenesis of lysosomal organelles complex 1 subunit 3	This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]
BLOC1S6	chr15	45587123	45615999	+	ENSG00000104164.10	protein_coding	BLOS6|HPS9|PA|PALLID|PLDN	15q21.1	biogenesis of lysosomal organelles complex 1 subunit 6	The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]
BLVRA	chr7	43758680	43807342	+	ENSG00000106605.10	protein_coding	BLVR|BVR|BVRA	7p13	biliverdin reductase A	The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]
BLVRB	chr19	40447789	40465840	-	ENSG00000090013.9	protein_coding	BVRB|FLR|HEL-S-10|SDR43U1	19q13.2	biliverdin reductase B	The final step in heme metabolism in mammals is catalyzed by the cytosolic biliverdin reductase enzymes A and B (EC 1.3.1.24).[supplied by OMIM, Jul 2009]
BLZF1	chr1	169367970	169396540	+	ENSG00000117475.13	protein_coding	GOLGIN-45|JEM-1|JEM-1s|JEM1	1q24.2	basic leucine zipper nuclear factor 1	Ubiquitous expression in testis (RPKM 12.9), esophagus (RPKM 10.8) and 25 other tissues
BLZF2P	chr14	68867857	68869951	-	ENSG00000258565.1	unprocessed_pseudogene	-	14q24.1	basic leucine zipper nuclear factor 2, pseudogene	-
BMERB1	chr16	 15434588	15588259	+	ENSG00000166780	protein-coding	C16orf45|MINP	16p13.11	bMERB domain containing 1	Broad expression in brain (RPKM 40.3), endometrium (RPKM 12.8) and 21 other tissues
BMF	chr15	40087890	40108892	-	ENSG00000104081.13	protein_coding	-	15q15.1	Bcl2 modifying factor	Ubiquitous expression in endometrium (RPKM 8.6), bone marrow (RPKM 8.4) and 25 other tissues
BMP1	chr8	22164736	22212326	+	ENSG00000168487.17	protein_coding	OI13|PCOLC|PCP|PCP2|TLD	8p21.3	bone morphogenetic protein 1	This gene encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region. [provided by RefSeq, Aug 2008]
BMP2	chr20	6767664	6780280	+	ENSG00000125845.6	protein_coding	BDA2|BMP2A|SSFSC|SSFSC1	20p12.3	bone morphogenetic protein 2	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Duplication of a regulatory region downstream of this gene causes a form of brachydactyly characterized by a malformed index finger and second toe in human patients. [provided by RefSeq, Jul 2016]
BMP2K	chr4	78776342	78916372	+	ENSG00000138756.17	protein_coding	BIKE|HRIHFB2017	4q21.21	BMP2 inducible kinase	This gene is the human homolog of mouse BMP-2-inducible kinase. Bone morphogenic proteins (BMPs) play a key role in skeletal development and patterning. Expression of the mouse gene is increased during BMP-2 induced differentiation and the gene product is a putative serine/threonine protein kinase containing a nuclear localization signal. Therefore, the protein encoded by this human homolog is thought to be a protein kinase with a putative regulatory role in attenuating the program of osteoblast differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
BMP3	chr4	81030965	81057531	+	ENSG00000152785.6	protein_coding	BMP-3A	4q21.21	bone morphogenetic protein 3	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein suppresses osteoblast differentiation, and negatively regulates bone density, by modulating TGF-beta receptor availability to other ligands. [provided by RefSeq, Jul 2016]
BMP4	chr14	53949736	53958761	-	ENSG00000125378.15	protein_coding	BMP2B|BMP2B1|MCOPS6|OFC11|ZYME	14q22.2	bone morphogenetic protein 4	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates heart development and adipogenesis. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. The encoded protein may also be involved in the pathology of multiple cardiovascular diseases and human cancers. [provided by RefSeq, Jul 2016]
BMP6	chr6	7726797	7881422	+	ENSG00000153162.8	protein_coding	VGR|VGR1	6p24.3	bone morphogenetic protein 6	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates a wide range of biological processes including iron homeostasis, fat and bone development, and ovulation. Differential expression of this gene may be associated with progression of breast and prostate cancer. Mutations in this gene may be associated with iron overload in human patients. [provided by RefSeq, Jul 2016]
BMP8A	chr1	39491646	39525935	+	ENSG00000183682.7	protein_coding	OP-2	1p34.3	bone morphogenetic protein 8a	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein may play a role in development of the reproductive system. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 1. [provided by RefSeq, Jul 2016]
BMP8B	chr1	39757182	39788861	-	ENSG00000116985.11	protein_coding	BMP8|OP2	1p34.2	bone morphogenetic protein 8b	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The encoded protein stimulates thermogenesis in brown adipose tissue. Expression of this gene may be downregulated in pancreatic cancer. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 1. [provided by RefSeq, Jul 2016]
BMPER	chr7	33904911	34155872	+	ENSG00000164619.8	protein_coding	CRIM3|CV-2|CV2	7p14.3	BMP binding endothelial regulator	This gene encodes a secreted protein that interacts with, and inhibits bone morphogenetic protein (BMP) function. It has been shown to inhibit BMP2- and BMP4-dependent osteoblast differentiation and BMP-dependent differentiation of the chondrogenic cells. Mutations in this gene are associated with a lethal skeletal disorder, diaphanospondylodysostosis. [provided by RefSeq, Dec 2011]
BMPR1A	chr10	86756601	86932838	+	ENSG00000107779.13	protein_coding	10q23del|ACVRLK3|ALK3|CD292|SKR5	10q23.2	bone morphogenetic protein receptor type 1A	The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008]
BMPR1B	chr4	94757968	95158448	+	ENSG00000138696.10	protein_coding	ALK-6|ALK6|AMDD|BDA1D|BDA2|CDw293	4q22.3	bone morphogenetic protein receptor type 1B	This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
BMPR2	chr2	202376936	202567751	+	ENSG00000204217.13	protein_coding	BMPR-II|BMPR3|BMR2|BRK-3|POVD1|PPH1|T-ALK	2q33.1-q33.2	bone morphogenetic protein receptor type 2	This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of two different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Mutations in this gene have been associated with primary pulmonary hypertension, both familial and fenfluramine-associated, and with pulmonary venoocclusive disease. [provided by RefSeq, May 2020]
BMS1	chr10	42782801	42834937	+	ENSG00000165733.7	protein_coding	ACC|BMS1L	10q11.21	BMS1 ribosome biogenesis factor	This gene likely encodes a ribosome assembly protein. A similar protein in yeast functions in 35S-rRNA processing, which includes a series of cleavage steps critical for formation of 40S ribosomes. Related pseudogenes exist on chromosomes 2, 9, 10, 15, 16, and 22.[provided by RefSeq, Mar 2009]
BMS1P1	chr10	46786674	46811989	+	ENSG00000204177.10	transcribed_unprocessed_pseudogene	BMS1LP1|BMS1LP5|BMS1P5	10q11.22	BMS1 pseudogene 1	Ubiquitous expression in duodenum (RPKM 4.6), small intestine (RPKM 3.8) and 25 other tissues
BMS1P3	chr10	86992253	87000435	+	ENSG00000240089.2	transcribed_unprocessed_pseudogene	BMS1LP3	10q23.2	BMS1 pseudogene 3	-
BNC1	chr15	83255903	83284714	-	ENSG00000169594.13	protein_coding	BNC|BSN1|HsT19447|POF16	15q25.2	basonuclin 1	This gene encodes a zinc finger protein present in the basal cell layer of the epidermis and in hair follicles. It is also found in abundance in the germ cells of testis and ovary. This protein is thought to play a regulatory role in keratinocyte proliferation and it may also be a regulator for rRNA transcription. Disruption of this gene has been implicated in premature ovarian failure as well as testicular premature aging. [provided by RefSeq, Sep 2020]
BNC2	chr9	16409503	16870843	-	ENSG00000173068.17	protein_coding	BSN2|LUTO	9p22.3-p22.2	basonuclin 2	This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. This gene is also associated with susceptibility to adolescent idiopathic scoliosis. [provided by RefSeq, Jul 2016]
BNIP1	chr5	173144442	173164387	+	ENSG00000113734.17	protein_coding	NIP1|SEC20|TRG-8	5q35.1	BCL2 interacting protein 1	This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. In addition, this protein is involved in vesicle transport into the endoplasmic reticulum. Alternative splicing of this gene results in four protein products with identical N- and C-termini. [provided by RefSeq, Mar 2011]
BNIP2	chr15	59659146	59689534	-	ENSG00000140299.11	protein_coding	BNIP-2|NIP2	15q22.2	BCL2 interacting protein 2	This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
BNIP3	chr10	131966455	131982013	-	ENSG00000176171.11	protein_coding	NIP3	10q26.3	BCL2 interacting protein 3	This gene is encodes a mitochondrial protein that contains a BH3 domain and acts as a pro-apoptotic factor. The encoded protein interacts with anti-apoptotic proteins, including the E1B 19 kDa protein and Bcl2. This gene is silenced in tumors by DNA methylation. [provided by RefSeq, Dec 2014]
BNIP3L	chr8	26382898	26505636	+	ENSG00000104765.15	protein_coding	BNIP3a|NIX	8p21.2	BCL2 interacting protein 3 like	This gene encodes a protein that belongs to the pro-apoptotic subfamily within the Bcl-2 family of proteins. The encoded protein binds to Bcl-2 and possesses the BH3 domain. The protein directly targets mitochondria and causes apoptotic changes, including loss of membrane potential and the release of cytochrome c. [provided by RefSeq, Feb 2015]
BNIP5	chr6	 36315761	36336888	-	ENSG00000189325	protein-coding	C6orf222	6p21.31	BCL2 interacting protein 5	Biased expression in small intestine (RPKM 9.9), duodenum (RPKM 9.6) and 3 other tissues
BNIPL	chr1	151036570	151047600	+	ENSG00000163141.18	protein_coding	BNIP-S|BNIP-Salpha|BNIP-Sbeta|BNIPL-1|BNIPL-2|BNIPL1|BNIPL2|BNIPS|PP753	1q21.3	BCL2 interacting protein like	The protein encoded by this gene interacts with several other proteins, such as BCL2, ARHGAP1, MIF and GFER. It may function as a bridge molecule between BCL2 and ARHGAP1/CDC42 in promoting cell death. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
BOC	chr3	113211003	113287459	+	ENSG00000144857.14	protein_coding	Boi|CDON2	3q13.2	BOC cell adhesion associated, oncogene regulated	The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
BOD1	chr5	173607514	173616660	-	ENSG00000145919.10	protein_coding	FAM44B	5q35.2	biorientation of chromosomes in cell division 1	Ubiquitous expression in thyroid (RPKM 15.5), ovary (RPKM 14.9) and 25 other tissues
BOD1L1	chr4	13568738	13627723	-	ENSG00000038219.12	protein_coding	BOD1L|FAM44A	4p15.33	biorientation of chromosomes in cell division 1 like 1	Ubiquitous expression in bone marrow (RPKM 8.2), testis (RPKM 7.4) and 25 other tissues
BOK	chr2	241558721	241574138	+	ENSG00000176720.4	protein_coding	BCL2L9|BOKL	2q37.3	BCL2 family apoptosis regulator BOK	The protein encoded by this gene belongs to the BCL2 family, members of which form homo- or heterodimers, and act as anti- or proapoptotic regulators that are involved in a wide variety of cellular processes. Studies in rat show that this protein has restricted expression in reproductive tissues, interacts strongly with some antiapoptotic BCL2 proteins, not at all with proapoptotic BCL2 proteins, and induces apoptosis in transfected cells. Thus, this protein represents a proapoptotic member of the BCL2 family. [provided by RefSeq, Sep 2011]
BOK-AS1	chr2	241544403	241558977	-	ENSG00000234235.1	antisense	BOK-AS|BOKAS|NAToB|NCRNA00151	2q37.3	BOK antisense RNA 1	-
BOLA1	chr1	149887890	149900798	+	ENSG00000178096.8	protein_coding	CGI-143	1q21.2	bolA family member 1	Ubiquitous expression in kidney (RPKM 5.6), fat (RPKM 5.6) and 25 other tissues
BOLA2	chr16	29443056	29454964	-	ENSG00000183336.8	protein_coding	BOLA2A|BOLA2B|My016	16p11.2	bolA family member 2	This gene is located within a region of a segmental duplication on chromosome 16 and is identical to BOLA2B (bolA family member 2B). The product of this gene belongs to a family of proteins that are widely conserved and may be involved in iron maturation. Related pseudogenes are found multiple different chromosomes. Alternative splicing results in multiple transcript variants. Transcripts initiating at this locus may extend into downstream SMG1 pseudogene 6 (SMG1P6) and encode fusion proteins with a C-terminus related to SMG1 phosphatidylinositol 3-kinase-related kinase. A readthrough locus is represented with GeneID:107282092. [provided by RefSeq, Feb 2016]
BOLA2-SMG1P6	chr16	 29442905	29454964	-	-	protein-coding	-	16p11.2	BOLA2-SMG1P6 readthrough	Ubiquitous expression in bone marrow (RPKM 25.1), duodenum (RPKM 18.0) and 25 other tissues
BOLA2B	chr16	30192934	30194306	-	ENSG00000169627.7	protein_coding	BOLA2	16p11.2	bolA family member 2B	This gene is located within a region of a segmental duplication on chromosome 16 and is identical to BOLA2 (bolA family member 2). The product of this gene belongs to a family of proteins that are widely conserved and may be involved in iron maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
BOLA2P2	chr3	47499841	47500407	+	ENSG00000271161.1	transcribed_processed_pseudogene	-	3p21.31	bolA family member 2 pseudogene 2	-
BOLA3	chr2	74135398	74147994	-	ENSG00000163170.11	protein_coding	MMDS2	2p13.1	bolA family member 3	This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011]
BOLL	chr2	197726879	197786762	-	ENSG00000152430.17	protein_coding	BOULE	2q33.1	boule homolog, RNA binding protein	This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
BOP1	chr8	144262102	144291370	-	ENSG00000261236.7	protein_coding	-	8q24.3	BOP1 ribosomal biogenesis factor	-
BORA	chr13	72727749	72756198	+	ENSG00000136122.15	protein_coding	C13orf34	13q21.33	BORA aurora kinase A activator	BORA is an activator of the protein kinase Aurora A (AURKA; MIM 603072), which is required for centrosome maturation, spindle assembly, and asymmetric protein localization during mitosis (Hutterer et al., 2006 [PubMed 16890155]).[supplied by OMIM, Mar 2008]
BORCS5	chr12	12357079	12469694	+	ENSG00000165714.10	protein_coding	LOH12CR1|LOH1CR12	12p13.2	BLOC-1 related complex subunit 5	Involved in lysosome localization and organelle transport along microtubule. Located in cytoplasmic side of lysosomal membrane and plasma membrane. Is intrinsic component of membrane. Part of BORC complex. Colocalizes with plus-end kinesin complex. [provided by Alliance of Genome Resources, Apr 2022]
BORCS6	chr17	8188333	8190907	-	ENSG00000196544.7	protein_coding	C17orf59|PRO2472	17p13.1	BLOC-1 related complex subunit 6	-
BORCS7	chr10	102854223	102864961	+	ENSG00000166275.15	protein_coding	C10orf32	10q24.32	BLOC-1 related complex subunit 7	Ubiquitous expression in thyroid (RPKM 32.6), adrenal (RPKM 31.2) and 25 other tissues
BORCS7-ASMT	chr10	102854272	102901899	+	ENSG00000270316.1	protein_coding	C10orf32-AS3MT|C10orf32-ASMT	10q24.32	BORCS7-ASMT readthrough (NMD candidate)	Biased expression in adrenal (RPKM 82.6), liver (RPKM 12.4) and 11 other tissues
BORCS8	chr19	19176903	19192591	-	ENSG00000254901.7	protein_coding	MEF2BNB	19p13.11	BLOC-1 related complex subunit 8	Ubiquitous expression in fat (RPKM 4.9), kidney (RPKM 4.7) and 25 other tissues
BPESC1	chr3	139104185	139125171	+	ENSG00000232416.3	lincRNA	NCRNA00187	3q23	blepharophimosis, epicanthus inversus and ptosis candidate 1	Low expression observed in reference dataset
BPGM	chr7	134646808	134679813	+	ENSG00000172331.11	protein_coding	DPGM|ECYT8	7q33	bisphosphoglycerate mutase	2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]
BPHL	chr6	3118374	3153578	+	ENSG00000137274.12	protein_coding	BPH-RP|MCNAA|VACVASE	6p25.2	biphenyl hydrolase like	This gene encodes a member of the serine protease family of hydrolytic enzymes which contain a serine in their active site. The encoded protein may play a role in activation of the antiviral prodrug valacyclovir. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009]
BPI	chr20	38260149	38337505	+	ENSG00000101425.12	protein_coding	BPIFD1|rBPI	20q11.23	bactericidal permeability increasing protein	This gene encodes a lipopolysaccharide binding protein. It is associated with human neutrophil granules and has antimicrobial activity against gram-negative organisms. [provided by RefSeq, Nov 2014]
BPIFA1	chr20	33235995	33243311	+	ENSG00000198183.11	protein_coding	LUNX|NASG|PLUNC|SPLUNC1|SPURT|bA49G10.5	20q11.21	BPI fold containing family A member 1	This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways and nasopharyngeal regions. The encoded antimicrobial protein displays antibacterial activity against Gram-negative bacteria. It is thought to be involved in inflammatory responses to irritants in the upper airways and may also serve as a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. Multiple transcript variants resulting from alternative splicing in the 3 UTR have been detected, but the full-length nature of only three are known. [provided by RefSeq, Aug 2014]
BPIFB2	chr20	33007600	33023709	+	ENSG00000078898.6	protein_coding	BPIL1|C20orf184|LPLUNC2|RYSR|dJ726C3.2	20q11.21	BPI fold containing family B member 2	This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a cluster on the long arm of chromosome 20. [provided by RefSeq, Jul 2008]
BPIFB3	chr20	33055424	33073628	+	ENSG00000186190.7	protein_coding	C20orf185|LPLUNC3|RYA3	20q11.21	BPI fold containing family B member 3	Low expression observed in reference dataset
BPIFB4	chr20	33079644	33111751	+	ENSG00000186191.7	protein_coding	C20orf186|LPLUNC4|RY2G5|dJ726C3.5	20q11.21	BPI fold containing family B member 4	Low expression observed in reference dataset
BPIFB6	chr20	33031648	33044047	+	ENSG00000167104.11	protein_coding	BPIL3|LPLUNC6	20q11.21	BPI fold containing family B member 6	Low expression observed in reference dataset
BPIFB9P	chr20	33347720	33354444	+	ENSG00000125997.5	transcribed_unprocessed_pseudogene	C20orf115|dJ1187J4.2|dJ1187J4.3	20q11.21	BPI fold containing family B member 9, pseudogene	-
BPNT1	chr1	220057482	220090462	-	ENSG00000162813.17	protein_coding	HEL20|PIP	1q41	3'(2'), 5'-bisphosphate nucleotidase 1	BPNT1, also called bisphosphate 3-prime-nucleotidase, or BPntase, is a member of a magnesium-dependent phosphomonoesterase family. Lithium, a major drug used to treat manic depression, acts as an uncompetitive inhibitor of BPntase. The predicted human protein is 92% identical to mouse BPntase. BPntases physiologic role in nucleotide metabolism may be regulated by inositol signaling pathways. The inhibition of human BPntase may account for lithium-induced nephrotoxicity. [provided by RefSeq, Jul 2008]
BPNT2	chr8	 56957931	56993867	-	ENSG00000104331	protein-coding	GPAPP|IMP 3|IMP-3|IMPA3|IMPAD1	8q12.1	3'(2'), 5'-bisphosphate nucleotidase 2	-
BPTF	chr17	67825524	67984378	+	ENSG00000171634.16	protein_coding	FAC1|FALZ|NEDDFL|NURF301	17q24.2	bromodomain PHD finger transcription factor	This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimers disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008]
BPTFP1	chr17	64761912	64762710	-	ENSG00000263647.1	unprocessed_pseudogene	-	17q24.1	bromodomain PHD finger transcription factor pseudogene 1	-
BRAF	chr7	140719327	140924764	-	ENSG00000157764.12	protein_coding	B-RAF1|B-raf|BRAF1|NS7|RAFB1	7q34	B-Raf proto-oncogene, serine/threonine kinase	This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]
BRAP	chr12	111642146	111685986	-	ENSG00000089234.15	protein_coding	BRAP2|IMP|RNF52	12q24.12	BRCA1 associated protein	The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq, Jul 2008]
BRAT1	chr7	2537877	2555727	-	ENSG00000106009.15	protein_coding	BAAT1|C7orf27|NEDCAS|RMFSL	7p22.3	BRCA1 associated ATM activator 1	The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer 1) protein and and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signalling pathways that are required for cellular responses to DNA damage such as double-strand breaks that are induced by ionizing radiation and complexes with BRCA1 in the multi-protein complex BASC (BRAC1-associated genome surveillance complex). The protein encoded by this gene is thought to play a role in the DNA damage pathway regulated by BRCA1 and ATM. [provided by RefSeq, Mar 2012]
BRCA1	chr17	43044295	43170245	-	ENSG00000012048.20	protein_coding	BRCAI|BRCC1|BROVCA1|FANCS|IRIS|PNCA4|PPP1R53|PSCP|RNF53	17q21.31	BRCA1 DNA repair associated	This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2020]
BRCA2	chr13	32315474	32400266	+	ENSG00000139618.14	protein_coding	BRCC2|BROVCA2|FACD|FAD|FAD1|FANCD|FANCD1|GLM3|PNCA2|XRCC11	13q13.1	BRCA2 DNA repair associated	Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The largest exon in both genes is exon 11, which harbors the most important and frequent mutations in breast cancer patients. The BRCA2 gene was found on chromosome 13q12.3 in human. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, May 2020]
BRD2	chr6	32968660	32981505	+	ENSG00000204256.12	protein_coding	BRD2-IT1|D6S113E|FSH|FSRG1|NAT|O27.1.1|RING3|RNF3	6p21.32	bromodomain containing 2	This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence comparison suggests that the protein is not involved in the immune response. This gene has been implicated in juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple alternatively spliced variants have been described for this gene. [provided by RefSeq, Dec 2010]
BRD3	chr9	134030305	134068535	-	ENSG00000169925.16	protein_coding	ORFX|RING3L	9q34.2	bromodomain containing 3	This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. [provided by RefSeq, Jul 2008]
BRD3OS	chr9	 134025481	134031587	+	ENSG00000235106	protein-coding	LINC00094|LP2477|NCRNA00094	9q34.2	BRD3 opposite strand	Ubiquitous expression in brain (RPKM 8.3), thyroid (RPKM 6.5) and 25 other tissues
BRD4	chr19	15235519	15332545	-	ENSG00000141867.17	protein_coding	CAP|HUNK1|HUNKI|MCAP	19p13.12	bromodomain containing 4	The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence motif which may be involved in chromatin targeting. This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines an upper respiratory tract carcinoma in young people. Two alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
BRD7	chr16	50313487	50368934	-	ENSG00000166164.15	protein_coding	BP75|CELTIX1|NAG4|SMARCI1	16q12.1	bromodomain containing 7	This gene encodes a protein which is a member of the bromodomain-containing protein family. The product of this gene has been identified as a component of one form of the SWI/SNF chromatin remodeling complex, and as a protein which interacts with p53 and is required for p53-dependent oncogene-induced senescence which prevents tumor growth. Pseudogenes have been described on chromosomes 2, 3, 6, 13 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
BRD7P3	chr6	 118501373	118503846	+	-	pseudogene	BP75	6q22.31	bromodomain containing 7 pseudogene 3	-
BRD7P5	chr13	94757451	94759272	-	ENSG00000235768.1	processed_pseudogene	-	13q32.1	bromodomain containing 7 pseudogene 5	-
BRD8	chr5	138139766	138178986	-	ENSG00000112983.17	protein_coding	SMAP|SMAP2|p120	5q31.2	bromodomain containing 8	The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Multiple alternatively spliced transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2014]
BRD9	chr5	850291	892824	-	ENSG00000028310.17	protein_coding	LAVS3040|PRO9856|SMARCI2	5p15.33	bromodomain containing 9	Ubiquitous expression in testis (RPKM 6.5), lymph node (RPKM 4.8) and 25 other tissues
BRF1	chr14	105209286	105315589	-	ENSG00000185024.16	protein_coding	BRF|BRF-1|CFDS|GTF3B|HEL-S-76p|TAF3B2|TAF3C|TAFIII90|TF3B90|TFIIIB90|hBRF	14q32.33	BRF1 RNA polymerase III transcription initiation factor subunit	This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011]
BRF2	chr8	37843268	37849904	-	ENSG00000104221.12	protein_coding	BRFU|TFIIIB50	8p11.23	BRF2 RNA polymerase III transcription initiation factor subunit	This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. [provided by RefSeq, Jul 2008]
BRI3	chr7	98252379	98310441	+	ENSG00000164713.9	protein_coding	I3	7q21.3	brain protein I3	Ubiquitous expression in lung (RPKM 12.8), stomach (RPKM 11.3) and 25 other tissues
BRI3BP	chr12	124993700	125031231	+	ENSG00000184992.10	protein_coding	BNAS1|HCCR-1|HCCR-2|HCCRBP-1|HCCRBP-3|KG19	12q24.31	BRI3 binding protein	Broad expression in colon (RPKM 5.3), duodenum (RPKM 5.1) and 25 other tissues
BRICD5	chr16	2209253	2211950	-	ENSG00000182685.7	protein_coding	C16orf79	16p13.3	BRICHOS domain containing 5	Ubiquitous expression in testis (RPKM 5.8), brain (RPKM 5.2) and 25 other tissues
BRINP1	chr9	119153458	119369467	-	ENSG00000078725.12	protein_coding	DBC1|DBCCR1|FAM5A	9q33.1	BMP/retinoic acid inducible neural specific 1	This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers.  It contains a 5 CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers. [provided by RefSeq, Jul 2008]
BRINP2	chr1	177171497	177282422	+	ENSG00000198797.6	protein_coding	DBCCR1L2|FAM5B	1q25.2	BMP/retinoic acid inducible neural specific 2	Biased expression in brain (RPKM 11.7), adrenal (RPKM 4.6) and 1 other tissue
BRINP3	chr1	190097662	190478404	-	ENSG00000162670.10	protein_coding	DBCCR1L|DBCCR1L1|FAM5C	1q31.1	BMP/retinoic acid inducible neural specific 3	This gene is overexpressed in pituitary tumors but is underexpressed in tongue squamous cell carcinomas, ulcerative colitis, and peri-implantitis. Polymorphisms that increase expression of this gene have been shown to increase vascular inflammation, and an association of this gene with myocardial infarction has been demonstrated. Finally, hypermethylation of this gene may find usefulness as a biomarker for gastric cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
BRINP3-DT	chr1	 190478260	190481394	+	-	ncRNA	LINC01351	1q31.1	BRINP3 divergent transcript	-
BRIP1	chr17	61681266	61863521	-	ENSG00000136492.8	protein_coding	BACH1|FANCJ|OF	17q23.2	BRCA1 interacting helicase 1	The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]
BRK1	chr3	10115592	10127190	+	ENSG00000254999.3	protein_coding	C3orf10|HSPC300|MDS027|hHBrk1	3p25.3	BRICK1 subunit of SCAR/WAVE actin nucleating complex	Ubiquitous expression in fat (RPKM 95.9), kidney (RPKM 81.0) and 25 other tissues
BRME1	chr19	 13882348	13906117	-	ENSG00000132016	protein-coding	C19orf57|MEIOK21	19p13.12	break repair meiotic recombinase recruitment factor 1	-
BRMS1	chr11	66337333	66345125	-	ENSG00000174744.13	protein_coding	-	11q13.2	BRMS1 transcriptional repressor and anoikis regulator	Ubiquitous expression in bone marrow (RPKM 18.9), testis (RPKM 16.4) and 25 other tissues
BRMS1L	chr14	35826318	35932325	+	ENSG00000100916.13	protein_coding	BRMS1	14q13.2	BRMS1 like transcriptional repressor	The protein encoded by this gene shows sequence similarity to the human breast carcinoma metastasis suppressor (BRMS1) protein and the mammalian Sds3 (suppressor of defective silencing 3) proteins. This protein is a component of the mSin3a family of histone deacetylase complexes (HDAC). [provided by RefSeq, Jul 2008]
BROX	chr1	222712553	222735196	+	ENSG00000162819.11	protein_coding	C1orf58	1q41	BRO1 domain and CAAX motif containing	Ubiquitous expression in colon (RPKM 10.5), brain (RPKM 10.3) and 25 other tissues
BRPF1	chr3	9731729	9748018	+	ENSG00000156983.15	protein_coding	BR140|IDDDFP	3p25.3	bromodomain and PHD finger containing 1	This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF histone acetyltransferase complexes which function as a transcriptional regulators. This protein binds to the catalytic MYST domains of the MOZ and MORF proteins and may play a role in stimulating acetyltransferase and transcriptional activity of the complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
BRPF3	chr6	36196744	36232790	+	ENSG00000096070.19	protein_coding	-	6p21.31	bromodomain and PHD finger containing 3	-
BRSK1	chr19	55282072	55312533	+	ENSG00000160469.16	protein_coding	hSAD1	19q13.42	BR serine/threonine kinase 1	Biased expression in brain (RPKM 29.2), adrenal (RPKM 3.5) and 4 other tissues
BRSK2	chr11	1389899	1462689	+	ENSG00000174672.15	protein_coding	C11orf7|PEN11B|SAD1|SADA|STK29	11p15.5	BR serine/threonine kinase 2	Biased expression in brain (RPKM 8.8), pancreas (RPKM 3.6) and 2 other tissues
BRWD1	chr21	39184176	39321559	-	ENSG00000185658.13	protein_coding	C21orf107|DCAF19|N143|WDR9|WRD9	21q22.2	bromodomain and WD repeat domain containing 1	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) residues which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 2 bromodomains and multiple WD repeats. This gene is located within the Down syndrome region-2 on chromosome 21. Alternative splicing of this gene generates multiple transcript variants encoding distinct isoforms. In mouse, this gene encodes a nuclear protein that has a polyglutamine-containing region that functions as a transcriptional activation domain which may regulate chromatin remodelling and associates with a component of the SWI/SNF chromatin remodelling complex.[provided by RefSeq, Jun 2011]
BRWD1-AS1	chr21	39315707	39323218	+	ENSG00000238141.2	antisense	-	21q22.2	BRWD1 antisense RNA 1	-
BRWD1-AS2	chr21	39313935	39314962	+	ENSG00000255568.3	antisense	BRWD1-IT2|C21orf87|NCRNA00257	21q22.2	BRWD1 antisense RNA 2	-
BSCL2	chr11	62690275	62709845	-	ENSG00000168000.14	protein_coding	GNG3LG|HMN5|HMN5C|PELD|SPG17	11q12.3	BSCL2 lipid droplet biogenesis associated, seipin	This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]
BSDC1	chr1	32365103	32394731	-	ENSG00000160058.18	protein_coding	-	1p35.1	BSD domain containing 1	-
BSG	chr19	571277	583493	+	ENSG00000172270.18	protein_coding	5F7|CD147|EMMPRIN|EMPRIN|HAb18G|OK|SLC7A11|TCSF	19p13.3	basigin (Ok blood group)	The protein encoded by this gene, basigin, is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. Basigin is also a member of the immunoglobulin superfamily, ubiquitously expressed in various tissues. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2020]
BSN	chr3	49554489	49671545	+	ENSG00000164061.4	protein_coding	ZNF231	3p21.31	bassoon presynaptic cytomatrix protein	Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. [provided by RefSeq, Jul 2008]
BSN-DT	chr3	 49549306	49554366	-	ENSG00000226913	ncRNA	BSN-AS2	3p21.31	BSN divergent transcript	Biased expression in testis (RPKM 1.4) and brain (RPKM 0.2)
BSND	chr1	54998933	55010883	+	ENSG00000162399.6	protein_coding	BART|DFNB73	1p32.3	barttin CLCNK type accessory subunit beta	This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008]
BSPRY	chr9	113349541	113371233	+	ENSG00000119411.10	protein_coding	-	9q32	B-box and SPRY domain containing	-
BST1	chr4	15702950	15738313	+	ENSG00000109743.10	protein_coding	CD157	4p15.32	bone marrow stromal cell antigen 1	Bone marrow stromal cell antigen-1 is a stromal cell line-derived glycosylphosphatidylinositol-anchored molecule that facilitates pre-B-cell growth. The deduced amino acid sequence exhibits 33% similarity with CD38. BST1 expression is enhanced in bone marrow stromal cell lines derived from patients with rheumatoid arthritis. The polyclonal B-cell abnormalities in rheumatoid arthritis may be, at least in part, attributed to BST1 overexpression in the stromal cell population. [provided by RefSeq, Jul 2008]
BST2	chr19	17402939	17405648	-	ENSG00000130303.12	protein_coding	CD317|HM1.24|TETHERIN	19p13.11	bone marrow stromal cell antigen 2	Bone marrow stromal cells are involved in the growth and development of B-cells. The specific function of the protein encoded by the bone marrow stromal cell antigen 2 is undetermined; however, this protein may play a role in pre-B-cell growth and in rheumatoid arthritis. [provided by RefSeq, Jul 2008]
BSX	chr11	122977570	122981720	-	ENSG00000188909.4	protein_coding	BSX1	11q24.1	brain specific homeobox	Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including eating behavior; mammary gland involution; and positive regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022]
BTAF1	chr10	91923769	92030325	+	ENSG00000095564.13	protein_coding	MOT1|TAF(II)170|TAF172|TAFII170	10q23.32	B-TFIID TATA-box binding protein associated factor 1	This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011]
BTBD1	chr15	83016422	83067354	-	ENSG00000064726.9	protein_coding	C15orf1|NS5ATP8	15q25.2	BTB domain containing 1	The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
BTBD10	chr11	13388001	13463297	-	ENSG00000148925.10	protein_coding	GMRP-1|GMRP1	11p15.3	BTB domain containing 10	Ubiquitous expression in testis (RPKM 14.0), brain (RPKM 12.4) and 24 other tissues
BTBD11	chr12	107318413	107659642	+	ENSG00000151136.14	protein_coding	ABTB2B	12q23.3	BTB domain containing 11	Biased expression in esophagus (RPKM 5.5), thyroid (RPKM 5.2) and 13 other tissues
BTBD16	chr10	122271306	122338162	+	ENSG00000138152.8	protein_coding	C10orf87	10q26.13	BTB domain containing 16	This gene encodes a protein that contains a BTB/POZ domain. This domain mediates protein-protein interactions. A mutation in this gene may be associated with bipolar disorder. [provided by RefSeq, Sep 2016]
BTBD17	chr17	74356416	74361946	-	ENSG00000204347.3	protein_coding	BTBD17A|LGALS3BPL|TANGO10A	17q25.1	BTB domain containing 17	Predicted to be involved in negative regulation of viral genome replication and response to virus. Predicted to be located in plasma membrane. Predicted to colocalize with cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
BTBD18	chr11	57743514	57751781	-	ENSG00000233436.7	protein_coding	-	11q12.1	BTB domain containing 18	Broad expression in testis (RPKM 1.6), adrenal (RPKM 1.4) and 18 other tissues
BTBD19	chr1	44808482	44815585	+	ENSG00000222009.8	protein_coding	-	1p34.1	BTB domain containing 19	-
BTBD2	chr19	1985438	2034881	-	ENSG00000133243.8	protein_coding	-	19p13.3	BTB domain containing 2	Ubiquitous expression in ovary (RPKM 26.1), kidney (RPKM 19.8) and 25 other tissues
BTBD3	chr20	11890723	11926609	+	ENSG00000132640.14	protein_coding	dJ742J24.1	20p12.2	BTB domain containing 3	Annotation category: partial on reference assembly
BTBD6	chr14	105248490	105251093	+	ENSG00000184887.13	protein_coding	BDPL	14q32.33	BTB domain containing 6	Ubiquitous expression in fat (RPKM 41.1), testis (RPKM 32.0) and 24 other tissues
BTBD7	chr14	93237550	93333092	-	ENSG00000011114.14	protein_coding	FUP1	14q32.12	BTB domain containing 7	Ubiquitous expression in thyroid (RPKM 8.5), endometrium (RPKM 5.4) and 25 other tissues
BTBD7P1	chr10	13156684	13158136	-	ENSG00000203414.2	processed_pseudogene	-	10p13	BTB domain containing 7 pseudogene 1	-
BTBD8	chr1	92080305	92147840	+	ENSG00000284413.1	protein_coding	KIAA1107	1p22.1	BTB domain containing 8	-
BTBD9	chr6	38168451	38640148	-	ENSG00000183826.16	protein_coding	dJ322I12.1	6p21.2	BTB domain containing 9	This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]
BTC	chr4	74744759	74794686	-	ENSG00000174808.11	protein_coding	-	4q13.3	betacellulin	Broad expression in skin (RPKM 3.9), esophagus (RPKM 3.5) and 18 other tissues
BTD	chr3	15601341	15645822	+	ENSG00000169814.12	protein_coding	-	3p25.1	biotinidase	Ubiquitous expression in kidney (RPKM 6.6), fat (RPKM 5.9) and 25 other tissues
BTF3	chr5	73498408	73505635	+	ENSG00000145741.15	protein_coding	BETA-NAC|BTF3a|BTF3b|NACB	5q13.2	basic transcription factor 3	This gene encodes the basic transcription factor 3. This protein forms a stable complex with RNA polymerase IIB and is required for transcriptional initiation. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]
BTF3L4	chr1	52056125	52090716	+	ENSG00000134717.17	protein_coding	-	1p32.3	basic transcription factor 3 like 4	-
BTF3P5	chr2	55435156	55435622	-	ENSG00000233594.2	processed_pseudogene	-	2p16.1	basic transcription factor 3 pseudogene 5	-
BTG1	chr12	92140278	92145897	-	ENSG00000133639.4	protein_coding	APRO2	12q21.33	BTG anti-proliferation factor 1	This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest in the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protein interacts with several nuclear receptors, and functions as a coactivator of cell differentiation. This locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case of B-cell chronic lymphocytic leukemia. [provided by RefSeq, Oct 2008]
BTG2-DT	chr1	 203298758	203305325	-	ENSG00000233791	ncRNA	LINC01136	1q32.1	BTG2 divergent transcript	-
BTG3	chr21	17593653	17612947	-	ENSG00000154640.14	protein_coding	ANA|ANA/BTG3|APRO4|TOB5|TOB55|TOFA	21q21.1	BTG anti-proliferation factor 3	The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein might play a role in neurogenesis in the central nervous system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
BTLA	chr3	112463968	112499561	-	ENSG00000186265.9	protein_coding	BTLA1|CD272	3q13.2	B and T lymphocyte associated	This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis. [provided by RefSeq, Aug 2011]
BTN1A1	chr6	26501221	26510422	+	ENSG00000124557.12	protein_coding	BT|BTN|BTN1	6p22.2	butyrophilin subfamily 1 member A1	Butyrophilin is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families [provided by RefSeq, Jul 2008]
BTN2A1	chr6	26457904	26476621	+	ENSG00000112763.15	protein_coding	BK14H9.1|BT2.1|BTF1|BTN2.1|DJ3E1.1	6p22.2	butyrophilin subfamily 2 member A1	This gene encodes a member of the immunoglobulin superfamily. The gene is located in a cluster of butyrophilin-like genes in the juxta-telomeric region of the major histocompatibility complex on chromosome 6. A pseudogene of this gene has been identified in this cluster. The encoded protein is an integral plasma membrane protein involved in lipid, fatty-acid, and sterol metabolism. Alterations in this gene may be associated with several disease states including metabolic syndrome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
BTN2A2	chr6	26383096	26394874	+	ENSG00000124508.16	protein_coding	BT2.2|BTF2|BTN2.2	6p22.2	butyrophilin subfamily 2 member A2	Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type I receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
BTN2A3P	chr6	26421391	26432383	+	ENSG00000124549.14	transcribed_unprocessed_pseudogene	BTN2.3|BTN2A3	6p22.2	butyrophilin subfamily 2 member A3, pseudogene	The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A3) and BTN3 (e.g., BNT3A1; MIM 613593) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010]
BTN3A1	chr6	26402237	26415216	+	ENSG00000026950.16	protein_coding	BT3.1|BTF5|BTN3.1|CD277	6p22.2	butyrophilin subfamily 3 member A1	The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A1) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010]
BTN3A2	chr6	26365159	26378320	+	ENSG00000186470.13	protein_coding	BT3.2|BTF4|BTN3.2|CD277	6p22.2	butyrophilin subfamily 3 member A2	This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in the adaptive immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
BTN3A3	chr6	26440472	26453415	+	ENSG00000111801.15	protein_coding	BTF3|BTN3.3	6p22.2	butyrophilin subfamily 3 member A3	The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A3) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010]
BTNL2	chr6	32393963	32407128	-	ENSG00000204290.10	protein_coding	BTL-II|BTN7|HSBLMHC1|SS2	6p21.32	butyrophilin like 2	This gene encodes a major histocompatibility complex, class II associated, type I transmembrane protein which belongs to the butyrophilin-like B7 family of immunoregulators. It is thought to be involved in immune surveillance, serving as a negative T-cell regulator by decreasing T-cell proliferation and cytokine release. The encoded protein contains an N-terminal signal peptide, two pairs of immunoglobulin-like domains, separated by a heptad peptide sequence, and a C-terminal transmembrane domain. Naturally occurring mutations in this gene are associated with sarcoidosis, rheumatoid arthritis, ulcerative colitis, inflammatory bowel disease, myositis, type 1 diabetes, systemic lupus erythematosus, acute coronary syndrome, and prostate cancer. [provided by RefSeq, May 2017]
BTNL8	chr5	180899077	180950906	+	ENSG00000113303.11	protein_coding	BTN9.2	5q35.3	butyrophilin like 8	Biased expression in duodenum (RPKM 27.0), small intestine (RPKM 20.3) and 3 other tissues
BTNL9	chr5	181040225	181061523	+	ENSG00000165810.16	protein_coding	BTN3|BTN8|VDLS1900	5q35.3	butyrophilin like 9	Biased expression in fat (RPKM 71.4), lung (RPKM 16.7) and 4 other tissues
BTRC	chr10	101354033	101557321	+	ENSG00000166167.17	protein_coding	BETA-TRCP|FBW1A|FBXW1|FBXW1A|FWD1|bTrCP|bTrCP1|betaTrCP	10q24.32	beta-transducin repeat containing E3 ubiquitin protein ligase	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbws class; in addition to an F-box, this protein contains multiple WD-40 repeats. The encoded protein mediates degradation of CD4 via its interaction with HIV-1 Vpu. It has also been shown to ubiquitinate phosphorylated NFKBIA (nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha), targeting it for degradation and thus activating nuclear factor kappa-B. Alternatively spliced transcript variants have been described. A related pseudogene exists in chromosome 6. [provided by RefSeq, Mar 2012]
BUB1B	chr15	40161023	40221136	+	ENSG00000156970.12	protein_coding	BUB1beta|BUBR1|Bub1A|MAD3L|MVA1|SSK1|hBUBR1	15q15.1	BUB1 mitotic checkpoint serine/threonine kinase B	This gene encodes a kinase involved in spindle checkpoint function. The protein has been localized to the kinetochore and plays a role in the inhibition of the anaphase-promoting complex/cyclosome (APC/C), delaying the onset of anaphase and ensuring proper chromosome segregation. Impaired spindle checkpoint function has been found in many forms of cancer. [provided by RefSeq, Jul 2008]
BUB3	chr10	123154277	123170467	+	ENSG00000154473.17	protein_coding	BUB3L|hBUB3	10q26.13	BUB3 mitotic checkpoint protein	This gene encodes a protein involved in spindle checkpoint function. The encoded protein contains four WD repeat domains and has sequence similarity with the yeast BUB3 protein. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
BUD13	chr11	116748170	116772988	-	ENSG00000137656.11	protein_coding	Cwc26|fSAP71	11q23.3	BUD13 homolog	Ubiquitous expression in testis (RPKM 10.5), lymph node (RPKM 6.1) and 25 other tissues
BUD23	chr7	 73683597	73698212	+	ENSG00000071462	protein-coding	HASJ4442|HUSSY-3|MERM1|PP3381|WBMT|WBSCR22	7q11.23	BUD23 rRNA methyltransferase and ribosome maturation factor	This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]
BUD31	chr7	99408641	99419616	+	ENSG00000106245.10	protein_coding	Cwc14|EDG-2|EDG2|G10|YCR063W|fSAP17	7q22.1	BUD31 homolog	Ubiquitous expression in testis (RPKM 25.3), bone marrow (RPKM 23.9) and 25 other tissues
BVES	chr6	105096822	105137174	-	ENSG00000112276.13	protein_coding	CARICK|HBVES|LGMD2X|LGMDR25|POP1|POPDC1	6q21	blood vessel epicardial substance	This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in development of these tissues. The mouse ortholog may be involved in the regeneration of adult skeletal muscle and may act as a cell adhesion molecule in coronary vasculogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
BVES-AS1	chr6	105136308	105169945	+	ENSG00000203808.10	antisense	C6orf112|bA99L11.2	6q21	BVES antisense RNA 1	Biased expression in testis (RPKM 4.5), heart (RPKM 0.8) and 3 other tissues
BX470102.3	chr1	153533603	153535115	+	ENSG00000238279.1	antisense	-	-	-	-
BYSL	chr6	41921188	41933046	+	ENSG00000112578.9	protein_coding	BYSTIN|Enp1	6p21.1	bystin like	Bystin is expressed as a 2-kb major transcript and a 3.6-kb minor transcript in SNG-M cells and in human trophoblastic teratocarcinoma HT-H cells. Protein binding assays determined that bystin binds directly to trophinin and tastin, and that binding is enhanced when cytokeratins 8 and 18 are present. Immunocytochemistry of HT-H cells showed that bystin colocalizes with trophinin, tastin, and the cytokeratins, suggesting that these molecules form a complex in trophectoderm cells at the time of implantation. Using immunohistochemistry it was determined that trophinin and bystin are found in the placenta from the sixth week of pregnancy. Both proteins were localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the levels of trophinin, tastin, and bystin decreased and then disappeared from placental villi. [provided by RefSeq, Jul 2008]
BZW1	chr2	200810594	200827338	+	ENSG00000082153.17	protein_coding	BZAP45|Nbla10236	2q33.1	basic leucine zipper and W2 domains 1	Enables RNA binding activity and cadherin binding activity. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
BZW2	chr7	16646131	16706523	+	ENSG00000136261.14	protein_coding	5MP1|HSPC028|MST017|MSTP017	7p21.1	basic leucine zipper and W2 domains 2	Broad expression in heart (RPKM 82.0), placenta (RPKM 43.3) and 22 other tissues
C10orf105	chr10	71711702	71737824	-	ENSG00000214688.5	protein_coding	-	10q22.1	chromosome 10 open reading frame 105	-
C10orf55	chr10	73909969	73922777	-	ENSG00000222047.8	protein_coding	-	10q22.2	chromosome 10 putative open reading frame 55	-
C10orf62	chr10	97589727	97590934	+	ENSG00000203942.4	protein_coding	bA548K23.1	10q24.2	chromosome 10 open reading frame 62	-
C10orf67	chr10	23201916	23344845	-	ENSG00000179133.12	protein_coding	C10orf115|LINC01552	10p12.2	chromosome 10 open reading frame 67	Biased expression in testis (RPKM 1.5), lung (RPKM 0.5) and 2 other tissues
C10orf71	chr10	49299193	49327487	+	ENSG00000177354.11	protein_coding	CEFIP	10q11.23	chromosome 10 open reading frame 71	Restricted expression toward heart (RPKM 13.9)
C10orf71-AS1	chr10	49296112	49299018	-	ENSG00000236208.1	antisense	-	10q11.23	C10orf71 antisense RNA 1	-
C10orf88	chr10	122930903	122954403	-	ENSG00000119965.12	protein_coding	PAAT	10q26.13	chromosome 10 open reading frame 88	Broad expression in testis (RPKM 4.0), brain (RPKM 1.9) and 24 other tissues
C10orf95	chr10	102449837	102451543	-	ENSG00000120055.7	protein_coding	-	10q24.32	chromosome 10 open reading frame 95	-
C10orf95-AS1	chr10	 102449817	102456293	+	ENSG00000269609	ncRNA	RPARP-AS1	10q24.32	C10orf95 antisense RNA 1	-
C11orf1	chr11	111878935	111885975	+	ENSG00000137720.7	protein_coding	-	11q23.1	chromosome 11 open reading frame 1	-
C11orf16	chr11	8920076	8933006	-	ENSG00000176029.13	protein_coding	-	11p15.4	chromosome 11 open reading frame 16	-
C11orf21	chr11	2295645	2303049	-	ENSG00000110665.11	protein_coding	-	11p15.5	chromosome 11 open reading frame 21	-
C11orf24	chr11	68261335	68272001	-	ENSG00000171067.10	protein_coding	DM4E3	11q13.2	chromosome 11 open reading frame 24	Ubiquitous expression in small intestine (RPKM 25.6), duodenum (RPKM 22.6) and 25 other tissues
C11orf49	chr11	46936689	47164385	+	ENSG00000149179.13	protein_coding	-	11p11.2	chromosome 11 open reading frame 49	-
C11orf52	chr11	111918032	111926872	+	ENSG00000149300.9	protein_coding	-	11q23.1	chromosome 11 open reading frame 52	-
C11orf53	chr11	111245805	111286401	+	ENSG00000150750.7	protein_coding	-	11q23.1	chromosome 11 open reading frame 53	-
C11orf54	chr11	93741591	93764749	+	ENSG00000182919.14	protein_coding	PTD012|PTOD012	11q21	chromosome 11 open reading frame 54	Broad expression in kidney (RPKM 50.9), liver (RPKM 12.2) and 19 other tissues
C11orf58	chr11	16613132	16756881	+	ENSG00000110696.9	protein_coding	IMAGE145052|SMAP	11p15.2	chromosome 11 open reading frame 58	Ubiquitous expression in thyroid (RPKM 25.7), endometrium (RPKM 22.9) and 25 other tissues
C11orf65	chr11	108308519	108467531	-	ENSG00000166323.12	protein_coding	MFI	11q22.3	chromosome 11 open reading frame 65	Biased expression in testis (RPKM 4.7), lymph node (RPKM 0.9) and 11 other tissues
C11orf68	chr11	65916808	65919117	-	ENSG00000175573.6	protein_coding	BLES03|P5326	11q13.1	chromosome 11 open reading frame 68	Ubiquitous expression in ovary (RPKM 21.4), testis (RPKM 21.1) and 25 other tissues
C11orf80	chr11	66744451	66843328	+	ENSG00000173715.15	protein_coding	HYDM4|TOP6BL|TOPOVIBL	11q13.2	chromosome 11 open reading frame 80	Broad expression in skin (RPKM 13.7), testis (RPKM 6.8) and 22 other tissues
C11orf86	chr11	66975277	66977004	+	ENSG00000173237.4	protein_coding	-	11q13.2	chromosome 11 open reading frame 86	-
C11orf87	chr11	109422120	109429114	+	ENSG00000185742.6	protein_coding	LOH11CR1A|NEURIM1	11q22.3	chromosome 11 open reading frame 87	Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
C12orf29	chr12	88033846	88050160	+	ENSG00000133641.17	protein_coding	-	12q21.32	chromosome 12 open reading frame 29	-
C12orf4	chr12	4487728	4538508	-	ENSG00000047621.11	protein_coding	-	12p13.32	chromosome 12 open reading frame 4	Ubiquitous expression in brain (RPKM 4.7), thyroid (RPKM 4.4) and 25 other tissues
C12orf42	chr12	103237591	103496010	-	ENSG00000179088.14	protein_coding	-	12q23.2-q23.3	chromosome 12 open reading frame 42	-
C12orf43	chr12	121000486	121016502	-	ENSG00000157895.11	protein_coding	Custos	12q24.31	chromosome 12 open reading frame 43	Ubiquitous expression in kidney (RPKM 7.1), small intestine (RPKM 5.6) and 25 other tissues
C12orf54	chr12	48482503	48496512	+	ENSG00000177627.9	protein_coding	HSD-29|HSD-30	12q13.11	chromosome 12 open reading frame 54	Restricted expression toward testis (RPKM 8.9)
C12orf56	chr12	64264762	64391192	-	ENSG00000185306.12	protein_coding	-	12q14.2	chromosome 12 open reading frame 56	-
C12orf57	chr12	6942978	6946003	+	ENSG00000111678.10	protein_coding	C10|GRCC10	12p13.31	chromosome 12 open reading frame 57	This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
C12orf60	chr12	14803572	14906586	+	ENSG00000182993.3	protein_coding	-	12p13.1-p12.3	chromosome 12 open reading frame 60	-
C12orf71	chr12	27081058	27082514	-	ENSG00000214700.5	protein_coding	-	12p11.23	chromosome 12 open reading frame 71	-
C12orf73	chr12	103950202	103965708	-	ENSG00000204954.9	protein_coding	BR|BRAWNIN	12q23.3	chromosome 12 open reading frame 73	Ubiquitous expression in thyroid (RPKM 2.9), brain (RPKM 1.8) and 25 other tissues
C12orf75	chr12	105235290	105396097	+	ENSG00000235162.8	protein_coding	AGD3|OCC-1|OCC1	12q23.3	chromosome 12 open reading frame 75	Broad expression in gall bladder (RPKM 34.2), kidney (RPKM 32.8) and 21 other tissues
C12orf76	chr12	110027028	110073686	-	ENSG00000174456.13	protein_coding	-	12q24.11	chromosome 12 open reading frame 76	-
C13orf42	chr13	 51082119	51172388	-	ENSG00000226792	protein-coding	LINC00371|LINC00372	13q14.3	chromosome 13 open reading frame 42	Low expression observed in reference dataset
C14orf119	chr14	23094765	23100462	+	ENSG00000179933.5	protein_coding	-	14q11.2	chromosome 14 open reading frame 119	Ubiquitous expression in urinary bladder (RPKM 9.1), thyroid (RPKM 8.5) and 25 other tissues
C14orf178	chr14	77760830	77769742	+	ENSG00000197734.8	protein_coding	-	14q24.3	chromosome 14 open reading frame 178	-
C14orf180	chr14	104579684	104590515	+	ENSG00000184601.10	protein_coding	C14orf77|NRAC	14q32.33	chromosome 14 open reading frame 180	Biased expression in fat (RPKM 41.1) and heart (RPKM 22.1)
C14orf39	chr14	60396469	60515543	-	ENSG00000179008.8	protein_coding	POF18|SPGF52|Six6os1	14q23.1	chromosome 14 open reading frame 39	Biased expression in testis (RPKM 4.3), salivary gland (RPKM 0.6) and 3 other tissues
C14orf93	chr14	22985908	23010166	-	ENSG00000100802.14	protein_coding	RTFC	14q11.2	chromosome 14 open reading frame 93	Ubiquitous expression in skin (RPKM 1.7), thyroid (RPKM 1.6) and 25 other tissues
C15orf39	chr15	75195643	75212169	+	ENSG00000167173.18	protein_coding	-	15q24.2	chromosome 15 open reading frame 39	-
C15orf40	chr15	82988441	83011641	-	ENSG00000169609.13	protein_coding	-	15q25.2	chromosome 15 open reading frame 40	-
C15orf48	chr15	45430529	45448761	+	ENSG00000166920.12	protein_coding	COXFA4L3|FOAP-11|MIR147BHG|MISTRAV|MOCCI|NMES1	15q21.1	chromosome 15 open reading frame 48	This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gene is expressed in the the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jun 2012]
C15orf61	chr15	67521068	67530143	+	ENSG00000189227.5	protein_coding	-	15q23	chromosome 15 open reading frame 61	-
C15orf62	chr15	40770080	40772449	+	ENSG00000188277.9	protein_coding	-	15q15.1	chromosome 15 open reading frame 62	-
C15orf65	chr15	55408548	55418764	+	ENSG00000261652.2	protein_coding	-	15q21.3	chromosome 15 open reading frame 65	-
C16orf46	chr16	81053497	81077267	-	ENSG00000166455.13	protein_coding	-	16q23.2	chromosome 16 open reading frame 46	-
C16orf54	chr16	29742463	29746006	-	ENSG00000185905.3	protein_coding	-	16p11.2	chromosome 16 open reading frame 54	-
C16orf72	chr16	9091648	9121640	+	ENSG00000182831.11	protein_coding	PRO0149|TAPR1	16p13.2	chromosome 16 open reading frame 72	Ubiquitous expression in bone marrow (RPKM 30.6), brain (RPKM 9.3) and 25 other tissues
C16orf74	chr16	85690084	85751129	-	ENSG00000154102.10	protein_coding	-	16q24.1	chromosome 16 open reading frame 74	-
C16orf86	chr16	67666816	67668758	+	ENSG00000159761.14	protein_coding	-	16q22.1	chromosome 16 open reading frame 86	-
C16orf87	chr16	46796607	46831411	-	ENSG00000155330.9	protein_coding	-	16q11.2	chromosome 16 open reading frame 87	-
C16orf89	chr16	5044122	5066110	-	ENSG00000153446.15	protein_coding	-	16p13.3	chromosome 16 open reading frame 89	Biased expression in thyroid (RPKM 83.5), lung (RPKM 41.7) and 7 other tissues
C16orf91	chr16	1419744	1420800	-	ENSG00000174109.4	protein_coding	CCSMST1|URLC5|gs103	16p13.3	chromosome 16 open reading frame 91	Ubiquitous expression in adrenal (RPKM 6.1), brain (RPKM 5.9) and 25 other tissues
C16orf92	chr16	30023334	30027736	+	ENSG00000167194.7	protein_coding	FIMP	16p11.2	chromosome 16 open reading frame 92	Restricted expression toward testis (RPKM 8.5)
C16orf95	chr16	87083562	87317420	-	ENSG00000260456.6	protein_coding	-	16q24.2	chromosome 16 open reading frame 95	-
C16orf96	chr16	4556490	4600714	+	ENSG00000205832.7	protein_coding	-	16p13.3	chromosome 16 open reading frame 96	-
C17orf100	chr17	6651718	6693202	+	ENSG00000256806.5	protein_coding	-	17p13.1	chromosome 17 open reading frame 100	-
C17orf107	chr17	4899418	4902932	+	ENSG00000205710.3	protein_coding	-	17p13.2	chromosome 17 open reading frame 107	-
C17orf49	chr17	7014495	7017525	+	ENSG00000258315.5	protein_coding	BAP18|HEPIS	17p13.1	chromosome 17 open reading frame 49	Ubiquitous expression in bone marrow (RPKM 37.2), lymph node (RPKM 34.4) and 25 other tissues
C17orf50	chr17	35760897	35765079	+	ENSG00000270806.1	protein_coding	-	17q12	chromosome 17 open reading frame 50	-
C17orf58	chr17	67991101	67996431	-	ENSG00000186665.9	protein_coding	-	17q24.2	chromosome 17 open reading frame 58	-
C17orf64	chr17	60392429	60431421	+	ENSG00000141371.12	protein_coding	-	17q23.2	chromosome 17 open reading frame 64	-
C17orf67	chr17	56791913	56838773	-	ENSG00000214226.8	protein_coding	-	17q22	chromosome 17 open reading frame 67	-
C17orf75	chr17	32324565	32350023	-	ENSG00000108666.9	protein_coding	NJMU-R1|SRI2	17q11.2	chromosome 17 open reading frame 75	Ubiquitous expression in testis (RPKM 4.3), thyroid (RPKM 4.1) and 25 other tissues
C17orf78	chr17	37375986	37392708	+	ENSG00000278505.4	protein_coding	-	17q12	chromosome 17 open reading frame 78	-
C17orf80	chr17	73232233	73248947	+	ENSG00000141219.15	protein_coding	HLC-8|MIG3|SPEP1	17q25.1	chromosome 17 open reading frame 80	Ubiquitous expression in testis (RPKM 11.0), thyroid (RPKM 5.9) and 25 other tissues
C17orf97	chr17	410327	431062	+	ENSG00000187624.8	protein_coding	CK20|LIAT1	17p13.3	chromosome 17 open reading frame 97	Biased expression in testis (RPKM 22.4), thyroid (RPKM 3.9) and 13 other tissues
C17orf98	chr17	38835088	38841455	-	ENSG00000275489.1	protein_coding	-	17q12	chromosome 17 open reading frame 98	-
C17orf99	chr17	78146353	78166177	+	ENSG00000187997.11	protein_coding	IL-40|UNQ464	17q25.3	chromosome 17 open reading frame 99	Biased expression in bone marrow (RPKM 1.9) and lymph node (RPKM 0.1)
C18orf21	chr18	35972083	35979286	+	ENSG00000141428.16	protein_coding	HsT3108|PNAS-124|PNAS-131|XTP13	18q12.2	chromosome 18 open reading frame 21	Ubiquitous expression in testis (RPKM 16.8), bone marrow (RPKM 16.7) and 25 other tissues
C18orf25	chr18	46173553	46266991	+	ENSG00000152242.10	protein_coding	ARKL1|Ark2N|RNF111L1	18q21.1	chromosome 18 open reading frame 25	Ubiquitous expression in esophagus (RPKM 12.5), bone marrow (RPKM 9.9) and 25 other tissues
C18orf32	chr18	49477250	49487252	-	ENSG00000177576.11	protein_coding	-	18q21.1	chromosome 18 open reading frame 32	-
C18orf54	chr18	54357917	54385218	+	ENSG00000166845.13	protein_coding	LAS2	18q21.2	chromosome 18 open reading frame 54	Broad expression in testis (RPKM 6.1), placenta (RPKM 1.1) and 15 other tissues
C19orf12	chr19	29698886	29715789	-	ENSG00000131943.17	protein_coding	MPAN|NBIA3|NBIA4|SPG43	19q12	chromosome 19 open reading frame 12	This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
C19orf18	chr19	57958437	57974534	-	ENSG00000177025.3	protein_coding	-	19q13.43	chromosome 19 open reading frame 18	-
C19orf25	chr19	1461143	1479556	-	ENSG00000119559.15	protein_coding	-	19p13.3	chromosome 19 open reading frame 25	-
C19orf33	chr19	38304161	38305009	+	ENSG00000167644.11	protein_coding	H2RSP|IMUP|IMUP-1|IMUP-2	19q13.2	chromosome 19 open reading frame 33	The protein encoded by this gene has been shown to be upregulated in SV40-immortalized fibroblasts as well as in endometrial carcinoma cells. The encoded protein is found primarily in the nucleus. This protein may play a role in placental development and diseases such as pre-eclampsia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
C19orf38	chr19	10836575	10869790	+	ENSG00000214212.8	protein_coding	HIDE1	19p13.2	chromosome 19 open reading frame 38	Biased expression in bone marrow (RPKM 25.7), spleen (RPKM 5.5) and 5 other tissues
C19orf44	chr19	16496311	16521352	+	ENSG00000105072.8	protein_coding	-	19p13.11	chromosome 19 open reading frame 44	-
C19orf47	chr19	40319536	40348527	-	ENSG00000160392.13	protein_coding	-	19q13.2	chromosome 19 open reading frame 47	-
C19orf53	chr19	13774168	13778462	+	ENSG00000104979.8	protein_coding	HSPC023|LYDG10	19p13.13	chromosome 19 open reading frame 53	Ubiquitous expression in ovary (RPKM 36.1), heart (RPKM 32.6) and 25 other tissues
C19orf54	chr19	40740856	40751553	-	ENSG00000188493.14	protein_coding	-	19q13.2	chromosome 19 open reading frame 54	-
C19orf67	chr19	14081619	14085875	-	ENSG00000188032.9	protein_coding	-	19p13.12	chromosome 19 open reading frame 67	-
C19orf71	chr19	3539154	3544030	+	ENSG00000183397.5	protein_coding	-	19p13.3	chromosome 19 open reading frame 71	-
C19orf73	chr19	49118397	49119140	-	ENSG00000221916.3	protein_coding	-	19q13.33	chromosome 19 open reading frame 73	-
C19orf81	chr19	50649445	50659310	+	ENSG00000235034.6	protein_coding	-	19q13.33	chromosome 19 open reading frame 81	-
C19orf84	chr19	51388289	51390574	-	ENSG00000262874.1	protein_coding	-	19q13.41	chromosome 19 open reading frame 84	-
C1D	chr2	68041130	68110948	-	ENSG00000197223.11	protein_coding	LRP1|Rrp47|SUN-CoR|SUNCOR|hC1D	2p14	C1D nuclear receptor corepressor	The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/Translin complex formation. Alternate splicing results in multiple transcript variants that encode the same protein. Multiple pseudogenes of this gene are found on chromosome 10.[provided by RefSeq, Jun 2010]
C1DP4	chr10	80040621	80041044	-	ENSG00000227515.3	processed_pseudogene	-	10q22.3	C1D nuclear receptor corepressor pseudogene 4	-
C1GALT1	chr7	7156934	7248651	+	ENSG00000106392.10	protein_coding	C1GALT|T-synthase	7p22.1-p21.3	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	The protein encoded by this gene generates the common core 1 O-glycan structure, Gal-beta-1-3GalNAc-R, by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R. Core 1 is a precursor for many extended mucin-type O-glycans on cell surface and secreted glycoproteins. Studies in mice suggest that this gene plays a key role in thrombopoiesis and kidney homeostasis.[provided by RefSeq, Sep 2010]
C1GALT1C1L	chr2	43675151	43676322	-	ENSG00000223658.7	protein_coding	-	2p21	C1GALT1 specific chaperone 1 like	-
C1GALT1P1	chr12	69284397	69285485	+	ENSG00000257818.1	processed_pseudogene	-	12q15	C1GALT1 pseudogene 1	-
C1orf100	chr1	244352635	244389663	+	ENSG00000173728.10	protein_coding	-	1q44	chromosome 1 open reading frame 100	-
C1orf105	chr1	172420688	172468831	+	ENSG00000180999.10	protein_coding	-	1q24.3	chromosome 1 open reading frame 105	-
C1orf112	chr1	169662007	169854080	+	ENSG00000000460.16	protein_coding	-	1q24.2	chromosome 1 open reading frame 112	-
C1orf115	chr1	220689845	220699157	+	ENSG00000162817.6	protein_coding	RDD1	1q41	chromosome 1 open reading frame 115	Broad expression in small intestine (RPKM 62.0), duodenum (RPKM 56.9) and 23 other tissues
C1orf116	chr1	207018521	207032756	-	ENSG00000182795.12	protein_coding	SARG	1q32.1	chromosome 1 open reading frame 116	Biased expression in lung (RPKM 46.8), esophagus (RPKM 46.0) and 10 other tissues
C1orf122	chr1	37806979	37809454	+	ENSG00000197982.13	protein_coding	ALAESM	1p34.3	chromosome 1 open reading frame 122	Ubiquitous expression in brain (RPKM 12.1), kidney (RPKM 11.0) and 25 other tissues
C1orf127	chr1	10946471	10982037	-	ENSG00000175262.14	protein_coding	-	1p36.22	chromosome 1 open reading frame 127	-
C1orf131	chr1	231223763	231241187	-	ENSG00000143633.12	protein_coding	-	1q42.2	chromosome 1 open reading frame 131	-
C1orf141	chr1	67092165	67231853	-	ENSG00000203963.11	protein_coding	-	1p31.3	chromosome 1 open reading frame 141	-
C1orf146	chr1	92217940	92245813	+	ENSG00000203910.8	protein_coding	SCRE|SPO16	1p22.1	chromosome 1 open reading frame 146	Restricted expression toward testis (RPKM 3.0)
C1orf147	chr1	206491116	206497728	-	ENSG00000162888.4	antisense	-	1q32.1	chromosome 1 open reading frame 147	-
C1orf159	chr1	1081818	1116361	-	ENSG00000131591.17	protein_coding	-	1p36.33	chromosome 1 open reading frame 159	-
C1orf167	chr1	11761787	11789585	+	ENSG00000215910.7	protein_coding	-	1p36.22	chromosome 1 open reading frame 167	-
C1orf174	chr1	3889125	3900293	-	ENSG00000198912.10	protein_coding	-	1p36.32	chromosome 1 open reading frame 174	-
C1orf198	chr1	230837119	230869589	-	ENSG00000119280.16	protein_coding	-	1q42.2	chromosome 1 open reading frame 198	Broad expression in lung (RPKM 42.9), brain (RPKM 27.3) and 24 other tissues
C1orf21	chr1	184387058	184629020	+	ENSG00000116667.12	protein_coding	PIG13	1q25.3	chromosome 1 open reading frame 21	Ubiquitous expression in skin (RPKM 14.5), brain (RPKM 10.8) and 23 other tissues
C1orf210	chr1	43281883	43285617	-	ENSG00000253313.5	protein_coding	TEMP	1p34.2	chromosome 1 open reading frame 210	Broad expression in duodenum (RPKM 14.2), small intestine (RPKM 12.7) and 15 other tissues
C1orf216	chr1	35713875	35719472	-	ENSG00000142686.7	protein_coding	-	1p34.3	chromosome 1 open reading frame 216	-
C1orf220	chr1	178542752	178548889	+	ENSG00000213057.5	lincRNA	-	1q25.2	chromosome 1 putative open reading frame 220	-
C1orf226	chr1	162366908	162386818	+	ENSG00000239887.4	protein_coding	-	1q23.3	chromosome 1 open reading frame 226	-
C1orf35	chr1	228100726	228105411	-	ENSG00000143793.12	protein_coding	MMTAG2	1q42.13	chromosome 1 open reading frame 35	Ubiquitous expression in ovary (RPKM 5.8), skin (RPKM 5.7) and 25 other tissues
C1orf43	chr1	154206706	154220637	-	ENSG00000143612.19	protein_coding	HSPC012|NICE-3|NICE3|NS5ATP4|S863-3	1q21.3	chromosome 1 open reading frame 43	Ubiquitous expression in kidney (RPKM 53.9), fat (RPKM 47.2) and 25 other tissues
C1orf50	chr1	42767269	42775747	+	ENSG00000164008.14	protein_coding	-	1p34.2	chromosome 1 open reading frame 50	-
C1orf52	chr1	85249953	85259672	-	ENSG00000162642.13	protein_coding	gm117	1p22.3	chromosome 1 open reading frame 52	Ubiquitous expression in brain (RPKM 7.8), bone marrow (RPKM 7.7) and 25 other tissues
C1orf53	chr1	197902647	197907367	+	ENSG00000203724.10	protein_coding	-	1q31.3	chromosome 1 open reading frame 53	-
C1orf54	chr1	150268200	150280916	+	ENSG00000118292.8	protein_coding	-	1q21.2	chromosome 1 open reading frame 54	-
C1orf56	chr1	151047740	151051986	+	ENSG00000143443.9	protein_coding	MENT	1q21.3	chromosome 1 open reading frame 56	This gene is a proto-oncogene whose promoter is methylated by DNA methyltransferase 3B (DNMT3B), which represses the proto-oncogene. However, a catalytically inactive isoform of DNMT3B is overexpressed in lymphomas, leading to hypomethylation of the proto-oncogenes promoter and derepression of the proto-oncogene. [provided by RefSeq, Sep 2016]
C1orf68	chr1	152719522	152720470	+	ENSG00000198854.5	protein_coding	LEP7|XP32	1q21.3	chromosome 1 open reading frame 68	-
C1orf74	chr1	209779208	209784559	-	ENSG00000162757.4	protein_coding	URLC4	1q32.2	chromosome 1 open reading frame 74	Broad expression in lymph node (RPKM 8.4), spleen (RPKM 5.4) and 24 other tissues
C1orf87	chr1	59987269	60073770	-	ENSG00000162598.13	protein_coding	CREF	1p32.1	chromosome 1 open reading frame 87	Biased expression in testis (RPKM 1.8), lung (RPKM 1.6) and 3 other tissues
C1QA	chr1	22636506	22639608	+	ENSG00000173372.16	protein_coding	-	1p36.12	complement C1q A chain	Broad expression in spleen (RPKM 445.5), lymph node (RPKM 179.4) and 16 other tissues
C1QB	chr1	22652762	22661538	+	ENSG00000173369.15	protein_coding	-	1p36.12	complement C1q B chain	Broad expression in spleen (RPKM 482.2), lymph node (RPKM 181.6) and 15 other tissues
C1QBP	chr17	5432777	5448830	-	ENSG00000108561.8	protein_coding	COXPD33|GC1QBP|HABP1|SF2AP32|SF2p32|gC1Q-R|gC1qR|p32	17p13.2	complement C1q binding protein	The human complement subcomponent C1q associates with C1r and C1s in order to yield the first component of the serum complement system. The protein encoded by this gene is known to bind to the globular heads of C1q molecules and inhibit C1 activation. This protein has also been identified as the p32 subunit of pre-mRNA splicing factor SF2, as well as a hyaluronic acid-binding protein. [provided by RefSeq, Jul 2008]
C1QBPP2	chr11	66761575	66762399	-	ENSG00000213409.4	processed_pseudogene	-	11q13.2	complement C1q binding protein pseudogene 2	-
C1QC	chr1	22643630	22648110	+	ENSG00000159189.11	protein_coding	C1Q-C|C1QG	1p36.12	complement C1q C chain	This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]
C1QL1	chr17	44959693	44968071	-	ENSG00000131094.3	protein_coding	C1QRF|C1QTNF14|CRF|CTRP14	17q21.31	complement C1q like 1	Biased expression in brain (RPKM 10.8), kidney (RPKM 1.7) and 4 other tissues
C1QL2	chr2	119156243	119158889	-	ENSG00000144119.3	protein_coding	C1QTNF10|CTRP10	2q14.2	complement C1q like 2	Low expression observed in reference dataset
C1QL4	chr12	49332411	49337188	-	ENSG00000186897.4	protein_coding	C1QTNF11|CTRP11	12q13.12	complement C1q like 4	Low expression observed in reference dataset
C1QTNF1	chr17	79022814	79049788	+	ENSG00000173918.14	protein_coding	CTRP1|GIP|ZSIG37	17q25.3	C1q and TNF related 1	Broad expression in fat (RPKM 33.8), placenta (RPKM 15.4) and 21 other tissues
C1QTNF1-AS1	chr17	79019209	79027655	-	ENSG00000265096.1	antisense	-	17q25.3	C1QTNF1 antisense RNA 1	-
C1QTNF12	chr1	1242446	1246722	-	ENSG00000184163.3	protein_coding	C1QDC2|CTRP12|FAM132A	1p36.33	C1q and TNF related 12	Biased expression in duodenum (RPKM 4.0), small intestine (RPKM 3.7) and 7 other tissues
C1QTNF4	chr11	47589664	47594659	-	ENSG00000172247.3	protein_coding	CTRP4|ZACRP4	11p11.2	C1q and TNF related 4	Biased expression in brain (RPKM 5.9), bone marrow (RPKM 0.3) and 2 other tissues
C1QTNF6	chr22	37180167	37199385	-	ENSG00000133466.13	protein_coding	CTFP6|CTRP6|ZACRP6	22q12.3	C1q and TNF related 6	Broad expression in endometrium (RPKM 12.1), placenta (RPKM 6.4) and 16 other tissues
C1QTNF8	chr16	1090005	1096244	-	ENSG00000184471.7	protein_coding	CTRP8|UNQ5829	16p13.3	C1q and TNF related 8	Low expression observed in reference dataset
C1QTNF9	chr13	24307166	24322535	+	ENSG00000240654.6	protein_coding	AQL1|C1QTNF9A|CTRP9	13q12.12	C1q and TNF related 9	Enables identical protein binding activity. Predicted to be involved in signal transduction. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Apr 2022]
C1RL	chr12	7089587	7109273	-	ENSG00000139178.10	protein_coding	C1RL1|C1RLP|C1r-LP|CLSPa	12p13.31	complement C1r subcomponent like	Ubiquitous expression in liver (RPKM 37.4), adrenal (RPKM 16.4) and 22 other tissues
C1S	chr12	6988259	7071032	+	ENSG00000182326.14	protein_coding	EDSPD2	12p13.31	complement C1s	This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]
C2	chr6	31897785	31945672	+	ENSG00000166278.14	protein_coding	ARMD14|CO2	6p21.33	complement C2	Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009]
C2-AS1	chr6	31934474	31941724	-	ENSG00000281756.1	antisense	-	6p21.33	C2 antisense RNA 1	-
C20orf173	chr20	35523186	35529652	-	ENSG00000125975.13	protein_coding	dJ477O4.4	20q11.22	chromosome 20 open reading frame 173	Restricted expression toward testis (RPKM 5.0)
C20orf203	chr20	32631652	32673941	-	ENSG00000198547.8	lincRNA	-	20q11.21	chromosome 20 open reading frame 203	Low expression observed in reference dataset
C20orf204	chr20	 64033709	64039001	+	ENSG00000196421	protein-coding	LINC00176|NCRNA00176|PRR17	20q13.33	chromosome 20 open reading frame 204	Low expression observed in reference dataset
C20orf27	chr20	3753508	3768387	-	ENSG00000101220.17	protein_coding	-	20p13	chromosome 20 open reading frame 27	Ubiquitous expression in bone marrow (RPKM 20.0), fat (RPKM 18.1) and 24 other tissues
C21orf58	chr21	46300181	46323875	-	ENSG00000160298.17	protein_coding	-	21q22.3	chromosome 21 open reading frame 58	-
C21orf62	chr21	32793564	32813743	-	ENSG00000205929.10	protein_coding	B37|C21orf120|PRED81	21q22.11	chromosome 21 open reading frame 62	Biased expression in ovary (RPKM 6.0), kidney (RPKM 3.0) and 3 other tissues
C22orf23	chr22	37943050	37953669	-	ENSG00000128346.10	protein_coding	EVG1|dJ1039K5.6	22q13.1	chromosome 22 open reading frame 23	Broad expression in testis (RPKM 34.3), skin (RPKM 7.9) and 15 other tissues
C22orf31	chr22	29058672	29061844	-	ENSG00000100249.4	protein_coding	HS747E2A|bK747E2.1	22q12.1	chromosome 22 open reading frame 31	Biased expression in testis (RPKM 2.6), brain (RPKM 0.2) and 1 other tissue
C22orf39	chr22	19351368	19448232	-	ENSG00000242259.8	protein_coding	-	22q11.21	chromosome 22 open reading frame 39	-
C22orf46	chr22	41688939	41698136	+	ENSG00000184208.10	protein_coding	-	22q13.2	CTA-216E10.6	Ubiquitous expression in testis (RPKM 7.6), brain (RPKM 5.5) and 25 other tissues
C2CD2	chr21	41885112	41953890	-	ENSG00000157617.16	protein_coding	C21orf25|C21orf258|TMEM24L	21q22.3	C2 calcium dependent domain containing 2	Broad expression in adrenal (RPKM 38.9), fat (RPKM 23.4) and 21 other tissues
C2CD2L	chr11	119102198	119118544	+	ENSG00000172375.12	protein_coding	DLNB23|TMEM24	11q23.3	C2CD2 like	Ubiquitous expression in brain (RPKM 6.4), small intestine (RPKM 5.5) and 25 other tissues
C2CD3	chr11	74012714	74171210	-	ENSG00000168014.16	protein_coding	OFD14	11q13.4	C2 domain containing 3 centriole elongation regulator	This gene encodes a protein that functions as a regulator of centriole elongation. Studies of the orthologous mouse protein show that it promotes centriolar distal appendage assembly and is also required for the recruitment of other ciliogenic proteins, including intraflagellar transport proteins. Mutations in this gene cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting in malformations of the oral cavity, face and digits. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
C2CD4A	chr15	62066977	62070917	+	ENSG00000198535.5	protein_coding	FAM148A|NLF1	15q22.2	C2 calcium dependent domain containing 4A	Broad expression in endometrium (RPKM 1.1), colon (RPKM 0.5) and 14 other tissues
C2CD4D	chr1	151837819	151840557	-	ENSG00000225556.1	protein_coding	FAM148D	1q21.3	C2 calcium dependent domain containing 4D	Low expression observed in reference dataset
C2CD5	chr12	22448583	22544546	-	ENSG00000111731.12	protein_coding	CDP138|KIAA0528	12p12.1	C2 calcium dependent domain containing 5	Ubiquitous expression in thyroid (RPKM 12.3), colon (RPKM 12.2) and 25 other tissues
C2CD6	chr2	 201487421	201619178	-	ENSG00000155754	protein-coding	ALS2CR11	2q33.1	C2 calcium dependent domain containing 6	An autosomal recessive form of juvenile amyotrophic lateral sclerosis was originally mapped to a region of chromosome 2 that includes this gene. The encoded protein contains a calcium-dependent membrane targeting C2 domain. This domain is often found in proteins that are involved in membrane trafficking and signal transduction. [provided by RefSeq, Jun 2016]
C2orf15	chr2	99141485	99151487	+	ENSG00000273045.5	protein_coding	-	2q11.2	chromosome 2 open reading frame 15	-
C2orf16	chr2	27537386	27582721	+	ENSG00000221843.4	protein_coding	-	2p23.3	chromosome 2 open reading frame 16	-
C2orf42	chr2	70149880	70248615	-	ENSG00000115998.7	protein_coding	-	2p13.3	chromosome 2 open reading frame 42	-
C2orf49	chr2	105337359	105349211	+	ENSG00000135974.9	protein_coding	asw	2q12.2	chromosome 2 open reading frame 49	Ubiquitous expression in ovary (RPKM 7.4), endometrium (RPKM 6.7) and 25 other tissues
C2orf50	chr2	11133053	11146790	+	ENSG00000150873.11	protein_coding	-	2p25.1	chromosome 2 open reading frame 50	-
C2orf66	chr2	196805002	196810276	-	ENSG00000187944.2	protein_coding	IIDS6411|UNQ6411	2q33.1	chromosome 2 open reading frame 66	Low expression observed in reference dataset
C2orf68	chr2	85606654	85612066	-	ENSG00000168887.10	protein_coding	HCRCN81	2p11.2	chromosome 2 open reading frame 68	Ubiquitous expression in ovary (RPKM 7.0), endometrium (RPKM 6.7) and 25 other tissues
C2orf69	chr2	199911256	199955935	+	ENSG00000178074.5	protein_coding	COXPD53	2q33.1	chromosome 2 open reading frame 69	Ubiquitous expression in testis (RPKM 10.2), brain (RPKM 9.5) and 25 other tissues
C2orf72	chr2	231037490	231049719	+	ENSG00000204128.5	protein_coding	-	2q37.1	chromosome 2 open reading frame 72	-
C2orf73	chr2	54330034	54383742	+	ENSG00000177994.15	protein_coding	-	2p16.2	chromosome 2 open reading frame 73	-
C2orf74	chr2	61145068	61164829	+	ENSG00000237651.6	protein_coding	-	2p15	chromosome 2 open reading frame 74	-
C2orf76	chr2	119302225	119366828	-	ENSG00000186132.14	protein_coding	AIM29	2q14.2	chromosome 2 open reading frame 76	Ubiquitous expression in fat (RPKM 4.1), adrenal (RPKM 3.5) and 25 other tissues
C2orf88	chr2	189879609	190203484	+	ENSG00000187699.10	protein_coding	smAKAP	2q32.2	chromosome 2 open reading frame 88	Broad expression in colon (RPKM 10.9), small intestine (RPKM 9.1) and 21 other tissues
C2orf92	chr2	 97663941	97703066	+	ENSG00000228486	protein-coding	LINC01125	2q11.2	chromosome 2 open reading frame 92	Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
C3	chr19	6677704	6730562	-	ENSG00000125730.16	protein_coding	AHUS5|ARMD9|ASP|C3a|C3b|CPAMD1|HEL-S-62p	19p13.3	complement C3	Complement component C3 plays a central role in the activation of complement system. Its activation is required for both classical and alternative complement activation pathways. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form the mature protein, which is then further processed to generate numerous peptide products. The C3a peptide, also known as the C3a anaphylatoxin, modulates inflammation and possesses antimicrobial activity. Mutations in this gene are associated with atypical hemolytic uremic syndrome and age-related macular degeneration in human patients. [provided by RefSeq, Nov 2015]
C3AR1	chr12	8058302	8066471	-	ENSG00000171860.4	protein_coding	AZ3B|C3AR|HNFAG09	12p13.31	complement C3a receptor 1	C3a is an anaphylatoxin released during activation of the complement system. The protein encoded by this gene is an orphan G protein-coupled receptor for C3a. Binding of C3a by the encoded receptor activates chemotaxis, granule enzyme release, superoxide anion production, and bacterial opsonization. [provided by RefSeq, May 2016]
C3orf14	chr3	62318973	62336213	+	ENSG00000114405.10	protein_coding	HT021	3p14.2	chromosome 3 open reading frame 14	Broad expression in brain (RPKM 5.7), testis (RPKM 2.9) and 21 other tissues
C3orf18	chr3	50558025	50571027	-	ENSG00000088543.14	protein_coding	G20	3p21.31	chromosome 3 open reading frame 18	Broad expression in heart (RPKM 6.2), testis (RPKM 4.7) and 24 other tissues
C3orf22	chr3	126526999	126558965	-	ENSG00000180697.8	protein_coding	-	3q21.3	chromosome 3 open reading frame 22	-
C3orf33	chr3	155762617	155806351	-	ENSG00000174928.15	protein_coding	AC3-33	3q25.31	chromosome 3 open reading frame 33	Ubiquitous expression in thyroid (RPKM 2.9), adrenal (RPKM 2.8) and 25 other tissues
C3orf38	chr3	88149743	88168729	+	ENSG00000179021.9	protein_coding	-	3p11.1	chromosome 3 open reading frame 38	-
C3orf52	chr3	112086335	112131004	+	ENSG00000114529.12	protein_coding	TTMP	3q13.2	chromosome 3 open reading frame 52	Predicted to be located in endoplasmic reticulum membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
C3orf62	chr3	49268602	49277909	-	ENSG00000188315.7	protein_coding	MAPS	3p21.31	chromosome 3 open reading frame 62	Ubiquitous expression in testis (RPKM 4.1), bone marrow (RPKM 2.7) and 24 other tissues
C3orf70	chr3	185078050	185153014	-	ENSG00000187068.2	protein_coding	-	3q27.2	chromosome 3 open reading frame 70	-
C3orf84	chr3	49177632	49191858	-	ENSG00000236980.9	protein_coding	-	3p21.31	chromosome 3 open reading frame 84	-
C4A	chr6	31982024	32002681	+	ENSG00000244731.7	protein_coding	C4|C4A2|C4A3|C4A4|C4A6|C4AD|C4S|CO4|CPAMD2|RG	6p21.33	complement C4A (Rodgers blood group)	This gene encodes the acidic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain is cleaved to release C4 anaphylatoxin, an antimicrobial peptide and a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
C4A-AS1	chr6	31999976	32003521	-	ENSG00000233627.2	antisense	-	6p21.33	C4A antisense RNA 1	-
C4B	chr6	32014762	32035418	+	ENSG00000224389.8	protein_coding	C4B1|C4B12|C4B2|C4B3|C4B5|C4BD|C4B_2|C4F|CH|CO4|CPAMD3	6p21.33	complement C4B (Chido blood group)	This gene encodes the basic form of complement factor 4, and together with the C4A gene, is part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, May 2020]
C4BPA	chr1	207104262	207144972	+	ENSG00000123838.10	protein_coding	C4BP|PRP	1q32.2	complement component 4 binding protein alpha	This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Two pseudogenes of this gene are also found in the cluster. [provided by RefSeq, Jul 2008]
C4BPB	chr1	207088842	207099993	+	ENSG00000123843.12	protein_coding	C4BP	1q32.1	complement component 4 binding protein beta	This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. A single, unique beta-chain encoded by this gene assembles with seven identical alpha-chains into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. C4b-binding protein has a regulatory role in the coagulation system also, mediated through the beta-chain binding of protein S, a vitamin K-dependent protein that serves as a cofactor of activated protein C. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Alternative splicing gives rise to multiple transcript variants. [provided by RefSeq, Jul 2008]
C4orf17	chr4	99511004	99542303	+	ENSG00000138813.9	protein_coding	-	4q23	chromosome 4 open reading frame 17	-
C4orf3	chr4	119296419	119304445	-	ENSG00000164096.12	protein_coding	ALN|HCVFTP1	4q26	chromosome 4 open reading frame 3	Ubiquitous expression in esophagus (RPKM 59.1), fat (RPKM 46.0) and 25 other tissues
C4orf33	chr4	129093317	129116640	+	ENSG00000151470.12	protein_coding	-	4q28.2	chromosome 4 open reading frame 33	-
C4orf36	chr4	86876205	86936202	-	ENSG00000163633.10	protein_coding	-	4q21.3	chromosome 4 open reading frame 36	-
C4orf45	chr4	158893134	159038760	-	ENSG00000164123.6	protein_coding	-	4q32.1	chromosome 4 open reading frame 45	-
C4orf48	chr4	2041993	2043970	+	ENSG00000243449.6	protein_coding	CHR4_55	4p16.3	chromosome 4 open reading frame 48	Biased expression in colon (RPKM 2.0), small intestine (RPKM 1.6) and 10 other tissues
C4orf50	chr4	5897373	6018507	-	ENSG00000181215.14	protein_coding	-	4p16.2-p16.1	chromosome 4 open reading frame 50	-
C5	chr9	120952335	121050276	-	ENSG00000106804.7	protein_coding	C5D|C5a|C5b|CPAMD4|ECLZB	9q33.2	complement C5	This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
C5AR1	chr19	47290023	47322066	+	ENSG00000197405.7	protein_coding	C5A|C5AR|C5R1|CD88	19q13.32	complement C5a receptor 1	Biased expression in appendix (RPKM 41.3), bone marrow (RPKM 38.2) and 11 other tissues
C5orf22	chr5	31532266	31555058	+	ENSG00000082213.17	protein_coding	-	5p13.3	chromosome 5 open reading frame 22	-
C5orf24	chr5	134845680	134859737	+	ENSG00000181904.8	protein_coding	-	5q31.1	chromosome 5 open reading frame 24	-
C5orf34	chr5	43486701	43515145	-	ENSG00000172244.8	protein_coding	-	5p12	chromosome 5 open reading frame 34	-
C5orf47	chr5	173973779	174006140	+	ENSG00000185056.9	protein_coding	-	5q35.2	chromosome 5 open reading frame 47	-
C5orf49	chr5	7830378	7851490	-	ENSG00000215217.6	protein_coding	-	5p15.31	chromosome 5 open reading frame 49	Biased expression in testis (RPKM 8.1), lung (RPKM 2.5) and 5 other tissues
C5orf52	chr5	157671553	157680143	+	ENSG00000187658.6	protein_coding	-	5q33.3	chromosome 5 open reading frame 52	-
C5orf58	chr5	170232447	170252575	+	ENSG00000234511.8	protein_coding	-	5q35.1	chromosome 5 open reading frame 58	-
C5orf60	chr5	179641544	179645046	-	ENSG00000204661.9	processed_transcript	-	5q35.3	chromosome 5 open reading frame 60	Restricted expression toward testis (RPKM 6.8)
C5orf63	chr5	127042558	127073492	-	ENSG00000164241.13	protein_coding	YDR286C	5q23.2	chromosome 5 open reading frame 63	Ubiquitous expression in testis (RPKM 1.4), lymph node (RPKM 0.9) and 25 other tissues
C5orf64	chr5	61637708	61751763	+	ENSG00000178722.12	processed_transcript	-	5q12.1	chromosome 5 putative open reading frame 64	-
C5orf64-AS1	chr5	61732774	61735669	-	ENSG00000251575.2	lincRNA	-	5q12.1	C5orf64 antisense RNA 1	-
C5orf67	chr5	56511567	56606232	-	ENSG00000225940.5	protein_coding	-	5q11.2	chromosome 5 putative open reading frame 67	-
C6	chr5	41142234	41261438	-	ENSG00000039537.13	protein_coding	-	5p13.1	complement C6	Biased expression in liver (RPKM 126.4), heart (RPKM 11.8) and 2 other tissues
C6orf120	chr6	169702190	169704856	+	ENSG00000185127.6	protein_coding	-	6q27	chromosome 6 open reading frame 120	Ubiquitous expression in fat (RPKM 13.9), adrenal (RPKM 13.5) and 25 other tissues
C6orf132	chr6	42101118	42142619	-	ENSG00000188112.8	protein_coding	bA7K24.2	6p21.1	chromosome 6 open reading frame 132	Biased expression in esophagus (RPKM 16.8), skin (RPKM 9.1) and 11 other tissues
C6orf136	chr6	30647039	30653210	+	ENSG00000204564.11	protein_coding	-	6p21.33	chromosome 6 open reading frame 136	-
C6orf141	chr6	49550646	49561907	+	ENSG00000197261.11	protein_coding	-	6p12.3	chromosome 6 open reading frame 141	-
C6orf15	chr6	31111223	31112559	-	ENSG00000204542.2	protein_coding	STG	6p21.33	chromosome 6 open reading frame 15	Restricted expression toward skin (RPKM 1.3)
C6orf163	chr6	87344849	87365463	+	ENSG00000203872.6	protein_coding	-	6q15	chromosome 6 open reading frame 163	-
C6orf226	chr6	42890265	42890816	-	ENSG00000221821.3	protein_coding	-	6p21.1	chromosome 6 open reading frame 226	-
C6orf47	chr6	31658298	31660772	-	ENSG00000204439.3	protein_coding	D6S53E|G4|NG34	6p21.33	chromosome 6 open reading frame 47	-
C6orf58	chr6	127519455	127591817	+	ENSG00000184530.8	protein_coding	LEG1	6q22.33	chromosome 6 open reading frame 58	Biased expression in duodenum (RPKM 281.8), stomach (RPKM 185.1) and 1 other tissue
C6orf62	chr6	24704861	24720836	-	ENSG00000112308.12	protein_coding	Nbla00237|XTP12|dJ30M3.2	6p22.3	chromosome 6 open reading frame 62	Ubiquitous expression in testis (RPKM 42.5), spleen (RPKM 41.6) and 25 other tissues
C6orf89	chr6	36871870	36928964	+	ENSG00000198663.16	protein_coding	BRAP|PS1TP5TP1	6p21.2	chromosome 6 open reading frame 89	Note: BRAP (Gene ID: 8315) and C6orf89 (Gene ID: 221477) share the BRAP symbol/alias in common. BRAP is a widely used alternative name for chromosome 6 open reading frame 89 (C6orf89), which can be confused with the official symbol for BRCA1-associated protein (BRAP). [05 Jul 2018]
C7	chr5	40909252	40982939	+	ENSG00000112936.18	protein_coding	-	5p13.1	complement C7	Broad expression in adrenal (RPKM 552.9), gall bladder (RPKM 224.3) and 14 other tissues
C7orf25	chr7	42908726	42912305	-	ENSG00000136197.12	protein_coding	-	7p14.1	chromosome 7 open reading frame 25	-
C7orf26	chr7	6590017	6608726	+	ENSG00000146576.12	protein_coding	-	7p22.1	chromosome 7 open reading frame 26	-
C7orf31	chr7	25134697	25180356	-	ENSG00000153790.11	protein_coding	-	7p15.3	chromosome 7 open reading frame 31	-
C7orf50	chr7	996986	1138260	-	ENSG00000146540.14	protein_coding	YCR016W	7p22.3	chromosome 7 open reading frame 50	Ubiquitous expression in kidney (RPKM 5.2), brain (RPKM 3.9) and 25 other tissues
C7orf61	chr7	100456615	100464271	-	ENSG00000185955.4	protein_coding	-	7q22.1	chromosome 7 open reading frame 61	-
C8G	chr9	136945246	136946974	+	ENSG00000176919.11	protein_coding	C8C	9q34.3	complement C8 gamma chain	The protein encoded by this gene belongs to the lipocalin family. It is one of the three subunits that constitutes complement component 8 (C8), which is composed of a disulfide-linked C8 alpha-gamma heterodimer and a non-covalently associated C8 beta chain. C8 participates in the formation of the membrane attack complex (MAC) on bacterial cell membranes. While subunits alpha and beta play a role in complement-mediated bacterial killing, the gamma subunit is not required for the bactericidal activity. [provided by RefSeq, Jul 2011]
C8orf33	chr8	145052378	145056030	+	ENSG00000182307.12	protein_coding	-	8q24.3	chromosome 8 open reading frame 33	-
C8orf34	chr8	68330722	68819022	+	ENSG00000165084.15	protein_coding	VEST-1|VEST1	8q13.2	chromosome 8 open reading frame 34	This gene encodes a protein that is related to the cyclic AMP dependent protein kinase regulators. Naturally occurring mutations in this gene are associated with an increased risk for severe toxicities, such as diarrhea and neutropenia, in patients undergoing chemotherapeutic treatment. [provided by RefSeq, Mar 2017]
C8orf44	chr8	66667615	66685564	+	ENSG00000213865.7	protein_coding	-	8q13.1	chromosome 8 open reading frame 44	-
C8orf48	chr8	13566843	13568287	+	ENSG00000164743.4	protein_coding	-	8p22	chromosome 8 open reading frame 48	-
C8orf58	chr8	22599601	22604150	+	ENSG00000241852.9	protein_coding	-	8p21.3	chromosome 8 open reading frame 58	-
C8orf74	chr8	10672637	10700593	+	ENSG00000171060.10	protein_coding	-	8p23.1	chromosome 8 open reading frame 74	-
C8orf82	chr8	144525733	144529132	-	ENSG00000213563.6	protein_coding	-	8q24.3	chromosome 8 open reading frame 82	-
C8orf86	chr8	38510834	38528662	-	ENSG00000196166.3	protein_coding	-	8p11.22	chromosome 8 open reading frame 86	-
C9	chr5	39284262	39424868	-	ENSG00000113600.10	protein_coding	ARMD15|C9D	5p13.1	complement C9	This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]
C9orf129	chr9	93318199	93346414	-	ENSG00000204352.2	protein_coding	bA165J3.3	9q22.31	chromosome 9 open reading frame 129	-
C9orf131	chr9	35041095	35045991	+	ENSG00000174038.12	protein_coding	-	9p13.3	chromosome 9 open reading frame 131	-
C9orf152	chr9	110190048	110208189	-	ENSG00000188959.9	protein_coding	bA470J20.2	9q31.3	chromosome 9 open reading frame 152	Biased expression in colon (RPKM 16.0), stomach (RPKM 13.2) and 9 other tissues
C9orf153	chr9	86220265	86259657	-	ENSG00000187753.12	protein_coding	bA507D14.1	9q21.33	chromosome 9 open reading frame 153	Restricted expression toward testis (RPKM 6.4)
C9orf163	chr9	136483495	136486067	+	ENSG00000196366.3	lincRNA	-	9q34.3	chromosome 9 putative open reading frame 163	-
C9orf24	chr9	34379019	34397832	-	ENSG00000164972.12	protein_coding	CBE1|NYD-SP22|SMRP1|bA573M23.4	9p13.3	chromosome 9 open reading frame 24	This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
C9orf40	chr9	74946581	74952886	-	ENSG00000135045.6	protein_coding	-	9q21.13	chromosome 9 open reading frame 40	-
C9orf43	chr9	113410054	113429684	+	ENSG00000157653.11	protein_coding	-	9q32	chromosome 9 open reading frame 43	-
C9orf64	chr9	83938311	83956986	-	ENSG00000165118.14	protein_coding	-	9q21.32	chromosome 9 open reading frame 64	-
C9orf72	chr9	27546545	27573866	-	ENSG00000147894.14	protein_coding	ALSFTD|DENND9|DENNL72|FTDALS|FTDALS1	9p21.2	C9orf72-SMCR8 complex subunit	The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5 exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]
C9orf78	chr9	129827290	129835863	-	ENSG00000136819.15	protein_coding	CSU2|HCA59|HSPC220|TLS1|bA409K20.3	9q34.11	chromosome 9 open reading frame 78	Ubiquitous expression in bone marrow (RPKM 42.7), kidney (RPKM 29.7) and 25 other tissues
C9orf92	chr9	16203935	16276313	-	ENSG00000205549.8	protein_coding	Em:AL513424.1	9p22.3	chromosome 9 open reading frame 92	Low expression observed in reference dataset
CA1	chr8	85327608	85379014	-	ENSG00000133742.13	protein_coding	CA-I|CAB|Car1|HEL-S-11	8q21.2	carbonic anhydrase 1	Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This CA1 gene is closely linked to the CA2 and CA3 genes on chromosome 8. It encodes a cytosolic protein that is found at the highest level in erythrocytes. Allelic variants of this gene have been described in some populations. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016]
CA11	chr19	48637942	48646312	-	ENSG00000063180.8	protein_coding	CA-RP|CA-RP II|CA-XI|CARP-2|CARPX1	19q13.33	carbonic anhydrase 11	 Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide.  They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid.  They show extensive diversity in tissue distribution and in their subcellular localization.  CA XI is likely a secreted protein, however, radical changes at active site residues completely conserved in CA isozymes with catalytic activity, make it unlikely that it has carbonic anhydrase activity. It shares properties in common with two other acatalytic CA isoforms, CA VIII and CA X.  CA XI is most abundantly expressed in brain, and may play a general role in the central nervous system. [provided by RefSeq, Jul 2008]
CA12	chr15	63321378	63382161	-	ENSG00000074410.13	protein_coding	CA-XII|CAXII|HsT18816|T18816	15q22.2	carbonic anhydrase 12	Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014]
CA13	chr8	85220587	85284073	+	ENSG00000185015.7	protein_coding	CAXIII	8q21.2	carbonic anhydrase 13	Carbonic anhydrases (CAs) are a family of zinc metalloenzymes. For background information on the CA family, see MIM 114800.[supplied by OMIM, Mar 2008]
CA14	chr1	150257159	150265078	+	ENSG00000118298.10	protein_coding	CAXiV	1q21.2	carbonic anhydrase 14	 Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide.  They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid.  They show extensive diversity in tissue distribution and in their subcellular localization.  CA XIV is predicted to be a type I membrane protein and shares highest sequence similarity with the other transmembrane CA isoform, CA XII; however, they have different patterns of tissue-specific expression and thus may play different physiologic roles. [provided by RefSeq, Jul 2008]
CA15P1	chr22	19031564	19034564	-	ENSG00000241527.1	unitary_pseudogene	-	22q11.21	CA15 pseudogene 1	-
CA2	chr8	85463852	85481493	+	ENSG00000104267.9	protein_coding	CA-II|CAC|CAII|Car2|HEL-76|HEL-S-282	8q21.2	carbonic anhydrase 2	The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
CA3	chr8	85373436	85449040	+	ENSG00000164879.6	protein_coding	CAIII|Car3	8q21.2	carbonic anhydrase 3	Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 kb and contains seven exons and six introns. [provided by RefSeq, Oct 2008]
CA3-AS1	chr8	85441851	85464915	-	ENSG00000253549.5	antisense	-	8q21.2	CA3 antisense RNA 1	-
CA4	chr17	60149936	60170899	+	ENSG00000167434.9	protein_coding	CAIV|Car4|RP17	17q23.1	carbonic anhydrase 4	Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008]
CA5A	chr16	87881546	87936529	-	ENSG00000174990.4	protein_coding	CA5|CA5AD|CAV|CAVA|GS1-21A4.1	16q24.2	carbonic anhydrase 5A	 Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide.  They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid.  They show extensive diversity in tissue distribution and in their subcellular localization.  CA VA is localized in the mitochondria and expressed primarily in the liver.  It may play an important role in ureagenesis and gluconeogenesis.  CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008]
CA6	chr1	8945867	8975092	+	ENSG00000131686.14	protein_coding	CA-VI|GUSTIN	1p36.23	carbonic anhydrase 6	The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. [provided by RefSeq, Jul 2008]
CA7	chr16	66844379	66854153	+	ENSG00000168748.13	protein_coding	CA-VII|CAVII	16q22.1	carbonic anhydrase 7	Carbonic anhydrases are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. The cytosolic protein encoded by this gene is predominantly expressed in the brain and contributes to bicarbonate driven GABAergic neuron excitation. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2018]
CA8	chr8	60187347	60281412	-	ENSG00000178538.9	protein_coding	CA-RP|CA-VIII|CALS|CAMRQ3|CARP	8q12.1	carbonic anhydrase 8	The protein encoded by this gene was initially named CA-related protein because of sequence similarity to other known carbonic anhydrase genes. However, the gene product lacks carbonic anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a carbonic anhydrase designation based on clear sequence identity to other members of the carbonic anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. Mutations in this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis, and overexpression of this gene in osteosarcoma cells suggests an oncogenic role. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
CA9	chr9	35673856	35681159	+	ENSG00000107159.12	protein_coding	CAIX|MN	9p13.3	carbonic anhydrase 9	Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA IX is a transmembrane protein and is one of only two tumor-associated carbonic anhydrase isoenzymes known. It is expressed in all clear-cell renal cell carcinoma, but is not detected in normal kidney or most other normal tissues. It may be involved in cell proliferation and transformation. This gene was mapped to 17q21.2 by fluorescence in situ hybridization, however, radiation hybrid mapping localized it to 9p13-p12. [provided by RefSeq, Jun 2014]
CAAP1	chr9	26840685	26892804	-	ENSG00000120159.11	protein_coding	C9orf82|CAAP	9p21.2	caspase activity and apoptosis inhibitor 1	Ubiquitous expression in thyroid (RPKM 14.1), adrenal (RPKM 11.5) and 25 other tissues
CAB39	chr2	230712845	230821075	+	ENSG00000135932.10	protein_coding	CGI-66|MO25	2q37.1	calcium binding protein 39	Ubiquitous expression in colon (RPKM 18.8), appendix (RPKM 18.4) and 25 other tissues
CAB39L	chr13	49308650	49444126	-	ENSG00000102547.18	protein_coding	MO25-BETA|MO2L|bA103J18.3	13q14.2	calcium binding protein 39 like	Broad expression in prostate (RPKM 17.8), adrenal (RPKM 15.4) and 23 other tissues
CABCOCO1	chr10	 61662929	61766766	+	ENSG00000183346	protein-coding	C10orf107	10q21.2	ciliary associated calcium binding coiled-coil 1	Biased expression in testis (RPKM 3.4), lung (RPKM 1.5) and 7 other tissues
CABIN1	chr22	24011192	24178628	+	ENSG00000099991.17	protein_coding	CAIN|KB-318B8.7|PPP3IN	22q11.23	calcineurin binding protein 1	Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. Alternative splicing results in multiple transcript variants encoding two different isoforms. [provided by RefSeq, Jan 2011]
CABLES1	chr18	23134564	23260467	+	ENSG00000134508.12	protein_coding	CABL1|CABLES|HsT2563|IK3-1	18q11.2	Cdk5 and Abl enzyme substrate 1	This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
CABLES2	chr20	62388632	62407285	-	ENSG00000149679.11	protein_coding	C20orf150|dJ908M14.2|ik3-2	20q13.33	Cdk5 and Abl enzyme substrate 2	Broad expression in testis (RPKM 25.7), heart (RPKM 3.5) and 19 other tissues
CABP1	chr12	120640552	120667324	+	ENSG00000157782.9	protein_coding	CALBRAIN|HCALB_BR	12q24.31	calcium binding protein 1	Calcium binding proteins are an important component of calcium mediated cellular signal transduction. This gene encodes a protein that belongs to a subfamily of calcium binding proteins which share similarity to calmodulin. The protein encoded by this gene regulates the gating of voltage-gated calcium ion channels. This protein inhibits calcium-dependent inactivation and supports calcium-dependent facilitation of ion channels containing voltage-dependent L-type calcium channel subunit alpha-1C. This protein also regulates calcium-dependent activity of inositol 1,4,5-triphosphate receptors, P/Q-type voltage-gated calcium channels, and transient receptor potential channel TRPC5. This gene is predominantly expressed in retina and brain. Alternative splicing results in multiple transcript variants encoding disinct isoforms. [provided by RefSeq, Jul 2012]
CABP4	chr11	67452406	67460313	+	ENSG00000175544.13	protein_coding	CRSD|CSNB2B	11q13.2	calcium binding protein 4	This gene encodes a member of the CABP family of calcium binding protein characterized by four EF-hand motifs. Mutations in this gene are associated with congenital stationary night blindness type 2B. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
CABP7	chr22	29720084	29731839	+	ENSG00000100314.3	protein_coding	CALN2	22q12.2	calcium binding protein 7	Ubiquitous expression in adrenal (RPKM 1.8), brain (RPKM 1.7) and 25 other tissues
CABYR	chr18	24138956	24161603	+	ENSG00000154040.20	protein_coding	CABYRa|CABYRc|CABYRc/d|CABYRe|CBP86|CT88|FSP-2|FSP2	18q11.2	calcium binding tyrosine phosphorylation regulated	To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece of the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
CACFD1	chr9	133459965	133470848	+	ENSG00000160325.14	protein_coding	C9orf7|D9S2135|FLOWER	9q34.2	calcium channel flower domain containing 1	Broad expression in stomach (RPKM 8.2), colon (RPKM 7.0) and 25 other tissues
CACHD1	chr1	64470792	64693058	+	ENSG00000158966.13	protein_coding	-	1p31.3	cache domain containing 1	-
CACNA1A	chr19	13206442	13633025	-	ENSG00000141837.19	protein_coding	APCA|BI|CACNL1A4|CAV2.1|DEE42|EA2|EIEE42|FHM|HPCA|MHP|MHP1|SCA6	19p13.13	calcium voltage-gated channel subunit alpha1 A	Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3 UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]
CACNA1B	chr9	137877789	138124624	+	ENSG00000148408.12	protein_coding	BIII|CACNL1A5|CACNN|Cav2.2|DYT23|NEDNEH	9q34.3	calcium voltage-gated channel subunit alpha1 B	The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
CACNA1C	chr12	1970786	2697950	+	ENSG00000151067.21	protein_coding	CACH2|CACN2|CACNL1A1|CCHL1A1|CaV1.2|LQT8|TS|TS. LQT8	12p13.33	calcium voltage-gated channel subunit alpha1 C	This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]
CACNA1C-IT2	chr12	2048352	2049463	+	ENSG00000256257.1	sense_intronic	-	12p13.33	CACNA1C intronic transcript 2	-
CACNA1C-IT3	chr12	2269776	2288937	+	ENSG00000256721.1	sense_intronic	-	12p13.33	CACNA1C intronic transcript 3	-
CACNA1D	chr3	53328963	53813733	+	ENSG00000157388.15	protein_coding	CACH3|CACN4|CACNL1A2|CCHL1A2|Cav1.3|PASNA|SANDD	3p21.1	calcium voltage-gated channel subunit alpha1 D	Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, namely alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1D subunit. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
CACNA1E	chr1	181413102	181808084	+	ENSG00000198216.10	protein_coding	BII|CACH6|CACNL1A6|Cav2.3|DEE69|EIEE69|gm139	1q25.3	calcium voltage-gated channel subunit alpha1 E	Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the high-voltage activated group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]
CACNA1G	chr17	50561068	50627474	+	ENSG00000006283.17	protein_coding	Ca(V)T.1|Cav3.1|NBR13|SCA42|SCA42ND	17q21.33	calcium voltage-gated channel subunit alpha1 G	Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011]
CACNA1G-AS1	chr17	50556207	50562108	-	ENSG00000250107.1	antisense	CAS1	17q21.33	CACNA1G antisense RNA 1	Low expression observed in reference dataset
CACNA1H	chr16	1153121	1221772	+	ENSG00000196557.12	protein_coding	CACNA1HB|Cav3.2|ECA6|EIG6|HALD4	16p13.3	calcium voltage-gated channel subunit alpha1 H	This gene encodes a T-type member of the alpha-1 subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants, encoding different isoforms, have been characterized for the gene described here. Studies suggest certain mutations in this gene lead to childhood absence epilepsy (CAE). [provided by RefSeq, Jul 2008]
CACNA1I	chr22	39570753	39689737	+	ENSG00000100346.17	protein_coding	Cav3.3|ca(v)3.3	22q13.1	calcium voltage-gated channel subunit alpha1 I	This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
CACNA1S	chr1	201039512	201112566	-	ENSG00000081248.10	protein_coding	CACNL1A3|CCHL1A3|Cav1.1|HOKPP|HOKPP1|MHS5|TTPP1|hypoPP	1q32.1	calcium voltage-gated channel subunit alpha1 S	This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]
CACNA2D2	chr3	50362799	50504244	-	ENSG00000007402.11	protein_coding	CACNA2D|CASVDD	3p21.31	calcium voltage-gated channel auxiliary subunit alpha2delta 2	Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization. This gene encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex. The complex consists of the main channel-forming subunit alpha-1, and auxiliary subunits alpha-2/delta, beta, and gamma. The auxiliary subunits function in the assembly and membrane localization of the complex, and modulate calcium currents and channel activation/inactivation kinetics. The subunit encoded by this gene undergoes post-translational cleavage to yield the extracellular alpha2 peptide and a membrane-anchored delta polypeptide. This subunit is a receptor for the antiepileptic drug, gabapentin. Mutations in this gene are associated with early infantile epileptic encephalopathy. Single nucleotide polymorphisms in this gene are correlated with increased sensitivity to opioid drugs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
CACNA2D3	chr3	54122547	55074557	+	ENSG00000157445.14	protein_coding	HSA272268	3p21.1-p14.3	calcium voltage-gated channel auxiliary subunit alpha2delta 3	This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
CACNA2D4	chr12	1791957	1918836	-	ENSG00000151062.14	protein_coding	RCD4	12p13.33	calcium voltage-gated channel auxiliary subunit alpha2delta 4	This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
CACNB1	chr17	39173456	39197703	-	ENSG00000067191.15	protein_coding	CAB1|CACNLB1|CCHLB1	17q12	calcium voltage-gated channel auxiliary subunit beta 1	The protein encoded by this gene belongs to the calcium channel beta subunit family. It plays an important role in the calcium channel by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
CACNB2	chr10	18140677	18541869	+	ENSG00000165995.18	protein_coding	CAB2|CACNLB2|CAVB2|MYSB	10p12.33-p12.31	calcium voltage-gated channel auxiliary subunit beta 2	This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]
CACNB3	chr12	48813794	48828941	+	ENSG00000167535.7	protein_coding	CAB3|CACNLB3	12q13.12	calcium voltage-gated channel auxiliary subunit beta 3	This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011]
CACNB4	chr2	151832768	152099475	-	ENSG00000182389.19	protein_coding	CAB4|CACNLB4|EA5|EIG9|EJM|EJM4|EJM6	2q23.3	calcium voltage-gated channel auxiliary subunit beta 4	This gene encodes a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016]
CACNG1	chr17	67044590	67056797	+	ENSG00000108878.4	protein_coding	CACNLG	17q24.2	calcium voltage-gated channel auxiliary subunit gamma 1	Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is part of skeletal muscle 1,4-dihydropyridine-sensitive calcium channels and is an integral membrane protein that plays a role in excitation-contraction coupling. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). [provided by RefSeq, Dec 2010]
CACNG3	chr16	24255553	24362801	+	ENSG00000006116.3	protein_coding	-	16p12.1	calcium voltage-gated channel auxiliary subunit gamma 3	Restricted expression toward brain (RPKM 19.9)
CACTIN	chr19	3610641	3626815	-	ENSG00000105298.13	protein_coding	C19orf29|NY-REN-24|fSAPc	19p13.3	cactin, spliceosome C complex subunit	Ubiquitous expression in spleen (RPKM 5.5), testis (RPKM 4.7) and 25 other tissues
CACTIN-AS1	chr19	3607247	3613930	+	ENSG00000226800.5	antisense	C19orf29-AS1|C19orf29OS	19p13.3	CACTIN antisense RNA 1	Ubiquitous expression in spleen (RPKM 5.4), testis (RPKM 4.3) and 25 other tissues
CACUL1	chr10	118674167	118755249	-	ENSG00000151893.14	protein_coding	C10orf46|CAC1	10q26.11	CDK2 associated cullin domain 1	Ubiquitous expression in testis (RPKM 11.0), bone marrow (RPKM 9.1) and 25 other tissues
CAD	chr2	27217390	27243943	+	ENSG00000084774.13	protein_coding	CDG1Z|DEE50|EIEE50|GATD4	2p23.3	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
CADM1	chr11	115169218	115504957	-	ENSG00000182985.17	protein_coding	BL2|IGSF4|IGSF4A|NECL2|Necl-2|RA175|ST17|SYNCAM|TSLC1|sTSLC-1|sgIGSF|synCAM1	11q23.3	cell adhesion molecule 1	Broad expression in lung (RPKM 23.7), thyroid (RPKM 19.5) and 23 other tissues
CADM2	chr3	84958981	86074429	+	ENSG00000175161.13	protein_coding	IGSF4D|NECL3|Necl-3|SynCAM 2|synCAM2	3p12.1	cell adhesion molecule 2	This gene encodes a member of the synaptic cell adhesion molecule 1 (SynCAM) family which belongs to the immunoglobulin (Ig) superfamily. The encoded protein has three Ig-like domains and a cytosolic protein 4.1 binding site near the C-terminus. Proteins belonging to the protein 4.1 family crosslink spectrin and interact with other cytoskeletal proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
CADM2-AS1	chr3	85992183	86028007	-	ENSG00000239519.1	antisense	-	3p12.1	CADM2 antisense RNA 1	-
CADM3	chr1	159171609	159203313	+	ENSG00000162706.12	protein_coding	BIgR|CMT2FF|IGSF4B|NECL1|Necl-1|TSLL1|synCAM3	1q23.2	cell adhesion molecule 3	The protein encoded by this gene is a calcium-independent cell-cell adhesion protein that can form homodimers or heterodimers with other nectin proteins. The encoded protein has both homophilic and heterophilic cell-cell adhesion activity. This gene is reported to be a tumor suppressor gene. [provided by RefSeq, Oct 2016]
CADM3-AS1	chr1	159194325	159207973	-	ENSG00000225670.4	antisense	-	1q23.2	CADM3 antisense RNA 1	-
CADM4	chr19	43622368	43639839	-	ENSG00000105767.2	protein_coding	IGSF4C|NECL4|Necl-4|TSLL2|synCAM4	19q13.31	cell adhesion molecule 4	Biased expression in brain (RPKM 59.7), kidney (RPKM 14.7) and 8 other tissues
CADPS	chr3	62398346	62875389	-	ENSG00000163618.17	protein_coding	CADPS1|CAPS|CAPS1|UNC-31	3p14.2	calcium dependent secretion activator	This gene encodes a novel neural/endocrine-specific cytosolic and peripheral membrane protein required for the Ca2+-regulated exocytosis of secretory vesicles. The protein acts at a stage in exocytosis that follows ATP-dependent priming, which involves the essential synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2). Alternative splicing has been observed at this locus and three variants, encoding distinct isoforms, are described. [provided by RefSeq, Aug 2008]
CADPS2	chr7	122318425	122886759	-	ENSG00000081803.15	protein_coding	CAPS2	7q31.32	calcium dependent secretion activator 2	This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and neuroendocrine cells. Mutations in this gene may contribute to autism susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]
CAHM	chr6	163413065	163413960	-	ENSG00000270419.1	lincRNA	LINC00468	6q26	colon adenocarcinoma hypermethylated	-
CALB1	chr8	90058608	90095475	-	ENSG00000104327.7	protein_coding	CALB|D-28K	8q21.3	calbindin 1	The protein encoded by this gene is a member of the calcium-binding protein superfamily that includes calmodulin and troponin C. Originally described as a 27 kDa protein, it is now known to be a 28 kDa protein. It contains four active calcium-binding domains, and has two modified domains that are thought to have lost their calcium binding capability. This protein is thought to buffer entry of calcium upon stimulation of glutamate receptors. Depletion of this protein was noted in patients with Huntington disease. [provided by RefSeq, Jan 2015]
CALB2	chr16	71358713	71390438	+	ENSG00000172137.18	protein_coding	CAB29|CAL2|CR	16q22.2	calbindin 2	This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targeting and intracellular calcium buffering. It also functions as a modulator of neuronal excitability, and is a diagnostic marker for some human diseases, including Hirschsprung disease and some cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
CALCB	chr11	14904997	15082342	+	ENSG00000175868.13	protein_coding	CALC2|CGRP-II|CGRP2	11p15.2	calcitonin related polypeptide beta	Restricted expression toward thyroid (RPKM 12.3)
CALCOCO1	chr12	53708517	53727745	-	ENSG00000012822.15	protein_coding	Cocoa|PP13275|calphoglin	12q13.13	calcium binding and coiled-coil domain 1	Ubiquitous expression in skin (RPKM 52.1), lung (RPKM 44.3) and 25 other tissues
CALCOCO2	chr17	48830988	48866522	+	ENSG00000136436.14	protein_coding	NDP52	17q21.32	calcium binding and coiled-coil domain 2	This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a receptor for ubiquitin-coated bacteria and plays an important role in innate immunity by mediating macroautophagy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
CALCR	chr7	93424487	93574730	-	ENSG00000004948.13	protein_coding	CRT|CT-R|CTR|CTR1	7q21.3	calcitonin receptor	This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
CALCRL	chr2	187343129	187448460	-	ENSG00000064989.12	protein_coding	CGRPR|CRLR|LMPHM8	2q32.1	calcitonin receptor like receptor	Broad expression in lung (RPKM 41.7), fat (RPKM 35.2) and 20 other tissues
CALD1	chr7	134744252	134970728	+	ENSG00000122786.19	protein_coding	CDM|H-CAD|HCAD|L-CAD|LCAD|NAG22	7q33	caldesmon 1	This gene encodes a calmodulin- and actin-binding protein that plays an essential role in the regulation of smooth muscle and nonmuscle contraction. The conserved domain of this protein possesses the binding activities to Ca(2+)-calmodulin, actin, tropomyosin, myosin, and phospholipids. This protein is a potent inhibitor of the actin-tropomyosin activated myosin MgATPase, and serves as a mediating factor for Ca(2+)-dependent inhibition of smooth muscle contraction. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
CALHM1	chr10	103453387	103458888	-	ENSG00000185933.6	protein_coding	FAM26C	10q24.33	calcium homeostasis modulator 1	This gene encodes a calcium channel that plays a role in processing of amyloid-beta precursor protein. A polymorphism at this locus has been reported to be associated with susceptibility to late-onset Alzheimers disease in some populations, but the pathogenicity of this polymorphism is unclear.[provided by RefSeq, Mar 2010]
CALHM2	chr10	103446786	103452402	-	ENSG00000138172.10	protein_coding	FAM26B	10q24.33	calcium homeostasis modulator family member 2	Ubiquitous expression in ovary (RPKM 19.8), endometrium (RPKM 13.4) and 22 other tissues
CALHM4	chr6	 116529043	116561127	+	ENSG00000164451	protein-coding	C6orf78|FAM26D	6q22.1	calcium homeostasis modulator family member 4	Restricted expression toward placenta (RPKM 4.4)
CALHM5	chr6	 116511639	116524788	+	ENSG00000178033	protein-coding	C6orf188|FAM26E|dJ493F7.3	6q22.1	calcium homeostasis modulator family member 5	Broad expression in placenta (RPKM 2.8), fat (RPKM 2.2) and 21 other tissues
CALHM6	chr6	 116461375	116463771	+	ENSG00000188820	protein-coding	C6orf187|FAM26F|INAM|dJ93H18.5	6q22.1	calcium homeostasis modulator family member 6	Biased expression in spleen (RPKM 28.1), appendix (RPKM 12.4) and 12 other tissues
CALM2	chr2	47160082	47176601	-	ENSG00000143933.16	protein_coding	CALM|CALML2|CAM1|CAM3|CAMC|CAMII|CAMIII|LQT15|PHKD|PHKD2|caM	2p21	calmodulin 2	This gene is a member of the calmodulin gene family. There are three distinct calmodulin genes dispersed throughout the genome that encode the identical protein, but differ at the nucleotide level. Calmodulin is a calcium binding protein that plays a role in signaling pathways, cell cycle progression and proliferation. Several infants with severe forms of long-QT syndrome (LQTS) who displayed life-threatening ventricular arrhythmias together with delayed neurodevelopment and epilepsy were found to have mutations in either this gene or another member of the calmodulin gene family (PMID:23388215). Mutations in this gene have also been identified in patients with less severe forms of LQTS (PMID:24917665), while mutations in another calmodulin gene family member have been associated with catecholaminergic polymorphic ventricular tachycardia (CPVT)(PMID:23040497), a rare disorder thought to be the cause of a significant fraction of sudden cardiac deaths in young individuals. Pseudogenes of this gene are found on chromosomes 10, 13, and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
CALM3	chr19	46601074	46610793	+	ENSG00000160014.16	protein_coding	CALM|CAM1|CAM2|CAMB|CPVT6|CaM|CaMIII|HEL-S-72|LQT16|PHKD|PHKD3	19q13.32	calmodulin 3	This gene encodes a member of a family of proteins that binds calcium and functions as a enzymatic co-factor. Activity of this protein is important in the regulation of the cell cycle and cytokinesis. Multiple alternatively spliced transcript variants have been observed at this gene. [provided by RefSeq, Aug 2016]
CALML4	chr15	68190705	68206110	-	ENSG00000129007.14	protein_coding	NY-BR-20	15q23	calmodulin like 4	Broad expression in colon (RPKM 15.5), duodenum (RPKM 14.7) and 25 other tissues
CALML6	chr1	1914827	1917296	+	ENSG00000169885.9	protein_coding	CAGLP	1p36.33	calmodulin like 6	Low expression observed in reference dataset
CALN1	chr7	71779491	72447151	-	ENSG00000183166.10	protein_coding	CABP8	7q11.22	calneuron 1	This gene encodes a protein with high similarity to the calcium-binding proteins of the calmodulin family. The encoded protein contains two EF-hand domains and potential calcium-binding sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
CALR	chr19	12938578	12944489	+	ENSG00000179218.13	protein_coding	CRT|HEL-S-99n|RO|SSA|cC1qR	19p13.13	calreticulin	Calreticulin is a highly conserved chaperone protein which resides primarily in the endoplasmic reticulum, and is involved in a variety of cellular processes, among them, cell adhesion. Additionally, it functions in protein folding quality control and calcium homeostasis. Calreticulin is also found in the nucleus, suggesting that it may have a role in transcription regulation. Systemic lupus erythematosus is associated with increased autoantibody titers against calreticulin. Recurrent mutations in calreticulin have been linked to various neoplasms, including the myeloproliferative type.[provided by RefSeq, May 2020]
CALR3	chr19	16479057	16496192	-	ENSG00000269058.5	protein_coding	CMH19|CRT2|CT93	19p13.11	calreticulin 3	The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity for calcium-binding may be absent or much lower than other family members. This gene is specifically expressed in the testis, and may be required for sperm fertility. Mutation in this gene has been associated with familial hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011]
CALR4P	chr1	51561866	51594897	-	ENSG00000227742.1	unitary_pseudogene	-	1p32.3	calreticulin 4, pseudogene	-
CALU	chr7	128739292	128771807	+	ENSG00000128595.16	protein_coding	-	7q32.1	calumenin	Ubiquitous expression in heart (RPKM 44.6), placenta (RPKM 44.1) and 25 other tissues
CALY	chr10	133324072	133336935	-	ENSG00000130643.8	protein_coding	DRD1IP|NSG3	10q26.3	calcyon neuron specific vesicular protein	The protein encoded by this gene is a type II single transmembrane protein. It is required for maximal stimulated calcium release after stimulation of purinergic or muscarinic but not beta-adrenergic receptors. The encoded protein interacts with D1 dopamine receptor and may interact with other DA receptor subtypes and/or GPCRs. [provided by RefSeq, Jul 2008]
CAMK1D	chr10	12349482	12835545	+	ENSG00000183049.12	protein_coding	CKLiK|CaM-K1|CaMKID	10p13	calcium/calmodulin dependent protein kinase ID	This gene is a member of the calcium/calmodulin-dependent protein kinase 1 family, a subfamily of the serine/threonine kinases. The encoded protein is a component of the calcium-regulated calmodulin-dependent protein kinase cascade. It has been associated with multiple processes including regulation of granulocyte function, activation of CREB-dependent gene transcription, aldosterone synthesis, differentiation and activation of neutrophil cells, and apoptosis of erythroleukemia cells. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jan 2015]
CAMK2A	chr5	150219491	150290291	-	ENSG00000070808.15	protein_coding	CAMKA|CaMKIINalpha|CaMKIIalpha|MRD53|MRT63	5q32	calcium/calmodulin dependent protein kinase II alpha	The product of this gene belongs to the serine/threonine protein kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2018]
CAMK2B	chr7	44217150	44334577	-	ENSG00000058404.19	protein_coding	CAM2|CAMK2|CAMKB|CaMKIIbeta|MRD54	7p13	calcium/calmodulin dependent protein kinase II beta	The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
CAMK2D	chr4	113451032	113761927	-	ENSG00000145349.16	protein_coding	CAMKD	4q26	calcium/calmodulin dependent protein kinase II delta	The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a delta chain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Distinct isoforms of this chain have different expression patterns.[provided by RefSeq, Nov 2008]
CAMK2G	chr10	73812501	73874591	-	ENSG00000148660.20	protein_coding	CAMK|CAMK-II|CAMKG|MRD59	10q22.2	calcium/calmodulin dependent protein kinase II gamma	The product of this gene is one of the four subunits of an enzyme which belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a gamma chain. Many alternatively spliced transcripts encoding different isoforms have been described but the full-length nature of all the variants has not been determined.[provided by RefSeq, Mar 2011]
CAMK2N1	chr1	20482391	20486220	-	ENSG00000162545.5	protein_coding	PRO1489	1p36.12	calcium/calmodulin dependent protein kinase II inhibitor 1	Broad expression in brain (RPKM 113.3), colon (RPKM 48.8) and 15 other tissues
CAMK2N2	chr3	184259213	184261463	-	ENSG00000163888.3	protein_coding	CAM-KIIN|CAMKIIN	3q27.1	calcium/calmodulin dependent protein kinase II inhibitor 2	This gene encodes a protein that is highly similar to the rat CaM-KII inhibitory protein, an inhibitor of calcium/calmodulin-dependent protein kinase II (CAMKII). CAMKII regulates numerous physiological functions, including neuronal synaptic plasticity through the phosphorylation of alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid-type glutamate (AMPA) receptors. Studies of the similar protein in rat suggest that this protein may function as a negative regulator of CaM-KII and may act to inhibit the phosphorylation of AMPA receptors. [provided by RefSeq, Jul 2008]
CAMK4	chr5	111223653	111494886	+	ENSG00000152495.10	protein_coding	CaMK IV|CaMK-GR|CaMKIV|caMK	5q22.1	calcium/calmodulin dependent protein kinase IV	The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional regulation in lymphocytes, neurons and male germ cells. [provided by RefSeq, Jul 2008]
CAMKK1	chr17	3860315	3894891	-	ENSG00000004660.14	protein_coding	CAMKKA	17p13.2	calcium/calmodulin dependent protein kinase kinase 1	The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
CAMKK2	chr12	121237691	121298308	-	ENSG00000110931.18	protein_coding	CAMKK|CAMKKB	12q24.31	calcium/calmodulin dependent protein kinase kinase 2	The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. The major isoform of this gene plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade by phosphorylating the downstream kinases CaMK1 and CaMK4. Protein products of this gene also phosphorylate AMP-activated protein kinase (AMPK). This gene has its strongest expression in the brain and influences signalling cascades involved with learning and memory, neuronal differentiation and migration, neurite outgrowth, and synapse formation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. The identified isoforms differ in their ability to undergo autophosphorylation and to phosphorylate downstream kinases. [provided by RefSeq, Jul 2012]
CAMKMT	chr2	44361950	44772592	+	ENSG00000143919.14	protein_coding	C2orf34|CLNMT|CaM KMT|Cam|KMT	2p21	calmodulin-lysine N-methyltransferase	This gene encodes a class I protein methyltransferase that acts in the formation of trimethyllysine in calmodulin. The protein contains a AdoMet-binding motif and may play a role in calcium-dependent signaling. [provided by RefSeq, Sep 2012]
CAMKV	chr3	49857988	49870222	-	ENSG00000164076.16	protein_coding	1G5|VACAMKL	3p21.31	CaM kinase like vesicle associated	Restricted expression toward brain (RPKM 33.0)
CAMLG	chr5	134738501	134752160	+	ENSG00000164615.4	protein_coding	CAML|GET2	5q31.1	calcium modulating ligand	The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. The protein encoded by this gene functions similarly to cyclosporin A, binding to cyclophilin B and acting downstream of the TCR and upstream of calcineurin by causing an influx of calcium. This integral membrane protein appears to be a new participant in the calcium signal transduction pathway, implicating cyclophilin B in calcium signaling, even in the absence of cyclosporin. [provided by RefSeq, Jul 2008]
CAMP	chr3	48223347	48225491	+	ENSG00000164047.4	protein_coding	CAP-18|CAP18|CRAMP|FALL-39|FALL39|HSD26|LL37	3p21.31	cathelicidin antimicrobial peptide	This gene encodes a member of an antimicrobial peptide family, characterized by a highly conserved N-terminal signal peptide containing a cathelin domain and a structurally variable cationic antimicrobial peptide, which is produced by extracellular proteolysis from the C-terminus. The protein plays an important role in innate immunity defense against viruses. In addition to its antibacterial, antifungal, and antiviral activities, the encoded protein functions in cell chemotaxis, immune mediator induction, and inflammatory response regulation. [provided by RefSeq, Sep 2021]
CAMSAP1	chr9	135808487	135907228	-	ENSG00000130559.18	protein_coding	-	9q34.3	calmodulin regulated spectrin associated protein 1	-
CAMSAP2	chr1	200739558	200860704	+	ENSG00000118200.14	protein_coding	CAMSAP1L1	1q32.1	calmodulin regulated spectrin associated protein family member 2	Ubiquitous expression in brain (RPKM 24.6), thyroid (RPKM 11.0) and 23 other tissues
CAMSAP3	chr19	7595902	7618304	+	ENSG00000076826.9	protein_coding	KIAA1543|NEZHA|PPP1R80	19p13.2	calmodulin regulated spectrin associated protein family member 3	Broad expression in skin (RPKM 9.2), duodenum (RPKM 7.0) and 18 other tissues
CAMTA1	chr1	6785324	7769706	+	ENSG00000171735.18	protein_coding	CANPMR	1p36.31-p36.23	calmodulin binding transcription activator 1	The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017]
CAMTA2	chr17	4967992	4987652	-	ENSG00000108509.20	protein_coding	-	17p13.2	calmodulin binding transcription activator 2	Ubiquitous expression in brain (RPKM 16.2), testis (RPKM 10.6) and 25 other tissues
CAND1	chr12	67269281	67319951	+	ENSG00000111530.12	protein_coding	TIP120|TIP120A	12q14.3-q15	cullin associated and neddylation dissociated 1	This gene encodes an essential regulator of Cullin-RING ubiquitin ligases, which are in involved in ubiquitinylation of proteins degraded by the Ub proteasome system. The encoded protein binds to unneddylated cullin-RING box protein complexes and acts as an inhibitor of cullin neddylation and of Skp1, cullin, and F box ubiquitin ligase complex assembly and activity. In mammalian cell culture, this protein predominantly localizes to the cytoplasm. Knockdown of this gene in preadipocytes results in blocked adipogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
CAND2	chr3	12796472	12871916	+	ENSG00000144712.11	protein_coding	TIP120B|Tp120b	3p25.2	cullin associated and neddylation dissociated 2 (putative)	Broad expression in heart (RPKM 9.1), testis (RPKM 8.9) and 16 other tissues
CANT1	chr17	78991717	79009867	-	ENSG00000171302.16	protein_coding	DBQD|DBQD1|EDM7|SCAN-1|SCAN1|SHAPY	17q25.3	calcium activated nucleotidase 1	This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies. Alternatively spliced transcript variants have been noted for this gene.[provided by RefSeq, Mar 2010]
CANX	chr5	179678628	179730925	+	ENSG00000127022.14	protein_coding	CNX|IP90|P90	5q35.3	calnexin	This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2018]
CAP1	chr1	40040233	40072649	+	ENSG00000131236.16	protein_coding	CAP|CAP1-PEN	1p34.2	cyclase associated actin cytoskeleton regulatory protein 1	The protein encoded by this gene is related to the S. cerevisiae CAP protein, which is involved in the cyclic AMP pathway. The human protein is able to interact with other molecules of the same protein, as well as with CAP2 and actin. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2016]
CAP1P2	chr10	43604843	43606251	-	ENSG00000232004.1	processed_pseudogene	-	10q11.21	CAP1 pseudogene 2	-
CAP2P1	chr14	89290205	89291594	-	ENSG00000259151.2	transcribed_processed_pseudogene	-	14q31.3	cyclase associated actin cytoskeleton regulatory protein 2 pseudogene 1	-
CAPG	chr2	85394748	85418432	-	ENSG00000042493.15	protein_coding	AFCP|HEL-S-66|MCP	2p11.2	capping actin protein, gelsolin like	This gene encodes a member of the gelsolin/villin family of actin-regulatory proteins. The encoded protein reversibly blocks the barbed ends of F-actin filaments in a Ca2+ and phosphoinositide-regulated manner, but does not sever preformed actin filaments. By capping the barbed ends of actin filaments, the encoded protein contributes to the control of actin-based motility in non-muscle cells. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2012]
CAPN1	chr11	65180566	65212006	+	ENSG00000014216.15	protein_coding	CANP|CANP1|CANPL1|SPG76|muCANP|muCL	11q13.1	calpain 1	The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
CAPN10	chr2	240586716	240617705	+	ENSG00000142330.19	protein_coding	CANP10|NIDDM1	2q37.3	calpain 10	Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010]
CAPN11	chr6	44158811	44184402	+	ENSG00000137225.12	protein_coding	calpain11	6p21.1	calpain 11	Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subunit. This calpain protein appears to have protease activity and calcium-binding ability. A similar mouse protein may play a functional role in spermatogenesis and in the regulation of calcium-dependent signal transduction events during meiosis. [provided by RefSeq, Dec 2008]
CAPN12	chr19	38730187	38769904	-	ENSG00000182472.8	protein_coding	-	19q13.2	calpain 12	Ubiquitous expression in gall bladder (RPKM 14.2), spleen (RPKM 9.8) and 25 other tissues
CAPN13	chr2	30722771	30820542	-	ENSG00000162949.16	protein_coding	-	2p23.1	calpain 13	Biased expression in small intestine (RPKM 8.2), duodenum (RPKM 5.3) and 6 other tissues
CAPN14	chr2	31173056	31233858	-	ENSG00000214711.9	protein_coding	-	2p23.1	calpain 14	Restricted expression toward esophagus (RPKM 73.0)
CAPN15	chr16	527717	554636	+	ENSG00000103326.11	protein_coding	OGIN|SOLH	16p13.3	calpain 15	This gene encodes a protein containing zinc-finger-like repeats and a calpain-like protease domain. The encoded protein may function as a transcription factor, RNA-binding protein, or in protein-protein interactions during visual system development. [provided by RefSeq, Jul 2008]
CAPN2	chr1	223701593	223776018	+	ENSG00000162909.17	protein_coding	CANP2|CANPL2|CANPml|mCANP	1q41	calpain 2	The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple heterogeneous transcriptional start sites in the 5 UTR have been reported. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
CAPN3	chr15	42359500	42412318	+	ENSG00000092529.23	protein_coding	CANP3|CANPL3|LGMD2|LGMD2A|LGMDD4|LGMDR1|nCL-1|p94	15q15.1	calpain 3	Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. [provided by RefSeq, Jul 2008]
CAPN5	chr11	77066932	77126155	+	ENSG00000149260.15	protein_coding	ADNIV|HTRA3|VRNI|nCL-3	11q13.5	calpain 5	Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a family of large subunits. CAPN5 is one of the large subunits. Unlike some of the calpains, CAPN5 and CAPN6 lack a calmodulin-like domain IV. Because of the significant similarity to Caenorhabditis elegans sex determination gene tra-3, CAPN5 is also called as HTRA3. [provided by RefSeq, Jul 2008]
CAPN7	chr3	15206152	15252918	+	ENSG00000131375.9	protein_coding	CALPAIN7|PALBH	3p25.1	calpain 7	Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The function of the protein encoded by this gene is not known. An orthologue has been found in mouse but it seems to diverge from other family members. The mouse orthologue is thought to be calcium independent with protease activity. [provided by RefSeq, Jul 2008]
CAPN8	chr1	223538007	223665734	-	ENSG00000203697.11	protein_coding	nCL-2	1q41	calpain 8	Note: This gene aligns across a gap in the GRCh38 reference genome assembly, and therefore, the 5 end of this gene was annotated on NT_167186.2 and the 3 end was annotated on NT_004487.20 in NCBIs Homo sapiens Annotation Release 106. [17 Jun 2014]
CAPN9	chr1	230747384	230802003	+	ENSG00000135773.12	protein_coding	GC36|nCL-4	1q42.2	calpain 9	Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is expressed predominantly in stomach and small intestine and may have specialized functions in the digestive tract. This gene is thought to be associated with gastric cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
CAPNS1	chr19	36139575	36150353	+	ENSG00000126247.10	protein_coding	CALPAIN4|CANP|CANPS|CAPN4|CDPS|CSS1	19q13.12	calpain small subunit 1	This gene is a member of the calpain small subunit family. Calpains are calcium-dependent cysteine proteinases that are widely distributed in mammalian cells. Calpains operate as heterodimers, comprising a specific large catalytic subunit (calpain 1 subunit in Calpain I, and calpain 2 subunit in Calpain II), and a common small regulatory subunit encoded by this gene. This encoded protein is essential for the stability and function of both calpain heterodimers, whose proteolytic activities influence various cellular functions including apoptosis, proliferation, migration, adhesion, and autophagy. Calpains have been implicated in neurodegenerative processes, such as myotonic dystrophy. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
CAPNS1P1	chr1	89394033	89394665	+	ENSG00000215874.3	processed_pseudogene	-	1p22.2	calpain small subunit 1 pseudogene 1	-
CAPNS2	chr16	55566672	55567687	+	ENSG00000256812.1	protein_coding	CSS2	16q12.2	calpain small subunit 2	-
CAPRIN1	chr11	34051683	34101156	+	ENSG00000135387.20	protein_coding	GPIAP1|GPIP137|GRIP137|M11S1|RNG105|p137GPI	11p13	cell cycle associated protein 1	Ubiquitous expression in testis (RPKM 43.8), brain (RPKM 23.0) and 25 other tissues
CAPRIN2	chr12	30709552	30754951	-	ENSG00000110888.17	protein_coding	C1QDC1|EEG-1|EEG1|RNG140	12p11.21	caprin family member 2	The protein encoded by this gene may regulate the transport of mRNA. It may play a role in the differentiation of erythroblasts. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
CAPS	chr19	5911707	5915877	+	ENSG00000105519.15	protein_coding	CAPS1	19p13.3	calcyphosine	This gene encodes a calcium-binding protein, which may play a role in the regulation of ion transport. A similar protein was first described as a potentially important regulatory protein in the dog thyroid and was termed as R2D5 antigen in rabbit. Alternative splicing of this gene generates two transcript variants. [provided by RefSeq, Jul 2008]
CAPSL	chr5	35904295	35938779	-	ENSG00000152611.11	protein_coding	-	5p13.2	calcyphosine like	-
CAPZA1	chr1	112619173	112671619	+	ENSG00000116489.12	protein_coding	CAPPA1|CAPZ|CAZ1	1p13.2	capping actin protein of muscle Z-line subunit alpha 1	CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the barbed-end actin binding protein.  The protein regulates growth of the actin filament by capping the barbed end of growing actin filaments. [provided by RefSeq, Jul 2008]
CAPZA2	chr7	116811070	116922049	+	ENSG00000198898.13	protein_coding	CAPPA2|CAPZ	7q31.2	capping actin protein of muscle Z-line subunit alpha 2	The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. [provided by RefSeq, Jul 2008]
CAPZB	chr1	19338776	19485539	-	ENSG00000077549.17	protein_coding	CAPB|CAPPB|CAPZ	1p36.13	capping actin protein of muscle Z-line subunit beta	This gene encodes the beta subunit of the barbed-end actin binding protein, which belongs to the F-actin capping protein family. The capping protein is a heterodimeric actin capping protein that blocks actin filament assembly and disassembly at the fast growing (barbed) filament ends and functions in regulating actin filament dynamics as well as in stabilizing actin filament lengths in muscle and nonmuscle cells. A pseudogene of this gene is located on the long arm of chromosome 2. Multiple alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, Aug 2013]
CARD10	chr22	37490362	37519542	-	ENSG00000100065.14	protein_coding	BIMP1|CARMA3	22q13.1	caspase recruitment domain family member 10	The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10 belongs to the membrane-associated guanylate kinase (MAGUK) family and activates NF-kappa-B (NFKB; see MIM 164011) through BCL10 (MIM 603517) (Wang et al., 2001 [PubMed 11259443]).[supplied by OMIM, Mar 2008]
CARD11	chr7	2906141	3043945	-	ENSG00000198286.9	protein_coding	BENTA|BIMP3|CARMA1|IMD11|IMD11A|PPBL	7p22.2	caspase recruitment domain family member 11	The protein encoded by this gene belongs to the membrane-associated guanylate kinase (MAGUK) family, a class of proteins that functions as molecular scaffolds for the assembly of multiprotein complexes at specialized regions of the plasma membrane. This protein is also a member of the CARD protein family, which is defined by carrying a characteristic caspase-associated recruitment domain (CARD). This protein has a domain structure similar to that of CARD14 protein. The CARD domains of both proteins have been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. When expressed in cells, this protein activated NF-kappaB and induced the phosphorylation of BCL10. [provided by RefSeq, Jul 2008]
CARD14	chr17	80169992	80209331	+	ENSG00000141527.16	protein_coding	BIMP2|CARMA2|PRP|PSORS2|PSS1	17q25.3	caspase recruitment domain family member 14	This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
CARD16	chr11	105041326	105101431	-	ENSG00000204397.7	protein_coding	COP|COP1|LLID-114769|PSEUDO-ICE	11q22.3	caspase recruitment domain family member 16	Broad expression in spleen (RPKM 14.0), appendix (RPKM 12.0) and 23 other tissues
CARD19	chr9	93096218	93113283	+	ENSG00000165233.17	protein_coding	BinCARD|C9orf89	9q22.31	caspase recruitment domain family member 19	Ubiquitous expression in bone marrow (RPKM 13.5), testis (RPKM 6.7) and 24 other tissues
CARD6	chr5	40841184	40860175	+	ENSG00000132357.13	protein_coding	CINCIN1	5p13.1	caspase recruitment domain family member 6	This gene encodes a protein that contains a caspase recruitment domain (CARD), an antiparallel six-helical bundle that mediates homotypic protein-protein interactions. The encoded protein is a microtubule-associated protein that has been shown to interact with receptor-interacting protein kinases and positively modulate signal transduction pathways converging on activation of the inducible transcription factor NF-kB. [provided by RefSeq, Jul 2008]
CARD8	chr19	48180770	48255946	-	ENSG00000105483.17	protein_coding	CARDINAL|DACAR|DAKAR|NDPP|NDPP1|TUCAN	19q13.33	caspase recruitment domain family member 8	The protein encoded by this gene belongs to the caspase recruitment domain (CARD)-containing family of proteins, which are involved in pathways leading to activation of caspases or nuclear factor kappa-B (NFKB). This protein may be a component of the inflammasome, a protein complex that plays a role in the activation of proinflammatory caspases. It is thought that this protein acts as an adaptor molecule that negatively regulates NFKB activation, CASP1-dependent IL1B secretion, and apoptosis. Polymorphisms in this gene may be associated with a susceptibility to rheumatoid arthritis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2010]
CARD8-AS1	chr19	48255675	48258199	+	ENSG00000268001.1	antisense	-	19q13.33	CARD8 antisense RNA 1	-
CARD9	chr9	136361903	136373681	-	ENSG00000187796.13	protein_coding	CANDF2|hCARD9	9q34.3	caspase recruitment domain family member 9	The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008]
CARF	chr2	202912214	202987063	+	ENSG00000138380.17	protein_coding	ALS2CR8|NYD-SP24	2q33.2	calcium responsive transcription factor	Broad expression in testis (RPKM 5.9), thyroid (RPKM 3.4) and 24 other tissues
CARHSP1	chr16	8852942	8869012	-	ENSG00000153048.10	protein_coding	CRHSP-24|CRHSP24|CSDC1	16p13.2	calcium regulated heat stable protein 1	Ubiquitous expression in testis (RPKM 17.9), adrenal (RPKM 11.8) and 25 other tissues
CARM1	chr19	10871513	10923070	+	ENSG00000142453.11	protein_coding	PRMT4	19p13.2	coactivator associated arginine methyltransferase 1	This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts specifically on histones and other chromatin-associated proteins and is involved in regulation of gene expression. The enzyme may act in association with other proteins or within multi-protein complexes and may play a role in cell type-specific functions and cell lineage specification. A related pseudogene is located on chromosome 9. [provided by RefSeq, Aug 2013]
CARMIL1	chr6	25279078	25620530	+	ENSG00000079691.17	protein_coding	CARMIL|CARMIL1a|LRRC16|LRRC16A|dJ501N12.1|dJ501N12.5	6p22.2	capping protein regulator and myosin 1 linker 1	Broad expression in testis (RPKM 7.4), small intestine (RPKM 6.3) and 24 other tissues
CARMIL2	chr16	67644919	67657569	+	ENSG00000159753.13	protein_coding	CARMIL2b|IMD58|LRRC16C|RLTPR	16q22.1	capping protein regulator and myosin 1 linker 2	This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Reduced expression of this gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function. [provided by RefSeq, May 2017]
CARMIL3	chr14	24052000	24069728	+	ENSG00000186648.14	protein_coding	C14orf121|LRRC16B|crml-1	14q11.2	capping protein regulator and myosin 1 linker 3	Broad expression in skin (RPKM 2.9), brain (RPKM 2.8) and 19 other tissues
CARNMT1	chr9	74981020	75028423	-	ENSG00000156017.12	protein_coding	C9orf41|UPF0586	9q21.13	carnosine N-methyltransferase 1	The protein encoded by this gene is a methyltransferase that converts carnosine to anserine, a dipeptide found abundantly in skeletal muscle. The encoded protein can methylate other dipeptides as well. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
CARNS1	chr11	67414968	67425607	+	ENSG00000172508.10	protein_coding	ATPGD1	11q13.2	carnosine synthase 1	CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010]
CARS1	chr11	 3000929	3057423	-	ENSG00000110619	protein-coding	CARS|CYSRS|MCDDBH|MDBH|MGC:11246	11p15.4	cysteinyl-tRNA synthetase 1	This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010]
CARS1-AS1	chr11	 3029394	3041260	+	ENSG00000247473	ncRNA	CARS-AS1	11p15.4	CARS1 antisense RNA 1	-
CASC11	chr8	127686343	127733967	-	ENSG00000249375.7	lincRNA	CARLO7|CARLo-7|LINC00990|MYMLR|TCONS_00014535	8q24.21	cancer susceptibility 11	Low expression observed in reference dataset
CASC15	chr6	21664772	22368328	+	ENSG00000272168.6	lincRNA	CANT|LINC00340|lnc-SOX4-1	6p22.3	cancer susceptibility 15	This gene produces a long non-coding RNA that may regulate cell proliferation. This RNA is upregulated in hepatocellular carcinoma, where it is thought to function as an oncogene. However, some splice variants of this gene may function as a tumor suppressor in neuroblastoma and other tumor types. Circular RNA variants were observed at this gene. [provided by RefSeq, Dec 2017]
CASC16	chr16	52552090	52652105	-	ENSG00000249231.7	lincRNA	LINC00918	16q12.1-q12.2	cancer susceptibility 16	Restricted expression toward testis (RPKM 9.4)
CASC17	chr17	71097775	71202177	-	ENSG00000260785.1	lincRNA	LINC00600	17q24.3	cancer susceptibility 17	Restricted expression toward testis (RPKM 1.2)
CASC19	chr8	127185635	127203222	-	ENSG00000254166.1	lincRNA	CARLO6|CARLo-6|LINC01245	8q24.21	cancer susceptibility 19	Low expression observed in reference dataset
CASC21	chr8	127339274	127392631	+	ENSG00000253929.1	lincRNA	CARLO2|CARLo-2|LINC01244	8q24.21	cancer susceptibility 21	Low expression observed in reference dataset
CASC3	chr17	40140318	40172183	+	ENSG00000108349.16	protein_coding	BTZ|MLN51	17q21.1	CASC3 exon junction complex subunit	The product of this gene is a core component of the exon junction complex (EJC), a protein complex that is deposited on spliced mRNAs at exon-exon junctions and functions in nonsense-mediated mRNA decay (NMD). The encoded protein binds RNA and interacts with two other EJC core components. It is predominantly located in the cytoplasm, but shuttles into the nucleus where it localizes to nuclear speckles. [provided by RefSeq, Jul 2008]
CASC9	chr8	75223404	75324741	-	ENSG00000249395.2	lincRNA	ESCCAL-1|ESSCAL1|LINC00981|linc-JPH1	8q21.13	cancer susceptibility 9	Biased expression in colon (RPKM 1.7), placenta (RPKM 0.9) and 8 other tissues
CASD1	chr7	94509219	94557019	+	ENSG00000127995.16	protein_coding	C7orf12|NBLA04196|SOAT	7q21.3	CAS1 domain containing 1	Ubiquitous expression in adrenal (RPKM 10.9), brain (RPKM 10.1) and 25 other tissues
CASKIN1	chr16	2177180	2196525	-	ENSG00000167971.15	protein_coding	ANKS5A	16p13.3	CASK interacting protein 1	Broad expression in brain (RPKM 9.2), colon (RPKM 2.0) and 23 other tissues
CASKIN2	chr17	75500261	75515583	-	ENSG00000177303.9	protein_coding	ANKS5B	17q25.1	CASK interacting protein 2	This gene encodes a large protein that contains six ankyrin repeats, as well as a Src homology 3 (SH3) domain and two sterile alpha motif (SAM) domains, which may be involved in protein-protein interactions. The C-terminal portion of this protein is proline-rich and contains a conserved region. A related protein interacts with calcium/calmodulin-dependent serine protein kinase (CASK). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
CASP1	chr11	105025443	105035250	-	ENSG00000137752.23	protein_coding	ICE|IL1BC|P45	11q22.3	caspase 1	This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]
CASP10	chr2	201182881	201229406	+	ENSG00000003400.14	protein_coding	ALPS2|FLICE-2|FLICE2|MCH4	2q33.1	caspase 10	This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune lymphoproliferative syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]
CASP16P	chr16	3144219	3149963	+	ENSG00000228146.7	transcribed_unprocessed_pseudogene	CASP16	16p13.3	caspase 16, pseudogene	Biased expression in duodenum (RPKM 7.7), small intestine (RPKM 5.2) and 2 other tissues
CASP2	chr7	143288215	143307696	+	ENSG00000106144.19	protein_coding	CASP-2|ICH1|NEDD-2|NEDD2|PPP1R57	7q34	caspase 2	This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Caspases mediate cellular apoptosis through the proteolytic cleavage of specific protein substrates. The encoded protein may function in stress-induced cell death pathways, cell cycle maintenance, and the suppression of tumorigenesis. Increased expression of this gene may play a role in neurodegenerative disorders including Alzheimers disease, Huntingtons disease and temporal lobe epilepsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
CASP4	chr11	104942866	104969436	-	ENSG00000196954.13	protein_coding	ICE(rel)II|ICEREL-II|ICH-2|Mih1|Mih1/TX|TX	11q22.3	caspase 4	This gene encodes a protein that is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain and a large and small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This caspase is able to cleave and activate its own precursor protein, as well as caspase 1 precursor. When overexpressed, this gene induces cell apoptosis. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
CASP5	chr11	104994235	105023168	-	ENSG00000137757.10	protein_coding	ICE(rel)III|ICEREL-III|ICH-3	11q22.3	caspase 5	This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. Overexpression of the active form of this enzyme induces apoptosis in fibroblasts. Max, a central component of the Myc/Max/Mad transcription regulation network important for cell growth, differentiation, and apoptosis, is cleaved by this protein; this process requires Fas-mediated dephosphorylation of Max. The expression of this gene is regulated by interferon-gamma and lipopolysaccharide. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]
CASP6	chr4	109688622	109703583	-	ENSG00000138794.9	protein_coding	MCH2	4q25	caspase 6	This gene encodes a member of the cysteine-aspartic acid protease (caspase) family of enzymes. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic acid residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspases 7, 8 and 10, and is thought to function as a downstream enzyme in the caspase activation cascade. Alternative splicing of this gene results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Oct 2015]
CASP7	chr10	113679162	113730907	+	ENSG00000165806.19	protein_coding	CASP-7|CMH-1|ICE-LAP3|LICE2|MCH3	10q25.3	caspase 7	This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
CASP8	chr2	201233443	201287711	+	ENSG00000064012.21	protein_coding	ALPS2B|CAP4|Casp-8|FLICE|MACH|MCH5	2q33.1	caspase 8	This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain, a large protease subunit, and a small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This protein is involved in the programmed cell death induced by Fas and various apoptotic stimuli. The N-terminal FADD-like death effector domain of this protein suggests that it may interact with Fas-interacting protein FADD. This protein was detected in the insoluble fraction of the affected brain region from Huntington disease patients but not in those from normal controls, which implicated the role in neurodegenerative diseases. Many alternatively spliced transcript variants encoding different isoforms have been described, although not all variants have had their full-length sequences determined. [provided by RefSeq, Jul 2008]
CASP9	chr1	15490832	15526534	-	ENSG00000132906.17	protein_coding	APAF-3|APAF3|ICE-LAP6|MCH6|PPP1R56	1p36.21	caspase 9	This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein can undergo autoproteolytic processing and activation by the apoptosome, a protein complex of cytochrome c and the apoptotic peptidase activating factor 1; this step is thought to be one of the earliest in the caspase activation cascade. This protein is thought to play a central role in apoptosis and to be a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
CASQ1	chr1	160190556	160201886	+	ENSG00000143318.12	protein_coding	CASQ|PDIB1|VMCQA	1q23.2	calsequestrin 1	This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013]
CASQ2	chr1	115700007	115768781	-	ENSG00000118729.11	protein_coding	PDIB2	1p13.1	calsequestrin 2	The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008]
CASS4	chr20	56412112	56460387	+	ENSG00000087589.16	protein_coding	C20orf32|CAS4|HEFL|HEPL	20q13.31	Cas scaffold protein family member 4	Broad expression in lung (RPKM 5.8), appendix (RPKM 4.9) and 15 other tissues
CAST	chr5	96525267	96779595	+	ENSG00000153113.23	protein_coding	BS-17|PLACK	5q15	calpastatin	The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]
CASTOR1	chr22	 30285117	30289505	-	ENSG00000239282	protein-coding	GATSL3	22q12.2	cytosolic arginine sensor for mTORC1 subunit 1	Broad expression in esophagus (RPKM 13.7), placenta (RPKM 8.5) and 22 other tissues
CASTOR2	chr7	 74964705	75031528	+	ENSG00000274070	protein-coding	GATSL1|GATSL2	7q11.23	cytosolic arginine sensor for mTORC1 subunit 2	Ubiquitous expression in brain (RPKM 6.4), ovary (RPKM 2.5) and 24 other tissues
CASTOR3	chr7	 100200653	100272232	-	ENSG00000239521	pseudogene	GATS|STAG3OS	7q22.1	CASTOR family member 3	Broad expression in brain (RPKM 17.6), testis (RPKM 9.6) and 22 other tissues
CASZ1	chr1	10636604	10796650	-	ENSG00000130940.14	protein_coding	CAS11|CST|SRG|ZNF693|dJ734G22.1	1p36.22	castor zinc finger 1	The protein encoded by this gene is a zinc finger transcription factor. The encoded protein may function as a tumor suppressor, and single nucleotide polymorphisms in this gene are associated with blood pressure variation. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
CATIP	chr2	218356856	218368099	+	ENSG00000158428.3	protein_coding	C2orf62	2q35	ciliogenesis associated TTC17 interacting protein	Biased expression in testis (RPKM 1.8), kidney (RPKM 1.1) and 13 other tissues
CATIP-AS2	chr2	218326889	218357966	-	ENSG00000237281.1	antisense	-	2q35	CATIP antisense RNA 2	-
CATSPER1	chr11	66016752	66026517	-	ENSG00000175294.5	protein_coding	CATSPER|SPGF7	11q13.1	cation channel sperm associated 1	Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The protein family features a single repeat with six membrane-spanning segments and a predicted calcium-selective pore region. [provided by RefSeq, Jul 2008]
CATSPER2	chr15	43628503	43668118	-	ENSG00000166762.16	protein_coding	-	15q15.3	cation channel sperm associated 2	Broad expression in testis (RPKM 13.6), skin (RPKM 2.9) and 15 other tissues
CATSPER2P1	chr15	43726918	43747094	-	ENSG00000205771.6	transcribed_unprocessed_pseudogene	-	15q15.3	cation channel sperm associated 2 pseudogene 1	Broad expression in testis (RPKM 4.5), thyroid (RPKM 1.3) and 22 other tissues
CATSPER3	chr5	134967906	135011707	+	ENSG00000152705.7	protein_coding	CACRC	5q31.1	cation channel sperm associated 3	Biased expression in testis (RPKM 12.5) and kidney (RPKM 0.5)
CATSPER4	chr1	26190561	26202968	+	ENSG00000188782.8	protein_coding	-	1p36.11	cation channel sperm associated 4	-
CATSPERB	chr14	91580696	91780707	-	ENSG00000133962.7	protein_coding	C14orf161|CatSper(beta)	14q32.12	cation channel sperm associated auxiliary subunit beta	Biased expression in testis (RPKM 2.2), gall bladder (RPKM 1.6) and 12 other tissues
CATSPERG	chr19	38335775	38370943	+	ENSG00000099338.22	protein_coding	C19orf15	19q13.2	cation channel sperm associated auxiliary subunit gamma	CATSPERG is a subunit of the CATSPER (see CATSPER1; MIM 606389) sperm calcium channel, which is required for sperm hyperactivated motility and male fertility (Wang et al., 2009 [PubMed 19516020]).[supplied by OMIM, Jul 2010]
CATSPERZ	chr11	 64300358	64304770	+	ENSG00000219435	protein-coding	C11orf20|TEX40	11q13.1	catsper channel auxiliary subunit zeta	Restricted expression toward testis (RPKM 183.9)
CAV1	chr7	116524785	116561184	+	ENSG00000105974.11	protein_coding	BSCL3|CGL3|LCCNS|MSTP085|PPH3|VIP21	7q31.2	caveolin 1	The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]
CAV2	chr7	116287380	116508541	+	ENSG00000105971.14	protein_coding	CAV	7q31.2	caveolin 2	The protein encoded by this gene is a major component of the inner surface of caveolae, small invaginations of the plasma membrane, and is involved in essential cellular functions, including signal transduction, lipid metabolism, cellular growth control and apoptosis. This protein may function as a tumor suppressor. This gene and related family member (CAV1) are located next to each other on chromosome 7, and express colocalizing proteins that form a stable hetero-oligomeric complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Additional isoforms resulting from the use of alternate in-frame translation initiation codons have also been described, and shown to have preferential localization in the cell (PMID:11238462). [provided by RefSeq, May 2011]
CAVIN1	chr17	 42402449	42423256	-	ENSG00000177469	protein-coding	CAVIN|CGL4|FKSG13|PTRF|cavin-1	17q21.2	caveolae associated protein 1	This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3 end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]
CAVIN2	chr2	 191834310	191847088	-	ENSG00000168497	protein-coding	PS-p68|SDPR|SDR|cavin-2	2q32.3	caveolae associated protein 2	This gene encodes a calcium-independent phospholipid-binding protein whose expression increases in serum-starved cells. This protein is a substrate for protein kinase C (PKC) phosphorylation and recruits polymerase I and transcript release factor (PTRF) to caveolae. Removal of this protein causes caveolae loss and its over-expression results in caveolae deformation and membrane tubulation.[provided by RefSeq, Sep 2009]
CBARP	chr19	1228287	1238027	-	ENSG00000099625.12	protein_coding	BARP|C19orf26|DOS	19p13.3	CACN subunit beta associated regulatory protein	Biased expression in brain (RPKM 2.8), adrenal (RPKM 1.1) and 12 other tissues
CBFA2T2	chr20	33490075	33650036	+	ENSG00000078699.21	protein_coding	EHT|MTGR1|ZMYND3|p85	20q11.21-q11.22	CBFA2/RUNX1 partner transcriptional co-repressor 2	In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5-region of the RUNX1 (AML1) gene fused to the 3-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described. [provided by RefSeq, Jul 2008]
CBFA2T3	chr16	88874858	88977204	-	ENSG00000129993.14	protein_coding	ETO2|MTG16|MTGR2|RUNX1T3|ZMYND4	16q24.3	CBFA2/RUNX1 partner transcriptional co-repressor 3	This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5-region of the runt-related transcription factor 1 gene fused to the 3-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]
CBFB	chr16	67029116	67101058	+	ENSG00000067955.13	protein_coding	PEBP2B	16q22.1	core-binding factor subunit beta	The protein encoded by this gene is the beta subunit of a heterodimeric core-binding transcription factor belonging to the PEBP2/CBF transcription factor family which master-regulates a host of genes specific to hematopoiesis (e.g., RUNX1) and osteogenesis (e.g., RUNX2). The beta subunit is a non-DNA binding regulatory subunit; it allosterically enhances DNA binding by alpha subunit as the complex binds to the core site of various enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers and GM-CSF promoters. Alternative splicing generates two mRNA variants, each encoding a distinct carboxyl terminus. In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
CBL	chr11	119206276	119313926	+	ENSG00000110395.6	protein_coding	C-CBL|CBL2|FRA11B|NSLL|RNF55	11q23.3	Cbl proto-oncogene	This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia, and expansion of CGG repeats in the 5 UTR has been associated with Jacobsen syndrome. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Jul 2016]
CBLB	chr3	105655461	105869552	-	ENSG00000114423.18	protein_coding	Cbl-b|Nbla00127|RNF56	3q13.11	Cbl proto-oncogene B	This gene encodes an E3 ubiquitin-protein ligase which promotes proteosome-mediated protein degradation by transferring ubiquitin from an E2 ubiquitin-conjugating enzyme to a substrate. The encoded protein is involved in the regulation of immune response by limiting T-cell receptor, B-cell receptor, and high affinity immunoglobulin epsilon receptor activation. Studies in mouse suggest that this gene is involved in antifungal host defense and that its inhibition leads to increased fungal killing. Manipulation of this gene may be beneficial in implementing immunotherapies for a variety of conditions, including cancer, autoimmune diseases, allergies, and infections. [provided by RefSeq, Sep 2017]
CBLC	chr19	44777869	44800634	+	ENSG00000142273.10	protein_coding	CBL-3|CBL-SL|RNF57	19q13.32	Cbl proto-oncogene C	This gene encodes a member of the Cbl family of E3 ubiquitin ligases. Cbl proteins play important roles in cell signaling through the ubiquitination and subsequent downregulation of tyrosine kinases. Expression of this gene may be restricted to epithelial cells, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
CBLIF	chr11	 59829273	59845499	-	ENSG00000134812	protein-coding	GIF|IF|IFMH|INF|TCN3	11q12.1	cobalamin binding intrinsic factor	This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008]
CBLL1	chr7	107743697	107761667	+	ENSG00000105879.11	protein_coding	HAKAI|RNF188	7q22.3	Cbl proto-oncogene like 1	This gene encodes an E3 ubiquitin-ligase for the E-cadherin complex and mediates its ubiquitination, endocytosis, and degradation in the lysosomes. The encoded protein contains a RING-finger domain and is also thought to have a role in control of cell proliferation. A related pseudogene has been identified on chromosome X. Alternative splicing results in a non-coding transcript variant. [provided by RefSeq, Aug 2011]
CBLN1	chr16	49277917	49281831	-	ENSG00000102924.11	protein_coding	-	16q12.1	cerebellin 1 precursor	Biased expression in fat (RPKM 8.8), testis (RPKM 8.3) and 9 other tissues
CBLN3	chr14	24426532	24430954	-	ENSG00000139899.10	protein_coding	PRO1486	14q12	cerebellin 3 precursor	Members of the precerebellin family, such as CBLN3, contain a cerebellin motif (see CBLN1; MIM 600432) and a C-terminal C1q signature domain (see MIM 120550) that mediates trimeric assembly of atypical collagen complexes. However, precerebellins do not contain a collagen motif, suggesting that they are not conventional components of the extracellular matrix (Pang et al., 2000 [PubMed 10964938]).[supplied by OMIM, Aug 2009]
CBR1	chr21	36069941	36073166	+	ENSG00000159228.12	protein_coding	CBR|PG-9-KR|SDR21C1|hCBR1	21q22.12	carbonyl reductase 1	The protein encoded by this gene belongs to the short-chain dehydrogenases/reductases (SDR) family, which function as NADPH-dependent oxidoreductases having wide specificity for carbonyl compounds, such as quinones, prostaglandins, and various xenobiotics. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013]
CBR3	chr21	36134912	36146566	+	ENSG00000159231.5	protein_coding	HEL-S-25|SDR21C2|hCBR3	21q22.12	carbonyl reductase 3	Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and pharmacologically active carbonyl compounds to their corresponding alcohols.  The enzyme is classified as a monomeric NADPH-dependent oxidoreductase.  CBR3 contains three exons spanning 11.2 kilobases and is closely linked to another carbonyl reductase gene - CBR1. [provided by RefSeq, Jul 2008]
CBR3-AS1	chr21	36131767	36175815	-	ENSG00000236830.6	processed_transcript	PlncRNA-1|PlncRNA1	21q22.12	CBR3 antisense RNA 1	Ubiquitous expression in prostate (RPKM 4.6), salivary gland (RPKM 3.1) and 25 other tissues
CBR4	chr4	168863770	169010275	-	ENSG00000145439.11	protein_coding	SDR45C1	4q32.3	carbonyl reductase 4	Ubiquitous expression in lung (RPKM 23.4), fat (RPKM 17.8) and 25 other tissues
CBS	chr21	43053191	43076943	-	ENSG00000160200.17	protein_coding	CBSL|HIP4	21q22.3	cystathionine beta-synthase	The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]
CBWD1	chr9	121038	179147	-	ENSG00000172785.18	protein_coding	COBP	9p24.3	COBW domain containing 1	Ubiquitous expression in thyroid (RPKM 21.1), adrenal (RPKM 19.5) and 25 other tissues
CBWD2	chr2	113437691	113496189	+	ENSG00000136682.14	protein_coding	-	2q14.1	COBW domain containing 2	-
CBWD3	chr9	68232003	68300015	+	ENSG00000196873.15	protein_coding	bA561O23.1	9q21.11	COBW domain containing 3	Ubiquitous expression in small intestine (RPKM 6.1), thyroid (RPKM 5.9) and 25 other tissues
CBWD5	chr9	65668805	65734041	+	ENSG00000147996.16	protein_coding	CBWD3|DC36	9q21.11	COBW domain containing 5	Ubiquitous expression in thyroid (RPKM 9.8), small intestine (RPKM 9.4) and 25 other tissues
CBWD6	chr9	 41131309	41205735	-	ENSG00000215126	protein-coding	CBWD7	9p11.2	COBW domain containing 6	Predicted to enable ATP binding activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
CBX1	chr17	48070052	48101521	-	ENSG00000108468.14	protein_coding	CBX|HP1-BETA|HP1Hs-beta|HP1Hsbeta|M31|MOD1|p25beta	17q21.32	chromobox 1	This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family . The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The protein may play an important role in the epigenetic control of chromatin structure and gene expression. Several related pseudogenes are located on chromosomes 1, 3, and X. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
CBX3	chr7	26201162	26213356	+	ENSG00000122565.18	protein_coding	HECH|HP1-GAMMA|HP1Hs-gamma	7p15.2	chromobox 3	At the nuclear envelope, the nuclear lamina and heterochromatin are adjacent to the inner nuclear membrane. The protein encoded by this gene binds DNA and is a component of heterochromatin. This protein also can bind lamin B receptor, an integral membrane protein found in the inner nuclear membrane. The dual binding functions of the encoded protein may explain the association of heterochromatin with the inner nuclear membrane. This protein binds histone H3 tails methylated at Lys-9 sites. This protein is also recruited to sites of ultraviolet-induced DNA damage and double-strand breaks. Two transcript variants encoding the same protein but differing in the 5 UTR, have been found for this gene.[provided by RefSeq, Mar 2011]
CBX3P4	chr12	2786931	2794295	-	ENSG00000256030.1	transcribed_processed_pseudogene	-	12p13.33	chromobox 3 pseudogene 4	-
CBX3P7	chr11	89293745	89294246	-	ENSG00000197692.5	processed_pseudogene	-	11q14.3	chromobox 3 pseudogene 7	-
CBX3P9	chr6	116453014	116453565	-	ENSG00000217241.1	processed_pseudogene	-	6q22.1	chromobox 3 pseudogene 9	-
CBX4	chr17	79833156	79839429	-	ENSG00000141582.14	protein_coding	NBP16|PC2	17q25.3	chromobox 4	Broad expression in bone marrow (RPKM 17.4), spleen (RPKM 5.9) and 24 other tissues
CBX5	chr12	54230940	54280133	-	ENSG00000094916.15	protein_coding	HEL25|HP1|HP1A	12q13.13	chromobox 5	This gene encodes a highly conserved nonhistone protein, which is a member of the heterochromatin protein family. The protein is enriched in the heterochromatin and associated with centromeres. The protein has a single N-terminal chromodomain which can bind to histone proteins via methylated lysine residues, and a C-terminal chromo shadow-domain (CSD) which is responsible for the homodimerization and interaction with a number of chromatin-associated nonhistone proteins. The encoded product is involved in the formation of functional kinetochore through interaction with essential kinetochore proteins. The gene has a pseudogene located on chromosome 3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
CBX5P1	chr3	88095408	88095968	-	ENSG00000241535.1	processed_pseudogene	-	3p11.1	chromobox 5 pseudogene 1	-
CBX6	chr22	38861450	38872314	-	ENSG00000183741.11	protein_coding	-	22q13.1	chromobox 6	-
CBX7	chr22	39120167	39152674	-	ENSG00000100307.12	protein_coding	-	22q13.1	chromobox 7	Ubiquitous expression in ovary (RPKM 27.3), endometrium (RPKM 25.8) and 25 other tissues
CBX8	chr17	79792132	79801683	-	ENSG00000141570.10	protein_coding	PC3|RC1	17q25.3	chromobox 8	Ubiquitous expression in testis (RPKM 4.1), placenta (RPKM 2.1) and 25 other tissues
CBY1	chr22	38656636	38673854	+	ENSG00000100211.10	protein_coding	C22orf2|CBY|Chibby1|HS508I15A|PGEA1|PIGEA-14|PIGEA14|arb1	22q13.1	chibby family member 1, beta catenin antagonist	Beta-catenin is a transcriptional activator and oncoprotein involved in the development of several cancers. The protein encoded by this gene interacts directly with the C-terminal region of beta-catenin, inhibiting oncogenic beta-catenin-mediated transcriptional activation by competing with transcription factors for binding to beta-catenin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
CBY3	chr5	179678583	179680974	-	ENSG00000204659.4	protein_coding	-	5q35.3	chibby family member 3	-
CC2D1B	chr1	52345723	52366193	-	ENSG00000154222.14	protein_coding	Lgd1	1p32.3	coiled-coil and C2 domain containing 1B	Ubiquitous expression in testis (RPKM 5.5), lung (RPKM 5.1) and 25 other tissues
CC2D2A	chr4	15469865	15601557	+	ENSG00000048342.15	protein_coding	COACH2|JBTS9|MKS6	4p15.32	coiled-coil and C2 domain containing 2A	This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
CC2D2B	chr10	95907603	96032684	+	ENSG00000188649.12	protein_coding	C10orf130|C10orf131	10q24.1	coiled-coil and C2 domain containing 2B	Biased expression in testis (RPKM 1.9), endometrium (RPKM 0.3) and 7 other tissues
CCAR1	chr10	68721012	68792377	+	ENSG00000060339.13	protein_coding	-	10q21.3	cell division cycle and apoptosis regulator 1	-
CCAR2	chr8	22604632	22621514	+	ENSG00000158941.16	protein_coding	DBC-1|DBC1|KIAA1967|NET35|p30 DBC|p30DBC	8p21.3	cell cycle and apoptosis regulator 2	Ubiquitous expression in testis (RPKM 30.7), brain (RPKM 20.0) and 25 other tissues
CCAT1	chr8	127207866	127219088	-	ENSG00000247844.1	lincRNA	CARLO5|CARLo-5|onco-lncRNA-40	8q24.21	colon cancer associated transcript 1	This gene produces a long non-coding RNA that promotes tumor formation and is upregulated in colon cancer and other cancer cell types. This transcript may regulate long range chromosomal interactions, including at the Myc oncoprotein locus. This RNA may also function as a molecular sponge for microRNAs. [provided by RefSeq, Dec 2017]
CCBE1	chr18	59430940	59697380	-	ENSG00000183287.13	protein_coding	HKLLS1	18q21.32	collagen and calcium binding EGF domains 1	This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]
CCDC102A	chr16	57512178	57536599	-	ENSG00000135736.5	protein_coding	-	16q21	coiled-coil domain containing 102A	Ubiquitous expression in prostate (RPKM 2.8), endometrium (RPKM 2.6) and 25 other tissues
CCDC102B	chr18	68715209	69055189	+	ENSG00000150636.17	protein_coding	ACY1L|AN|C18orf14|HsT1731	18q22.1-q22.2	coiled-coil domain containing 102B	Broad expression in placenta (RPKM 1.5), lung (RPKM 1.1) and 20 other tissues
CCDC106	chr19	55641062	55653161	+	ENSG00000173581.7	protein_coding	HSU79303|ZNF581	19q13.42	coiled-coil domain containing 106	Ubiquitous expression in kidney (RPKM 7.5), brain (RPKM 6.5) and 25 other tissues
CCDC112	chr5	115267188	115296831	-	ENSG00000164221.12	protein_coding	MBC1	5q22.3	coiled-coil domain containing 112	Broad expression in testis (RPKM 14.0), brain (RPKM 2.9) and 22 other tissues
CCDC116	chr22	21632716	21637327	+	ENSG00000161180.10	protein_coding	-	22q11.21	coiled-coil domain containing 116	-
CCDC117	chr22	28772674	28789301	+	ENSG00000159873.9	protein_coding	dJ366L4.1	22q12.1	coiled-coil domain containing 117	Broad expression in testis (RPKM 25.5), placenta (RPKM 10.2) and 24 other tissues
CCDC12	chr3	46921726	46982010	-	ENSG00000160799.11	protein_coding	-	3p21.31	coiled-coil domain containing 12	-
CCDC121	chr2	27625639	27629012	-	ENSG00000176714.9	protein_coding	-	2p23.3	coiled-coil domain containing 121	-
CCDC122	chr13	43823909	43879727	-	ENSG00000151773.12	protein_coding	-	13q14.11	coiled-coil domain containing 122	Ubiquitous expression in prostate (RPKM 1.4), ovary (RPKM 1.4) and 25 other tissues
CCDC124	chr19	17933016	17943991	+	ENSG00000007080.10	protein_coding	Lso2|oxs1	19p13.11	coiled-coil domain containing 124	Ubiquitous expression in fat (RPKM 28.5), kidney (RPKM 22.6) and 25 other tissues
CCDC125	chr5	69280175	69332809	-	ENSG00000183323.12	protein_coding	KENAE	5q13.2	coiled-coil domain containing 125	Ubiquitous expression in bone marrow (RPKM 4.7), prostate (RPKM 4.2) and 25 other tissues
CCDC126	chr7	23597379	23644708	+	ENSG00000169193.11	protein_coding	-	7p15.3	coiled-coil domain containing 126	-
CCDC127	chr5	196871	218215	-	ENSG00000164366.3	protein_coding	-	5p15.33	coiled-coil domain containing 127	-
CCDC13	chr3	42692663	42773253	-	ENSG00000244607.5	protein_coding	-	3p22.1	coiled-coil domain containing 13	-
CCDC13-AS1	chr3	42732575	42746768	+	ENSG00000173811.10	antisense	-	3p22.1	CCDC13 antisense RNA 1	-
CCDC134	chr22	41800679	41826299	+	ENSG00000100147.13	protein_coding	-	22q13.2	coiled-coil domain containing 134	-
CCDC136	chr7	128790757	128822132	+	ENSG00000128596.16	protein_coding	NAG6	7q32.1	coiled-coil domain containing 136	Restricted expression toward testis (RPKM 72.9)
CCDC137	chr17	81666364	81673904	+	ENSG00000185298.12	protein_coding	RaRF	17q25.3	coiled-coil domain containing 137	Ubiquitous expression in skin (RPKM 7.7), lymph node (RPKM 6.5) and 25 other tissues
CCDC138	chr2	108786757	108885477	+	ENSG00000163006.11	protein_coding	-	2q13	coiled-coil domain containing 138	-
CCDC140	chr2	222298147	222305217	+	ENSG00000163081.2	protein_coding	-	2q36.1	CCDC140 long non-coding RNA	Low expression observed in reference dataset
CCDC141	chr2	178830269	179050086	-	ENSG00000163492.14	protein_coding	CAMDI	2q31.2	coiled-coil domain containing 141	Biased expression in heart (RPKM 4.9), lung (RPKM 0.5) and 4 other tissues
CCDC142	chr2	74471986	74483408	-	ENSG00000135637.13	protein_coding	-	2p13.1	coiled-coil domain containing 142	-
CCDC144B	chr17	18537800	18625617	-	ENSG00000154874.15	transcribed_unprocessed_pseudogene	-	17p11.2	coiled-coil domain containing 144B (pseudogene)	-
CCDC144CP	chr17	20321164	20403557	+	ENSG00000154898.15	transcribed_processed_pseudogene	CCDC144C	17p11.2	coiled-coil domain containing 144C, pseudogene	-
CCDC146	chr7	77122434	77329533	+	ENSG00000135205.14	protein_coding	MBO2	7q11.23	coiled-coil domain containing 146	Broad expression in testis (RPKM 14.9), skin (RPKM 7.4) and 22 other tissues
CCDC148	chr2	158171081	158456753	-	ENSG00000153237.17	protein_coding	-	2q24.1	coiled-coil domain containing 148	-
CCDC15	chr11	124954121	125041489	+	ENSG00000149548.14	protein_coding	-	11q24.2	coiled-coil domain containing 15	-
CCDC150	chr2	196639554	196763490	+	ENSG00000144395.17	protein_coding	-	2q33.1	coiled-coil domain containing 150	-
CCDC150P1	chr12	122322122	122324336	-	ENSG00000256304.1	processed_pseudogene	-	12q24.31	coiled-coil domain containing 150 pseudogene 1	-
CCDC152	chr5	42756801	42802360	+	ENSG00000198865.9	protein_coding	CH5400	5p12	coiled-coil domain containing 152	Broad expression in liver (RPKM 530.0), small intestine (RPKM 440.4) and 22 other tissues
CCDC153	chr11	119189638	119196769	-	ENSG00000248712.7	protein_coding	-	11q23.3	coiled-coil domain containing 153	-
CCDC154	chr16	1434383	1444556	-	ENSG00000197599.12	protein_coding	C16orf29	16p13.3	coiled-coil domain containing 154	Broad expression in testis (RPKM 3.7), spleen (RPKM 1.3) and 18 other tissues
CCDC157	chr22	30356635	30378658	+	ENSG00000187860.10	protein_coding	-	22q12.2	coiled-coil domain containing 157	-
CCDC158	chr4	76312997	76421868	-	ENSG00000163749.17	protein_coding	-	4q21.1	coiled-coil domain containing 158	-
CCDC159	chr19	11344684	11354944	+	ENSG00000183401.11	protein_coding	-	19p13.2	coiled-coil domain containing 159	-
CCDC162P	chr6	109165831	109355063	+	ENSG00000203799.12	transcribed_unitary_pseudogene	C6orf183|C6orf184|C6orf185|CCDC162	6q21	coiled-coil domain containing 162, pseudogene	This gene is the ortholog of the mouse coiled-coil domain containing 162 gene. This locus is transcribed, but is represented as a unitary pseudogene because there are multiple changes in the coding sequence, including multiple changes that result in premature stop codons, relative to the mouse coding sequence. Transcripts from this locus are expected to encode truncated proteins, and may be candidates for nonsense-mediated decay (NMD). [provided by RefSeq, Sep 2018]
CCDC163	chr1	45493866	45500079	-	ENSG00000280670.2	protein_coding	C1orf231|CCDC163P	1p34.1	coiled-coil domain containing 163	Ubiquitous expression in thyroid (RPKM 2.5), brain (RPKM 1.4) and 25 other tissues
CCDC167	chr6	37482920	37499922	-	ENSG00000198937.8	protein_coding	C6orf129|HSPC265	6p21.2	coiled-coil domain containing 167	Ubiquitous expression in lymph node (RPKM 11.9), testis (RPKM 9.5) and 24 other tissues
CCDC169	chr13	36222008	36297840	-	ENSG00000242715.7	protein_coding	C13orf38	13q13.3	coiled-coil domain containing 169	Restricted expression toward testis (RPKM 22.3)
CCDC17	chr1	45620044	45624057	-	ENSG00000159588.14	protein_coding	-	1p34.1	coiled-coil domain containing 17	-
CCDC170	chr6	151494030	151621193	+	ENSG00000120262.9	protein_coding	C6orf97|bA282P11.1	6q25.1	coiled-coil domain containing 170	The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]
CCDC171	chr9	15553086	16061663	+	ENSG00000164989.16	protein_coding	C9orf93|bA536D16.1|bA778P13.1	9p22.3	coiled-coil domain containing 171	Broad expression in testis (RPKM 2.4), endometrium (RPKM 0.9) and 17 other tissues
CCDC174	chr3	14651746	14672659	+	ENSG00000154781.15	protein_coding	C3orf19|HSPC212|IHPM|IHPMR|ctr1	3p25.1	coiled-coil domain containing 174	The protein encoded by this gene is found in the nucleus, where it interacts with eukaryotic translation initiation factor 4A, isoform 3. The encoded protein appears to be a part of the exon junction complex, which is involved in RNA processing, translation, and nonsense-mediated mRNA decay. A mutation in this gene has been associated with infantile hypotonia with psychomotor retardation. [provided by RefSeq, Mar 2016]
CCDC175	chr14	59504539	59576831	-	ENSG00000151838.11	protein_coding	C14orf38|c14_5395	14q23.1	coiled-coil domain containing 175	Ubiquitous expression in testis (RPKM 3.9), prostate (RPKM 2.8) and 25 other tissues
CCDC18	chr1	93179919	93278730	+	ENSG00000122483.17	protein_coding	NY-SAR-41	1p22.1	coiled-coil domain containing 18	Broad expression in testis (RPKM 2.5), lymph node (RPKM 1.8) and 23 other tissues
CCDC18-AS1	chr1	93262186	93346025	-	ENSG00000223745.7	processed_transcript	-	1p22.1	CCDC18 antisense RNA 1	-
CCDC180	chr9	97307304	97378524	+	ENSG00000197816.13	protein_coding	C9orf174|CFAP76|FAP76	9q22.33	coiled-coil domain containing 180	The protein encoded by this gene contains a coiled-coil domain. Alternative splicing results in multiple transcript variants encoding different isoforms. A single nucleotide polymorphism (SNP) in this gene has been associated with increased susceptibility to Behcets Disease (PMID: 19442274). [provided by RefSeq, Dec 2016]
CCDC181	chr1	169394870	169460669	-	ENSG00000117477.12	protein_coding	C1orf114	1q24.2	coiled-coil domain containing 181	Biased expression in testis (RPKM 7.3), kidney (RPKM 1.3) and 7 other tissues
CCDC183	chr9	136796350	136807741	+	ENSG00000213213.13	protein_coding	KIAA1984|PARF|bA216L13.7	9q34.3	coiled-coil domain containing 183	Broad expression in testis (RPKM 17.0), prostate (RPKM 9.5) and 17 other tissues
CCDC184	chr12	48183584	48185926	+	ENSG00000177875.4	protein_coding	C12orf68	12q13.11	coiled-coil domain containing 184	-
CCDC186	chr10	114120862	114174220	-	ENSG00000165813.18	protein_coding	C10orf118|CCCP-1|CCCP1|golgin104	10q25.3	coiled-coil domain containing 186	Ubiquitous expression in thyroid (RPKM 7.2), prostate (RPKM 7.0) and 25 other tissues
CCDC187	chr9	136249971	136306901	-	ENSG00000260220.6	protein_coding	-	9q34.3	coiled-coil domain containing 187	Biased expression in testis (RPKM 6.0), thyroid (RPKM 0.9) and 1 other tissue
CCDC191	chr3	113964137	114056613	-	ENSG00000163617.10	protein_coding	KIAA1407	3q13.31	coiled-coil domain containing 191	Broad expression in testis (RPKM 4.6), thyroid (RPKM 3.5) and 25 other tissues
CCDC197	chr14	 93996084	94011695	+	ENSG00000175699	protein-coding	C14orf48|LINC00521|c14_5713	14q32.12	coiled-coil domain containing 197	Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
CCDC200	chr17	 43221417	43231269	-	ENSG00000236383	protein-coding	LINC00854|TMEM106A-AS1	17q21.31	coiled-coil domain containing 200	Biased expression in testis (RPKM 18.6), kidney (RPKM 1.8) and 2 other tissues
CCDC24	chr1	43991359	43996528	+	ENSG00000159214.12	protein_coding	-	1p34.1	coiled-coil domain containing 24	-
CCDC25	chr8	27733311	27772653	-	ENSG00000147419.17	protein_coding	-	8p21.1	coiled-coil domain containing 25	-
CCDC27	chr1	3746460	3771645	+	ENSG00000162592.9	protein_coding	-	1p36.32	coiled-coil domain containing 27	-
CCDC28A	chr6	138773509	138793319	+	ENSG00000024862.17	protein_coding	C6orf80|CCRL1AP	6q24.1	coiled-coil domain containing 28A	This gene encodes a coiled-coil domain containing protein. Although the specific function of this gene has not yet been determined, this gene is a known translocation partner of nucleoporin 98 in acute leukemias. The resulting fusion gene produces a nucleoporin 98-coiled-coil domain-containing protein 28A chimeric protein which may be involved in promoting myeloproliferative neoplasms. [provided by RefSeq, Jan 2017]
CCDC3	chr10	12896625	13099652	-	ENSG00000151468.10	protein_coding	-	10p13	coiled-coil domain containing 3	-
CCDC30	chr1	42463330	42654664	+	ENSG00000186409.14	protein_coding	PFD6L|PFDN6L	1p34.2	coiled-coil domain containing 30	Broad expression in testis (RPKM 2.1), thyroid (RPKM 1.4) and 19 other tissues
CCDC32	chr15	 40520993	40565042	-	ENSG00000128891	protein-coding	C15orf57|CFNDS	15q15.1	coiled-coil domain containing 32	Ubiquitous expression in lymph node (RPKM 6.7), ovary (RPKM 6.3) and 25 other tissues
CCDC33	chr15	74202705	74336472	+	ENSG00000140481.14	protein_coding	CT61|HP11097	15q24.1	coiled-coil domain containing 33	Restricted expression toward testis (RPKM 3.1)
CCDC34	chr11	27330827	27363868	-	ENSG00000109881.16	protein_coding	L15|NY-REN-41|RAMA3	11p14.1	coiled-coil domain containing 34	Broad expression in testis (RPKM 12.6), colon (RPKM 2.4) and 21 other tissues
CCDC39	chr3	180602858	180871005	-	ENSG00000145075.11	protein_coding	CFAP59|CILD14|FAP59	3q26.33	coiled-coil domain containing 39	The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011]
CCDC40	chr17	80036632	80100613	+	ENSG00000141519.14	protein_coding	CFAP172|CILD15|FAP172	17q25.3	coiled-coil domain containing 40	This gene encodes a protein that is necessary for motile cilia function. It functions in correct left-right axis formation by regulating the assembly of the inner dynein arm and the dynein regulatory complexes, which control ciliary beat. Mutations in this gene cause ciliary dyskinesia type 15, a disorder due to defects in cilia motility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
CCDC42	chr17	8729934	8745219	-	ENSG00000161973.10	protein_coding	CCDC42A	17p13.1	coiled-coil domain containing 42	Predicted to be involved in spermatid development. [provided by Alliance of Genome Resources, Apr 2022]
CCDC43	chr17	44673069	44689779	-	ENSG00000180329.13	protein_coding	-	17q21.31	coiled-coil domain containing 43	-
CCDC47	chr17	63745250	63776351	-	ENSG00000108588.13	protein_coding	GK001|MSTP041|THNS	17q23.3	coiled-coil domain containing 47	Ubiquitous expression in colon (RPKM 44.7), duodenum (RPKM 34.8) and 25 other tissues
CCDC50	chr3	191329077	191398670	+	ENSG00000152492.13	protein_coding	C3orf6|DFNA44|YMER	3q28	coiled-coil domain containing 50	This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
CCDC51	chr3	48432164	48440456	-	ENSG00000164051.13	protein_coding	MITOK	3p21.31	coiled-coil domain containing 51	Ubiquitous expression in kidney (RPKM 4.8), spleen (RPKM 3.8) and 25 other tissues
CCDC57	chr17	82101460	82212830	-	ENSG00000176155.18	protein_coding	-	17q25.3	coiled-coil domain containing 57	-
CCDC59	chr12	82223681	82358805	-	ENSG00000133773.11	protein_coding	BR22|HSPC128|TAP26	12q21.31	coiled-coil domain containing 59	Ubiquitous expression in bone marrow (RPKM 20.9), testis (RPKM 10.5) and 25 other tissues
CCDC6	chr10	59788763	59906656	-	ENSG00000108091.10	protein_coding	D10S170|H4|PTC|TPC|TST1	10q21.2	coiled-coil domain containing 6	This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010]
CCDC60	chr12	119334712	119541047	+	ENSG00000183273.6	protein_coding	-	12q24.23	coiled-coil domain containing 60	-
CCDC61	chr19	45995461	46021318	+	ENSG00000104983.8	protein_coding	VFL3	19q13.32	coiled-coil domain containing 61	Ubiquitous expression in testis (RPKM 2.6), spleen (RPKM 1.6) and 25 other tissues
CCDC62	chr12	122774327	122827528	+	ENSG00000130783.13	protein_coding	CT109|ERAP75|TSP-NY	12q24.31	coiled-coil domain containing 62	Restricted expression toward testis (RPKM 44.6)
CCDC63	chr12	110846769	110907535	+	ENSG00000173093.12	protein_coding	ODA5	12q24.11	coiled-coil domain containing 63	Restricted expression toward testis (RPKM 6.9)
CCDC65	chr12	48904110	48931840	+	ENSG00000139537.10	protein_coding	CFAP250|DRC2|FAP250|NYD-SP28	12q13.12	coiled-coil domain containing 65	This gene encodes a sperm tail protein that is highly expressed in adult testis, spermatocytes and spermatids. The protein plays a critical role in the assembly of the nexin-dynein regulatory complex. Mutations in this gene result in primary ciliary dyskinesia. [provided by RefSeq, Nov 2013]
CCDC66	chr3	56557161	56621818	+	ENSG00000180376.16	protein_coding	-	3p14.3	coiled-coil domain containing 66	-
CCDC68	chr18	54901509	54959508	-	ENSG00000166510.13	protein_coding	SE57-1	18q21.2	coiled-coil domain containing 68	Broad expression in placenta (RPKM 6.2), small intestine (RPKM 5.9) and 20 other tissues
CCDC69	chr5	151181052	151224145	-	ENSG00000198624.12	protein_coding	-	5q33.1	coiled-coil domain containing 69	-
CCDC7	chr10	32446140	32882874	+	ENSG00000216937.13	protein_coding	BIOT2|BioT2-A|BioT2-B|BioT2-C|C10orf68	10p11.22	coiled-coil domain containing 7	Biased expression in testis (RPKM 14.7) and thyroid (RPKM 0.4)
CCDC71	chr3	49162535	49166321	-	ENSG00000177352.9	protein_coding	-	3p21.31	coiled-coil domain containing 71	-
CCDC71L	chr7	106656765	106660996	-	ENSG00000253276.2	protein_coding	C7orf74	7q22.3	coiled-coil domain containing 71 like	-
CCDC73	chr11	32602246	32794658	-	ENSG00000186714.12	protein_coding	NY-SAR-79	11p13	coiled-coil domain containing 73	Ubiquitous expression in testis (RPKM 4.3), ovary (RPKM 3.8) and 25 other tissues
CCDC77	chr12	389273	442645	+	ENSG00000120647.9	protein_coding	-	12p13.33	coiled-coil domain containing 77	-
CCDC78	chr16	722582	726954	-	ENSG00000162004.16	protein_coding	C16orf25|CNM4|JFP10|hsCCDC78	16p13.3	coiled-coil domain containing 78	The product of this gene contains two coiled-coil domains. The function of this gene is currently unknown. [provided by RefSeq, Sep 2012]
CCDC8	chr19	46410372	46413584	-	ENSG00000169515.5	protein_coding	3M3|PPP1R20|p90	19q13.32	coiled-coil domain containing 8	This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011]
CCDC80	chr3	112596794	112649530	-	ENSG00000091986.15	protein_coding	CL2|DRO1|LINC01279|SSG1|URB|okuribin	3q13.2	coiled-coil domain containing 80	Predicted to enable glycosaminoglycan binding activity. Predicted to act upstream of or within extracellular matrix organization; positive regulation of cell-substrate adhesion; and response to bacterium. Predicted to be located in extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022]
CCDC81	chr11	86374736	86423109	+	ENSG00000149201.9	protein_coding	-	11q14.2	coiled-coil domain containing 81	-
CCDC82	chr11	96352769	96389923	-	ENSG00000149231.11	protein_coding	HSPC048	11q21	coiled-coil domain containing 82	Ubiquitous expression in testis (RPKM 4.8), brain (RPKM 4.4) and 25 other tissues
CCDC83	chr11	85855101	85920021	+	ENSG00000150676.12	protein_coding	CT148|HSD9|KP-CoT-23	11q14.1-q14.2	coiled-coil domain containing 83	Restricted expression toward testis (RPKM 12.4)
CCDC85A	chr2	56184123	56386173	+	ENSG00000055813.5	protein_coding	-	2p16.1	coiled-coil domain containing 85A	-
CCDC85B	chr11	65890112	65891635	+	ENSG00000175602.3	protein_coding	DIPA	11q13.1	coiled-coil domain containing 85B	Hepatitis delta virus (HDV) is a pathogenic human virus whose RNA genome and replication cycle resemble those of plant viroids. Delta-interacting protein A (DIPA), a cellular gene product, has been found to have homology to hepatitis delta virus antigen (HDAg). DIPA interacts with the viral antigen, HDAg, and can affect HDV replication in vitro. [provided by RefSeq, Jul 2008]
CCDC85C	chr14	99500180	99604026	-	ENSG00000205476.8	protein_coding	-	14q32.2	coiled-coil domain containing 85C	-
CCDC86	chr11	60842071	60851081	+	ENSG00000110104.11	protein_coding	-	11q12.2	coiled-coil domain containing 86	-
CCDC87	chr11	66590176	66593083	-	ENSG00000182791.4	protein_coding	-	11q13.2	coiled-coil domain containing 87	-
CCDC88A	chr2	55287842	55419921	-	ENSG00000115355.15	protein_coding	APE|GIRDIN|GIV|GRDN|HkRP1|KIAA1212|PEHO|PEHOL	2p16.1	coiled-coil domain containing 88A	This gene encodes a member of the Girdin family of coiled-coil domain containing proteins. The encoded protein is an actin-binding protein that is activated by the serine/threonine kinase Akt and plays a role in cytoskeleton remodeling and cell migration. The encoded protein also enhances Akt signaling by mediating phosphoinositide 3-kinase (PI3K)-dependent activation of Akt by growth factor receptor tyrosine kinases and G protein-coupled receptors. Increased expression of this gene and phosphorylation of the encoded protein may play a role in cancer metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
CCDC88B	chr11	64340223	64357534	+	ENSG00000168071.21	protein_coding	BRLZ|CCDC88|HKRP3|gipie	11q13.1	coiled-coil domain containing 88B	This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involved in linking organelles to microtubules. [provided by RefSeq, Oct 2009]
CCDC88C	chr14	91271323	91417844	-	ENSG00000015133.18	protein_coding	DAPLE|HKRP2|HYC1|KIAA1509|SCA40	14q32.11-q32.12	coiled-coil domain containing 88C	This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013]
CCDC89	chr11	85684866	85686277	-	ENSG00000179071.4	protein_coding	-	11q14.1	coiled-coil domain containing 89	-
CCDC9	chr19	47255980	47271953	+	ENSG00000105321.12	protein_coding	-	19q13.32	coiled-coil domain containing 9	-
CCDC90B	chr11	83259097	83286407	-	ENSG00000137500.9	protein_coding	MDS011|MDS025	11q14.1	coiled-coil domain containing 90B	Ubiquitous expression in testis (RPKM 14.9), adrenal (RPKM 10.5) and 25 other tissues
CCDC91	chr12	28133249	28581511	+	ENSG00000123106.10	protein_coding	HSD8|p56	12p11.22	coiled-coil domain containing 91	Broad expression in testis (RPKM 18.7), thyroid (RPKM 8.5) and 25 other tissues
CCDC92	chr12	123918660	123972831	-	ENSG00000119242.8	protein_coding	-	12q24.31	coiled-coil domain containing 92	-
CCDC93	chr2	117915478	118014133	-	ENSG00000125633.10	protein_coding	-	2q14.1	coiled-coil domain containing 93	-
CCDC96	chr4	7040849	7042939	-	ENSG00000173013.5	protein_coding	-	4p16.1	coiled-coil domain containing 96	-
CCDC97	chr19	41310189	41324883	+	ENSG00000142039.3	protein_coding	-	19q13.2	coiled-coil domain containing 97	-
CCDC9B	chr15	 40331452	40340939	-	ENSG00000188549	protein-coding	C15orf52	15q15.1	coiled-coil domain containing 9B	Broad expression in thyroid (RPKM 12.1), heart (RPKM 11.6) and 24 other tissues
CCER2	chr19	38908980	38912158	-	ENSG00000262484.1	protein_coding	-	19q13.2	coiled-coil glutamate rich protein 2	-
CCHCR1	chr6	31142439	31158238	-	ENSG00000204536.13	protein_coding	C6orf18|HCR|SBP|pg8	6p21.33	coiled-coil alpha-helical rod protein 1	This gene encodes a protein with five coiled-coil alpha-helical rod domains that is thought to act as a regulator of mRNA metabolism through its interaction with mRNA-decapping protein 4. It localizes to P-bodies, the site of mRNA metabolism, with an N-terminus that is required for this subcellular localization, suggesting it is a P-body component. Naturally occurring mutations in this gene are associated with psoriasis. [provided by RefSeq, May 2017]
CCK	chr3	42257825	42266207	-	ENSG00000187094.11	protein_coding	-	3p22.1	cholecystokinin	Biased expression in duodenum (RPKM 21.7), brain (RPKM 20.3) and 2 other tissues
CCKAR	chr4	26481400	26490462	-	ENSG00000163394.5	protein_coding	CCK-A|CCK1-R|CCK1R|CCKRA	4p15.2	cholecystokinin A receptor	This gene encodes a G-protein coupled receptor that binds non-sulfated members of the cholecystokinin (CCK) family of peptide hormones. This receptor is a major physiologic mediator of pancreatic enzyme secretion and smooth muscle contraction of the gallbladder and stomach. In the central and peripheral nervous system this receptor regulates satiety and the release of beta-endorphin and dopamine. [provided by RefSeq, Jul 2008]
CCL1	chr17	34360328	34363231	-	ENSG00000108702.3	protein_coding	I-309|P500|SCYA1|SISe|TCA3	17q12	C-C motif chemokine ligand 1	This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, is secreted by activated T cells and displays chemotactic activity for monocytes but not for neutrophils. It binds to the chemokine (C-C motif) receptor 8. [provided by RefSeq, Sep 2014]
CCL13	chr17	34356452	34358610	+	ENSG00000181374.7	protein_coding	CKb10|MCP-4|NCC-1|NCC1|SCYA13|SCYL1	17q12	C-C motif chemokine ligand 13	This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, lymphocytes, basophils and eosinophils, but not neutrophils. This chemokine plays a role in accumulation of leukocytes during inflammation. It may also be involved in the recruitment of monocytes into the arterial wall during artherosclerosis. [provided by RefSeq, Sep 2014]
CCL15	chr17	35996440	36002038	-	ENSG00000275718.1	protein_coding	HCC-2|HMRP-2B|LKN-1|LKN1|MIP-1 delta|MIP-1D|MIP-5|MRP-2B|NCC-3|NCC3|SCYA15|SCYL3|SY15	17q12	C-C motif chemokine ligand 15	This gene is located in a cluster of similar genes in the same region of chromosome 17. These genes encode CC cytokines, which are secreted proteins characterized by two adjacent cysteines. The product of this gene is chemotactic for T cells and monocytes, and acts through C-C chemokine receptor type 1 (CCR1). The proprotein is further processed into numerous smaller functional peptides. Naturally-occurring readthrough transcripts occur from this gene into the downstream gene, CCL14 (chemokine (C-C motif) ligand 14). [provided by RefSeq, Jan 2013]
CCL16	chr17	35976493	35981496	-	ENSG00000275152.4	protein_coding	CKb12|HCC-4|ILINCK|LCC-1|LEC|LMC|Mtn-1|NCC-4|NCC4|SCYA16|SCYL4	17q12	C-C motif chemokine ligand 16	This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for lymphocytes and monocytes but not for neutrophils. This cytokine also shows a potent myelosuppressive activity and suppresses proliferation of myeloid progenitor cells. The expression of this gene is upregulated by IL-10. [provided by RefSeq, Jul 2008]
CCL17	chr16	57404767	57416062	+	ENSG00000102970.10	protein_coding	A-152E5.3|ABCD-2|SCYA17|TARC	16q21	C-C motif chemokine ligand 17	This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for T lymphocytes, but not monocytes or granulocytes. The product of this gene binds to chemokine receptors CCR4 and CCR8. This chemokine plays important roles in T cell development in thymus as well as in trafficking and activation of mature T cells. [provided by RefSeq, Sep 2014]
CCL2	chr17	34255218	34257203	+	ENSG00000108691.9	protein_coding	GDCF-2|HC11|HSMCR30|MCAF|MCP-1|MCP1|SCYA2|SMC-CF	17q12	C-C motif chemokine ligand 2	This gene is one of several cytokine genes clustered on the q-arm of chromosome 17. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and basophils but not for neutrophils or eosinophils. It has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, like psoriasis, rheumatoid arthritis and atherosclerosis. It binds to chemokine receptors CCR2 and CCR4. Elevated expression of the encoded protein is associated with severe acute respiratory syndrome coronavirus 2 (SARS&#8208;CoV&#8208;2) infection. [provided by RefSeq, Aug 2020]
CCL20	chr2	227813842	227817564	+	ENSG00000115009.11	protein_coding	CKb4|Exodus|LARC|MIP-3-alpha|MIP-3a|MIP3A|SCYA20|ST38	2q36.3	C-C motif chemokine ligand 20	This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene displays chemotactic activity for lymphocytes and can repress proliferation of myeloid progenitors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
CCL21	chr9	34709005	34710124	-	ENSG00000137077.7	protein_coding	6Ckine|CKb9|ECL|SCYA21|SLC|TCA4	9p13.3	C-C motif chemokine ligand 21	This antimicrobial gene is one of several CC cytokine genes clustered on the p-arm of chromosome 9. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. Similar to other chemokines the protein encoded by this gene inhibits hemopoiesis and stimulates chemotaxis. This protein is chemotactic in vitro for thymocytes and activated T cells, but not for B cells, macrophages, or neutrophils. The cytokine encoded by this gene may also play a role in mediating homing of lymphocytes to secondary lymphoid organs. It is a high affinity functional ligand for chemokine receptor 7 that is expressed on T and B lymphocytes and a known receptor for another member of the cytokine family (small inducible cytokine A19). [provided by RefSeq, Sep 2014]
CCL22	chr16	57358772	57366190	+	ENSG00000102962.4	protein_coding	A-152E5.1|ABCD-1|DC/B-CK|MDC|SCYA22|STCP-1	16q21	C-C motif chemokine ligand 22	This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 16. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for monocytes, dendritic cells, natural killer cells and for chronically activated T lymphocytes. It also displays a mild activity for primary activated T lymphocytes and has no chemoattractant activity for neutrophils, eosinophils and resting T lymphocytes. The product of this gene binds to chemokine receptor CCR4. This chemokine may play a role in the trafficking of activated T lymphocytes to inflammatory sites and other aspects of activated T lymphocyte physiology. [provided by RefSeq, Sep 2014]
CCL24	chr7	75811665	75823356	-	ENSG00000106178.6	protein_coding	Ckb-6|MPIF-2|MPIF2|SCYA24	7q11.23	C-C motif chemokine ligand 24	This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity on resting T lymphocytes, a minimal activity on neutrophils, and is negative on monocytes and activated T lymphocytes. This protein also has antimicrobial activity, displaying an antibacterial effect on S. pneumoniae, S. aureus, Non-typeable H. influenzae, and P. aeruginosa. Finally, the protein is a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. [provided by RefSeq, Jul 2020]
CCL25	chr19	8052767	8062650	+	ENSG00000131142.13	protein_coding	Ck beta-15|Ckb15|SCYA25|TECK	19p13.2	C-C motif chemokine ligand 25	This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for dendritic cells, thymocytes, and activated macrophages but is inactive on peripheral blood lymphocytes and neutrophils. The product of this gene binds to chemokine receptor CCR9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
CCL26	chr7	75769533	75789896	-	ENSG00000006606.8	protein_coding	IMAC|MIP-4a|MIP-4alpha|SCYA26|TSC-1	7q11.23	C-C motif chemokine ligand 26	This gene is one of two Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 7. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for normal peripheral blood eosinophils and basophils. This protein also has antimicrobial activity, displaying an antibacterial effect on S. pneumoniae, S. aureus, Non-typeable H. influenzae, and P. aeruginosa. The product of this gene is one of three related chemokines that specifically activate chemokine receptor CCR3. This chemokine may contribute to the eosinophil accumulation in atopic diseases. [provided by RefSeq, Jul 2020]
CCL28	chr5	43376645	43412391	-	ENSG00000151882.11	protein_coding	CCK1|MEC|SCYA28	5p12	C-C motif chemokine ligand 28	This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for resting CD4 or CD8 T cells and eosinophils. The product of this gene binds to chemokine receptors CCR3 and CCR10. This chemokine may play a role in the physiology of extracutaneous epithelial tissues, including diverse mucosal organs. Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
CCL3L1	chr17	 250577	252466	-	-	protein-coding	464.2|D17S1718|G0S19-2|LD78|LD78-beta(1-70)|LD78BETA|MIP1AP|SCYA3L|SCYA3L1	17q21.1	C-C motif chemokine ligand 3 like 1	This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this gene binds to several chemokine receptors, including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals, where most individuals have one to six copies, and a minority of individuals have zero or more than six copies. There are conflicting reports about copy number variation of this gene and its correlation to disease susceptibility. This record represents one of two copies that are present on the ALT_REF_LOCI_2 alternate haplotype of the GRCh38 human reference genome assembly. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]
CCL3L3	chr17	36194869	36196758	-	ENSG00000276085.1	protein_coding	464.2|D17S1718|G0S19-2|LD78|LD78BETA|SCYA3L|SCYA3L1	17q12	C-C motif chemokine ligand 3 like 3	This gene is one of several cytokine genes that are clustered on the q-arm of chromosome 17. Cytokines are a family of secreted proteins that function in inflammatory and immunoregulatory processes. The protein encoded by this gene binds to several chemokine receptors, including chemokine binding protein 2 and chemokine (C-C motif) receptor 5 (CCR5). CCR5 is a co-receptor for HIV, and binding of this protein to CCR5 inhibits HIV entry. The copy number of this gene varies among individuals, where most individuals have one to six copies, and a minority of individuals have zero or more than six copies. There are conflicting reports about copy number variation of this gene and its correlation to disease susceptibility.[provided by RefSeq, Apr 2014]
CCL4	chr17	36103590	36105621	+	ENSG00000275302.1	protein_coding	ACT2|AT744.1|G-26|HC21|LAG-1|LAG1|MIP-1-beta|MIP1B|MIP1B1|SCYA2|SCYA4	17q12	C-C motif chemokine ligand 4	The protein encoded by this gene is a mitogen-inducible monokine and is one of the major HIV-suppressive factors produced by CD8+ T-cells. The encoded protein is secreted and has chemokinetic and inflammatory functions. [provided by RefSeq, Dec 2012]
CCL5	chr17	35871491	35880793	-	ENSG00000271503.5	protein_coding	D17S136E|RANTES|SCYA5|SIS-delta|SISd|TCP228|eoCP	17q12	C-C motif chemokine ligand 5	This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, functions as a chemoattractant for blood monocytes, memory T helper cells and eosinophils. It causes the release of histamine from basophils and activates eosinophils. This cytokine is one of the major HIV-suppressive factors produced by CD8+ cells. It functions as one of the natural ligands for the chemokine receptor chemokine (C-C motif) receptor 5 (CCR5), and it suppresses in vitro replication of the R5 strains of HIV-1, which use CCR5 as a coreceptor. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]
CCM2	chr7	44999475	45076469	+	ENSG00000136280.15	protein_coding	C7orf22|OSM|PP10187	7p13	CCM2 scaffold protein	This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]
CCM2L	chr20	32010450	32032180	+	ENSG00000101331.15	protein_coding	C20orf160|dJ310O13.5	20q11.21	CCM2 like scaffold protein	Biased expression in spleen (RPKM 38.8), fat (RPKM 5.9) and 2 other tissues
CCN1	chr1	 85580761	85583950	+	ENSG00000142871	protein-coding	CYR61|GIG1|IGFBP10	1p22.3	cellular communication network factor 1	The secreted protein encoded by this gene is growth factor-inducible and promotes the adhesion of endothelial cells. The encoded protein interacts with several integrins and with heparan sulfate proteoglycan. This protein also plays a role in cell proliferation, differentiation, angiogenesis, apoptosis, and extracellular matrix formation. [provided by RefSeq, Sep 2011]
CCN2	chr6	 131948176	131951372	-	ENSG00000118523	protein-coding	CTGF|HCS24|IGFBP8|NOV2	6q23.2	cellular communication network factor 2	The protein encoded by this gene is a mitogen that is secreted by vascular endothelial cells. The encoded protein plays a role in chondrocyte proliferation and differentiation, cell adhesion in many cell types, and is related to platelet-derived growth factor. Certain polymorphisms in this gene have been linked with a higher incidence of systemic sclerosis. [provided by RefSeq, Nov 2009]
CCN3	chr8	 119416446	119424434	+	ENSG00000136999	protein-coding	IBP-9|IGFBP-9|IGFBP9|NOV|NOVh	8q24.12	cellular communication network factor 3	The protein encoded by this gene is a small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development. [provided by RefSeq, Feb 2009]
CCN4	chr8	 133191039	133231690	+	ENSG00000104415	protein-coding	WISP1|WISP1-OT1|WISP1-UT1|WISP1c|WISP1i|WISP1tc	8q24.22	cellular communication network factor 4	This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011]
CCNA1	chr13	36431520	36442882	+	ENSG00000133101.9	protein_coding	CT146	13q13.3	cyclin A1	The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. The cyclin encoded by this gene was shown to be expressed in testis and brain, as well as in several leukemic cell lines, and is thought to primarily function in the control of the germline meiotic cell cycle. This cyclin binds both CDK2 and CDC2 kinases, which give two distinct kinase activities, one appearing in S phase, the other in G2, and thus regulate separate functions in cell cycle. This cyclin was found to bind to important cell cycle regulators, such as Rb family proteins, transcription factor E2F-1, and the p21 family proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
CCNA2	chr4	121816444	121823933	-	ENSG00000145386.9	protein_coding	CCN1|CCNA	4q27	cyclin A2	The protein encoded by this gene belongs to the highly conserved cyclin family, whose members function as regulators of the cell cycle. This protein binds and activates cyclin-dependent kinase 2 and thus promotes transition through G1/S and G2/M. [provided by RefSeq, Aug 2016]
CCNB1	chr5	69167010	69178245	+	ENSG00000134057.14	protein_coding	CCNB	5q13.2	cyclin B1	The protein encoded by this gene is a regulatory protein involved in mitosis. The gene product complexes with p34(cdc2) to form the maturation-promoting factor (MPF). The encoded protein is necessary for proper control of the G2/M transition phase of the cell cycle. [provided by RefSeq, Aug 2017]
CCNB1IP1	chr14	20311368	20333312	-	ENSG00000100814.17	protein_coding	C14orf18|HEI10	14q11.2	cyclin B1 interacting protein 1	HEI10 is a member of the E3 ubiquitin ligase family and functions in progression of the cell cycle through G(2)/M.[supplied by OMIM, Apr 2004]
CCNB2	chr15	59105078	59125045	+	ENSG00000157456.7	protein_coding	HsT17299	15q22.2	cyclin B2	Cyclin B2 is a member of the cyclin family, specifically the B-type cyclins. The B-type cyclins, B1 and B2, associate with p34cdc2 and are essential components of the cell cycle regulatory machinery. B1 and B2 differ in their subcellular localization. Cyclin B1 co-localizes with microtubules, whereas cyclin B2 is primarily associated with the Golgi region. Cyclin B2 also binds to transforming growth factor beta RII and thus cyclin B2/cdc2 may play a key role in transforming growth factor beta-mediated cell cycle control. [provided by RefSeq, Jul 2008]
CCNC	chr6	99542380	99568973	-	ENSG00000112237.12	protein_coding	CycC|SRB11|hSRB11	6q16.2	cyclin C	The protein encoded by this gene is a member of the cyclin family of proteins. The encoded protein interacts with cyclin-dependent kinase 8 and induces the phophorylation of the carboxy-terminal domain of the large subunit of RNA polymerase II. The level of mRNAs for this gene peaks in the G1 phase of the cell cycle. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
CCND1	chr11	69641087	69654474	+	ENSG00000110092.3	protein_coding	BCL1|D11S287E|PRAD1|U21B31	11q13.3	cyclin D1	The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of human cancers. [provided by RefSeq, Dec 2019]
CCND2	chr12	4273772	4305350	+	ENSG00000118971.7	protein_coding	KIAK0002|MPPH3	12p13.32	cyclin D2	The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK4 or CDK6 and functions as a regulatory subunit of the complex, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous gene in mouse suggest the essential roles of this gene in ovarian granulosa and germ cell proliferation. High level expression of this gene was observed in ovarian and testicular tumors. Mutations in this gene are associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3). [provided by RefSeq, Sep 2014]
CCND2-AS1	chr12	4248765	4276184	-	ENSG00000256164.1	antisense	CCND2-AS2	12p13.32	CCND2 antisense RNA 1	Ubiquitous expression in adrenal (RPKM 4.8), brain (RPKM 4.4) and 25 other tissues
CCND3	chr6	41934933	42050357	-	ENSG00000112576.12	protein_coding	-	6p21.1	cyclin D3	Broad expression in bone marrow (RPKM 45.2), lymph node (RPKM 40.1) and 24 other tissues
CCNDBP1	chr15	43185118	43197176	+	ENSG00000166946.13	protein_coding	DIP1|GCIP|HHM	15q15.2	cyclin D1 binding protein 1	This gene was identified by the interaction of its gene product with Grap2, a leukocyte-specific adaptor protein important for immune cell signaling. The protein encoded by this gene was shown to interact with cyclin D. Transfection of this gene in cells was reported to reduce the phosphorylation of Rb gene product by cyclin D-dependent protein kinase, and inhibit E2F1-mediated transcription activity. This protein was also found to interact with helix-loop-helix protein E12 and is thought to be a negative regulator of liver-specific gene expression. Several alternatively spliced variants have been found for this gene. [provided by RefSeq, Apr 2009]
CCNE1	chr19	29811898	29824308	+	ENSG00000105173.13	protein_coding	CCNE|pCCNE1	19q12	cyclin E1	The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2, whose activity is required for cell cycle G1/S transition. This protein accumulates at the G1-S phase boundary and is degraded as cells progress through S phase. Overexpression of this gene has been observed in many tumors, which results in chromosome instability, and thus may contribute to tumorigenesis. This protein was found to associate with, and be involved in, the phosphorylation of NPAT protein (nuclear protein mapped to the ATM locus), which participates in cell-cycle regulated histone gene expression and plays a critical role in promoting cell-cycle progression in the absence of pRB. [provided by RefSeq, Apr 2016]
CCNE2	chr8	94879770	94896678	-	ENSG00000175305.17	protein_coding	CYCE2	8q22.1	cyclin E2	The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK2. This cyclin has been shown to specifically interact with CIP/KIP family of CDK inhibitors, and plays a role in cell cycle G1/S transition. The expression of this gene peaks at the G1-S phase and exhibits a pattern of tissue specificity distinct from that of cyclin E1. A significantly increased expression level of this gene was observed in tumor-derived cells. [provided by RefSeq, Jul 2008]
CCNF	chr16	2429394	2458854	+	ENSG00000162063.12	protein_coding	FBX1|FBXO1|FTDALS5	16p13.3	cyclin F	This gene encodes a member of the cyclin family. Cyclins are important regulators of cell cycle transitions through their ability to bind and activate cyclin-dependent protein kinases. This member also belongs to the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it was one of the first proteins in which the F-box motif was identified. [provided by RefSeq, Jul 2008]
CCNG2	chr4	77157151	77433388	+	ENSG00000138764.14	protein_coding	-	4q21.1	cyclin G2	Ubiquitous expression in esophagus (RPKM 25.3), prostate (RPKM 20.5) and 24 other tissues
CCNH	chr5	87391494	87413019	-	ENSG00000134480.13	protein_coding	CAK|CycH|p34|p37	5q14.3	cyclin H	The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK7 kinase and ring finger protein MAT1. The kinase complex is able to phosphorylate CDK2 and CDC2 kinases, thus functions as a CDK-activating kinase (CAK). This cyclin and its kinase partner are components of TFIIH, as well as RNA polymerase II protein complexes. They participate in two different transcriptional regulation processes, suggesting an important link between basal transcription control and the cell cycle machinery. A pseudogene of this gene is found on chromosome 4. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Nov 2010]
CCNI	chr4	77047158	77076005	-	ENSG00000118816.9	protein_coding	CCNI1|CYC1|CYI	4q21.1	cyclin I	The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin shows the highest similarity with cyclin G. The transcript of this gene was found to be expressed constantly during cell cycle progression. [provided by RefSeq, Jan 2017]
CCNI2	chr5	132747445	132754403	+	ENSG00000205089.7	protein_coding	-	5q31.1	cyclin I family member 2	-
CCNJ	chr10	96043394	96060870	+	ENSG00000107443.15	protein_coding	bA690P14.1	10q24.1	cyclin J	Ubiquitous expression in bone marrow (RPKM 3.4), testis (RPKM 2.6) and 25 other tissues
CCNJL	chr5	160251652	160345396	-	ENSG00000135083.14	protein_coding	-	5q33.3	cyclin J like	-
CCNK	chr14	99481169	99535044	+	ENSG00000090061.17	protein_coding	CPR4|IDDHDF	14q32.2	cyclin K	The protein encoded by this gene is a member of the transcription cyclin family. These cyclins may regulate transcription through their association with and activation of cyclin-dependent kinases (CDK) that phosphorylate the C-terminal domain (CTD) of the large subunit of RNA polymerase II. This gene product may play a dual role in regulating CDK and RNA polymerase II activities. [provided by RefSeq, Jul 2008]
CCNL1	chr3	157146508	157160760	-	ENSG00000163660.11	protein_coding	ANIA6A|BM-001|PRO1073|ania-6a	3q25.31	cyclin L1	Broad expression in bone marrow (RPKM 197.4), appendix (RPKM 28.6) and 17 other tissues
CCNL2	chr1	1385711	1399328	-	ENSG00000221978.11	protein_coding	ANIA-6B|CCNM|CCNS|HCLA-ISO|HLA-ISO|PCEE|SB138	1p36.33	cyclin L2	The protein encoded by this gene belongs to the cyclin family. Through its interaction with several proteins, such as RNA polymerase II, splicing factors, and cyclin-dependent kinases, this protein functions as a regulator of the pre-mRNA splicing process, as well as in inducing apoptosis by modulating the expression of apoptotic and antiapoptotic proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
CCNO	chr5	55231152	55233680	-	ENSG00000152669.8	protein_coding	CCNU|CILD29|UDG2	5q11.2	cyclin O	This gene encodes a member of the cyclin protein family, and the encoded protein is involved in regulation of the cell cycle. Disruption of this gene is associated with primary ciliary dyskinesia-19. Alternative splicing results in multiple transcript variants. This gene, which has a previous symbol of UNG2, was erroneously identified as a uracil DNA glycosylase in PubMed ID: 2001396. A later publication, PubMed ID: 8419333, identified this genes product as a cyclin protein family member. The UNG2 symbol is also used as a specific protein isoform name for the UNG gene (GeneID 7374), so confusion exists in the scientific literature and in some databases for these two genes. [provided by RefSeq, Jul 2014]
CCNP	chr19	 40222208	40226689	-	ENSG00000105219	protein-coding	CNTD2	19q13.2	cyclin P	-
CCNQP3	chr13	 19382259	19383308	+	-	pseudogene	FAM58DP	13q12.11	CCNQ pseudogene 3	-
CCNT1	chr12	48688458	48716998	-	ENSG00000129315.10	protein_coding	CCNT|CYCT1|HIVE1	12q13.11-q13.12	cyclin T1	This gene encodes a member of the highly conserved cyclin C subfamily. The encoded protein tightly associates with cyclin-dependent kinase 9, and is a major subunit of positive transcription elongation factor b (p-TEFb). In humans, there are multiple forms of positive transcription elongation factor b, which may include one of several different cyclins along with cyclin-dependent kinase 9. The complex containing the encoded cyclin and cyclin-dependent kinase 9 acts as a cofactor of human immunodeficiency virus type 1 (HIV-1) Tat protein, and is both necessary and sufficient for full activation of viral transcription. This cyclin and its kinase partner are also involved in triggering transcript elongation through phosphorylation of the carboxy-terminal domain of the largest RNA polymerase II subunit. Overexpression of this gene is implicated in tumor growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
CCNT2	chr2	134918235	134959342	+	ENSG00000082258.12	protein_coding	CYCT2	2q21.3	cyclin T2	The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin and its kinase partner CDK9 were found to be subunits of the transcription elongation factor p-TEFb. The p-TEFb complex containing this cyclin was reported to interact with, and act as a negative regulator of human immunodeficiency virus type 1 (HIV-1) Tat protein. A pseudogene of this gene is found on chromosome 1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]
CCNT2-AS1	chr2	134735464	134918710	-	ENSG00000224043.7	antisense	-	2q21.3	CCNT2 antisense RNA 1	-
CCNY	chr10	35247025	35572669	+	ENSG00000108100.17	protein_coding	C10orf9|CBCP1|CCNX|CFP1	10p11.21	cyclin Y	Cyclins, such as CCNY, control cell division cycles and regulate cyclin-dependent kinases (e.g., CDC2; MIM 116940) (Li et al., 2009 [PubMed 18060517]).[supplied by OMIM, May 2009]
CCNYL1	chr2	207711540	207761839	+	ENSG00000163249.11	protein_coding	-	2q33.3	cyclin Y like 1	-
CCPG1	chr15	55340032	55408510	-	ENSG00000260916.7	protein_coding	CPR8	15q21.3	cell cycle progression 1	Ubiquitous expression in thyroid (RPKM 34.7), gall bladder (RPKM 22.2) and 25 other tissues
CCR1	chr3	46201709	46208396	-	ENSG00000163823.3	protein_coding	CD191|CKR-1|CKR1|CMKBR1|HM145|MIP1aR|SCYAR1	3p21.31	C-C motif chemokine receptor 1	This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The ligands of this receptor include macrophage inflammatory protein 1 alpha (MIP-1 alpha), regulated on activation normal T expressed and secreted protein (RANTES), monocyte chemoattractant protein 3 (MCP-3), and myeloid progenitor inhibitory factor-1 (MPIF-1). Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. Knockout studies of the mouse homolog suggested the roles of this gene in host protection from inflammatory response, and susceptibility to virus and parasite. This gene and other chemokine receptor genes, including CCR2, CCRL2, CCR3, CCR5 and CCXCR1, are found to form a gene cluster on chromosome 3p. [provided by RefSeq, Jul 2008]
CCR10	chr17	42678889	42683917	-	ENSG00000184451.5	protein_coding	GPR2	17q21.2	C-C motif chemokine receptor 10	Chemokines are a group of small (approximately 8 to 14 kD), mostly basic, structurally related molecules that regulate cell trafficking of various types of leukocytes through interactions with a subset of 7-transmembrane, G protein-coupled receptors. Chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. Chemokines are divided into 2 major subfamilies, CXC and CC, based on the arrangement of the first 2 of the 4 conserved cysteine residues; the 2 cysteines are separated by a single amino acid in CXC chemokines and are adjacent in CC chemokines. CCR10 is the receptor for CCL27 (SCYA27; MIM 604833); CCR10-CCL27 interactions are involved in T cell-mediated skin inflammation (Homey et al., 2002 [PubMed 11821900]).[supplied by OMIM, Mar 2008]
CCR12P	chr13	99407781	99409062	-	ENSG00000238241.1	processed_pseudogene	GPR183P1	13q32.3	C-C motif chemokine receptor 12, pseudogene	-
CCR2	chr3	46353734	46360928	+	ENSG00000121807.5	protein_coding	CC-CKR-2|CCR-2|CCR2A|CCR2B|CD192|CKR2|CKR2A|CKR2B|CMKBR2|MCP-1-R	3p21.31	C-C motif chemokine receptor 2	The protein encoded by this gene is a receptor for monocyte chemoattractant protein-1, a chemokine which specifically mediates monocyte chemotaxis. Monocyte chemoattractant protein-1 is involved in monocyte infiltration in inflammatory diseases such as rheumatoid arthritis as well as in the inflammatory response against tumors. The encoded protein mediates agonist-dependent calcium mobilization and inhibition of adenylyl cyclase. This protein can also be a coreceptor with CD4 for HIV-1 infection. This gene is located in the chemokine receptor gene cluster region of chromosome 3. [provided by RefSeq, Aug 2017]
CCR3	chr3	46163604	46266706	+	ENSG00000183625.14	protein_coding	C C CKR3|CC-CKR-3|CD193|CKR 3|CKR3|CMKBR3	3p21.31	C-C motif chemokine receptor 3	The protein encoded by this gene is a receptor for C-C type chemokines. It belongs to family 1 of the G protein-coupled receptors. This receptor binds and responds to a variety of chemokines, including eotaxin (CCL11), eotaxin-3 (CCL26), MCP-3 (CCL7), MCP-4 (CCL13), and RANTES (CCL5). It is highly expressed in eosinophils and basophils, and is also detected in TH1 and TH2 cells, as well as in airway epithelial cells. This receptor may contribute to the accumulation and activation of eosinophils and other inflammatory cells in the allergic airway. It is also known to be an entry co-receptor for HIV-1. This gene and seven other chemokine receptor genes form a chemokine receptor gene cluster on the chromosomal region 3p21. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2009]
CCR4	chr3	32951574	32956349	+	ENSG00000183813.6	protein_coding	CC-CKR-4|CD194|CKR4|CMKBR4|ChemR13|HGCN:14099|K5-5	3p22.3	C-C motif chemokine receptor 4	The protein encoded by this gene belongs to the G-protein-coupled receptor family . It is a receptor for the CC chemokine - MIP-1, RANTES, TARC and MCP-1. Chemokines are a group of small polypeptide, structurally related molecules that regulate cell trafficking of various types of leukocytes. The chemokines also play fundamental roles in the development, homeostasis, and function of the immune system, and they have effects on cells of the central nervous system as well as on endothelial cells involved in angiogenesis or angiostasis. [provided by RefSeq, Jul 2008]
CCR5	chr3	46370854	46376206	+	ENSG00000160791.13	protein_coding	CC-CKR-5|CCCKR5|CCR-5|CD195|CKR-5|CKR5|CMKBR5|IDDM22	3p21.31	C-C motif chemokine receptor 5	This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. This protein is expressed by T cells and macrophages, and is known to be an important co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective alleles of this gene have been associated with the HIV infection resistance. The ligands of this receptor include monocyte chemoattractant protein 2 (MCP-2), macrophage inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory protein 1 beta (MIP-1 beta) and regulated on activation normal T expressed and secreted protein (RANTES). Expression of this gene was also detected in a promyeloblastic cell line, suggesting that this protein may play a role in granulocyte lineage proliferation and differentiation. This gene is located at the chemokine receptor gene cluster region. An allelic polymorphism in this gene results in both functional and non-functional alleles; the reference genome represents the functional allele. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2015]
CCR6	chr6	167111807	167139696	+	ENSG00000112486.15	protein_coding	BN-1|C-C CKR-6|CC-CKR-6|CCR-6|CD196|CKR-L3|CKRL3|CMKBR6|DCR2|DRY6|GPR29|GPRCY4|STRL22	6q27	C-C motif chemokine receptor 6	This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The gene is preferentially expressed by immature dendritic cells and memory T cells. The ligand of this receptor is macrophage inflammatory protein 3 alpha (MIP-3 alpha). This receptor has been shown to be important for B-lineage maturation and antigen-driven B-cell differentiation, and it may regulate the migration and recruitment of dentritic and T cells during inflammatory and immunological responses. Alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
CCR7	chr17	40553769	40565472	-	ENSG00000126353.3	protein_coding	BLR2|CC-CKR-7|CCR-7|CD197|CDw197|CMKBR7|EBI1	17q21.2	C-C motif chemokine receptor 7	The protein encoded by this gene is a member of the G protein-coupled receptor family. This receptor was identified as a gene induced by the Epstein-Barr virus (EBV), and is thought to be a mediator of EBV effects on B lymphocytes. This receptor is expressed in various lymphoid tissues and activates B and T lymphocytes. It has been shown to control the migration of memory T cells to inflamed tissues, as well as stimulate dendritic cell maturation. The chemokine (C-C motif) ligand 19 (CCL19/ECL) has been reported to be a specific ligand of this receptor. Signals mediated by this receptor regulate T cell homeostasis in lymph nodes, and may also function in the activation and polarization of T cells, and in chronic inflammation pathogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
CCR8	chr3	39329706	39333511	+	ENSG00000179934.6	protein_coding	CC-CKR-8|CCR-8|CDw198|CKRL1|CMKBR8|CMKBRL2|CY6|GPRCY6|TER1	3p22.1	C-C motif chemokine receptor 8	This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptors are important for the migration of various cell types into the inflammatory sites. This receptor protein preferentially expresses in the thymus. I-309, thymus activation-regulated cytokine (TARC) and macrophage inflammatory protein-1 beta (MIP-1 beta) have been identified as ligands of this receptor. Studies of this receptor and its ligands suggested its role in regulation of monocyte chemotaxis and thymic cell apoptosis. More specifically, this receptor may contribute to the proper positioning of activated T cells within the antigenic challenge sites and specialized areas of lymphoid tissues. This gene is located at the chemokine receptor gene cluster region. [provided by RefSeq, Jul 2008]
CCR9	chr3	45886504	45903177	+	ENSG00000173585.15	protein_coding	CC-CKR-9|CDw199|GPR-9-6|GPR28	3p21.31	C-C motif chemokine receptor 9	The protein encoded by this gene is a G protein-coupled receptor with seven transmembrane domains that belongs to the beta chemokine receptor family. Chemokines and their receptors are key regulators of thymocyte migration and maturation in normal and inflammation conditions. This gene is differentially expressed in T lymphocytes of the small intestine and colon, and its interaction with chemokine 25 contributes to intestinal intra-epithelial lymphocyte homing to the small intestine. This suggests a role for this gene in directing immune responses to different segments of the gastrointestinal tract. This gene and its exclusive ligand, chemokine 25, are overexpressed in a variety of malignant tumors and are closely associated with tumor proliferation, apoptosis, invasion, migration and drug resistance. This gene maps to the chemokine receptor gene cluster. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020]
CCRL2	chr3	46407163	46412997	+	ENSG00000121797.9	protein_coding	ACKR5|CKRX|CRAM|CRAM-A|CRAM-B|HCR	3p21.31	C-C motif chemokine receptor like 2	This gene encodes a chemokine receptor like protein, which is predicted to be a seven transmembrane protein and most closely related to CCR1. Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. This gene is expressed at high levels in primary neutrophils and primary monocytes, and is further upregulated on neutrophil activation and during monocyte to macrophage differentiation. The function of this gene is unknown. This gene is mapped to the region where the chemokine receptor gene cluster is located. [provided by RefSeq, Jul 2008]
CCS	chr11	66592821	66606019	+	ENSG00000173992.8	protein_coding	-	11q13.2	copper chaperone for superoxide dismutase	Ubiquitous expression in liver (RPKM 18.8), spleen (RPKM 17.6) and 25 other tissues
CCSAP	chr1	229321005	229343294	-	ENSG00000154429.10	protein_coding	C1orf96|CSAP	1q42.13	centriole, cilia and spindle associated protein	Broad expression in brain (RPKM 20.5), placenta (RPKM 8.3) and 20 other tissues
CCT2	chr12	69585334	69601570	+	ENSG00000166226.12	protein_coding	99D8.1|CCT-beta|CCTB|HEL-S-100n|PRO1633|TCP-1-beta	12q15	chaperonin containing TCP1 subunit 2	The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
CCT3	chr1	156308968	156367873	-	ENSG00000163468.14	protein_coding	CCT-gamma|CCTG|PIG48|TCP-1-gamma|TRIC5	1q22	chaperonin containing TCP1 subunit 3	The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants have been characterized for this gene. In addition, a pseudogene of this gene has been found on chromosome 8. [provided by RefSeq, Aug 2010]
CCT4	chr2	61868089	61888804	-	ENSG00000115484.14	protein_coding	CCT-DELTA|Cctd|SRB	2p15	chaperonin containing TCP1 subunit 4	The chaperonin containing TCP1 (MIM 186980) complex (CCT), also called the TCP1 ring complex, consists of 2 back-to-back rings, each containing 8 unique but homologous subunits, such as CCT4. CCT assists the folding of newly translated polypeptide substrates through multiple rounds of ATP-driven release and rebinding of partially folded intermediate forms. Substrates of CCT include the cytoskeletal proteins actin (see MIM 102560) and tubulin (see MIM 191130), as well as alpha-transducin (MIM 139330) (Won et al., 1998 [PubMed 9819444]).[supplied by OMIM, Mar 2008]
CCT6A	chr7	56051630	56063989	+	ENSG00000146731.10	protein_coding	CCT-zeta|CCT-zeta-1|CCT6|Cctz|HTR3|MoDP-2|TCP-1-zeta|TCP20|TCPZ|TTCP20	7p11.2	chaperonin containing TCP1 subunit 6A	The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. In addition, several pseudogenes of this gene have been located. [provided by RefSeq, Jun 2010]
CCT6B	chr17	34927859	34981078	-	ENSG00000132141.13	protein_coding	CCT-zeta-2|CCTZ-2|Cctz2|TCP-1-zeta-2|TSA303	17q12	chaperonin containing TCP1 subunit 6B	This gene encodes a molecular chaperone that is a member of the chaperonin-containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
CCT6P1	chr7	65751142	65763354	+	ENSG00000228409.6	transcribed_unprocessed_pseudogene	CCT6-5P|CCT6AP1	7q11.21	chaperonin containing TCP1 subunit 6 pseudogene 1	-
CCT6P2	chr5	14639426	14641018	-	ENSG00000250526.1	processed_pseudogene	CCT6-1P	5p15.2	chaperonin containing TCP1 subunit 6 pseudogene 2	-
CCT6P3	chr7	65038354	65074713	+	ENSG00000234585.6	transcribed_unprocessed_pseudogene	CCT6-3P	7q11.21	chaperonin containing TCP1 subunit 6 pseudogene 3	Ubiquitous expression in testis (RPKM 5.5), prostate (RPKM 4.9) and 25 other tissues
CCT7	chr2	73233420	73253021	+	ENSG00000135624.15	protein_coding	CCTETA|CCTH|NIP7-1|TCP1ETA	2p13.2	chaperonin containing TCP1 subunit 7	This gene encodes a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 5 and 6. [provided by RefSeq, Oct 2009]
CCT7P2	chr5	92889387	92890840	-	ENSG00000249958.1	processed_pseudogene	CCT7-1P	5q14.3	chaperonin containing TCP1 subunit 7 pseudogene 2	-
CCT8	chr21	29055805	29073797	-	ENSG00000156261.12	protein_coding	C21orf112|Cctq|D21S246|PRED71	21q21.3	chaperonin containing TCP1 subunit 8	This gene encodes the theta subunit of the CCT chaperonin, which is abundant in the eukaryotic cytosol and may be involved in the transport and assembly of newly synthesized proteins. Alternative splicing results in multiple transcript variants of this gene. A pseudogene related to this gene is located on chromosome 1. [provided by RefSeq, Sep 2013]
CCT8P1	chr1	147203276	147204932	-	ENSG00000226015.2	processed_pseudogene	CCT8-1P	1q21.1	chaperonin containing TCP1 subunit 8 pseudogene 1	-
CCZ1	chr7	5898725	5926550	+	ENSG00000122674.11	protein_coding	C7orf28A|CCZ1A|CGI-43|H_DJ1163J12.2	7p22.1	CCZ1 homolog, vacuolar protein trafficking and biogenesis associated	Ubiquitous expression in adrenal (RPKM 39.9), urinary bladder (RPKM 31.0) and 25 other tissues
CD101	chr1	117001750	117036476	+	ENSG00000134256.12	protein_coding	EWI-101|IGSF2|V7	1p13.1	CD101 molecule	Broad expression in small intestine (RPKM 2.3), lung (RPKM 2.1) and 18 other tissues
CD109	chr6	73695785	73828316	+	ENSG00000156535.13	protein_coding	CPAMD7|p180|r150	6q13	CD109 molecule	This gene encodes a glycosyl phosphatidylinositol (GPI)-linked glycoprotein that localizes to the surface of platelets, activated T-cells, and endothelial cells. The protein binds to and negatively regulates signalling by transforming growth factor beta (TGF-beta). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
CD14	chr5	140631728	140633701	-	ENSG00000170458.13	protein_coding	-	5q31.3	CD14 molecule	Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 treatment.
CD151	chr11	832843	839831	+	ENSG00000177697.17	protein_coding	GP27|MER2|PETA-3|RAPH|SFA1|TSPAN24	11p15.5	CD151 molecule (Raph blood group)	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It is involved in cellular processes including cell adhesion and may regulate integrin trafficking and/or function. This protein enhances cell motility, invasion and metastasis of cancer cells. Multiple alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
CD160	chr1	145719471	145739288	+	ENSG00000117281.15	protein_coding	BY55|NK1|NK28	1q21.1	CD160 molecule	CD160 is an 27 kDa glycoprotein which was initially identified with the monoclonal antibody BY55. Its expression is tightly associated with peripheral blood NK cells and CD8 T lymphocytes with cytolytic effector activity. The cDNA sequence of CD160 predicts a cysteine-rich, glycosylphosphatidylinositol-anchored protein of 181 amino acids with a single Ig-like domain weakly homologous to KIR2DL4 molecule. CD160 is expressed at the cell surface as a tightly disulfide-linked multimer. RNA blot analysis revealed CD160 mRNAs of 1.5 and 1.6 kb whose expression was highly restricted to circulating NK and T cells, spleen and small intestine. Within NK cells CD160 is expressed by CD56dimCD16+ cells whereas among circulating T cells its expression is mainly restricted to TCRgd bearing cells and to TCRab+CD8brightCD95+CD56+CD28-CD27-cells. In tissues, CD160 is expressed on all intestinal intraepithelial lymphocytes. CD160 shows a broad specificity for binding to both classical and nonclassical MHC class I molecules. [provided by RefSeq, Jul 2008]
CD163L1	chr12	7346685	7479897	-	ENSG00000177675.8	protein_coding	CD163B|M160|SCARI2|STAR|WC1	12p13.31	CD163 molecule like 1	This gene encodes a member of the scavenger receptor cysteine-rich (SRCR) superfamily. Members of this family are secreted or membrane-anchored proteins mainly found in cells associated with the immune system. The SRCR family is defined by a 100-110 amino acid SRCR domain, which may mediate protein-protein interaction and ligand binding. The encoded protein contains twelve SRCR domains, a transmembrane region and a cytoplasmic domain. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
CD164	chr6	109366514	109382457	-	ENSG00000135535.15	protein_coding	DFNA66|MGC-24|MGC-24v|MUC-24|endolyn	6q21	CD164 molecule	This gene encodes a transmembrane sialomucin and cell adhesion molecule that regulates the proliferation, adhesion and migration of hematopoietic progenitor cells. The encoded protein also interacts with the C-X-C chemokine receptor type 4 and may regulate muscle development. Elevated expression of this gene has been observed in human patients with Sezary syndrome, a type of blood cancer, and a mutation in this gene may be associated with impaired hearing. [provided by RefSeq, Oct 2016]
CD164L2	chr1	27379176	27383380	-	ENSG00000174950.10	protein_coding	EAPG6122|UNQ6122	1p36.11	CD164 molecule like 2	Biased expression in skin (RPKM 3.1), esophagus (RPKM 2.8) and 5 other tissues
CD180	chr5	67179613	67196799	-	ENSG00000134061.5	protein_coding	LY64|Ly78|RP105	5q12.3	CD180 molecule	CD180 is a cell surface molecule consisting of extracellular leucine-rich repeats (LRR) and a short cytoplasmic tail. The extracellular LRR is associated with a molecule called MD-1 and form the cell surface receptor complex, RP105/MD-1. It belongs to the family of pathogen receptors, Toll-like receptors (TLR). RP105/MD1, by working in concert with TLR4, controls B cell recognition and signaling of lipopolysaccharide (LPS), a membrane constituent of Gram-negative bacteria. [provided by RefSeq, Jul 2008]
CD19	chr16	28931939	28939346	+	ENSG00000177455.12	protein_coding	B4|CVID3	16p11.2	CD19 molecule	This gene encodes a member of the immunoglobulin gene superfamily. Expression of this cell surface protein is restricted to B cell lymphocytes. This protein is a reliable marker for pre-B cells but its expression diminishes during terminal B cell differentiation in antibody secreting plasma cells. The protein has two N-terminal extracellular Ig-like domains separated by a non-Ig-like domain, a hydrophobic transmembrane domain, and a large C-terminal cytoplasmic domain. This protein forms a complex with several membrane proteins including complement receptor type 2 (CD21) and tetraspanin (CD81) and this complex reduces the threshold for antigen-initiated B cell activation. Activation of this B-cell antigen receptor complex activates the phosphatidylinositol 3-kinase signalling pathway and the subsequent release of intracellular stores of calcium ions. This protein is a target of chimeric antigen receptor (CAR) T-cells used in the treatment of lymphoblastic leukemia. Mutations in this gene are associated with the disease common variable immunodeficiency 3 (CVID3) which results in a failure of B-cell differentiation and impaired secretion of immunoglobulins. CVID3 is characterized by hypogammaglobulinemia, an inability to mount an antibody response to antigen, and recurrent bacterial infections. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]
CD1B	chr1	158327951	158331531	-	ENSG00000158485.10	protein_coding	CD1|CD1A|R1	1q23.1	CD1b molecule	This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail, and requires vesicular acidification to bind lipid antigens. [provided by RefSeq, Jul 2008]
CD1C	chr1	158289786	158293630	+	ENSG00000158481.12	protein_coding	BDCA1|CD1|CD1A|R7	1q23.1	CD1c molecule	This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene is broadly distributed throughout the endocytic system via a tyrosine-based motif in the cytoplasmic tail. Alternatively spliced transcript variants of this gene have been observed, but their full-length nature is not known. [provided by RefSeq, Jul 2008]
CD1E	chr1	158353696	158357553	+	ENSG00000158488.15	protein_coding	CD1A|R2	1q23.1	CD1e molecule	This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes within Golgi compartments, endosomes, and lysosomes, and is cleaved into a stable soluble form. The soluble form is required for the intracellular processing of some glycolipids into a form that can be presented by other CD1 family members. Many alternatively spliced transcript variants encoding different isoforms have been described. Additional transcript variants have been found; however, their biological validity has not been determined. [provided by RefSeq, Jun 2010]
CD200	chr3	112332347	112362812	+	ENSG00000091972.18	protein_coding	MOX1|MOX2|MRC|OX-2	3q13.2	CD200 molecule	This gene encodes a type I membrane glycoprotein containing two extracellular immunoglobulin domains, a transmembrane and a cytoplasmic domain. This gene is expressed by various cell types, including B cells, a subset of T cells, thymocytes, endothelial cells, and neurons. The encoded protein plays an important role in immunosuppression and regulation of anti-tumor activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
CD200R1	chr3	112921209	112975122	-	ENSG00000163606.10	protein_coding	CD200R|HCRTR2|MOX2R|OX2R	3q13.2	CD200 receptor 1	This gene encodes a receptor for the OX-2 membrane glycoprotein. Both the receptor and substrate are cell surface glycoproteins containing two immunoglobulin-like domains. This receptor is restricted to the surfaces of myeloid lineage cells and the receptor-substrate interaction may function as a myeloid downregulatory signal. Mouse studies of a related gene suggest that this interaction may control myeloid function in a tissue-specific manner. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
CD200R1L	chr3	112815709	112846856	-	ENSG00000206531.10	protein_coding	CD200R2|CD200RLa	3q13.2	CD200 receptor 1 like	Predicted to enable signaling receptor activity. Predicted to be involved in regulation of neuroinflammatory response. Predicted to be integral component of membrane. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
CD209	chr19	7739994	7747564	-	ENSG00000090659.17	protein_coding	CDSIGN|CLEC4L|DC-SIGN|DC-SIGN1|hDC-SIGN	19p13.2	CD209 molecule	This gene encodes a C-type lectin that functions in cell adhesion and pathogen recognition. This receptor recognizes a wide range of evolutionarily divergent pathogens with a large impact on public health, including leprosy and tuberculosis mycobacteria, the Ebola, hepatitis C, HIV-1 and Dengue viruses, and the SARS-CoV acute respiratory syndrome coronavirus. The protein is organized into four distinct domains: a C-terminal carbohydrate recognition domain, a flexible tandem-repeat neck domain, a transmembrane region and an N-terminal cytoplasmic domain involved in internalization. This gene is closely related in terms of both sequence and function to a neighboring gene, CLEC4M (Gene ID: 10332), also known as L-SIGN. The two genes differ in viral recognition and expression patterns, with this gene showing high expression on the surface of dendritic cells. Polymorphisms in the neck region are associated with protection from HIV-1 infection, while single nucleotide polymorphisms in the promoter of this gene are associated with differing resistance and susceptibility to and severity of infectious disease, including rs4804803, which is associated with SARS severity. [provided by RefSeq, May 2020]
CD22	chr19	35319261	35347355	+	ENSG00000012124.16	protein_coding	SIGLEC-2|SIGLEC2	19q13.12	CD22 molecule	Predicted to enable CD4 receptor binding activity; protein phosphatase binding activity; and sialic acid binding activity. Involved in B cell activation; negative regulation of B cell receptor signaling pathway; and regulation of endocytosis. Located in early endosome and recycling endosome. [provided by Alliance of Genome Resources, Apr 2022]
CD226	chr18	69831158	69961803	-	ENSG00000150637.8	protein_coding	DNAM-1|DNAM1|PTA1|TLiSA1	18q22.2	CD226 molecule	This gene encodes a glycoprotein expressed on the surface of NK cells, platelets, monocytes and a subset of T cells. It is a member of the Ig-superfamily containing 2 Ig-like domains of the V-set. The protein mediates cellular adhesion of platelets and megakaryocytic cells to vascular endothelial cells. The protein also plays a role in megakaryocytic cell maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
CD244	chr1	160830160	160862855	-	ENSG00000122223.12	protein_coding	2B4|NAIL|NKR2B4|Nmrk|SLAMF4	1q23.3	CD244 molecule	This gene encodes a cell surface receptor expressed on natural killer (NK) cells (and some T cells) that mediate non-major histocompatibility complex (MHC) restricted killing. The interaction between NK-cell and target cells via this receptor is thought to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
CD247	chr1	167430640	167518610	-	ENSG00000198821.10	protein_coding	CD3-ZETA|CD3H|CD3Q|CD3Z|IMD25|T3Z|TCRZ	1q24.2	CD247 molecule	The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
CD248	chr11	66314487	66317044	-	ENSG00000174807.3	protein_coding	CD164L1|TEM1	11q13.2	CD248 molecule	-
CD27	chr12	6444867	6451718	+	ENSG00000139193.3	protein_coding	S152|S152. LPFS2|T14|TNFRSF7|Tp55	12p13.31	CD27 molecule	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. [provided by RefSeq, Jul 2008]
CD27-AS1	chr12	6439001	6451567	-	ENSG00000215039.6	processed_transcript	-	12p13.31	CD27 antisense RNA 1	-
CD274	chr9	5450503	5470566	+	ENSG00000120217.13	protein_coding	B7-H|B7H1|PD-L1|PDCD1L1|PDCD1LG1|PDL1|hPD-L1	9p24.1	CD274 molecule	This gene encodes an immune inhibitory receptor ligand that is expressed by hematopoietic and non-hematopoietic cells, such as T cells and B cells and various types of tumor cells. The encoded protein is a type I transmembrane protein that has immunoglobulin V-like and C-like domains. Interaction of this ligand with its receptor inhibits T-cell activation and cytokine production. During infection or inflammation of normal tissue, this interaction is important for preventing autoimmunity by maintaining homeostasis of the immune response. In tumor microenvironments, this interaction provides an immune escape for tumor cells through cytotoxic T-cell inactivation. Expression of this gene in tumor cells is considered to be prognostic in many types of human malignancies, including colon cancer and renal cell carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
CD276	chr15	73683966	73714518	+	ENSG00000103855.17	protein_coding	4Ig-B7-H3|B7-H3|B7H3|B7RP-2	15q24.1	CD276 molecule	The protein encoded by this gene belongs to the immunoglobulin superfamily, and thought to participate in the regulation of T-cell-mediated immune response. Studies show that while the transcript of this gene is ubiquitously expressed in normal tissues and solid tumors, the protein is preferentially expressed only in tumor tissues. Additionally, it was observed that the 3 UTR of this transcript contains a target site for miR29 microRNA, and there is an inverse correlation between the expression of this protein and miR29 levels, suggesting regulation of expression of this gene product by miR29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
CD28	chr2	203706475	203738912	+	ENSG00000178562.17	protein_coding	Tp44	2q33.2	CD28 molecule	The protein encoded by this gene is essential for T-cell proliferation and survival, cytokine production, and T-helper type-2 development. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]
CD2AP	chr6	47477789	47627263	+	ENSG00000198087.7	protein_coding	CMS	6p12.3	CD2 associated protein	This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. [provided by RefSeq, Jul 2008]
CD2BP2	chr16	30350766	30355361	-	ENSG00000169217.8	protein_coding	FWP010|LIN1|PPP1R59|Snu40|U5-52K	16p11.2	CD2 cytoplasmic tail binding protein 2	This gene encodes a bi-functional protein. In the cytoplasm, the encoded protein binds the cytoplasmic tail of human surface antigen CD2 via its C-terminal GYF domain, and regulate CD2-triggered T lymphocyte activation. In the nucleus, this protein is a component of the U5 small nuclear ribonucleoprotein complex and is involved in RNA splicing. A pseudogene has been identified on chromosome 7. Alternative splicing results in multiple transcript variants but their biological validity has not been determined. [provided by RefSeq, Nov 2008]
CD300C	chr17	74541108	74546143	-	ENSG00000167850.3	protein_coding	CLM-6|CMRF-35|CMRF-35A|CMRF35|CMRF35-A1|CMRF35A|CMRF35A1|IGSF16|LIR	17q25.1	CD300c molecule	The CMRF35 antigen, which was identified by reactivity with a monoclonal antibody, is present on monocytes, neutrophils, and some T and B lymphocytes (Jackson et al., 1992 [PubMed 1349532]).[supplied by OMIM, Mar 2008]
CD300LB	chr17	74521174	74531474	-	ENSG00000178789.8	protein_coding	CD300b|CLM-7|CLM7|CMRF35-A2|IREM-3|IREM3|TREM-5|TREM5	17q25.1	CD300 molecule like family member b	CD300LB is a nonclassical activating receptor of the immunoglobulin (Ig) superfamily expressed on myeloid cells (Martinez-Barriocanal and Sayos, 2006 [PubMed 16920917]).[supplied by OMIM, Mar 2008]
CD300LF	chr17	74694311	74712978	-	ENSG00000186074.18	protein_coding	CD300f|CLM-1|CLM1|IREM-1|IREM1|IgSF13|LMIR3|NKIR	17q25.1	CD300 molecule like family member f	This gene encodes a member of the CD300 protein family. Members of this family are cell surface glycoproteins with a single IgV-like extracellular domain, and are involved in the regulation of immune response. The encoded protein is an inhibitory receptor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
CD300LG	chr17	43847148	43863629	+	ENSG00000161649.12	protein_coding	CLM-9|CLM9|NEPMUCIN|TREM-4|TREM4	17q21.31	CD300 molecule like family member g	Members of the CD300 (see MIM 606786)-like (CD300L) family, such as CD300LG, are widely expressed on hematopoietic cells. All CD300L proteins are type I cell surface glycoproteins that contain a single immunoglobulin (Ig) V-like domain (Takatsu et al., 2006 [PubMed 16876123]).[supplied by OMIM, Mar 2008]
CD302	chr2	159768630	159798255	-	ENSG00000241399.6	protein_coding	BIMLEC|CLEC13A|DCL-1|DCL1	2q24.2	CD302 molecule	CD302 is a C-type lectin receptor involved in cell adhesion and migration, as well as endocytosis and phagocytosis (Kato et al., 2007 [PubMed 17947679]).[supplied by OMIM, Aug 2008]
CD320	chr19	8302127	8308356	-	ENSG00000167775.10	protein_coding	8D6|8D6A|TCBLR|TCN2R	19p13.2	CD320 molecule	This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]
CD33	chr19	51225064	51243860	+	ENSG00000105383.14	protein_coding	SIGLEC-3|SIGLEC3|p67	19q13.41	CD33 molecule	Broad expression in spleen (RPKM 7.5), bone marrow (RPKM 6.6) and 19 other tissues
CD34	chr1	207880972	207911402	-	ENSG00000174059.16	protein_coding	-	1q32.2	CD34 molecule	Broad expression in placenta (RPKM 110.3), fat (RPKM 76.9) and 19 other tissues
CD36	chr7	80369575	80679277	+	ENSG00000135218.17	protein_coding	BDPLT10|CHDS7|FAT|GP3B|GP4|GPIV|PASIV|SCARB3	7q21.11	CD36 molecule	The protein encoded by this gene is the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport. Mutations in this gene cause platelet glycoprotein deficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2014]
CD37	chr19	49335171	49343335	+	ENSG00000104894.11	protein_coding	GP52-40|TSPAN26	19q13.33	CD37 molecule	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It may play a role in T-cell-B-cell interactions. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
CD38	chr4	15778275	15853230	+	ENSG00000004468.12	protein_coding	ADPRC 1|ADPRC1	4p15.32	CD38 molecule	The protein encoded by this gene is a non-lineage-restricted, type II transmembrane glycoprotein that synthesizes and hydrolyzes cyclic adenosine 5-diphosphate-ribose, an intracellular calcium ion mobilizing messenger. The release of soluble protein and the ability of membrane-bound protein to become internalized indicate both extracellular and intracellular functions for the protein. This protein has an N-terminal cytoplasmic tail, a single membrane-spanning domain, and a C-terminal extracellular region with four N-glycosylation sites. Crystal structure analysis demonstrates that the functional molecule is a dimer, with the central portion containing the catalytic site. It is used as a prognostic marker for patients with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
CD3D	chr11	118338954	118342744	-	ENSG00000167286.9	protein_coding	CD3-DELTA|IMD19|T3D	11q23.3	CD3d molecule	The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the delta subunit of the CD3 complex, and along with four other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the TCR/CD3 complex on the surface of T-cells. Defects in this gene are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two transcript variants encoding different isoforms have been found for this gene. Other variants may also exist, but the full-length natures of their transcripts has yet to be defined. [provided by RefSeq, Feb 2009]
CD3G	chr11	118344344	118355161	+	ENSG00000160654.9	protein_coding	CD3-GAMMA|IMD17|T3G	11q23.3	CD3g molecule	The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency. [provided by RefSeq, Jul 2008]
CD40	chr20	46118272	46129863	+	ENSG00000101017.13	protein_coding	Bp50|CDW40|TNFRSF5|p50	20q13.12	CD40 molecule	This gene is a member of the TNF-receptor superfamily. The encoded protein is a receptor on antigen-presenting cells of the immune system and is essential for mediating a broad variety of immune and inflammatory responses including T cell-dependent immunoglobulin class switching, memory B cell development, and germinal center formation. AT-hook transcription factor AKNA is reported to coordinately regulate the expression of this receptor and its ligand, which may be important for homotypic cell interactions. Adaptor protein TNFR2 interacts with this receptor and serves as a mediator of the signal transduction. The interaction of this receptor and its ligand is found to be necessary for amyloid-beta-induced microglial activation, and thus is thought to be an early event in Alzheimer disease pathogenesis. Mutations affecting this gene are the cause of autosomal recessive hyper-IgM immunodeficiency type 3 (HIGM3). Multiple alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2014]
CD44	chr11	35138870	35232402	+	ENSG00000026508.17	protein_coding	CDW44|CSPG8|ECMR-III|HCELL|HUTCH-I|IN|LHR|MC56|MDU2|MDU3|MIC4|Pgp1	11p13	CD44 molecule (Indian blood group)	The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008]
CD46	chr1	207752057	207795513	+	ENSG00000117335.19	protein_coding	AHUS2|MCP|MIC10|TLX|TRA2.10	1q32.2	CD46 molecule	The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]
CD47	chr3	108043298	108091025	-	ENSG00000196776.14	protein_coding	IAP|MER6|OA3	3q13.12	CD47 molecule	This gene encodes a membrane protein, which is involved in the increase in intracellular calcium concentration that occurs upon cell adhesion to extracellular matrix. The encoded protein is also a receptor for the C-terminal cell binding domain of thrombospondin, and it may play a role in membrane transport and signal transduction. This gene has broad tissue distribution, and is reduced in expression on Rh erythrocytes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]
CD48	chr1	160678746	160711851	-	ENSG00000117091.9	protein_coding	BCM1|BLAST|BLAST1|MEM-102|SLAMF2|hCD48|mCD48	1q23.3	CD48 molecule	This gene encodes a member of the CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins. The encoded protein is found on the surface of lymphocytes and other immune cells, dendritic cells and endothelial cells, and participates in activation and differentiation pathways in these cells. The encoded protein does not have a transmembrane domain, however, but is held at the cell surface by a GPI anchor via a C-terminal domain which maybe cleaved to yield a soluble form of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
CD5	chr11	61102395	61127852	+	ENSG00000110448.10	protein_coding	LEU1|T1	11q12.2	CD5 molecule	This gene encodes a member of the scavenger receptor cysteine-rich (SRCR) superfamily. Members of this family are secreted or membrane-anchored proteins mainly found in cells associated with the immune system. This protein is a type-I transmembrane glycoprotein found on the surface of thymocytes, T lymphocytes and a subset of B lymphocytes. The encoded protein contains three SRCR domains and may act as a receptor to regulate T-cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2016]
CD52	chr1	26317957	26320523	+	ENSG00000169442.8	protein_coding	CDW52|EDDM5|HE5	1p36.11	CD52 molecule	Biased expression in lymph node (RPKM 265.0), spleen (RPKM 195.7) and 9 other tissues
CD53	chr1	110873154	110899928	+	ENSG00000143119.12	protein_coding	MOX44|TSPAN25	1p13.3	CD53 molecule	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
CD55	chr1	207321508	207386804	+	ENSG00000196352.14	protein_coding	CHAPLE|CR|CROM|DAF|TC	1q32.2	CD55 molecule (Cromer blood group)	This gene encodes a glycoprotein involved in the regulation of the complement cascade. Binding of the encoded protein to complement proteins accelerates their decay, thereby disrupting the cascade and preventing damage to host cells. Antigens present on this protein constitute the Cromer blood group system (CROM). Alternative splicing results in multiple transcript variants. The predominant transcript variant encodes a membrane-bound protein, but alternatively spliced transcripts may produce soluble proteins. [provided by RefSeq, Jul 2014]
CD58	chr1	116514535	116571039	-	ENSG00000116815.15	protein_coding	LFA-3|LFA3|ag3	1p13.1	CD58 molecule	This gene encodes a member of the immunoglobulin superfamily. The encoded protein is a ligand of the T lymphocyte CD2 protein, and functions in adhesion and activation of T lymphocytes. The protein is localized to the plasma membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]
CD59	chr11	33698261	33736445	-	ENSG00000085063.14	protein_coding	16.3A5|1F5|EJ16|EJ30|EL32|G344|HRF-20|HRF20|MAC-IP|MACIF|MEM43|MIC11|MIN1|MIN2|MIN3|MIRL|MSK21|p18-20	11p13	CD59 molecule (CD59 blood group)	This gene encodes a cell surface glycoprotein that regulates complement-mediated cell lysis, and it is involved in lymphocyte signal transduction. This protein is a potent inhibitor of the complement membrane attack complex, whereby it binds complement C8 and/or C9 during the assembly of this complex, thereby inhibiting the incorporation of multiple copies of C9 into the complex, which is necessary for osmolytic pore formation. This protein also plays a role in signal transduction pathways in the activation of T cells. Mutations in this gene cause CD59 deficiency, a disease resulting in hemolytic anemia and thrombosis, and which causes cerebral infarction. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
CD6	chr11	60971680	61020377	+	ENSG00000013725.14	protein_coding	TP120	11q12.2	CD6 molecule	This gene encodes a protein found on the outer membrane of T-lymphocytes as well as some other immune cells. The encoded protein contains three scavenger receptor cysteine-rich (SRCR) domains and a binding site for an activated leukocyte cell adhesion molecule. The gene product is important for continuation of T cell activation. This gene may be associated with susceptibility to multiple sclerosis (PMID: 19525953, 21849685). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
CD63	chr12	55725323	55729707	-	ENSG00000135404.11	protein_coding	LAMP-3|ME491|MLA1|OMA81H|TSPAN30	12q13.2	CD63 molecule	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The encoded protein is a cell surface glycoprotein that is known to complex with integrins. It may function as a blood platelet activation marker. Deficiency of this protein is associated with Hermansky-Pudlak syndrome. Also this gene has been associated with tumor progression. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Apr 2012]
CD68	chr17	7579467	7582113	+	ENSG00000129226.13	protein_coding	GP110|LAMP4|SCARD1	17p13.1	CD68 molecule	This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
CD69	chr12	9752486	9760901	-	ENSG00000110848.8	protein_coding	AIM|BL-AC/P26|CLEC2C|EA1|GP32/28|MLR-3	12p13.31	CD69 molecule	This gene encodes a member of the calcium dependent lectin superfamily of type II transmembrane receptors. Expression of the encoded protein is induced upon activation of T lymphocytes, and may play a role in proliferation. Furthermore, the protein may act to transmit signals in natural killer cells and platelets. [provided by RefSeq, Aug 2011]
CD7	chr17	82314868	82317602	-	ENSG00000173762.7	protein_coding	GP40|LEU-9|TP41|Tp40	17q25.3	CD7 molecule	This gene encodes a transmembrane protein which is a member of the immunoglobulin superfamily. This protein is found on thymocytes and mature T cells. It plays an essential role in T-cell interactions and also in T-cell/B-cell interaction during early lymphoid development. [provided by RefSeq, Jul 2008]
CD70	chr19	6583183	6604103	-	ENSG00000125726.10	protein_coding	CD27-L|CD27L|CD27LG|LPFS3|TNFSF7|TNLG8A	19p13.3	CD70 molecule	The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF27/CD27. It is a surface antigen on activated, but not on resting, T and B lymphocytes. It induces proliferation of costimulated T cells, enhances the generation of cytolytic T cells, and contributes to T cell activation. This cytokine is also reported to play a role in regulating B-cell activation, cytotoxic function of natural killer cells, and immunoglobulin sythesis. [provided by RefSeq, Jul 2008]
CD72	chr9	35609533	35646810	-	ENSG00000137101.12	protein_coding	CD72b|LYB2	9p13.3	CD72 molecule	Biased expression in lymph node (RPKM 32.2), spleen (RPKM 30.4) and 4 other tissues
CD79A	chr19	41877120	41881372	+	ENSG00000105369.9	protein_coding	IGA|MB-1	19q13.2	CD79a molecule	The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-alpha protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
CD79B	chr17	63928740	63932354	-	ENSG00000007312.12	protein_coding	AGM6|B29|IGB	17q23.3	CD79b molecule	The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-beta protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
CD80	chr3	119524293	119559602	-	ENSG00000121594.11	protein_coding	B7|B7-1|B7.1|BB1|CD28LG|CD28LG1|LAB7	3q13.33	CD80 molecule	The protein encoded by this gene is a membrane receptor that is activated by the binding of CD28 or CTLA-4. The activated protein induces T-cell proliferation and cytokine production. This protein can act as a receptor for adenovirus subgroup B and may play a role in lupus neuropathy. [provided by RefSeq, Aug 2011]
CD81	chr11	2376177	2397419	+	ENSG00000110651.11	protein_coding	CVID6|S5.7|TAPA1|TSPAN28	11p15.5	CD81 molecule	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This protein appears to promote muscle cell fusion and support myotube maintenance. Also it may be involved in signal transduction. This gene is localized in the tumor-suppressor gene region and thus it is a candidate gene for malignancies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
CD81-AS1	chr11	2328749	2377992	-	ENSG00000238184.1	antisense	-	11p15.5	CD81 antisense RNA 1	-
CD82	chr11	44564427	44620363	+	ENSG00000085117.11	protein_coding	4F9|C33|GR15|IA4|KAI1|R2|SAR2|ST6|TSPAN27	11p11.2	CD82 molecule	This metastasis suppressor gene product is a membrane glycoprotein that is a member of the transmembrane 4 superfamily. Expression of this gene has been shown to be downregulated in tumor progression of human cancers and can be activated by p53 through a consensus binding sequence in the promoter. Its expression and that of p53 are strongly correlated, and the loss of expression of these two proteins is associated with poor survival for prostate cancer patients. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
CD83	chr6	14117256	14136918	+	ENSG00000112149.9	protein_coding	BL11|HB15	6p23	CD83 molecule	The protein encoded by this gene is a single-pass type I membrane protein and member of the immunoglobulin superfamily of receptors. The encoded protein may be involved in the regulation of antigen presentation. A soluble form of this protein can bind to dendritic cells and inhibit their maturation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
CD84	chr1	160541095	160579516	-	ENSG00000066294.14	protein_coding	LY9B|SLAMF5|hCD84|mCD84	1q23.3	CD84 molecule	This gene encodes a membrane glycoprotein that is a member of the signaling lymphocyte activation molecule (SLAM) family. This family forms a subset of the larger CD2 cell-surface receptor Ig superfamily. The encoded protein is a homophilic adhesion molecule that is expressed in numerous immune cells types and is involved in regulating receptor-mediated signaling in those cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
CD86	chr3	122055366	122121139	+	ENSG00000114013.15	protein_coding	B7-2|B7.2|B70|CD28LG2|LAB72	3q13.33	CD86 molecule	This gene encodes a type I membrane protein that is a member of the immunoglobulin superfamily. This protein is expressed by antigen-presenting cells, and it is the ligand for two proteins at the cell surface of T cells, CD28 antigen and cytotoxic T-lymphocyte-associated protein 4. Binding of this protein with CD28 antigen is a costimulatory signal for activation of the T-cell. Binding of this protein with cytotoxic T-lymphocyte-associated protein 4 negatively regulates T-cell activation and diminishes the immune response. Alternative splicing results in several transcript variants encoding different isoforms.[provided by RefSeq, May 2011]
CD8A	chr2	86784610	86808396	-	ENSG00000153563.15	protein_coding	CD8|Leu2|p32	2p11.2	CD8a molecule	The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class I MHC molecules. The coreceptor functions as either a homodimer composed of two alpha chains or as a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 alpha chain. Multiple transcript variants encoding different isoforms have been found for this gene. The major protein isoforms of this gene differ by the presence or absence of a transmembrane domain and thus differ in being a membrane-anchored or secreted protein. [provided by RefSeq, May 2020]
CD8B	chr2	86815339	86861924	-	ENSG00000172116.21	protein_coding	CD8B1|LEU2|LY3|LYT3|P37	2p11.2	CD8b molecule	The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen, acting as a coreceptor, and the T-cell receptor on the T lymphocyte recognize antigens displayed by an antigen presenting cell (APC) in the context of class I MHC molecules. The functional coreceptor is either a homodimer composed of two alpha chains, or a heterodimer composed of one alpha and one beta chain. Both alpha and beta chains share significant homology to immunoglobulin variable light chains. This gene encodes the CD8 beta chain isoforms. Multiple alternatively spliced transcript variants encoding distinct membrane associated or secreted isoforms have been described. A pseudogene, also located on chromosome 2, has been identified. [provided by RefSeq, May 2010]
CD8B2	chr2	 106487364	106544297	+	ENSG00000254126	protein-coding	CD8BP	2q12.2	CD8b2 molecule	-
CD9	chr12	6199715	6238271	+	ENSG00000010278.12	protein_coding	BTCC-1|DRAP-27|MIC3|MRP-1|TSPAN-29|TSPAN29	12p13.31	CD9 molecule	This gene encodes a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Tetraspanins are cell surface glycoproteins with four transmembrane domains that form multimeric complexes with other cell surface proteins. The encoded protein functions in many cellular processes including differentiation, adhesion, and signal transduction, and expression of this gene plays a critical role in the suppression of cancer cell motility and metastasis. [provided by RefSeq, Jan 2011]
CD93	chr20	23079349	23086340	-	ENSG00000125810.9	protein_coding	C1QR1|C1qR(P)|C1qRP|CDw93|ECSM3|MXRA4|dJ737E23.1	20p11.21	CD93 molecule	The protein encoded by this gene is a cell-surface glycoprotein and type I membrane protein that was originally identified as a myeloid cell-specific marker. The encoded protein was once thought to be a receptor for C1q, but now is thought to instead be involved in intercellular adhesion and in the clearance of apoptotic cells. The intracellular cytoplasmic tail of this protein has been found to interact with moesin, a protein known to play a role in linking transmembrane proteins to the cytoskeleton and in the remodelling of the cytoskeleton. [provided by RefSeq, Jul 2008]
CD96	chr3	111292719	111665750	+	ENSG00000153283.12	protein_coding	TACTILE	3q13.13-q13.2	CD96 molecule	The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein. The protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the immune response. It may also function in antigen presentation. Alternative splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
CD99L2	chrX	150766337	150898816	-	ENSG00000102181.20	protein_coding	CD99B|MIC2L1	Xq28	CD99 molecule like 2	This gene encodes a cell-surface protein that is similar to CD99. A similar protein in mouse functions as an adhesion molecule during leukocyte extravasation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
CDA	chr1	20588948	20618908	+	ENSG00000158825.5	protein_coding	CDD	1p36.12	cytidine deaminase	This gene encodes an enzyme involved in pyrimidine salvaging. The encoded protein forms a homotetramer that catalyzes the irreversible hydrolytic deamination of cytidine and deoxycytidine to uridine and deoxyuridine, respectively. It is one of several deaminases responsible for maintaining the cellular pyrimidine pool. Mutations in this gene are associated with decreased sensitivity to the cytosine nucleoside analogue cytosine arabinoside used in the treatment of certain childhood leukemias. [provided by RefSeq, Jul 2008]
CDADC1	chr13	49247925	49293485	+	ENSG00000102543.14	protein_coding	NYD-SP15|bA103J18.1	13q14.2	cytidine and dCMP deaminase domain containing 1	Broad expression in thyroid (RPKM 5.8), testis (RPKM 5.7) and 24 other tissues
CDAN1	chr15	42723559	42737126	-	ENSG00000140326.12	protein_coding	CDA1|CDAI|CDAN1A|DLT|PRO1295	15q15.2	codanin 1	This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009]
CDC123	chr10	12195965	12250589	+	ENSG00000151465.13	protein_coding	C10orf7|D123	10p14-p13	cell division cycle 123	Ubiquitous expression in lymph node (RPKM 28.2), appendix (RPKM 26.4) and 25 other tissues
CDC14A	chr1	100345025	100520277	+	ENSG00000079335.18	protein_coding	DFNB105|DFNB32|DFNB35|cdc14|hCDC14	1p21.2	cell division cycle 14A	The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. It is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, suggesting a role in cell cycle control. This protein has been shown to interact with, and dephosphorylate tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splicing of this gene results in several transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
CDC14B	chr9	96490241	96619830	-	ENSG00000081377.16	protein_coding	CDC14B3|Cdc14B1|Cdc14B2|hCDC14B	9q22.32-q22.33	cell division cycle 14B	The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. This protein is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, which suggests the role in cell cycle control. This protein has been shown to interact with and dephosphorylates tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splice of this gene results in 3 transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
CDC16	chr13	114234887	114272723	+	ENSG00000130177.14	protein_coding	ANAPC6|APC6|CDC16Hs|CUT9	13q34	cell division cycle 16	The protein encoded by this gene functions as a protein ubiquitin ligase and is a component of the multiprotein APC complex. The APC complex is a cyclin degradation system that governs exit from mitosis by targeting cell cycle proteins for degredation by the 26S proteasome. Each component protein of the APC complex is highly conserved among eukaryotic organisms. This protein, and other APC complex proteins, contain a tetratricopeptide repeat (TPR) domain; a protein domain that is often involved in protein-protein interactions and the assembly of multiprotein complexes. Multiple alternatively spliced transcript variants, encoding distinct proteins, have been identified. [provided by RefSeq, Jan 2016]
CDC20	chr1	43358955	43363203	+	ENSG00000117399.13	protein_coding	CDC20A|bA276H19.3|p55CDC	1p34.2	cell division cycle 20	CDC20 appears to act as a regulatory protein interacting with several other proteins at multiple points in the cell cycle.  It is required for two microtubule-dependent processes, nuclear movement prior to anaphase and chromosome separation. [provided by RefSeq, Jul 2008]
CDC20B	chr5	55112995	55173175	-	ENSG00000164287.12	protein_coding	G6VTS76519	5q11.2	cell division cycle 20B	Low expression observed in reference dataset
CDC20P1	chr9	87011652	87013151	+	ENSG00000231007.5	processed_pseudogene	CDC20P	9q21.33	cell division cycle 20 pseudogene 1	-
CDC23	chr5	138187648	138213343	-	ENSG00000094880.10	protein_coding	ANAPC8|APC8|CUT23	5q31.2	cell division cycle 23	The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae Cdc23, a protein essential for cell cycle progression through the G2/M transition. This protein is a component of anaphase-promoting complex (APC), which is composed of eight protein subunits and highly conserved in eukaryotic cells. APC catalyzes the formation of cyclin B-ubiquitin conjugate that is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. This protein and 3 other members of the APC complex contain the TPR (tetratricopeptide repeat), a protein domain important for protein-protein interaction. [provided by RefSeq, Jul 2008]
CDC25A	chr3	48157146	48188402	-	ENSG00000164045.11	protein_coding	CDC25A2	3p21.31	cell division cycle 25A	CDC25A is a member of the CDC25 family of phosphatases. CDC25A is required for progression from G1 to the S phase of the cell cycle. It activates the cyclin-dependent kinase CDC2 by removing two phosphate groups. CDC25A is specifically degraded in response to DNA damage, which prevents cells with chromosomal abnormalities from progressing through cell division. CDC25A is an oncogene, although its exact role in oncogenesis has not been demonstrated. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
CDC25B	chr20	3786772	3806121	+	ENSG00000101224.17	protein_coding	-	20p13	cell division cycle 25B	Ubiquitous expression in lymph node (RPKM 21.4), appendix (RPKM 15.3) and 24 other tissues
CDC25C	chr5	138285265	138338355	-	ENSG00000158402.18	protein_coding	CDC25|PPP1R60	5q31.2	cell division cycle 25C	This gene encodes a conserved protein that plays a key role in the regulation of cell division. The encoded protein directs dephosphorylation of cyclin B-bound CDC2 and triggers entry into mitosis. It also suppresses p53-induced growth arrest. Multiple alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Dec 2015]
CDC26	chr9	113255835	113275589	-	ENSG00000176386.8	protein_coding	ANAPC12|APC12|C9orf17	9q32	cell division cycle 26	The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc26, a component of cell cycle anaphase-promoting complex (APC). APC is composed of a group of highly conserved proteins and functions as a cell cycle-regulated ubiquitin-protein ligase. APC thus is responsible for the cell cycle regulated proteolysis of various proteins. [provided by RefSeq, Jul 2008]
CDC27	chr17	47117703	47189422	-	ENSG00000004897.11	protein_coding	ANAPC3|APC3|CDC27Hs|D0S1430E|D17S978E|H-NUC|HNUC|NUC2	17q21.32	cell division cycle 27	The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein is a component of the anaphase-promoting complex (APC), which is composed of eight protein subunits and is highly conserved in eukaryotic cells. This complex catalyzes the formation of cyclin B-ubiquitin conjugate, which is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. The protein encoded by this gene and three other members of the APC complex contain tetratricopeptide (TPR) repeats, which are important for protein-protein interactions. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and it may thus be involved in controlling the timing of mitosis. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 22 and Y. [provided by RefSeq, May 2014]
CDC27P3	chr20	29746181	29748090	+	ENSG00000283005.1	processed_pseudogene	-	20q11.1	cell division cycle 27 pseudogene 3	-
CDC34	chr19	531712	542092	+	ENSG00000099804.8	protein_coding	E2-CDC34|UBC3|UBCH3|UBE2R1	19p13.3	cell division cycle 34, ubiqiutin conjugating enzyme	The protein encoded by this gene is a member of the ubiquitin-conjugating enzyme family. Ubiquitin-conjugating enzyme catalyzes the covalent attachment of ubiquitin to other proteins. This protein is a part of the large multiprotein complex, which is required for ubiquitin-mediated degradation of cell cycle G1 regulators, and for the initiation of DNA replication. [provided by RefSeq, Jul 2008]
CDC37	chr19	10391134	10420121	-	ENSG00000105401.8	protein_coding	P50CDC37	19p13.2	cell division cycle 37, HSP90 cochaperone	The protein encoded by this gene is highly similar to Cdc 37, a cell division cycle control protein of Sacchromyces cerevisiae. This protein is a molecular chaperone with specific function in cell signal transduction. It has been shown to form complex with Hsp90 and a variety of protein kinases including CDK4, CDK6, SRC, RAF-1, MOK, as well as eIF2 alpha kinases. It is thought to play a critical role in directing Hsp90 to its target kinases. [provided by RefSeq, Jul 2008]
CDC37L1	chr9	4679559	4708398	+	ENSG00000106993.11	protein_coding	CDC37B|HARC	9p24.1	cell division cycle 37 like 1	CDC37L1 is a cytoplasmic phosphoprotein that exists in complex with HSP90 (HSPCA; MIM 140571) as well as several other proteins involved in HSP90-mediated protein folding (Scholz et al., 2001 [PubMed 11413142]).[supplied by OMIM, Mar 2008]
CDC37L1-DT	chr9	 4676600	4679480	-	ENSG00000273061	ncRNA	CDC37L1-AS1	9p24.1	CDC37L1 divergent transcript	Broad expression in kidney (RPKM 2.4), liver (RPKM 1.8) and 22 other tissues
CDC37P1	chr16	28700294	28701540	-	ENSG00000259982.1	processed_pseudogene	A-761H5.2	16p11.2	cell division cycle 37 pseudogene 1	-
CDC37P2	chr16	28413703	28415018	+	ENSG00000261089.1	processed_pseudogene	-	16p12.1	cell division cycle 37 pseudogene 2	-
CDC40	chr6	110180141	110254275	+	ENSG00000168438.14	protein_coding	EHB3|PCH15|PRP17|PRPF17	6q21	cell division cycle 40	Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp17 protein, which functions in two different cellular processes: pre-mRNA splicing and cell cycle progression. It suggests that this protein may play a role in cell cycle progression. [provided by RefSeq, Jul 2008]
CDC42	chr1	22052627	22092946	+	ENSG00000070831.15	protein_coding	CDC42Hs|G25K|TKS	1p36.12	cell division cycle 42	The protein encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaling pathways that control diverse cellular functions including cell morphology, migration, endocytosis and cell cycle progression. This protein is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation of GDP from this protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing of this gene results in multiple transcript variants. Pseudogenes of this gene have been identified on chromosomes 3, 4, 5, 7, 8 and 20. [provided by RefSeq, Apr 2013]
CDC42-IT1	chr1	22059197	22064199	+	ENSG00000230068.2	sense_intronic	-	1p36.12	CDC42 intronic transcript 1	-
CDC42BPA	chr1	226989865	227318474	-	ENSG00000143776.18	protein_coding	MRCK|MRCKA|PK428	1q42.13	CDC42 binding protein kinase alpha	The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2018]
CDC42BPB	chr14	102932379	103057462	-	ENSG00000198752.10	protein_coding	MRCKB	14q32.32	CDC42 binding protein kinase beta	This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008]
CDC42BPG	chr11	64823387	64844569	-	ENSG00000171219.8	protein_coding	DMPK2|HSMDPKIN|KAPPA-200|MRCKG|MRCKgamma	11q13.1	CDC42 binding protein kinase gamma	Broad expression in skin (RPKM 11.8), stomach (RPKM 5.1) and 20 other tissues
CDC42EP1	chr22	37560447	37569405	+	ENSG00000128283.6	protein_coding	BORG5|CEP1|MSE55	22q13.1	CDC42 effector protein 1	CDC42 is a member of the Rho GTPase family that regulates multiple cellular activities, including actin polymerization. The protein encoded by this gene is a CDC42 binding protein that mediates actin cytoskeleton reorganization at the plasma membrane. This protein is secreted and is primarily found in bone marrow. [provided by RefSeq, Jul 2008]
CDC42EP2	chr11	65314818	65322429	+	ENSG00000149798.4	protein_coding	BORG1|CEP2	11q13.1	CDC42 effector protein 2	CDC42, a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg family of CDC42 effector proteins. Borg family proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to, and negatively regulate the function of CDC42. Coexpression of this protein with CDC42 suggested a role of this protein in actin filament assembly and cell shape control. [provided by RefSeq, Aug 2011]
CDC42EP3	chr2	37641882	37738468	-	ENSG00000163171.7	protein_coding	BORG2|CEP3|UB1	2p22.2	CDC42 effector protein 3	This gene encodes a member of a small family of guanosine triphosphate (GTP) metabolizing proteins that contain a CRIB (Cdc42, Rac interactive binding) domain. Members of this family of proteins act as effectors of CDC42 function. The encoded protein is involved in actin cytoskeleton re-organization during cell shape changes, including pseudopodia formation. A pseudogene of this gene is found on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
CDC42EP4	chr17	73283624	73312175	-	ENSG00000179604.9	protein_coding	BORG4|CEP4|KAIA1777	17q25.1	CDC42 effector protein 4	The product of this gene is a member of the CDC42-binding protein family. Members of this family interact with Rho family GTPases and regulate the organization of the actin cytoskeleton. This protein has been shown to bind both CDC42 and TC10 GTPases in a GTP-dependent manner. When overexpressed in fibroblasts, this protein was able to induce pseudopodia formation, which suggested a role in inducing actin filament assembly and cell shape control. [provided by RefSeq, Jul 2008]
CDC42SE1	chr1	151050971	151070325	-	ENSG00000197622.12	protein_coding	SCIP1|SPEC1	1q21.3	CDC42 small effector 1	Ubiquitous expression in spleen (RPKM 61.6), lymph node (RPKM 60.7) and 25 other tissues
CDC42SE2	chr5	131245493	131398447	+	ENSG00000158985.13	protein_coding	SPEC2	5q31.1	CDC42 small effector 2	Ubiquitous expression in lymph node (RPKM 52.2), appendix (RPKM 43.6) and 25 other tissues
CDC5L	chr6	44387525	44450426	+	ENSG00000096401.7	protein_coding	CDC5|CDC5-LIKE|CEF1|PCDC5RP|dJ319D22.1	6p21.1	cell division cycle 5 like	The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. [provided by RefSeq, Jul 2008]
CDC6	chr17	40287633	40304657	+	ENSG00000094804.9	protein_coding	CDC18L|HsCDC18|HsCDC6|MGORS5	17q21.2	cell division cycle 6	The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus during cell cyle G1, but translocates to the cytoplasm at the start of S phase. The subcellular translocation of this protein during cell cyle is regulated through its phosphorylation by Cdks. Transcription of this protein was reported to be regulated in response to mitogenic signals through transcriptional control mechanism involving E2F proteins. [provided by RefSeq, Jul 2008]
CDC7	chr1	91500893	91525764	+	ENSG00000097046.12	protein_coding	CDC7L1|HsCDC7|Hsk1|huCDC7	1p22.2-p22.1	cell division cycle 7	This gene encodes a cell division cycle protein with kinase activity that is critical for the G1/S transition. The yeast homolog is also essential for initiation of DNA replication as cell division occurs. Overexpression of this gene product may be associated with neoplastic transformation for some tumors. Multiple alternatively spliced transcript variants that encode the same protein have been detected. [provided by RefSeq, Aug 2008]
CDC73	chr1	193122017	193253901	+	ENSG00000134371.10	protein_coding	C1orf28|FIHP|HPTJT|HRPT1|HRPT2|HYX	1q31.2	cell division cycle 73	This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3 mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009]
CDCA2	chr8	25458997	25507920	+	ENSG00000184661.13	protein_coding	PPP1R81|Repo-Man	8p21.2	cell division cycle associated 2	This gene encodes a targeting subunit of the cell-cycle associated protein, protein phosphatase 1, with a role in targeting this protein to chromatin during anaphase. These two proteins comprise a phosphatase complex that is involved in nuclear envelope reformation and regulation of the DNA damage response. The encoded protein may also play a role in cancer progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
CDCA4	chr14	105009573	105021148	-	ENSG00000170779.10	protein_coding	HEPP|SEI-3/HEPP	14q32.33	cell division cycle associated 4	This gene encodes a protein that belongs to the E2F family of transcription factors. This protein regulates E2F-dependent transcriptional activation and cell proliferation, mainly through the E2F/retinoblastoma protein pathway. It also functions in the regulation of JUN oncogene expression. This protein shows distinctive nuclear-mitotic apparatus distribution, it is involved in spindle organization from prometaphase, and may also play a role as a midzone factor involved in chromosome segregation or cytokinesis. Two alternatively spliced transcript variants encoding the same protein have been noted for this gene. Two pseudogenes have also been identified on chromosome 1. [provided by RefSeq, May 2014]
CDCA4P1	chr9	14593577	14594200	+	ENSG00000229029.2	processed_pseudogene	-	9p22.3	cell division cycle associated 4 pseudogene 1	-
CDCA4P4	chr1	207762584	207763263	+	ENSG00000234219.1	unprocessed_pseudogene	-	1q32.2	cell division cycle associated 4 pseudogene 4	-
CDCA5	chr11	65066300	65084164	-	ENSG00000146670.9	protein_coding	SORORIN	11q13.1	cell division cycle associated 5	Biased expression in bone marrow (RPKM 12.1), testis (RPKM 11.0) and 13 other tissues
CDCA7	chr2	173354820	173368997	+	ENSG00000144354.13	protein_coding	ICF3|JPO1	2q31.1	cell division cycle associated 7	This gene was identified as a c-Myc responsive gene, and behaves as a direct c-Myc target gene. Overexpression of this gene is found to enhance the transformation of lymphoblastoid cells, and it complements a transformation-defective Myc Box II mutant, suggesting its involvement in c-Myc-mediated cell transformation. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
CDCA7L	chr7	21900900	21946084	-	ENSG00000164649.19	protein_coding	JPO2|R1|RAM2	7p15.3	cell division cycle associated 7 like	Broad expression in thyroid (RPKM 17.0), bone marrow (RPKM 16.5) and 25 other tissues
CDCA8	chr1	37692418	37709719	+	ENSG00000134690.10	protein_coding	BOR|BOREALIN|DasraB|MESRGP	1p34.3	cell division cycle associated 8	This gene encodes a component of the chromosomal passenger complex. This complex is an essential regulator of mitosis and cell division. This protein is cell-cycle regulated and is required for chromatin-induced microtubule stabilization and spindle formation. Alternate splicing results in multiple transcript variants. Pseudgenes of this gene are found on chromosomes 7, 8 and 16. [provided by RefSeq, Apr 2013]
CDCP1	chr3	45082278	45146422	-	ENSG00000163814.7	protein_coding	CD318|SIMA135|TRASK	3p21.31	CUB domain containing protein 1	This gene encodes a transmembrane protein which contains three extracellular CUB domains and acts as a substrate for Src family kinases. The protein plays a role in the tyrosine phosphorylation-dependent regulation of cellular events that are involved in tumor invasion and metastasis. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
CDCP2	chr1	54132968	54153770	-	ENSG00000157211.11	protein_coding	-	1p32.3	CUB domain containing protein 2	-
CDH1	chr16	68737225	68835548	+	ENSG00000039068.18	protein_coding	Arc-1|BCDS1|CD324|CDHE|ECAD|LCAM|UVO	16q22.1	cadherin 1	This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function of this gene is thought to contribute to cancer progression by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. This gene is present in a gene cluster with other members of the cadherin family on chromosome 16. [provided by RefSeq, Nov 2015]
CDH11	chr16	64943753	65126112	-	ENSG00000140937.13	protein_coding	CAD11|CDHOB|ESWS|OB|OSF-4	16q21	cadherin 11	This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Expression of this particular cadherin in osteoblastic cell lines, and its upregulation during differentiation, suggests a specific function in bone development and maintenance. [provided by RefSeq, Jul 2008]
CDH13	chr16	82626803	83800640	+	ENSG00000140945.16	protein_coding	CDHH|P105	16q23.3	cadherin 13	This gene encodes a member of the cadherin superfamily. The encoded protein is localized to the surface of the cell membrane and is anchored by a GPI moiety, rather than by a transmembrane domain. The protein lacks the cytoplasmic domain characteristic of other cadherins, and so is not thought to be a cell-cell adhesion glycoprotein. This protein acts as a negative regulator of axon growth during neural differentiation. It also protects vascular endothelial cells from apoptosis due to oxidative stress, and is associated with resistance to atherosclerosis. The gene is hypermethylated in many types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2011]
CDH15	chr16	89171767	89195492	+	ENSG00000129910.7	protein_coding	CDH14|CDH3|CDHM|MCAD|MRD3	16q24.3	cadherin 15	This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain containing 5 cadherin domains, a transmembrane region, and a conserved cytoplasmic domain. Transcripts from this particular cadherin are expressed in myoblasts and upregulated in myotubule-forming cells. The protein is thought to be essential for the control of morphogenetic processes, specifically myogenesis, and may provide a trigger for terminal muscle cell differentiation. [provided by RefSeq, Jul 2008]
CDH16	chr16	66908122	66918984	-	ENSG00000166589.12	protein_coding	-	16q22.1	cadherin 16	Restricted expression toward kidney (RPKM 177.1)
CDH19	chr18	66501083	66604138	-	ENSG00000071991.8	protein_coding	CDH7|CDH7L2	18q22.1	cadherin 19	This gene is one of three related type II cadherin genes situated in a cluster on chromosome 18. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein containing five extracellular cadherin repeats. Loss of cadherins may be associated with cancer formation. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Aug 2012]
CDH2	chr18	27950966	28177446	-	ENSG00000170558.8	protein_coding	ACOGS|ARVD14|CD325|CDHN|CDw325|NCAD	18q12.1	cadherin 2	This gene encodes a classical cadherin and member of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein is proteolytically processed to generate a calcium-dependent cell adhesion molecule and glycoprotein. This protein plays a role in the establishment of left-right asymmetry, development of the nervous system and the formation of cartilage and bone. [provided by RefSeq, Nov 2015]
CDH20	chr18	61333582	61555773	+	ENSG00000101542.9	protein_coding	CDH7L3|Cdh7	18q21.33	cadherin 20	This gene is a type II classical cadherin from the cadherin superfamily and one of three cadherin 7-like genes located in a cluster on chromosome 18. The encoded membrane protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. Since disturbance of intracellular adhesion is a prerequisite for invasion and metastasis of tumor cells, cadherins are considered prime candidates for tumor suppressor genes. [provided by RefSeq, Jul 2008]
CDH22	chr20	46173733	46308498	-	ENSG00000149654.9	protein_coding	C20orf25|dJ998H6.1	20q13.12	cadherin 22	This gene is a member of the cadherin superfamily. The gene product is composed of five cadherin repeat domains and a cytoplasmic tail similar to the highly conserved cytoplasmic region of classical cadherins. Expressed predominantly in the brain, this putative calcium-dependent cell adhesion protein may play an important role in morphogenesis and tissue formation in neural and non-neural cells during development and maintenance of the brain and neuroendocrine organs. [provided by RefSeq, Jul 2008]
CDH23	chr10	71396934	71815947	+	ENSG00000107736.19	protein_coding	CDHR23|PITA5|USH1D	10q22.1	cadherin related 23	This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]
CDH24	chr14	23047062	23057538	-	ENSG00000139880.19	protein_coding	CDH11L	14q11.2	cadherin 24	Ubiquitous expression in endometrium (RPKM 4.3), gall bladder (RPKM 3.2) and 23 other tissues
CDH26	chr20	59958427	60034011	+	ENSG00000124215.16	protein_coding	VR20	20q13.33	cadherin 26	This gene encodes a member of the cadherin protein family. Cadherins are a family of calcium-dependent adhesion molecules that mediate cell-cell adhesion in all solid tissues and modulate a wide variety of processes, including cell polarization, migration and differentiation. Cadherin domains occur as repeats in the extracellular region and are thought to contribute to the sorting of heterogeneous cell types and the maintenance of orderly structures such as epithelium. This protein is expressed in gastrointestinal epithelial cells and may be upregulated during allergic inflammation. This protein interacts with alpha integrins and may also be involved in leukocyte migration and adhesion. [provided by RefSeq, Jan 2017]
CDH3	chr16	68636189	68722616	+	ENSG00000062038.13	protein_coding	CDHP|HJMD|PCAD	16q22.1	cadherin 3	This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. This gene is located in a gene cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. Mutations in this gene are associated with hypotrichosis with juvenile macular dystrophy and ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS). [provided by RefSeq, Nov 2015]
CDH4	chr20	61252426	61940617	+	ENSG00000179242.15	protein_coding	CAD4|R-CAD|RCAD	20q13.33	cadherin 4	This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Based on studies in chicken and mouse, this cadherin is thought to play an important role during brain segmentation and neuronal outgrowth. In addition, a role in kidney and muscle development is indicated. Of particular interest are studies showing stable cis-heterodimers of cadherins 2 and 4 in cotransfected cell lines. Previously thought to interact in an exclusively homophilic manner, this is the first evidence of cadherin heterodimerization. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
CDH6	chr5	31193750	31329146	+	ENSG00000113361.12	protein_coding	CAD6|KCAD	5p13.3	cadherin 6	This gene encodes a member of the cadherin superfamily. Cadherins are membrane glycoproteins that mediate homophilic cell-cell adhesion and play critical roles in cell differentiation and morphogenesis. The encoded protein is a type II cadherin and may play a role in kidney development as well as endometrium and placenta formation. Decreased expression of this gene may be associated with tumor growth and metastasis. [provided by RefSeq, May 2011]
CDH7	chr18	65750252	65890341	+	ENSG00000081138.13	protein_coding	CDH7L1	18q22.1	cadherin 7	This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium dependent cell-cell adhesion molecule is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types. Mutations in this gene may be associated with bipolar disease in human patients. This gene is present in a gene cluster on chromosome 18. [provided by RefSeq, May 2016]
CDH9	chr5	26880600	27121150	-	ENSG00000113100.9	protein_coding	-	5p14.1	cadherin 9	Biased expression in brain (RPKM 3.5) and kidney (RPKM 1.9)
CDHR4	chr3	49790732	49799835	-	ENSG00000187492.8	protein_coding	CDH29|PRO34300	3p21.31	cadherin related family member 4	Biased expression in lung (RPKM 3.2), testis (RPKM 2.4) and 2 other tissues
CDHR5	chr11	616565	626078	-	ENSG00000099834.18	protein_coding	MLPCDH|MU-PCDH|MUCDHL|MUPCDH	11p15.5	cadherin related family member 5	This gene is a novel mucin-like gene that is a member of the cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to mucin proteins, the gene also contains sequence encoding calcium-binding motifs found in all cadherins. The role of the hybrid extracellular region and the specific function of this protein have not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010]
CDIN1	chr15	 36579626	36810244	+	ENSG00000186073	protein-coding	C15orf41|HH114	15q14	CDAN1 interacting nuclease 1	-
CDIP1	chr16	4510675	4538828	-	ENSG00000089486.16	protein_coding	C16orf5|CDIP|I1|LITAFL	16p13.3	cell death inducing p53 target 1	Ubiquitous expression in brain (RPKM 37.0), kidney (RPKM 18.1) and 24 other tissues
CDIPT	chr16	29858357	29863736	-	ENSG00000103502.13	protein_coding	PIS|PIS1	16p11.2	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	Phosphatidylinositol breakdown products are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. Two enzymes, CDP-diacylglycerol synthase and phosphatidylinositol synthase, are involved in the biosynthesis of phosphatidylinositol. Phosphatidylinositol synthase, a member of the CDP-alcohol phosphatidyl transferase class-I family, is an integral membrane protein found on the cytoplasmic side of the endoplasmic reticulum and the Golgi apparatus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
CDIPTOSP	chr16	 29863683	29868053	+	ENSG00000214725	ncRNA	CDIPT-AS1	16p11.2	CDIP transferase opposite strand, pseudogene	Restricted expression toward testis (RPKM 33.0)
CDK1	chr10	60778331	60794852	+	ENSG00000170312.15	protein_coding	CDC2|CDC28A|P34CDC2	10q21.2	cyclin dependent kinase 1	The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is a catalytic subunit of the highly conserved protein kinase complex known as M-phase promoting factor (MPF), which is essential for G1/S and G2/M phase transitions of eukaryotic cell cycle. Mitotic cyclins stably associate with this protein and function as regulatory subunits. The kinase activity of this protein is controlled by cyclin accumulation and destruction through the cell cycle. The phosphorylation and dephosphorylation of this protein also play important regulatory roles in cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
CDK10	chr16	89680737	89696364	+	ENSG00000185324.21	protein_coding	ALSAS|PISSLRE	16q24.3	cyclin dependent kinase 10	The protein encoded by this gene belongs to the CDK subfamily of the Ser/Thr protein kinase family. The CDK subfamily members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and are known to be essential for cell cycle progression. This kinase has been shown to play a role in cellular proliferation and its function is limited to cell cycle G2-M phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
CDK11A	chr1	1702730	1724324	-	ENSG00000008128.22	protein_coding	CDC2L2|CDC2L3|CDK11-p110|CDK11-p46|CDK11-p58|PITSLRE|p58GTA	1p36.33	cyclin dependent kinase 11A	This gene encodes a member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. Due to a segmental duplication, this gene shares very high sequence identity with a neighboring gene. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
CDK11B	chr1	1635227	1659012	-	ENSG00000248333.8	protein_coding	CDC2L1|CDK11|CDK11-p110|CDK11-p46|CDK11-p58|CLK-1|PITSLREA|PK58|p58|p58CDC2L1|p58CLK-1	1p36.33	cyclin dependent kinase 11B	This gene encodes a member of the serine/threonine protein kinase family. Members of this kinase family are known to be essential for eukaryotic cell cycle control. Due to a segmental duplication, this gene shares very high sequence identity with a neighboring gene. These two genes are frequently deleted or altered in neuroblastoma. The protein kinase encoded by this gene can be cleaved by caspases and may play a role in cell apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
CDK12	chr17	39461511	39564907	+	ENSG00000167258.13	protein_coding	CRK7|CRKR|CRKRS	17q12	cyclin dependent kinase 12	Ubiquitous expression in testis (RPKM 8.6), bone marrow (RPKM 8.1) and 25 other tissues
CDK13	chr7	39950037	40097134	+	ENSG00000065883.14	protein_coding	CDC2L|CDC2L5|CHDFIDD|CHED|hCDK13	7p14.1	cyclin dependent kinase 13	The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. The exact function of this protein has not yet been determined, but it may play a role in mRNA processing and may be involved in regulation of hematopoiesis. Alternatively spliced transcript variants have been described.[provided by RefSeq, Dec 2009]
CDK14	chr7	90466424	91210590	+	ENSG00000058091.16	protein_coding	PFTAIRE1|PFTK1	7q21.13	cyclin dependent kinase 14	PFTK1 is a member of the CDC2 (MIM 116940)-related protein kinase family (Yang and Chen, 2001 [PubMed 11313143]).[supplied by OMIM, Mar 2008]
CDK15	chr2	201790461	201895550	+	ENSG00000138395.14	protein_coding	ALS2CR7|PFTAIRE2|PFTK2	2q33.1	cyclin dependent kinase 15	Biased expression in ovary (RPKM 1.2), gall bladder (RPKM 0.5) and 13 other tissues
CDK17	chr12	96278261	96400560	-	ENSG00000059758.7	protein_coding	PCTAIRE2|PCTK2	12q23.1	cyclin dependent kinase 17	The protein encoded by this gene belongs to the cdc2/cdkx subfamily of the ser/thr family of protein kinases. It has similarity to a rat protein that is thought to play a role in terminally differentiated neurons. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Jul 2010]
CDK18	chr1	205504595	205532793	+	ENSG00000117266.15	protein_coding	PCTAIRE|PCTAIRE3|PCTK3	1q32.1	cyclin dependent kinase 18	Predicted to enable ATP binding activity; cyclin-dependent protein serine/threonine kinase activity; and protein serine kinase activity. Predicted to be involved in protein phosphorylation and regulation of transcription involved in G1/S transition of mitotic cell cycle. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
CDK19	chr6	110609978	110815958	-	ENSG00000155111.14	protein_coding	CDC2L6|CDK11|DEE87|EIEE87|bA346C16.3	6q21	cyclin dependent kinase 19	This gene encodes a protein that is one of the components of the Mediator co-activator complex. The Mediator complex is a multi-protein complex required for transcriptional activation by DNA binding transcription factors of genes transcribed by RNA polymerase II. The protein encoded by this gene is similar to cyclin-dependent kinase 8 which can also be a component of the Mediator complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
CDK2	chr12	55966769	55972784	+	ENSG00000123374.10	protein_coding	CDKN2|p33(CDK2)	12q13.2	cyclin dependent kinase 2	This gene encodes a member of a family of serine/threonine protein kinases that participate in cell cycle regulation. The encoded protein is the catalytic subunit of the cyclin-dependent protein kinase complex, which regulates progression through the cell cycle. Activity of this protein is especially critical during the G1 to S phase transition. This protein associates with and regulated by other subunits of the complex including cyclin A or E, CDK inhibitor p21Cip1 (CDKN1A), and p27Kip1 (CDKN1B). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
CDK20	chr9	87966441	87974753	-	ENSG00000156345.17	protein_coding	CCRK|CDCH|P42|PNQALRE	9q22.1	cyclin dependent kinase 20	The protein encoded by this gene contains a kinase domain most closely related to the cyclin-dependent protein kinases. The encoded kinase may activate cyclin-dependent kinase 2 and is involved in cell growth. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Dec 2009]
CDK2AP1	chr12	123260971	123272334	-	ENSG00000111328.6	protein_coding	DOC1|DORC1|ST19|doc-1|p12DOC-1	12q24.31	cyclin dependent kinase 2 associated protein 1	The protein encoded by this gene is a cyclin-dependent kinase 2 (CDK2) -associated protein which is thought to negatively regulate CDK2 activity by sequestering monomeric CDK2, and targeting CDK2 for proteolysis. This protein was found to also interact with DNA polymerase alpha/primase and mediate the phosphorylation of the large p180 subunit, which suggests a regulatory role in DNA replication during the S-phase of the cell cycle. This protein also forms a core subunit of the nucleosome remodeling and histone deacetylation (NURD) complex that epigenetically regulates embryonic stem cell differentiation. This gene thus plays a role in both cell-cycle and epigenetic regulation. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]
CDK2AP2	chr11	67506497	67508649	-	ENSG00000167797.7	protein_coding	DOC-1R|p14	11q13.2	cyclin dependent kinase 2 associated protein 2	This gene encodes a protein that interacts with cyclin-dependent kinase 2 associated protein 1. Pseudogenes associated with this gene are located on chromosomes 7 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]
CDK3	chr17	76000906	76005999	+	ENSG00000250506.7	protein_coding	-	17q25.1	cyclin dependent kinase 3	Ubiquitous expression in skin (RPKM 8.9), small intestine (RPKM 6.9) and 25 other tissues
CDK4	chr12	57747727	57756013	-	ENSG00000135446.16	protein_coding	CMM3|PSK-J3	12q14.1	cyclin dependent kinase 4	The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is highly similar to the gene products of S. cerevisiae cdc28 and S. pombe cdc2. It is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression. The activity of this kinase is restricted to the G1-S phase, which is controlled by the regulatory subunits D-type cyclins and CDK inhibitor p16(INK4a). This kinase was shown to be responsible for the phosphorylation of retinoblastoma gene product (Rb). Mutations in this gene as well as in its related proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated with tumorigenesis of a variety of cancers. Multiple polyadenylation sites of this gene have been reported. [provided by RefSeq, Jul 2008]
CDK5	chr7	151053812	151058530	-	ENSG00000164885.12	protein_coding	LIS7|PSSALRE	7q36.1	cyclin dependent kinase 5	This gene encodes a proline-directed serine/threonine kinase that is a member of the cyclin-dependent kinase family of proteins. Unlike other members of the family, the protein encoded by this gene does not directly control cell cycle regulation. Instead the protein, which is predominantly expressed at high levels in mammalian postmitotic central nervous system neurons, functions in diverse processes such as synaptic plasticity and neuronal migration through phosphorylation of proteins required for cytoskeletal organization, endocytosis and exocytosis, and apoptosis. In humans, an allelic variant of the gene that results in undetectable levels of the protein has been associated with lethal autosomal recessive lissencephaly-7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
CDK5R1	chr17	32486619	32491256	+	ENSG00000176749.8	protein_coding	CDK5P35|CDK5R|NCK5A|p23|p25|p35|p35nck5a	17q11.2	cyclin dependent kinase 5 regulatory subunit 1	The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is required for proper development of the central nervous system. The p35 form of this protein is proteolytically cleaved by calpain, generating a p25 form. The cleavage of p35 into p25 results in relocalization of the protein from the cell periphery to nuclear and perinuclear regions. P25 deregulates CDK5 activity by prolonging its activation and changing its cellular location. The p25 form accumulates in the brain neurons of patients with Alzheimers disease. This accumulation correlates with an increase in CDK5 kinase activity, and may lead to aberrantly phosphorylated forms of the microtubule-associated protein tau, which contributes to Alzheimers disease. [provided by RefSeq, Jul 2008]
CDK5R2	chr2	218959655	218962162	+	ENSG00000171450.5	protein_coding	NCK5AI|P39|p39nck5ai	2q35	cyclin dependent kinase 5 regulatory subunit 2	The protein encoded by this gene is a neuron-specific activator of CDK5 kinase. It associates with CDK5 to form an active kinase. This protein and neuron-specific CDK5 activator CDK5R1/p39NCK5A both share limited similarity to cyclins, and thus may define a distinct family of cyclin-dependent kinase activating proteins. [provided by RefSeq, Jul 2008]
CDK5RAP1	chr20	33358839	33401561	-	ENSG00000101391.20	protein_coding	C20orf34|C42|CGI-05|HSPC167	20q11.21	CDK5 regulatory subunit associated protein 1	This gene encodes a regulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent kinase 5 activity. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]
CDK5RAP2	chr9	120388869	120580170	-	ENSG00000136861.17	protein_coding	C48|Cep215|MCPH3	9q33.2	CDK5 regulatory subunit associated protein 2	This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimers disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
CDK5RAP3	chr17	47967810	47981774	+	ENSG00000108465.14	protein_coding	C53|HSF-27|IC53|LZAP|MST016|OK/SW-cl.114|PP1553	17q21.32	CDK5 regulatory subunit associated protein 3	This gene encodes a protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]
CDK6	chr7	92604921	92836594	-	ENSG00000105810.9	protein_coding	MCPH12|PLSTIRE	7q21.2	cyclin dependent kinase 6	The protein encoded by this gene is a member of the CMGC family of serine/threonine protein kinases. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. Altered expression of this gene has been observed in multiple human cancers. A mutation in this gene resulting in reduced cell proliferation, and impaired cell motility and polarity, and has been identified in patients with primary microcephaly. [provided by RefSeq, Aug 2017]
CDK7	chr5	69234795	69277430	+	ENSG00000134058.11	protein_coding	CAK|CAK1|CDKN7|HCAK|MO15|STK1|p39MO15	5q13.2	cyclin dependent kinase 7	The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This protein forms a trimeric complex with cyclin H and MAT1, which functions as a Cdk-activating kinase (CAK). It is an essential component of the transcription factor TFIIH, that is involved in transcription initiation and DNA repair. This protein is thought to serve as a direct link between the regulation of transcription and the cell cycle. [provided by RefSeq, Jul 2008]
CDK8	chr13	26254104	26405238	+	ENSG00000132964.11	protein_coding	IDDHBA|K35	13q12.13	cyclin dependent kinase 8	This gene encodes a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are known to be important regulators of cell cycle progression. This kinase and its regulatory subunit, cyclin C, are components of the Mediator transcriptional regulatory complex, involved in both transcriptional activation and repression by phosphorylation of the carboxy-terminal domain of the largest subunit of RNA polymerase II. This kinase regulates transcription by targeting the cyclin-dependent kinase 7 subunits of the general transcription initiation factor IIH, thus providing a link between the Mediator complex and the basal transcription machinery. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
CDK8P2	chr2	112932625	112933171	+	ENSG00000227368.1	processed_pseudogene	-	2q14.1	cyclin dependent kinase 8 pseudogene 2	-
CDK9	chr9	127785679	127790787	+	ENSG00000136807.13	protein_coding	C-2k|CDC2L4|CTK1|PITALRE|TAK	9q34.11	cyclin dependent kinase 9	The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and known as important cell cycle regulators. This kinase was found to be a component of the multiprotein complex TAK/P-TEFb, which is an elongation factor for RNA polymerase II-directed transcription and functions by phosphorylating the C-terminal domain of the largest subunit of RNA polymerase II. This protein forms a complex with and is regulated by its regulatory subunit cyclin T or cyclin K. HIV-1 Tat protein was found to interact with this protein and cyclin T, which suggested a possible involvement of this protein in AIDS. [provided by RefSeq, Jul 2008]
CDKAL1	chr6	20534457	21232404	+	ENSG00000145996.11	protein_coding	-	6p22.3	CDK5 regulatory subunit associated protein 1 like 1	Ubiquitous expression in thyroid (RPKM 1.8), endometrium (RPKM 1.4) and 25 other tissues
CDKL1	chr14	50329404	50416461	-	ENSG00000100490.9	protein_coding	KKIALRE|P42	14q21.3	cyclin dependent kinase like 1	This gene product is a member of a large family of CDC2-related serine/threonine protein kinases that accumulates primarily in the nucleus. [provided by RefSeq, Nov 2018]
CDKL2	chr4	75578005	75630716	-	ENSG00000138769.10	protein_coding	KKIAMRE|P56	4q21.1	cyclin dependent kinase like 2	This gene product is a member of a large family of CDC2-related serine/threonine protein kinases. It accumulates primarily in the cytoplasm, with lower levels in the nucleus. [provided by RefSeq, Jul 2008]
CDKL3	chr5	134286350	134371047	-	ENSG00000006837.11	protein_coding	NKIAMRE	5q31.1	cyclin dependent kinase like 3	The protein encoded by this gene is a member of cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This gene was identified as a gene absent in leukemic patients with chromosome 5q deletion. This loss may be an important determinant of dysmyelopoiesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
CDKL4	chr2	39175646	39229588	-	ENSG00000205111.8	protein_coding	-	2p22.1	cyclin dependent kinase like 4	Low expression observed in reference dataset
CDKN1A	chr6	36676460	36687339	+	ENSG00000124762.13	protein_coding	CAP20|CDKN1|CIP1|MDA-6|P21|SDI1|WAF1|p21CIP1	6p21.2	cyclin dependent kinase inhibitor 1A	This gene encodes a potent cyclin-dependent kinase inhibitor. The encoded protein binds to and inhibits the activity of cyclin-cyclin-dependent kinase2 or -cyclin-dependent kinase4 complexes, and thus functions as a regulator of cell cycle progression at G1. The expression of this gene is tightly controlled by the tumor suppressor protein p53, through which this protein mediates the p53-dependent cell cycle G1 phase arrest in response to a variety of stress stimuli. This protein can interact with proliferating cell nuclear antigen, a DNA polymerase accessory factor, and plays a regulatory role in S phase DNA replication and DNA damage repair. This protein was reported to be specifically cleaved by CASP3-like caspases, which thus leads to a dramatic activation of cyclin-dependent kinase2, and may be instrumental in the execution of apoptosis following caspase activation. Mice that lack this gene have the ability to regenerate damaged or missing tissue. Multiple alternatively spliced variants have been found for this gene. [provided by RefSeq, Sep 2015]
CDKN1B	chr12	12715058	12722371	+	ENSG00000111276.10	protein_coding	CDKN4|KIP1|MEN1B|MEN4|P27KIP1	12p13.1	cyclin dependent kinase inhibitor 1B	This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014]
CDKN1C	chr11	2883213	2885881	-	ENSG00000129757.12	protein_coding	BWCR|BWS|KIP2|WBS|p57|p57Kip2	11p15.4	cyclin dependent kinase inhibitor 1C	This gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight-binding, strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
CDKN2A	chr9	21967753	21995301	-	ENSG00000147889.17	protein_coding	ARF|CDK4I|CDKN2|CMM2|INK4|INK4A|MLM|MTS-1|MTS1|P14|P14ARF|P16|P16-INK4A|P16INK4|P16INK4A|P19|P19ARF|TP16	9p21.3	cyclin dependent kinase inhibitor 2A	This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012]
CDKN2A-DT	chr9	 21967139	21967754	+	-	ncRNA	C9orf53|CDKN2A-AS1|bA149I2.3	9p21.3	CDKN2A divergent transcript	-
CDKN2AIP	chr4	183444591	183448198	+	ENSG00000168564.5	protein_coding	CARF	4q35.1	CDKN2A interacting protein	The protein encoded by this gene regulates the DNA damage response through several different signaling pathways. One such pathway is the p53-HDM2-p21(WAF1) pathway, which is critical to the DNA damage response. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
CDKN2AIPNL	chr5	134402087	134411898	-	ENSG00000237190.3	protein_coding	C2AIL	5q31.1	CDKN2A interacting protein N-terminal like	Ubiquitous expression in thyroid (RPKM 3.8), testis (RPKM 3.7) and 25 other tissues
CDKN2B	chr9	22002903	22009363	-	ENSG00000147883.10	protein_coding	CDK4I|INK4B|MTS2|P15|TP15|p15INK4b	9p21.3	cyclin dependent kinase inhibitor 2B	This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
CDKN2B-AS1	chr9	21994778	22121097	+	ENSG00000240498.6	antisense	ANRIL|CDKN2B-AS|CDKN2BAS|NCRNA00089|PCAT12|p15AS	9p21.3	CDKN2B antisense RNA 1	This gene is located within the CDKN2B-CDKN2A gene cluster at chromosome 9p21. The gene product is a functional RNA molecule that interacts with polycomb repressive complex-1 (PRC1) and -2 (PRC2), leading to epigenetic silencing of other genes in this cluster. This region is a significant genetic susceptibility locus for cardiovascular disease, and has also been linked to a number of other pathologies, including several cancers, intracranial aneurysm, type-2 diabetes, periodontitis, Alzheimers disease, endometriosis, frailty in the elderly, and glaucoma. Multiple alternatively processed transcript variants have been detected, some of which may take the form of circular RNA molecules (PMID:21151960). [provided by RefSeq, May 2014]
CDKN2C	chr1	50960745	50974633	+	ENSG00000123080.10	protein_coding	INK4C|p18|p18-INK4C	1p32.3	cyclin dependent kinase inhibitor 2C	The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]
CDKN2D	chr19	10566462	10569059	-	ENSG00000129355.6	protein_coding	INK4D|p19|p19-INK4D	19p13.2	cyclin dependent kinase inhibitor 2D	The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to form a stable complex with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. The abundance of the transcript of this gene was found to oscillate in a cell-cycle dependent manner with the lowest expression at mid G1 and a maximal expression during S phase. The negative regulation of the cell cycle involved in this protein was shown to participate in repressing neuronal proliferation, as well as spermatogenesis. Two alternatively spliced variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]
CDO1	chr5	115804733	115816954	-	ENSG00000129596.4	protein_coding	CDO-I	5q22.3	cysteine dioxygenase type 1	Biased expression in liver (RPKM 94.6), fat (RPKM 66.8) and 8 other tissues
CDON	chr11	125955796	126063335	-	ENSG00000064309.14	protein_coding	CDO|CDON1|HPE11|Ihog|ORCAM	11q24.2	cell adhesion associated, oncogene regulated	This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011]
CDPF1	chr22	46244011	46250679	-	ENSG00000205643.10	protein_coding	C22orf40	22q13.31	cysteine rich DPF motif domain containing 1	Ubiquitous expression in ovary (RPKM 2.6), spleen (RPKM 2.6) and 25 other tissues
CDR2	chr16	22345936	22437165	-	ENSG00000140743.7	protein_coding	CDR62|Yo	16p12.2	cerebellar degeneration related protein 2	Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
CDRT1	chr17	15565483	15619512	-	ENSG00000241322.10	protein_coding	C170RF1|C17ORF1|C17ORF1A|FBXW10B|FBXW10P1|HREP|SM25H2	17p12	CMT1A duplicated region transcript 1	Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
CDRT15P2	chr17	15764703	15765664	+	ENSG00000227255.1	unprocessed_pseudogene	CDRT15L1	17p12	CDRT15 pseudogene 2	-
CDRT4	chr17	15436015	15503608	-	ENSG00000239704.10	protein_coding	-	17p12	CMT1A duplicated region transcript 4	-
CDRT8	chr17	15105237	15106187	-	ENSG00000265163.1	lincRNA	-	17p12	CMT1A duplicated region transcript 8	-
CDS2	chr20	5126786	5197887	+	ENSG00000101290.13	protein_coding	-	20p12.3	CDP-diacylglycerol synthase 2	Ubiquitous expression in brain (RPKM 21.0), heart (RPKM 9.4) and 24 other tissues
CDSN	chr6	31115090	31120446	-	ENSG00000204539.3	protein_coding	HTSS|HTSS1|HYPT2|PSS|PSS1	6p21.33	corneodesmosin	This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. The encoded protein undergoes a series of cleavages during corneocyte maturation. This gene is highly polymorphic in human populations, and variation has been associated with skin diseases such as psoriasis, hypotrichosis and peeling skin syndrome. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. [provided by RefSeq, Dec 2014]
CDT1	chr16	88803213	88809258	+	ENSG00000167513.8	protein_coding	DUP|RIS2	16q24.3	chromatin licensing and DNA replication factor 1	The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011]
CDV3	chr3	133573730	133590261	+	ENSG00000091527.15	protein_coding	H41	3q22.1	CDV3 homolog	Ubiquitous expression in lymph node (RPKM 58.2), appendix (RPKM 45.7) and 25 other tissues
CDX1	chr5	150166795	150184558	+	ENSG00000113722.16	protein_coding	-	5q32	caudal type homeobox 1	Biased expression in colon (RPKM 56.3), small intestine (RPKM 34.1) and 2 other tissues
CDX2	chr13	27962137	27971139	-	ENSG00000165556.9	protein_coding	CDX-3|CDX2/AS|CDX3	13q12.2	caudal type homeobox 2	This gene is a member of the caudal-related homeobox transcription factor gene family. The encoded protein is a major regulator of intestine-specific genes involved in cell growth an differentiation. This protein also plays a role in early embryonic development of the intestinal tract. Aberrant expression of this gene is associated with intestinal inflammation and tumorigenesis. [provided by RefSeq, Jan 2012]
CDY2B	chrY	17877410	17880220	-	ENSG00000129873.7	protein_coding	CDY	Yq11.222	chromodomain Y-linked 2B	This intronless gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. Two nearly identical copies of this gene are found in a palindromic region on chromosome Y; this record represents the centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. [provided by RefSeq, Jul 2008]
CDYL	chr6	4706159	4955551	+	ENSG00000153046.17	protein_coding	CDYL1	6p25.1	chromodomain Y like	Chromodomain Y is a primate-specific Y-chromosomal gene family expressed exclusively in the testis and implicated in infertility. Although the Y-linked genes are testis-specific, this autosomal gene is ubiquitously expressed. The Y-linked genes arose by retrotransposition of an mRNA from this gene, followed by amplification of the retroposed gene. Proteins encoded by this gene superfamily possess a chromodomain, a motif implicated in chromatin binding and gene suppression, and a catalytic domain believed to be involved in histone acetylation. Multiple proteins are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]
CDYL2	chr16	80597906	80804329	-	ENSG00000166446.14	protein_coding	PCCP1	16q23.2	chromodomain Y like 2	Broad expression in testis (RPKM 6.1), placenta (RPKM 3.9) and 20 other tissues
CEACAM1	chr19	42507304	42561234	-	ENSG00000079385.21	protein_coding	BGP|BGP1|BGPI	19q13.2	CEA cell adhesion molecule 1	This gene encodes a member of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the pregnancy-specific glycoproteins, are located within a 1.2 Mb cluster on the long arm of chromosome 19. Eleven pseudogenes of the CEA cell adhesion molecule subgroup are also found in the cluster. The encoded protein was originally described in bile ducts of liver as biliary glycoprotein. Subsequently, it was found to be a cell-cell adhesion molecule detected on leukocytes, epithelia, and endothelia. The encoded protein mediates cell adhesion via homophilic as well as heterophilic binding to other proteins of the subgroup. Multiple cellular activities have been attributed to the encoded protein, including roles in the differentiation and arrangement of tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation of innate and adaptive immune responses. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature of all variants has not been defined. [provided by RefSeq, May 2010]
CEACAM16	chr19	44699151	44710714	+	ENSG00000213892.11	protein_coding	CEAL2|DFNA4B|DFNB113	19q13.31-q13.32	CEA cell adhesion molecule 16, tectorial membrane component	The protein encoded by this gene is a secreted glycoprotein that in mouse interacts with tectorial membrane proteins in the inner ear. The encoded adhesion protein is found in cochlear outer hair cells and appears to be important for proper hearing over an extended frequency range. Defects in this gene likely are a cause of non-syndromic autosomal dominant hearing loss. [provided by RefSeq, May 2012]
CEACAM19	chr19	44662278	44684359	+	ENSG00000186567.12	protein_coding	CEACM19|CEAL1	19q13.31	CEA cell adhesion molecule 19	Broad expression in skin (RPKM 5.4), testis (RPKM 2.3) and 24 other tissues
CEACAM20	chr19	44501677	44529788	-	ENSG00000273777.4	protein_coding	UNQ9366	19q13.31	CEA cell adhesion molecule 20	Biased expression in small intestine (RPKM 13.3), duodenum (RPKM 12.5) and 1 other tissue
CEACAM21	chr19	41549518	41586844	+	ENSG00000007129.17	protein_coding	CEACAM3|R29124_1	19q13.2	CEA cell adhesion molecule 21	Broad expression in lymph node (RPKM 2.0), bone marrow (RPKM 1.9) and 15 other tissues
CEACAM22P	chr19	44537058	44620821	-	ENSG00000230666.5	transcribed_unprocessed_pseudogene	-	19q13.31	CEA cell adhesion molecule 22, pseudogene	-
CEACAM3	chr19	41796437	41811553	+	ENSG00000170956.16	protein_coding	CD66D|CEA|CGM1|W264|W282	19q13.2	CEA cell adhesion molecule 3	This gene encodes a member of the family of carcinoembryonic antigen-related cell adhesion molecules (CEACAMs), which are used by several bacterial pathogens to bind and invade host cells. The encoded transmembrane protein directs phagocytosis of several bacterial species that is dependent on the small GTPase Rac. It is thought to serve an important role in controlling human-specific pathogens by the innate immune system. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013]
CEACAM4	chr19	41618971	41627074	-	ENSG00000105352.10	protein_coding	CGM7|CGM7_HUMAN|NCA	19q13.2	CEA cell adhesion molecule 4	Biased expression in bone marrow (RPKM 8.4), spleen (RPKM 4.0) and 4 other tissues
CEACAM5	chr19	41708585	41729798	+	ENSG00000105388.15	protein_coding	CD66e|CEA	19q13.2	CEA cell adhesion molecule 5	This gene encodes a cell surface glycoprotein that represents the founding member of the carcinoembryonic antigen (CEA) family of proteins. The encoded protein is used as a clinical biomarker for gastrointestinal cancers and may promote tumor development through its role as a cell adhesion molecule. Additionally, the encoded protein may regulate differentiation, apoptosis, and cell polarity. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
CEACAM6	chr19	41750977	41772208	+	ENSG00000086548.8	protein_coding	CD66c|CEAL|NCA	19q13.2	CEA cell adhesion molecule 6	This gene encodes a protein that belongs to the carcinoembryonic antigen (CEA) family whose members are glycosyl phosphatidyl inositol (GPI) anchored cell surface glycoproteins. Members of this family play a role in cell adhesion and are widely used as tumor markers in serum immunoassay determinations of carcinoma. This gene affects the sensitivity of tumor cells to adenovirus infection. The protein encoded by this gene acts as a receptor for adherent-invasive E. coli adhesion to the surface of ileal epithelial cells in patients with Crohns disease. This gene is clustered with genes and pseudogenes of the cell adhesion molecules subgroup of the CEA family on chromosome 19. [provided by RefSeq, Apr 2014]
CEACAM7	chr19	41673307	41706976	-	ENSG00000007306.14	protein_coding	CGM2	19q13.2	CEA cell adhesion molecule 7	This gene encodes a cell surface glycoprotein and member of the carcinoembryonic antigen (CEA) family of proteins. Expression of this gene may be downregulated in colon and rectal cancer. Additionally, lower expression levels of this gene may be predictive of rectal cancer recurrence. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
CEACAM8	chr19	42580241	42595055	-	ENSG00000124469.11	protein_coding	CD66b|CD67|CGM6|NCA-95	19q13.2	CEA cell adhesion molecule 8	Restricted expression toward bone marrow (RPKM 58.6)
CEACAMP1	chr19	42620212	42633034	-	ENSG00000233681.1	unprocessed_pseudogene	CEACAM22P|CGM8	19q13.2	CEA cell adhesion molecule pseudogene 1	-
CEACAMP2	chr19	42560433	42561750	-	ENSG00000230558.2	unprocessed_pseudogene	CEACAM23P|CGM9	19q13.2	CEA cell adhesion molecule pseudogene 2	-
CEACAMP3	chr19	41599735	41605984	+	ENSG00000239736.2	transcribed_unprocessed_pseudogene	CEACAM24P|CGM10	19q13.2	CEA cell adhesion molecule pseudogene 3	-
CEBPA	chr19	33299934	33302564	-	ENSG00000245848.2	protein_coding	C/EBP-alpha|CEBP	19q13.11	CCAAT enhancer binding protein alpha	This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [provided by RefSeq, Dec 2013]
CEBPA-DT	chr19	 33302821	33305057	+	ENSG00000267296	ncRNA	ADINR|CEBPA-AS1	19q13.11	CEBPA divergent transcript	-
CEBPB	chr20	50190734	50192689	+	ENSG00000172216.5	protein_coding	C/EBP-beta|IL6DBP|NF-IL6|TCF5	20q13.13	CCAAT enhancer binding protein beta	This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain. The encoded protein functions as a homodimer but can also form heterodimers with CCAAT/enhancer-binding proteins alpha, delta, and gamma. Activity of this protein is important in the regulation of genes involved in immune and inflammatory responses, among other processes. The use of alternative in-frame AUG start codons results in multiple protein isoforms, each with distinct biological functions. [provided by RefSeq, Oct 2013]
CEBPB-AS1	chr20	50184598	50191498	-	ENSG00000277449.1	antisense	-	20q13.13	CEBPB antisense RNA 1	-
CEBPD	chr8	47736909	47739086	-	ENSG00000221869.4	protein_coding	C/EBP-delta|CELF|CRP3|NF-IL6-beta	8q11.21	CCAAT enhancer binding protein delta	The protein encoded by this intronless gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-alpha. The encoded protein is important in the regulation of genes involved in immune and inflammatory responses, and may be involved in the regulation of genes associated with activation and/or differentiation of macrophages. The cytogenetic location of this locus has been reported as both 8p11 and 8q11. [provided by RefSeq, Sep 2010]
CEBPE	chr14	23117304	23119616	-	ENSG00000092067.5	protein_coding	C/EBP-epsilon|CRP1|c/EBP epsilon	14q11.2	CCAAT enhancer binding protein epsilon	The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
CEBPG	chr19	33373330	33382686	+	ENSG00000153879.8	protein_coding	GPE1BP|IG/EBP-1	19q13.11	CCAAT enhancer binding protein gamma	The C/EBP family of transcription factors regulates viral and cellular CCAAT/enhancer element-mediated transcription. C/EBP proteins contain the bZIP region, which is characterized by two motifs in the C-terminal half of the protein: a basic region involved in DNA binding and a leucine zipper motif involved in dimerization. The C/EBP family consist of several related proteins, C/EBP alpha, C/EBP beta, C/EBP gamma, and C/EBP delta, that form homodimers and that form heterodimers with each other. CCAAT/enhancer binding protein gamma may cooperate with Fos to bind PRE-I enhancer elements. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2011]
CEBPZ	chr2	37201612	37231713	-	ENSG00000115816.14	protein_coding	CBF|CBF2|HSP-CBF|NOC1	2p22.2	CCAAT enhancer binding protein zeta	This gene belongs to the CBF/Mak21 family. The encoded protein plays a role in cellular response to environmental stimuli through a transcriptional process that involves heat shock factors, conserved DNA elements (heat shock elements or HSEs) and CCAAT boxes. The protein acts as a DNA-binding transcriptional activator and regulates the heat-shock protein 70 (HSP70) promoter in a CCAAT-dependent manner. The protein is also involved in cell growth and differentiation, particularly, hematopoietic differentiation. [provided by RefSeq, Nov 2020]
CEBPZOS	chr2	37196488	37216193	+	ENSG00000218739.9	protein_coding	CEBPZ-AS1	2p22.2	CEBPZ opposite strand	Predicted to be located in mitochondrial membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
CEL	chr9	133061978	133071861	+	ENSG00000170835.14	protein_coding	BAL|BSDL|BSSL|CELL|CEase|FAP|FAPP|LIPA|MODY8	9q34.13	carboxyl ester lipase	The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis and absorption. This encoded protein promotes large chylomicron production in the intestine. Also its presence in plasma suggests its interactions with cholesterol and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic tumoral cells, this encoded protein is thought to be sequestrated within the Golgi compartment and is probably not secreted. This gene contains a variable number of tandem repeat (VNTR) polymorphism in the coding region that may influence the function of the encoded protein. [provided by RefSeq, Jul 2008]
CELA1	chr12	51328443	51346679	-	ENSG00000139610.1	protein_coding	ELA1	12q13.13	chymotrypsin like elastase 1	Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, pancreatic elastase 1 is not expressed in the pancreas. To date, elastase 1 expression has only been detected in skin keratinocytes. Clinical literature that describes human elastase 1 activity in the pancreas or fecal material is actually referring to chymotrypsin-like elastase family, member 3B. [provided by RefSeq, May 2009]
CELA2A	chr1	15456728	15472091	+	ENSG00000142615.7	protein_coding	AOMS4|ELA2A|PE-1	1p36.21	chymotrypsin like elastase 2A	Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Like most of the human elastases, elastase 2A is secreted from the pancreas as a zymogen. In other species, elastase 2A has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. [provided by RefSeq, May 2009]
CELA2B	chr1	15465909	15491400	+	ENSG00000215704.9	protein_coding	ELA2B	1p36.21	chymotrypsin like elastase 2B	Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Like most of the human elastases, elastase 2B is secreted from the pancreas as a zymogen. In other species, elastase 2B has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. [provided by RefSeq, Jul 2008]
CELA3A	chr1	22001656	22012539	+	ENSG00000142789.19	protein_coding	ELA3|ELA3A	1p36.12	chymotrypsin like elastase 3A	Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3A has little elastolytic activity. Like most of the human elastases, elastase 3A is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3A preferentially cleaves proteins after alanine residues. Elastase 3A may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1. [provided by RefSeq, Jul 2008]
CELA3B	chr1	21977021	21998642	+	ENSG00000219073.7	protein_coding	CBPP|ELA3B	1p36.12	chymotrypsin like elastase 3B	Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3B has little elastolytic activity. Like most of the human elastases, elastase 3B is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3B preferentially cleaves proteins after alanine residues. Elastase 3B may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1, and excretion of this protein in fecal material is frequently used as a measure of pancreatic function in clinical assays. [provided by RefSeq, May 2009]
CELF1	chr11	47465944	47565569	-	ENSG00000149187.17	protein_coding	BRUNOL2|CUG-BP|CUGBP|CUGBP1|EDEN-BP|NAB50|NAPOR|hNab50	11p11.2	CUGBP Elav-like family member 1	Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. This gene may play a role in myotonic dystrophy type 1 (DM1) via interactions with the dystrophia myotonica-protein kinase (DMPK) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
CELF2	chr10	10798397	11336675	+	ENSG00000048740.18	protein_coding	BRUNOL3|CELF-2|CUG-BP2|CUGBP2|DEE97|ETR-3|ETR3|NAPOR	10p14	CUGBP Elav-like family member 2	Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
CELF2-AS1	chr10	11316834	11319884	-	ENSG00000181800.5	antisense	C10orf31	10p14	CELF2 antisense RNA 1	Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
CELF3	chr1	151702404	151716814	-	ENSG00000159409.14	protein_coding	BRUNOL1|CAGH4|ERDA4|ETR-1|TNRC4	1q21.3	CUGBP Elav-like family member 3	Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]
CELF4	chr18	37243047	37566037	-	ENSG00000101489.19	protein_coding	BRUNOL4|CELF-4	18q12.2	CUGBP Elav-like family member 4	Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
CELF5	chr19	3224703	3297076	+	ENSG00000161082.12	protein_coding	BRUNOL-5|BRUNOL5|CELF-5	19p13.3	CUGBP Elav-like family member 5	This gene encodes a member of the the CELF/BRUNOL protein family, which contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing and translation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
CELF6	chr15	72284727	72320129	-	ENSG00000140488.15	protein_coding	BRUNOL6	15q23	CUGBP Elav-like family member 6	Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]
CELP	chr9	133079900	133087355	+	ENSG00000170827.9	transcribed_unprocessed_pseudogene	CELL|cell1|cell2|cell3	9q34.13	carboxyl ester lipase pseudogene	Restricted expression toward pancreas (RPKM 10770.7)
CELSR1	chr22	46360834	46537170	-	ENSG00000075275.16	protein_coding	ADGRC1|CDHF9|FMI2|HFMI2|LMPHM9|ME2	22q13.31	cadherin EGF LAG seven-pass G-type receptor 1	The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008]
CELSR2	chr1	109250019	109275750	+	ENSG00000143126.7	protein_coding	ADGRC2|CDHF10|EGFL2|Flamingo1|MEGF3	1p13.3	cadherin EGF LAG seven-pass G-type receptor 2	The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]
CELSR3	chr3	48636469	48662915	-	ENSG00000008300.16	protein_coding	ADGRC3|CDHF11|EGFL1|FMI1|HFMI1|MEGF2|RESDA1	3p21.31	cadherin EGF LAG seven-pass G-type receptor 3	This gene belongs to the flamingo subfamily, which is included in the cadherin superfamily. The flamingo cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine cadherin domains and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 2013]
CEMIP	chr15	80779343	80951776	+	ENSG00000103888.16	protein_coding	CCSP1|HYBID|KIAA1199|TMEM2L	15q25.1	cell migration inducing hyaluronidase 1	Enables several functions, including clathrin heavy chain binding activity; hyaluronic acid binding activity; and hyalurononglucosaminidase activity. Involved in several processes, including hyaluronan catabolic process; positive regulation of protein phosphorylation; and positive regulation of transport. Located in clathrin-coated endocytic vesicle; endoplasmic reticulum; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
CEMIP2	chr9	 71683366	71769466	-	ENSG00000135048	protein-coding	TMEM2	9q21.13	cell migration inducing hyaluronidase 2	This gene encodes a type II transmembrane protein that belongs to the interferon-induced transmembrane (IFITM) protein superfamily. The encoded protein functions as a cell surface hyaluronidase that cleaves extracellular high molecular weight hyaluronan into intermediate size fragments before internalization and degradation in the lysosome. It also has an interferon-mediated antiviral function in humans through activation of the JAK STAT signaling pathway. The activation of this gene by transcription factor SOX4 in breast cancer cells has been shown to mediate the pathological effects of SOX4 on cancer progression. Naturally occurring mutations in this gene are associated with autosomal recessive non-syndromic hearing loss. [provided by RefSeq, Mar 2017]
CENATAC	chr11	 118998138	119015793	+	ENSG00000186166	protein-coding	CCDC84|DLNB14	11q23.3	centrosomal AT-AC splicing factor	-
CEND1	chr11	787104	790123	-	ENSG00000184524.5	protein_coding	BM88	11p15.5	cell cycle exit and neuronal differentiation 1	The protein encoded by this gene is a neuron-specific protein. The similar protein in pig enhances neuroblastoma cell differentiation in vitro and may be involved in neuronal differentiation in vivo. Multiple pseudogenes have been reported for this gene. [provided by RefSeq, Jul 2008]
CENPA	chr2	26764289	26801067	+	ENSG00000115163.14	protein_coding	CENP-A|CenH3	2p23.3	centromere protein A	Centromeres are the differentiated chromosomal domains that specify the mitotic behavior of chromosomes. This gene encodes a centromere protein which contains a histone H3 related histone fold domain that is required for targeting to the centromere. Centromere protein A is proposed to be a component of a modified nucleosome or nucleosome-like structure in which it replaces 1 or both copies of conventional histone H3 in the (H3-H4)2 tetrameric core of the nucleosome particle. The protein is a replication-independent histone that is a member of the histone H3 family. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2015]
CENPB	chr20	3783851	3786690	-	ENSG00000125817.7	protein_coding	-	20p13	centromere protein B	-
CENPBD1P	chr16	 89969775	89972496	-	ENSG00000177946	pseudogene	CENPBD1	16q24.3	CENPB DNA-binding domain containing 1, pseudogene	-
CENPC	chr4	67468748	67545606	-	ENSG00000145241.10	protein_coding	CENP-C|CENPC1|MIF2|hcp-4	4q13.2	centromere protein C	Centromere protein C 1 is a centromere autoantigen and a component of the inner kinetochore plate. The protein is required for maintaining proper kinetochore size and a timely transition to anaphase. A putative pseudogene exists on chromosome 12. [provided by RefSeq, Jul 2008]
CENPE	chr4	103105806	103198409	-	ENSG00000138778.11	protein_coding	CENP-E|KIF10|MCPH13|PPP1R61	4q24	centromere protein E	Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014]
CENPF	chr1	214603195	214664588	+	ENSG00000117724.12	protein_coding	CENF|CILD31|PRO1779|STROMS|hcp-1	1q41	centromere protein F	This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008]
CENPH	chr5	69189548	69210357	+	ENSG00000153044.9	protein_coding	-	5q13.2	centromere protein H	Broad expression in testis (RPKM 14.9), bone marrow (RPKM 9.5) and 20 other tissues
CENPK	chr5	65517766	65563171	-	ENSG00000123219.12	protein_coding	AF5alpha|CENP-K|FKSG14|P33|Solt	5q12.3	centromere protein K	CENPK is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]
CENPL	chr1	173799550	173824720	-	ENSG00000120334.15	protein_coding	C1orf155|CENP-L|dJ383J4.3	1q25.1	centromere protein L	CENPL is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006) [PubMed 16622420].[supplied by OMIM, Mar 2008]
CENPM	chr22	41938721	41947164	-	ENSG00000100162.14	protein_coding	C22orf18|CENP-M|PANE1	22q13.2	centromere protein M	The protein encoded by this gene is an inner protein of the kinetochore, the multi-protein complex that binds spindle microtubules to regulate chromosome segregation during cell division. It belongs to the constitutive centromere-associated network protein group, whose members interact with outer kinetochore proteins and help to maintain centromere identity at each cell division cycle. The protein is structurally related to GTPases but cannot bind guanosine triphosphate. A point mutation that affects interaction with another constitutive centromere-associated network protein, CENP-I, impairs kinetochore assembly and chromosome alignment, suggesting that it is required for kinetochore formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
CENPO	chr2	24793136	24822376	+	ENSG00000138092.10	protein_coding	CENP-O|ICEN-36|MCM21R	2p23.3	centromere protein O	This gene encodes a component of the interphase centromere complex. The encoded protein is localized to the centromere throughout the cell cycle and is required for bipolar spindle assembly, chromosome segregation and checkpoint signaling during mitosis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
CENPP	chr9	92325484	92620533	+	ENSG00000188312.13	protein_coding	CENP-P	9q22.31	centromere protein P	CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]
CENPQ	chr6	49463378	49493107	+	ENSG00000031691.6	protein_coding	C6orf139|CENP-Q	6p12.3	centromere protein Q	CENPQ is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]
CENPS	chr1	10430443	10442809	+	ENSG00000175279.21	protein_coding	APITD1|CENP-S|FAAP16|MHF1	1p36.22	centromere protein S	This gene was identified in the neuroblastoma tumor suppressor candidate region on chromosome 1p36. It contains a TFIID-31 domain, similar to that found in TATA box-binding protein-associated factor, TAF(II)31, which is required for p53-mediated transcription activation. This gene was expressed at very low levels in neuroblastoma tumors, and was shown to reduce cell growth in neuroblastoma cells, suggesting that it may have a role in a cell death pathway. The protein is a component of multiple complexes, including the Fanconi anemia (FA) core complex, the APITD1/CENPS complex, and the CENPA-CAD (nucleosome distal) complex. Known functions include an involvement with chromatin associations of the FA core complex, and a role in the stable assembly of the outer kinetochore. Alternative splicing of this gene results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream cortistatin (CORT) gene, as represented in GeneID:100526739. An APITD1-related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2010]
CENPT	chr16	67828157	67847811	-	ENSG00000102901.12	protein_coding	C16orf56|CENP-T|SSMGA	16q22.1	centromere protein T	The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). CENPT is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]
CENPU	chr4	184694618	184734133	-	ENSG00000151725.11	protein_coding	CENP50|CENPU50|KLIP1|MLF1IP|PBIP1	4q35.1	centromere protein U	The centromere is a specialized chromatin domain, present throughout the cell cycle, that acts as a platform on which the transient assembly of the kinetochore occurs during mitosis. All active centromeres are characterized by the presence of long arrays of nucleosomes in which CENPA (MIM 117139) replaces histone H3 (see MIM 601128). MLF1IP, or CENPU, is an additional factor required for centromere assembly (Foltz et al., 2006 [PubMed 16622419]).[supplied by OMIM, Mar 2008]
CENPV	chr17	16342534	16353656	-	ENSG00000166582.9	protein_coding	3110013H01Rik|CENP-V|PRR6|p30	17p11.2	centromere protein V	Broad expression in small intestine (RPKM 17.0), duodenum (RPKM 16.5) and 25 other tissues
CENPW	chr6	126340174	126348875	+	ENSG00000203760.8	protein_coding	C6orf173|CENP-W|CUG2	6q22.32	centromere protein W	Broad expression in bone marrow (RPKM 2.8), testis (RPKM 2.0) and 20 other tissues
CENPX	chr17	82018702	82024107	-	ENSG00000169689.14	protein_coding	CENP-X|D9|FAAP10|MHF2|STRA13	17q25.3	centromere protein X	Enables DNA binding activity. Contributes to double-stranded DNA binding activity. Involved in replication fork processing and resolution of meiotic recombination intermediates. Part of FANCM-MHF complex and Fanconi anaemia nuclear complex. [provided by Alliance of Genome Resources, Apr 2022]
CEP104	chr1	3812081	3857214	-	ENSG00000116198.12	protein_coding	CFAP256|GlyBP|JBTS25|KIAA0562|ROC22	1p36.32	centrosomal protein 104	This gene encodes a centrosomal protein required for ciliogenesis and for ciliary tip structural integrity. The mammalian protein contains three amino-terminal hydrophobic domains, two glycosylation sites, four cysteine-rich motifs, and two regions with homology to the glutamate receptor ionotropic, NMDA 1 protein. During ciliogenesis, the encoded protein translocates from the distal tips of the centrioles to the tip of the elongating cilium. Knockdown of the protein in human retinal pigment cells results in severe defects in ciliogenesis with structural deformities at the ciliary tips. Allelic variants of this gene are associated with the autosomal-recessive disorder Joubert syndrome, which is characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor apraxia, irregular breathing, developmental delay, and ataxia. [provided by RefSeq, Feb 2016]
CEP112	chr17	65635538	66192084	-	ENSG00000154240.16	protein_coding	CCDC46|MACOCO|SPGF44	17q24.1	centrosomal protein 112	This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
CEP120	chr5	123344885	123423592	-	ENSG00000168944.15	protein_coding	CCDC100|JBTS31|SRTD13	5q23.2	centrosomal protein 120	This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
CEP126	chr11	101915015	102001058	+	ENSG00000110318.13	protein_coding	KIAA1377	11q22.1	centrosomal protein 126	Broad expression in testis (RPKM 8.6), ovary (RPKM 3.0) and 20 other tissues
CEP128	chr14	80476983	80959517	-	ENSG00000100629.16	protein_coding	C14orf145|C14orf61|LEDP/132	14q31.1	centrosomal protein 128	Low expression observed in reference dataset
CEP131	chr17	81189593	81222999	-	ENSG00000141577.13	protein_coding	AZ1|AZI1|ZA1	17q25.3	centrosomal protein 131	Broad expression in testis (RPKM 7.3), spleen (RPKM 3.7) and 25 other tissues
CEP135	chr4	55948871	56033363	+	ENSG00000174799.10	protein_coding	CEP4|KIAA0635|MCPH8	4q12	centrosomal protein 135	This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]
CEP152	chr15	48712928	48811146	-	ENSG00000103995.13	protein_coding	MCPH4|MCPH9|SCKL5	15q21.1	centrosomal protein 152	This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
CEP164	chr11	117314557	117413268	+	ENSG00000110274.15	protein_coding	NPHP15	11q23.3	centrosomal protein 164	This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
CEP164P1	chr10	45002222	45076066	-	ENSG00000226937.9	transcribed_processed_pseudogene	-	10q11.21	centrosomal protein 164 pseudogene 1	-
CEP170	chr1	243124428	243255348	-	ENSG00000143702.15	protein_coding	FAM68A|KAB|KIAA0470	1q43	centrosomal protein 170	The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining microtubule organization and cell morphology. The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
CEP170B	chr14	104865280	104896770	+	ENSG00000099814.15	protein_coding	CEP170R|FAM68C|KIAA0284	14q32.33	centrosomal protein 170B	Predicted to be located in cytoplasm and microtubule. [provided by Alliance of Genome Resources, Apr 2022]
CEP19	chr3	196706277	196712293	-	ENSG00000174007.7	protein_coding	C3orf34|MOSPGF	3q29	centrosomal protein 19	The protein encoded by this gene localizes to centrosomes and primary cilia and co-localizes with a marker for the mother centriole. This gene resides in a region of human chromosome 3 that is linked to morbid obesity. A homozygous knockout of the orthologous gene in mouse resulted in mice with morbid obesity, hyperphagy, glucose intolerance, and insulin resistance. Mutations in this gene cause morbid obesity and spermatogenic failure (MOSPGF). This gene has a pseudogene on human chromosome 2. [provided by RefSeq, Apr 2014]
CEP192	chr18	12991362	13125052	+	ENSG00000101639.18	protein_coding	PPP1R62	18p11.21	centrosomal protein 192	Ubiquitous expression in testis (RPKM 8.2), gall bladder (RPKM 6.1) and 25 other tissues
CEP20	chr16	 15865719	15888603	-	ENSG00000133393	protein-coding	C16orf63|FOPNL|FOR20|PHSECRG2	16p13.11	centrosomal protein 20	-
CEP250	chr20	35455164	35519280	+	ENSG00000126001.15	protein_coding	C-NAP1|CEP2|CNAP1|CRDHL2	20q11.22	centrosomal protein 250	This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
CEP290	chr12	88049014	88142216	-	ENSG00000198707.14	protein_coding	3H11Ag|BBS14|CT87|JBTS5|LCA10|MKS4|NPHP6|POC3|SLSN6|rd16	12q21.32	centrosomal protein 290	This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008]
CEP295	chr11	93661639	93730358	+	ENSG00000166004.14	protein_coding	KIAA1731	11q21	centrosomal protein 295	Ubiquitous expression in testis (RPKM 2.8), lymph node (RPKM 2.0) and 25 other tissues
CEP295NL	chr17	78870910	78903217	-	ENSG00000178404.9	protein_coding	DDC8|KIAA1731NL	17q25.3	CEP295 N-terminal like	Predicted to enable microtubule binding activity. Predicted to be involved in regulation of centriole replication. Predicted to be located in motile cilium. Predicted to be active in centriole; centrosome; and cytosol. [provided by Alliance of Genome Resources, Apr 2022]
CEP350	chr1	179954738	180114880	+	ENSG00000135837.15	protein_coding	CAP350|GM133	1q25.2	centrosomal protein 350	The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
CEP41	chr7	130393771	130442433	-	ENSG00000106477.18	protein_coding	JBTS15|TSGA14	7q32.2	centrosomal protein 41	This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
CEP43	chr6	 166999397	167052718	+	ENSG00000213066	protein-coding	FGFR1OP|FOP	6q27	centrosomal protein 43	-
CEP44	chr4	174283677	174333380	+	ENSG00000164118.12	protein_coding	KIAA1712|PS1TP3	4q34.1	centrosomal protein 44	Ubiquitous expression in testis (RPKM 3.4), endometrium (RPKM 3.1) and 25 other tissues
CEP55	chr10	93496632	93529092	+	ENSG00000138180.15	protein_coding	C10orf3|CT111|MARCH|URCC6	10q23.33	centrosomal protein 55	Broad expression in testis (RPKM 13.8), lymph node (RPKM 8.3) and 14 other tissues
CEP57	chr11	95789965	95832693	+	ENSG00000166037.10	protein_coding	MVA2|PIG8|TSP57	11q21	centrosomal protein 57	This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
CEP57L1	chr6	109095110	109163932	+	ENSG00000183137.14	protein_coding	C6orf182|bA487F23.2|cep57R	6q21	centrosomal protein 57 like 1	Ubiquitous expression in testis (RPKM 2.6), brain (RPKM 1.5) and 25 other tissues
CEP63	chr3	134485743	134575017	+	ENSG00000182923.16	protein_coding	SCKL6	3q22.2	centrosomal protein 63	This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
CEP68	chr2	65056366	65087004	+	ENSG00000011523.13	protein_coding	KIAA0582	2p14	centrosomal protein 68	Ubiquitous expression in brain (RPKM 8.3), ovary (RPKM 8.1) and 25 other tissues
CEP70	chr3	138494344	138594538	-	ENSG00000114107.8	protein_coding	BITE	3q22.3	centrosomal protein 70	Broad expression in testis (RPKM 11.4), duodenum (RPKM 7.8) and 22 other tissues
CEP72	chr5	612272	667168	+	ENSG00000112877.7	protein_coding	-	5p15.33	centrosomal protein 72	Ubiquitous expression in lung (RPKM 2.7), thyroid (RPKM 2.2) and 25 other tissues
CEP76	chr18	12661833	12702777	-	ENSG00000101624.10	protein_coding	C18orf9|HsT1705	18p11.21	centrosomal protein 76	This gene encodes a centrosomal protein which regulates centriole amplification by limiting centriole duplication to once per cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
CEP83	chr12	94306449	94459988	-	ENSG00000173588.14	protein_coding	CCDC41|NPHP18|NY-REN-58	12q22	centrosomal protein 83	The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]
CEP85	chr1	26234153	26279038	+	ENSG00000130695.14	protein_coding	CCDC21	1p36.11	centrosomal protein 85	This gene encodes a protein that belongs to the centrosome-associated family of proteins. The centrosome is a subcellular organelle in the animal cell that functions as a microtubule organizing center and is involved in cell-cycle progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
CEP85L	chr6	118460772	118710075	-	ENSG00000111860.13	protein_coding	C6orf204|LIS10|NY-BR-15|bA57K17.2	6q22.31	centrosomal protein 85 like	The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
CEP89	chr19	32875925	32971991	-	ENSG00000121289.17	protein_coding	CCDC123|CEP123	19q13.11	centrosomal protein 89	Ubiquitous expression in ovary (RPKM 2.9), endometrium (RPKM 2.6) and 25 other tissues
CEP95	chr17	64506588	64542461	+	ENSG00000258890.6	protein_coding	CCDC45	17q23.3	centrosomal protein 95	Ubiquitous expression in testis (RPKM 9.3), bone marrow (RPKM 8.3) and 25 other tissues
CEP97	chr3	101723925	101770562	+	ENSG00000182504.10	protein_coding	2810403B08Rik|LRRIQ2	3q12.3	centrosomal protein 97	Ubiquitous expression in testis (RPKM 4.1), brain (RPKM 4.0) and 24 other tissues
CEPT1	chr1	111139627	111185102	+	ENSG00000134255.13	protein_coding	-	1p13.3	choline/ethanolamine phosphotransferase 1	Ubiquitous expression in spleen (RPKM 19.9), lymph node (RPKM 17.1) and 25 other tissues
CERCAM	chr9	128411751	128437351	+	ENSG00000167123.18	protein_coding	CEECAM1|GLT25D3	9q34.11	cerebral endothelial cell adhesion molecule	Broad expression in brain (RPKM 35.8), placenta (RPKM 14.3) and 19 other tissues
CERK	chr22	46684411	46738261	-	ENSG00000100422.13	protein_coding	LK4|dA59H18.2|dA59H18.3|hCERK	22q13.31	ceramide kinase	CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008]
CERKL	chr2	181536676	181680665	-	ENSG00000188452.13	protein_coding	RP26	2q31.3	ceramide kinase like	This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010]
CERS1	chr19	18868545	18896727	-	ENSG00000223802.7	protein_coding	EPM8|GDF-1|GDF1|LAG1|LASS1|UOG1	19p13.11	ceramide synthase 1	This gene encodes a ceramide synthase enzyme, which catalyzes the synthesis of ceramide, the hydrophobic moiety of sphingolipids. The encoded enzyme synthesizes 18-carbon (C18) ceramide in brain neurons. Elevated expression of this gene may be associated with increased longevity, while decreased expression of this gene may be associated with myoclonus epilepsy with dementia in human patients. This protein is transcribed from a monocistronic mRNA as well as a bicistronic mRNA, which also encodes growth differentiation factor 1. [provided by RefSeq, Jul 2016]
CERS2	chr1	150960583	150975004	-	ENSG00000143418.19	protein_coding	L3|LASS2|SP260|TMSG1	1q21.3	ceramide synthase 2	This gene encodes a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein may play a role in the regulation of cell growth. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
CERS3	chr15	100400395	100544995	-	ENSG00000154227.13	protein_coding	ARCI9|LASS3	15q26.3	ceramide synthase 3	This gene is a member of the ceramide synthase family of genes. The ceramide synthase enzymes regulate sphingolipid synthesis by catalyzing the formation of ceramides from sphingoid base and acyl-coA substrates. This family member is involved in the synthesis of ceramides with ultra-long-chain acyl moieties (ULC-Cers), important to the epidermis in its role in creating a protective barrier from the environment. The protein encoded by this gene has also been implicated in modification of the lipid structures required for spermatogenesis. Mutations in this gene have been associated with male fertility defects, and epidermal defects, including ichthyosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
CERS3-AS1	chr15	100372939	100437914	+	ENSG00000259430.1	antisense	-	15q26.3	CERS3 antisense RNA 1	-
CERS4	chr19	8206736	8262421	+	ENSG00000090661.11	protein_coding	LASS4|Trh1	19p13.2	ceramide synthase 4	Ubiquitous expression in thyroid (RPKM 13.9), prostate (RPKM 10.3) and 24 other tissues
CERS5	chr12	50129306	50167533	-	ENSG00000139624.12	protein_coding	LASS5|Trh4	12q13.12	ceramide synthase 5	This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
CERS6	chr2	168455862	168775137	+	ENSG00000172292.14	protein_coding	CERS5|LASS6	2q24.3	ceramide synthase 6	Ubiquitous expression in colon (RPKM 18.1), thyroid (RPKM 16.4) and 25 other tissues
CERS6-AS1	chr2	168771953	168786961	-	ENSG00000227617.8	processed_transcript	-	2q24.3	CERS6 antisense RNA 1	-
CERT1	chr5	 75368486	75511981	-	ENSG00000113163	protein-coding	CERT|CERTL|COL4A3BP|GPBP|MRD34|STARD11	5q13.3	ceramide transporter 1	This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
CES1	chr16	55802851	55833337	-	ENSG00000198848.12	protein_coding	ACAT|CE-1|CEH|CES2|HMSE|HMSE1|PCE-1|REH|SES1|TGH|hCE-1	16q12.2	carboxylesterase 1	This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. Mutations of this gene cause carboxylesterase 1 deficiency. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
CES2	chr16	66934444	66945096	+	ENSG00000172831.11	protein_coding	CE-2|CES2A1|PCE-2|iCE	16q22.1	carboxylesterase 2	This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. The protein encoded by this gene is the major intestinal enzyme and functions in intestine drug clearance. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]
CES3	chr16	66961237	66975148	+	ENSG00000172828.12	protein_coding	ES31	16q22.1	carboxylesterase 3	This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene is expressed in several tissues, particularly in colon, trachea and in brain, and the protein participates in colon and neural drug metabolism. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported, but the biological validity and/or full-length nature of some variants have not been determined.[provided by RefSeq, Jun 2010]
CES4A	chr16	66988589	67009758	+	ENSG00000172824.14	protein_coding	CES6|CES8	16q22.1	carboxylesterase 4A	This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES6, encodes a secreted enzyme, and may play a role in the detoxification of drugs and xenobiotics in neural and other tissues of the body and in the cerebrospinal fluid. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Jun 2010]
CETN1	chr18	580357	582114	+	ENSG00000177143.4	protein_coding	CEN1|CETN	18p11.32	centrin 1	The protein encoded by this gene plays important roles in the determination of centrosome position and segregation, and in the process of microtubule severing. This protein is localized to the centrosome of interphase cells, and redistributes to the region of the spindle poles during mitosis, reflecting the dynamic behavior of the centrosome during the cell cycle. [provided by RefSeq, Jan 2015]
CETN3	chr5	90392261	90409786	-	ENSG00000153140.8	protein_coding	CDC31|CEN3	5q14.3	centrin 3	The protein encoded by this gene contains four EF-hand calcium binding domains, and is a member of the centrin protein family. Centrins are evolutionarily conserved proteins similar to the CDC31 protein of S. cerevisiae. Yeast CDC31 is located at the centrosome of interphase and mitotic cells, where it plays a fundamental role in centrosome duplication and separation. Multiple forms of the proteins similar to the yeast centrin have been identified in human and other mammalian cells, some of which have been shown to be associated with centrosome fractions. This protein appears to be one of the most abundant centrins associated with centrosome, which suggests a similar function to its yeast counterpart. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
CETP	chr16	56961850	56983845	+	ENSG00000087237.10	protein_coding	BPIFF|HDLCQ10	16q13	cholesteryl ester transfer protein	The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
CFAP100	chr3	126394939	126436556	+	ENSG00000163885.11	protein_coding	CCDC37|MIA1	3q21.3	cilia and flagella associated protein 100	Predicted to enable dynein complex binding activity. Predicted to be involved in cilium movement and inner dynein arm assembly. Located in ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022]
CFAP119	chr16	 30757423	30762062	-	ENSG00000196118	protein-coding	C16orf93|CCDC189	16p11.2	cilia and flagella associated protein 119	-
CFAP126	chr1	161364731	161367874	-	ENSG00000188931.3	protein_coding	C1orf192|Flattop|Fltp	1q23.3	cilia and flagella associated protein 126	Ubiquitous expression in liver (RPKM 108.4), fat (RPKM 105.1) and 25 other tissues
CFAP161	chr15	81007033	81149175	+	ENSG00000156206.13	protein_coding	C15orf26	15q25.1	cilia and flagella associated protein 161	Biased expression in testis (RPKM 2.9), lung (RPKM 0.8) and 2 other tissues
CFAP20	chr16	58113588	58129450	-	ENSG00000070761.7	protein_coding	BUG22|C16orf80|EVORF|GTL3|fSAP23	16q21	cilia and flagella associated protein 20	Ubiquitous expression in testis (RPKM 19.9), placenta (RPKM 16.9) and 25 other tissues
CFAP206	chr6	87407983	87464465	+	ENSG00000272514.5	protein_coding	C6orf165|dJ382I10.1	6q15	cilia and flagella associated protein 206	Restricted expression toward testis (RPKM 41.8)
CFAP210	chr2	 169645425	169694405	-	ENSG00000154479	protein-coding	C2orf77|CCDC173	2q31.1	cilia and flagella associated protein 210	-
CFAP221	chr2	119544432	119662251	+	ENSG00000163075.12	protein_coding	FAP221|PCDP1	2q14.2	cilia and flagella associated protein 221	Biased expression in testis (RPKM 7.5), lung (RPKM 1.6) and 9 other tissues
CFAP251	chr12	 121918592	122003919	+	ENSG00000158023	protein-coding	CaM-IP4|SPGF33|WDR66	12q24.31	cilia and flagella associated protein 251	-
CFAP276	chr1	 109105951	109113831	-	ENSG00000179902	protein-coding	C10orf194|C1orf194	1p13.3	cilia and flagella associated protein 276	-
CFAP298	chr21	 32599354	32612377	-	ENSG00000159079	protein-coding	C21orf48|C21orf59|CILD26|FBB18|Kur	21q22.11	cilia and flagella associated protein 298	This gene encodes a protein that plays a critical role in dynein arm assembly and motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Naturally occuring readthrough transcription occurs from this locus to the downstream t-complex 10 like (TCP10L) gene. [provided by RefSeq, Apr 2017]
CFAP299	chr4	 80321265	80963750	+	ENSG00000197826	protein-coding	C4orf22	4q21.21	cilia and flagella associated protein 299	Restricted expression toward testis (RPKM 1.7)
CFAP300	chr11	 102047437	102084554	+	ENSG00000137691	protein-coding	C11orf70|CILD38|FBB5	11q22.1	cilia and flagella associated protein 300	Predicted to be located in cytoplasm and motile cilium. Implicated in primary ciliary dyskinesia 38. [provided by Alliance of Genome Resources, Apr 2022]
CFAP36	chr2	55519604	55545879	+	ENSG00000163001.11	protein_coding	BARTL1|CCDC104	2p16.1	cilia and flagella associated protein 36	Broad expression in testis (RPKM 36.7), thyroid (RPKM 18.8) and 24 other tissues
CFAP410	chr21	 44328944	44339390	-	ENSG00000160226	protein-coding	C21orf2|LRRC76|RDMS|SMDAX|YF5/A2	21q22.3	cilia and flagella associated protein 410	Four alternatively spliced transcript variants encoding four different isoforms have been found for this nuclear gene. All isoforms contain leucine-rich repeats. Three of these isoforms are mitochondrial proteins and one of them lacks the target peptide, so is not located in mitochondrion. This gene is down-regulated in Down syndrome (DS) brain, which may represent mitochondrial dysfunction in DS patients. [provided by RefSeq, Sep 2012]
CFAP418	chr8	 95244913	95269201	-	ENSG00000156172	protein-coding	BBS21|C8orf37|CORD16|FAP418|MOT25|RP64|smalltalk	8q22.1	cilia and flagella associated protein 418	-
CFAP43	chr10	104129888	104232362	-	ENSG00000197748.12	protein_coding	C10orf79|HYDNP1|SPGF19|WDR96|bA373N18.2	10q25.1	cilia and flagella associated protein 43	This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016]
CFAP44	chr3	113286947	113441610	-	ENSG00000206530.10	protein_coding	SPGF20|WDR52	3q13.2	cilia and flagella associated protein 44	Ubiquitous expression in testis (RPKM 3.1), skin (RPKM 2.1) and 25 other tissues
CFAP44-AS1	chr3	113403991	113433992	+	ENSG00000243849.1	antisense	WDR52-AS1	3q13.2	CFAP44 antisense RNA 1	Broad expression in testis (RPKM 3.3), endometrium (RPKM 0.6) and 18 other tissues
CFAP45	chr1	159872364	159900163	-	ENSG00000213085.9	protein_coding	CCDC19|NESG1	1q23.2	cilia and flagella associated protein 45	Biased expression in testis (RPKM 17.3), lung (RPKM 4.0) and 1 other tissue
CFAP46	chr10	132808392	132942823	-	ENSG00000171811.13	protein_coding	C10orf123|C10orf124|C10orf92|C10orf93|TTC40|bA288G11.4|bA288G11.5|bB137A17.2|bB137A17.3	10q26.3	cilia and flagella associated protein 46	Biased expression in testis (RPKM 5.8), stomach (RPKM 0.9) and 3 other tissues
CFAP53	chr18	50227193	50266522	-	ENSG00000172361.5	protein_coding	CCDC11|HTX6	18q21.1	cilia and flagella associated protein 53	This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning. [provided by RefSeq, Aug 2015]
CFAP58	chr10	104353764	104455090	+	ENSG00000120051.14	protein_coding	C10orf80|CCDC147|SPGF49|bA127L20.4|bA127L20.5|bA554P13.1	10q25.1	cilia and flagella associated protein 58	Biased expression in testis (RPKM 3.8), endometrium (RPKM 0.6) and 2 other tissues
CFAP61	chr20	20052514	20360702	+	ENSG00000089101.17	protein_coding	C20orf26|CaM-IP3|dJ1002M8.3|dJ1178H5.4	20p11.23	cilia and flagella associated protein 61	Biased expression in testis (RPKM 3.3), heart (RPKM 1.5) and 2 other tissues
CFAP65	chr2	219002846	219041527	-	ENSG00000181378.13	protein_coding	CCDC108|SPGF40	2q35	cilia and flagella associated protein 65	The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. The chicken ortholog of this gene is involved in the Rose-comb mutation, which is a large chromosome inversion, resulting in altered comb morphology and defects in sperm motility. [provided by RefSeq, Aug 2016]
CFAP69	chr7	90245174	90311063	+	ENSG00000105792.19	protein_coding	C7orf63|FAP69|SPGF24	7q21.13	cilia and flagella associated protein 69	Broad expression in prostate (RPKM 3.6), testis (RPKM 1.8) and 20 other tissues
CFAP70	chr10	73253759	73358859	-	ENSG00000156042.17	protein_coding	SPGF41|TTC18	10q22.2	cilia and flagella associated protein 70	Biased expression in testis (RPKM 8.3), thyroid (RPKM 2.0) and 13 other tissues
CFAP74	chr1	1921951	2003837	-	ENSG00000142609.17	protein_coding	C1orf222|KIAA1751	1p36.33	cilia and flagella associated protein 74	Biased expression in testis (RPKM 3.3), lung (RPKM 0.8) and 1 other tissue
CFAP77	chr9	132410043	132573317	+	ENSG00000188523.8	protein_coding	C9orf171	9q34.13	cilia and flagella associated protein 77	Restricted expression toward testis (RPKM 4.9)
CFAP91	chr3	 119703022	119767102	+	ENSG00000183833	protein-coding	AAT1|AAT1alpha|C3orf15|CaM-IP2|MAATS1|SPATA26|SPGF51	3q13.33	cilia and flagella associated protein 91	-
CFAP92	chr3	 128909873	129026748	-	ENSG00000114656	protein-coding	FAP92|KIAA1257	3q21.3	cilia and flagella associated protein 92 (putative)	-
CFAP97D1	chr17	 43780435	43787620	+	ENSG00000231256	protein-coding	C17orf105	17q21.31	CFAP97 domain containing 1	Restricted expression toward testis (RPKM 11.1)
CFAP99	chr4	2418974	2462942	+	ENSG00000206113.10	protein_coding	-	4p16.3	cilia and flagella associated protein 99	Biased expression in testis (RPKM 5.5), lung (RPKM 0.5) and 1 other tissue
CFB	chr6	31945650	31952084	+	ENSG00000243649.8	protein_coding	AHUS4|ARMD14|BF|BFD|CFAB|CFBD|FB|FBI12|GBG|H2-Bf|PBF2	6p21.33	complement factor B	This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5 end of the gene for complement component 2. [provided by RefSeq, Jul 2008]
CFD	chr19	859643	863630	+	ENSG00000197766.7	protein_coding	ADIPSIN|ADN|DF|PFD	19p13.3	complement factor D	This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine, a cell signaling protein secreted by adipocytes, which regulates insulin secretion in mice. Mutations in this gene underlie complement factor D deficiency, which is associated with recurrent bacterial meningitis infections in human patients. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protease. [provided by RefSeq, Nov 2015]
CFDP1	chr16	75293698	75433485	-	ENSG00000153774.8	protein_coding	BCNT|BUCENTAUR|CENP-29|CP27|SWC5|Yeti|p97	16q23.1	craniofacial development protein 1	Ubiquitous expression in testis (RPKM 25.6), kidney (RPKM 23.5) and 25 other tissues
CFH	chr1	196651878	196747504	+	ENSG00000000971.15	protein_coding	AHUS1|AMBP1|ARMD4|ARMS1|CFHL3|FH|FHL1|HF|HF1|HF2|HUS	1q31.3	complement factor H	This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]
CFHR1	chr1	196819757	196832189	+	ENSG00000244414.6	protein_coding	CFHL|CFHL1|CFHL1P|CFHR1P|FHR-1|FHR1|H36|H36-1|H36-2|HFL1|HFL2	1q31.3	complement factor H related 1	This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009]
CFHR3	chr1	196774795	196795406	+	ENSG00000116785.13	protein_coding	CFHL3|DOWN16|FHR-3|FHR3|HLF4	1q31.3	complement factor H related 3	The protein encoded by this gene is a secreted protein, which belongs to the complement factor H-related protein family. It binds to heparin, and may be involved in complement regulation. Mutations in this gene are associated with decreased risk of age-related macular degeneration, and with an increased risk of atypical hemolytic-uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
CFHR4	chr1	196850241	196918972	+	ENSG00000134365.12	protein_coding	CFHL4|FHR-4|FHR4	1q31.3	complement factor H related 4	This gene is a member of the complement factor H (CFH) gene family, and encodes one of the 5 CFH-related (CFHR) proteins. These 5 genes are closely linked to the CFH gene on chromosome 1q31-q32. The CFHRs are secreted plasma proteins synthesized primarily by the hepatocytes, and composed of highly-related short consensus repeats (SCRs). This protein enhances the cofactor activity of CFH, and is involved in complement regulation. It can associate with lipoproteins and may play a role in lipid metabolism. Alternatively spliced transcript variants encoding different isoforms (varying in the number of SCRs) have been described for this gene. [provided by RefSeq, Jan 2011]
CFI	chr4	109740694	109802179	-	ENSG00000205403.12	protein_coding	AHUS3|ARMD13|C3BINA|C3b-INA|FI|IF|KAF	4q25	complement factor I	This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]
CFL1	chr11	65823022	65862026	-	ENSG00000172757.12	protein_coding	CFL|HEL-S-15|cofilin	11q13.1	cofilin 1	The protein encoded by this gene can polymerize and depolymerize F-actin and G-actin in a pH-dependent manner. Increased phosphorylation of this protein by LIM kinase aids in Rho-induced reorganization of the actin cytoskeleton. Cofilin is a widely distributed intracellular actin-modulating protein that binds and depolymerizes filamentous F-actin and inhibits the polymerization of monomeric G-actin in a pH-dependent manner. It is involved in the translocation of actin-cofilin complex from cytoplasm to nucleus.[supplied by OMIM, Apr 2004]
CFL1P5	chr5	69313371	69313872	-	ENSG00000213830.3	processed_pseudogene	CFLL1|CFLP5	5q13.2	cofilin 1 pseudogene 5	-
CFL1P6	chr1	10990978	10991797	-	ENSG00000215785.2	processed_pseudogene	CFLP6	1p36.22	cofilin 1 pseudogene 6	-
CFL2	chr14	34706769	34714823	-	ENSG00000165410.14	protein_coding	NEM7	14q13.1	cofilin 2	This gene encodes an intracellular protein that is involved in the regulation of actin-filament dynamics. This protein is a major component of intranuclear and cytoplasmic actin rods. It can bind G- and F-actin in a 1:1 ratio of cofilin to actin, and it reversibly controls actin polymerization and depolymerization in a pH-dependent manner. Mutations in this gene cause nemaline myopathy type 7, a form of congenital myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
CFLAR	chr2	201116104	201176687	+	ENSG00000003402.19	protein_coding	CASH|CASP8AP1|CLARP|Casper|FLAME|FLAME-1|FLAME1|FLIP|I-FLICE|MRIT|c-FLIP|c-FLIPL|c-FLIPR|c-FLIPS|cFLIP	2q33.1	CASP8 and FADD like apoptosis regulator	The protein encoded by this gene is a regulator of apoptosis and is structurally similar to caspase-8. However, the encoded protein lacks caspase activity and appears to be itself cleaved into two peptides by caspase-8. Several transcript variants encoding different isoforms have been found for this gene, and partial evidence for several more variants exists. [provided by RefSeq, Feb 2011]
CFLAR-AS1	chr2	201140278	201157823	-	ENSG00000226312.7	antisense	ALS2CR10	2q33.1	CFLAR antisense RNA 1	Ubiquitous expression in appendix (RPKM 5.2), fat (RPKM 5.2) and 25 other tissues
CFP	chrX	47623172	47630305	-	ENSG00000126759.13	protein_coding	BFD|PFC|PFD|PROPERDIN	Xp11.23	complement factor properdin	This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009]
CGA	chr6	87085498	87095406	-	ENSG00000135346.8	protein_coding	CG-ALPHA|FSHA|GPA1|GPHA1|GPHa|HCG|LHA|TSHA	6q14.3	glycoprotein hormones, alpha polypeptide	The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. The protein encoded by this gene is the alpha subunit and belongs to the glycoprotein hormones alpha chain family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
CGAS	chr6	 73423711	73452297	-	ENSG00000164430	protein-coding	C6orf150|MB21D1|h-cGAS	6q13	cyclic GMP-AMP synthase	Broad expression in bone marrow (RPKM 4.9), lymph node (RPKM 3.8) and 24 other tissues
CGB2	chr19	49031912	49033238	+	ENSG00000104818.14	protein_coding	-	19q13.33	chorionic gonadotropin subunit beta 2	Restricted expression toward placenta (RPKM 15.8)
CGB7	chr19	49054275	49058860	-	ENSG00000196337.11	protein_coding	CG-beta-a|CGB6	19q13.33	chorionic gonadotropin subunit beta 7	This gene is a member of the glycoprotein hormone beta chain family and encodes the beta 7 subunit of chorionic gonadotropin (CG). Glycoprotein hormones are heterodimers consisting of a common alpha subunit and an unique beta subunit which confers biological specificity. CG is produced by the trophoblastic cells of the placenta and stimulates the ovaries to synthesize the steroids that are essential for the maintenance of pregnancy. The beta subunit of CG is encoded by 6 genes which are arranged in tandem and inverted pairs on chromosome 19q13.3 and contiguous with the luteinizing hormone beta subunit gene. [provided by RefSeq, Jul 2008]
CGB8	chr19	49047638	49049106	-	ENSG00000213030.5	protein_coding	-	19q13.33	chorionic gonadotropin subunit beta 8	Restricted expression toward placenta (RPKM 35.5)
CGGBP1	chr3	88051944	88149885	-	ENSG00000163320.10	protein_coding	CGGBP|p20-CGGBP	3p11.1	CGG triplet repeat binding protein 1	This gene encodes a CGG repeat-binding protein that primarily localizes to the nucleus. CGG trinucleotide repeats are implicated in many disorders as they often act as transcription- and translation-regulatory elements, can produce hairpin structures which cause DNA replication errors, and form regions prone to chromosomal breakage. CGG repeats are also targets for CpG methylation. In addition to its ability to bind CGG repeats and regulate transcription, this gene is believed to play a role in DNA damage repair and telomere protection. In vitro studies indicate this protein does not bind to methylated CpG sequences. [provided by RefSeq, Jul 2017]
CGN	chr1	151510510	151538692	+	ENSG00000143375.14	protein_coding	-	1q21.3	cingulin	-
CGNL1	chr15	57375967	57550727	+	ENSG00000128849.10	protein_coding	JACOP|PCING	15q21.3	cingulin like 1	This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1. Heterozygous chromosomal rearrangements resulting in association of the promoter for this gene with the aromatase gene are a cause of aromatase excess syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011]
CGREF1	chr2	27098889	27119115	-	ENSG00000138028.15	protein_coding	CGR11	2p23.3	cell growth regulator with EF-hand domain 1	Broad expression in kidney (RPKM 22.2), small intestine (RPKM 16.6) and 14 other tissues
CGRRF1	chr14	54509812	54539309	+	ENSG00000100532.11	protein_coding	CGR19|RNF197	14q22.2	cell growth regulator with ring finger domain 1	Ubiquitous expression in testis (RPKM 10.6), thyroid (RPKM 6.6) and 25 other tissues
CH17-125A10.1	chr1	144276484	144305180	-	ENSG00000276756.4	transcribed_unprocessed_pseudogene	-	-	-	-
CH17-13I23.3	chr1	143419625	143420207	-	ENSG00000277702.1	unprocessed_pseudogene	-	-	-	-
CH17-140K24.6	chr5	141191599	141194088	-	ENSG00000279375.1	antisense	-	-	-	-
CH17-437K3.1	chr1	121396754	121463129	+	ENSG00000227082.1	lincRNA	-	-	-	-
CH17-472G23.1	chr1	120197085	120319680	+	ENSG00000274642.1	unprocessed_pseudogene	-	-	-	-
CH17-472G23.2	chr1	120267334	120341871	-	ENSG00000223804.5	transcribed_unprocessed_pseudogene	-	-	-	-
CH17-53B9.2	chr17	21614487	21641536	+	ENSG00000260157.3	transcribed_unprocessed_pseudogene	-	-	-	-
CH25H	chr10	89205629	89207314	-	ENSG00000138135.6	protein_coding	C25H	10q23.31	cholesterol 25-hydroxylase	This is an intronless gene that is involved in cholesterol and lipid metabolism. The encoded protein is a membrane protein and contains clusters of histidine residues essential for catalytic activity. Unlike most other sterol hydroxylases, this enzyme is a member of a small family of enzymes that utilize diiron cofactors to catalyze the hydroxylation of hydrophobic substrates. [provided by RefSeq, Jul 2008]
CHAC1	chr15	40952962	40956519	+	ENSG00000128965.11	protein_coding	-	15q15.1	ChaC glutathione specific gamma-glutamylcyclotransferase 1	Broad expression in esophagus (RPKM 2.7), pancreas (RPKM 2.0) and 19 other tissues
CHAC2	chr2	53767792	53775196	+	ENSG00000143942.4	protein_coding	GCG1	2p16.2	ChaC glutathione specific gamma-glutamylcyclotransferase 2	The protein encoded by this gene is a gamma-glutamyl cyclotransferase that catalyzes the conversion of glutathione to 5-oxoproline and cysteinylglycine. It is thought that this gene is upregulated in response to endoplasmic reticulum stress and that the glutathione depletion enhances apoptosis. [provided by RefSeq, Sep 2016]
CHAD	chr17	50464496	50468966	-	ENSG00000136457.9	protein_coding	SLRR4A	17q21.33	chondroadherin	Chondroadherin is a cartilage matrix protein thought to mediate adhesion of isolated chondrocytes.  The protein contains 11 leucine-rich repeats flanked by cysteine-rich regions. The chondroadherin messenger RNA is present in chondrocytes at all ages. [provided by RefSeq, Jul 2008]
CHADL	chr22	41229510	41240934	-	ENSG00000100399.15	protein_coding	SLRR4B	22q13.2	chondroadherin like	Ubiquitous expression in brain (RPKM 3.6), prostate (RPKM 1.4) and 25 other tissues
CHAF1A	chr19	4402662	4445018	+	ENSG00000167670.15	protein_coding	CAF-1|CAF1|CAF1B|CAF1P150|P150	19p13.3	chromatin assembly factor 1 subunit A	Chromatin assembly factor I (CAF1) is a nuclear complex consisting of p50, p60 (CHAF1B; MIM 601245), and p150 (CHAF1A) subunits that assembles histone octamers onto replicating DNA in vitro (Kaufman et al., 1995 [PubMed 7600578]).[supplied by OMIM, Mar 2008]
CHAMP1	chr13	114314513	114327328	+	ENSG00000198824.5	protein_coding	C13orf8|CAMP|CHAMP|MRD40|ZNF828	13q34	chromosome alignment maintaining phosphoprotein 1	This gene encodes a zinc finger protein that functions as a regulator of chromosome segregation in mitosis. The encoded protein is required for correct alignment of chromosomes on the metaphase plate, and plays a role in maintaining the attachment of sister kinetochores to microtubules from opposite spindle poles. Mutations in this gene are associated with an autosomal dominant form of intellectual disability. [provided by RefSeq, Jul 2017]
CHASERR	chr15	 92882843	92898747	+	-	ncRNA	LINC01578	15q26.1	CHD2 adjacent suppressive regulatory RNA	-
CHCHD10	chr22	23765834	23768443	-	ENSG00000250479.8	protein_coding	C22orf16|FTDALS2|IMMD|MIX17A|N27C7-4|SMAJ	22q11.23	coiled-coil-helix-coiled-coil-helix domain containing 10	This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]
CHCHD2	chr7	56101569	56106576	-	ENSG00000106153.12	protein_coding	C7orf17|MIX17B|MNRR1|NS2TP|PARK22	7p11.2	coiled-coil-helix-coiled-coil-helix domain containing 2	The protein encoded by this gene belongs to a class of eukaryotic CX(9)C proteins characterized by four cysteine residues spaced ten amino acids apart from one another. These residues form disulfide linkages that define a CHCH fold. In response to stress, the protein translocates from the mitochondrial intermembrane space to the nucleus where it binds to a highly conserved 13 nucleotide oxygen responsive element in the promoter of cytochrome oxidase 4I2, a subunit of the terminal enzyme of the electron transport chain. In concert with recombination signal sequence-binding protein J, binding of this protein activates the oxygen responsive element at four percent oxygen. In addition, it has been shown that this protein is a negative regulator of mitochondria-mediated apoptosis. In response to apoptotic stimuli, mitochondrial levels of this protein decrease, allowing BCL2-associated X protein to oligomerize and activate the caspase cascade. Pseudogenes of this gene are found on multiple chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
CHCHD2P6	chr1	15604597	15605043	+	ENSG00000235084.3	processed_pseudogene	-	1p36.21	coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 6	-
CHCHD3	chr7	132784868	133082088	-	ENSG00000106554.11	protein_coding	MICOS19|MINOS3|Mic19|PPP1R22	7q32.3-q33	coiled-coil-helix-coiled-coil-helix domain containing 3	The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions in ATP production, cell growth, and oxygen consumption. This protein is part of the mitochondrial contact site and cristae organizing system (MICOS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
CHCHD4	chr3	14112077	14124870	-	ENSG00000163528.12	protein_coding	MIA40|TIMM40	3p25.1	coiled-coil-helix-coiled-coil-helix domain containing 4	CHCHD4, a component of human mitochondria, belongs to a protein family whose members share 6 highly conserved cysteine residues constituting a -CXC-CX(9)C-CX(9)C- motif in the C terminus (Hofmann et al., 2005 [PubMed 16185709]).[supplied by OMIM, Mar 2008]
CHCHD5	chr2	112584240	112589275	+	ENSG00000125611.15	protein_coding	C2orf9|CHTM1|MIC14|MIX14	2q14.1	coiled-coil-helix-coiled-coil-helix domain containing 5	Ubiquitous expression in testis (RPKM 3.7), kidney (RPKM 2.9) and 25 other tissues
CHCHD7	chr8	56211686	56218798	+	ENSG00000170791.17	protein_coding	COX23	8q12.1	coiled-coil-helix-coiled-coil-helix domain containing 7	Ubiquitous expression in ovary (RPKM 12.4), kidney (RPKM 11.5) and 25 other tissues
CHD1	chr5	98853985	98928957	-	ENSG00000153922.10	protein_coding	CHD-1|PILBOS	5q15-q21.1	chromodomain helicase DNA binding protein 1	The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains.  CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008]
CHD1-DT	chr5	 98928562	99004021	+	ENSG00000248489	ncRNA	LINC02062	5q21.1	CHD1 divergent transcript	-
CHD1L	chr1	147242641	147295766	+	ENSG00000131778.18	protein_coding	ALC1|CHDL	1q21.1	chromodomain helicase DNA binding protein 1 like	This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Overexpression of this gene has been linked to several types of cancers. [provided by RefSeq, Feb 2017]
CHD3	chr17	7884806	7912760	+	ENSG00000170004.16	protein_coding	Mi-2a|Mi2-ALPHA|SNIBCPS|ZFH	17p13.1	chromodomain helicase DNA binding protein 3	This gene encodes a member of the CHD family of proteins which are characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. This protein is one of the components of a histone deacetylase complex referred to as the Mi-2/NuRD complex which participates in the remodeling of chromatin by deacetylating histones. Chromatin remodeling is essential for many processes including transcription. Autoantibodies against this protein are found in a subset of patients with dermatomyositis. Three alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
CHD5	chr1	6101793	6180123	-	ENSG00000116254.17	protein_coding	CHD-5	1p36.31	chromodomain helicase DNA binding protein 5	This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]
CHD6	chr20	41402101	41618494	-	ENSG00000124177.14	protein_coding	CHD-6|CHD5|RIGB	20q12	chromodomain helicase DNA binding protein 6	This gene encodes a member of the SNF2/RAD54 helicase protein family. The encoded protein contains two chromodomains, a helicase domain, and an ATPase domain. Several multi-subunit protein complexes remodel chromatin to allow patterns of cell type-specific gene expression, and the encoded protein is thought to be a core member of one or more of these chromatin remodeling complexes. The encoded protein may function as a transcriptional repressor and is involved in the cellular repression of influenza virus replication. [provided by RefSeq, Jul 2013]
CHD7	chr8	60678778	60868028	+	ENSG00000171316.11	protein_coding	CRG|HH5|IS3|KAL5	8q12.2	chromodomain helicase DNA binding protein 7	This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
CHD8	chr14	21385194	21456126	-	ENSG00000100888.12	protein_coding	AUTS18|HELSNF1	14q11.2	chromodomain helicase DNA binding protein 8	This gene encodes a member of the chromodomain-helicase-DNA binding protein family, which is characterized by a SNF2-like domain and two chromatin organization modifier domains. The encoded protein also contains brahma and kismet domains, which are common to the subfamily of chromodomain-helicase-DNA binding proteins to which this protein belongs. This gene has been shown to function in several processes that include transcriptional regulation, epigenetic remodeling, promotion of cell proliferation, and regulation of RNA synthesis. Allelic variants of this gene are associated with autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]
CHD9	chr16	53055033	53329150	+	ENSG00000177200.16	protein_coding	AD013|CHD-9|CReMM|KISH2|PRIC320	16q12.2	chromodomain helicase DNA binding protein 9	Ubiquitous expression in thyroid (RPKM 7.0), ovary (RPKM 6.1) and 25 other tissues
CHDH	chr3	53812335	53846390	-	ENSG00000016391.10	protein_coding	-	3p21.1	choline dehydrogenase	Broad expression in kidney (RPKM 17.5), liver (RPKM 4.8) and 14 other tissues
CHEK2	chr22	28687743	28742422	-	ENSG00000183765.20	protein_coding	CDS1|CHK2|HuCds1|LFS2|PP1425|RAD53|hCds1	22q12.1	checkpoint kinase 2	In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor. It contains a forkhead-associated protein interaction domain essential for activation in response to DNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, the encoded protein is known to inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown to stabilize the tumor suppressor protein p53, leading to cell cycle arrest in G1. In addition, this protein interacts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Mutations in this gene have been linked with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53. Also, mutations in this gene are thought to confer a predisposition to sarcomas, breast cancer, and brain tumors. This nuclear protein is a member of the CDS1 subfamily of serine/threonine protein kinases. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
CHERP	chr19	16517889	16542530	-	ENSG00000085872.14	protein_coding	DAN16|SCAF6|SRA1	19p13.11	calcium homeostasis endoplasmic reticulum protein	Ubiquitous expression in testis (RPKM 13.3), spleen (RPKM 10.7) and 25 other tissues
CHFR	chr12	132822187	132956304	-	ENSG00000072609.17	protein_coding	RNF116|RNF196	12q24.33	checkpoint with forkhead and ring finger domains	This gene encodes an E3 ubiquitin-protein ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into mitosis and, therefore, may play a key role in cell cycle progression and tumorigenesis. The encoded protein has an N-terminal forkhead-associated domain, a central RING-finger domain, and a cysteine-rich C-terminal region. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]
CHGA	chr14	92923080	92935293	+	ENSG00000100604.12	protein_coding	CGA	14q32.12	chromogranin A	The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. It is found in secretory vesicles of neurons and endocrine cells. This gene product is a precursor to three biologically active peptides; vasostatin, pancreastatin, and parastatin. These peptides act as autocrine or paracrine negative modulators of the neuroendocrine system. Two other peptides, catestatin and chromofungin, have antimicrobial activity and antifungal activity, respectively. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
CHGB	chr20	5911430	5925361	+	ENSG00000089199.9	protein_coding	SCG1	20p12.3	chromogranin B	This gene encodes a tyrosine-sulfated secretory protein abundant in peptidergic endocrine cells and neurons. This protein may serve as a precursor for regulatory peptides. [provided by RefSeq, Jan 2009]
CHI3L1	chr1	203178931	203186749	-	ENSG00000133048.12	protein_coding	ASRT7|CGP-39|GP-39|GP39|HC-gp39|HCGP-3P|YK-40|YKL-40|YKL40|YYL-40|hCGP-39	1q32.1	chitinase 3 like 1	Chitinases catalyze the hydrolysis of chitin, which is an abundant glycopolymer found in insect exoskeletons and fungal cell walls. The glycoside hydrolase 18 family of chitinases includes eight human family members. This gene encodes a glycoprotein member of the glycosyl hydrolase 18 family. The protein lacks chitinase activity and is secreted by activated macrophages, chondrocytes, neutrophils and synovial cells. The protein is thought to play a role in the process of inflammation and tissue remodeling. [provided by RefSeq, Sep 2009]
CHI3L2	chr1	111200771	111243440	+	ENSG00000064886.13	protein_coding	CHIL2|YKL-39|YKL39	1p13.2	chitinase 3 like 2	The protein encoded by this gene is similar to bacterial chitinases but lacks chitinase activity. The encoded protein is secreted and is involved in cartilage biogenesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
CHIC2	chr4	54009789	54064690	-	ENSG00000109220.10	protein_coding	BTL	4q12	cysteine rich hydrophobic domain 2	This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia. [provided by RefSeq, Jul 2008]
CHID1	chr11	867860	915058	-	ENSG00000177830.17	protein_coding	GL008|SI-CLP|SICLP	11p15.5	chitinase domain containing 1	Ubiquitous expression in testis (RPKM 12.9), spleen (RPKM 11.8) and 25 other tissues
CHIT1	chr1	203212827	203273641	-	ENSG00000133063.15	protein_coding	CHI3|CHIT|CHITD	1q32.1	chitinase 1	Chitotriosidase is secreted by activated human macrophages and is markedly elevated in plasma of Gaucher disease patients. The expression of chitotriosidase occurs only at a late stage of differentiation of monocytes to activated macrophages in culture. Human macrophages can synthesize a functional chitotriosidase, a highly conserved enzyme with a strongly regulated expression. This enzyme may play a role in the degradation of chitin-containing pathogens. Several alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2012]
CHKA	chr11	68052859	68121444	-	ENSG00000110721.11	protein_coding	CHK|CK|CKI|EK	11q13.2	choline kinase alpha	The major pathway for the biosynthesis of phosphatidylcholine occurs via the CDP-choline pathway. The protein encoded by this gene is the initial enzyme in the sequence and may play a regulatory role. The encoded protein also catalyzes the phosphorylation of ethanolamine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
CHKB	chr22	50578949	50601455	-	ENSG00000100288.19	protein_coding	CHETK|CHKL|CK|CKB|CKEKB|EK|EKB|MDCMC	22q13.33	choline kinase beta	Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009]
CHKB-DT	chr22	 50583026	50595281	+	ENSG00000205559	ncRNA	CHKB-AS1	22q13.33	CHKB divergent transcript	Broad expression in testis (RPKM 1.6), prostate (RPKM 1.0) and 24 other tissues
CHML	chr1	241628853	241640254	-	ENSG00000203668.2	protein_coding	REP2	1q43	CHM like Rab escort protein	The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II. [provided by RefSeq, Jul 2008]
CHMP1A	chr16	89644431	89657845	-	ENSG00000131165.14	protein_coding	CHMP1|PCH8|PCOLN3|PRSM1|VPS46-1|VPS46A	16q24.3	charged multivesicular body protein 1A	This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded protein was a metallopeptidase. The nomenclature has been updated recently to reflect the correct biological function of this encoded protein. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
CHMP1B	chr18	11851396	11854449	+	ENSG00000255112.2	protein_coding	C10orf2|C18-ORF2|C18orf2|CHMP1.5|Vps46-2|Vps46B|hVps46-2	18p11.21	charged multivesicular body protein 1B	CHMP1B belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]
CHMP2A	chr19	58551566	58555124	-	ENSG00000130724.8	protein_coding	BC-2|BC2|CHMP2|VPS2|VPS2A	19q13.43	charged multivesicular body protein 2A	CHMP2A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]
CHMP2B	chr3	87227271	87255548	+	ENSG00000083937.8	protein_coding	ALS17|CHMP2.5|DMT1|FTDALS7|VPS2-2|VPS2B	3p11.2	charged multivesicular body protein 2B	This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. [provided by RefSeq, Jul 2008]
CHMP3	chr2	86503431	86563479	-	ENSG00000115561.15	protein_coding	CGI-149|NEDF|VPS24	2p11.2	charged multivesicular body protein 3	This gene encodes a protein that sorts transmembrane proteins into lysosomes/vacuoles via the multivesicular body (MVB) pathway. This protein, along with other soluble coiled-coil containing proteins, forms part of the ESCRT-III protein complex that binds to the endosomal membrane and recruits additional cofactors for protein sorting into the MVB. This protein may also co-immunoprecipitate with a member of the IFG-binding protein superfamily. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ring finger protein 103 (RNF103) gene. [provided by RefSeq, Nov 2010]
CHMP4A	chr14	24209583	24213869	-	ENSG00000254505.9	protein_coding	C14orf123|CHMP4|CHMP4B|HSPC134|SHAX2|SNF7|SNF7-1|VPS32-1|VPS32A	14q12	charged multivesicular body protein 4A	CHMP4A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]
CHMP4B	chr20	33811304	33854366	+	ENSG00000101421.3	protein_coding	C20orf178|CHMP4A|CTPP3|CTRCT31|SNF7|SNF7-2|Shax1|VPS32B|Vps32-2|dJ553F4.4	20q11.22	charged multivesicular body protein 4B	This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009]
CHMP4BP1	chr14	55298644	55299231	+	ENSG00000258469.1	processed_pseudogene	-	14q22.3	charged multivesicular body protein 4B pseudogene 1	-
CHMP4C	chr8	81732434	81759515	+	ENSG00000164695.4	protein_coding	SNF7-3|Shax3|VPS32C	8q21.13	charged multivesicular body protein 4C	CHMP4C belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]
CHMP6	chr17	80991598	81009517	+	ENSG00000176108.9	protein_coding	VPS20	17q25.3	charged multivesicular body protein 6	This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades surface receptors, and in biosynthesis of endosomes. [provided by RefSeq, Mar 2012]
CHMP7	chr8	23243637	23262000	+	ENSG00000147457.13	protein_coding	-	8p21.3	charged multivesicular body protein 7	-
CHN1	chr2	174799363	175005369	-	ENSG00000128656.13	protein_coding	ARHGAP2|CHN|DURS2|NC|RHOGAP2	2q31.1	chimerin 1	This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duanes retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]
CHN2	chr7	29122274	29514328	+	ENSG00000106069.21	protein_coding	ARHGAP3|BCH|CHN2-3|RHOGAP3	7p14.3	chimerin 2	This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein translocates from the cytosol to the Golgi apparatus membrane upon binding by diacylglycerol (DAG). Activity of this protein is important in cell proliferation and migration, and expression changes in this gene have been detected in cancers. A mutation in this gene has also been associated with schizophrenia in men. Alternative transcript splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, May 2014]
CHORDC1	chr11	90201160	90223364	-	ENSG00000110172.11	protein_coding	CHP1	11q14.3	cysteine and histidine rich domain containing 1	Enables Hsp90 protein binding activity. Predicted to be involved in centrosome duplication; chaperone-mediated protein folding; and regulation of cellular response to heat. [provided by Alliance of Genome Resources, Apr 2022]
CHP1	chr15	41230839	41281890	+	ENSG00000187446.11	protein_coding	CHP|SLC9A1BP|SPAX9|Sid470p|p22|p24	15q15.1	calcineurin like EF-hand protein 1	This gene encodes a phosphoprotein that binds to the Na+/H+ exchanger NHE1. This protein serves as an essential cofactor which supports the physiological activity of NHE family members and may play a role in the mitogenic regulation of NHE1. The protein shares similarity with calcineurin B and calmodulin and it is also known to be an endogenous inhibitor of calcineurin activity. [provided by RefSeq, Jul 2008]
CHP2	chr16	23754627	23758951	+	ENSG00000166869.2	protein_coding	-	16p12.2	calcineurin like EF-hand protein 2	Biased expression in duodenum (RPKM 110.6), small intestine (RPKM 92.6) and 2 other tissues
CHPF	chr2	219538947	219543787	-	ENSG00000123989.13	protein_coding	CHSY2|CSS2	2q35	chondroitin polymerizing factor	Broad expression in testis (RPKM 33.7), placenta (RPKM 25.6) and 24 other tissues
CHPF2	chr7	151232489	151238827	+	ENSG00000033100.16	protein_coding	CSGLCA-T|CSGlcAT|ChSy-3|chPF-2	7q36.1	chondroitin polymerizing factor 2	Ubiquitous expression in spleen (RPKM 11.8), placenta (RPKM 11.6) and 25 other tissues
CHPT1	chr12	101696947	101744140	+	ENSG00000111666.10	protein_coding	CPT|CPT1	12q23.2	choline phosphotransferase 1	Ubiquitous expression in testis (RPKM 11.8), duodenum (RPKM 11.3) and 25 other tissues
CHRAC1	chr8	140511298	140517137	+	ENSG00000104472.9	protein_coding	CHARC1|CHARC15|CHRAC-1|CHRAC-15|CHRAC15|YCL1	8q24.3	chromatin accessibility complex subunit 1	CHRAC1 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]
CHRD	chr3	184380073	184390736	+	ENSG00000090539.15	protein_coding	-	3q27.1	chordin	Broad expression in endometrium (RPKM 10.5), liver (RPKM 6.4) and 23 other tissues
CHRDL2	chr11	74696429	74731385	-	ENSG00000054938.15	protein_coding	BNF1|CHL2	11q13.4	chordin like 2	This gene encodes a member of the chordin family of proteins. Chordin family members are secreted proteins that share a cysteine-rich pro-collagen repeat domain and associate with members of the transforming growth factor beta superfamily. In vitro assays demonstrate a direct interaction between the encoded protein and human activin A. This gene is expressed in many tissues including osteoblasts, where it is differentially expressed during differentiation. In addition, its expression is upregulated in human osteoarthritic joint cartilage, suggesting a role in adult cartilage regeneration. [provided by RefSeq, Jan 2015]
CHRFAM7A	chr15	30357766	30393849	-	ENSG00000166664.13	protein_coding	CHRNA7|CHRNA7-DR1|D-10|NACHRA7	15q13.2	CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion	The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed. [provided by RefSeq, Jul 2008]
CHRM1	chr11	62908679	62921807	-	ENSG00000168539.3	protein_coding	HM1|M1|M1R	11q12.3	cholinergic receptor muscarinic 1	The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 1 is involved in mediation of vagally-induced bronchoconstriction and in the acid secretion of the gastrointestinal tract. The gene encoding this receptor is localized to 11q13. [provided by RefSeq, Jul 2008]
CHRM2	chr7	136868669	137020255	+	ENSG00000181072.11	protein_coding	HM2	7q33	cholinergic receptor muscarinic 2	The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine to these receptors and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 2 is involved in mediation of bradycardia and a decrease in cardiac contractility. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
CHRM3-AS2	chr1	239703381	239730465	-	ENSG00000233355.6	antisense	-	1q43	CHRM3 antisense RNA 2	-
CHRM4	chr11	46385098	46386608	-	ENSG00000180720.7	protein_coding	HM4|M4R	11p11.2	cholinergic receptor muscarinic 4	The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The clinical implications of this receptor are unknown; however, mouse studies link its function to adenylyl cyclase inhibition. [provided by RefSeq, Jul 2008]
CHRNA10	chr11	3665587	3671384	-	ENSG00000129749.3	protein_coding	-	11p15.4	cholinergic receptor nicotinic alpha 10 subunit	-
CHRNA2	chr8	27459761	27479883	-	ENSG00000120903.12	protein_coding	-	8p21.2	cholinergic receptor nicotinic alpha 2 subunit	Restricted expression toward prostate (RPKM 15.4)
CHRNA3	chr15	78593052	78621295	-	ENSG00000080644.15	protein_coding	BAIPRCK|LNCR2|NACHRA3|PAOD2	15q25.1	cholinergic receptor nicotinic alpha 3 subunit	This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
CHRNA4	chr20	63343223	63378401	-	ENSG00000101204.16	protein_coding	BFNC|EBN|EBN1|NACHR|NACHRA4|NACRA4	20q13.33	cholinergic receptor nicotinic alpha 4 subunit	This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
CHRNA5	chr15	78565520	78595269	+	ENSG00000169684.13	protein_coding	LNCR2	15q25.1	cholinergic receptor nicotinic alpha 5 subunit	The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010]
CHRNA6	chr8	42752620	42796392	-	ENSG00000147434.8	protein_coding	CHNRA6	8p11.21	cholinergic receptor nicotinic alpha 6 subunit	This gene encodes an alpha subunit of neuronal nicotinic acetylcholine receptors. These receptors consist of five subunits and function as ion channels involved in neurotransmission. The encoded protein is a subunit of neuronal nicotinic acetylcholine receptors that mediate dopaminergic neurotransmission and are activated by acetylcholine and exogenous nicotine. Alternatively spliced transcript variants have been observed for this gene. Single nucleotide polymorphisms in this gene have been associated with both nicotine and alcohol dependence. [provided by RefSeq, Dec 2010]
CHRNA7	chr15	31923438	32173018	+	ENSG00000175344.17	protein_coding	CHRNA7-2|NACHRA7	15q13.3	cholinergic receptor nicotinic alpha 7 subunit	The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The nAChRs are thought to be hetero-pentamers composed of homologous subunits. The proposed structure for each subunit is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. The protein encoded by this gene forms a homo-oligomeric channel, displays marked permeability to calcium ions and is a major component of brain nicotinic receptors that are blocked by, and highly sensitive to, alpha-bungarotoxin. Once this receptor binds acetylcholine, it undergoes an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. This gene is located in a region identified as a major susceptibility locus for juvenile myoclonic epilepsy and a chromosomal location involved in the genetic transmission of schizophrenia. An evolutionarily recent partial duplication event in this region results in a hybrid containing sequence from this gene and a novel FAM7A gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
CHRNA9	chr4	40335329	40355217	+	ENSG00000174343.5	protein_coding	HSA243342|NACHRA9	4p14	cholinergic receptor nicotinic alpha 9 subunit	This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalent cation channels. This protein is involved in cochlea hair cell development and is also expressed in the outer hair cells (OHCs) of the adult cochlea. [provided by RefSeq, Feb 2012]
CHRNB1	chr17	7445061	7457707	+	ENSG00000170175.10	protein_coding	ACHRB|CHRNB|CMS1D|CMS2A|CMS2C|SCCMS	17p13.1	cholinergic receptor nicotinic beta 1 subunit	The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]
CHRNB2	chr1	154567781	154580026	+	ENSG00000160716.5	protein_coding	EFNL3|nAChRB2	1q21.3	cholinergic receptor nicotinic beta 2 subunit	Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in response to ligands such as acetylcholine and nicotine. This gene encodes one of several beta subunits. Mutations in this gene are associated with autosomal dominant nocturnal frontal lobe epilepsy. [provided by RefSeq, Jul 2008]
CHRNB3	chr8	42697376	42737407	+	ENSG00000147432.6	protein_coding	-	8p11.21	cholinergic receptor nicotinic beta 3 subunit	Low expression observed in reference dataset
CHRNB4	chr15	78624119	78727754	-	ENSG00000117971.11	protein_coding	-	15q25.1	cholinergic receptor nicotinic beta 4 subunit	Biased expression in testis (RPKM 1.1), adrenal (RPKM 0.6) and 7 other tissues
CHRND	chr2	232525993	232536667	+	ENSG00000135902.9	protein_coding	ACHRD|CMS2A|CMS3A|CMS3B|CMS3C|FCCMS|SCCMS	2q37.1	cholinergic receptor nicotinic delta subunit	The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. Defects in this gene are a cause of multiple pterygium syndrome lethal type (MUPSL), congenital myasthenic syndrome slow-channel type (SCCMS), and congenital myasthenic syndrome fast-channel type (FCCMS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
CHRNE	chr17	4897774	4903074	-	ENSG00000108556.7	protein_coding	ACHRE|CMS1D|CMS1E|CMS2A|CMS4A|CMS4B|CMS4C|FCCMS|SCCMS	17p13.2	cholinergic receptor nicotinic epsilon subunit	Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009]
CHRNG	chr2	232539727	232546403	+	ENSG00000196811.11	protein_coding	ACHRG	2q37.1	cholinergic receptor nicotinic gamma subunit	The mammalian muscle-type acetylcholine receptor is a transmembrane pentameric glycoprotein with two alpha subunits, one beta, one delta, and one epsilon (in adult skeletal muscle) or gamma (in fetal and denervated muscle) subunit. This gene, which encodes the gamma subunit, is expressed prior to the thirty-third week of gestation in humans. The gamma subunit of the acetylcholine receptor plays a role in neuromuscular organogenesis and ligand binding and disruption of gamma subunit expression prevents the correct localization of the receptor in cell membranes. Mutations in this gene cause Escobar syndrome and a lethal form of multiple pterygium syndrome. Muscle-type acetylcholine receptor is the major antigen in the autoimmune disease myasthenia gravis.[provided by RefSeq, Sep 2009]
CHST1	chr11	45648877	45665622	-	ENSG00000175264.7	protein_coding	C6ST|GST-1|KS6ST|KSGal6ST|KSST	11p11.2	carbohydrate sulfotransferase 1	This locus encodes a member of the keratin sulfotransferase family of proteins. The encoded enzyme catalyzes the sulfation of the proteoglycan keratin. [provided by RefSeq, Aug 2011]
CHST10	chr2	100391860	100417656	-	ENSG00000115526.10	protein_coding	HNK-1ST|HNK1ST	2q11.2	carbohydrate sulfotransferase 10	This protein encoded by this gene transfers sulfate to the C-3 hydroxyl of terminal glucuronic acid of protein- and lipid-linked oligosaccharides. This protein was first identified as a sulfotransferase that acts on the human natural killer-1 (HNK-1) glycan; HNK-1 is a carbohydrate involved in neurodevelopment and synaptic plasticity.[provided by RefSeq, Feb 2011]
CHST11	chr12	104455295	104762014	+	ENSG00000171310.10	protein_coding	C4ST|C4ST-1|C4ST1|HSA269537|OCBMD	12q23.3	carbohydrate sulfotransferase 11	The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. A chromosomal translocation involving this gene and IgH, t(12;14)(q23;q32), has been reported in a patient with B-cell chronic lymphocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
CHST12	chr7	2403560	2448483	+	ENSG00000136213.9	protein_coding	C4S-2|C4ST-2|C4ST2	7p22.3	carbohydrate sulfotransferase 12	The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin and desulfated dermatan sulfate. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. Alternatively spliced transcript variants differing only in their 5 UTRs have been found for this gene. [provided by RefSeq, Aug 2011]
CHST13	chr3	126524283	126543291	+	ENSG00000180767.9	protein_coding	C4ST3	3q21.3	carbohydrate sulfotransferase 13	The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to the C4 hydroxyl of beta-1,4-linked N-acetylgalactosamine (GalNAc) flanked by glucuronic acid residue in chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices. [provided by RefSeq, Aug 2011]
CHST14	chr15	40470998	40474571	+	ENSG00000169105.7	protein_coding	ATCS|D4ST1|EDSMC1|HNK1ST	15q15.1	carbohydrate sulfotransferase 14	This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010]
CHST15	chr10	124007666	124093607	-	ENSG00000182022.17	protein_coding	BRAG|GALNAC4S-6ST	10q26.13	carbohydrate sulfotransferase 15	Chondroitin sulfate (CS) is a glycosaminoglycan which is an important structural component of the extracellular matrix and which links to proteins to form proteoglycans. Chondroitin sulfate E (CS-E) is an isomer of chondroitin sulfate in which the C-4 and C-6 hydroxyl groups are sulfated. This gene encodes a type II transmembrane glycoprotein that acts as a sulfotransferase to transfer sulfate to the C-6 hydroxal group of chondroitin sulfate. This gene has also been identified as being co-expressed with RAG1 in B-cells and as potentially acting as a B-cell surface signaling receptor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]
CHST2	chr3	143119331	143124014	+	ENSG00000175040.5	protein_coding	C6ST|GST-2|GST2|Gn6ST-1|HEL-S-75|glcNAc6ST-1	3q24	carbohydrate sulfotransferase 2	This locus encodes a sulfotransferase protein. The encoded enzyme catalyzes the sulfation of a nonreducing N-acetylglucosamine residue, and may play a role in biosynthesis of 6-sulfosialyl Lewis X antigen. [provided by RefSeq, Aug 2011]
CHST3	chr10	71964365	72013564	+	ENSG00000122863.5	protein_coding	C6ST|C6ST1|HSD	10q22.1	carbohydrate sulfotransferase 3	This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]
CHST4	chr16	71525233	71538746	+	ENSG00000140835.9	protein_coding	GST3|GlcNAc6ST2|HECGLCNAC6ST|LSST	16q22.2	carbohydrate sulfotransferase 4	This gene encodes an N-acetylglucosamine 6-O sulfotransferase. The encoded enzyme transfers sulfate from 3phosphoadenosine 5phospho-sulfate to the 6-hydroxyl group of N-acetylglucosamine on glycoproteins. This protein is localized to the Golgi and is involved in the modification of glycan structures on ligands of the lymphocyte homing receptor L-selectin. Alternate splicing in the 5 UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009]
CHST5	chr16	75528535	75535247	-	ENSG00000135702.14	protein_coding	I-GlcNAc-6-ST|I-GlcNAc6ST|glcNAc6ST-3|gn6st-3|hIGn6ST	16q23.1	carbohydrate sulfotransferase 5	The protein encoded by this gene belongs to the Gal/GalNAc/GlcNAc 6-O-sulfotransferase (GST) family, members of which catalyze the transfer of sulfate to position 6 of galactose (Gal), N-acetylgalactosamine (GalNAc), or N-acetylglucosamine (GlcNAc) residues within proteoglycans, and sulfation of O-linked sugars of mucin-type acceptors. Carbohydrate sulfation plays a critical role in many biologic processes. This gene is predominantly expressed in colon and small intestine. [provided by RefSeq, Aug 2011]
CHST6	chr16	75472052	75495384	-	ENSG00000183196.8	protein_coding	C-GlcNAc6ST|GST4-beta|MCDC1|glcNAc6ST-5|gn6st-5|hCGn6ST	16q23.1	carbohydrate sulfotransferase 6	The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010]
CHST8	chr19	33621955	33773509	+	ENSG00000124302.12	protein_coding	GALNAC4ST1|GalNAc4ST|PSS3	19q13.11	carbohydrate sulfotransferase 8	The protein encoded by this gene belongs to the sulfotransferase 2 family. It is predominantly expressed in the pituitary gland, and is localized to the golgi membrane. This protein catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. It is responsible for sulfation of GalNAc on luteinizing hormone (LH), which is required for production of the sex hormones. Mice lacking this enzyme, exhibit increased levels of circulating LH, and precocious sexual maturation of both male and female mice. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
CHST9	chr18	26906481	27185317	-	ENSG00000154080.13	protein_coding	GALNAC4ST-2|GalNAc4ST2	18q11.2	carbohydrate sulfotransferase 9	The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of non-reducing N-acetylgalactosamine (GalNAc) residues in both N-glycans and O-glycans. Sulfate groups on carbohydrates confer highly specific functions to glycoproteins, glycolipids, and proteoglycans, and are critical for cell-cell interaction, signal transduction, and embryonic development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Aug 2011]
CHSY1	chr15	101175723	101251932	-	ENSG00000131873.5	protein_coding	CHSY|CSS1|ChSy-1|TPBS	15q26.3	chondroitin sulfate synthase 1	This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011]
CHSY3	chr5	129904472	130186634	+	ENSG00000198108.3	protein_coding	CHSY2|CSS3	5q23.3	chondroitin sulfate synthase 3	CSS3 is a glycosyltransferase that has both glucuronyltransferase and N-acetylgalactosaminyltransferase activities (Yada et al., 2003 [PubMed 12907687]).[supplied by OMIM, Mar 2008]
CHTF18	chr16	788046	800737	+	ENSG00000127586.16	protein_coding	C16orf41|C321D2.2|C321D2.3|C321D2.4|CHL12|Ctf18|RUVBL	16p13.3	chromosome transmission fidelity factor 18	This gene encodes a protein which is a component of a replication factor C (RFC) complex, which loads proliferating cell nuclear antigen (PCNA) on to DNA during the S phase of cell cycle. The encoded protein may interact with other proteins, including RFC complex 3, to form a clamp loader complex that plays a role in sister chromatid cohesion during metaphase-anaphase transition. [provided by RefSeq, Jan 2016]
CHTF8	chr16	69118010	69132584	-	ENSG00000168802.12	protein_coding	CTF8|DERPC	16q22.1	chromosome transmission fidelity factor 8	This gene encodes a short protein that forms part of the Ctf18 replication factor C (RFC) complex that occurs in both yeast and mammals. The heteroheptameric RFC complex plays a role in sister chromatid cohesion and may load the replication clamp PCNA (proliferating cell nuclear antigen) onto DNA during DNA replication and repair. This gene is ubiquitously expressed and has been shown to have reduced expression in renal and prostate tumors. Alternatively spliced transcript variants have been described. This gene has a pseudogene on chromosome X. [provided by RefSeq, Oct 2018]
CHTOP	chr1	153633982	153646306	+	ENSG00000160679.12	protein_coding	C10orf77|C1orf77|FL-SRAG|FOP|SRAG|SRAG-3|SRAG-5|pp7704	1q21.3	chromatin target of PRMT1	This gene encodes a small nuclear protein that is characterized by an arginine and glycine rich region. This protein may have an important role in the regulation of fetal globin gene expression and in the activation of estrogen-responsive genes. A recent study reported that this protein binds 5-hydroxymethylcytosine (5hmC) and associates with an arginine methyltransferase complex (methylosome), which promotes methylation of arginine 3 of histone H4 (H4R3) and activation of genes involved in glioblastomagenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2015]
CHUK	chr10	100188298	100229619	-	ENSG00000213341.10	protein_coding	BPS2|IKBKA|IKK-alpha|IKK1|IKKA|NFKBIKA|TCF16	10q24.31	component of inhibitor of nuclear factor kappa B kinase complex	This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq, Jul 2008]
CHURC1	chr14	64914361	64944591	+	ENSG00000258289.8	protein_coding	C14orf52|My015|chch	14q23.3	churchill domain containing 1	Ubiquitous expression in fat (RPKM 18.1), brain (RPKM 17.2) and 25 other tissues
CIAO1	chr2	96266132	96273349	+	ENSG00000144021.2	protein_coding	CIA1|WDR39	2q11.2	cytosolic iron-sulfur assembly component 1	Ubiquitous expression in adrenal (RPKM 18.1), kidney (RPKM 17.3) and 25 other tissues
CIAO2A	chr15	 64072565	64093838	-	ENSG00000166797	protein-coding	CIA2A|FAM96A	15q22.31	cytosolic iron-sulfur assembly component 2A	Ubiquitous expression in liver (RPKM 13.5), duodenum (RPKM 11.9) and 25 other tissues
CIAO2B	chr16	 66932065	66934402	-	ENSG00000166595	protein-coding	CGI-128|CIA2B|FAM96B|MIP18	16q22.1	cytosolic iron-sulfur assembly component 2B	Involved in chromosome segregation; iron-sulfur cluster assembly; and protein maturation by iron-sulfur cluster transfer. Located in cytosol; nucleoplasm; and spindle. Part of CIA complex and MMXD complex. [provided by Alliance of Genome Resources, Apr 2022]
CIAO3	chr16	 729765	740997	-	ENSG00000103245	protein-coding	HPRN|IOP1|LET1L|NAR1|NARFL|PRN	16p13.3	cytosolic iron-sulfur assembly component 3	Ubiquitous expression in kidney (RPKM 7.4), prostate (RPKM 7.1) and 25 other tissues
CIAPIN1	chr16	57428169	57447528	-	ENSG00000005194.14	protein_coding	Anamorsin|CIAE2|DRE2|PRO0915	16q21	cytokine induced apoptosis inhibitor 1	CIAPIN1 is a cytokine-induced inhibitor of apoptosis with no relation to apoptosis regulatory molecules of the BCL2 (MIM 151430) or CASP (see MIM 147678) families. Expression of CIAPIN1 is dependent on growth factor stimulation (Shibayama et al., 2004 [PubMed 14970183]).[supplied by OMIM, Mar 2008]
CIART	chr1	150282543	150287093	+	ENSG00000159208.15	protein_coding	C1orf51|CHRONO|GM129	1q21.2	circadian associated repressor of transcription	Broad expression in heart (RPKM 6.9), thyroid (RPKM 5.6) and 24 other tissues
CIB1	chr15	90229975	90234047	-	ENSG00000185043.10	protein_coding	CIB|CIBP|KIP1|PRKDCIP|SIP2-28	15q26.1	calcium and integrin binding 1	This gene encodes a member of the EF-hand domain-containing calcium-binding superfamily. The encoded protein interacts with many other proteins, including the platelet integrin alpha-IIb-beta-3, DNA-dependent protein kinase, presenilin-2, focal adhesion kinase, p21 activated kinase, and protein kinase D. The encoded protein may be involved in cell survival and proliferation, and is associated with several disease states including cancer and Alzheimers disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
CIB2	chr15	78104606	78131544	-	ENSG00000136425.12	protein_coding	DFNB48|KIP2|USH1J	15q25.1	calcium and integrin binding family member 2	The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
CIB3	chr19	16161368	16173525	-	ENSG00000141977.9	protein_coding	KIP3	19p13.11	calcium and integrin binding family member 3	This gene product shares a high degree of sequence similarity with DNA-dependent protein kinase catalytic subunit-interacting protein 2 in human and mouse, and like them may bind the catalytic subunit of DNA-dependent protein kinases. The exact function of this gene is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
CIB4	chr2	26581202	26641368	-	ENSG00000157884.10	protein_coding	KIP4	2p23.3	calcium and integrin binding family member 4	Low expression observed in reference dataset
CIBAR1	chr8	 93700550	93731527	+	ENSG00000188343	protein-coding	BARMR1|FAM92A|FAM92A1|PAPA9	8q22.1	CBY1 interacting BAR domain containing 1	-
CIBAR1P1	chr15	 41163124	41164697	+	-	pseudogene	FAM92A1P1|FAM92A2	15q15.1	CIBAR1 pseudogene 1	-
CIBAR2	chr16	 85098358	85112472	-	ENSG00000153789	protein-coding	FAM92B	16q24.1	CBY1 interacting BAR domain containing 2	-
CIC	chr19	42268537	42295797	+	ENSG00000079432.7	protein_coding	MRD45	19q13.2	capicua transcriptional repressor	The protein encoded by this gene is an ortholog of the Drosophila melanogaster capicua gene, and is a member of the high mobility group (HMG)-box superfamily of transcriptional repressors. This protein contains a conserved HMG domain that is involved in DNA binding and nuclear localization, and a conserved C-terminus. Studies suggest that the N-terminal region of this protein interacts with Atxn1 (GeneID:6310), to form a transcription repressor complex, and in vitro studies suggest that polyglutamine-expansion of ATXN1 may alter the repressor activity of this complex. Mutations in this gene have been associated with olidogdendrogliomas (PMID:21817013). In addition, translocation events resulting in gene fusions of this gene with both DUX4 (GeneID:100288687) and FOXO4 (GeneID:4303) have been associated with round cell sarcomas. There are multiple pseudogenes of this gene found on chromosomes 1, 4, 6, 7, 16, 20, and the Y chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
CICP11	chr7	55736779	55739605	+	ENSG00000237799.2	processed_pseudogene	-	7p11.2	capicua transcriptional repressor pseudogene 11	-
CICP16	chr4	118635970	118638782	-	ENSG00000248213.3	processed_pseudogene	-	4q26	capicua transcriptional repressor pseudogene 16	-
CICP20	chr7	45816216	45819016	-	ENSG00000235955.1	processed_pseudogene	-	7p12.3	capicua transcriptional repressor pseudogene 20	-
CICP23	chr11	123312	126123	+	ENSG00000270921.1	processed_pseudogene	-	11p15.5	capicua transcriptional repressor pseudogene 23	-
CIDEA	chr18	12254319	12277595	+	ENSG00000176194.17	protein_coding	CIDE-A	18p11.21|18	cell death inducing DFFA like effector a	This gene encodes the homolog of the mouse protein Cidea that has been shown to activate apoptosis. This activation of apoptosis is inhibited by the DNA fragmentation factor DFF45 but not by caspase inhibitors. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis in brown adipose tissue and higher core body temperatures when subjected to cold. These mice are also resistant to diet-induced obesity and diabetes. This suggests that in mice this gene product plays a role in thermogenesis and lipolysis. Alternatively spliced transcripts have been identified. [provided by RefSeq, Aug 2010]
CIDEB	chr14	24305096	24311430	-	ENSG00000136305.11	protein_coding	-	14q12	cell death inducing DFFA like effector b	-
CIDEC	chr3	9866711	9880254	-	ENSG00000187288.10	protein_coding	CIDE-3|CIDE3|FPLD5|FSP27	3p25.3	cell death inducing DFFA like effector c	This gene encodes a member of the cell death-inducing DNA fragmentation factor-like effector family. Members of this family play important roles in apoptosis. The encoded protein promotes lipid droplet formation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively correlated with insulin sensitivity. Mutations in this gene may contribute to insulin resistant diabetes. A pseudogene of this gene is located on the short arm of chromosome 3. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
CIDECP1	chr3	 10017553	10026136	-	ENSG00000186162	pseudogene	CICE|CIDECP	3p25.3	cell death inducing DFFA like effector c pseudogene 1	Ubiquitous expression in bone marrow (RPKM 9.3), brain (RPKM 7.9) and 25 other tissues
CIITA	chr16	10866222	10932281	+	ENSG00000179583.18	protein_coding	C2TA|CIITAIV|MHC2TA|NLRA	16p13.13	class II major histocompatibility complex transactivator	This gene encodes a protein with an acidic transcriptional activation domain, 4 LRRs (leucine-rich repeats) and a GTP binding domain. The protein is located in the nucleus and acts as a positive regulator of class II major histocompatibility complex gene transcription, and is referred to as the master control factor for the expression of these genes. The protein also binds GTP and uses GTP binding to facilitate its own transport into the nucleus. Once in the nucleus it does not bind DNA but rather uses an intrinsic acetyltransferase (AT) activity to act in a coactivator-like fashion. Mutations in this gene have been associated with bare lymphocyte syndrome type II (also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency), increased susceptibility to rheumatoid arthritis, multiple sclerosis, and possibly myocardial infarction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
CILK1	chr6	 53001303	53061824	-	ENSG00000112144	protein-coding	ECO|EJM10|ICK|LCK2|MRK|hICK	6p12.1	ciliogenesis associated kinase 1	-
CILP	chr15	65194758	65211488	-	ENSG00000138615.5	protein_coding	CILP-1|HsT18872	15q22.31	cartilage intermediate layer protein	Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010]
CILP2	chr19	19538248	19546659	+	ENSG00000160161.9	protein_coding	CLIP-2	19p13.11	cartilage intermediate layer protein 2	Biased expression in testis (RPKM 2.1), gall bladder (RPKM 1.1) and 8 other tissues
CINP	chr14	102341102	102362916	-	ENSG00000100865.14	protein_coding	-	14q32.31	cyclin dependent kinase 2 interacting protein	Ubiquitous expression in testis (RPKM 6.8), brain (RPKM 6.4) and 25 other tissues
CIP2A	chr3	 108549864	108589438	-	ENSG00000163507	protein-coding	KIAA1524|NOCIVA|p90	3q13.13	cellular inhibitor of PP2A	Enables protein homodimerization activity. Predicted to act upstream of or within positive regulation of neural precursor cell proliferation and spermatogenesis. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
CIPC	chr14	77098097	77117287	+	ENSG00000198894.7	protein_coding	KIAA1737	14q24.3	CLOCK interacting pacemaker	Ubiquitous expression in brain (RPKM 21.3), heart (RPKM 15.0) and 25 other tissues
CIRBP	chr19	1259384	1274880	+	ENSG00000099622.13	protein_coding	CIRP	19p13.3	cold inducible RNA binding protein	Ubiquitous expression in ovary (RPKM 151.3), endometrium (RPKM 107.4) and 25 other tissues
CISD1	chr10	58269058	58289586	+	ENSG00000122873.11	protein_coding	C10orf70|MDS029|ZCD1|mitoNEET	10q21.1	CDGSH iron sulfur domain 1	This gene encodes a protein with a CDGSH iron-sulfur domain and has been shown to bind a redox-active [2Fe-2S] cluster. The encoded protein has been localized to the outer membrane of mitochondria and is thought to play a role in regulation of oxidation. Genes encoding similar proteins are located on chromosomes 4 and 17, and a pseudogene of this gene is located on chromosome 2. [provided by RefSeq, Feb 2012]
CISD2	chr4	102868978	102889242	+	ENSG00000145354.9	protein_coding	ERIS|Miner1|NAF-1|WFS2|ZCD2	4q24	CDGSH iron sulfur domain 2	The protein encoded by this gene is a zinc finger protein that localizes to the endoplasmic reticulum. The encoded protein binds an iron/sulfur cluster and may be involved in calcium homeostasis. Defects in this gene are a cause of Wolfram syndrome 2. [provided by RefSeq, Mar 2011]
CISD3	chr17	38730235	38735044	+	ENSG00000277972.1	protein_coding	MiNT|Miner2	17q12	CDGSH iron sulfur domain 3	CISD3 is a member of the CDGSH domain-containing family, which may play a role in regulating electron transport and oxidative phosphorylation (Wiley et al., 2007 [PubMed 17376863]).[supplied by OMIM, Apr 2008]
CISH	chr3	50606490	50611831	-	ENSG00000114737.15	protein_coding	BACTS2|CIS|CIS-1|G18|SOCS	3p21.2	cytokine inducible SH2 containing protein	The protein encoded by this gene contains a SH2 domain and a SOCS box domain. The protein thus belongs to the cytokine-induced STAT inhibitor (CIS), also known as suppressor of cytokine signaling (SOCS) or STAT-induced STAT inhibitor (SSI), protein family. CIS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by IL2, IL3, GM-CSF and EPO in hematopoietic cells. Proteasome-mediated degradation of this protein has been shown to be involved in the inactivation of the erythropoietin receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
CIT	chr12	119685790	119877291	-	ENSG00000122966.15	protein_coding	CITK|CRIK|MCPH17|STK21	12q24.23	citron rho-interacting serine/threonine kinase	This gene encodes a serine/threonine-protein kinase that functions in cell division. Together with the kinesin KIF14, this protein localizes to the central spindle and midbody, and functions to promote efficient cytokinesis. This protein is involved in central nervous system development. Polymorphisms in this gene are associated with bipolar disorder and risk for schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
CITED2	chr6	139371807	139374620	-	ENSG00000164442.9	protein_coding	ASD8|MRG-1|MRG1|P35SRJ|VSD2	6q24.1	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardiac septal defects. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
CITED4	chr1	40861051	40862366	-	ENSG00000179862.6	protein_coding	-	1p34.2|1p35-p34	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4	-
CITF22-1A6.3	chr22	49902228	49904576	+	ENSG00000273192.1	lincRNA	-	-	-	-
CITF22-92A6.1	chr22	46013606	46015498	+	ENSG00000273145.1	lincRNA	-	-	-	-
CITF22-92A6.2	chr22	46006616	46010777	+	ENSG00000280424.1	TEC	-	-	-	-
CIZ1	chr9	128166064	128204383	-	ENSG00000148337.20	protein_coding	LSFR1|NP94|ZNF356	9q34.11	CDKN1A interacting zinc finger protein 1	The protein encoded by this gene is a zinc finger DNA binding protein that interacts with CIP1, part of a complex with cyclin E. The encoded protein may regulate the cellular localization of CIP1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
CKAP2	chr13	52455429	52476628	+	ENSG00000136108.14	protein_coding	LB1|TMAP|se20-10	13q14.3	cytoskeleton associated protein 2	This gene encodes a cytoskeleton-associated protein that stabalizes microtubules and plays a role in the regulation of cell division. The encoded protein is itself regulated through phosphorylation at multiple serine and threonine residues. There is a pseudogene of this gene on chromosome 14. Alternative splicing results in multiple transcript variations. [provided by RefSeq, Nov 2013]
CKAP2L	chr2	112736607	112764677	-	ENSG00000169607.12	protein_coding	-	2q14.1	cytoskeleton associated protein 2 like	Biased expression in bone marrow (RPKM 6.1), testis (RPKM 4.2) and 12 other tissues
CKAP4	chr12	106237877	106304279	-	ENSG00000136026.13	protein_coding	CLIMP-63|CLIMP63|ERGIC-63|p63	12q23.3	cytoskeleton associated protein 4	Ubiquitous expression in bone marrow (RPKM 41.9), placenta (RPKM 30.9) and 25 other tissues
CKAP5	chr11	46743048	46846308	-	ENSG00000175216.14	protein_coding	CHTOG|MSPS|TOG|TOGp|ch-TOG	11p11.2	cytoskeleton associated protein 5	This gene encodes a cytoskeleton-associated protein which belongs to the TOG/XMAP215 family. The N-terminal half of this protein contains a microtubule-binding domain and the C-terminal half contains a KXGS motif for binding tubulin dimers. This protein has two distinct roles in spindle formation; it protects kinetochore microtubules from depolymerization and plays an essential role in centrosomal microtubule assembly. This protein may be necessary for the proper interaction of microtubules with the cell cortex for directional cell movement. It also plays a role in translation of the myelin basic protein (MBP) mRNA by interacting with heterogeneous nuclear ribonucleoprotein (hnRNP) A2, which associates with MBP. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
CKB	chr14	103519659	103523111	-	ENSG00000166165.12	protein_coding	B-CK|BCK|CKBB|CPK-B|HEL-211|HEL-S-29	14q32.33	creatine kinase B	The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized. [provided by RefSeq, Jul 2008]
CKLF	chr16	66552563	66566251	+	ENSG00000217555.12	protein_coding	C32|CKLF1|CKLF2|CKLF3|CKLF4|HSPC224|UCK-1	16q21	chemokine like factor	The product of this gene is a cytokine. Cytokines are small proteins that have an essential role in the immune and inflammatory responses. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. The protein encoded by this gene is a potent chemoattractant for neutrophils, monocytes and lymphocytes. It also can stimulate the proliferation of skeletal muscle cells. This protein may play important roles in inflammation and in the regeneration of skeletal muscle. Alternatively spliced transcript variants encoding different isoforms have been identified. Naturally occurring read-through transcription occurs between this locus and the neighboring locus CMTM1 (CKLF-like MARVEL transmembrane domain containing 1).[provided by RefSeq, Feb 2011]
CKM	chr19	45306414	45322977	-	ENSG00000104879.4	protein_coding	CKMM|CPK-M|M-CK	19q13.32	creatine kinase, M-type	The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. [provided by RefSeq, Jul 2008]
CKMT1A	chr15	43692886	43699222	+	ENSG00000223572.9	protein_coding	CKMT1|U-MtCK|mia-CK	15q15.3	creatine kinase, mitochondrial 1A	Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008]
CKMT1B	chr15	43593054	43604901	+	ENSG00000237289.9	protein_coding	CKMT|CKMT1|UMTCK	15q15.3	creatine kinase, mitochondrial 1B	Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008]
CKS1B	chr1	154974653	154979249	+	ENSG00000173207.12	protein_coding	CKS1|PNAS-16|PNAS-18|ckshs1	1q21.3	CDC28 protein kinase regulatory subunit 1B	CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS1B mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects a specialized role for the encoded protein. At least two transcript variants have been identified for this gene, and it appears that only one of them encodes a protein. [provided by RefSeq, Sep 2008]
CKS2	chr9	89311198	89316703	+	ENSG00000123975.4	protein_coding	CKSHS2	9q22.2	CDC28 protein kinase regulatory subunit 2	CKS2 protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The CKS2 mRNA is found to be expressed in different patterns through the cell cycle in HeLa cells, which reflects specialized role for the encoded protein. [provided by RefSeq, Jul 2008]
CLASP2	chr3	33496245	33718356	-	ENSG00000163539.16	protein_coding	-	3p22.3	cytoplasmic linker associated protein 2	-
CLASRP	chr19	45039040	45070956	+	ENSG00000104859.14	protein_coding	CLASP|SFRS16|SWAP2	19q13.32	CLK4 associating serine/arginine rich protein	Ubiquitous expression in bone marrow (RPKM 17.9), spleen (RPKM 17.1) and 25 other tissues
CLBA1	chr14	 104985788	105001274	+	ENSG00000140104	protein-coding	C14orf79	14q32.33	clathrin binding box of aftiphilin containing 1	Broad expression in testis (RPKM 5.0), thyroid (RPKM 3.6) and 25 other tissues
CLC	chr19	39731250	39738028	-	ENSG00000105205.6	protein_coding	GAL10|Gal-10|LGALS10|LGALS10A|LPPL_HUMAN	19q13.2	Charcot-Leyden crystal galectin	Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene is a lysophospholipase expressed in eosinophils and basophils. It hydrolyzes lysophosphatidylcholine to glycerophosphocholine and a free fatty acid. This protein may possess carbohydrate or IgE-binding activities. It is both structurally and functionally related to the galectin family of beta-galactoside binding proteins. It may be associated with inflammation and some myeloid leukemias. [provided by RefSeq, Jul 2008]
CLCA1	chr1	86468368	86500289	+	ENSG00000016490.15	protein_coding	CACC|CACC1|CLCRG1|CaCC-1|GOB5|hCLCA1|hCaCC-1	1p22.3	chloride channel accessory 1	This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. [provided by RefSeq, Jul 2008]
CLCA4	chr1	86547078	86580754	+	ENSG00000016602.9	protein_coding	CaCC|CaCC2	1p22.3	chloride channel accessory 4	The protein encoded by this gene belongs to the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same site on chromosome 1p31-p22 and share high degrees of homology in size, sequence and predicted structure, but differ significantly in their tissue distributions. Alternative splicing results in multiple transcript variants, only one of which is thought to be protein coding. [provided by RefSeq, Dec 2008]
CLCC1	chr1	108929508	108963457	-	ENSG00000121940.15	protein_coding	MCLC|RP32	1p13.3	chloride channel CLIC like 1	Ubiquitous expression in brain (RPKM 9.3), thyroid (RPKM 9.3) and 25 other tissues
CLCF1	chr11	67364168	67374177	-	ENSG00000175505.10	protein_coding	BSF-3|BSF3|CISS2|CLC|NNT-1|NNT1|NR6	11q13.2	cardiotrophin like cytokine factor 1	This gene is a member of the glycoprotein (gp)130 cytokine family and encodes cardiotrophin-like cytokine factor 1 (CLCF1). CLCF1 forms a heterodimer complex with cytokine receptor-like factor 1 (CRLF1). This dimer competes with ciliary neurotrophic factor (CNTF) for binding to the ciliary neurotrophic factor receptor (CNTFR) complex, and activates the Jak-STAT signaling cascade. CLCF1 can be actively secreted from cells by forming a complex with soluble type I CRLF1 or soluble CNTFR. CLCF1 is a potent neurotrophic factor, B-cell stimulatory agent and neuroendocrine modulator of pituitary corticotroph function. Defects in CLCF1 cause cold-induced sweating syndrome 2 (CISS2). This syndrome is characterized by a profuse sweating after exposure to cold as well as congenital physical abnormalities of the head and spine. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
CLCN2	chr3	184346185	184361651	-	ENSG00000114859.15	protein_coding	CIC-2|CLC2|ECA2|ECA3|EGI11|EGI3|EGMA|EJM6|EJM8|HALD2|LKPAT|clC-2	3q27.1	chloride voltage-gated channel 2	This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
CLCN3	chr4	169612633	169723673	+	ENSG00000109572.13	protein_coding	CLC3|ClC-3|NEDHYBA|NEDSBA	4q33	chloride voltage-gated channel 3	This gene encodes a member of the voltage-gated chloride channel (ClC) family. The encoded protein is present in all cell types and localized in plasma membranes and in intracellular vesicles. It is a multi-pass membrane protein which contains a ClC domain and two additional C-terminal CBS (cystathionine beta-synthase) domains. The ClC domain catalyzes the selective flow of Cl- ions across cell membranes, and the CBS domain may have a regulatory function. This protein plays a role in both acidification and transmitter loading of GABAergic synaptic vesicles, and in smooth muscle cell activation and neointima formation. This protein is required for lysophosphatidic acid (LPA)-activated Cl- current activity and fibroblast-to-myofibroblast differentiation. The protein activity is regulated by Ca(2+)/calmodulin-dependent protein kinase II (CaMKII) in glioma cells. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
CLCN6	chr1	11806096	11843144	+	ENSG00000011021.21	protein_coding	CLC-6|CONRIBA	1p36.22	chloride voltage-gated channel 6	This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown. [provided by RefSeq, Mar 2012]
CLCN7	chr16	1444934	1475580	-	ENSG00000103249.17	protein_coding	CLC-7|CLC7|HOD|OPTA2|OPTB4|PPP1R63	16p13.3	chloride voltage-gated channel 7	The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008]
CLCNKA	chr1	16018875	16034050	+	ENSG00000186510.11	protein_coding	CLCK1|ClC-K1|hClC-Ka	1p36.13	chloride voltage-gated channel Ka	This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a functional channel. It is thought to function in salt reabsorption in the kidney and potassium recycling in the inner ear. The gene is highly similar to CLCNKB, which is located 10 kb downstream from this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
CLCNKB	chr1	16043736	16057308	+	ENSG00000184908.17	protein_coding	CLCKB|ClC-K2|ClC-Kb	1p36.13	chloride voltage-gated channel Kb	The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport. This gene is expressed predominantly in the kidney and may be important for renal salt reabsorption. Mutations in this gene are associated with autosomal recessive Bartter syndrome type 3 (BS3). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
CLCP2	chr13	114306646	114307066	+	ENSG00000226158.1	processed_pseudogene	LGALS10P1	13q34	Charcot-Leyden crystal protein pseudogene 2	-
CLDN10	chr13	95433604	95579759	+	ENSG00000134873.9	protein_coding	CPETRL3|HELIX|OSP-L|OSPL	13q32.1	claudin 10	This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The expression level of this gene is associated with recurrence of primary hepatocellular carcinoma. Six alternatively spliced transcript variants encoding different isoforms have been reported, but the transcript sequences of some variants are not determined.[provided by RefSeq, Jun 2010]
CLDN11	chr3	170418865	170860380	+	ENSG00000013297.10	protein_coding	HLD22|OSP|OTM	3q26.2	claudin 11	This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is a major component of central nervous system (CNS) myelin and plays an important role in regulating proliferation and migration of oligodendrocytes. Mouse studies showed that the gene deficiency results in deafness and loss of the Sertoli cell epithelial phenotype in the testis. This protein is a tight junction protein at the human blood-testis barrier (BTB), and the BTB disruption is related to a dysfunction of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Aug 2010]
CLDN14	chr21	36460621	36576569	-	ENSG00000159261.10	protein_coding	DFNB29	21q22.13	claudin 14	Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. The encoded protein also binds specifically to the WW domain of Yes-associated protein. Defects in this gene are the cause of an autosomal recessive form of nonsyndromic sensorineural deafness. It is also reported that four synonymous variants in this gene are associated with kidney stones and reduced bone mineral density. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2010]
CLDN15	chr7	101232092	101238820	-	ENSG00000106404.13	protein_coding	-	7q22.1	claudin 15	Biased expression in duodenum (RPKM 65.8), small intestine (RPKM 50.2) and 8 other tissues
CLDN20	chr6	155264013	155276548	+	ENSG00000171217.5	protein_coding	-	6q25.3	claudin 20	Low expression observed in reference dataset
CLDN23	chr8	8701938	8704106	+	ENSG00000253958.1	protein_coding	CLDNL|hCG1646163	8p23.1	claudin 23	This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This gene is expressed in germinal center B-cells, placenta and stomach as well as in colon tumor. This gene is down-regulated in intestinal type gastric cancer. [provided by RefSeq, Aug 2010]
CLDN25	chr11	113779747	113780500	+	ENSG00000228607.2	protein_coding	-	11q23.2	claudin 25	-
CLDN3	chr7	73768997	73770270	-	ENSG00000165215.6	protein_coding	C7orf1|CPE-R2|CPETR2|HRVP1|RVP1	7q11.23	claudin 3	Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this intronless gene, a member of the claudin family, is an integral membrane protein and a component of tight junction strands. It is also a low-affinity receptor for Clostridium perfringens enterotoxin, and shares aa sequence similarity with a putative apoptosis-related protein found in rat. [provided by RefSeq, Jul 2008]
CLDN4	chr7	73799542	73832693	+	ENSG00000189143.9	protein_coding	CPE-R|CPER|CPETR|CPETR1|WBSCR8|hCPE-R	7q11.23	claudin 4	The protein encoded by this intronless gene belongs to the claudin family. Claudins are integral membrane proteins that are components of the epithelial cell tight junctions, which regulate movement of solutes and ions through the paracellular space. This protein is a high-affinity receptor for Clostridium perfringens enterotoxin (CPE) and may play a role in internal organ development and function during pre- and postnatal life. This gene is deleted in Williams-Beuren syndrome, a neurodevelopmental disorder affecting multiple systems. [provided by RefSeq, Sep 2013]
CLDN5	chr22	19523024	19527545	-	ENSG00000184113.9	protein_coding	AWAL|BEC1|CPETRL1|TMDVCF|TMVCF	22q11.21	claudin 5	This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets. Mutations in this gene have been found in patients with velocardiofacial syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]
CLDN6	chr16	3014712	3020071	-	ENSG00000184697.6	protein_coding	-	16p13.3	claudin 6	Low expression observed in reference dataset
CLDN7	chr17	7259903	7263983	-	ENSG00000181885.18	protein_coding	CEPTRL2|CLDN-7|CPETRL2|Hs.84359|claudin-1	17p13.1	claudin 7	This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. Differential expression of this gene has been observed in different types of malignancies, including breast cancer, ovarian cancer, hepatocellular carcinomas, urinary tumors, prostate cancer, lung cancer, head and neck cancers, thyroid carcinomas, etc.. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]
CLDN9	chr16	3012456	3014505	+	ENSG00000213937.3	protein_coding	DFNB116	16p13.3	claudin 9	This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. This protein is one of the entry cofactors for hepatitis C virus. Mouse studies revealed that this gene is required for the preservation of sensory cells in the hearing organ and the gene deficiency is associated with deafness. [provided by RefSeq, Jun 2010]
CLDND1	chr3	98497912	98523066	-	ENSG00000080822.16	protein_coding	C3orf4|GENX-3745|Z38	3q11.2	claudin domain containing 1	Broad expression in brain (RPKM 128.7), testis (RPKM 51.4) and 23 other tissues
CLDND2	chr19	51367098	51369003	-	ENSG00000160318.6	protein_coding	-	19q13.41	claudin domain containing 2	-
CLEC10A	chr17	7074537	7080307	-	ENSG00000132514.13	protein_coding	CD301|CLECSF13|CLECSF14|HML|HML2|MGL	17p13.1	C-type lectin domain containing 10A	This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell surface antigen. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
CLEC11A	chr19	50723329	50725718	+	ENSG00000105472.12	protein_coding	CLECSF3|LSLCL|P47|SCGF	19q13.33	C-type lectin domain containing 11A	This gene encodes a member of the C-type lectin superfamily. The encoded protein is a secreted sulfated glycoprotein and functions as a growth factor for primitive hematopoietic progenitor cells. An alternative splice variant has been described but its biological nature has not been determined. [provided by RefSeq, Jul 2008]
CLEC12A	chr12	9951316	9995694	+	ENSG00000172322.13	protein_coding	CD371|CLL-1|CLL1|DCAL-2|MICL	12p13.31	C-type lectin domain family 12 member A	This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The protein encoded by this gene is a negative regulator of granulocyte and monocyte function. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. This gene is closely linked to other CTL/CTLD superfamily members in the natural killer gene complex region on chromosome 12p13. [provided by RefSeq, May 2011]
CLEC16A	chr16	10944488	11182189	+	ENSG00000038532.14	protein_coding	Gop-1|KIAA0350	16p13.13	C-type lectin domain containing 16A	This gene encodes a member of the C-type lectin domain containing family. Single nucleotide polymorphisms in introns of this gene have been associated with diabetes mellitus, multiple sclerosis and rheumatoid arthritis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
CLEC17A	chr19	14583084	14611157	+	ENSG00000187912.11	protein_coding	-	19p13.12	C-type lectin domain containing 17A	-
CLEC18A	chr16	69950705	69964452	+	ENSG00000157322.17	protein_coding	MRCL|MRCL1|MRLP2	16q22.1	C-type lectin domain family 18 member A	This is one of three closely related paralogous genes on chromosome 16 encoding secreted proteins containing C-type lectin domains. These domains bind to carbohydrates in the presence of calcium, and may be involved in cell adhesion, immune response and apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]
CLEC18B	chr16	74408270	74421953	-	ENSG00000140839.11	protein_coding	MRCL2	16q23.1	C-type lectin domain family 18 member B	Biased expression in kidney (RPKM 34.8) and testis (RPKM 8.2)
CLEC18C	chr16	70173322	70187361	+	ENSG00000157335.20	protein_coding	MRCL|MRCL3	16q22.1	C-type lectin domain family 18 member C	Biased expression in kidney (RPKM 27.4) and testis (RPKM 7.1)
CLEC1A	chr12	10069554	10111627	-	ENSG00000150048.10	protein_coding	CLEC-1|CLEC1	12p13.2	C-type lectin domain family 1 member A	This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The encoded protein may play a role in regulating dendritic cell function. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
CLEC1B	chr12	9985642	10013424	-	ENSG00000165682.14	protein_coding	1810061I13Rik|CLEC2|CLEC2B|PRO1384|QDED721	12p13.31-p13.2	C-type lectin domain family 1 member B	Natural killer (NK) cells express multiple calcium-dependent (C-type) lectin-like receptors, such as CD94 (KLRD1; MIM 602894) and NKG2D (KLRC4; MIM 602893), that interact with major histocompatibility complex class I molecules and either inhibit or activate cytotoxicity and cytokine secretion. CLEC2 is a C-type lectin-like receptor expressed in myeloid cells and NK cells (Colonna et al., 2000 [PubMed 10671229]).[supplied by OMIM, Jan 2011]
CLEC2A	chr12	9898673	9932381	-	ENSG00000188393.8	protein_coding	INPE5792|KACL|PILAR|UNQ5792	12p13.31	C-type lectin domain family 2 member A	CLEC2A belongs to the CLEC2 family of activation-induced, natural killer gene complex-encoded C-type lectin-like receptors (Spreu et al., 2007 [PubMed 18046548]).[supplied by OMIM, May 2008]
CLEC2B	chr12	9852984	9870136	-	ENSG00000110852.4	protein_coding	AICL|CLECSF2|HP10085|IFNRG1	12p13.31	C-type lectin domain family 2 member B	This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type 2 transmembrane protein may function as a cell activation antigen. An alternative splice variant has been described but its full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]
CLEC2D	chr12	9664969	9699555	+	ENSG00000069493.14	protein_coding	CLAX|LLT1|OCIL	12p13.31	C-type lectin domain family 2 member D	This gene encodes a member of the natural killer cell receptor C-type lectin family. The encoded protein inhibits osteoclast formation and contains a transmembrane domain near the N-terminus as well as the C-type lectin-like extracellular domain. Several alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Oct 2010]
CLEC3B	chr3	45001548	45036071	+	ENSG00000163815.5	protein_coding	TN|TNA	3p21.31	C-type lectin domain family 3 member B	Broad expression in spleen (RPKM 63.9), fat (RPKM 63.1) and 20 other tissues
CLEC4E	chr12	8533305	8540963	-	ENSG00000166523.7	protein_coding	CLECSF9|MINCLE	12p13.31	C-type lectin domain family 4 member E	This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. The encoded type II transmembrane protein is a downstream target of CCAAT/enhancer binding protein (C/EBP), beta (CEBPB) and may play a role in inflammation. Alternative splice variants have been described but their full-length sequence has not been determined. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]
CLEC4F	chr2	70808643	70820600	-	ENSG00000152672.7	protein_coding	CLECSF13|KCLR	2p13.3	C-type lectin domain family 4 member F	Broad expression in small intestine (RPKM 1.6), spleen (RPKM 1.4) and 17 other tissues
CLEC4G	chr19	7728957	7733906	-	ENSG00000182566.13	protein_coding	DTTR431|LP2698|LSECtin|UNQ431	19p13.2	C-type lectin domain family 4 member G	This gene encodes a glycan-binding receptor and member of the C-type lectin family which plays a role in the immune response. C-type lectin receptors are pattern recognition receptors located on immune cells that play a role in the recognition and uptake of both self and non-self glycoproteins as well as mediating cell adhesion, glycoprotein clearance, and cell signaling functions. This genes protein binds complex-type N-glycans of the viral envelope proteins of Ebola virus, West Nile filovirus, and SARS coronavirus, but not HIV or hepatitis C virus. In mouse, this protein has been shown to recognize activated T-cells and to negatively regulate T-cell receptor-mediated signalling. It also acts as a novel, liver-specific regulator of NK cell-mediated immunity in mouse. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2020]
CLEC4GP1	chr19	7787549	7790621	+	ENSG00000268297.1	unprocessed_pseudogene	-	19p13.2	C-type lectin domain family 4 member G pseudogene 1	-
CLEC4M	chr19	7763149	7769605	+	ENSG00000104938.16	protein_coding	CD209L|CD299|DC-SIGN2|DC-SIGNR|DCSIGNR|HP10347|L-SIGN|LSIGN	19p13.2	C-type lectin domain family 4 member M	This gene encodes a C-type lectin that functions in cell adhesion and pathogen recognition. This receptor recognizes a wide range of evolutionarily divergent pathogens with a large impact on public health, including tuberculosis mycobacteria, and viruses including Ebola, hepatitis C, HIV-1, influenza A, West Nile virus and the SARS-CoV acute respiratory syndrome coronavirus. The protein is organized into four distinct domains: a C-terminal carbohydrate recognition domain, a flexible tandem-repeat neck domain of variable length, a transmembrane region and an N-terminal cytoplasmic domain involved in internalization. This gene is closely related in terms of both sequence and function to a neighboring gene, CD209 (Gene ID: 30835), also known as DC-SIGN. The two genes differ in viral recognition and expression patterns, with this gene showing high expression in endothelial cells of the liver, lymph node and placenta. Polymorphisms in the tandem repeat neck domain are associated with resistance to SARS infection. [provided by RefSeq, May 2020]
CLEC7A	chr12	10116777	10130258	-	ENSG00000172243.17	protein_coding	BGR|CANDF4|CD369|CLECSF12|DECTIN1|SCARE2	12p13.2	C-type lectin domain containing 7A	This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. The encoded glycoprotein is a small type II membrane receptor with an extracellular C-type lectin-like domain fold and a cytoplasmic domain with an immunoreceptor tyrosine-based activation motif. It functions as a pattern-recognition receptor that recognizes a variety of beta-1,3-linked and beta-1,6-linked glucans from fungi and plants, and in this way plays a role in innate immune response. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. This gene is closely linked to other CTL/CTLD superfamily members on chromosome 12p13 in the natural killer gene complex region. [provided by RefSeq, Jul 2008]
CLECL1	chr12	9715860	9733299	-	ENSG00000184293.7	protein_coding	DCAL-1|DCAL1	12p13.31	C-type lectin like 1	This gene encodes a type II transmembrane, C-type lectin-like protein that is highly expressed on dendritic and B cells. This protein may act as a T-cell costimulatory molecule that enhances interleukin-4 production, and maybe involved in the regulation of the immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
CLGN	chr4	140388455	140427968	-	ENSG00000153132.12	protein_coding	-	4q31.1	calmegin	Biased expression in testis (RPKM 66.0), heart (RPKM 22.6) and 2 other tissues
CLHC1	chr2	55174791	55232563	-	ENSG00000162994.15	protein_coding	C2orf63	2p16.1	clathrin heavy chain linker domain containing 1	Broad expression in testis (RPKM 1.3), thyroid (RPKM 0.8) and 24 other tissues
CLIC1	chr6	31730581	31739763	-	ENSG00000213719.8	protein_coding	CL1C1|CLCNL1|G6|NCC27	6p21.33	chloride intracellular channel 1	Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 1  is a member of the p64 family; the protein localizes principally to the cell nucleus and exhibits both nuclear and plasma membrane chloride ion channel activity. [provided by RefSeq, Jul 2008]
CLIC1P1	chr12	120914400	120915123	+	ENSG00000231313.2	processed_pseudogene	-	12q24.31	chloride intracellular channel 1 pseudogene 1	-
CLIC2	chrX	155276211	155334657	-	ENSG00000155962.12	protein_coding	CLCNL2|CLIC2b|MRXS32|XAP121	Xq28	chloride intracellular channel 2	This gene encodes a chloride intracellular channel protein. Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. This protein plays a role in inhibiting the function of ryanodine receptor 2. A mutation in this gene is the cause of an X-linked form of cognitive disability. [provided by RefSeq, Jul 2017]
CLIC3	chr9	136994635	136996803	-	ENSG00000169583.12	protein_coding	-	9q34.3	chloride intracellular channel 3	Biased expression in esophagus (RPKM 23.8), thyroid (RPKM 21.4) and 5 other tissues
CLIC4	chr1	24745357	24844324	+	ENSG00000169504.14	protein_coding	CLIC4L|H1|MTCLIC|huH1|p64H1	1p36.11	chloride intracellular channel 4	Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellular pH, and regulation of cell volume. Chloride intracellular channel 4 (CLIC4) protein, encoded by the CLIC4 gene, is a member of the p64 family; the gene is expressed in many tissues and exhibits a intracellular vesicular pattern in Panc-1 cells (pancreatic cancer cells). [provided by RefSeq, Jul 2008]
CLIC5	chr6	45898451	46080395	-	ENSG00000112782.15	protein_coding	DFNB102|DFNB103|MST130|MSTP130	6p21.1	chloride intracellular channel 5	This gene encodes a member of the chloride intracellular channel (CLIC) family of chloride ion channels. The encoded protein associates with actin-based cytoskeletal structures and may play a role in multiple processes including hair cell stereocilia formation, myoblast proliferation and glomerular podocyte and endothelial cell maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
CLIC6	chr21	34669389	34718227	+	ENSG00000159212.12	protein_coding	CLIC1L	21q22.12	chloride intracellular channel 6	This gene encodes a member of the chloride intracellular channel family of proteins. The gene is part of a large triplicated region found on chromosomes 1, 6, and 21. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2015]
CLINT1	chr5	157785743	157859175	-	ENSG00000113282.13	protein_coding	CLINT|ENTH|EPN4|EPNR	5q33.3	clathrin interactor 1	This gene encodes a protein with similarity to the epsin family of endocytic adapter proteins. The encoded protein interacts with clathrin, the adapter protein AP-1 and phosphoinositides. This protein may be involved in the formation of clathrin coated vesicles and trafficking between the trans-Golgi network and endosomes. Mutations in this gene are associated with a susceptibility to schizophrenia and psychotic disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]
CLIP1	chr12	122271432	122422632	-	ENSG00000130779.19	protein_coding	CLIP|CLIP-170|CLIP170|CYLN1|RSN	12q24.31	CAP-Gly domain containing linker protein 1	The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
CLIP1-AS1	chr12	122395542	122400857	+	ENSG00000257097.1	lincRNA	-	12q24.31	CLIP1 antisense RNA 1	-
CLIP2	chr7	74289475	74405943	+	ENSG00000106665.15	protein_coding	CLIP|CLIP-115|CYLN2|WBSCR3|WBSCR4|WSCR3|WSCR4	7q11.23	CAP-Gly domain containing linker protein 2	The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
CLIP3	chr19	36014660	36033343	-	ENSG00000105270.14	protein_coding	CLIPR-59|CLIPR59|RSNL1	19q13.12	CAP-Gly domain containing linker protein 3	This gene encodes a member of the cytoplasmic linker protein 170 family. Members of this protein family contain a cytoskeleton-associated protein glycine-rich domain and mediate the interaction of microtubules with cellular organelles. The encoded protein plays a role in T cell apoptosis by facilitating the association of tubulin and the lipid raft ganglioside GD3. The encoded protein also functions as a scaffold protein mediating membrane localization of phosphorylated protein kinase B. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
CLIP4	chr2	29097705	29189643	+	ENSG00000115295.19	protein_coding	RSNL2	2p23.2	CAP-Gly domain containing linker protein family member 4	Ubiquitous expression in thyroid (RPKM 10.8), skin (RPKM 7.6) and 23 other tissues
CLK1	chr2	200853009	200864744	-	ENSG00000013441.15	protein_coding	CLK|CLK/STY|STY	2q33.1	CDC like kinase 1	This gene encodes a member of the CDC2-like (or LAMMER) family of dual specificity protein kinases. In the nucleus, the encoded protein phosphorylates serine/arginine-rich proteins involved in pre-mRNA processing, releasing them into the nucleoplasm. The choice of splice sites during pre-mRNA processing may be regulated by the concentration of transacting factors, including serine/arginine rich proteins. Therefore, the encoded protein may play an indirect role in governing splice site selection. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
CLK2	chr1	155262868	155278491	-	ENSG00000176444.18	protein_coding	-	1q22	CDC like kinase 2	Ubiquitous expression in spleen (RPKM 18.0), lymph node (RPKM 16.4) and 25 other tissues
CLK2P1	chr7	23585062	23586355	-	ENSG00000232553.3	processed_pseudogene	CLK2P	7p15.3	CDC like kinase 2, pseudogene 1	-
CLK3	chr15	74598500	74645414	+	ENSG00000179335.18	protein_coding	PHCLK3|PHCLK3/152	15q24.1	CDC like kinase 3	This gene encodes a protein belonging to the serine/threonine type protein kinase family. This protein is a nuclear dual-specificity kinase that regulates the intranuclear distribution of the serine/arginine-rich (SR) family of splicing factors. Two transcript variants encoding different isoforms have been found for this gene. Related pseudogenes are located on chromosomes 1 and 9. [provided by RefSeq, Jul 2008]
CLK3P2	chr1	247936061	247937513	-	ENSG00000226191.3	processed_pseudogene	-	1q44	CDC like kinase 3 pseudogene 2	-
CLK4	chr5	178602664	178630615	-	ENSG00000113240.12	protein_coding	-	5q35.3	CDC like kinase 4	Ubiquitous expression in lymph node (RPKM 15.9), bone marrow (RPKM 13.8) and 25 other tissues
CLMAT3	chr5	 151676945	151687910	+	ENSG00000249035	ncRNA	CTB-113P19.1|SPARC-AS1	5q33.1	colorectal liver metastasis associated transcript 3	Broad expression in fat (RPKM 19.7), placenta (RPKM 11.8) and 18 other tissues
CLN3	chr16	28474111	28495575	-	ENSG00000188603.18	protein_coding	BTN1|BTS|JNCL	16p12.1	CLN3 lysosomal/endosomal transmembrane protein, battenin	This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
CLN5	chr13	76990660	77019143	+	ENSG00000102805.14	protein_coding	-	13q22.3	CLN5 intracellular trafficking protein	Ubiquitous expression in thyroid (RPKM 44.6), kidney (RPKM 19.6) and 24 other tissues
CLN6	chr15	68206992	68257211	-	ENSG00000128973.12	protein_coding	CLN4A|HsT18960|nclf	15q23	CLN6 transmembrane ER protein	This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]
CLN8	chr8	1755778	1801711	+	ENSG00000182372.9	protein_coding	C8orf61|EPMR|TLCD6	8p23.3	CLN8 transmembrane ER and ERGIC protein	This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017]
CLNK	chr4	10486395	10684865	-	ENSG00000109684.14	protein_coding	MIST	4p16.1	cytokine dependent hematopoietic cell linker	MIST is a member of the SLP76 family of adaptors (see LCP2, MIM 601603; BLNK, MIM 604515). MIST plays a role in the regulation of immunoreceptor signaling, including PLC-gamma (PLCG1; MIM 172420)-mediated B cell antigen receptor (BCR) signaling and FC-epsilon R1 (see FCER1A, MIM 147140)-mediated mast cell degranulation (Cao et al., 1999 [PubMed 10562326]; Goitsuka et al., 2000, 2001 [PubMed 10744659] [PubMed 11463797]).[supplied by OMIM, Mar 2008]
CLNS1A	chr11	77514936	77637805	-	ENSG00000074201.8	protein_coding	CLCI|CLNS1B|ICln	11q14.1	chloride nucleotide-sensitive channel 1A	This gene encodes a protein that functions in multiple regulatory pathways. The encoded protein complexes with numerous cytosolic proteins and performs diverse functions including regulation of small nuclear ribonucleoprotein biosynthesis, platelet activation and cytoskeletal organization. The protein is also found associated with the plasma membrane where it functions as a chloride current regulator. Pseudogenes of this gene are found on chromosomes 1, 4 and 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
CLOCK	chr4	55427903	55547138	-	ENSG00000134852.14	protein_coding	KAT13D|bHLHe8	4q12	clock circadian regulator	The protein encoded by this gene plays a central role in the regulation of circadian rhythms. The protein encodes a transcription factor of the basic helix-loop-helix (bHLH) family and contains DNA binding histone acetyltransferase activity. The encoded protein forms a heterodimer with ARNTL (BMAL1) that binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Polymorphisms in this gene may be associated with behavioral changes in certain populations and with obesity and metabolic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
CLP1	chr11	57648992	57661868	+	ENSG00000172409.5	protein_coding	HEAB|hClp1	11q12.1	cleavage factor polyribonucleotide kinase subunit 1	This gene encodes a member of the Clp1 family. The encoded protein is a multifunctional kinase which is a component of the tRNA splicing endonuclease complex and a component of the pre-mRNA cleavage complex II. This protein is implicated in tRNA, mRNA, and siRNA maturation. Mutations in this gene are associated with pontocerebellar hypoplasia type 10 (PCH10). Alternatively splice transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
CLPB	chr11	72292425	72434680	-	ENSG00000162129.12	protein_coding	ANKCLB|HSP78|MEGCANN|MGCA7|SKD3	11q13.4	caseinolytic mitochondrial matrix peptidase chaperone subunit B	This gene belongs to the ATP-ases associated with diverse cellular activities (AAA+) superfamily. Members of this superfamily form ring-shaped homo-hexamers and have highly conserved ATPase domains that are involved in various processes including DNA replication, protein degradation and reactivation of misfolded proteins. All members of this family hydrolyze ATP through their AAA+ domains and use the energy generated through ATP hydrolysis to exert mechanical force on their substrates. In addition to an AAA+ domain, the protein encoded by this gene contains a C-terminal D2 domain, which is characteristic of the AAA+ subfamily of Caseinolytic peptidases to which this protein belongs. It cooperates with Hsp70 in the disaggregation of protein aggregates. Allelic variants of this gene are associated with 3-methylglutaconic aciduria, which causes cataracts and neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
CLPP	chr19	6361452	6368908	+	ENSG00000125656.8	protein_coding	DFNB81|PRLTS3	19p13.3	caseinolytic mitochondrial matrix peptidase proteolytic subunit	The protein encoded by this gene belongs to the peptidase family S14 and hydrolyzes proteins into small peptides in the presence of ATP and magnesium. The protein is transported into mitochondrial matrix and is associated with the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]
CLPS	chr6	35794982	35797344	-	ENSG00000137392.9	protein_coding	-	6p21.31	colipase	Restricted expression toward pancreas (RPKM 17741.6)
CLPSL1	chr6	35781017	35793675	+	ENSG00000204140.9	protein_coding	C6orf127|ESP32|dJ510O8.6	6p21.31	colipase like 1	Restricted expression toward pancreas (RPKM 4.4)
CLPSL2	chr6	35776594	35779552	+	ENSG00000196748.9	protein_coding	AAAL3045|C6orf126|UNQ3045|dJ510O8.5	6p21.31	colipase like 2	Predicted to enable enzyme activator activity. Predicted to be involved in response to food. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
CLPTM1	chr19	44954585	44993341	+	ENSG00000104853.15	protein_coding	-	19q13.32	CLPTM1 regulator of GABA type A receptor forward trafficking	-
CLPTM1L	chr5	1317744	1345099	-	ENSG00000049656.13	protein_coding	CRR9	5p15.33	CLPTM1 like	The protein encoded by this gene is a membrane protein whose overexpression in cisplatin-sensitive cells causes apoptosis. Polymorphisms in this gene have been reported to increase susceptibility to several cancers, including lung, pancreatic, and breast cancers. [provided by RefSeq, Nov 2015]
CLPX	chr15	65148219	65185342	-	ENSG00000166855.9	protein_coding	EPP2	15q22.31	caseinolytic mitochondrial matrix peptidase chaperone subunit X	The protein encoded by this gene is part of a protease found in mitochondria. This protease is ATP-dependent and targets specific proteins for degradation. The protease consists of two heptameric rings of the CLPP catalytic subunit sandwiched between two hexameric rings of the chaperone subunit encoded by this gene. Targeted proteins are unwound by this protein and then passed on to the CLPP subunit for degradation. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2015]
CLRN1	chr3	150926163	150972999	-	ENSG00000163646.10	protein_coding	RP61|USH3|USH3A	3q25.1	clarin 1	This gene encodes a protein that contains a cytosolic N-terminus, multiple helical transmembrane domains, and an endoplasmic reticulum membrane retention signal, TKGH, in the C-terminus. The encoded protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIIa. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
CLSPN	chr1	35720218	35769967	-	ENSG00000092853.13	protein_coding	-	1p34.3	claspin	Broad expression in bone marrow (RPKM 2.6), testis (RPKM 2.4) and 16 other tissues
CLSTN1	chr1	9729026	9824526	-	ENSG00000171603.16	protein_coding	ALC-ALPHA|CDHR12|CST-1|CSTN1|PIK3CD|XB31alpha|alcalpha1|alcalpha2	1p36.22	calsyntenin 1	This gene is a member of the calsyntenin family, a subset of the cadherin superfamily. The encoded transmembrane protein, also known as alcadein-alpha, is thought to bind to kinesin-1 motors to mediate the axonal anterograde transport of certain types of vesicle. Amyloid precursor protein (APP) is trafficked via these vesicles and so this protein is being investigated to see how it might contribute to the mechanisms underlying Alzheimers disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
CLSTN2	chr3	139935185	140577397	+	ENSG00000158258.16	protein_coding	ALC-GAMMA|CDHR13|CS2|CSTN2|alcagamma	3q23	calsyntenin 2	Biased expression in ovary (RPKM 37.4), brain (RPKM 15.7) and 6 other tissues
CLTA	chr9	36190856	36304781	+	ENSG00000122705.16	protein_coding	LCA	9p13.3	clathrin light chain A	Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq, May 2010]
CLTB	chr5	176392455	176416569	-	ENSG00000175416.12	protein_coding	LCB	5q35.2	clathrin light chain B	Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap specific macromolecules during receptor-mediated endocytosis. This gene encodes one of two clathrin light chain proteins which are believed to function as regulatory elements. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
CLTC	chr17	59619689	59696956	+	ENSG00000141367.11	protein_coding	CHC|CHC17|CLH-17|CLTCL2|Hc|MRD56	17q23.1	clathrin heavy chain	 Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules.  The basic subunit of the clathrin coat is composed of three heavy chains and three light chains. [provided by RefSeq, Jul 2008]
CLTCL1	chr22	19179473	19291716	-	ENSG00000070371.15	protein_coding	CHC22|CLH22|CLTCL|CLTD	22q11.21	clathrin heavy chain like 1	This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
CLU	chr8	27596917	27615031	-	ENSG00000120885.21	protein_coding	AAG4|APO-J|APOJ|CLI|CLU1|CLU2|KUB1|NA1/NA2|SGP-2|SGP2|SP-40|TRPM-2|TRPM2	8p21.1	clusterin	The protein encoded by this gene is a secreted chaperone that can under some stress conditions also be found in the cell cytosol. It has been suggested to be involved in several basic biological events such as cell death, tumor progression, and neurodegenerative disorders. Alternate splicing results in both coding and non-coding variants.[provided by RefSeq, May 2011]
CLUAP1	chr16	3500924	3539048	+	ENSG00000103351.12	protein_coding	CFAP22|FAP22|IFT38	16p13.3	clusterin associated protein 1	The protein encoded by this gene contains a single coiled-coil region. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
CLUH	chr17	2689386	2712663	-	ENSG00000132361.16	protein_coding	CLU1	17p13.3	clustered mitochondria homolog	Ubiquitous expression in kidney (RPKM 25.8), duodenum (RPKM 18.1) and 25 other tissues
CLVS1	chr8	61057158	61501645	+	ENSG00000177182.10	protein_coding	C6orf212L|CRALBPL|RLBP1L1	8q12.2-q12.3	clavesin 1	Broad expression in fat (RPKM 24.7), adrenal (RPKM 7.1) and 18 other tissues
CLYBL	chr13	99606669	99897134	+	ENSG00000125246.15	protein_coding	CLB	13q32.3	citramalyl-CoA lyase	Broad expression in kidney (RPKM 2.9), liver (RPKM 2.6) and 22 other tissues
CMA1	chr14	24505353	24508265	-	ENSG00000092009.10	protein_coding	CYH|MCT1|chymase	14q12	chymase 1	This gene encodes a chymotryptic serine proteinase that belongs to the peptidase family S1. It is expressed in mast cells and is thought to function in the degradation of the extracellular matrix, the regulation of submucosal gland secretion, and the generation of vasoactive peptides. In the heart and blood vessels, this protein, rather than angiotensin converting enzyme, is largely responsible for converting angiotensin I to the vasoactive peptide angiotensin II. Alternative splicing results in multiple variants. [provided by RefSeq, Apr 2015]
CMAHP	chr6	25081068	25166555	-	ENSG00000168405.15	processed_transcript	CMAH|CSAH	6p22.3	cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene	Sialic acids are terminal components of the carbohydrate chains of glycoconjugates involved in ligand-receptor, cell-cell, and cell-pathogen interactions. The two most common forms of sialic acid found in mammalian cells are N-acetylneuraminic acid (Neu5Ac) and its hydroxylated derivative, N-glycolylneuraminic acid (Neu5Gc). Studies of sialic acid distribution show that Neu5Gc is not detectable in normal human tissues although it was an abundant sialic acid in other mammals. Neu5Gc is, in actuality, immunogenic in humans. The absense of Neu5Gc in humans is due to a deletion within the human gene CMAH encoding cytidine monophosphate-N-acetylneuraminic acid hydroxylase, an enzyme responsible for Neu5Gc biosynthesis. Sequences encoding the mouse, pig, and chimpanzee hydroxylase enzymes were obtained by cDNA cloning and found to be highly homologous. However, the homologous human cDNA differs from these cDNAs by a 92-bp deletion in the 5 region. This deletion, corresponding to exon 6 of the mouse hydroxylase gene, causes a frameshift mutation and premature termination of the polypeptide chain in human. It seems unlikely that the truncated human hydroxylase mRNA encodes for an active enzyme explaining why Neu5Gc is undetectable in normal human tissues. Human genomic DNA also shows evidence of this deletion which does not occur in the genomes of African great apes. Nonetheless, the CMAH gene maps to 6p21.32 in humans and great apes indicating that mutation of the CMAH gene occurred following human divergence from chimpanzees and bonobos. [provided by RefSeq, Jul 2008]
CMAS	chr12	22046174	22065674	+	ENSG00000111726.12	protein_coding	CSS	12p12.1	cytidine monophosphate N-acetylneuraminic acid synthetase	This gene encodes an enzyme that converts N-acetylneuraminic acid (NeuNAc) to cytidine 5-monophosphate N-acetylneuraminic acid (CMP-NeuNAc). This process is important in the formation of sialylated glycoprotein and glycolipids. This modification plays a role in cell-cell communications and immune responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
CMB9-22P13.1	chr11	65455258	65466720	+	ENSG00000173727.12	transcribed_unprocessed_pseudogene	-	-	-	-
CMB9-55A18.1	chr11	58611119	58612642	-	ENSG00000269570.2	antisense	-	-	-	-
CMB9-55F22.1	chr11	779617	780755	+	ENSG00000279672.1	TEC	-	-	-	-
CMBL	chr5	10275875	10308026	-	ENSG00000164237.8	protein_coding	JS-1	5p15.2	carboxymethylenebutenolidase homolog	CMBL (EC 3.1.1.45) is a cysteine hydrolase of the dienelactone hydrolase family that is highly expressed in liver cytosol. CMBL preferentially cleaves cyclic esters, and it activates medoxomil-ester prodrugs in which the medoxomil moiety is linked to an oxygen atom (Ishizuka et al., 2010 [PubMed 20177059]).[supplied by OMIM, Apr 2010]
CMC1	chr3	28241584	28325142	+	ENSG00000187118.12	protein_coding	C3orf68	3p24.1	C-X9-C motif containing 1	Ubiquitous expression in fat (RPKM 5.4), kidney (RPKM 3.5) and 25 other tissues
CMC2	chr16	80966448	81020270	-	ENSG00000103121.8	protein_coding	2310061C15Rik|C16orf61|DC13	16q23.2	C-X9-C motif containing 2	Ubiquitous expression in testis (RPKM 22.1), heart (RPKM 16.6) and 25 other tissues
CMIP	chr16	81445170	81711762	+	ENSG00000153815.16	protein_coding	TCMIP	16q23.2-q23.3	c-Maf inducing protein	This gene encodes a c-Maf inducing protein that plays a role in T-cell signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
CMKLR1	chr12	108288044	108339341	-	ENSG00000174600.13	protein_coding	CHEMERINR|ChemR23|DEZ|RVER1	12q23.3	chemerin chemokine-like receptor 1	Broad expression in spleen (RPKM 14.3), placenta (RPKM 10.1) and 22 other tissues
CMKLR2	chr2	 206175316	206217912	-	ENSG00000183671	protein-coding	GPR1	2q33.3	chemerin chemokine-like receptor 2	-
CMPK1	chr1	47333797	47378839	+	ENSG00000162368.13	protein_coding	CK|CMK|CMPK|UMK|UMP-CMPK|UMPK	1p33	cytidine/uridine monophosphate kinase 1	This gene encodes one of the enzymes required for cellular nucleic acid biosynthesis. This enzyme catalyzes the transfer of a phosphate group from ATP to CMP, UMP, or dCMP, to form the corresponding diphosphate nucleotide. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Feb 2012]
CMSS1	chr3	99817834	100181732	+	ENSG00000184220.11	protein_coding	C3orf26	3q12.1	cms1 ribosomal small subunit homolog	Ubiquitous expression in testis (RPKM 15.9), adrenal (RPKM 15.4) and 25 other tissues
CMTM1	chr16	66566393	66579137	+	ENSG00000089505.17	protein_coding	CKLFH|CKLFH1|CKLFSF1	16q21	CKLF like MARVEL transmembrane domain containing 1	This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. Alternatively spliced transcript variants encoding different isoforms have been identified. Naturally occurring read-through transcription occurs between this locus and the neighboring locus CKLF (chemokine-like factor).[provided by RefSeq, Feb 2011]
CMTM2	chr16	66579448	66588275	+	ENSG00000140932.9	protein_coding	CKLFSF2	16q21	CKLF like MARVEL transmembrane domain containing 2	This gene belongs to the chemokine-like factor gene superfamily, a novel family that links the chemokine and the transmembrane 4 superfamilies of signaling molecules. The protein encoded by this gene may play an important role in testicular development. [provided by RefSeq, Jul 2008]
CMTM3	chr16	66603874	66613892	+	ENSG00000140931.19	protein_coding	BNAS2|CKLFSF3	16q22.1	CKLF like MARVEL transmembrane domain containing 3	This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants containing different 5 UTRs, but encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
CMTM4	chr16	66614750	66696707	-	ENSG00000183723.12	protein_coding	CKLFSF4	16q21-q22.1	CKLF like MARVEL transmembrane domain containing 4	This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and the transmembrane 4 superfamilies of signaling molecules. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 16. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
CMTM5	chr14	23376808	23379772	+	ENSG00000166091.19	protein_coding	CKLFSF5	14q11.2	CKLF like MARVEL transmembrane domain containing 5	This gene encodes a member of the chemokine-like factor superfamily. This family of genes encodes multi-pass membrane proteins that are similar to both the chemokine and the transmembrane 4 superfamilies of signaling molecules. The encoded protein may exhibit tumor suppressor activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
CMTM6	chr3	32481312	32503408	-	ENSG00000091317.7	protein_coding	CKLFSF6|PRO2219	3p22.3	CKLF like MARVEL transmembrane domain containing 6	This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene is widely expressed in many tissues, but the exact function of the encoded protein is unknown. [provided by RefSeq, Jul 2008]
CMTM7	chr3	32391671	32483067	+	ENSG00000153551.13	protein_coding	CKLFSF7	3p22.3	CKLF like MARVEL transmembrane domain containing 7	This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene acts as a tumor suppressor that regulates G1/S transition in the cell cycle, and epidermal growth factor receptor/protein kinase B signaling during tumor pathogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
CMTR1	chr6	37433219	37482827	+	ENSG00000137200.12	protein_coding	FTSJD2|KIAA0082|MTr1|hMTr1	6p21.2	cap methyltransferase 1	Ubiquitous expression in testis (RPKM 31.1), spleen (RPKM 12.4) and 25 other tissues
CMTR2	chr16	71281389	71289715	-	ENSG00000180917.17	protein_coding	AFT|FTSJD1|HMTr2|MTr2	16q22.2	cap methyltransferase 2	Ubiquitous expression in thyroid (RPKM 7.6), testis (RPKM 6.7) and 25 other tissues
CMYA5	chr5	79689877	79800240	+	ENSG00000164309.14	protein_coding	C5orf10|SPRYD2|TRIM76	5q14.1	cardiomyopathy associated 5	Biased expression in heart (RPKM 66.0), ovary (RPKM 8.5) and 3 other tissues
CNBD2	chr20	35954564	36030700	+	ENSG00000149646.12	protein_coding	C20orf152|CNMPD1	20q11.23	cyclic nucleotide binding domain containing 2	Biased expression in testis (RPKM 3.5) and kidney (RPKM 0.1)
CNBP	chr3	129169484	129183922	-	ENSG00000169714.16	protein_coding	CNBP1|DM2|PROMM|RNF163|ZCCHC22|ZNF9	3q21.3	CCHC-type zinc finger nucleic acid binding protein	This gene encodes a nucleic-acid binding protein with seven zinc-finger domains. The protein has a preference for binding single stranded DNA and RNA. The protein functions in cap-independent translation of ornithine decarboxylase mRNA, and may also function in sterol-mediated transcriptional regulation. A CCTG expansion from <30 repeats to 75-11000 repeats in the first intron of this gene results in myotonic dystrophy type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]
CNEP1R1	chr16	50024410	50037088	+	ENSG00000205423.11	protein_coding	C16orf69|NEP1-R1|NEP1R1|TMEM188|TMP125	16q12.1	CTD nuclear envelope phosphatase 1 regulatory subunit 1	This gene encodes a transmembrane protein that belongs to the Tmemb_18A family. A similar protein in yeast is a component of an endoplasmic reticulum-associated protein phosphatase complex and is thought to play a role in the synthesis of triacylglycerol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
CNFN	chr19	42387019	42390287	-	ENSG00000105427.9	protein_coding	PLAC8L2	19q13.2	cornifelin	Predicted to be involved in keratinization. Located in cornified envelope. [provided by Alliance of Genome Resources, Apr 2022]
CNGA1	chr4	47935977	48016672	-	ENSG00000198515.13	protein_coding	CNCG|CNCG1|CNG-1|CNG1|RCNC1|RCNCa|RCNCalpha|RP49	4p12	cyclic nucleotide gated channel subunit alpha 1	The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Multiple transcript variants have been found for this gene. [provided by RefSeq, Oct 2019]
CNGB1	chr16	57882340	57971116	-	ENSG00000070729.13	protein_coding	CNCG2|CNCG3L|CNCG4|CNG4|CNGB1B|GAR1|GARP|GARP2|RCNC2|RCNCb|RCNCbeta|RP45	16q21	cyclic nucleotide gated channel subunit beta 1	In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
CNGB3	chr8	86553977	86743675	-	ENSG00000170289.12	protein_coding	ACHM1	8q21.3	cyclic nucleotide gated channel subunit beta 3	This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]
CNIH1	chr14	54423560	54441431	-	ENSG00000100528.11	protein_coding	CNIH|CNIH-1|CNIL|TGAM77	14q22.2	cornichon family AMPA receptor auxiliary protein 1	Ubiquitous expression in liver (RPKM 47.9), duodenum (RPKM 41.3) and 25 other tissues
CNIH2	chr11	66278190	66285301	+	ENSG00000174871.10	protein_coding	CNIH-2|Cnil	11q13.2	cornichon family AMPA receptor auxiliary protein 2	The protein encoded by this gene is an auxiliary subunit of the ionotropic glutamate receptor of the AMPA subtype. AMPA receptors mediate fast synaptic neurotransmission in the central nervous system. This protein has been reported to interact with the Type I AMPA receptor regulatory protein isoform gamma-8 to control assembly of hippocampal AMPA receptor complexes, thereby modulating receptor gating and pharmacology. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
CNIH3	chr1	224434660	224740549	+	ENSG00000143786.7	protein_coding	CNIH-3	1q42.12	cornichon family AMPA receptor auxiliary protein 3	Predicted to enable channel regulator activity. Involved in regulation of AMPA receptor activity. Predicted to be located in dendritic shaft and postsynaptic membrane. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in dendrite and glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2022]
CNIH4	chr1	224356850	224379459	+	ENSG00000143771.11	protein_coding	CNIH-4|CNIH2|HSPC163	1q42.11	cornichon family AMPA receptor auxiliary protein 4	Ubiquitous expression in placenta (RPKM 7.6), colon (RPKM 7.3) and 25 other tissues
CNKSR1	chr1	26177403	26189886	+	ENSG00000142675.17	protein_coding	CNK|CNK1	1p36.11	connector enhancer of kinase suppressor of Ras 1	This gene encodes a protein containing several motifs involved in protein-protein interaction, including PDZ, PH (Pleckstrin homology), and SAM (sterile alpha motif) domains. The encoded protein acts as a scaffold component for receptor tyrosine kinase signaling and may mediate crosstalk between different signaling pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
CNKSR3	chr6	154387504	154510659	-	ENSG00000153721.18	protein_coding	CNK3|CNK3/IPCEF1|MAGI1	6q25.2	CNKSR family member 3	Ubiquitous expression in esophagus (RPKM 6.3), kidney (RPKM 5.3) and 24 other tissues
CNMD	chr13	52703264	52739812	-	ENSG00000136110.12	protein_coding	BRICD3|CHM-I|CHM1|LECT1|MYETS1	13q14.3	chondromodulin	This gene encodes a glycosylated transmembrane protein that is cleaved to form a mature, secreted protein. The N-terminus of the precursor protein shares characteristics with other surfactant proteins and is sometimes called chondrosurfactant protein although no biological activity has yet been defined for it. The C-terminus of the precursor protein contains a 25 kDa mature protein called leukocyte cell-derived chemotaxin-1 or chondromodulin-1. The mature protein promotes chondrocyte growth and inhibits angiogenesis. This gene is expressed in the avascular zone of prehypertrophic cartilage and its expression decreases during chondrocyte hypertrophy and vascular invasion. The mature protein likely plays a role in endochondral bone development by permitting cartilaginous anlagen to be vascularized and replaced by bone. It may be involved also in the broad control of tissue vascularization during development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
CNN1	chr19	11538717	11550323	+	ENSG00000130176.7	protein_coding	HEL-S-14|SMCC|Sm-Calp	19p13.2	calponin 1	Biased expression in urinary bladder (RPKM 288.3), endometrium (RPKM 280.5) and 11 other tissues
CNN2	chr19	1026581	1039068	+	ENSG00000064666.14	protein_coding	-	19p13.3	calponin 2	Ubiquitous expression in lymph node (RPKM 70.8), appendix (RPKM 62.8) and 24 other tissues
CNN2P9	chr6	110858239	110859147	+	ENSG00000213149.3	processed_pseudogene	-	6q21	calponin 2 pseudogene 9	-
CNN3	chr1	94896949	94927278	-	ENSG00000117519.15	protein_coding	-	1p21.3	calponin 3	Ubiquitous expression in adrenal (RPKM 52.9), placenta (RPKM 49.2) and 24 other tissues
CNNM1	chr10	99329099	99394330	+	ENSG00000119946.10	protein_coding	ACDP1|CLP-1	10q24.2	cyclin and CBS domain divalent metal cation transport mediator 1	This gene encodes a member of the ancient conserved domain protein family. The encoded protein may bind copper. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
CNNM2	chr10	102918293	103090221	+	ENSG00000148842.17	protein_coding	ACDP2|HOMG6|HOMGSMR	10q24.32	cyclin and CBS domain divalent metal cation transport mediator 2	This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
CNNM3	chr2	96816245	96833911	+	ENSG00000168763.15	protein_coding	ACDP3	2q11.2	cyclin and CBS domain divalent metal cation transport mediator 3	Ubiquitous expression in duodenum (RPKM 7.6), small intestine (RPKM 6.3) and 25 other tissues
CNNM4	chr2	96760902	96811891	+	ENSG00000158158.11	protein_coding	ACDP4	2q11.2	cyclin and CBS domain divalent metal cation transport mediator 4	This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play a role in metal ion transport. Mutations in this gene are associated with Jalili syndrome which consists of cone-rod dystrophy and amelogenesis imperfecta. [provided by RefSeq, Feb 2010]
CNOT1	chr16	58519951	58629886	-	ENSG00000125107.17	protein_coding	AD-005|CDC39|HPE12|NOT1|NOT1H|VIBOS	16q21	CCR4-NOT transcription complex subunit 1	Ubiquitous expression in testis (RPKM 56.3), esophagus (RPKM 28.6) and 25 other tissues
CNOT10	chr3	32685145	32773875	+	ENSG00000182973.18	protein_coding	-	3p22.3	CCR4-NOT transcription complex subunit 10	-
CNOT10-AS1	chr3	32730635	32737454	-	ENSG00000251224.1	antisense	-	3p22.3	CNOT10 antisense RNA 1	-
CNOT2	chr12	70242994	70354993	+	ENSG00000111596.11	protein_coding	CDC36|HSPC131|IDNADFS|NOT2|NOT2H	12q15	CCR4-NOT transcription complex subunit 2	This gene encodes a subunit of the multi-component CCR4-NOT complex. The CCR4-NOT complex regulates mRNA synthesis and degradation and is also thought to be involved in mRNA splicing, transport and localization. The encoded protein interacts with histone deacetylases and functions as a repressor of polymerase II transcription. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
CNOT3	chr19	54137728	54155681	+	ENSG00000088038.17	protein_coding	IDDSADF|LENG2|NOT3|NOT3H	19q13.42	CCR4-NOT transcription complex subunit 3	Ubiquitous expression in testis (RPKM 13.9), spleen (RPKM 9.7) and 25 other tissues
CNOT4	chr7	135361795	135510127	-	ENSG00000080802.18	protein_coding	CLONE243|NOT4|NOT4H	7q33	CCR4-NOT transcription complex subunit 4	The protein encoded by this gene is a subunit of the CCR4-NOT complex, a global transcriptional regulator. The encoded protein interacts with CNOT1 and has E3 ubiquitin ligase activity. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]
CNOT6	chr5	180494412	180578405	+	ENSG00000113300.11	protein_coding	CCR4|Ccr4a	5q35.3	CCR4-NOT transcription complex subunit 6	This gene encodes the catalytic component of the CCR4-NOT core transcriptional regulation complex. The encoded protein has a 3-5 RNase activity and prefers polyadenylated substrates. The CCR4-NOT complex plays a role in many cellular processes, including miRNA-mediated repression, mRNA degradation, and transcriptional regulation. [provided by RefSeq, Dec 2014]
CNOT6L	chr4	77713387	77819615	-	ENSG00000138767.12	protein_coding	CCR4b	4q21.1	CCR4-NOT transcription complex subunit 6 like	Ubiquitous expression in lymph node (RPKM 12.1), spleen (RPKM 8.9) and 25 other tissues
CNOT8	chr5	154857553	154876793	+	ENSG00000155508.13	protein_coding	CAF1|CALIF|Caf1b|POP2|hCAF1	5q33.2	CCR4-NOT transcription complex subunit 8	Enables poly(A)-specific ribonuclease activity. Involved in exonucleolytic catabolism of deadenylated mRNA and positive regulation of cell population proliferation. Located in nucleus. Part of CCR4-NOT complex. [provided by Alliance of Genome Resources, Apr 2022]
CNOT9	chr2	218568580	218597080	+	ENSG00000144580.13	protein_coding	CAF40|CT129|RCD-1|RCD1|RQCD1	2q35	CCR4-NOT transcription complex subunit 9	This gene encodes a member of the highly conserved RCD1 protein family. The encoded protein is a transcriptional cofactor and a core protein of the CCR4-NOT complex. It may be involved in signal transduction as well as retinoic acid-regulated cell differentiation and development. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2012]
CNP	chr17	41966741	41977731	+	ENSG00000173786.16	protein_coding	CNP1|HLD20	17q21.2	2',3'-cyclic nucleotide 3' phosphodiesterase	Note: CNP (Gene ID: 1267) and NPPC (Gene ID: 4880) share the CNP symbol/alias in common. CNP is a widely used alternative name for C-type natriuretic peptide (NPPC), which can be confused with the official symbol for 2,3-cyclic-nucleotide 3-phosphodiesterase (CNP). [06 Jul 2018]
CNPPD1	chr2	219171897	219178106	-	ENSG00000115649.15	protein_coding	C2orf24|CGI-57	2q35	cyclin Pas1/PHO80 domain containing 1	Ubiquitous expression in kidney (RPKM 36.9), adrenal (RPKM 24.4) and 25 other tissues
CNPY2	chr12	56309842	56316336	-	ENSG00000257727.5	protein_coding	HP10390|MSAP|TMEM4|ZSIG9	12q13.3	canopy FGF signaling regulator 2	Ubiquitous expression in prostate (RPKM 22.5), adrenal (RPKM 21.4) and 25 other tissues
CNPY3	chr6	42929192	42939287	+	ENSG00000137161.16	protein_coding	CAG4A|DEE60|EIEE60|ERDA5|PRAT4A|TNRC5	6p21.1	canopy FGF signaling regulator 3	This gene encodes a protein that binds members of the toll-like receptor protein family and functions as a chaperone to aid in folding and export of these proteins. Alternative splicing results in multiple transcript variants. Naturally occuring readthrough transcription occurs between this locus and the downstream GNMT (glycine N-methyltransferase) gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]
CNPY4	chr7	100119613	100125511	+	ENSG00000166997.7	protein_coding	PRAT4B	7q22.1	canopy FGF signaling regulator 4	Ubiquitous expression in endometrium (RPKM 13.2), ovary (RPKM 11.6) and 24 other tissues
CNR1	chr6	88139864	88166359	-	ENSG00000118432.12	protein_coding	CANN6|CB-R|CB1|CB1A|CB1K5|CB1R|CNR	6q15	cannabinoid receptor 1	This gene encodes one of two cannabinoid receptors. The cannabinoids, principally delta-9-tetrahydrocannabinol and synthetic analogs, are psychoactive ingredients of marijuana. The cannabinoid receptors are members of the guanine-nucleotide-binding protein (G-protein) coupled receptor family, which inhibit adenylate cyclase activity in a dose-dependent, stereoselective and pertussis toxin-sensitive manner. The two receptors have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. Multiple transcript variants encoding two different protein isoforms have been described for this gene. [provided by RefSeq, May 2009]
CNR2	chr1	23870526	23913362	-	ENSG00000188822.7	protein_coding	CB-2|CB2|CX5	1p36.11	cannabinoid receptor 2	The cannabinoid delta-9-tetrahydrocannabinol is the principal psychoactive ingredient of marijuana. The proteins encoded by this gene and the cannabinoid receptor 1 (brain) (CNR1) gene have the characteristics of a guanine nucleotide-binding protein (G-protein)-coupled receptor for cannabinoids. They inhibit adenylate cyclase activity in a dose-dependent, stereoselective, and pertussis toxin-sensitive manner. These proteins have been found to be involved in the cannabinoid-induced CNS effects (including alterations in mood and cognition) experienced by users of marijuana. The cannabinoid receptors are members of family 1 of the G-protein-coupled receptors. [provided by RefSeq, Jul 2008]
CNRIP1	chr2	68284171	68320051	-	ENSG00000119865.8	protein_coding	C2orf32|CRIP-1|CRIP1	2p14	cannabinoid receptor interacting protein 1	This gene encodes a protein that interacts with the C-terminal tail of cannabinoid receptor 1. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]
CNST	chr1	246566444	246668584	+	ENSG00000162852.13	protein_coding	C1orf71|PPP1R64	1q44	consortin, connexin sorting protein	Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. Consortin (CNST) is an integral membrane protein that acts as a binding partner of connexins, the building blocks of gap junctions, and acts as a trans-Golgi network (TGN) receptor involved in connexin targeting to the plasma membrane and recycling from the cell surface (del Castillo et al., 2010 [PubMed 19864490]).[supplied by OMIM, Jun 2010]
CNTD1	chr17	42798792	42811587	+	ENSG00000176563.9	protein_coding	CNTD|COSA1	17q21.2-q21.31	cyclin N-terminal domain containing 1	Ubiquitous expression in testis (RPKM 15.0), duodenum (RPKM 8.9) and 25 other tissues
CNTFR	chr9	34551432	34590140	-	ENSG00000122756.14	protein_coding	-	9p13.3	ciliary neurotrophic factor receptor	Biased expression in fat (RPKM 23.5), brain (RPKM 9.3) and 10 other tissues
CNTLN	chr9	17134982	17503923	+	ENSG00000044459.14	protein_coding	C9orf101|C9orf39|bA340N12.1	9p22.2	centlein	Ubiquitous expression in ovary (RPKM 1.5), testis (RPKM 1.4) and 24 other tissues
CNTN1	chr12	40692442	41072418	+	ENSG00000018236.14	protein_coding	F3|GP135|MYPCN	12q12	contactin 1	The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
CNTN2	chr1	205042937	205078284	+	ENSG00000184144.11	protein_coding	AXT|FAME5|TAG-1|TAX|TAX1	1q32.1	contactin 2	This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]
CNTN3	chr3	74262568	74521140	-	ENSG00000113805.8	protein_coding	BIG-1|PANG|PCS	3p12.3	contactin 3	Broad expression in brain (RPKM 2.7), prostate (RPKM 1.8) and 18 other tissues
CNTN4	chr3	2098813	3057956	+	ENSG00000144619.14	protein_coding	AXCAM|BIG-2	3p26.3-p26.2	contactin 4	This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
CNTNAP1	chr17	42682613	42699814	+	ENSG00000108797.11	protein_coding	CASPR|CHN3|CNTNAP|NRXN4|P190	17q21.2	contactin associated protein 1	The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for contactin-associated protein, includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009]
CNTNAP4	chr16	76277278	76559238	+	ENSG00000152910.18	protein_coding	CASPR4	16q23.1	contactin associated protein family member 4	This gene encodes a member of the neurexin protein family. Members of this family function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. This protein may also play a role in proper neurotransmission in the dopaminergic and GABAergic systems and mutations in this gene may be associated with certain psychiatric illnesses. A polymorphism in an intron of this gene may be associated with longevity. [provided by RefSeq, Apr 2016]
CNTRL	chr9	121074863	121177610	+	ENSG00000119397.16	protein_coding	CEP1|CEP110|FAN|bA165P4.1	9q33.2	centriolin	This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008]
CNTROB	chr17	7932101	7949918	+	ENSG00000170037.13	protein_coding	LIP8|PP1221	17p13.1	centrobin, centriole duplication and spindle assembly protein	This gene encodes a centrosomal protein that interacts with BRCA2, and is required for centriole duplication and cytokinesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
COA1	chr7	43608456	43729717	-	ENSG00000106603.18	protein_coding	C7orf44|MITRAC15	7p13	cytochrome c oxidase assembly factor 1	Ubiquitous expression in lymph node (RPKM 6.8), appendix (RPKM 4.6) and 25 other tissues
COA3	chr17	42795147	42798704	-	ENSG00000183978.7	protein_coding	CCDC56|COX25|HSPC009|MC4DN14|MITRAC12	17q21.2	cytochrome c oxidase assembly factor 3	This gene encodes a member of the cytochrome c oxidase assembly factor family. Studies of a related gene in fly suggest that the encoded protein is localized to mitochondria and is essential for cytochrome c oxidase function. [provided by RefSeq, Nov 2012]
COA4	chr11	73872667	73876988	-	ENSG00000181924.6	protein_coding	CHCHD8|CMC3|E2IG2	11q13.4	cytochrome c oxidase assembly factor 4 homolog	Ubiquitous expression in adrenal (RPKM 9.0), thyroid (RPKM 7.6) and 25 other tissues
COA5	chr2	98599310	98608515	-	ENSG00000183513.8	protein_coding	6330578E17Rik|C2orf64|CEMCOX3|MC4DN9|Pet191	2q11.2	cytochrome c oxidase assembly factor 5	This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]
COA6	chr1	234373456	234384049	+	ENSG00000168275.14	protein_coding	C1orf31|CEMCOX4|MC4DN13	1q42.2	cytochrome c oxidase assembly factor 6	This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be associated with fatal infantile cardiomyopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
COA7	chr1	52684451	52698366	-	ENSG00000162377.5	protein_coding	C1orf163|RESA1|SCAN3|SELRC1	1p32.3	cytochrome c oxidase assembly factor 7	Ubiquitous expression in brain (RPKM 6.1), colon (RPKM 6.0) and 25 other tissues
COA8	chr14	 103562960	103590899	+	ENSG00000256053	protein-coding	APOP|APOP1|APOPT1|C14orf153|MC4DN17	14q32.33	cytochrome c oxidase assembly factor 8	This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
COASY	chr17	42561467	42566277	+	ENSG00000068120.14	protein_coding	DPCK|NBIA6|NBP|PCH12|PPAT|UKR1|pOV-2	17q21.2	Coenzyme A synthase	Coenzyme A (CoA) functions as a carrier of acetyl and acyl groups in cells and thus plays an important role in numerous synthetic and degradative metabolic pathways in all organisms. In eukaryotes, CoA and its derivatives are also involved in membrane trafficking and signal transduction. This gene encodes the bifunctional protein coenzyme A synthase (CoAsy) which carries out the last two steps in the biosynthesis of CoA from pantothenic acid (vitamin B5). The phosphopantetheine adenylyltransferase domain of this bifunctional protein catalyzes the conversion of 4-phosphopantetheine into dephospho-coenzyme A (dpCoA) while its dephospho-CoA kinase domain completes the final step by phosphorylating dpCoA to form CoA. Mutations in this gene are associated with neurodegeneration with brain iron accumulation (NBIA). Alternative splicing results in multiple isoforms. [provided by RefSeq, Apr 2014]
COBLL1	chr2	164653624	164843679	-	ENSG00000082438.15	protein_coding	COBLR1	2q24.3	cordon-bleu WH2 repeat protein like 1	Broad expression in kidney (RPKM 18.9), adrenal (RPKM 17.7) and 23 other tissues
COG1	chr17	73192632	73208507	+	ENSG00000166685.11	protein_coding	CDG2G|LDLB	17q25.1	component of oligomeric golgi complex 1	The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]
COG2	chr1	230642489	230693982	+	ENSG00000135775.13	protein_coding	CDG2Q|LDLC	1q42.2	component of oligomeric golgi complex 2	This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi complex. The encoded protein specifically interacts with the USO1 vesicle docking protein and may be necessary for normal Golgi ribbon formation and trafficking of Golgi enzymes. Mutations of this gene are associated with abnormal glycosylation within the Golgi apparatus. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]
COG4	chr16	70480568	70523565	-	ENSG00000103051.18	protein_coding	CDG2J|COD1|SWILS	16q22.1	component of oligomeric golgi complex 4	The protein encoded by this gene is a component of an oligomeric protein complex involved in the structure and function of the Golgi apparatus. Defects in this gene may be a cause of congenital disorder of glycosylation type IIj. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]
COG5	chr7	107201555	107564514	-	ENSG00000164597.13	protein_coding	CDG2I|GOLTC1|GTC90	7q22.3	component of oligomeric golgi complex 5	The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]
COG6	chr13	39655627	39791665	+	ENSG00000133103.16	protein_coding	CDG2L|COD2|SHNS	13q14.11	component of oligomeric golgi complex 6	This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]
COG7	chr16	23388493	23453180	-	ENSG00000168434.12	protein_coding	CDG2E	16p12.2	component of oligomeric golgi complex 7	The protein encoded by this gene resides in the golgi, and constitutes one of the 8 subunits of the conserved oligomeric Golgi (COG) complex, which is required for normal golgi morphology and localization. Mutations in this gene are associated with the congenital disorder of glycosylation type IIe.[provided by RefSeq, May 2010]
COG8	chr16	69320140	69339583	-	ENSG00000213380.14	protein_coding	CDG2H|DOR1	16q22.1	component of oligomeric golgi complex 8	This gene encodes a protein that is a component of the conserved oligomeric Golgi (COG) complex, a multiprotein complex that plays a structural role in the Golgi apparatus, and is involved in intracellular membrane trafficking and glycoprotein modification. Mutations in this gene cause congenital disorder of glycosylation, type IIh, a disease that is characterized by under-glycosylated serum proteins, and whose symptoms include severe psychomotor retardation, failure to thrive, seizures, and dairy and wheat product intolerance. [provided by RefSeq, Jul 2008]
COIL	chr17	56938187	56961054	-	ENSG00000121058.4	protein_coding	CLN80|p80-coilin	17q22	coilin	The protein encoded by this gene is an integral component of Cajal bodies (also called coiled bodies). Cajal bodies are nuclear suborganelles of varying number and composition that are involved in the post-transcriptional modification of small nuclear and small nucleolar RNAs. The N-terminus of the coilin protein directs its self-oligomerization while the C-terminus influences the number of nuclear bodies assembled per cell. Differential methylation and phosphorylation of coilin likely influences its localization among nuclear bodies and the composition and assembly of Cajal bodies. This gene has pseudogenes on chromosome 4 and chromosome 14. [provided by RefSeq, Jul 2008]
COL10A1	chr6	116118923	116158747	-	ENSG00000123500.9	protein_coding	-	6q22.1	collagen type X alpha 1 chain	Low expression observed in reference dataset
COL11A1	chr1	102876467	103108496	-	ENSG00000060718.20	protein_coding	CO11A1|COLL6|DFNA37|STL2	1p21.1	collagen type XI alpha 1 chain	This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
COL11A2	chr6	33162681	33192499	-	ENSG00000204248.10	protein_coding	DFNA13|DFNB53|FBCG2|HKE5|OSMEDA|OSMEDB|PARP|STL3	6p21.32	collagen type XI alpha 2 chain	This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009]
COL12A1	chr6	75084326	75206051	-	ENSG00000111799.20	protein_coding	BA209D8.1|BTHLM2|COL12A1L|DJ234P15.1|EDSMYP|UCMD2	6q13-q14.1	collagen type XII alpha 1 chain	This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
COL13A1	chr10	69801931	69964275	+	ENSG00000197467.13	protein_coding	CMS19|COLXIIIA1	10q22.1	collagen type XIII alpha 1 chain	This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The transcripts for this gene undergo complex and extensive splicing involving at least eight exons. Like other collagens, collagen XIII is a trimer; it is not known whether this trimer is composed of one or more than one alpha chain isomer. A number of alternatively spliced transcript variants have been described, but the full length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]
COL14A1	chr8	120059780	120372036	+	ENSG00000187955.11	protein_coding	UND	8q24.12	collagen type XIV alpha 1 chain	This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013]
COL15A1	chr9	98943179	99070792	+	ENSG00000204291.10	protein_coding	-	9q22.33	collagen type XV alpha 1 chain	Broad expression in placenta (RPKM 113.8), fat (RPKM 52.0) and 17 other tissues
COL16A1	chr1	31652247	31704319	-	ENSG00000084636.17	protein_coding	447AA|FP1572	1p35.2	collagen type XVI alpha 1 chain	This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [provided by RefSeq, Jul 2008]
COL17A1	chr10	104031286	104086002	-	ENSG00000065618.18	protein_coding	BA16H23.2|BP180|BPA-2|BPAG2|ERED|LAD-1	10q25.1	collagen type XVII alpha 1 chain	This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]
COL18A1	chr21	45405137	45513720	+	ENSG00000182871.14	protein_coding	GLCC|KNO|KNO1|KS	21q22.3	collagen type XVIII alpha 1 chain	This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
COL18A1-AS1	chr21	45419716	45425070	-	ENSG00000183535.9	antisense	C21orf123|NCRNA00175|PRED80	21q22.3	COL18A1 antisense RNA 1	Restricted expression toward kidney (RPKM 1.7)
COL19A1	chr6	69866571	70209976	+	ENSG00000082293.12	protein_coding	COL9A1L|D6S228E	6q13	collagen type XIX alpha 1 chain	This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3 UTR which has not been completely sequenced. [provided by RefSeq, Jul 2008]
COL1A1	chr17	50183289	50201632	-	ENSG00000108821.13	protein_coding	CAFYD|EDSARTH1|EDSC|OI1|OI2|OI3|OI4	17q21.33	collagen type I alpha 1 chain	This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
COL21A1	chr6	56056590	56394094	-	ENSG00000124749.16	protein_coding	COLA1L|FP633	6p12.1|6p12.3-p11.2	collagen type XXI alpha 1 chain	This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containing type I collagen and maintains the integrity of the extracellular matrix. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
COL23A1	chr5	178237618	178590555	-	ENSG00000050767.15	protein_coding	-	5q35.3	collagen type XXIII alpha 1 chain	Biased expression in thyroid (RPKM 9.3), heart (RPKM 2.2) and 10 other tissues
COL24A1	chr1	85729233	86156943	-	ENSG00000171502.14	protein_coding	-	1p22.3	collagen type XXIV alpha 1 chain	Low expression observed in reference dataset
COL26A1	chr7	101362820	101559024	+	ENSG00000160963.13	protein_coding	EMI6|EMID2|EMU2|SH2B	7q22.1	collagen type XXVI alpha 1 chain	This gene encodes a protein containing an emilin domain and two collagen stretches. This gene may be associated with aspirin-intolerant asthma. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
COL27A1	chr9	114155560	114312511	+	ENSG00000196739.14	protein_coding	STLS	9q32	collagen type XXVII alpha 1 chain	This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprotein. It includes an N-terminal signal peptide, which is followed by an N-terminal propetide, mature peptide and a C-terminal propeptide. The N-terminal propeptide contains thrombospondin N-terminal-like and laminin G-like domains. The mature peptide is a major triple-helical region. The C-terminal propeptide, also known as COLFI domain, plays crucial roles in tissue growth and repair. Mutations in this gene cause Steel syndrome. Alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Sep 2014]
COL28A1	chr7	7356203	7535853	-	ENSG00000215018.9	protein_coding	COL28	7p21.3	collagen type XXVIII alpha 1 chain	COL28A1 belongs to a class of collagens containing von Willebrand factor (VWF; MIM 613160) type A (VWFA) domains (Veit et al., 2006 [PubMed 16330543]).[supplied by OMIM, Nov 2010]
COL2A1	chr12	47972965	48004486	-	ENSG00000139219.17	protein_coding	ANFH|AOM|COL11A3|SEDC|STL1	12q13.11	collagen type II alpha 1 chain	This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]
COL3A1	chr2	188974320	189012746	+	ENSG00000168542.14	protein_coding	EDS4A|EDSVASC|PMGEDSV	2q32.2	collagen type III alpha 1 chain	This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
COL4A1	chr13	110148963	110307149	-	ENSG00000187498.14	protein_coding	BSVD|BSVD1|COL4A1s|PADMAL|RATOR	13q34	collagen type IV alpha 1 chain	This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
COL4A2	chr13	110305812	110513027	+	ENSG00000134871.17	protein_coding	BSVD2|ICH|POREN2	13q34	collagen type IV alpha 2 chain	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]
COL4A3	chr2	227164565	227314792	+	ENSG00000169031.18	protein_coding	ATS2|ATS3	2q36.3	collagen type IV alpha 3 chain	Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010]
COL4A4	chr2	227002711	227164113	-	ENSG00000081052.11	protein_coding	ATS2|BFH|CA44	2q36.3	collagen type IV alpha 4 chain	This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3 UTR. [provided by RefSeq, Jul 2008]
COL5A1	chr9	134641774	134844843	+	ENSG00000130635.15	protein_coding	EDSC|EDSCL1|FMDMF	9q34.3	collagen type V alpha 1 chain	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
COL5A2	chr2	189031896	189179879	-	ENSG00000204262.11	protein_coding	EDSC|EDSCL2	2q32.2	collagen type V alpha 2 chain	This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]
COL5A3	chr19	9959561	10010471	-	ENSG00000080573.6	protein_coding	-	19p13.2	collagen type V alpha 3 chain	Broad expression in placenta (RPKM 20.1), fat (RPKM 19.6) and 20 other tissues
COL6A1	chr21	45981737	46005050	+	ENSG00000142156.14	protein_coding	BTHLM1|OPLL|UCHMD1	21q22.3	collagen type VI alpha 1 chain	The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]
COL6A2	chr21	46098097	46132849	+	ENSG00000142173.14	protein_coding	BTHLM1|PP3610|UCMD1	21q22.3	collagen type VI alpha 2 chain	This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
COL6A6	chr3	130560334	130678155	+	ENSG00000206384.10	protein_coding	-	3q22.1	collagen type VI alpha 6 chain	Biased expression in lung (RPKM 3.3), fat (RPKM 0.9) and 7 other tissues
COL7A1	chr3	48564073	48595267	-	ENSG00000114270.17	protein_coding	EBD1|EBDCT|EBR1|NDNC8	3p21.31	collagen type VII alpha 1 chain	This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]
COL8A1	chr3	99638475	99799226	+	ENSG00000144810.15	protein_coding	C3orf7	3q12.1	collagen type VIII alpha 1 chain	This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]
COL8A2	chr1	36095236	36125220	-	ENSG00000171812.12	protein_coding	FECD|FECD1|PPCD|PPCD2	1p34.3	collagen type VIII alpha 2 chain	This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
COL9A2	chr1	40300487	40317816	-	ENSG00000049089.13	protein_coding	DJ39G22.4|EDM2|MED|STL5	1p34.2	collagen type IX alpha 2 chain	This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]
COL9A3	chr20	62816244	62841159	+	ENSG00000092758.15	protein_coding	DJ885L7.4.1|EDM3|IDD|MED	20q13.33	collagen type IX alpha 3 chain	This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. Mutations in this gene are associated with multiple epiphyseal dysplasia type 3. [provided by RefSeq, Jan 2010]
COLCA1	chr11	111290787	111305045	-	ENSG00000196167.9	antisense	C11orf92|CASC12|LOH11CR1F	11q23.1	colorectal cancer associated 1	This gene encodes a transmembrane protein that localizes to granular structures, including crystalloid eosinophilic granules and other granular organelles. This gene, along with an overlapping opposite strand gene, has been implicated as a susceptibility locus for colorectal cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
COLCA2	chr11	111298555	111308735	+	ENSG00000214290.8	protein_coding	C11orf93|CASC13|LOH11CR1G	11q23.1	colorectal cancer associated 2	Broad expression in stomach (RPKM 2.9), duodenum (RPKM 2.1) and 22 other tissues
COLEC10	chr8	118995452	119106582	+	ENSG00000184374.2	protein_coding	3MC3|CL-10|CL-34|CLL1	8q24.12	collectin subfamily member 10	This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. The other members of this family are secreted proteins and bind to carbohydrate antigens on microorganisms facilitating their recognition and removal. This gene product is a cytosolic protein, a characteristic that suggests that it may have different biological functions than other C-lectins. [provided by RefSeq, Jul 2008]
COLEC11	chr2	3594832	3644644	+	ENSG00000118004.17	protein_coding	3MC2|CL-11|CL-K1-I|CL-K1-II|CL-K1-IIa|CL-K1-IIb|CLK1	2p25.3	collectin subfamily member 11	This gene encodes a member of the collectin family of C-type lectins that possess collagen-like sequences and carbohydrate recognition domains. Collectins are secreted proteins that play important roles in the innate immune system by binding to carbohydrate antigens on microorganisms, facilitating their recognition and removal. The encoded protein binds to multiple sugars with a preference for fucose and mannose. Mutations in this gene are a cause of 3MC syndrome-2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
COLEC12	chr18	316740	500722	-	ENSG00000158270.11	protein_coding	CLP1|NSR2|SCARA4|SRCL	18p11.32	collectin subfamily member 12	This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor that displays several functions associated with host defense. It can bind to carbohydrate antigens on microorganisms, facilitating their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively modified low density lipoprotein by vascular endothelial cells. [provided by RefSeq, May 2018]
COLGALT1	chr19	17555594	17583162	+	ENSG00000130309.10	protein_coding	BSVD3|ColGalT 1|GLT25D1	19p13.11	collagen beta(1-O)galactosyltransferase 1	The protein encoded by this gene is one of two enzymes that transfers galactose moieties to hydroxylysine residues of collagen and mannose binding lectin. This gene is constitutively expressed and encodes a soluble protein that localizes to the endoplasmic reticulum. [provided by RefSeq, Dec 2015]
COLGALT2	chr1	183929854	184037729	-	ENSG00000198756.10	protein_coding	C1orf17|ColGalT 2|GLT25D2	1q25.3	collagen beta(1-O)galactosyltransferase 2	Biased expression in brain (RPKM 11.8), adrenal (RPKM 2.5) and 7 other tissues
COLQ	chr3	15450133	15521751	-	ENSG00000206561.12	protein_coding	CMS5|EAD	3p25.1	collagen like tail subunit of asymmetric acetylcholinesterase	This gene encodes the subunit of a collagen-like molecule associated with acetylcholinesterase in skeletal muscle. Each molecule is composed of three identical subunits. Each subunit contains a proline-rich attachment domain (PRAD) that binds an acetylcholinesterase tetramer to anchor the catalytic subunit of the enzyme to the basal lamina. Mutations in this gene are associated with endplate acetylcholinesterase deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
COMMD1	chr2	61888724	62147247	+	ENSG00000173163.10	protein_coding	C2orf5|MURR1	2p15	copper metabolism domain containing 1	COMMD1 is a regulator of copper homeostasis, sodium uptake, and NF-kappa-B (see MIM 164011) signaling (de Bie et al., 2005 [PubMed 16267171]).[supplied by OMIM, Sep 2009]
COMMD10	chr5	116084991	116412762	+	ENSG00000145781.8	protein_coding	PTD002	5q23.1	COMM domain containing 10	Ubiquitous expression in thyroid (RPKM 1.4), adrenal (RPKM 1.3) and 25 other tissues
COMMD3	chr10	22315974	22320308	+	ENSG00000148444.15	protein_coding	BUP|C10orf8	10p12.2	COMM domain containing 3	Ubiquitous expression in heart (RPKM 26.0), appendix (RPKM 25.1) and 25 other tissues
COMMD4	chr15	75335891	75343224	+	ENSG00000140365.15	protein_coding	-	15q24.2	COMM domain containing 4	-
COMMD5	chr8	144841042	144853736	-	ENSG00000170619.9	protein_coding	HCARG|HT002	8q24.3	COMM domain containing 5	Ubiquitous expression in bone marrow (RPKM 4.8), spleen (RPKM 4.2) and 25 other tissues
COMMD6	chr13	75525219	75549439	-	ENSG00000188243.12	protein_coding	Acrg	13q22.2	COMM domain containing 6	COMMD6 belongs to a family of NF-kappa-B (see RELA; MIM 164014)-inhibiting proteins characterized by the presence of a COMM domain (see COMMD1; MIM 607238) (de Bie et al., 2006 [PubMed 16573520]).[supplied by OMIM, Mar 2009]
COMMD7	chr20	32702691	32743997	-	ENSG00000149600.11	protein_coding	C20orf92|dJ1085F17.3	20q11.21	COMM domain containing 7	Ubiquitous expression in thyroid (RPKM 17.9), placenta (RPKM 13.5) and 25 other tissues
COMMD8	chr4	47450796	47463719	-	ENSG00000169019.10	protein_coding	-	4p12	COMM domain containing 8	Ubiquitous expression in kidney (RPKM 8.5), testis (RPKM 8.1) and 25 other tissues
COMP	chr19	18782773	18791314	-	ENSG00000105664.10	protein_coding	CTS2|EDM1|EPD1|MED|PSACH|THBS5|TSP5	19p13.11	cartilage oligomeric matrix protein	The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Contraction or expansion of a 5 aa aspartate repeat and other mutations can cause pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016]
COMT	chr22	19941607	19969975	+	ENSG00000093010.13	protein_coding	HEL-S-98n	22q11.21	catechol-O-methyltransferase	Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-methylation results in one of the major degradative pathways of the catecholamine transmitters. In addition to its role in the metabolism of endogenous substances, COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. COMT is found in two forms in tissues, a soluble form (S-COMT) and a membrane-bound form (MB-COMT). The differences between S-COMT and MB-COMT reside within the N-termini. Several transcript variants are formed through the use of alternative translation initiation sites and promoters. [provided by RefSeq, Sep 2008]
COMTD1	chr10	75233969	75236030	-	ENSG00000165644.10	protein_coding	-	10q22.2	catechol-O-methyltransferase domain containing 1	-
COP1	chr1	 175944831	176207286	-	ENSG00000143207	protein-coding	CFAP78|FAP78|RFWD2|RNF200	1q25.1-q25.2	COP1 E3 ubiquitin ligase	Ubiquitous expression in testis (RPKM 5.8), colon (RPKM 4.2) and 25 other tissues
COPA	chr1	160289273	160343400	-	ENSG00000122218.14	protein_coding	AILJK|HEP-COP|alpha-COP	1q23.2	COPI coat complex subunit alpha	In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been identified, and they represent subunits of a complex known as coatomer. The subunits are designated alpha-COP, beta-COP, beta-prime-COP, gamma-COP, delta-COP, epsilon-COP, and zeta-COP. The alpha-COP, encoded by COPA, shares high sequence similarity with RET1P, the alpha subunit of the coatomer complex in yeast. Also, the N-terminal 25 amino acids of alpha-COP encode the bioactive peptide, xenin, which stimulates exocrine pancreatic secretion and may act as a gastrointestinal hormone. Alternative splicing results in multiple splice forms encoding distinct isoforms. [provided by RefSeq, Jul 2008]
COPB1	chr11	14443440	14500027	-	ENSG00000129083.12	protein_coding	BARMACS|COPB	11p15.2	COPI coat complex subunit beta 1	This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]
COPB2	chr3	139355600	139389732	-	ENSG00000184432.9	protein_coding	MCPH19|beta'-COP	3q23	COPI coat complex subunit beta 2	The Golgi coatomer complex (see MIM 601924) constitutes the coat of nonclathrin-coated vesicles and is essential for Golgi budding and vesicular trafficking. It consists of 7 protein subunits, including COPB2.[supplied by OMIM, Jul 2002]
COPE	chr19	18899514	18919397	-	ENSG00000105669.13	protein_coding	epsilon-COP	19p13.11	COPI coat complex subunit epsilon	The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles. It is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. Coatomer complex consists of at least the alpha, beta, beta, gamma, delta, epsilon and zeta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
COPG1	chr3	129249606	129277773	+	ENSG00000181789.14	protein_coding	COPG	3q21.3	COPI coat complex subunit gamma 1	Ubiquitous expression in thyroid (RPKM 47.3), prostate (RPKM 41.1) and 25 other tissues
COPG2	chr7	130506238	130668748	-	ENSG00000158623.14	protein_coding	2-COP|gamma-2-COP	7q32.2	COPI coat complex subunit gamma 2	Ubiquitous expression in testis (RPKM 19.0), ovary (RPKM 19.0) and 25 other tissues
COPRS	chr17	31851864	31859337	-	ENSG00000172301.10	protein_coding	C17orf79|COPR5|HSA272196|TTP1	17q11.2	coordinator of PRMT5 and differentiation stimulator	Broad expression in testis (RPKM 66.1), brain (RPKM 19.5) and 22 other tissues
COPS2	chr15	49106068	49155661	-	ENSG00000166200.14	protein_coding	ALIEN|CSN2|SGN2|TRIP15	15q21.1	COP9 signalosome subunit 2	Ubiquitous expression in bone marrow (RPKM 22.3), thyroid (RPKM 19.6) and 25 other tissues
COPS3	chr17	17246820	17281293	-	ENSG00000141030.12	protein_coding	CSN3|SGN3	17p11.2	COP9 signalosome subunit 3	The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
COPS4	chr4	83034447	83075818	+	ENSG00000138663.8	protein_coding	CSN4|SGN4	4q21.22	COP9 signalosome subunit 4	This gene encodes one of eight subunits composing COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
COPS5	chr8	67043079	67083783	-	ENSG00000121022.13	protein_coding	CSN5|JAB1|MOV-34|SGN5	8q13.1	COP9 signalosome subunit 5	The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein is reported to be involved in the degradation of  cyclin-dependent kinase inhibitor CDKN1B/p27Kip1. It is also known to be an coactivator that increases the specificity of JUN/AP1 transcription factors. [provided by RefSeq, Jul 2008]
COPS6	chr7	100088954	100092200	+	ENSG00000168090.9	protein_coding	CSN6|MOV34-34KD	7q22.1	COP9 signalosome subunit 6	The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein belongs to translation initiation factor 3 (eIF3) superfamily. It is involved in the regulation of cell cycle and likely to be a cellular cofactor for HIV-1 accessory gene product Vpr. [provided by RefSeq, Jul 2008]
COPS7A	chr12	6723741	6731875	+	ENSG00000111652.9	protein_coding	CSN7|CSN7A|SGN7a	12p13.31	COP9 signalosome subunit 7A	This gene encodes a component of the COP9 signalosome, an evolutionarily conserved multi-subunit protease that regulates the activity of the ubiquitin conjugation pathway. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Mar 2014]
COPS7B	chr2	231781671	231809254	+	ENSG00000144524.17	protein_coding	CSN7B|SGN7b	2q37.1	COP9 signalosome subunit 7B	Ubiquitous expression in testis (RPKM 9.9), lymph node (RPKM 6.4) and 25 other tissues
COPS8	chr2	237085312	237100466	+	ENSG00000198612.10	protein_coding	COP9|CSN8|SGN8	2q37.3	COP9 signalosome subunit 8	The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
COPZ1	chr12	54301202	54351849	+	ENSG00000111481.9	protein_coding	CGI-120|COPZ|HSPC181|zeta-COP|zeta1-COP	12q13.13	COPI coat complex subunit zeta 1	This gene encodes a subunit of the cytoplasmic coatamer protein complex, which is involved in autophagy and intracellular protein trafficking. The coatomer protein complex is comprised of seven subunits and functions as the coat protein of coat protein complex (COP)I-vesicles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
COPZ2	chr17	48026167	48038030	-	ENSG00000005243.9	protein_coding	zeta2-COP	17q21.32	COPI coat complex subunit zeta 2	This gene encodes a member of the adaptor complexes small subunit family. The encoded protein is a subunit of the coatomer protein complex, a seven-subunit complex that functions in the formation of COPI-type, non-clathrin-coated vesicles. COPI vesicles function in the retrograde Golgi-to-ER transport of dilysine-tagged proteins. [provided by RefSeq, Feb 2014]
COQ10A	chr12	56266858	56270966	+	ENSG00000135469.13	protein_coding	-	12q13.3	coenzyme Q10A	-
COQ10B	chr2	197453423	197475308	+	ENSG00000115520.8	protein_coding	-	2q33.1	coenzyme Q10B	-
COQ2	chr4	83261536	83284914	-	ENSG00000173085.13	protein_coding	CL640|COQ10D1|MSA1|PHB:PPT	4q21.23	coenzyme Q2, polyprenyltransferase	This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzyme, which is part of the coenzyme Q10 pathway, catalyzes the prenylation of parahydroxybenzoate with an all-trans polyprenyl group. Mutations in this gene cause coenzyme Q10 deficiency, a mitochondrial encephalomyopathy, and also COQ2 nephropathy, an inherited form of mitochondriopathy with primary renal involvement. [provided by RefSeq, Oct 2009]
COQ3	chr6	99369400	99394204	-	ENSG00000132423.11	protein_coding	DHHBMT|DHHBMTASE|UG0215E05|bA9819.1	6q16.2	coenzyme Q3, methyltransferase	Ubiquinone, also known as coenzyme Q, or Q, is a critical component of the electron transport pathways of both eukaryotes and prokaryotes (Jonassen and Clarke, 2000 [PubMed 10777520]). This lipid consists of a hydrophobic isoprenoid tail and a quinone head group. The tail varies in length depending on the organism, but its purpose is to anchor coenzyme Q to the membrane. The quinone head group is responsible for the activity of coenzyme Q in the respiratory chain. The S. cerevisiae COQ3 gene encodes an O-methyltransferase required for 2 steps in the biosynthetic pathway of coenzyme Q. This enzyme methylates an early coenzyme Q intermediate, 3,4-dihydroxy-5-polyprenylbenzoic acid, as well as the final intermediate in the pathway, converting demethyl-ubiquinone to coenzyme Q. The COQ3 gene product is also capable of methylating the distinct prokaryotic early intermediate 2-hydroxy-6-polyprenyl phenol.[supplied by OMIM, Mar 2008]
COQ4	chr9	128322536	128334072	+	ENSG00000167113.10	protein_coding	CGI-92|COQ10D7	9q34.11	coenzyme Q4	This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of the mitochondrial transport chain. This protein appears to play a structural role in stabilizing a complex that contains most of the coenzyme Q biosynthesis enzymes. Mutations in this gene are associated with mitochondrial disorders linked to coenzyme Q deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
COQ5	chr12	120503274	120534434	-	ENSG00000110871.14	protein_coding	COQ10D9	12q24.31	coenzyme Q5, methyltransferase	Ubiquitous expression in kidney (RPKM 15.5), liver (RPKM 13.7) and 25 other tissues
COQ6	chr14	73949926	73963670	+	ENSG00000119723.16	protein_coding	CGI-10|CGI10|COQ10D6	14q24.3	coenzyme Q6, monooxygenase	The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2012]
COQ7	chr16	19067599	19080095	+	ENSG00000167186.10	protein_coding	CAT5|CLK-1|CLK1|COQ10D8	16p12.3	coenzyme Q7, hydroxylase	The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]
COQ8A	chr1	226897536	226987545	+	ENSG00000163050.16	protein_coding	ADCK3|ARCA2|CABC1|COQ10D4|COQ8|SCAR9	1q42.13	coenzyme Q8A	This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
COQ8B	chr19	40691529	40718207	-	ENSG00000123815.11	protein_coding	ADCK4|NPHS9	19q13.2	coenzyme Q8B	This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
COQ9	chr16	57447425	57461275	+	ENSG00000088682.13	protein_coding	C16orf49|COQ10D5	16q21	coenzyme Q9	This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010]
CORO1A	chr16	30182827	30189076	+	ENSG00000102879.15	protein_coding	CLABP|CLIPINA|HCORO1|IMD8|TACO|p57	16p11.2	coronin 1A	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. A related pseudogene has been defined on chromosome 16. [provided by RefSeq, Sep 2010]
CORO1B	chr11	67435510	67443821	-	ENSG00000172725.13	protein_coding	CORONIN-2	11q13.2	coronin 1B	Members of the coronin family, such as CORO1B, are WD repeat-containing actin-binding proteins that regulate cell motility (Cai et al., 2005 [PubMed 16027158]).[supplied by OMIM, Mar 2008]
CORO1C	chr12	108645109	108731596	-	ENSG00000110880.10	protein_coding	HCRNN4	12q24.11	coronin 1C	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
CORO2A	chr9	98120975	98192640	-	ENSG00000106789.12	protein_coding	CLIPINB|IR10|WDR2	9q22.33	coronin 2A	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 5 WD repeats, and has a structural similarity with actin-binding proteins: the D. discoideum coronin and the human p57 protein, suggesting that this protein may also be an actin-binding protein that regulates cell motility. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
CORO2B	chr15	68578969	68727806	+	ENSG00000103647.12	protein_coding	CLIPINC	15q23	coronin 2B	Biased expression in brain (RPKM 22.9), ovary (RPKM 6.5) and 11 other tissues
CORO6	chr17	29614756	29622907	-	ENSG00000167549.18	protein_coding	-	17q11.2	coronin 6	-
CORO7	chr16	4354542	4425705	-	ENSG00000262246.5	protein_coding	0610011B16Rik|CRN7|POD1	16p13.3	coronin 7	This gene encodes a member of the coronin protein family. However, unlike other coronin proteins, it is not an actin-binding protein but rather functions as an F-actin regulator directing anterograde Golgi to endosome transport. The encoded protein has two tandem WD-40 domain repeats and localizes to the trans-Golgi network. The protein undergoes K33-linked polyubiquitination via an E3 ligase complex. It is thought to play an essential role in maintenance of Golgi apparatus morphology. Alternative splicing results in multiple transcripts variants; some of which form read-through transcripts with a neighboring gene. [provided by RefSeq, Dec 2016]
CORO7-PAM16	chr16	4340251	4420494	-	ENSG00000103426.12	protein_coding	CORO7|Coronin-7|Crn7	16p13.3	CORO7-PAM16 readthrough	This locus represents naturally occurring read-through transcription between the neighboring CORO7 (coronin 7) and PAM16 (presequence translocase-associated motor 16) genes on chromosome 16. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jan 2011]
CORT	chr1	10449719	10451902	+	ENSG00000241563.3	protein_coding	CST-14|CST-17|CST-29|SST2	1p36.22	cortistatin	This gene encodes a neuropeptide that is structurally similar to somatostatin. It binds to all known somatostatin receptors, and shares many pharmacological and functional properties with somatostatin, including the depression of neuronal activity. However, it also has many properties distinct from somatostatin, such as induction of slow-wave sleep, apparently by antagonism of the excitatory effects of acetylcholine on the cortex, reduction of locomotor activity, and activation of cation selective currents not responsive to somatostatin. The preproprotein undergoes further processing into multiple mature products. Read-through transcripts exist between this gene and the upstream APITD1 (apoptosis-inducing, TAF9-like domain 1) gene, as represented in GeneID:100526739. [provided by RefSeq, Nov 2010]
COTL1	chr16	84565594	84618077	-	ENSG00000103187.7	protein_coding	CLP	16q24.1	coactosin like F-actin binding protein 1	This gene encodes one of the numerous actin-binding proteins which regulate the actin cytoskeleton. This protein binds F-actin, and also interacts with 5-lipoxygenase, which is the first committed enzyme in leukotriene biosynthesis. Although this gene has been reported to map to chromosome 17 in the Smith-Magenis syndrome region, the best alignments for this gene are to chromosome 16. The Smith-Magenis syndrome region is the site of two related pseudogenes. [provided by RefSeq, Jul 2008]
COX10	chr17	14069496	14208677	+	ENSG00000006695.10	protein_coding	MC4DN3	17p12	cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10	Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]
COX10-DT	chr17	 14029292	14069458	-	ENSG00000236088	ncRNA	COX10-AS|COX10-AS1|COX10AS	17p12	COX10 divergent transcript	-
COX11	chr17	54951902	54968785	-	ENSG00000166260.10	protein_coding	COX11P	17q22	cytochrome c oxidase copper chaperone COX11	Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be a heme A biosynthetic enzyme involved in COX formation, according to the yeast mutant studies. However, the studies in Rhodobacter sphaeroides suggest that this gene is not required for heme A biosynthesis, but required for stable formation of the Cu(B) and magnesium centers of COX. This human protein is predicted to contain a transmembrane domain localized in the mitochondrial inner membrane. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene has been found on chromosome 6. [provided by RefSeq, Jun 2009]
COX14	chr12	50111979	50120457	+	ENSG00000178449.8	protein_coding	C12orf62|MC4DN10|PCAG1	12q13.12	cytochrome c oxidase assembly factor COX14	This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
COX15	chr10	99711844	99732100	-	ENSG00000014919.12	protein_coding	CEMCOX2|MC4DN6	10q24.2	cytochrome c oxidase assembly homolog COX15	Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3 region. [provided by RefSeq, Jul 2008]
COX16	chr14	70325081	70359731	-	ENSG00000133983.14	protein_coding	C14orf112|HSPC203|MC4DN22|hCOX16	14q24.2	cytochrome c oxidase assembly factor COX16	Ubiquitous expression in colon (RPKM 14.7), adrenal (RPKM 14.7) and 25 other tissues
COX17	chr3	119654513	119677454	-	ENSG00000138495.6	protein_coding	-	3q13.33	cytochrome c oxidase copper chaperone COX17	Ubiquitous expression in heart (RPKM 52.4), adrenal (RPKM 37.4) and 25 other tissues
COX17P1	chr13	46490930	46491121	+	ENSG00000205105.6	processed_pseudogene	COX17P	13q14.13	COX17 pseudogene 1	-
COX18	chr4	73052362	73069755	-	ENSG00000163626.16	protein_coding	COX18HS	4q13.3	cytochrome c oxidase assembly factor COX18	This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
COX19	chr7	898778	975599	-	ENSG00000240230.5	protein_coding	-	7p22.3	cytochrome c oxidase assembly factor COX19	Ubiquitous expression in skin (RPKM 2.7), duodenum (RPKM 2.6) and 25 other tissues
COX20	chr1	244835322	244845057	+	ENSG00000203667.9	protein_coding	FAM36A|MC4DN11	1q44	cytochrome c oxidase assembly factor COX20	This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
COX4I1	chr16	85798633	85807044	+	ENSG00000131143.8	protein_coding	COX IV-1|COX4|COX4-1|COXIV|COXIV-1|MC4DN16	16q24.1	cytochrome c oxidase subunit 4I1	Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial respiratory chain enzyme. It is located at the 3 of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. Pseudogenes related to this gene are located on chromosomes 13 and 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
COX4I2	chr20	31637888	31645006	+	ENSG00000131055.4	protein_coding	COX4|COX4-2|COX4B|COX4L2|COXIV-2|dJ857M17.2	20q11.21	cytochrome c oxidase subunit 4I2	Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008]
COX5A	chr15	74919791	74938168	-	ENSG00000178741.11	protein_coding	COX|COX-VA|MC4DN20|VA	15q24.2	cytochrome c oxidase subunit 5A	Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer of proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Va of the human mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. [provided by RefSeq, Jul 2008]
COX5B	chr2	97646040	97648383	+	ENSG00000135940.6	protein_coding	COXVB	2q11.2	cytochrome c oxidase subunit 5B	Cytochrome C oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Vb of the human mitochondrial respiratory chain enzyme. [provided by RefSeq, Jul 2008]
COX5BP6	chr13	100623875	100624429	-	ENSG00000237082.1	processed_pseudogene	COX5BL6	13q32.3	cytochrome c oxidase subunit 5B pseudogene 6	-
COX5BP7	chr22	39120293	39120566	-	ENSG00000226024.1	processed_pseudogene	COX5BL7	22q13.1	cytochrome c oxidase subunit 5B pseudogene 7	-
COX6A1	chr12	120438090	120440742	+	ENSG00000111775.2	protein_coding	CMTRID|COX6A|COX6AL	12q24.31|12q24.2	cytochrome c oxidase subunit 6A1	Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008]
COX6A1P2	chr6	37044860	37045189	+	ENSG00000226976.3	processed_pseudogene	-	6p21.2	cytochrome c oxidase subunit 6A1 pseudogene 2	-
COX6A2	chr16	31427731	31428428	-	ENSG00000156885.5	protein_coding	COX6AH|COXVIAH|MC4DN18	16p11.2	cytochrome c oxidase subunit 6A2	Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq, Jul 2008]
COX6B1	chr19	35648223	35658861	+	ENSG00000126267.8	protein_coding	COX6B|COXG|COXVIb1|MC4DN7	19q13.12	cytochrome c oxidase subunit 6B1	Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010]
COX6B1P3	chr22	40569286	40569895	+	ENSG00000172912.4	processed_pseudogene	COX6BP-3|COX6BP3	22q13.1	cytochrome c oxidase subunit 6B1 pseudogene 3	-
COX6B2	chr19	55349306	55354814	-	ENSG00000160471.12	protein_coding	COXVIB2|CT59	19q13.42	cytochrome c oxidase subunit 6B2	Restricted expression toward testis (RPKM 26.9)
COX6C	chr8	99873200	99894062	-	ENSG00000164919.10	protein_coding	-	8q22.2	cytochrome c oxidase subunit 6C	Ubiquitous expression in heart (RPKM 104.1), colon (RPKM 92.2) and 25 other tissues
COX6CP2	chr20	50479767	50479991	+	ENSG00000231715.1	processed_pseudogene	dJ894K16.1	20q13.13	cytochrome c oxidase subunit 6C pseudogene 2	-
COX7A1	chr19	36150922	36152869	-	ENSG00000161281.10	protein_coding	COX7A|COX7AH|COX7AM	19q13.12	cytochrome c oxidase subunit 7A1	Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (muscle isoform) of subunit VIIa and the polypeptide 1 is present only in muscle tissues. Other polypeptides of subunit VIIa are present in both muscle and nonmuscle tissues, and are encoded by different genes. [provided by RefSeq, Jul 2008]
COX7A2	chr6	75237675	75250323	-	ENSG00000112695.11	protein_coding	COX7AL|COX7AL1|COXVIIAL|COXVIIa-L|VIIAL	6q14.1	cytochrome c oxidase subunit 7A2	Cytochrome c oxidase, the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of three catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, while the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa, with this polypeptide being present in both muscle and non-muscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, which is present in all tissues. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4 and 14. [provided by RefSeq, Oct 2009]
COX7A2L	chr2	42333546	42425088	-	ENSG00000115944.14	protein_coding	COX7AR|COX7RP|EB1|SCAF1|SCAFI|SIG81	2p21	cytochrome c oxidase subunit 7A2 like	Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]
COX7A2P1	chr14	67652300	67652614	-	ENSG00000258626.2	processed_pseudogene	COX7A3P|COX7AP1	14q24.1	cytochrome c oxidase subunit 7A2 pseudogene 1	-
COX7B	chrX	77899438	77907373	+	ENSG00000131174.4	protein_coding	APLCC|LSDMCA2	Xq21.1	cytochrome c oxidase subunit 7B	Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22. [provided by RefSeq, Jun 2011]
COX7C	chr5	86617904	86620962	+	ENSG00000127184.12	protein_coding	-	5q14.3	cytochrome c oxidase subunit 7C	Ubiquitous expression in kidney (RPKM 507.5), heart (RPKM 430.4) and 25 other tissues
COX8A	chr11	63974607	63976543	+	ENSG00000176340.3	protein_coding	COX|COX8|COX8-2|COX8L|MC4DN15|VIII|VIII-L	11q13.1	cytochrome c oxidase subunit 8A	The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. [provided by RefSeq, Jul 2008]
COX8C	chr14	93347191	93348356	+	ENSG00000187581.2	protein_coding	COX8-3	14q32.12	cytochrome c oxidase subunit 8C	Restricted expression toward testis (RPKM 13.0)
CPA2	chr7	130266827	130289798	+	ENSG00000158516.11	protein_coding	-	7q32.2	carboxypeptidase A2	Restricted expression toward pancreas (RPKM 5496.0)
CPA3	chr3	148865256	148897196	+	ENSG00000163751.3	protein_coding	MC-CPA	3q24	carboxypeptidase A3	This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. The encoded preproprotein is proteolytically processed to generate a mature protease that is released by mast cells and may be involved in the degradation of endogenous proteins and the inactivation of venom-associated peptides. Expression of this gene may be elevated in human asthma patients. [provided by RefSeq, Nov 2015]
CPA4	chr7	130293134	130324180	+	ENSG00000128510.10	protein_coding	CPA3	7q32.2	carboxypeptidase A4	This gene is a member of the carboxypeptidase A/B subfamily, and it is located in a cluster with three other family members on chromosome 7. Carboxypeptidases are zinc-containing exopeptidases that catalyze the release of carboxy-terminal amino acids, and are synthesized as zymogens that are activated by proteolytic cleavage. This gene could be involved in the histone hyperacetylation pathway. It is imprinted and may be a strong candidate gene for prostate cancer aggressiveness. [provided by RefSeq, Jul 2008]
CPA5	chr7	130344816	130368730	+	ENSG00000158525.15	protein_coding	-	7q32.2	carboxypeptidase A5	Restricted expression toward testis (RPKM 7.8)
CPAMD8	chr19	16892947	17026815	-	ENSG00000160111.12	protein_coding	ASGD8|K-CAP|VIP	19p13.11	C3 and PZP like alpha-2-macroglobulin domain containing 8	This gene encodes a member of the protease inhibitor I39 (alpha-2-macroglobulin) family of proteins. These proteins are important in innate and acquired immunity. The encoded protein is membrane-associated and proteolytically processed to generate two chains. Mutations in this gene cause a form of anterior segment dysgenesis, a developmental disorder of the eye. [provided by RefSeq, May 2017]
CPD	chr17	30378905	30469989	+	ENSG00000108582.11	protein_coding	GP180	17q11.2	carboxypeptidase D	The metallocarboxypeptidase family of enzymes is divided into 2 subfamilies based on sequence similarities. The pancreatic carboxypeptidase-like and the regulatory B-type carboxypeptidase subfamilies. Carboxypeptidase D has been identified as a regulatory B-type carboxypeptidase. CPD is a homolog of duck gp180, a hepatitis B virus-binding protein. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Jul 2008]
CPE	chr4	165361194	165498320	+	ENSG00000109472.13	protein_coding	CPH|IDDHH	4q32.3	carboxypeptidase E	This gene encodes a member of the M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature peptidase. This peripheral membrane protein cleaves C-terminal amino acid residues and is involved in the biosynthesis of peptide hormones and neurotransmitters, including insulin. This protein may also function independently of its peptidase activity, as a neurotrophic factor that promotes neuronal survival, and as a sorting receptor that binds to regulated secretory pathway proteins, including prohormones. Mutations in this gene are implicated in type 2 diabetes. [provided by RefSeq, Nov 2015]
CPEB1	chr15	82543201	82648861	-	ENSG00000214575.9	protein_coding	CPE-BP1|CPEB|CPEB-1|h-CPEB|hCPEB-1	15q25.2	cytoplasmic polyadenylation element binding protein 1	This gene encodes a member of the cytoplasmic polyadenylation element binding protein family. This highly conserved protein binds to a specific RNA sequence, called the cytoplasmic polyadenylation element, found in the 3 untranslated region of some mRNAs. The encoded protein functions in both the cytoplasm and the nucleus. It is involved in the regulation of mRNA translation, as well as processing of the 3 untranslated region, and may play a role in cell proliferation and tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
CPEB1-AS1	chr15	82647770	82692820	+	ENSG00000259462.2	antisense	-	15q25.2	CPEB1 antisense RNA 1	-
CPEB2	chr4	15002674	15070153	+	ENSG00000137449.15	protein_coding	CPE-BP2|CPEB-2|hCPEB-2	4p15.32	cytoplasmic polyadenylation element binding protein 2	The protein encoded by this gene is highly similar to cytoplasmic polyadenylation element binding protein (CPEB), an mRNA-binding protein that regulates cytoplasmic polyadenylation of mRNA as a trans factor in oogenesis and spermatogenesis. Studies of the similar gene in mice suggested a possible role of this protein in transcriptionally inactive haploid spermatids. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
CPEB2-DT	chr4	 14909961	15002045	-	ENSG00000247624	ncRNA	CPEB2-AS1|DRAIR	4p15.33-p15.32	CPEB2 divergent transcript	Restricted expression toward testis (RPKM 1.1)
CPEB3	chr10	92046692	92291087	-	ENSG00000107864.14	protein_coding	-	10q23.32	cytoplasmic polyadenylation element binding protein 3	-
CPEB4	chr5	173888280	173961976	+	ENSG00000113742.12	protein_coding	CPE-BP4|hCPEB-4	5q35.2	cytoplasmic polyadenylation element binding protein 4	Ubiquitous expression in adrenal (RPKM 26.5), bone marrow (RPKM 18.8) and 25 other tissues
CPED1	chr7	120988677	121297444	+	ENSG00000106034.17	protein_coding	C7orf58	7q31.31	cadherin like and PC-esterase domain containing 1	Broad expression in fat (RPKM 27.4), ovary (RPKM 24.4) and 19 other tissues
CPHL1P	chr3	149229356	149291800	-	ENSG00000240216.7	transcribed_unitary_pseudogene	CPHL1	3q25.1	ceruloplasmin and hephaestin like 1, pseudogene	-
CPLANE1	chr5	 37075669	37249376	-	ENSG00000197603	protein-coding	C5orf42|Hug|JBTS17|OFD6	5p13.2	ciliogenesis and planar polarity effector 1	The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]
CPLANE2	chr1	 16231692	16237183	-	ENSG00000132881	protein-coding	C1orf89|RSG1	1p36.13	ciliogenesis and planar polarity effector 2	Ubiquitous expression in thyroid (RPKM 2.8), ovary (RPKM 1.9) and 25 other tissues
CPLX1	chr4	784957	826198	-	ENSG00000168993.14	protein_coding	CPX-I|CPX1|DEE63|EIEE63	4p16.3	complexin 1	Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis.  These proteins bind syntaxin, part of the SNAP receptor.  The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. [provided by RefSeq, Jul 2008]
CPLX3	chr15	74826547	74831802	+	ENSG00000213578.5	protein_coding	CPX-III|CPXIII|Nbla11589	15q24.1	complexin 3	Biased expression in prostate (RPKM 58.8), spleen (RPKM 33.7) and 3 other tissues
CPM	chr12	68842197	68971570	-	ENSG00000135678.11	protein_coding	-	12q15	carboxypeptidase M	Broad expression in fat (RPKM 56.0), lung (RPKM 21.3) and 19 other tissues
CPN1	chr10	100042193	100081877	-	ENSG00000120054.11	protein_coding	CPN|SCPN	10q24.2	carboxypeptidase N subunit 1	Carboxypeptidase N is a plasma metallo-protease that cleaves basic amino acids from the C terminal of peptides and proteins. The enzyme is important in the regulation of peptides like kinins and anaphylatoxins, and has also been known as kininase-1 and anaphylatoxin inactivator. This enzyme is a tetramer comprised of two identical regulatory subunits and two identical catalytic subunits; this gene encodes the catalytic subunit. Mutations in this gene can be associated with angioedema or chronic urticaria resulting from carboxypeptidase N deficiency. [provided by RefSeq, Jul 2008]
CPN2	chr3	194339765	194351328	-	ENSG00000178772.6	protein_coding	ACBP	3q29	carboxypeptidase N subunit 2	Restricted expression toward liver (RPKM 60.4)
CPNE1	chr20	35626031	35664956	-	ENSG00000214078.12	protein_coding	COPN1|CPN1	20q11.22	copine 1	Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a calcium-dependent protein that also contains two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. However, the encoded protein does not contain a predicted signal sequence or transmembrane domains. This protein has a broad tissue distribution and it may function in membrane trafficking. This gene and the gene for RNA binding motif protein 12 overlap at map location 20q11.21. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Aug 2008]
CPNE2	chr16	57092537	57148367	+	ENSG00000140848.16	protein_coding	COPN2|CPN2	16q13	copine 2	Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Sequence analysis identified multiple alternatively spliced transcript variants but their full-length natures could not be determined. [provided by RefSeq, Jul 2008]
CPNE3	chr8	86514427	86561498	+	ENSG00000085719.12	protein_coding	CPN3|PRO1071	8q21.3	copine 3	Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a protein which contains two type II C2 domains in the amino-terminus and an A domain-like sequence in the carboxy-terminus. The A domain mediates interactions between integrins and extracellular ligands. [provided by RefSeq, Aug 2008]
CPNE4	chr3	131533555	132285410	-	ENSG00000196353.11	protein_coding	COPN4|CPN4	3q22.1	copine 4	This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
CPNE5	chr6	36740775	36840002	-	ENSG00000124772.11	protein_coding	COPN5|CPN5	6p21.2	copine 5	Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. More variants may exist, but their full-length natures could not be determined. [provided by RefSeq, Sep 2015]
CPNE6	chr14	24070837	24078100	+	ENSG00000100884.9	protein_coding	-	14q11.2	copine 6	Biased expression in brain (RPKM 23.5), small intestine (RPKM 2.5) and 3 other tissues
CPNE7	chr16	89575768	89597246	+	ENSG00000178773.14	protein_coding	-	16q24.3	copine 7	Broad expression in brain (RPKM 2.3), stomach (RPKM 1.2) and 16 other tissues
CPNE8	chr12	38646822	38907430	-	ENSG00000139117.13	protein_coding	-	12q12	copine 8	Ubiquitous expression in spleen (RPKM 2.0), placenta (RPKM 2.0) and 24 other tissues
CPO	chr2	206939554	206969474	+	ENSG00000144410.4	protein_coding	-	2q33.3	carboxypeptidase O	Biased expression in small intestine (RPKM 9.1) and thyroid (RPKM 0.3)
CPOX	chr3	98521132	98593723	-	ENSG00000080819.6	protein_coding	COX|CPO|CPX|HARPO|HCP	3q11.2	coproporphyrinogen oxidase	The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]
CPPED1	chr16	12659799	12804017	-	ENSG00000103381.11	protein_coding	CSTP1	16p13.12	calcineurin like phosphoesterase domain containing 1	Ubiquitous expression in spleen (RPKM 8.6), kidney (RPKM 8.5) and 24 other tissues
CPQ	chr8	96645227	97149654	+	ENSG00000104324.15	protein_coding	LDP|PGCP	8q22.1	carboxypeptidase Q	This gene encodes a metallopeptidase that belongs to the peptidase M28 family. The encoded protein may catalyze the cleavage of dipeptides with unsubstituted terminals into amino acids. [provided by RefSeq, Jul 2013]
CPS1	chr2	210477682	210679107	+	ENSG00000021826.14	protein_coding	CPSASE1|GATD6|PHN	2q34	carbamoyl-phosphate synthase 1	The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]
CPSF1	chr8	144393229	144409349	-	ENSG00000071894.16	protein_coding	CPSF160|HSU37012|MYP27|P/cl.18	8q24.3	cleavage and polyadenylation specific factor 1	Cleavage and polyadenylation specificity factor (CPSF) is a multisubunit complex that plays a central role in 3-prime processing of pre-mRNAs. CPSF recognizes the AAUAAA signal in the pre-mRNA and interacts with other proteins to facilitate both RNA cleavage and poly(A) synthesis. CPSF1 is the largest subunit of the CPSF complex (Murthy and Manley, 1995 [PubMed 7590244]).[supplied by OMIM, Mar 2008]
CPSF2	chr14	92121937	92172145	+	ENSG00000165934.12	protein_coding	CPSF100	14q32.12	cleavage and polyadenylation specific factor 2	Ubiquitous expression in testis (RPKM 13.0), thyroid (RPKM 12.9) and 25 other tissues
CPSF3	chr2	9423568	9473101	+	ENSG00000119203.13	protein_coding	CPSF-73|CPSF73	2p25.1	cleavage and polyadenylation specific factor 3	This gene encodes a member of the metallo-beta-lactamase family. The encoded protein is a 73kDa subunit of the cleavage and polyadenylation specificity factor and functions as an endonuclease that recognizes the pre-mRNA 3-cleavage site AAUAAA prior to polyadenylation. It also cleaves after the pre-mRNA sequence ACCCA during histone 3-end pre-mRNA processing. [provided by RefSeq, Oct 2012]
CPSF4	chr7	99438922	99457371	+	ENSG00000160917.14	protein_coding	CPSF30|NAR|NEB-1|NEB1	7q22.1	cleavage and polyadenylation specific factor 4	Inhibition of the nuclear export of poly(A)-containing mRNAs caused by the influenza A virus NS1 protein requires its effector domain. The NS1 effector domain functionally interacts with the cellular 30 kDa subunit of cleavage and polyadenylation specific factor 4, an essential component of the 3 end processing machinery of cellular pre-mRNAs. In influenza virus-infected cells, the NS1 protein is physically associated with cleavage and polyadenylation specific factor 4, 30kD subunit. Binding of the NS1 protein to the 30 kDa protein in vitro prevents CPSF binding to the RNA substrate and inhibits 3 end cleavage and polyadenylation of host pre-mRNAs. Thus the NS1 protein selectively inhibits the nuclear export of cellular, and not viral, mRNAs. Multiple alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
CPSF6	chr12	69239537	69274358	+	ENSG00000111605.16	protein_coding	CFIM|CFIM68|CFIM72|HPBRII-4|HPBRII-7	12q15	cleavage and polyadenylation specific factor 6	The protein encoded by this gene is one subunit of a cleavage factor required for 3 RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3 end processing complex and facilitates the recruitment of other processing factors. The cleavage factor complex is composed of four polypeptides. This gene encodes the 68kD subunit. It has a domain organization reminiscent of spliceosomal proteins. [provided by RefSeq, Jul 2008]
CPSF7	chr11	61402641	61430031	-	ENSG00000149532.15	protein_coding	CFIm59	11q12.2	cleavage and polyadenylation specific factor 7	Cleavage factor Im (CFIm) is one of six factors necessary for correct cleavage and polyadenylation of pre-mRNAs. CFIm is composed of three different subunits of 25, 59, and 68 kDa, and it functions as a heterotetramer, with a dimer of the 25 kDa subunit binding to two of the 59 or 68 kDa subunits. The protein encoded by this gene represents the 59 kDa subunit, which can interact with the splicing factor U2 snRNP Auxiliary Factor (U2AF) 65 to link the splicing and polyadenylation complexes. [provided by RefSeq, Oct 2016]
CPT1A	chr11	68754620	68844410	-	ENSG00000110090.12	protein_coding	CPT1|CPT1-L|L-CPT1	11q13.3	carnitine palmitoyltransferase 1A	The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
CPT1B	chr22	50568861	50578465	-	ENSG00000205560.12	protein_coding	CPT1-M|CPT1M|CPTI|CPTI-M|M-CPT1|MCCPT1|MCPT1	22q13.33	carnitine palmitoyltransferase 1B	The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009]
CPT1C	chr19	49690898	49713731	+	ENSG00000169169.14	protein_coding	CATL1|CPT1-B|CPT1P|CPTI-B|CPTIC|SPG73	19q13.33	carnitine palmitoyltransferase 1C	This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
CPT2	chr1	53196429	53214197	+	ENSG00000157184.6	protein_coding	CPT1|CPTASE|IIAE4	1p32.3	carnitine palmitoyltransferase 2	The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]
CPTP	chr1	1324756	1328897	+	ENSG00000224051.6	protein_coding	GLTPD1	1p36.33	ceramide-1-phosphate transfer protein	Broad expression in testis (RPKM 11.0), colon (RPKM 8.1) and 25 other tissues
CPVL	chr7	28995231	29195451	-	ENSG00000106066.14	protein_coding	HVLP	7p14.3	carboxypeptidase vitellogenic like	The protein encoded by this gene is a carboxypeptidase and bears strong sequence similarity to serine carboxypeptidases. Carboxypeptidases are a large class of proteases that act to cleave a single amino acid from the carboxy termini of proteins or peptides. The exact function of this protein, however, has not been determined. [provided by RefSeq, Jan 2017]
CPXM1	chr20	2794069	2800637	-	ENSG00000088882.7	protein_coding	CPX1|CPXM	20p13	carboxypeptidase X, M14 family member 1	This gene likely encodes a member of the carboxypeptidase family of proteins. Cloning of a comparable locus in mouse indicates that the encoded protein contains a discoidin domain and a carboxypeptidase domain, but the protein appears to lack residues necessary for carboxypeptidase activity.[provided by RefSeq, May 2010]
CPXM2	chr10	123706207	123940267	-	ENSG00000121898.12	protein_coding	CPX2|UNQ676	10q26.13	carboxypeptidase X, M14 family member 2	Broad expression in urinary bladder (RPKM 10.5), fat (RPKM 8.3) and 19 other tissues
CPZ	chr4	8592660	8619759	+	ENSG00000109625.18	protein_coding	-	4p16.1	carboxypeptidase Z	Biased expression in ovary (RPKM 47.9), placenta (RPKM 26.8) and 8 other tissues
CR1	chr1	207496147	207640647	+	ENSG00000203710.10	protein_coding	C3BR|C4BR|CD35|KN	1q32.2	complement C3b/C4b receptor 1 (Knops blood group)	This gene is a member of the receptors of complement activation (RCA) family and is located in the cluster RCA region of chromosome 1. The genome is polymorphic at this locus with allele-specific splice variants encoding different isoforms, based on the presence/absence of long homologous repeats (LHRs). The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in this gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus, sarcoidosis and Alzheimers disease. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. [provided by RefSeq, May 2020]
CR1L	chr1	207645113	207738416	+	ENSG00000197721.16	protein_coding	-	1q32.2	complement C3b/C4b receptor 1 like	-
CR2	chr1	207454230	207489895	+	ENSG00000117322.17	protein_coding	C3DR|CD21|CR|CVID7|SLEB9	1q32.2	complement C3d receptor 2	This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
CRABP1	chr15	78340324	78348230	+	ENSG00000166426.7	protein_coding	CRABP|CRABP-I|CRABPI|RBP5	15q25.1	cellular retinoic acid binding protein 1	This gene encodes a specific binding protein for a vitamin A family member and is thought to play an important role in retinoic acid-mediated differentiation and proliferation processes. It is structurally similar to the cellular retinol-binding proteins, but binds only retinoic acid at specific sites within the nucleus, which may contribute to vitamin A-directed differentiation in epithelial tissue. [provided by RefSeq, Jul 2008]
CRABP2	chr1	156699606	156705816	-	ENSG00000143320.8	protein_coding	CRABP-II|RBP6	1q23.1	cellular retinoic acid binding protein 2	This gene encodes a member of the retinoic acid (RA, a form of vitamin A) binding protein family and lipocalin/cytosolic fatty-acid binding protein family. The protein is a cytosol-to-nuclear shuttling protein, which facilitates RA binding to its cognate receptor complex and transfer to the nucleus. It is involved in the retinoid signaling pathway, and is associated with increased circulating low-density lipoprotein cholesterol. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2010]
CRACD	chr4	 56049098	56330609	+	ENSG00000109265	protein-coding	CRAD|KIAA1211	4q12	capping protein inhibiting regulator of actin dynamics	Biased expression in testis (RPKM 12.2), small intestine (RPKM 8.0) and 13 other tissues
CRACDL	chr2	 98793846	98936225	-	ENSG00000196872	protein-coding	C2orf55|KIAA1211L	2q11.2	CRACD like	-
CRACR2A	chr12	3606633	3764819	-	ENSG00000130038.9	protein_coding	EFCAB4B|RAB46	12p13.32	calcium release activated channel regulator 2A	Broad expression in salivary gland (RPKM 9.7), colon (RPKM 7.2) and 16 other tissues
CRACR2B	chr11	826144	831991	+	ENSG00000177685.16	protein_coding	EFCAB4A	11p15.5	calcium release activated channel regulator 2B	Biased expression in salivary gland (RPKM 19.1), stomach (RPKM 14.0) and 12 other tissues
CRADD	chr12	93677375	93894840	+	ENSG00000169372.12	protein_coding	MRT34|RAIDD	12q22	CASP2 and RIPK1 domain containing adaptor with death domain	This gene encodes a protein containing a death domain (DD) motif. This protein recruits caspase 2/ICH1 to the cell death signal transduction complex, which includes tumor necrosis factor receptor 1 (TNFR1A) and RIPK1/RIP kinase, and acts in promoting apoptosis. A mutation in this gene was associated with cognitive disability. A related pseudogene is found on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
CRAMP1	chr16	1612325	1677908	+	ENSG00000007545.15	protein_coding	CRAMP1L|HN1L|TCE4	16p13.3	cramped chromatin regulator homolog 1	Broad expression in testis (RPKM 13.3), skin (RPKM 5.0) and 24 other tissues
CRAT	chr9	129094810	129111189	-	ENSG00000095321.16	protein_coding	CAT|CAT1|NBIA8	9q34.11	carnitine O-acetyltransferase	This gene encodes carnitine O-acetyltransferase, a member of the carnitine acyltransferase family and a key metabolic pathway enzyme which plays an important role in energy homeostasis and fat metabolism. This enzyme catalyzes the reversible transfer of acyl groups from an acyl-CoA thioester to carnitine and regulates the ratio of acyl-CoA/CoA. It is found in both the mitochondria and the peroxisome. Alternative splicing results in transcript variants encoding different isoforms that may localize to different subcellular compartments. [provided by RefSeq, Oct 2016]
CRB1	chr1	197268204	197478455	+	ENSG00000134376.15	protein_coding	CRB1-A|CRB1-B|CRB1-C|LCA8|RP12	1q31.3	crumbs cell polarity complex component 1	This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012]
CRB2	chr9	123356170	123380324	+	ENSG00000148204.11	protein_coding	FSGS9|VMCKD	9q33.3	crumbs cell polarity complex component 2	This gene encodes a member of a family of proteins that are components of the Crumbs cell polarity complex. In mammals, members of this family are thought to play a role in many cellular processes in early embryonic development. A similar protein in Drosophila determines apicobasal polarity in embryonic epithelial cells. Mutations in this gene are associated with focal segmental glomerulosclerosis 9, and with ventriculomegaly with cystic kidney disease. [provided by RefSeq, Aug 2016]
CRB3	chr19	6463777	6467221	+	ENSG00000130545.15	protein_coding	-	19p13.3	crumbs cell polarity complex component 3	Broad expression in colon (RPKM 9.7), duodenum (RPKM 9.6) and 16 other tissues
CRBN	chr3	3144628	3179727	-	ENSG00000113851.14	protein_coding	MRT2|MRT2A	3p26.2	cereblon	This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
CRCP	chr7	66114604	66154568	+	ENSG00000241258.6	protein_coding	C17|CGRP-RCP|CGRPRCP|POLR3I|POLR3J|RCP|RCP9|RPC9	7q11.21	CGRP receptor component	This gene encodes a membrane protein that functions as part of a receptor complex for a small neuropeptide that increases intracellular cAMP levels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
CRCT1	chr1	152514502	152516010	+	ENSG00000169509.5	protein_coding	C1orf42|NICE-1|NICE1	1q21.3	cysteine rich C-terminal 1	Biased expression in skin (RPKM 17.3) and esophagus (RPKM 17.1)
CREB1	chr2	207529737	207603431	+	ENSG00000118260.14	protein_coding	CREB|CREB-1	2q33.3	cAMP responsive element binding protein 1	This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds as a homodimer to the cAMP-responsive element, an octameric palindrome. The protein is phosphorylated by several protein kinases, and induces transcription of genes in response to hormonal stimulation of the cAMP pathway. Alternate splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
CREB3	chr9	35732335	35737004	+	ENSG00000107175.11	protein_coding	LUMAN|LZIP|sLZIP	9p13.3	cAMP responsive element binding protein 3	This gene encodes a transcription factor that is a member of the leucine zipper family of DNA binding proteins. This protein binds to the cAMP-response element and regulates cell proliferation. The protein interacts with host cell factor C1, which also associates with the herpes simplex virus (HSV) protein VP16 that induces transcription of HSV immediate-early genes. This protein and VP16 both bind to the same site on host cell factor C1. It is thought that the interaction between this protein and host cell factor C1 plays a role in the establishment of latency during HSV infection. This protein also plays a role in leukocyte migration, tumor suppression, and endoplasmic reticulum stress-associated protein degradation. Additional transcript variants have been identified, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]
CREB3L1	chr11	46277661	46321422	+	ENSG00000157613.10	protein_coding	OASIS|OI16	11p11.2	cAMP responsive element binding protein 3 like 1	The protein encoded by this gene is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved and the released cytoplasmic transcription factor domain translocates to the nucleus. There it activates the transcription of target genes by binding to box-B elements. [provided by RefSeq, Jun 2013]
CREB3L2	chr7	137874979	138002067	-	ENSG00000182158.14	protein_coding	BBF2H7	7q33	cAMP responsive element binding protein 3 like 2	This gene encodes a member of the oasis bZIP transcription factor family. Members of this family can dimerize but form homodimers only. The encoded protein is a transcriptional activator. Translocations between this gene on chromosome 7 and the gene fused in sarcoma on chromosome 16 can be found in some tumors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
CREB3L3	chr19	4153601	4173054	+	ENSG00000060566.13	protein_coding	CREB-H|CREBH|HYST1481|HYTG2	19p13.3	cAMP responsive element binding protein 3 like 3	This gene encodes a member of the basic-leucine zipper family and the AMP-dependent transcription factor family. The encoded protein is localized to the endoplasmic reticulum and acts as a transcription factor activated by cyclic AMP stimulation. The encoded protein binds the cyclic AMP response element (CRE) and the box-B element and has been linked to acute inflammatory response, hepatocellular carcinoma, triglyceride metabolism, and hepcidin expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
CREB3L4	chr1	153967534	153974363	+	ENSG00000143578.15	protein_coding	AIBZIP|ATCE1|CREB3|CREB4|JAL|hJAL	1q21.3	cAMP responsive element binding protein 3 like 4	This gene encodes a CREB (cAMP responsive element binding) protein with a transmembrane domain which localizes it to the ER membrane. The encoded protein is a transcriptional activator which contains a dimerization domain, and this protein may function in a number of processing pathways including protein processing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
CREB5	chr7	28299321	28825894	+	ENSG00000146592.16	protein_coding	CRE-BPA|CREB-5|CREBPA	7p15.1-p14.3	cAMP responsive element binding protein 5	The product of this gene belongs to the CRE (cAMP response element)-binding protein family. Members of this family contain zinc-finger and bZIP DNA-binding domains. The encoded protein specifically binds to CRE as a homodimer or a heterodimer with c-Jun or CRE-BP1, and functions as a CRE-dependent trans-activator. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
CREBBP	chr16	3725054	3880726	-	ENSG00000005339.14	protein_coding	CBP|KAT3A|MKHK1|RSTS|RSTS1	16p13.3	CREB binding protein	This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]
CREBL2	chr12	12611827	12645108	+	ENSG00000111269.2	protein_coding	-	12p13.1	cAMP responsive element binding protein like 2	Ubiquitous expression in adrenal (RPKM 84.6), thyroid (RPKM 31.5) and 23 other tissues
CREBRF	chr5	173056352	173139284	+	ENSG00000164463.12	protein_coding	C5orf41|LRF	5q35.1	CREB3 regulatory factor	Ubiquitous expression in thyroid (RPKM 12.2), bone marrow (RPKM 8.3) and 25 other tissues
CREBZF	chr11	85659708	85682908	-	ENSG00000137504.13	protein_coding	SMILE|ZF	11q14.1	CREB/ATF bZIP transcription factor	Ubiquitous expression in endometrium (RPKM 18.3), spleen (RPKM 18.1) and 25 other tissues
CREG1	chr1	167529677	167553767	-	ENSG00000143162.7	protein_coding	CREG	1q24.2	cellular repressor of E1A stimulated genes 1	The adenovirus E1A protein both activates and represses gene expression to promote cellular proliferation and inhibit differentiation. The protein encoded by this gene antagonizes transcriptional activation and cellular transformation by E1A. This protein shares limited sequence similarity with E1A and binds both the general transcription factor TBP and the tumor suppressor pRb in vitro. This gene may contribute to the transcriptional control of cell growth and differentiation. [provided by RefSeq, Jul 2008]
CRELD1	chr3	9933822	9945413	+	ENSG00000163703.17	protein_coding	AVSD2|CIRRIN	3p25.3	cysteine rich with EGF like domains 1	This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
CRELD2	chr22	49918167	49927540	+	ENSG00000184164.14	protein_coding	-	22q13.33	cysteine rich with EGF like domains 2	-
CREM	chr10	35126791	35212958	+	ENSG00000095794.19	protein_coding	CREM-2|ICER|hCREM-2	10p11.21	cAMP responsive element modulator	This gene encodes a bZIP transcription factor that binds to the cAMP responsive element found in many viral and cellular promoters. It is an important component of cAMP-mediated signal transduction during the spermatogenetic cycle, as well as other complex processes. Alternative promoter and translation initiation site usage allows this gene to exert spatial and temporal specificity to cAMP responsiveness. Multiple alternatively spliced transcript variants encoding several different isoforms have been found for this gene, with some of them functioning as activators and some as repressors of transcription. [provided by RefSeq, Jul 2008]
CRHBP	chr5	76952713	76981158	+	ENSG00000145708.10	protein_coding	CRF-BP|CRFBP	5q13.3	corticotropin releasing hormone binding protein	Corticotropin-releasing hormone is a potent stimulator of synthesis and secretion of preopiomelanocortin-derived peptides. Although CRH concentrations in the human peripheral circulation are normally low, they increase throughout pregnancy and fall rapidly after parturition. Maternal plasma CRH probably originates from the placenta. Human plasma contains a CRH-binding protein which inactivates CRH and which may prevent inappropriate pituitary-adrenal stimulation in pregnancy. [provided by RefSeq, Jul 2008]
CRHR1	chr17	45784280	45835828	+	ENSG00000120088.14	protein_coding	CRF-R|CRF-R-1|CRF-R1|CRF1|CRFR-1|CRFR1|CRH-R-1|CRH-R1|CRHR|CRHR1L	17q21.31	corticotropin releasing hormone receptor 1	This gene encodes a G-protein coupled receptor that binds neuropeptides of the corticotropin releasing hormone family that are major regulators of the hypothalamic-pituitary-adrenal pathway. The encoded protein is essential for the activation of signal transduction pathways that regulate diverse physiological processes including stress, reproduction, immune response and obesity. Alternative splicing results in multiple transcript variants. Naturally-occurring readthrough transcription between this gene and upstream GeneID:147081 results in transcripts that encode isoforms that share similarity with the products of this gene. [provided by RefSeq, Aug 2016]
CRHR2	chr7	30651943	30700129	-	ENSG00000106113.18	protein_coding	CRF-RB|CRF2|CRFR2|HM-CRF	7p14.3	corticotropin releasing hormone receptor 2	The protein encoded by this gene belongs to the G-protein coupled receptor 2 family, and the subfamily of corticotropin releasing hormone receptor. This receptor shows high affinity for corticotropin releasing hormone (CRH), and also binds CRH-related peptides such as urocortin. CRH is synthesized in the hypothalamus, and plays an important role in coordinating the endocrine, autonomic, and behavioral responses to stress and immune challenge. Studies in mice suggest that this receptor maybe involved in mediating cardiovascular homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jan 2011]
CRIM1	chr2	36355926	36551135	+	ENSG00000150938.9	protein_coding	CRIM-1|S52	2p22.2	cysteine rich transmembrane BMP regulator 1	This gene encodes a transmembrane protein containing six cysteine-rich repeat domains and an insulin-like growth factor-binding domain. The encoded protein may play a role in tissue development though interactions with members of the transforming growth factor beta family, such as bone morphogenetic proteins. [provided by RefSeq, Nov 2010]
CRIP1	chr14	105486317	105488947	+	ENSG00000213145.9	protein_coding	CRHP|CRIP|CRP-1|CRP1	14q32.33	cysteine rich protein 1	Cysteine-rich intestinal protein (CRIP) belongs to the LIM/double zinc finger protein family, members of which include cysteine- and glycine-rich protein-1 (CSRP1; MIM 123876), rhombotin-1 (RBTN1; MIM 186921), rhombotin-2 (RBTN2; MIM 180385), and rhombotin-3 (RBTN3; MIM 180386). CRIP may be involved in intestinal zinc transport (Hempe and Cousins, 1991 [PubMed 1946385]).[supplied by OMIM, Mar 2008]
CRIP1P1	chr3	12673699	12673883	+	ENSG00000233252.1	processed_pseudogene	-	3p25.2	cysteine rich protein 1 pseudogene 1	-
CRIP3	chr6	43299710	43308797	-	ENSG00000146215.13	protein_coding	CRP-3|TLP|TLP-A|h6LIMo	6p21.1	cysteine rich protein 3	Biased expression in liver (RPKM 2.8), heart (RPKM 2.6) and 13 other tissues
CRIPAK	chr4	1391552	1395989	+	ENSG00000179979.8	protein_coding	-	-	-	-
CRIPT	chr2	46616416	46625742	+	ENSG00000119878.5	protein_coding	HSPC139|SSMDF	2p21	CXXC repeat containing interactor of PDZ3 domain	This gene encodes a protein that binds to the PDZ3 peptide recognition domain. The encoded protein may modulates protein interactions with the cytoskeleton. A mutation in this gene resulted in short stature with microcephaly and distinctive facies. [provided by RefSeq, Jun 2014]
CRISP2	chr6	49692358	49713590	-	ENSG00000124490.13	protein_coding	CRISP-2|CT36|GAPDL5|TPX1|TSP1	6p12.3	cysteine rich secretory protein 2	Predicted to be involved in cell-cell adhesion. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
CRISP3	chr6	49727384	49744437	-	ENSG00000096006.11	protein_coding	Aeg2|CRISP-3|CRS3|SGP28|dJ442L6.3	6p12.3	cysteine rich secretory protein 3	This gene encodes a member of the cysteine-rich secretory protein (CRISP) family within the CRISP, antigen 5 and pathogenesis-related 1 proteins superfamily. The encoded protein has an N-terminal CRISP, antigen 5 and pathogenesis-related 1 proteins domain, a hinge region, and a C-terminal ion channel regulator domain. This protein contains cysteine residues, located in both the N- and C-terminal domains, that form eight disulfide bonds, a distinguishing characteristic of this family. This gene is expressed in the male reproductive tract where it plays a role in sperm function and fertilization, and the female reproductive tract where it plays a role in endometrial receptivity for embryo implantation. This gene is upregulated in certain types of prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
CRISPLD1	chr8	74984515	75034558	+	ENSG00000121005.8	protein_coding	CRISP-10|CRISP10|LCRISP1	8q21.13	cysteine rich secretory protein LCCL domain containing 1	Broad expression in prostate (RPKM 14.1), thyroid (RPKM 6.1) and 15 other tissues
CRISPLD2	chr16	84819984	84920768	+	ENSG00000103196.11	protein_coding	CRISP11|LCRISP2|LGL1	16q24.1	cysteine rich secretory protein LCCL domain containing 2	Broad expression in gall bladder (RPKM 67.9), placenta (RPKM 54.3) and 20 other tissues
CRK	chr17	1420689	1463162	-	ENSG00000167193.7	protein_coding	CRKII|p38	17p13.3	CRK proto-oncogene, adaptor protein	This gene encodes a member of an adapter protein family that binds to several tyrosine-phosphorylated proteins. The product of this gene has several SH2 and SH3 domains (src-homology domains) and is involved in several signaling pathways, recruiting cytoplasmic proteins in the vicinity of tyrosine kinase through SH2-phosphotyrosine interaction. The N-terminal SH2 domain of this protein functions as a positive regulator of transformation whereas the C-terminal SH3 domain functions as a negative regulator of transformation. Two alternative transcripts encoding different isoforms with distinct biological activity have been described. [provided by RefSeq, Jul 2008]
CRKL	chr22	20917426	20953749	+	ENSG00000099942.12	protein_coding	-	22q11.21	CRK like proto-oncogene, adaptor protein	Ubiquitous expression in brain (RPKM 22.4), bone marrow (RPKM 22.0) and 25 other tissues
CRLF1	chr19	18572220	18607741	-	ENSG00000006016.10	protein_coding	CISS|CISS1|CLF|CLF-1|NR6|zcytor5	19p13.11	cytokine receptor like factor 1	This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells. Mutations in this gene result in Crisponi syndrome and cold-induced sweating syndrome. [provided by RefSeq, Oct 2009]
CRLF3	chr17	30769388	30824776	-	ENSG00000176390.11	protein_coding	CREME-9|CREME9|CRLM9|CYTOR4|FRWS|p48.2	17q11.2	cytokine receptor like factor 3	This gene encodes a cytokine receptor-like factor that may negatively regulate cell cycle progression at the G0/G1 phase. Studies of the related rat protein suggest that it may regulate neuronal morphology and synaptic vesicle biogenesis. This gene is one of several genes located in the neurofibromatosis type I tumor suppressor region on the q arm of chromosome 17, a region that is subject to microdeletions, duplications, chromosomal breaks and rearrangements. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2 and 5. [provided by RefSeq, Aug 2012]
CRLS1	chr20	6006090	6040053	+	ENSG00000088766.11	protein_coding	C20orf155|CLS|CLS1|GCD10|dJ967N21.6	20p12.3	cardiolipin synthase 1	This gene encodes a member of the CDP-alcohol phosphatidyltransferase class-I family of proteins. The encoded enzyme catalyzes the synthesis of cardiolipin, a phospholipid component of mitochondrial membranes that is critical for mitochondrial function. [provided by RefSeq, Apr 2016]
CRMA	chr20	 62543070	62551561	-	-	ncRNA	C20orf166-AS1|C20orf200|CARMA|MIR1-1HG-AS1|NCRNA00335	20q13.33	cardiomyocyte maturation associated lncRNA	-
CRMP1	chr4	5748084	5893058	-	ENSG00000072832.14	protein_coding	CRMP-1|DPYSL1|DRP-1|DRP1|ULIP-3	4p16.2	collapsin response mediator protein 1	This gene encodes a member of a family of cytosolic phosphoproteins expressed exclusively in the nervous system. The encoded protein is thought to be a part of the semaphorin signal transduction pathway implicated in semaphorin-induced growth cone collapse during neural development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
CRNKL1	chr20	20034368	20056046	-	ENSG00000101343.14	protein_coding	CLF|CRN|Clf1|HCRN|MSTP021|SYF3	20p11.23	crooked neck pre-mRNA splicing factor 1	The crooked neck (crn) gene of Drosophila is essential for embryogenesis and is thought to be involved in cell cycle progression and pre-mRNA splicing. A protein encoded by this human locus has been found to localize to pre-mRNA splicing complexes in the nucleus and is necessary for pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2013]
CRNN	chr1	152409243	152414263	-	ENSG00000143536.7	protein_coding	C1orf10|DRC1|PDRC1|SEP53	1q21.3	cornulin	This gene encodes a member of the fused gene family of proteins, which contain N-terminus EF-hand domains and multiple tandem peptide repeats. The encoded protein contains two EF-hand Ca2+ binding domains in its N-terminus and two glutamine- and threonine-rich 60 amino acid repeats in its C-terminus. This gene, also known as squamous epithelial heat shock protein 53, may play a role in the mucosal/epithelial immune response and epidermal differentiation. [provided by RefSeq, Jan 2009]
CROCC	chr1	16740273	16972979	+	ENSG00000058453.16	protein_coding	ROLT|TAX1BP2	1p36.13	ciliary rootlet coiled-coil, rootletin	Ubiquitous expression in skin (RPKM 4.6), spleen (RPKM 3.7) and 25 other tissues
CROCC2	chr2	240906330	240993311	+	ENSG00000226321.5	protein_coding	-	2q37.3	ciliary rootlet coiled-coil, rootletin family member 2	-
CROCCP2	chr1	16618253	16657232	-	ENSG00000215908.10	transcribed_unprocessed_pseudogene	CROCCL1	1p36.13	CROCC pseudogene 2	Ubiquitous expression in spleen (RPKM 16.1), duodenum (RPKM 15.2) and 25 other tissues
CROCCP3	chr1	16467436	16499257	-	ENSG00000080947.14	transcribed_unprocessed_pseudogene	CROCCL2|dJ798A10.2	1p36.13	CROCC pseudogene 3	Ubiquitous expression in endometrium (RPKM 1.6), ovary (RPKM 1.5) and 24 other tissues
CROCCP4	chr1	16740280	16750968	+	ENSG00000227684.2	transcribed_unprocessed_pseudogene	-	1p36.13	CROCC pseudogene 4	-
CROCCP5	chr1	21434318	21437558	+	ENSG00000186543.7	unprocessed_pseudogene	-	1p36.12	CROCC pseudogene 5	-
CRTAC1	chr10	97865000	98030828	-	ENSG00000095713.13	protein_coding	ASPIC|ASPIC1|CEP-68|CEP68|LOTUS	10q24.2	cartilage acidic protein 1	This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
CRTAP	chr3	33113979	33147773	+	ENSG00000170275.14	protein_coding	CASP|LEPREL3|OI7|P3H5	3p22.3	cartilage associated protein	The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008]
CRTC1	chr19	18683677	18782333	+	ENSG00000105662.15	protein_coding	MAML2|MECT1|Mam-2|TORC-1|TORC1|WAMTP1	19p13.11	CREB regulated transcription coactivator 1	Ubiquitous expression in brain (RPKM 4.7), testis (RPKM 2.0) and 24 other tissues
CRTC2	chr1	153947669	153958625	-	ENSG00000160741.16	protein_coding	TORC-2|TORC2	1q21.3	CREB regulated transcription coactivator 2	This gene encodes a member of the transducers of regulated cAMP response element-binding protein activity family of transcription coactivators. These proteins promote the transcription of genes targeted by the cAMP response element-binding protein, and therefore play an important role in many cellular processes. Under basal conditions the encoded protein is phosphorylated by AMP-activated protein kinase or the salt-inducible kinases and is sequestered in the cytoplasm. Upon activation by elevated cAMP or calcium, the encoded protein translocates to the nucleus and increases target gene expression. Single nucleotide polymorphisms in this gene may increase the risk of type 2 diabetes. A pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2010]
CRTC3	chr15	90529925	90645345	+	ENSG00000140577.15	protein_coding	TORC-3|TORC3	15q26.1	CREB regulated transcription coactivator 3	This gene is a member of the CREB regulated transcription coactivator gene family. This family regulates CREB-dependent gene transcription in a phosphorylation-independent manner and may be selective for cAMP-responsive genes. The protein encoded by this gene may induce mitochondrial biogenesis and attenuate catecholamine signaling in adipose tissue. A translocation event between this gene and Notch coactivator mastermind-like gene 2, which results in a fusion protein, has been reported in mucoepidermoid carcinomas. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
CRY1	chr12	106991364	107093829	-	ENSG00000008405.11	protein_coding	DSPD|PHLL1	12q23.3	cryptochrome circadian regulator 1	This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. Loss of the related gene in mouse results in a shortened circadian cycle in complete darkness. [provided by RefSeq, Jan 2014]
CRY2	chr11	45847118	45883248	+	ENSG00000121671.11	protein_coding	HCRY2|PHLL2	11p11.2	cryptochrome circadian regulator 2	This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]
CRYAB	chr11	111908565	111923722	-	ENSG00000109846.7	protein_coding	CMD1II|CRYA2|CTPP2|CTRCT16|HEL-S-101|HSPB5|MFM2	11q23.1	crystallin alpha B	Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2019]
CRYBA1	chr17	29246863	29254494	+	ENSG00000108255.7	protein_coding	CRYB1|CTRCT10	17q11.2	crystallin beta A1	Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease zonular cataract with sutural opacities. [provided by RefSeq, Jul 2008]
CRYBA2	chr2	218990189	218993421	-	ENSG00000163499.11	protein_coding	CTRCT42	2q35	crystallin beta A2	Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of the vertebrate eye, which function to maintain the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also defined as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group but absent in the acidic group). Beta-crystallins form aggregates of different sizes and are able to form homodimers through self-association or heterodimers with other beta-crystallins. This gene is a beta acidic group member. Three alternatively spliced transcript variants encoding identical proteins have been reported. [provided by RefSeq, Jul 2008]
CRYBG2	chr1	 26321865	26354130	-	ENSG00000176092	protein-coding	AIM1L	1p36.11	crystallin beta-gamma domain containing 2	Biased expression in esophagus (RPKM 18.9), skin (RPKM 6.5) and 5 other tissues
CRYGA	chr2	208160740	208163576	-	ENSG00000168582.4	protein_coding	CRY-g-A|CRYG1|CRYG5	2q33.3	crystallin gamma A	Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]
CRYGS	chr3	186538441	186546702	-	ENSG00000213139.7	protein_coding	CRYG8|CTRCT20	3q27.3	crystallin gamma S	Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]
CRYL1	chr13	20403667	20525857	-	ENSG00000165475.13	protein_coding	GDH|HEL30|gul3DH|lambda-CRY	13q12.11	crystallin lambda 1	The uronate cycle functions as an alternative glucose metabolic pathway, accounting for about 5% of daily glucose catabolism. The product of this gene catalyzes the dehydrogenation of L-gulonate into dehydro-L-gulonate in the uronate cycle. The enzyme requires NAD(H) as a coenzyme, and is inhibited by inorganic phosphate. A similar gene in the rabbit is thought to serve a structural role in the lens of the eye. [provided by RefSeq, Jul 2008]
CRYZL1	chr21	33589341	33643926	-	ENSG00000205758.11	protein_coding	4P11|QOH-1	21q22.11	crystallin zeta like 1	This gene encodes a protein that has sequence similarity to zeta crystallin, also known as quinone oxidoreductase. This zeta crystallin-like protein also contains an NAD(P)H binding site. Alternatively spliced transcript variants have been observed but their full-length nature has not been completely determined. [provided by RefSeq, Jul 2008]
CRYZP1	chr7	103088664	103089610	-	ENSG00000233025.1	processed_pseudogene	-	7q22.1	crystallin zeta pseudogene 1	-
CS	chr12	56271699	56300392	-	ENSG00000062485.18	protein_coding	-	12q13.3	citrate synthase	Ubiquitous expression in heart (RPKM 124.5), fat (RPKM 107.9) and 25 other tissues
CSAD	chr12	53157663	53180909	-	ENSG00000139631.18	protein_coding	CSD|PCAP	12q13.13	cysteine sulfinic acid decarboxylase	This gene encodes a member of the group 2 decarboxylase family. A similar protein in rodents plays a role in multiple biological processes as the rate-limiting enzyme in taurine biosynthesis, catalyzing the decarboxylation of cysteinesulfinate to hypotaurine. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
CSDC2	chr22	41560763	41577741	+	ENSG00000172346.14	protein_coding	PIPPIN|dJ347H13.2	22q13.2	cold shock domain containing C2	Biased expression in ovary (RPKM 40.0), heart (RPKM 28.6) and 8 other tissues
CSDE1	chr1	114716913	114758676	-	ENSG00000009307.15	protein_coding	D1S155E|UNR	1p13.2	cold shock domain containing E1	Ubiquitous expression in fat (RPKM 208.0), thyroid (RPKM 164.2) and 25 other tissues
CSE1L	chr20	49046246	49096960	+	ENSG00000124207.16	protein_coding	CAS|CSE1|XPO2	20q13.13	chromosome segregation 1 like	Proteins that carry a nuclear localization signal (NLS) are transported into the nucleus by the importin-alpha/beta heterodimer. Importin-alpha binds the NLS, while importin-beta mediates translocation through the nuclear pore complex. After translocation, RanGTP binds importin-beta and displaces importin-alpha. Importin-alpha must then be returned to the cytoplasm, leaving the NLS protein behind. The protein encoded by this gene binds strongly to NLS-free importin-alpha, and this binding is released in the cytoplasm by the combined action of RANBP1 and RANGAP1. In addition, the encoded protein may play a role both in apoptosis and in cell proliferation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
CSE1L-DT	chr20	 49040463	49046056	-	ENSG00000227431	ncRNA	CSE1L-AS1	20q13.13	CSE1L divergent transcript	-
CSF1	chr1	109910242	109930992	+	ENSG00000184371.13	protein_coding	CSF-1|MCSF	1p13.3	colony stimulating factor 1	The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of macrophages. The active form of the protein is found extracellularly as a disulfide-linked homodimer, and is thought to be produced by proteolytic cleavage of membrane-bound precursors. The encoded protein may be involved in development of the placenta. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
CSF1R	chr5	150053291	150113372	-	ENSG00000182578.13	protein_coding	BANDDOS|C-FMS|CD115|CSF-1R|CSFR|FIM2|FMS|HDLS|M-CSF-R	5q32	colony stimulating factor 1 receptor	The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. Expression of a splice variant from an LTR promoter has been found in Hodgkin lymphoma (HL), HL cell lines and anaplastic large cell lymphoma. [provided by RefSeq, Mar 2017]
CSF2	chr5	132073790	132076170	+	ENSG00000164400.5	protein_coding	CSF|GMCSF	5q31.1	colony stimulating factor 2	The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster of related genes at chromosome region 5q31, which is known to be associated with interstitial deletions in the 5q- syndrome and acute myelogenous leukemia. Other genes in the cluster include those encoding interleukins 4, 5, and 13. This gene plays a role in promoting tissue inflammation. Elevated levels of cytokines, including the one produced by this gene, have been detected in SARS-CoV-2 infected patients that develop acute respiratory distress syndrome. Mice deficient in this gene or its receptor develop pulmonary alveolar proteinosis. [provided by RefSeq, Aug 2020]
CSF2RA	chrX	1268800	1310381	+	ENSG00000198223.16	protein_coding	CD116|CDw116|CSF2R|CSF2RAX|CSF2RAY|CSF2RX|CSF2RY|GM-CSF-R-alpha|GMCSFR|GMCSFR-alpha|GMR|GMR-alpha|SMDP4|alphaGMR	X;Y	colony stimulating factor 2 receptor subunit alpha	The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008]
CSF2RB	chr22	36913628	36940449	+	ENSG00000100368.13	protein_coding	CD131|CDw131|IL3RB|IL5RB|SMDP5|betaGMR	22q12.3	colony stimulating factor 2 receptor subunit beta	The protein encoded by this gene is the common beta chain of the high affinity receptor for IL-3, IL-5 and CSF. Defects in this gene have been reported to be associated with protein alveolar proteinosis (PAP). [provided by RefSeq, Jul 2008]
CSF3	chr17	40015361	40017813	+	ENSG00000108342.12	protein_coding	C17orf33|CSF3OS|GCSF	17q21.1	colony stimulating factor 3	This gene encodes a member of the IL-6 superfamily of cytokines. The encoded cytokine controls the production, differentiation, and function of granulocytes. Granulocytes are a type of white blood cell that are part of the innate immune response. A modified form of this protein is commonly administered to manage chemotherapy-induced neutropenia. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2020]
CSF3R	chr1	36466043	36483278	-	ENSG00000119535.17	protein_coding	CD114|GCSFR|SCN7	1p34.3	colony stimulating factor 3 receptor	The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]
CSGALNACT1	chr8	19404161	19758029	-	ENSG00000147408.14	protein_coding	CSGalNAcT-1|ChGn|ChGn-1|SDJLABA|beta4GalNAcT	8p21.3	chondroitin sulfate N-acetylgalactosaminyltransferase 1	This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for normal cartilage development and aggrecan metabolism. Mutations in this gene are associated with multiple sclerosis progression, and with mild skeletal dysplasia and joint laxity. [provided by RefSeq, Aug 2017]
CSGALNACT2	chr10	43138486	43185308	+	ENSG00000169826.7	protein_coding	CHGN2|ChGn-2|GALNACT-2|GALNACT2|PRO0082|beta4GalNAcT	10q11.21	chondroitin sulfate N-acetylgalactosaminyltransferase 2	This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. The encoded protein is involved in elongation during chondroitin sulfate synthesis. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome X. [provided by RefSeq, Feb 2016]
CSH2	chr17	63872012	63873766	-	ENSG00000213218.10	protein_coding	CS-2|CSB|GHB1|PL|hCS-B	17q23.3	chorionic somatomammotropin hormone 2	The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones and plays an important role in growth control. The gene is located at the growth hormone locus on chromosome 17 along with four other related genes in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. Alternative splicing generates additional isoforms of each of the five growth hormones. This particular family member is expressed mainly in the placenta and utilizes multiple transcription initiation sites. Expression of the identical mature proteins for chorionic somatomammotropin hormones 1 and 2 is upregulated during development, while the ratio of 1 to 2 increases by term. Structural and expression differences provide avenues for developmental regulation and tissue specificity. [provided by RefSeq, Jul 2008]
CSHL1	chr17	63909597	63918838	-	ENSG00000204414.12	protein_coding	CS-5|CSHP1|CSL|GHB4|hCS-L	17q23.3	chorionic somatomammotropin hormone like 1	The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. This particular family member is expressed in placental villi, although it was originally thought to be a pseudogene. In fact, alternative splicing suggests that the majority of the transcripts would be unable to express a secreted protein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
CSK	chr15	74782057	74803198	+	ENSG00000103653.16	protein_coding	-	15q24.1	C-terminal Src kinase	Broad expression in lymph node (RPKM 63.0), spleen (RPKM 47.7) and 24 other tissues
CSKMT	chr11	 62665312	62668108	+	ENSG00000214756	protein-coding	CS-KMT|METTL12|U99HG	11q12.3	citrate synthase lysine methyltransferase	Ubiquitous expression in ovary (RPKM 1.7), endometrium (RPKM 1.6) and 25 other tissues
CSMD1	chr8	2935353	4994972	-	ENSG00000183117.18	protein_coding	PPP1R24	8p23.2	CUB and Sushi multiple domains 1	Biased expression in brain (RPKM 2.2), testis (RPKM 1.7) and 5 other tissues
CSMD2	chr1	33513999	34165842	-	ENSG00000121904.17	protein_coding	dJ1007G16.1|dJ1007G16.2|dJ947L8.1	1p35.1	CUB and Sushi multiple domains 2	The protein encoded by this gene is thought to be involved in the control of complement cascade of the immune system. Defects in this gene have been associated with schizophrenia. This gene may act as a tumor suppressor for colorectal cancer. [provided by RefSeq, Jan 2020]
CSMD2-AS1	chr1	33868953	33885458	+	ENSG00000231163.5	antisense	-	1p35.1	CSMD2 antisense RNA 1	-
CSNK1A1	chr5	149492197	149551552	-	ENSG00000113712.17	protein_coding	CK1|CK1a|CKIa|HEL-S-77p|HLCDGP1|PRO2975	5q32	casein kinase 1 alpha 1	Enables protein serine/threonine kinase activity. Involved in several processes, including negative regulation of canonical Wnt signaling pathway; peptidyl-serine phosphorylation; and positive regulation of proteasomal ubiquitin-dependent protein catabolic process. Located in centrosome; cytosol; and nuclear speck. Part of beta-catenin destruction complex. Colocalizes with keratin filament and mRNA cleavage and polyadenylation specificity factor complex. Biomarker of Alzheimers disease and inclusion body myositis. [provided by Alliance of Genome Resources, Apr 2022]
CSNK1D	chr17	82239023	82273731	-	ENSG00000141551.14	protein_coding	ASPS|CKI-delta|CKId|CKIdelta|FASPS2|HCKID	17q25.3	casein kinase 1 delta	This gene is a member of the casein kinase I (CKI) gene family whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein may also be involved in the regulation of apoptosis, circadian rhythm, microtubule dynamics, chromosome segregation, and p53-mediated effects on growth. The encoded protein is highly similar to the mouse and rat CK1 delta homologs. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]
CSNK1E	chr22	38290691	38318084	-	ENSG00000213923.11	protein_coding	CKIe|CKIepsilon|HCKIE	22q13.1	casein kinase 1 epsilon	The protein encoded by this gene is a serine/threonine protein kinase and a member of the casein kinase I protein family, whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein is found in the cytoplasm as a monomer and can phosphorylate a variety of proteins, including itself. This protein has been shown to phosphorylate period, a circadian rhythm protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2014]
CSNK1G1	chr15	64165517	64356259	-	ENSG00000169118.17	protein_coding	CK1gamma1	15q22.31	casein kinase 1 gamma 1	This gene encodes a member of the casein kinase I gene family. This family is comprised of serine/threonine kinases that phosphorylate acidic proteins such as caseins. The encoded kinase plays a role in cell cycle checkpoint arrest in response to stalled replication forks by phosphorylating Claspin. A mutation in this gene may be associated with non-syndromic early-onset epilepsy (NSEOE). [provided by RefSeq, Jul 2016]
CSNK1G2	chr19	1941149	1981338	+	ENSG00000133275.15	protein_coding	CK1g2	19p13.3	casein kinase 1 gamma 2	Broad expression in testis (RPKM 21.2), spleen (RPKM 15.0) and 25 other tissues
CSNK1G2-AS1	chr19	1952531	1954586	-	ENSG00000180846.8	antisense	C19orf34	19p13.3	CSNK1G2 antisense RNA 1	Restricted expression toward testis (RPKM 3.9)
CSNK1G2P1	chr9	5040945	5041940	+	ENSG00000234534.1	processed_pseudogene	-	9p24.1	casein kinase 1 gamma 2 pseudogene 1	-
CSNK1G3	chr5	123512099	123617045	+	ENSG00000151292.17	protein_coding	CKI-gamma 3|CSNK1G3L	5q23.2	casein kinase 1 gamma 3	This gene encodes a member of a family of serine/threonine protein kinases that phosphorylate caseins and other acidic proteins. A related protein in the African clawed frog participates in the transmission of Wnt/beta-catenin signaling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
CSNK2A1	chr20	473591	543821	-	ENSG00000101266.17	protein_coding	CK2A1|CKII|Cka1|Cka2|OCNDS	20p13	casein kinase 2 alpha 1	Casein kinase II is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythm. The kinase exists as a tetramer and is composed of an alpha, an alpha-prime, and two beta subunits. The alpha subunits contain the catalytic activity while the beta subunits undergo autophosphorylation. The protein encoded by this gene represents the alpha subunit. Multiple transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Apr 2018]
CSNK2A2	chr16	58157907	58197920	-	ENSG00000070770.8	protein_coding	CK2A2|CK2alpha'|CSNK2A1	16q21	casein kinase 2 alpha 2	This gene encodes the alpha, or alpha 2, catalytic subunit of the protein kinase enzyme, casein kinase 2 (CK2). Casein kinase 2 is a serine/threonine protein kinase that phosphorylates acidic proteins such as casein. It is involved in various cellular processes, including cell cycle control, apoptosis, and circadian rhythms. This heterotetrameric kinase includes two catalytic subunits, either alpha or alpha, and two regulatory beta subunits. The closely related gene paralog encoding the alpha, or alpha 1 subunit (CSNK2A1, Gene ID: 1457) is found on chromosome 20. An intronic variant in this gene (alpha 2) may be associated with leukocyte telomere length in a South Asian population. A related transcribed pseudogene is found on chromosome 11. [provided by RefSeq, Aug 2017]
CSNK2A3	chr11	11351942	11353357	-	ENSG00000254598.2	protein_coding	CSNK2A1P	11p15.4	casein kinase 2 alpha 3	This gene encodes a protein that is highly similar to the casein kinase II alpha protein. Casein kinase II is a serine/threonine protein kinase complex that phosphorylates numerous substrates including casein. The alpha subunit is the catalytic component of the complex. Mutations in this gene may be associated with a susceptibility to lung cancer. There are contradictory views among published reports of this gene as to whether or not it is a protein-coding gene or a processed pseudogene (PMIDs: 20625391, 20625391 and 10094393). [provided by RefSeq, Feb 2012]
CSNK2B	chr6	31665236	31670343	+	ENSG00000204435.13	protein_coding	CK2B|CK2N|CSK2B|Ckb1|Ckb2|G5A|POBINDS	6p21.33	casein kinase 2 beta	This gene encodes the beta subunit of casein kinase II, a ubiquitous protein kinase which regulates metabolic pathways, signal transduction, transcription, translation, and replication. The enzyme is composed of three subunits, alpha, alpha prime and beta, which form a tetrameric holoenzyme. The alpha and alpha prime subunits are catalytic, while the beta subunit serves regulatory functions. The enzyme localizes to the endoplasmic reticulum and the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
CSPG4	chr15	75674322	75712848	-	ENSG00000173546.7	protein_coding	CSPG4A|HMW-MAA|MCSP|MCSPG|MEL-CSPG|MSK16|NG2	15q24.2	chondroitin sulfate proteoglycan 4	A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq, Jul 2008]
CSPG4P10	chr15	82459472	82477258	+	ENSG00000276710.4	transcribed_unprocessed_pseudogene	-	15q25.2	chondroitin sulfate proteoglycan 4 pseudogene 10	-
CSPG4P11	chr15	84186752	84197384	+	ENSG00000259726.1	unprocessed_pseudogene	-	15q25.2	chondroitin sulfate proteoglycan 4 pseudogene 11	-
CSPG4P12	chr15	85191438	85213905	+	ENSG00000259295.6	transcribed_unprocessed_pseudogene	CSPG4P9	15q25.3	chondroitin sulfate proteoglycan 4 pseudogene 12	-
CSPG5	chr3	47562239	47580792	-	ENSG00000114646.9	protein_coding	NGC	3p21.31	chondroitin sulfate proteoglycan 5	The protein encoded by this gene is a proteoglycan that may function as a neural growth and differentiation factor. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
CSRNP1	chr3	39141855	39154562	-	ENSG00000144655.14	protein_coding	AXUD1|CSRNP-1|FAM130B|TAIP-3|URAX1	3p22.2	cysteine and serine rich nuclear protein 1	This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
CSRNP2	chr12	51061205	51083664	-	ENSG00000110925.6	protein_coding	C12orf2|C12orf22|FAM130A1|PPP1R72|TAIP-12	12q13.12	cysteine and serine rich nuclear protein 2	The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activation domain, and bind the sequence AGAGTG, thus have the hallmark of transcription factors. Studies in mice suggest that these genes may have redundant functions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
CSRNP3	chr2	165469647	165689407	+	ENSG00000178662.15	protein_coding	FAM130A2|PPP1R73|TAIP-2|TAIP2	2q24.3	cysteine and serine rich nuclear protein 3	Broad expression in brain (RPKM 7.4), endometrium (RPKM 2.0) and 15 other tissues
CSRP2	chr12	76858715	76879060	-	ENSG00000175183.9	protein_coding	CRP2|LMO5|SmLIM	12q21.2	cysteine and glycine rich protein 2	CSRP2 is a member of the CSRP family of genes, encoding a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. CRP2 contains two copies of the cysteine-rich amino acid sequence motif (LIM) with putative zinc-binding activity, and may be involved in regulating ordered cell growth. Other genes in the family include CSRP1 and CSRP3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
CST2	chr20	23823769	23826731	-	ENSG00000170369.3	protein_coding	-	20p11.21	cystatin SA	Restricted expression toward salivary gland (RPKM 1475.8)
CST3	chr20	23626706	23638473	-	ENSG00000101439.8	protein_coding	ARMD11|HEL-S-2	20p11.21	cystatin C	The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014]
CST4	chr20	23685640	23689040	-	ENSG00000101441.4	protein_coding	-	20p11.21	cystatin S	Restricted expression toward salivary gland (RPKM 5781.4)
CST6	chr11	66011841	66013505	+	ENSG00000175315.2	protein_coding	ECTD15	11q13.1	cystatin E/M	The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. This gene encodes a cystatin from the type 2 family, which is down-regulated in metastatic breast tumor cells as compared to primary tumor cells. Loss of expression is likely associated with the progression of a primary tumor to a metastatic phenotype. [provided by RefSeq, Jul 2008]
CST7	chr20	24949230	24959928	+	ENSG00000077984.5	protein_coding	CMAP	20p11.21	cystatin F	The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. This gene encodes a glycosylated cysteine protease inhibitor with a putative role in immune regulation through inhibition of a unique target in the hematopoietic system. Expression of the protein has been observed in various human cancer cell lines established from malignant tumors. [provided by RefSeq, Jul 2008]
CSTA	chr3	122325244	122341972	+	ENSG00000121552.3	protein_coding	AREI|PSS4|STF1|STFA	3q21.1	cystatin A	The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins, and kininogens. This gene encodes a stefin that functions as a cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H, and L. The protein is one of the precursor proteins of cornified cell envelope in keratinocytes and plays a role in epidermal development and maintenance. Stefins have been proposed as prognostic and diagnostic tools for cancer. [provided by RefSeq, Jul 2008]
CSTB	chr21	43772511	43776445	-	ENSG00000160213.6	protein_coding	CPI-B|CST6|EPM1|EPM1A|PME|STFB|ULD	21q22.3	cystatin B	The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by RefSeq, Jul 2016]
CSTF1	chr20	56392371	56406369	+	ENSG00000101138.11	protein_coding	CstF-50|CstFp50	20q13.2-q13.31	cleavage stimulation factor subunit 1	This gene encodes one of three subunits which combine to form cleavage stimulation factor (CSTF). CSTF is involved in the polyadenylation and 3end cleavage of pre-mRNAs. Similar to mammalian G protein beta subunits, this protein contains transducin-like repeats. Several transcript variants with different 5 UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
CSTF2T	chr10	51695487	51699591	-	ENSG00000177613.8	protein_coding	CstF-64T	10q21.1	cleavage stimulation factor subunit 2 tau variant	-
CSTF3	chr11	33077188	33162371	-	ENSG00000176102.11	protein_coding	CSTF-77	11p13	cleavage stimulation factor subunit 3	The protein encoded by this gene is one of three (including CSTF1 and CSTF2) cleavage stimulation factors that combine to form the cleavage stimulation factor complex (CSTF). This complex is involved in the polyadenylation and 3 end cleavage of pre-mRNAs. The encoded protein functions as a homodimer and interacts directly with both CSTF1 and CSTF2 in the CSTF complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
CT62	chr15	71110244	71115494	-	ENSG00000225362.8	protein_coding	-	15q23	cancer/testis associated 62	-
CTA-14H9.5	chr6	26527063	26527404	+	ENSG00000261353.1	lincRNA	-	-	-	-
CTA-150C2.13	chr22	38921227	38924708	+	ENSG00000235209.1	lincRNA	-	-	-	-
CTA-150C2.20	chr22	39070414	39070671	+	ENSG00000259421.1	unprocessed_pseudogene	-	-	-	-
CTA-212D2.2	chr6	135055033	135060550	+	ENSG00000232876.1	antisense	-	-	-	-
CTA-217C2.2	chr22	45155539	45156011	-	ENSG00000273243.1	lincRNA	-	-	-	-
CTA-223H9.9	chr22	41430934	41431375	+	ENSG00000273424.1	lincRNA	-	-	-	-
CTA-228A9.3	chr22	38090127	38091559	+	ENSG00000272720.1	lincRNA	-	-	-	-
CTA-228A9.4	chr22	38130216	38150612	+	ENSG00000279080.1	antisense	-	-	-	-
CTA-243E7.1	chr22	25052122	25065241	-	ENSG00000279110.1	antisense	-	-	-	-
CTA-250D10.19	chr22	41981304	41982217	-	ENSG00000224883.1	antisense	-	-	-	-
CTA-268H5.14	chr22	45262273	45263585	-	ENSG00000273287.2	lincRNA	-	-	-	-
CTA-276F8.1	chr16	14150833	14153235	+	ENSG00000276564.1	lincRNA	-	-	-	-
CTA-292E10.6	chr22	28800683	28848559	+	ENSG00000226471.6	antisense	-	-	-	-
CTA-292E10.8	chr22	28814914	28815662	+	ENSG00000272858.1	sense_intronic	-	-	-	-
CTA-293F17.1	chr7	20328299	20331747	-	ENSG00000271133.5	antisense	-	-	-	-
CTA-29F11.1	chr22	46761894	46762563	-	ENSG00000260708.1	antisense	-	-	-	-
CTA-313A17.2	chr7	102327256	102329530	-	ENSG00000170409.7	unprocessed_pseudogene	-	-	-	-
CTA-315H11.2	chr7	73609262	73611502	-	ENSG00000274080.1	sense_intronic	-	-	-	-
CTA-331P3.1	chr6	110477907	110479436	+	ENSG00000260188.1	antisense	-	-	-	-
CTA-363E6.7	chr16	19501689	19502286	+	ENSG00000260934.1	antisense	-	-	-	-
CTA-384D8.31	chr22	50546415	50547652	+	ENSG00000226738.1	antisense	-	-	-	-
CTA-384D8.33	chr22	50597152	50597599	+	ENSG00000272940.1	lincRNA	-	-	-	-
CTA-384D8.34	chr22	50542650	50543011	+	ENSG00000273272.1	lincRNA	-	-	-	-
CTA-384D8.36	chr22	50523926	50524780	+	ENSG00000272821.1	antisense	-	-	-	-
CTA-390C10.10	chr22	25476218	25479971	+	ENSG00000272977.1	sense_intronic	-	-	-	-
CTA-397H3.3	chr8	56074592	56075274	+	ENSG00000253603.1	antisense	-	-	-	-
CTA-398F10.2	chr8	8456909	8461337	-	ENSG00000254153.1	lincRNA	-	-	-	-
CTA-722E9.1	chr22	49500568	49501585	+	ENSG00000280224.1	lincRNA	-	-	-	-
CTA-747E2.10	chr22	29099041	29111683	-	ENSG00000226772.1	antisense	-	-	-	-
CTA-941F9.10	chr22	45657019	45680130	+	ENSG00000280383.1	sense_overlapping	-	-	-	-
CTA-963H5.5	chr22	30653877	30654814	-	ENSG00000250318.1	unprocessed_pseudogene	-	-	-	-
CTA-984G1.5	chr22	29260889	29262037	+	ENSG00000237015.1	antisense	-	-	-	-
CTA-989H11.1	chr22	42278188	42278846	+	ENSG00000273366.1	lincRNA	-	-	-	-
CTAGE10P	chr13	49890591	49892998	+	ENSG00000181358.3	processed_pseudogene	-	13q14.2	CTAGE family member 10, pseudogene	-
CTAGE8	chr7	144266701	144269288	-	ENSG00000244693.1	protein_coding	CTAGE4	7q35	CTAGE family member 8	-
CTB-107G13.1	chr7	103445207	103514007	+	ENSG00000234715.1	antisense	-	-	-	-
CTB-109A12.1	chr5	157362615	157460078	-	ENSG00000251405.2	sense_overlapping	-	-	-	-
CTB-111F10.1	chr7	91638847	91643512	-	ENSG00000223665.1	lincRNA	-	-	-	-
CTB-111H14.1	chr7	106372251	106770207	-	ENSG00000243797.6	sense_overlapping	-	-	-	-
CTB-113P19.4	chr5	151652275	151655449	+	ENSG00000260581.1	antisense	-	-	-	-
CTB-11I22.1	chr5	159209921	159248796	+	ENSG00000253256.1	antisense	-	-	-	-
CTB-120L21.1	chr5	157104788	157114900	+	ENSG00000254246.1	antisense	-	-	-	-
CTB-127C13.1	chr5	160195744	160204826	-	ENSG00000247699.2	antisense	-	-	-	-
CTB-129O4.1	chr5	180293245	180295253	+	ENSG00000248367.1	antisense	-	-	-	-
CTB-129P6.11	chr19	44950044	44954007	-	ENSG00000267114.1	lincRNA	-	-	-	-
CTB-129P6.4	chr19	44882027	44890876	-	ENSG00000267282.1	antisense	-	-	-	-
CTB-131B5.5	chr5	140157319	140173051	+	ENSG00000254363.6	processed_transcript	-	-	-	-
CTB-131K11.1	chr17	39401793	39406233	+	ENSG00000266469.1	antisense	-	-	-	-
CTB-133G6.1	chr19	7348943	7383385	+	ENSG00000263264.1	protein_coding	-	-	-	-
CTB-134H23.3	chr16	29053732	29108108	-	ENSG00000260908.1	transcribed_unprocessed_pseudogene	-	-	-	-
CTB-13F3.1	chr7	107942116	107942740	+	ENSG00000273055.1	antisense	-	-	-	-
CTB-140J7.2	chr5	150608428	150615354	-	ENSG00000253852.1	antisense	-	-	-	-
CTB-152G17.6	chr7	105102838	105105483	-	ENSG00000272918.1	antisense	-	-	-	-
CTB-158E9.1	chr5	154483917	154486150	-	ENSG00000254293.1	lincRNA	-	-	-	-
CTB-158E9.2	chr5	154493576	154494743	+	ENSG00000253886.1	processed_pseudogene	-	-	-	-
CTB-171A8.1	chr19	44632199	44718759	-	ENSG00000266903.1	antisense	-	-	-	-
CTB-174O21.2	chr19	46728603	46732700	+	ENSG00000269487.1	antisense	-	-	-	-
CTB-176F20.3	chr19	23323968	23329101	+	ENSG00000267934.1	antisense	-	-	-	-
CTB-179K24.3	chr19	45076510	45090391	-	ENSG00000267348.2	antisense	-	-	-	-
CTB-17P3.4	chr5	151158106	151158462	-	ENSG00000254298.1	lincRNA	-	-	-	-
CTB-30L5.1	chr7	106570947	106598908	-	ENSG00000267052.1	lincRNA	-	7q22.3	uncharacterized CTB-30L5.1	-
CTB-31N19.3	chr16	21626742	21627569	+	ENSG00000261596.2	sense_intronic	-	-	-	-
CTB-31O20.2	chr19	1874871	1876169	-	ENSG00000261526.2	lincRNA	-	-	-	-
CTB-31O20.4	chr19	1822089	1824542	+	ENSG00000267244.5	processed_transcript	-	-	-	-
CTB-31O20.6	chr19	1852382	1853622	+	ENSG00000267125.2	antisense	-	-	-	-
CTB-32H22.1	chr5	173414035	173451165	+	ENSG00000253968.1	lincRNA	-	-	-	-
CTB-33G10.1	chr19	49719498	49720081	-	ENSG00000243829.1	processed_pseudogene	-	-	-	-
CTB-33G10.11	chr19	49625994	49626439	-	ENSG00000268636.1	antisense	-	-	-	-
CTB-33O18.1	chr5	173562478	173573199	+	ENSG00000253768.1	lincRNA	-	-	-	-
CTB-33O18.2	chr5	173574938	173576275	+	ENSG00000254164.1	lincRNA	-	-	-	-
CTB-33O18.3	chr5	173579643	173585068	+	ENSG00000253955.1	antisense	-	-	-	-
CTB-35F21.1	chr5	139684645	139745010	+	ENSG00000249526.1	lincRNA	-	-	-	-
CTB-35F21.3	chr5	139772528	139775406	-	ENSG00000251387.1	lincRNA	-	-	-	-
CTB-36H16.2	chr5	122832356	122834533	+	ENSG00000260686.1	sense_overlapping	-	-	-	-
CTB-39G8.3	chr17	45396932	45397477	+	ENSG00000267344.1	antisense	-	-	-	-
CTB-3M24.1	chr5	133574829	133575298	-	ENSG00000279197.1	TEC	-	-	-	-
CTB-46B19.2	chr5	139012647	139051203	+	ENSG00000249593.6	antisense	-	-	-	-
CTB-47B11.3	chr5	157375741	157384950	-	ENSG00000248544.2	antisense	-	-	-	-
CTB-50L17.10	chr19	4472287	4502211	+	ENSG00000167674.14	protein_coding	-	-	-	-
CTB-50L17.16	chr19	4457962	4471493	-	ENSG00000267011.5	lincRNA	-	-	-	-
CTB-50L17.5	chr19	4429689	4430934	-	ENSG00000267255.1	antisense	-	-	-	-
CTB-50L17.7	chr19	4447304	4448217	+	ENSG00000267030.1	antisense	-	-	-	-
CTB-50L17.8	chr19	4448810	4450836	+	ENSG00000280239.1	TEC	-	-	-	-
CTB-50L17.9	chr19	4454014	4455286	+	ENSG00000267769.1	antisense	-	-	-	-
CTB-52I2.4	chr19	18022403	18032099	+	ENSG00000273654.1	transcribed_processed_pseudogene	-	-	-	-
CTB-52I2.7	chr19	18009440	18009881	-	ENSG00000279172.1	TEC	-	-	-	-
CTB-55O6.12	chr19	14137179	14171267	+	ENSG00000267169.1	antisense	-	-	-	-
CTB-58E17.1	chr17	38702452	38704747	+	ENSG00000277969.1	lincRNA	-	-	-	-
CTB-58E17.3	chr17	38703480	38706261	-	ENSG00000275532.1	antisense	-	-	-	-
CTB-58E17.5	chr17	38749360	38751457	+	ENSG00000277182.1	antisense	-	-	-	-
CTB-5E10.3	chr19	13772118	13774118	-	ENSG00000267633.1	antisense	-	-	-	-
CTB-75G16.1	chr17	36574462	36575325	-	ENSG00000274756.1	processed_pseudogene	-	-	-	-
CTB-75G16.3	chr17	36634069	36634698	+	ENSG00000275720.1	lincRNA	-	-	-	-
CTB-76P12.1	chr5	159484130	159511687	-	ENSG00000283413.1	lincRNA	-	-	-	-
CTB-78H18.1	chr5	171773652	171774739	+	ENSG00000253110.1	lincRNA	-	-	-	-
CTB-79E8.2	chr5	172690454	172697720	-	ENSG00000253445.1	antisense	-	-	-	-
CTB-96E2.3	chr17	28357647	28381697	+	ENSG00000258924.4	processed_transcript	-	-	-	-
CTBP1	chr4	1211448	1249953	-	ENSG00000159692.15	protein_coding	BARS|HADDTS	4p16.3	C-terminal binding protein 1	This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
CTBP1-DT	chr4	 1249440	1253007	+	-	ncRNA	C4orf42|CTBP1-AS1|CTBP1-AS2	4p16.3	CTBP1 divergent transcript	-
CTBP2	chr10	124984317	125161170	-	ENSG00000175029.16	protein_coding	-	10q26.13	C-terminal binding protein 2	Ubiquitous expression in thyroid (RPKM 13.6), endometrium (RPKM 9.4) and 24 other tissues
CTBP2P5	chr2	48915267	48916530	-	ENSG00000214602.3	processed_pseudogene	-	2p16.3	CTBP2 pseudogene 5	-
CTBS	chr1	84549606	84574480	-	ENSG00000117151.12	protein_coding	CTB	1p22.3	chitobiase	Chitobiase is a lysosomal glycosidase involved in degradation of asparagine-linked oligosaccharides on glycoproteins (Aronson and Kuranda, 1989 [PubMed 2531691]).[supplied by OMIM, Nov 2010]
CTC-137K3.1	chr8	132826179	132826903	+	ENSG00000270137.1	sense_intronic	-	-	-	-
CTC-203F4.2	chr5	135399280	135401296	+	ENSG00000270021.1	antisense	-	-	-	-
CTC-205M6.1	chr5	180810401	180811384	+	ENSG00000280161.1	TEC	-	-	-	-
CTC-209H22.3	chr5	173144162	173145039	-	ENSG00000253172.1	antisense	-	-	-	-
CTC-215O4.4	chr19	11010917	11016011	-	ENSG00000266936.1	antisense	-	-	-	-
CTC-235G5.3	chr5	76081946	76084186	-	ENSG00000248127.1	lincRNA	-	-	-	-
CTC-241N9.1	chr5	179859013	179861283	+	ENSG00000245317.2	lincRNA	-	-	-	-
CTC-250I14.6	chr19	13153071	13154193	-	ENSG00000267598.1	antisense	-	-	-	-
CTC-250P20.2	chr5	72996920	72997642	+	ENSG00000251467.1	processed_pseudogene	-	-	-	-
CTC-264K15.6	chr17	63972920	63989422	-	ENSG00000263489.1	lincRNA	-	-	-	-
CTC-265F19.2	chr19	2610155	2611862	-	ENSG00000267412.1	sense_intronic	-	-	-	-
CTC-276P9.3	chr5	135124380	135131249	-	ENSG00000248482.1	lincRNA	-	-	-	-
CTC-276P9.4	chr5	135034521	135035894	+	ENSG00000277619.1	antisense	-	-	-	-
CTC-277H1.6	chr16	67205175	67206849	-	ENSG00000280163.1	TEC	-	-	-	-
CTC-281F24.5	chr17	6636780	6640316	-	ENSG00000282936.1	protein_coding	-	-	-	-
CTC-296K1.3	chr17	44793199	44794474	+	ENSG00000267505.1	lincRNA	-	-	-	-
CTC-305H11.1	chr5	13175846	13179572	+	ENSG00000248145.1	lincRNA	-	-	-	-
CTC-325J23.2	chr5	80630313	80631590	-	ENSG00000249655.1	antisense	-	-	-	-
CTC-327F10.5	chr5	147886086	147886878	-	ENSG00000248362.1	antisense	-	-	-	-
CTC-329D1.2	chr5	140370891	140401367	-	ENSG00000249637.1	antisense	-	-	-	-
CTC-329D1.3	chr5	140348484	140357794	-	ENSG00000253965.1	antisense	-	-	-	-
CTC-332L22.1	chr5	109687802	109688329	-	ENSG00000271849.1	lincRNA	-	-	-	-
CTC-336P14.1	chr2	32013061	32013368	+	ENSG00000271228.1	antisense	-	-	-	-
CTC-338M12.1	chr5	181205361	181206120	-	ENSG00000248514.1	antisense	-	-	-	-
CTC-338M12.13	chr5	181291673	181295572	+	ENSG00000274525.1	unprocessed_pseudogene	-	-	-	-
CTC-338M12.4	chr5	181246523	181272167	+	ENSG00000233937.6	processed_transcript	-	5q35.3	uncharacterized LOC101928649	-
CTC-338M12.5	chr5	181191924	181194429	+	ENSG00000250222.1	antisense	-	-	-	-
CTC-338M12.6	chr5	181195496	181203103	+	ENSG00000250900.6	antisense	-	-	-	-
CTC-351M12.1	chr5	69186359	69189452	-	ENSG00000280187.1	TEC	-	-	-	-
CTC-360G5.9	chr19	38935297	38938632	-	ENSG00000269486.2	lincRNA	-	-	-	-
CTC-366B18.2	chr5	75598482	75599380	-	ENSG00000248881.1	antisense	-	-	-	-
CTC-366B18.4	chr5	75608817	75609983	+	ENSG00000272040.1	lincRNA	-	-	-	-
CTC-370J7.1	chr5	157747504	157747707	-	ENSG00000253630.1	unprocessed_pseudogene	-	-	-	-
CTC-378H22.1	chr19	42132555	42137099	+	ENSG00000254887.1	processed_transcript	-	-	-	-
CTC-378H22.2	chr19	42152569	42157523	+	ENSG00000259436.1	antisense	-	-	-	-
CTC-412M14.5	chr19	19708965	19710465	+	ENSG00000270402.1	processed_pseudogene	-	-	-	-
CTC-425F1.4	chr19	12944118	12944487	-	ENSG00000267458.1	antisense	-	-	-	-
CTC-425O23.2	chr19	40273489	40275479	-	ENSG00000205041.1	sense_intronic	-	-	-	-
CTC-428G20.1	chr5	115264669	115265464	-	ENSG00000243304.3	processed_pseudogene	-	-	-	-
CTC-429L19.3	chr19	10490339	10491000	-	ENSG00000267197.1	sense_intronic	-	-	-	-
CTC-429P9.1	chr19	16630743	16643942	+	ENSG00000269427.1	antisense	-	-	-	-
CTC-429P9.2	chr19	16610411	16636531	+	ENSG00000268087.1	lincRNA	-	-	-	-
CTC-429P9.3	chr19	16633797	16635269	-	ENSG00000269044.2	sense_intronic	-	-	-	-
CTC-435M10.10	chr19	41399372	41400365	+	ENSG00000268987.1	sense_intronic	-	-	-	-
CTC-435M10.12	chr19	41373971	41374419	+	ENSG00000277744.1	sense_intronic	-	-	-	-
CTC-435M10.6	chr19	41425359	41426237	+	ENSG00000268475.1	antisense	-	-	-	-
CTC-436P18.4	chr5	61114432	61116753	-	ENSG00000279985.1	TEC	-	-	-	-
CTC-436P18.5	chr5	61145846	61146376	-	ENSG00000276945.1	unprocessed_pseudogene	-	-	-	-
CTC-441N14.2	chr5	122128762	122154856	-	ENSG00000247311.2	antisense	-	-	-	-
CTC-444N24.13	chr19	57350848	57352012	-	ENSG00000268678.1	antisense	-	-	-	-
CTC-448F2.6	chr19	30037423	30038156	+	ENSG00000266910.1	processed_pseudogene	-	-	-	-
CTC-453G23.5	chr19	48118432	48127706	+	ENSG00000269534.5	antisense	-	-	-	-
CTC-455F18.3	chr5	170896929	170904461	+	ENSG00000253966.1	processed_pseudogene	-	-	-	-
CTC-457E21.1	chr19	22520995	22527949	-	ENSG00000260599.1	sense_intronic	-	-	-	-
CTC-457L16.1	chr17	19030857	19033529	+	ENSG00000279825.1	TEC	-	-	-	-
CTC-457L16.2	chr17	19141017	19143689	-	ENSG00000262319.1	antisense	-	-	-	-
CTC-459F4.1	chr19	27757184	27760849	-	ENSG00000261770.1	lincRNA	-	-	-	-
CTC-459F4.3	chr19	27793463	27918863	+	ENSG00000267575.6	lincRNA	-	-	-	-
CTC-459M5.1	chr5	112173570	112175548	+	ENSG00000250882.1	antisense	-	-	-	-
CTC-463A16.1	chr5	142165767	142168387	+	ENSG00000280047.1	TEC	-	-	-	-
CTC-465D4.1	chr12	20120980	20129813	-	ENSG00000256499.1	lincRNA	-	-	-	-
CTC-467M3.3	chr5	88692645	88693972	-	ENSG00000250377.1	lincRNA	-	-	-	-
CTC-471J1.11	chr19	52049007	52049754	+	ENSG00000275055.1	antisense	-	-	-	-
CTC-482H14.5	chr19	5178119	5178464	+	ENSG00000267550.1	antisense	-	-	-	-
CTC-487M23.5	chr5	112893333	112894001	+	ENSG00000270067.1	antisense	-	-	-	-
CTC-487M23.7	chr5	112898023	112898371	+	ENSG00000272389.1	antisense	-	-	-	-
CTC-490E21.10	chr19	40831221	40837210	-	ENSG00000269843.1	lincRNA	-	-	-	-
CTC-490E21.11	chr19	40840159	40842039	+	ENSG00000279108.1	TEC	-	-	-	-
CTC-490E21.12	chr19	40801297	40898282	+	ENSG00000268797.1	protein_coding	-	-	-	-
CTC-490E21.14	chr19	40779780	40796943	-	ENSG00000282951.1	antisense	-	-	-	-
CTC-490G23.2	chr19	43329295	43331430	-	ENSG00000231412.2	lincRNA	-	-	-	-
CTC-492K19.4	chr19	40443436	40444087	+	ENSG00000268366.1	antisense	-	-	-	-
CTC-492K19.7	chr19	40426115	40426702	+	ENSG00000277453.1	lincRNA	-	-	-	-
CTC-498J12.1	chr5	69038518	69043821	-	ENSG00000250237.1	lincRNA	-	-	-	-
CTC-498M16.4	chr5	88433892	88498697	-	ENSG00000271904.1	lincRNA	-	-	-	-
CTC-499B15.7	chr19	11796084	11798598	-	ENSG00000267646.1	antisense	-	-	-	-
CTC-499B15.8	chr19	11841241	11842439	-	ENSG00000267089.1	lincRNA	-	-	-	-
CTC-505O3.2	chr5	115755644	115756286	+	ENSG00000248709.1	lincRNA	-	-	-	-
CTC-506B8.1	chr5	96741079	96742698	-	ENSG00000249180.1	antisense	-	-	-	-
CTC-507E2.2	chr17	35596904	35597128	-	ENSG00000267592.1	processed_pseudogene	-	-	-	-
CTC-510F12.2	chr19	11203628	11216168	+	ENSG00000267082.1	antisense	-	-	-	-
CTC-510F12.4	chr19	11300777	11324441	-	ENSG00000267174.5	3prime_overlapping_ncRNA	-	-	-	-
CTC-510F12.7	chr19	11221083	11221573	+	ENSG00000273733.1	antisense	-	-	-	-
CTC-518P12.6	chr19	4838332	4838907	+	ENSG00000267484.1	antisense	-	-	-	-
CTC-523E23.3	chr19	34949038	34951205	-	ENSG00000280106.1	TEC	-	-	-	-
CTC-524C5.2	chr17	5425139	5432876	-	ENSG00000263272.1	antisense	-	-	-	-
CTC-527H23.3	chr16	48637143	48638719	+	ENSG00000260052.1	lincRNA	-	-	-	-
CTC-529I10.1	chr17	16023323	16023653	-	ENSG00000275413.1	antisense	-	-	-	-
CTC-529I10.2	chr17	16040472	16041273	+	ENSG00000227782.2	antisense	-	-	-	-
CTC-529P8.1	chr5	149063317	149109787	+	ENSG00000250072.5	lincRNA	-	-	-	-
CTC-537E7.2	chr5	68531690	68533530	-	ENSG00000248359.1	lincRNA	-	-	-	-
CTC-539A10.7	chr19	10598001	10598965	-	ENSG00000271010.1	processed_pseudogene	-	-	-	-
CTC-542B22.2	chr17	31873926	31886666	+	ENSG00000263990.1	lincRNA	-	-	-	-
CTC-543D15.8	chr19	9538733	9539734	+	ENSG00000278611.1	lincRNA	-	-	-	-
CTC-548K16.5	chr19	14402717	14408723	-	ENSG00000267379.1	antisense	-	-	-	-
CTC-551A13.1	chr5	110970951	111008899	-	ENSG00000248428.1	lincRNA	-	-	-	-
CTC-559E9.12	chr19	19740884	19750127	+	ENSG00000275540.1	unprocessed_pseudogene	-	-	-	-
CTC-559E9.5	chr19	19788755	19790531	-	ENSG00000267481.1	sense_intronic	-	-	-	-
CTC-559E9.6	chr19	19776602	19836073	+	ENSG00000267419.2	transcribed_unprocessed_pseudogene	-	-	-	-
CTC-559E9.8	chr19	19892433	19895847	-	ENSG00000267565.1	antisense	-	-	-	-
CTC-559E9.9	chr19	19750618	19752544	+	ENSG00000271499.1	processed_pseudogene	-	-	-	-
CTC-575N7.1	chr5	129500361	129905917	-	ENSG00000251680.5	antisense	-	-	-	-
CTC-756D1.1	chr8	23483016	23483534	-	ENSG00000253483.1	processed_pseudogene	-	-	-	-
CTC-756D1.2	chr8	23458601	23484971	+	ENSG00000253390.1	lincRNA	-	-	-	-
CTC-756D1.3	chr8	23493009	23494198	-	ENSG00000253986.1	lincRNA	-	-	-	-
CTC1	chr17	8224821	8248044	-	ENSG00000178971.13	protein_coding	AAF-132|AAF132|C17orf68|CRMCC|tmp494178	17p13.1	CST telomere replication complex component 1	This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]
CTCF	chr16	67562407	67639183	+	ENSG00000102974.14	protein_coding	CFAP108|FAP108|MRD21	16q22.1	CCCTC-binding factor	This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA target sequences and proteins. Depending upon the context of the site, the protein can bind a histone acetyltransferase (HAT)-containing complex and function as a transcriptional activator or bind a histone deacetylase (HDAC)-containing complex and function as a transcriptional repressor. If the protein is bound to a transcriptional insulator element, it can block communication between enhancers and upstream promoters, thereby regulating imprinted expression. Mutations in this gene have been associated with invasive breast cancers, prostate cancers, and Wilms tumors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
CTD-2001J20.1	chr19	30553956	30558058	+	ENSG00000280061.1	TEC	-	-	-	-
CTD-2002J20.1	chr3	196474801	196475394	+	ENSG00000273013.1	antisense	-	-	-	-
CTD-2005H7.2	chr11	86727355	86765265	+	ENSG00000255250.1	lincRNA	-	-	-	-
CTD-2006C1.2	chr19	11987617	12046275	+	ENSG00000219665.8	processed_transcript	-	-	-	-
CTD-2006K23.1	chr17	74599840	74607229	+	ENSG00000261222.2	lincRNA	-	-	-	-
CTD-2006K23.2	chr17	74672712	74677600	-	ENSG00000264659.1	antisense	-	-	-	-
CTD-2007H13.1	chr5	98954394	98954972	+	ENSG00000241597.2	processed_pseudogene	-	-	-	-
CTD-2007L18.5	chr11	68612899	68616711	-	ENSG00000260808.1	lincRNA	-	-	-	-
CTD-2008E3.1	chr5	31558573	31559875	+	ENSG00000279923.1	TEC	-	-	-	-
CTD-2008L17.2	chr18	56003613	56191262	-	ENSG00000206129.3	lincRNA	-	-	-	-
CTD-2008P7.8	chr17	28246454	28248006	-	ENSG00000266830.1	lincRNA	-	-	-	-
CTD-2012K14.8	chr16	67517862	67528675	-	ENSG00000276075.1	antisense	-	-	-	-
CTD-2013N17.1	chr19	16412684	16413576	+	ENSG00000240418.1	processed_pseudogene	-	-	-	-
CTD-2013N17.6	chr19	16356329	16358327	-	ENSG00000280332.1	TEC	-	-	-	-
CTD-2014E2.7	chr16	31566360	31567000	-	ENSG00000278885.1	TEC	-	-	-	-
CTD-2015C24.1	chr2	104706612	104707506	+	ENSG00000279904.1	TEC	-	-	-	-
CTD-2015H6.3	chr5	80482293	80488063	-	ENSG00000249042.5	antisense	-	-	-	-
CTD-2017C7.1	chr14	101833435	101839531	-	ENSG00000256705.3	antisense	-	-	-	-
CTD-2017C7.2	chr14	101796555	101810321	-	ENSG00000259088.1	antisense	-	-	-	-
CTD-2020K17.1	chr17	45190931	45222222	-	ENSG00000267121.5	antisense	-	-	-	-
CTD-2020K17.3	chr17	45238028	45241734	-	ENSG00000233175.2	antisense	-	-	-	-
CTD-2020K17.4	chr17	45245186	45248836	-	ENSG00000233483.2	antisense	-	-	-	-
CTD-2021H9.1	chr12	71007773	71032083	-	ENSG00000257265.1	lincRNA	-	-	-	-
CTD-2021H9.2	chr12	71034122	71104526	-	ENSG00000257454.1	lincRNA	-	-	-	-
CTD-2021H9.3	chr12	71047402	71118247	-	ENSG00000258053.1	lincRNA	-	-	-	-
CTD-2021J15.1	chr3	98902424	99018562	+	ENSG00000239462.1	antisense	-	-	-	-
CTD-2024P10.1	chr5	34656412	34657250	-	ENSG00000250234.1	antisense	-	-	-	-
CTD-2024P10.2	chr5	34651457	34651888	-	ENSG00000271874.1	lincRNA	-	-	-	-
CTD-2026D20.2	chr17	47409322	47423526	-	ENSG00000253347.1	antisense	-	-	-	-
CTD-2026G22.1	chr11	49305714	49379669	+	ENSG00000255532.1	transcribed_unprocessed_pseudogene	-	-	-	-
CTD-2026K11.4	chr15	75639760	75640976	+	ENSG00000275454.1	antisense	-	-	-	-
CTD-2026K11.5	chr15	75645020	75645442	+	ENSG00000274515.1	antisense	-	-	-	-
CTD-2031P19.4	chr5	55944656	55944733	+	ENSG00000264281.3	processed_pseudogene	-	-	-	-
CTD-2031P19.5	chr5	55936143	55941727	+	ENSG00000262211.1	antisense	-	-	-	-
CTD-2033A16.2	chr16	69756536	69757937	-	ENSG00000260290.2	processed_pseudogene	-	-	-	-
CTD-2033A16.3	chr16	69727013	69742563	+	ENSG00000262136.1	antisense	-	-	-	-
CTD-2033D15.2	chr15	39586561	39587293	+	ENSG00000276107.1	sense_intronic	-	-	-	-
CTD-2033D15.3	chr15	39588357	39588882	-	ENSG00000278621.1	antisense	-	-	-	-
CTD-2035E11.3	chr5	43018429	43024247	+	ENSG00000251131.1	antisense	-	-	-	-
CTD-2035E11.4	chr5	43033716	43034635	+	ENSG00000272382.1	lincRNA	-	-	-	-
CTD-2035E11.5	chr5	43061395	43062441	+	ENSG00000272144.1	lincRNA	-	-	-	-
CTD-2036J7.1	chr8	22389865	22390655	-	ENSG00000241026.1	unprocessed_pseudogene	-	-	-	-
CTD-2050N2.1	chr15	47359430	47396732	-	ENSG00000259221.5	antisense	-	-	-	-
CTD-2054N24.2	chr15	99807023	99877148	+	ENSG00000259363.5	lincRNA	-	-	-	-
CTD-2062F14.3	chr14	100538939	100540409	+	ENSG00000259031.1	lincRNA	-	-	-	-
CTD-2066L21.3	chr5	32925639	33297910	-	ENSG00000250697.1	lincRNA	-	-	-	-
CTD-2071N1.1	chr15	77787193	77788674	+	ENSG00000259213.1	antisense	-	-	-	-
CTD-2071N1.2	chr15	77784610	77785070	-	ENSG00000280359.1	TEC	-	-	-	-
CTD-2083E4.5	chr5	288833	290321	-	ENSG00000250848.1	processed_pseudogene	-	-	-	-
CTD-2083E4.6	chr5	269858	271516	-	ENSG00000248925.1	antisense	-	-	-	-
CTD-2083E4.7	chr5	195778	196341	+	ENSG00000261434.1	sense_overlapping	-	-	-	-
CTD-2085J24.5	chr19	32824142	32824505	-	ENSG00000267245.1	processed_pseudogene	-	-	-	-
CTD-2086O20.1	chr19	37401404	37403846	-	ENSG00000279936.1	TEC	-	-	-	-
CTD-2091N23.1	chr5	93019663	93068669	-	ENSG00000251361.1	lincRNA	-	-	-	-
CTD-2095E4.3	chr17	32159311	32160371	+	ENSG00000280033.1	TEC	-	-	-	-
CTD-2095E4.4	chr17	32178946	32180074	-	ENSG00000280020.1	TEC	-	-	-	-
CTD-2095E4.5	chr17	32127595	32128454	+	ENSG00000277511.1	lincRNA	-	-	-	-
CTD-2114J12.1	chr8	91157285	91158748	+	ENSG00000253525.1	processed_pseudogene	-	-	-	-
CTD-2124B8.2	chr5	37286449	37286977	-	ENSG00000270558.1	processed_pseudogene	-	-	-	-
CTD-2130F23.1	chr5	37953402	37966964	+	ENSG00000248533.1	lincRNA	-	-	-	-
CTD-2132N18.2	chr17	42038232	42050614	-	ENSG00000267221.2	protein_coding	-	-	-	-
CTD-2134A5.4	chr14	103854366	103880111	-	ENSG00000258534.1	lincRNA	-	-	-	-
CTD-2135J3.3	chr8	10729314	10771392	+	ENSG00000248896.2	antisense	-	-	-	-
CTD-2158P22.1	chr5	119547131	119547606	-	ENSG00000213663.4	processed_pseudogene	-	-	-	-
CTD-2161E19.1	chr5	86884231	86884881	-	ENSG00000242477.1	processed_pseudogene	-	-	-	-
CTD-2162K18.3	chr19	36773712	36775908	-	ENSG00000267353.1	lincRNA	-	-	-	-
CTD-2162K18.4	chr19	36773153	36777078	+	ENSG00000267260.1	lincRNA	-	-	-	-
CTD-2165H16.4	chr5	14661808	14664604	-	ENSG00000261360.1	antisense	-	-	-	-
CTD-2175A23.1	chr5	52932419	52990278	-	ENSG00000249899.5	antisense	-	-	-	-
CTD-2179L22.1	chr5	78041879	78044138	-	ENSG00000253558.1	transcribed_processed_pseudogene	-	-	-	-
CTD-2184C24.2	chr14	60240121	60248765	-	ENSG00000254718.6	antisense	-	-	-	-
CTD-2184D3.1	chr15	52095295	52095747	+	ENSG00000242327.1	processed_pseudogene	-	-	-	-
CTD-2192J16.11	chr19	12552597	12553644	+	ENSG00000230310.1	lincRNA	-	-	-	-
CTD-2194A8.2	chr16	20440266	20447000	-	ENSG00000262995.1	antisense	-	-	-	-
CTD-2194D22.3	chr5	1883966	1884649	+	ENSG00000249116.1	antisense	-	-	-	-
CTD-2194F4.2	chr5	65209921	65210948	+	ENSG00000248288.1	processed_pseudogene	-	-	-	-
CTD-2200P10.1	chr17	58660424	58692018	-	ENSG00000266826.2	protein_coding	-	-	-	-
CTD-2201E18.3	chr5	43014414	43067419	-	ENSG00000177738.3	sense_overlapping	-	-	-	-
CTD-2201E18.5	chr5	43006733	43007543	-	ENSG00000271788.1	lincRNA	-	-	-	-
CTD-2201G16.1	chr14	23415339	23415686	+	ENSG00000258444.1	antisense	-	-	-	-
CTD-2203K17.1	chr5	33424025	33440619	-	ENSG00000249572.1	antisense	-	-	-	-
CTD-2210P24.2	chr11	45733994	45735766	-	ENSG00000255426.1	lincRNA	-	-	-	-
CTD-2210P24.6	chr11	45813219	45825258	+	ENSG00000255447.1	lincRNA	-	-	-	-
CTD-2227C6.2	chr5	83012285	83013109	-	ENSG00000249664.1	lincRNA	-	-	-	-
CTD-2227E11.1	chr7	25948657	25949403	-	ENSG00000270933.1	lincRNA	-	-	-	-
CTD-2228K2.1	chr5	418703	419109	+	ENSG00000250645.1	processed_pseudogene	-	-	-	-
CTD-2228K2.2	chr5	403731	404546	-	ENSG00000214278.4	processed_pseudogene	-	-	-	-
CTD-2228K2.7	chr5	473236	480884	+	ENSG00000225138.7	processed_transcript	-	-	-	-
CTD-2231E14.2	chr19	16074293	16077395	-	ENSG00000279198.1	TEC	-	-	-	-
CTD-2231E14.8	chr19	16123661	16139892	-	ENSG00000269243.1	antisense	-	-	-	-
CTD-2235C13.1	chr5	75374463	75374809	+	ENSG00000242198.1	processed_pseudogene	-	-	-	-
CTD-2235C13.2	chr5	75320155	75336914	-	ENSG00000247372.2	antisense	-	-	-	-
CTD-2235C13.3	chr5	75363760	75364242	+	ENSG00000271815.1	lincRNA	-	-	-	-
CTD-2236F14.1	chr5	76606608	76608970	-	ENSG00000249713.1	antisense	-	-	-	-
CTD-2240E14.4	chr19	10089032	10090377	-	ENSG00000267387.1	antisense	-	-	-	-
CTD-2243E23.1	chr14	79072132	79074767	-	ENSG00000258829.1	antisense	-	-	-	-
CTD-2245E15.3	chr5	1544107	1551710	-	ENSG00000251532.1	lincRNA	-	-	-	-
CTD-2248H3.1	chr5	81242330	81242599	-	ENSG00000248794.1	processed_pseudogene	-	-	-	-
CTD-2249K22.1	chr5	81851601	81852201	+	ENSG00000249483.1	lincRNA	-	-	-	-
CTD-2251F13.1	chr14	29952397	30297043	-	ENSG00000248975.2	lincRNA	-	-	-	-
CTD-2252P21.1	chr2	143766620	143776073	-	ENSG00000257226.1	antisense	-	-	-	-
CTD-2256P15.1	chr5	10248325	10249915	+	ENSG00000248968.1	antisense	-	-	-	-
CTD-2260A17.1	chr5	96784777	96785999	+	ENSG00000248734.2	antisense	-	-	-	-
CTD-2260A17.2	chr5	96814028	96935809	-	ENSG00000247121.6	antisense	-	-	-	-
CTD-2260A17.3	chr5	96804353	96806105	+	ENSG00000272109.1	antisense	-	-	-	-
CTD-2262B20.1	chr15	85415228	85415633	+	ENSG00000259630.2	transcribed_processed_pseudogene	-	-	-	-
CTD-2265D6.2	chr5	42466893	42468300	-	ENSG00000250860.1	processed_pseudogene	-	-	-	-
CTD-2265O21.3	chr19	12825711	12832983	+	ENSG00000267424.1	antisense	-	-	-	-
CTD-2265O21.7	chr19	12880969	12884088	+	ENSG00000267735.1	antisense	-	-	-	-
CTD-2267D19.3	chr17	40360655	40364693	+	ENSG00000266208.1	antisense	-	-	-	-
CTD-2270N23.1	chr15	47730144	47730935	-	ENSG00000213862.4	processed_pseudogene	-	-	-	-
CTD-2270P14.5	chr16	2777319	2780568	+	ENSG00000276791.1	lincRNA	-	-	-	-
CTD-2280E9.1	chr5	122369762	122383568	-	ENSG00000249916.1	antisense	-	-	-	-
CTD-2283N19.1	chr5	148430159	148430807	-	ENSG00000251330.3	antisense	-	-	-	-
CTD-2284J15.1	chr8	86333274	86343314	-	ENSG00000254231.1	processed_transcript	-	-	-	-
CTD-2286N8.2	chr18	79117207	79117920	+	ENSG00000267655.1	sense_intronic	-	-	-	-
CTD-2288O8.1	chr5	52675193	52788026	-	ENSG00000248898.1	antisense	-	-	-	-
CTD-2292M16.8	chr14	20260480	20264308	-	ENSG00000258768.2	lincRNA	-	-	-	-
CTD-2292P10.2	chr8	142727283	142727690	-	ENSG00000253806.1	antisense	-	-	-	-
CTD-2292P10.4	chr8	142702252	142726973	-	ENSG00000253741.1	antisense	-	-	-	-
CTD-2293H3.1	chr19	37091341	37092564	+	ENSG00000267672.1	sense_intronic	-	-	-	-
CTD-2298J14.2	chr14	41587861	41604856	-	ENSG00000258636.1	lincRNA	-	-	-	-
CTD-2299I21.1	chr5	79000112	79001124	-	ENSG00000214890.3	processed_pseudogene	-	-	-	-
CTD-2301A4.3	chr5	177264766	177265241	+	ENSG00000240729.1	processed_pseudogene	-	-	-	-
CTD-2302E22.5	chr14	63594031	63595291	-	ENSG00000270878.1	processed_pseudogene	-	-	-	-
CTD-2303H24.2	chr17	18511221	18551705	-	ENSG00000273018.5	processed_transcript	-	-	-	-
CTD-2310F14.1	chr5	56927874	56929573	+	ENSG00000271828.1	antisense	-	-	-	-
CTD-2311M21.2	chr15	74350768	74364620	+	ENSG00000260266.1	transcribed_processed_pseudogene	-	-	-	-
CTD-2311M21.3	chr15	74365435	74371211	+	ENSG00000261821.2	antisense	-	-	-	-
CTD-2311M21.4	chr15	74374678	74375511	+	ENSG00000274937.1	lincRNA	-	-	-	-
CTD-2313F11.1	chr5	55021299	55042844	-	ENSG00000240535.8	processed_transcript	-	-	-	-
CTD-2315E11.1	chr15	90102649	90133445	+	ENSG00000259685.2	lincRNA	-	-	-	-
CTD-2318O12.1	chr12	9415641	9416718	+	ENSG00000278635.1	unprocessed_pseudogene	-	-	-	-
CTD-2319I12.10	chr17	60101759	60102919	-	ENSG00000280852.2	transcribed_processed_pseudogene	-	-	-	-
CTD-2319I12.2	chr17	60079309	60088695	+	ENSG00000267416.1	lincRNA	-	-	-	-
CTD-2319I12.4	chr17	60126535	60135644	-	ENSG00000267248.1	processed_transcript	-	-	-	-
CTD-2319I12.5	chr17	60135762	60140081	-	ENSG00000267095.1	lincRNA	-	-	-	-
CTD-2323K18.1	chr15	75527150	75601205	-	ENSG00000260269.5	processed_transcript	-	-	-	-
CTD-2325A15.3	chr5	42892319	42892817	-	ENSG00000249092.1	processed_pseudogene	-	-	-	-
CTD-2325A15.5	chr5	42806394	42806997	+	ENSG00000272234.1	antisense	-	-	-	-
CTD-2325P2.3	chr14	68683411	68685565	-	ENSG00000258623.1	antisense	-	-	-	-
CTD-2330K9.2	chr3	49899302	49903757	+	ENSG00000230698.1	antisense	-	-	-	-
CTD-2330K9.3	chr3	49903845	49916937	+	ENSG00000228008.1	antisense	-	-	-	-
CTD-2334D19.1	chr5	120781218	120790778	+	ENSG00000248927.1	lincRNA	-	-	-	-
CTD-2335A18.2	chr15	89358841	89360377	+	ENSG00000279708.1	TEC	-	-	-	-
CTD-2336O2.1	chr8	1761990	1764502	-	ENSG00000253982.1	antisense	-	-	-	-
CTD-2336O2.3	chr8	1758208	1760447	-	ENSG00000282021.1	lincRNA	-	-	-	-
CTD-2337A12.1	chr5	95962001	96631085	+	ENSG00000251314.2	antisense	-	-	-	-
CTD-2337I7.1	chr11	79092848	79098003	+	ENSG00000255345.1	lincRNA	-	-	-	-
CTD-2340D6.2	chr8	99091738	99094060	-	ENSG00000253562.1	antisense	-	-	-	-
CTD-2342N23.1	chr8	134764809	134767276	+	ENSG00000278898.1	TEC	-	-	-	-
CTD-2349P21.1	chr17	30830901	30831318	+	ENSG00000242439.1	processed_pseudogene	-	-	-	-
CTD-2349P21.10	chr17	30781493	30782221	-	ENSG00000265791.1	sense_intronic	-	-	-	-
CTD-2349P21.12	chr17	30803654	30804077	+	ENSG00000276250.1	antisense	-	-	-	-
CTD-2349P21.5	chr17	30729469	30731202	+	ENSG00000263603.1	lincRNA	-	-	-	-
CTD-2349P21.6	chr17	30726305	30727564	-	ENSG00000265443.1	lincRNA	-	-	-	-
CTD-2349P21.9	chr17	30792372	30792833	+	ENSG00000266490.1	lincRNA	-	-	-	-
CTD-2350C19.2	chr17	28405240	28406796	+	ENSG00000265254.1	antisense	-	-	-	-
CTD-2353F22.1	chr5	36666214	36725195	-	ENSG00000250155.1	antisense	-	-	-	-
CTD-2353F22.2	chr5	36667717	36669958	+	ENSG00000279400.1	TEC	-	-	-	-
CTD-2366F13.2	chr5	53089016	53089468	-	ENSG00000272123.1	antisense	-	-	-	-
CTD-2368P22.1	chr19	58002061	58011232	+	ENSG00000176593.7	processed_transcript	-	-	-	-
CTD-2369P2.5	chr19	10252268	10285108	-	ENSG00000266978.1	antisense	-	-	-	-
CTD-2369P2.8	chr19	10285801	10289019	-	ENSG00000267607.1	antisense	-	-	-	-
CTD-2373H9.5	chr17	78903263	78905024	+	ENSG00000267491.1	antisense	-	-	-	-
CTD-2373N4.3	chr8	30552345	30553766	+	ENSG00000279041.1	TEC	-	-	-	-
CTD-2375G15.1	chr5	65415353	65416222	+	ENSG00000205644.5	processed_pseudogene	-	-	-	-
CTD-2376I4.1	chr5	72953635	72954274	-	ENSG00000271926.1	lincRNA	-	-	-	-
CTD-2376I4.2	chr5	72955206	72955699	-	ENSG00000272081.1	lincRNA	-	-	-	-
CTD-2377O17.1	chr5	74865893	74867854	+	ENSG00000271714.1	antisense	-	-	-	-
CTD-2378E12.1	chr15	50839875	50908599	-	ENSG00000273674.4	lincRNA	-	-	-	-
CTD-2380F24.1	chr16	19761172	19766099	-	ENSG00000261195.1	antisense	-	-	-	-
CTD-2382E5.6	chr15	41908204	41908714	-	ENSG00000278493.1	sense_intronic	-	-	-	-
CTD-2383M3.1	chr11	100684162	100687955	-	ENSG00000248027.1	antisense	-	-	-	-
CTD-2384B11.2	chr5	76691439	76716215	-	ENSG00000225407.3	antisense	-	-	-	-
CTD-2384B9.1	chr11	47041027	47041945	-	ENSG00000271350.1	processed_pseudogene	-	-	-	-
CTD-2385L22.2	chr16	23753689	23755939	-	ENSG00000279756.1	TEC	-	-	-	-
CTD-2410N18.4	chr5	134205614	134371044	-	ENSG00000273345.5	processed_transcript	-	-	-	-
CTD-2501B8.5	chr17	63471604	63472093	+	ENSG00000228979.4	processed_pseudogene	-	-	-	-
CTD-2506J14.1	chr14	97458816	97581601	+	ENSG00000246084.2	lincRNA	-	-	-	-
CTD-2509G16.2	chr14	65212893	65222347	-	ENSG00000255002.1	lincRNA	-	-	-	-
CTD-2510F5.4	chr17	59202677	59203829	-	ENSG00000265415.1	antisense	-	-	-	-
CTD-2514C3.1	chr20	26018832	26020684	+	ENSG00000204556.4	unprocessed_pseudogene	-	-	-	-
CTD-2515A14.1	chr16	24803451	24819739	-	ENSG00000261669.1	antisense	-	-	-	-
CTD-2516K3.3	chr5	57317989	57320020	-	ENSG00000248586.2	processed_pseudogene	-	-	-	-
CTD-2517M22.14	chr8	144495458	144505444	-	ENSG00000255182.2	processed_transcript	-	-	-	-
CTD-2521M24.13	chr19	17390509	17394158	-	ENSG00000269720.2	protein_coding	-	-	-	-
CTD-2521M24.4	chr19	17417031	17418288	-	ENSG00000254503.1	processed_pseudogene	-	-	-	-
CTD-2521M24.6	chr19	17414257	17422324	-	ENSG00000269481.1	antisense	-	-	-	-
CTD-2524L6.3	chr15	71818396	71823384	+	ENSG00000260037.5	antisense	-	-	-	-
CTD-2526A2.2	chr17	80453735	80454729	-	ENSG00000260369.2	lincRNA	-	-	-	-
CTD-2526L21.2	chr7	63699390	63700441	+	ENSG00000226411.1	unprocessed_pseudogene	-	-	-	-
CTD-2527I21.14	chr19	35014961	35025335	-	ENSG00000271032.1	antisense	-	-	-	-
CTD-2527I21.5	chr19	35137645	35139580	-	ENSG00000279619.1	TEC	-	-	-	-
CTD-2528A14.1	chr19	17009189	17013460	+	ENSG00000268985.1	antisense	-	-	-	-
CTD-2528L19.6	chr19	37728586	37730643	-	ENSG00000267152.1	lincRNA	-	-	-	-
CTD-2529P6.4	chr19	8833065	8833541	+	ENSG00000269400.1	sense_intronic	-	-	-	-
CTD-2530H12.2	chr11	75775904	75776929	+	ENSG00000254826.1	sense_intronic	-	-	-	-
CTD-2530H12.4	chr11	75583196	75594665	+	ENSG00000255326.1	antisense	-	-	-	-
CTD-2530N21.5	chr8	22169338	22171710	+	ENSG00000177725.5	sense_overlapping	-	-	-	-
CTD-2532N20.1	chr8	65842752	65843331	+	ENSG00000272192.1	lincRNA	-	-	-	-
CTD-2534I21.9	chr17	44982514	44982772	+	ENSG00000267788.1	lincRNA	-	-	-	-
CTD-2537I9.13	chr19	55670632	55672069	+	ENSG00000267096.1	sense_intronic	-	-	-	-
CTD-2537I9.18	chr19	55612490	55613097	-	ENSG00000276488.1	antisense	-	-	-	-
CTD-2538C1.2	chr19	32687089	32691750	-	ENSG00000267475.1	lincRNA	-	-	-	-
CTD-2540B15.9	chr19	33305036	33309387	+	ENSG00000267130.1	lincRNA	-	-	-	-
CTD-2540F13.2	chr19	38738284	38739863	+	ENSG00000267892.1	antisense	-	-	-	-
CTD-2545G14.6	chr17	7242200	7243814	+	ENSG00000279641.1	TEC	-	-	-	-
CTD-2545H1.2	chr17	1995614	2003671	+	ENSG00000262445.3	antisense	-	-	-	-
CTD-2547L24.4	chr14	91258299	91259003	+	ENSG00000260810.1	lincRNA	-	-	-	-
CTD-2553C6.1	chr19	9995997	9997163	+	ENSG00000267650.1	antisense	-	-	-	-
CTD-2554C21.1	chr19	37779686	37792865	+	ENSG00000267422.1	transcribed_processed_pseudogene	-	-	-	-
CTD-2554C21.2	chr19	37817359	37832160	+	ENSG00000267640.6	transcribed_unprocessed_pseudogene	-	-	-	-
CTD-2555A7.3	chr16	89113175	89115279	-	ENSG00000261546.1	antisense	-	-	-	-
CTD-2555C10.3	chr14	102545254	102555826	+	ENSG00000259230.1	lincRNA	-	-	-	-
CTD-2555O16.2	chr14	64422935	64448557	-	ENSG00000258824.2	antisense	-	-	-	-
CTD-2555O16.4	chr14	64440369	64442238	-	ENSG00000272909.1	antisense	-	-	-	-
CTD-2560K21.6	chr19	50555370	50557969	-	ENSG00000268231.1	sense_intronic	-	-	-	-
CTD-2561B21.11	chr17	81017969	81020011	-	ENSG00000262873.1	lincRNA	-	-	-	-
CTD-2561B21.4	chr17	80940418	80942033	-	ENSG00000262313.1	antisense	-	-	-	-
CTD-2561B21.5	chr17	80966239	80971213	-	ENSG00000261924.1	antisense	-	-	-	-
CTD-2561B21.7	chr17	80999509	81000130	-	ENSG00000263218.2	antisense	-	-	-	-
CTD-2562G15.2	chr15	75415249	75416020	+	ENSG00000261714.2	processed_pseudogene	-	-	-	-
CTD-2562J15.4	chr19	16186276	16189458	-	ENSG00000267033.1	antisense	-	-	-	-
CTD-2562J15.6	chr19	16283359	16324514	-	ENSG00000267275.1	antisense	-	-	-	-
CTD-2566J3.1	chr14	68125004	68130196	-	ENSG00000258837.1	antisense	-	-	-	-
CTD-2574D22.2	chr16	29926836	29928933	+	ENSG00000247735.2	antisense	-	-	-	-
CTD-2574D22.3	chr16	29913144	29915337	-	ENSG00000279789.1	TEC	-	-	-	-
CTD-2574D22.4	chr16	29919634	29921905	-	ENSG00000260114.2	sense_intronic	-	-	-	-
CTD-2576N18.1	chr18	25200976	25202837	-	ENSG00000279439.1	TEC	-	-	-	-
CTD-2583A14.8	chr19	57867038	57868172	-	ENSG00000269867.1	sense_intronic	-	-	-	-
CTD-2587M2.1	chr5	109237120	109326369	-	ENSG00000249476.1	lincRNA	-	-	-	-
CTD-2589H19.6	chr5	675826	676616	+	ENSG00000271781.1	antisense	-	-	-	-
CTD-2589M5.5	chr11	46238382	46239267	+	ENSG00000254639.1	lincRNA	-	-	-	-
CTD-2591A1.1	chr5	54643557	54645987	+	ENSG00000280159.1	TEC	-	-	-	-
CTD-2616J11.3	chr19	51414298	51414965	+	ENSG00000254760.1	antisense	-	-	-	-
CTD-2619J13.13	chr19	58400221	58400679	+	ENSG00000268307.1	lincRNA	-	-	-	-
CTD-2619J13.14	chr19	58404238	58408484	-	ENSG00000232098.3	lincRNA	-	-	-	-
CTD-2619J13.16	chr19	58418560	58419310	+	ENSG00000268543.1	TEC	-	-	-	-
CTD-2619J13.17	chr19	58428632	58431148	-	ENSG00000268912.1	lincRNA	-	-	-	-
CTD-2619J13.19	chr19	58440448	58445849	+	ENSG00000269473.1	lincRNA	-	-	-	-
CTD-2619J13.3	chr19	58362585	58366591	+	ENSG00000269054.1	antisense	-	-	-	-
CTD-2619J13.5	chr19	58350795	58351720	+	ENSG00000279611.1	TEC	-	-	-	-
CTD-2619J13.9	chr19	58357999	58359603	+	ENSG00000268049.1	antisense	-	-	-	-
CTD-2622I13.3	chr19	4061615	4062749	-	ENSG00000268670.1	sense_intronic	-	-	-	-
CTD-2623N2.11	chr19	9834079	9835013	-	ENSG00000267289.1	lincRNA	-	-	-	-
CTD-2630F21.1	chr19	36489649	36491040	+	ENSG00000267309.1	antisense	-	-	-	-
CTD-2631K10.1	chr5	72794405	72816565	-	ENSG00000249085.1	antisense	-	-	-	-
CTD-2639E6.9	chr19	48963975	48965158	+	ENSG00000267898.1	lincRNA	-	-	-	-
CTD-2650P22.1	chr15	52010999	52019095	-	ENSG00000259438.1	lincRNA	-	-	-	-
CTD-2650P22.2	chr15	52017167	52018032	-	ENSG00000274528.1	sense_intronic	-	-	-	-
CTD-2651B20.3	chr15	45251580	45279251	-	ENSG00000259520.5	antisense	-	-	-	-
CTD-2651B20.4	chr15	45330209	45332634	-	ENSG00000259433.2	processed_pseudogene	-	-	-	-
CTD-2653B5.1	chr17	67524481	67525422	+	ENSG00000264754.1	sense_intronic	-	-	-	-
CTD-2653M23.3	chr5	36861736	36862217	-	ENSG00000272103.1	lincRNA	-	-	-	-
CTD-2666L21.2	chr19	12284337	12285185	+	ENSG00000234750.1	processed_pseudogene	-	-	-	-
CTD-2666L21.3	chr19	12260126	12260537	+	ENSG00000213293.4	processed_pseudogene	-	-	-	-
CTD-3001H11.2	chr19	47607873	47608454	-	ENSG00000277383.1	antisense	-	-	-	-
CTD-3010D24.3	chr17	72642731	72644490	+	ENSG00000263893.2	lincRNA	-	-	-	-
CTD-3012A18.1	chr11	29519076	29552639	+	ENSG00000255029.1	lincRNA	-	-	-	-
CTD-3022L24.1	chr17	69433084	69435533	+	ENSG00000278972.1	TEC	-	-	-	-
CTD-3023L14.2	chr8	8561391	8569688	+	ENSG00000253130.1	lincRNA	-	-	-	-
CTD-3025N20.3	chr8	65591850	65592472	-	ENSG00000272010.1	lincRNA	-	-	-	-
CTD-3032H12.1	chr16	54937786	54938671	-	ENSG00000259725.1	lincRNA	-	-	-	-
CTD-3032J10.3	chr19	17207138	17208010	-	ENSG00000269480.1	antisense	-	-	-	-
CTD-3035D6.2	chr14	90822365	90828128	-	ENSG00000258884.1	lincRNA	-	-	-	-
CTD-3035K23.3	chr17	62679403	62681354	-	ENSG00000279713.1	TEC	-	-	-	-
CTD-3051D23.1	chr14	104842663	104845916	+	ENSG00000258811.1	lincRNA	-	-	-	-
CTD-3064H18.4	chr19	37545470	37549171	-	ENSG00000180458.2	antisense	-	-	-	-
CTD-3064M3.3	chr8	141353403	141355365	-	ENSG00000261655.1	sense_overlapping	-	-	-	-
CTD-3064M3.4	chr8	141389939	141392574	-	ENSG00000244998.1	antisense	-	-	-	-
CTD-3065B20.2	chr15	90595840	90596447	-	ENSG00000259212.1	antisense	-	-	-	-
CTD-3065B20.3	chr15	90604225	90614558	-	ENSG00000259314.1	antisense	-	-	-	-
CTD-3065J16.9	chr8	144078002	144079265	-	ENSG00000255224.1	antisense	-	-	-	-
CTD-3073N11.9	chr19	51519731	51520260	+	ENSG00000268777.1	antisense	-	-	-	-
CTD-3074O7.2	chr11	66558866	66560384	-	ENSG00000250105.1	lincRNA	-	-	-	-
CTD-3074O7.5	chr11	66473490	66480233	-	ENSG00000255517.6	antisense	-	-	-	-
CTD-3076O17.1	chr15	99970215	99974010	+	ENSG00000254744.3	antisense	-	-	-	-
CTD-3076O17.2	chr15	99976481	99980774	+	ENSG00000259219.1	antisense	-	-	-	-
CTD-3088G3.4	chr16	11380859	11381118	-	ENSG00000262636.1	processed_pseudogene	-	-	-	-
CTD-3092A11.2	chr15	30487963	30490313	+	ENSG00000270055.1	sense_intronic	-	-	-	-
CTD-3093M3.1	chr19	54031412	54031504	+	ENSG00000276206.1	unprocessed_pseudogene	-	-	-	-
CTD-3096P4.1	chr11	16023190	16031515	+	ENSG00000254878.1	antisense	-	-	-	-
CTD-3099C6.11	chr19	52597699	52598887	-	ENSG00000268970.1	sense_intronic	-	-	-	-
CTD-3099C6.9	chr19	52650437	52653284	-	ENSG00000269825.1	sense_intronic	-	-	-	-
CTD-3105H18.14	chr19	12379189	12401274	-	ENSG00000268744.1	protein_coding	-	-	-	-
CTD-3105H18.4	chr19	12379746	12383687	-	ENSG00000248406.1	transcribed_unprocessed_pseudogene	-	-	-	-
CTD-3105H18.7	chr19	12450935	12460705	+	ENSG00000234848.1	antisense	-	-	-	-
CTD-3110H11.1	chr15	50359450	50360194	-	ENSG00000259715.1	lincRNA	-	-	-	-
CTD-3116E22.7	chr19	9730853	9731943	+	ENSG00000267612.1	lincRNA	-	-	-	-
CTD-3118D11.3	chr8	86180418	86212236	+	ENSG00000253699.1	antisense	-	-	-	-
CTD-3138B18.5	chr19	58257270	58278808	-	ENSG00000268516.2	antisense	-	-	-	-
CTD-3149D2.3	chr19	17613722	17614430	+	ENSG00000269752.1	antisense	-	-	-	-
CTD-3154N5.1	chr15	74613194	74615596	-	ENSG00000260919.1	antisense	-	-	-	-
CTD-3162L10.1	chr19	36304580	36312668	+	ENSG00000267053.6	lincRNA	-	-	-	-
CTD-3184A7.4	chr20	63627227	63628824	+	ENSG00000232442.1	antisense	-	-	-	-
CTD-3185P2.1	chr15	66488658	66492109	-	ENSG00000261351.2	antisense	-	-	-	-
CTD-3187F8.2	chr19	51251231	51271179	-	ENSG00000268595.1	antisense	-	-	-	-
CTD-3187F8.6	chr19	51155288	51155624	-	ENSG00000269681.1	processed_pseudogene	-	-	-	-
CTD-3187F8.7	chr19	51194118	51195540	-	ENSG00000268652.1	processed_pseudogene	-	-	-	-
CTD-3193K9.11	chr17	42751289	42751717	-	ENSG00000273650.1	lincRNA	-	-	-	-
CTD-3193K9.3	chr17	42683187	42699466	-	ENSG00000267765.1	antisense	-	-	-	-
CTD-3193O13.8	chr19	7926001	7926810	+	ENSG00000269139.2	processed_transcript	-	-	-	-
CTD-3194G12.2	chr17	36722583	36726340	+	ENSG00000275613.1	lincRNA	-	-	-	-
CTD-3199J23.6	chr17	43144956	43145255	+	ENSG00000267681.1	transcribed_processed_pseudogene	-	-	-	-
CTD-3203P2.1	chr16	27213308	27214993	-	ENSG00000259940.2	antisense	-	-	-	-
CTD-3220F14.1	chr19	37265939	37271518	-	ENSG00000267605.5	lincRNA	-	-	-	-
CTD-3220F14.3	chr19	37314868	37315620	-	ENSG00000276846.1	antisense	-	-	-	-
CTD-3222D19.8	chr19	16572624	16575340	+	ENSG00000279529.1	antisense	-	-	-	-
CTD-3222D19.9	chr19	16586905	16589409	+	ENSG00000279748.1	TEC	-	-	-	-
CTD-3224K15.3	chr5	139644460	139645002	-	ENSG00000272255.1	lincRNA	-	-	-	-
CTD-3229J4.1	chr16	17825252	17826906	+	ENSG00000261555.1	lincRNA	-	-	-	-
CTD-3247H4.2	chr15	48528980	48529728	-	ENSG00000274654.1	sense_intronic	-	-	-	-
CTD-3253I12.1	chr16	82953230	82990298	-	ENSG00000260832.1	antisense	-	-	-	-
CTDNEP1	chr17	7243591	7252491	-	ENSG00000175826.11	protein_coding	DULLARD|HSA011916|NET56	17p13.1	CTD nuclear envelope phosphatase 1	Ubiquitous expression in spleen (RPKM 30.6), appendix (RPKM 29.9) and 25 other tissues
CTDP1	chr18	79679801	79756623	+	ENSG00000060069.16	protein_coding	CCFDN|FCP1	18q23	CTD phosphatase subunit 1	This gene encodes a protein which interacts with the carboxy-terminus of the RAP74 subunit of transcription initiation factor TFIIF, and functions as a phosphatase that processively dephosphorylates the C-terminus of POLR2A (a subunit of RNA polymerase II), making it available for initiation of gene expression. Mutations in this gene are associated with congenital cataracts, facial dysmorphism and neuropathy syndrome (CCFDN). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
CTDSP1	chr2	218398256	218405941	+	ENSG00000144579.7	protein_coding	NIF3|NLI-IF|NLIIF|SCP1	2q35	CTD small phosphatase 1	This gene encodes a member of the small C-terminal domain phosphatase (SCP) family of nuclear phosphatases. These proteins play a role in transcriptional regulation through specific dephosphorylation of phosphoserine 5 within tandem heptapeptide repeats of the C-terminal domain of RNA polymerase II. The encoded protein plays a role in neuronal gene silencing in non-neuronal cells, and may also inhibit osteoblast differentiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
CTDSP2	chr12	57819927	57846739	-	ENSG00000175215.10	protein_coding	OS4|PSR2|SCP2	12q14.1	CTD small phosphatase 2	Ubiquitous expression in lung (RPKM 63.4), ovary (RPKM 53.0) and 25 other tissues
CTDSPL	chr3	37861960	37984469	+	ENSG00000144677.14	protein_coding	C3orf8|HYA22|PSR1|RBSP3|SCP3	3p22.2	CTD small phosphatase like	Ubiquitous expression in skin (RPKM 20.1), gall bladder (RPKM 14.9) and 25 other tissues
CTF1	chr16	30896607	30903560	+	ENSG00000150281.6	protein_coding	CT-1|CT1	16p11.2	cardiotrophin 1	The protein encoded by this gene is a secreted cytokine that induces cardiac myocyte hypertrophy in vitro. It has been shown to bind and activate the ILST/gp130 receoptor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
CTF2P	chr16	30904348	30910208	-	ENSG00000230447.2	unitary_pseudogene	NP	16p11.2	cardiotrophin 2, pseudogene	The cytokine neuropoietin belongs to the IL-6 superfamily. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Mar 2013]
CTHRC1	chr8	103371515	103382997	+	ENSG00000164932.12	protein_coding	-	8q22.3	collagen triple helix repeat containing 1	Biased expression in gall bladder (RPKM 34.5), urinary bladder (RPKM 33.4) and 12 other tissues
CTIF	chr18	48539046	48863217	+	ENSG00000134030.13	protein_coding	Gm672|KIAA0427	18q21.1	cap binding complex dependent translation initiation factor	CTIF is a component of the CBP80 (NCBP1; MIM 600469)/CBP20 (NCBP2; MIM 605133) translation initiation complex that binds cotranscriptionally to the cap end of nascent mRNA. The CBP80/CBP20 complex is involved in a simultaneous editing and translation step that recognizes premature termination codons (PTCs) in mRNAs and directs PTC-containing mRNAs toward nonsense-mediated decay (NMD). On mRNAs without PTCs, the CBP80/CBP20 complex is replaced with cytoplasmic mRNA cap-binding proteins, including EIF4G (MIM 600495), and steady-state translation of the mRNAs resumes in the cytoplasm (Kim et al., 2009 [PubMed 19648179]).[supplied by OMIM, Dec 2009]
CTLA4	chr2	203867786	203873960	+	ENSG00000163599.14	protein_coding	ALPS5|CD|CD152|CELIAC3|CTLA-4|GRD4|GSE|IDDM12	2q33.2	cytotoxic T-lymphocyte associated protein 4	This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. [provided by RefSeq, Jul 2008]
CTNNA1	chr5	138610967	138935034	+	ENSG00000044115.20	protein_coding	CAP102|MDPT2	5q31.2	catenin alpha 1	This gene encodes a member of the catenin family of proteins that play an important role in cell adhesion process by connecting cadherins located on the plasma membrane to the actin filaments inside the cell. The encoded mechanosensing protein contains three vinculin homology domains and undergoes conformational changes in response to cytoskeletal tension, resulting in the reconfiguration of cadherin-actin filament connections. Certain mutations in this gene cause butterfly-shaped pigment dystrophy. [provided by RefSeq, May 2016]
CTNNA1P1	chr5	115389643	115392370	-	ENSG00000249026.2	processed_pseudogene	CTNNAP1	5q22.3	catenin alpha 1 pseudogene 1	-
CTNNA3	chr10	65912518	67696169	-	ENSG00000183230.16	protein_coding	ARVD13|VR22	10q21.3	catenin alpha 3	This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
CTNNAL1	chr9	108942569	109013529	-	ENSG00000119326.14	protein_coding	ACRP|CLLP|alpha-CATU	9q31.3	catenin alpha like 1	Broad expression in adrenal (RPKM 101.6), ovary (RPKM 57.7) and 22 other tissues
CTNNB1	chr3	41194837	41260096	+	ENSG00000168036.16	protein_coding	CTNNB|EVR7|MRD19|NEDSDV|armadillo	3p22.1	catenin beta 1	The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
CTNNBIP1	chr1	9848276	9910336	-	ENSG00000178585.14	protein_coding	ICAT	1p36.22	catenin beta interacting protein 1	The protein encoded by this gene binds CTNNB1 and prevents interaction between CTNNB1 and TCF family members. The encoded protein is a negative regulator of the Wnt signaling pathway. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
CTNNBL1	chr20	37693955	37872129	+	ENSG00000132792.18	protein_coding	C20orf33|NAP|P14L|PP8304|dJ633O20.1	20q11.23	catenin beta like 1	The protein encoded by this gene is a component of the pre-mRNA-processing factor 19-cell division cycle 5-like (PRP19-CDC5L) protein complex, which activates pre-mRNA splicing and is an integral part of the spliceosome. The encoded protein is also a nuclear localization sequence binding protein, and binds to activation-induced deaminase and is important for antibody diversification. This gene may also be associated with the development of obesity. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013]
CTNND1	chr11	57753243	57819546	+	ENSG00000198561.13	protein_coding	BCDS2|CAS|CTNND|P120CAS|P120CTN|p120|p120(CAS)|p120(CTN)	11q12.1	catenin delta 1	This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. Read-through transcription also exists between this gene and the neighboring upstream thioredoxin-related transmembrane protein 2 (TMX2) gene. [provided by RefSeq, Dec 2010]
CTNND2	chr5	10971840	11904043	-	ENSG00000169862.18	protein_coding	GT24|NPRAP	5p15.2	catenin delta 2	This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
CTPS1	chr1	40979335	41012565	+	ENSG00000171793.13	protein_coding	CTPS|GATD5|GATD5A|IMD24	1p34.2	CTP synthase 1	This gene encodes an enzyme responsible for the catalytic conversion of UTP (uridine triphosphate) to CTP (cytidine triphospate). This reaction is an important step in the biosynthesis of phospholipids and nucleic acids. Activity of this proten is important in the immune system, and loss of function of this gene has been associated with immunodeficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
CTPS2	chrX	16588003	16712936	-	ENSG00000047230.14	protein_coding	GATD5B	Xp22.2	CTP synthase 2	The protein encoded by this gene catalyzes the formation of CTP from UTP with the concomitant deamination of glutamine to glutamate. This protein is the rate-limiting enzyme in the synthesis of cytosine nucleotides, which play an important role in various metabolic processes and provide the precursors necessary for the synthesis of RNA and DNA. Cancer cells that exhibit increased cell proliferation also exhibit an increased activity of this encoded protein. Thus, this protein is an attractive target for selective chemotherapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
CTR9	chr11	10750987	10779743	+	ENSG00000198730.7	protein_coding	SH2BP1|TSBP|p150|p150TSP	11p15.4	CTR9 homolog, Paf1/RNA polymerase II complex component	The protein encoded by this gene is a component of the PAF1 complex, which associates with RNA polymerase II and functions in transcriptional regulation and elongation. This complex also plays a role in the modification of histones. [provided by RefSeq, Oct 2016]
CTRB1	chr16	75219000	75224924	+	ENSG00000168925.10	protein_coding	CTRB	16q23.1	chymotrypsinogen B1	This gene encodes a member of the serine protease family of enzymes and forms a principal precursor of the pancreatic proteolytic enzymes. The encoded preproprotein is synthesized in the acinar cells of the pancreas and secreted into the small intestine where it undergoes proteolytic activation to generate a functional enzyme. This CTRB1 gene is located head-to-head with the related CTRB2 gene. Some human populations have an alternate haplotype which inverts a 16.6 Kb region containing portions of intron 1, exon 1, and the upstream sequence of the CTRB1 and CTRB2 genes. In this inversion haplotype exon 1 and flanking sequence is swapped in CTRB1 and CTRB2. This inversion is associated with differential gene expression and increased risk for chronic pancreatitis. The GRCh38 assembly represents the minor allele for SNP rs8048956 of the CTRB1 gene. SNP rs8048956 in intron 1 of the CTRB2 gene is diagnostic for this inversion. This CTRB1 gene encodes distinct isoforms, some or all of which may undergo similar processing to generate the mature protein. [provided by RefSeq, Jan 2021]
CTRB2	chr16	75204096	75207185	-	ENSG00000168928.12	protein_coding	-	16q23.1	chymotrypsinogen B2	Restricted expression toward pancreas (RPKM 32305.1)
CTRL	chr16	67927640	67932414	-	ENSG00000141086.17	protein_coding	CTRL1	16q22.1	chymotrypsin like	This gene encodes a serine-type endopeptidase with chymotrypsin- and elastase-2-like activities. The gene encoding this zymogen is expressed specifically in the pancreas and likely functions as a digestive enzyme. [provided by RefSeq, Sep 2016]
CTSA	chr20	45890144	45898820	+	ENSG00000064601.16	protein_coding	GLB2|GSL|NGBE|PPCA|PPGB	20q13.12	cathepsin A	This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015]
CTSB	chr8	11842524	11869448	-	ENSG00000164733.20	protein_coding	APPS|CPSB|RECEUP	8p23.1	cathepsin B	This gene encodes a member of the C1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin B light and heavy chains, which can dimerize to form the double chain form of the enzyme. This enzyme is a lysosomal cysteine protease with both endopeptidase and exopeptidase activity that may play a role in protein turnover. It is also known as amyloid precursor protein secretase and is involved in the proteolytic processing of amyloid precursor protein (APP). Incomplete proteolytic processing of APP has been suggested to be a causative factor in Alzheimers disease, the most common cause of dementia. Overexpression of the encoded protein has been associated with esophageal adenocarcinoma and other tumors. Both Cathepsin B and Cathepsin L are involved in the cleavage of the spike protein from the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) upon its entry to the human host cell. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Sep 2020]
CTSC	chr11	88293592	88337787	-	ENSG00000109861.15	protein_coding	CPPI|DPP-I|DPP1|DPPI|HMS|JP|JPD|PALS|PDON1|PLS	11q14.2	cathepsin C	This gene encodes a member of the peptidase C1 family and lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in cells of the immune system. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate heavy and light chains that form a disulfide-linked dimer. A portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. [provided by RefSeq, Nov 2015]
CTSD	chr11	1752752	1764573	-	ENSG00000117984.13	protein_coding	CLN10|CPSD|HEL-S-130P	11p15.5	cathepsin D	This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimers disease. [provided by RefSeq, Nov 2015]
CTSE	chr1	206009264	206023909	-	ENSG00000196188.10	protein_coding	CATE	1q32.1	cathepsin E	This gene encodes a member of the A1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme, an aspartic endopeptidase, may be involved in antigen processing and the maturation of secretory proteins. Elevated expression of this gene has been observed in neurodegeneration. [provided by RefSeq, Nov 2015]
CTSF	chr11	66563463	66568841	-	ENSG00000174080.10	protein_coding	CATSF|CLN13	11q13.2	cathepsin F	Cathepsins are papain family cysteine proteinases that represent a major component of the lysosomal proteolytic system. Cathepsins generally contain a signal sequence, followed by a propeptide and then a catalytically active mature region. The very long (251 amino acid residues) proregion of the cathepsin F precursor contains a C-terminal domain similar to the pro-segment of cathepsin L-like enzymes, a 50-residue flexible linker peptide, and an N-terminal domain predicted to adopt a cystatin-like fold. The cathepsin F proregion is unique within the papain family cysteine proteases in that it contains this additional N-terminal segment predicted to share structural similarities with cysteine protease inhibitors of the cystatin superfamily. This cystatin-like domain contains some of the elements known to be important for inhibitory activity. CTSF encodes a predicted protein of 484 amino acids which contains a 19 residue signal peptide. Cathepsin F contains five potential N-glycosylation sites, and it may be targeted to the endosomal/lysosomal compartment via the mannose 6-phosphate receptor pathway. The cathepsin F gene is ubiquitously expressed, and it maps to chromosome 11q13, close to the gene encoding cathepsin W. [provided by RefSeq, Jul 2008]
CTSG	chr14	24573522	24576260	-	ENSG00000100448.3	protein_coding	CATG|CG	14q12	cathepsin G	The protein encoded by this gene, a member of the peptidase S1 protein family, is found in azurophil granules of neutrophilic polymorphonuclear leukocytes. The encoded protease has a specificity similar to that of chymotrypsin C, and may participate in the killing and digestion of engulfed pathogens, and in connective tissue remodeling at sites of inflammation. In addition, the encoded protein is antimicrobial, with bacteriocidal activity against S. aureus and N. gonorrhoeae. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Sep 2014]
CTSH	chr15	78921058	78949574	-	ENSG00000103811.15	protein_coding	ACC-4|ACC-5|ACC4|ACC5|CPSB	15q25.1	cathepsin H	The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
CTSK	chr1	150796208	150808323	-	ENSG00000143387.12	protein_coding	CTS02|CTSO|CTSO1|CTSO2|PKND|PYCD	1q21.3	cathepsin K	The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly expressed in osteoclasts. However, the encoded protein is also expressed in a significant fraction of human breast cancers, where it could contribute to tumor invasiveness. Mutations in this gene are the cause of pycnodysostosis, an autosomal recessive disease characterized by osteosclerosis and short stature. [provided by RefSeq, Apr 2013]
CTSL	chr9	87725519	87731393	+	ENSG00000135047.14	protein_coding	CATL|CTSL1|MEP	9q21.33	cathepsin L	The protein encoded by this gene is a lysosomal cysteine proteinase that plays a major role in intracellular protein catabolism. Its substrates include collagen and elastin, as well as alpha-1 protease inhibitor, a major controlling element of neutrophil elastase activity. The encoded protein has been implicated in several pathologic processes, including myofibril necrosis in myopathies and in myocardial ischemia, and in the renal tubular response to proteinuria. This protein, which is a member of the peptidase C1 family, is a dimer composed of disulfide-linked heavy and light chains, both produced from a single protein precursor. Additionally, this protein cleaves the S1 subunit of the SARS-CoV-2 spike protein, which is necessary for entry of the virus into the cell. [provided by RefSeq, Aug 2020]
CTSLP6	chr10	79870375	79873903	-	ENSG00000204437.7	unprocessed_pseudogene	CTSL1P6|CTSLL6|bA479O17.1	10q22.3	cathepsin L pseudogene 6	-
CTSLP8	chr9	87844152	87847314	+	ENSG00000234575.1	unprocessed_pseudogene	CTSL1P8	9q22.1	cathepsin L pseudogene 8	-
CTSO	chr4	155924118	155953917	-	ENSG00000256043.2	protein_coding	CTSO1	4q32.1	cathepsin O	The protein encoded by the gene is a cysteine proteinase and a member of the papain superfamily. This proteolytic enzyme is involved in cellular protein degradation and turnover. The recombinant form of this enzyme was shown to degrade synthetic peptides typically used as substrates for cysteine proteinases and its proteolytic activity was abolished by an inhibitor of cyteine proteinase. [provided by RefSeq, Jul 2008]
CTSS	chr1	150730196	150765957	-	ENSG00000163131.10	protein_coding	-	1q21.3	cathepsin S	Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
CTSV	chr9	97029679	97039643	-	ENSG00000136943.10	protein_coding	CATL2|CTSL2|CTSU	9q22.33	cathepsin V	The protein encoded by this gene, a member of the peptidase C1 family, is a lysosomal cysteine proteinase that may play an important role in corneal physiology. This gene is expressed in colorectal and breast carcinomas but not in normal colon, mammary gland, or peritumoral tissues, suggesting a possible role for this gene in tumor processes. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2011]
CTSW	chr11	65879809	65883741	+	ENSG00000172543.7	protein_coding	LYPN	11q13.1	cathepsin W	The protein encoded by this gene, a member of the peptidase C1 family, is a cysteine proteinase that may have a specific function in the mechanism or regulation of T-cell cytolytic activity. The encoded protein is found associated with the membrane inside the endoplasmic reticulum of natural killer and cytotoxic T-cells. Expression of this gene is up-regulated by interleukin-2. [provided by RefSeq, Jul 2008]
CTSZ	chr20	58995185	59007247	-	ENSG00000101160.13	protein_coding	CTSX	20q13.32	cathepsin Z	The protein encoded by this gene is a lysosomal cysteine proteinase and member of the peptidase C1 family. It exhibits both carboxy-monopeptidase and carboxy-dipeptidase activities. The encoded protein has also been known as cathepsin X and cathepsin P. This gene is expressed ubiquitously in cancer cell lines and primary tumors and, like other members of this family, may be involved in tumorigenesis. [provided by RefSeq, Oct 2008]
CTTN	chr11	70398404	70436584	+	ENSG00000085733.15	protein_coding	EMS1	11q13.3	cortactin	This gene is overexpressed in breast cancer and squamous cell carcinomas of the head and neck. The encoded protein is localized in the cytoplasm and in areas of the cell-substratum contacts. This gene has two roles: (1) regulating the interactions between components of adherens-type junctions and (2) organizing the cytoskeleton and cell adhesion structures of epithelia and carcinoma cells. During apoptosis, the encoded protein is degraded in a caspase-dependent manner. The aberrant regulation of this gene contributes to tumor cell invasion and metastasis. Three splice variants that encode different isoforms have been identified for this gene. [provided by RefSeq, May 2010]
CTTNBP2	chr7	117710651	117874139	-	ENSG00000077063.10	protein_coding	C7orf8|CORTBP2|Orf4	7q31.31	cortactin binding protein 2	This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. [provided by RefSeq, Jul 2008]
CTTNBP2NL	chr1	112396181	112463456	+	ENSG00000143079.14	protein_coding	-	1p13.2	CTTNBP2 N-terminal like	-
CTU1	chr19	51097606	51108370	-	ENSG00000142544.6	protein_coding	ATPBD3|NCS6	19q13.41	cytosolic thiouridylase subunit 1	Predicted to enable tRNA binding activity. Predicted to be involved in tRNA wobble position uridine thiolation. Predicted to be located in cytosol. Predicted to be part of cytosolic tRNA wobble base thiouridylase complex. [provided by Alliance of Genome Resources, Apr 2022]
CTU2	chr16	88706463	88715386	+	ENSG00000174177.12	protein_coding	C16orf84|MFRG|NCS2|UPF0432	16q24.3	cytosolic thiouridylase subunit 2	This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
CTXN1	chr19	7924485	7926166	-	ENSG00000178531.5	protein_coding	CTXN	19p13.2	cortexin 1	Biased expression in brain (RPKM 30.2), endometrium (RPKM 9.4) and 3 other tissues
CTXN2	chr15	48191539	48203756	+	ENSG00000233932.4	protein_coding	-	15q21.1	cortexin 2	-
CTXN3	chr5	127649044	127658630	+	ENSG00000205279.8	protein_coding	KABE	5q23.2	cortexin 3	Restricted expression toward kidney (RPKM 21.3)
CUEDC1	chr17	57861243	57955323	-	ENSG00000180891.12	protein_coding	-	17q22	CUE domain containing 1	-
CUEDC2	chr10	102423245	102432661	-	ENSG00000107874.10	protein_coding	C10orf66|bA18I14.5	10q24.32	CUE domain containing 2	Ubiquitous expression in brain (RPKM 31.2), heart (RPKM 24.6) and 25 other tissues
CUL1	chr7	148697914	148801036	+	ENSG00000055130.15	protein_coding	-	7q36.1	cullin 1	-
CUL2	chr10	35008551	35090642	-	ENSG00000108094.14	protein_coding	-	10p11.21	cullin 2	-
CUL3	chr2	224470150	224585397	-	ENSG00000036257.12	protein_coding	CUL-3|NEDAUS|PHA2E	2q36.2	cullin 3	This gene encodes a member of the cullin protein family. The encoded protein plays a critical role in the polyubiquitination and subsequent degradation of specific protein substrates as the core component and scaffold protein of an E3 ubiquitin ligase complex. Complexes including the encoded protein may also play a role in late endosome maturation. Mutations in this gene are a cause of type 2E pseudohypoaldosteronism. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
CUL4A	chr13	113208193	113267108	+	ENSG00000139842.14	protein_coding	-	13q34	cullin 4A	Ubiquitous expression in testis (RPKM 20.5), heart (RPKM 17.9) and 25 other tissues
CUL5	chr11	108008733	108107776	+	ENSG00000166266.13	protein_coding	CUL-5|VACM-1|VACM1	11q22.3	cullin 5	Ubiquitous expression in thyroid (RPKM 9.9), kidney (RPKM 8.6) and 25 other tissues
CUL7	chr6	43037617	43053945	-	ENSG00000044090.8	protein_coding	3M1|CUL-7|KIAA0076|dJ20C7.5	6p21.1	cullin 7	The protein encoded by this gene is a component of an E3 ubiquitin-protein ligase complex. The encoded protein interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
CUL9	chr6	43182175	43224587	+	ENSG00000112659.13	protein_coding	H7AP1|PARC	6p21.1	cullin 9	Ubiquitous expression in testis (RPKM 6.1), skin (RPKM 5.9) and 25 other tissues
CUTA	chr6	33416442	33418317	-	ENSG00000112514.15	protein_coding	ACHAP|C6orf82	6p21.32	cutA divalent cation tolerance homolog	Ubiquitous expression in thyroid (RPKM 52.9), adrenal (RPKM 52.0) and 25 other tissues
CUTALP	chr9	 120843075	120854373	+	ENSG00000226752	pseudogene	PSMD5-AS1	9q33.2	cutA divalent cation tolerance like, pseudogene	Ubiquitous expression in lymph node (RPKM 7.2), prostate (RPKM 6.8) and 25 other tissues
CUTC	chr10	99702558	99756134	+	ENSG00000119929.12	protein_coding	CGI-32	10q24.2	cutC copper transporter	Members of the CUT family of copper transporters are associated with copper homeostasis and are involved in the uptake, storage, delivery, and efflux of copper (Gupta et al., 1995 [PubMed 7635807]; Li et al., 2005 [PubMed 16182249]).[supplied by OMIM, Mar 2008]
CUX1	chr7	101815904	102283957	+	ENSG00000257923.9	protein_coding	CASP|CDP|CDP/Cut|CDP1|COY1|CUTL1|CUX|Clox|Cux/CDP|GDDI|GOLIM6|Nbla10317|p100|p110|p200|p75	7q22.1	cut like homeobox 1	The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Feb 2011]
CUX2	chr12	111034024	111350554	+	ENSG00000111249.13	protein_coding	CDP2|CUTL2|DEE67|EIEE67	12q24.11-q24.12	cut like homeobox 2	This gene encodes a protein which contains three CUT domains and a homeodomain; both domains are DNA-binding motifs. A similar gene, whose gene product possesses different DNA-binding activities, is located on chromosome on chromosome 7. Two pseudogenes of this gene have been identified on chromosomes 10 and 4. [provided by RefSeq, Jan 2013]
CUZD1	chr10	122832149	122850793	-	ENSG00000138161.13	protein_coding	ERG-1|ERG1|ITMAP1|UO-44	10q26.13	CUB and zona pellucida like domains 1	Restricted expression toward pancreas (RPKM 310.9)
CWC25	chr17	38800434	38825481	-	ENSG00000273559.4	protein_coding	CCDC49	17q12	CWC25 spliceosome associated protein homolog	This gene encodes a factor that is part of the multi-protein C complex involved in pre-mRNA splicing. Alternatively spliced transcripts have been described for this gene. [provided by RefSeq, Nov 2012]
CWC27	chr5	64768930	65018763	+	ENSG00000153015.15	protein_coding	NY-CO-10|RPSKA|SDCCAG-10|SDCCAG10	5q12.3	CWC27 spliceosome associated cyclophilin	Ubiquitous expression in testis (RPKM 2.3), brain (RPKM 1.8) and 25 other tissues
CWF19L1	chr10	100232298	100267680	-	ENSG00000095485.16	protein_coding	C19L1|SCAR17|hDrn1	10q24.31	CWF19 like cell cycle control factor 1	This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
CWF19L2	chr11	107326345	107457844	-	ENSG00000152404.15	protein_coding	-	11q22.3	CWF19 like cell cycle control factor 2	-
CWH43	chr4	48986247	49062081	+	ENSG00000109182.11	protein_coding	CWH43-C|PGAP2IP	4p11	cell wall biogenesis 43 C-terminal homolog	Biased expression in prostate (RPKM 20.1), skin (RPKM 10.7) and 5 other tissues
CX3CL1	chr16	57372458	57385048	+	ENSG00000006210.6	protein_coding	ABCD-3|C3Xkine|CXC3|CXC3C|NTN|NTT|SCYD1|fractalkine|neurotactin	16q21	C-X3-C motif chemokine ligand 1	This gene belongs to the CX3C subgroup of chemokines, characterized by the number of amino acids located between the conserved cysteine residues. This is the only member of the CX3C subgroup, which contains three amino acids between cysteine residues, resulting in a Cys-X-X-X-Cys configuration. The encoded protein contains an extended mucin-like stalk with a chemokine domain on top, and exists in both a membrane-anchored form where it acts as a binding molecule, or, in soluble form, as a chemotactic cytokine. The mature form of this protein can be cleaved at the cell surface, yielding different soluble forms that can interact with the G-protein coupled receptor, C-X3-C motif chemokine receptor 1 gene product. This gene plays a role in a wide range of diseases, including cancer, vasculitis, neuropathies, atherosclerosis, inflammatory diseases, and in human immunodeficiency virus infections. [provided by RefSeq, Sep 2017]
CX3CR1	chr3	39263494	39281735	-	ENSG00000168329.13	protein_coding	CCRL1|CMKBRL1|CMKDR1|GPR13|GPRV28|V28	3p22.2	C-X3-C motif chemokine receptor 1	Fractalkine is a transmembrane protein and chemokine involved in the adhesion and migration of leukocytes. The protein encoded by this gene is a receptor for fractalkine. The encoded protein also is a coreceptor for HIV-1, and some variations in this gene lead to increased susceptibility to HIV-1 infection and rapid progression to AIDS. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
CXADR	chr21	17512382	17593579	+	ENSG00000154639.18	protein_coding	CAR|CAR4/6|HCAR	21q21.1	CXADR Ig-like cell adhesion molecule	The protein encoded by this gene is a type I membrane receptor for group B coxsackieviruses and subgroup C adenoviruses. Several transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene are found on chromosomes 15, 18, and 21. [provided by RefSeq, May 2011]
CXCL1	chr4	73869393	73871242	+	ENSG00000163739.4	protein_coding	FSP|GRO1|GROa|MGSA|MGSA-a|NAP-3|SCYB1	4q13.3	C-X-C motif chemokine ligand 1	This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. Aberrant expression of this protein is associated with the growth and progression of certain tumors. A naturally occurring processed form of this protein has increased chemotactic activity. Alternate splicing results in coding and non-coding variants of this gene. A pseudogene of this gene is found on chromosome 4. [provided by RefSeq, Sep 2014]
CXCL12	chr10	44370165	44386493	-	ENSG00000107562.16	protein_coding	IRH|PBSF|SCYB12|SDF1|TLSF|TPAR1	10q11.21	C-X-C motif chemokine ligand 12	This antimicrobial gene encodes a stromal cell-derived alpha chemokine member of the intercrine family. The encoded protein functions as the ligand for the G-protein coupled receptor, chemokine (C-X-C motif) receptor 4, and plays a role in many diverse cellular functions, including embryogenesis, immune surveillance, inflammation response, tissue homeostasis, and tumor growth and metastasis. Mutations in this gene are associated with resistance to human immunodeficiency virus type 1 infections. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
CXCL14	chr5	135570679	135579279	-	ENSG00000145824.12	protein_coding	BMAC|BRAK|KEC|KS1|MIP-2g|MIP2G|NJAC|SCYB14	5q31.1	C-X-C motif chemokine ligand 14	This antimicrobial gene belongs to the cytokine gene family which encode secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded by this gene is structurally related to the CXC (Cys-X-Cys) subfamily of cytokines. Members of this subfamily are characterized by two cysteines separated by a single amino acid. This cytokine displays chemotactic activity for monocytes but not for lymphocytes, dendritic cells, neutrophils or macrophages. It has been implicated that this cytokine is involved in the homeostasis of monocyte-derived macrophages rather than in inflammation. [provided by RefSeq, Sep 2014]
CXCL16	chr17	4733526	4739922	-	ENSG00000161921.14	protein_coding	CXCLG16|SR-PSOX|SRPSOX	17p13.2	C-X-C motif chemokine ligand 16	Broad expression in lung (RPKM 40.7), testis (RPKM 23.8) and 24 other tissues
CXCL17	chr19	42428288	42443048	-	ENSG00000189377.8	protein_coding	DMC|Dcip1|UNQ473|VCC-1|VCC1	19q13.2	C-X-C motif chemokine ligand 17	The protein encoded by this gene is a mucosal chemokine that attracts immature dendritic cells and blood monocytes to the lungs. The encoded protein also promotes tumorigenesis through an angiogenic activity. Finally, this protein exhibits strong antimicrobial activity against E. coli, S. aureus, Salmonella, P. aeruginosa, and C. albicans. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]
CXCL2	chr4	74097035	74099293	-	ENSG00000081041.8	protein_coding	CINC-2a|GRO2|GROb|MGSA-b|MIP-2a|MIP2|MIP2A|SCYB2	4q13.3	C-X-C motif chemokine ligand 2	This antimicrobial gene is part of a chemokine superfamily that encodes secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CXC subfamily, is expressed at sites of inflammation and may suppress hematopoietic progenitor cell proliferation. [provided by RefSeq, Sep 2014]
CXCL3	chr4	74036589	74038807	-	ENSG00000163734.4	protein_coding	CINC-2b|GRO3|GROg|MIP-2b|MIP2B|SCYB3	4q13.3	C-X-C motif chemokine ligand 3	This antimicrobial gene encodes a member of the CXC subfamily of chemokines. The encoded protein is a secreted growth factor that signals through the G-protein coupled receptor, CXC receptor 2. This protein plays a role in inflammation and as a chemoattractant for neutrophils. [provided by RefSeq, Sep 2014]
CXCL5	chr4	73995642	73998779	-	ENSG00000163735.6	protein_coding	ENA-78|SCYB5	4q13.3	C-X-C motif chemokine ligand 5	This gene encodes a protein that is a member of the CXC subfamily of chemokines. Chemokines, which recruit and activate leukocytes, are classified by function (inflammatory or homeostatic) or by structure. This protein is proposed to bind the G-protein coupled receptor chemokine (C-X-C motif) receptor 2 to recruit neutrophils, to promote angiogenesis and to remodel connective tissues. This protein is thought to play a role in cancer cell proliferation, migration, and invasion. [provided by RefSeq, May 2013]
CXCL6	chr4	73836497	73849064	+	ENSG00000124875.9	protein_coding	CKA-3|GCP-2|GCP2|SCYB6	4q13.3	C-X-C motif chemokine ligand 6	The protein encoded by this gene is a member CXC chemokine family. The encoded protein is a chemotactic for neutrophil granulocytes and has antibacterial action against gram-negative and gram-positive bacteria. This gene and other members of the CXC chemokine gene family form a gene cluster in a region of chromosome 4q. [provided by RefSeq, Jun 2020]
CXCL8	chr4	73740506	73743716	+	ENSG00000169429.10	protein_coding	GCP-1|GCP1|IL8|LECT|LUCT|LYNAP|MDNCF|MONAP|NAF|NAP-1|NAP1|SCYB8	4q13.3	C-X-C motif chemokine ligand 8	The protein encoded by this gene is a member of the CXC chemokine family and is a major mediator of the inflammatory response. The encoded protein is commonly referred to as interleukin-8 (IL-8). IL-8 is secreted by mononuclear macrophages, neutrophils, eosinophils, T lymphocytes, epithelial cells, and fibroblasts. It functions as a chemotactic factor by guiding the neutrophils to the site of infection. Bacterial and viral products rapidly induce IL-8 expression. IL-8 also participates with other cytokines in the proinflammatory signaling cascade and plays a role in systemic inflammatory response syndrome (SIRS). This gene is believed to play a role in the pathogenesis of the lower respiratory tract infection bronchiolitis, a common respiratory tract disease caused by the respiratory syncytial virus (RSV). The overproduction of this proinflammatory protein is thought to cause the lung inflammation associated with csytic fibrosis. This proinflammatory protein is also suspected of playing a role in coronary artery disease and endothelial dysfunction. This protein is also secreted by tumor cells and promotes tumor migration, invasion, angiogenesis and metastasis. This chemokine is also a potent angiogenic factor. The binding of IL-8 to one of its receptors (IL-8RB/CXCR2) increases the permeability of blood vessels and increasing levels of IL-8 are positively correlated with increased severity of multiple disease outcomes (eg, sepsis). This gene and other members of the CXC chemokine gene family form a gene cluster in a region of chromosome 4q. [provided by RefSeq, May 2020]
CXCL9	chr4	76001275	76007488	-	ENSG00000138755.5	protein_coding	CMK|Humig|MIG|SCYB9|crg-10	4q21.1	C-X-C motif chemokine ligand 9	This antimicrobial gene is part of a chemokine superfamily that encodes secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded is thought to be involved in T cell trafficking. The encoded protein binds to C-X-C motif chemokine 3 and is a chemoattractant for lymphocytes but not for neutrophils. [provided by RefSeq, Aug 2020]
CXCR1	chr2	218162845	218166995	-	ENSG00000163464.7	protein_coding	C-C|C-C-CKR-1|CD128|CD181|CDw128a|CKR-1|CMKAR1|IL8R1|IL8RA|IL8RBA	2q35	C-X-C motif chemokine receptor 1	The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. Knockout studies in mice suggested that this protein inhibits embryonic oligodendrocyte precursor migration in developing spinal cord. This gene, IL8RB, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. [provided by RefSeq, Jul 2008]
CXCR2	chr2	218125289	218137253	+	ENSG00000180871.7	protein_coding	CD182|CDw128b|CMKAR2|IL8R2|IL8RA|IL8RB|WHIMS2	2q35	C-X-C motif chemokine receptor 2	The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. This receptor also binds to chemokine (C-X-C motif) ligand 1 (CXCL1/MGSA), a protein with melanoma growth stimulating activity, and has been shown to be a major component required for serum-dependent melanoma cell growth. This receptor mediates neutrophil migration to sites of inflammation. The angiogenic effects of IL8 in intestinal microvascular endothelial cells are found to be mediated by this receptor. Knockout studies in mice suggested that this receptor controls the positioning of oligodendrocyte precursors in developing spinal cord by arresting their migration. This gene, IL8RA, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2009]
CXCR2P1	chr2	218059155	218065729	-	ENSG00000229754.1	transcribed_unprocessed_pseudogene	CXCR2P|IL8RBP	2q35	C-X-C motif chemokine receptor 2 pseudogene 1	-
CXCR4	chr2	136114349	136118165	-	ENSG00000121966.6	protein_coding	CD184|D2S201E|FB22|HM89|HSY3RR|LAP-3|LAP3|LCR1|LESTR|NPY3R|NPYR|NPYRL|NPYY3R|WHIM|WHIMS|WHIMS1	2q22.1	C-X-C motif chemokine receptor 4	This gene encodes a CXC chemokine receptor specific for stromal cell-derived factor-1. The protein has 7 transmembrane regions and is located on the cell surface. It acts with the CD4 protein to support HIV entry into cells and is also highly expressed in breast cancer cells. Mutations in this gene have been associated with WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
CXCR6	chr3	45940933	45948353	+	ENSG00000172215.5	protein_coding	BONZO|CD186|CDw186|STRL33|TYMSTR	3p21.31	C-X-C motif chemokine receptor 6	The protein encoded by this gene is a G protein-coupled receptor with seven transmembrane domains that belongs to the CXC chemokine receptor family. This family also includes CXCR1, CXCR2, CXCR3, CXCR4, CXCR5, and CXCR7. This gene, which maps to the chemokine receptor gene cluster, is expressed in several T lymphocyte subsets and bone marrow stromal cells. The encoded protein and its exclusive ligand, chemokine ligand 16 (CCL16), are part of a signalling pathway that regulates T lymphocyte migration to various peripheral tissues (the liver, spleen red pulp, intestine, lungs, and skin) and promotes cell-cell interaction with dendritic cells and fibroblastic reticular cells. CXCR6/CCL16 also controls the localization of resident memory T lymphocytes to different compartments of the lung and maintains airway resident memory T lymphocytes, which are an important first line of defense against respiratory pathogens. The encoded protein serves as an entry coreceptor used by HIV-1 and SIV to enter target cells, in conjunction with CD4. [provided by RefSeq, Aug 2020]
CXXC1	chr18	50282343	50288304	-	ENSG00000154832.14	protein_coding	2410002I16Rik|5830420C16Rik|CFP1|CGBP|HsT2645|PCCX1|PHF18|SPP1|ZCGPC1|hCGBP	18q21.1	CXXC finger protein 1	This gene encodes a protein that functions as a transcriptional activator that binds specifically to non-methylated CpG motifs through its CXXC domain. The protein is a component of the SETD1 complex, regulates gene expression and is essential for vertebrate development. [provided by RefSeq, Sep 2015]
CXXC4	chr4	104468312	104494901	-	ENSG00000168772.10	protein_coding	IDAX	4q24	CXXC finger protein 4	This gene encodes a CXXC-type zinc finger domain-containing protein that functions as an antagonist of the canonical wingless/integrated signaling pathway. The encoded protein negatively regulates wingless/integrated signaling through interaction with the post synaptic density protein/ Drosophila disc large tumor suppressor/ zonula occludens-1 protein domain of Dishevelled, a scaffolding protein required for the stabilization of the transcriptional co-activator beta-catenin. In addition, the CXXC domain of this protein has been shown to bind unmethylated CpG dinucleotides, localize to promoters and CpG islands, and interact with the catalytic domain of methylcytosine dioxygenase ten-eleven-translocation 2, an iron and alpha-ketoglutarate-dependent dioxygenase that modifies the methylation status of DNA. In humans, a mutation in this gene has been associated with development of malignant renal cell carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
CXXC5	chr5	139647299	139683882	+	ENSG00000171604.11	protein_coding	CF5|HSPC195|RINF|WID	5q31.2	CXXC finger protein 5	The protein encoded by this gene is a retinoid-inducible nuclear protein containing a CXXC-type zinc finger motif. The encoded protein is involved in myelopoiesis, is required for DNA damage-induced p53 activation, regulates the differentiation of C2C12 myoblasts into myocytes, and negatively regulates cutaneous wound healing. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2015]
CXXC5-AS1	chr5	139648999	139649728	-	ENSG00000250635.1	lincRNA	-	5q31.2	CXXC5 antisense RNA 1	-
CYB561	chr17	63432304	63446378	-	ENSG00000008283.15	protein_coding	CYB561A1|FRRS2|ORTHYP2	17q23.3	cytochrome b561	Broad expression in adrenal (RPKM 53.1), prostate (RPKM 31.9) and 23 other tissues
CYB561A3	chr11	61348745	61362299	-	ENSG00000162144.9	protein_coding	CYBASC3|LCYTB	11q12.2	cytochrome b561 family member A3	Broad expression in adrenal (RPKM 44.3), lymph node (RPKM 18.0) and 23 other tissues
CYB561D1	chr1	109494052	109502932	+	ENSG00000174151.14	protein_coding	-	1p13.3	cytochrome b561 family member D1	-
CYB561D2	chr3	50350695	50358460	+	ENSG00000114395.10	protein_coding	101F6|TSP10|XXcos-LUCA11.4	3p21.31	cytochrome b561 family member D2	Ubiquitous expression in lung (RPKM 11.2), colon (RPKM 6.6) and 25 other tissues
CYB5A	chr18	74250847	74292016	-	ENSG00000166347.18	protein_coding	CYB5|MCB5|METAG	18q22.3	cytochrome b5 type A	The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
CYB5B	chr16	69424525	69466266	+	ENSG00000103018.16	protein_coding	CYB5-M|CYPB5M|OMB5	16q22.1	cytochrome b5 type B	Ubiquitous expression in adrenal (RPKM 70.4), colon (RPKM 17.6) and 22 other tissues
CYB5D1	chr17	7857746	7862282	+	ENSG00000182224.11	protein_coding	-	17p13.1	cytochrome b5 domain containing 1	-
CYB5D2	chr17	4143168	4187310	+	ENSG00000167740.9	protein_coding	-	17p13.2	cytochrome b5 domain containing 2	-
CYB5R3	chr22	42617840	42649568	-	ENSG00000100243.20	protein_coding	B5R|DIA1	22q13.2	cytochrome b5 reductase 3	This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010]
CYB5R4	chr6	83859643	83967424	+	ENSG00000065615.13	protein_coding	NCB5OR|cb5/cb5R|dJ676J13.1	6q14.2	cytochrome b5 reductase 4	NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by OMIM, Jan 2010]
CYB5RL	chr1	54169651	54200036	-	ENSG00000215883.10	protein_coding	-	1p32.3	cytochrome b5 reductase like	-
CYBA	chr16	88643283	88651152	-	ENSG00000051523.10	protein_coding	CGD4|p22-PHOX	16q24.2	cytochrome b-245 alpha chain	Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008]
CYBC1	chr17	 82442586	82450752	-	ENSG00000178927	protein-coding	C17orf62|CGD5|Eros	17q25.3	cytochrome b-245 chaperone 1	Ubiquitous expression in spleen (RPKM 26.0), lymph node (RPKM 25.5) and 25 other tissues
CYBRD1	chr2	171522247	171558133	+	ENSG00000071967.11	protein_coding	CYB561A2|DCYTB|FRRS3	2q31.1	cytochrome b reductase 1	This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008]
CYC1	chr8	144095027	144097525	+	ENSG00000179091.4	protein_coding	MC3DN6|UQCR4	8q24.3	cytochrome c1	This gene encodes a subunit of the cytochrome bc1 complex, which plays an important role in the mitochondrial respiratory chain by transferring electrons from the Rieske iron-sulfur protein to cytochrome c. Mutations in this gene may cause mitochondrial complex III deficiency, nuclear type 6. [provided by RefSeq, Dec 2013]
CYCS	chr7	25120091	25125361	-	ENSG00000172115.8	protein_coding	CYC|HCS|THC4	7p15.3	cytochrome c, somatic	This gene encodes a small heme protein that functions as a central component of the electron transport chain in mitochondria. The encoded protein associates with the inner membrane of the mitochondrion where it accepts electrons from cytochrome b and transfers them to the cytochrome oxidase complex. This protein is also involved in initiation of apoptosis. Mutations in this gene are associated with autosomal dominant nonsyndromic thrombocytopenia. Numerous processed pseudogenes of this gene are found throughout the human genome.[provided by RefSeq, Jul 2010]
CYCSP10	chr3	10000647	10000940	-	ENSG00000232901.1	processed_pseudogene	HCP10	3p25.3	CYCS pseudogene 10	-
CYCSP34	chr13	40863599	40863902	-	ENSG00000176268.5	processed_pseudogene	HCP34	13q14.11	CYCS pseudogene 34	-
CYFIP2	chr5	157266079	157395595	+	ENSG00000055163.19	protein_coding	DEE65|EIEE65|PIR121	5q33.3	cytoplasmic FMR1 interacting protein 2	Broad expression in kidney (RPKM 63.0), brain (RPKM 45.0) and 14 other tissues
CYHR1	chr8	144449582	144465677	-	ENSG00000187954.12	protein_coding	CHRP	8q24.3	cysteine and histidine rich 1	Ubiquitous expression in testis (RPKM 7.8), prostate (RPKM 4.8) and 25 other tissues
CYLD	chr16	50742050	50801935	+	ENSG00000083799.17	protein_coding	BRSS|CDMT|CYLD1|CYLDI|EAC|FTDALS8|MFT|MFT1|SBS|TEM|USPL2	16q12.1	CYLD lysine 63 deubiquitinase	This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
CYP11A1	chr15	74337759	74367740	-	ENSG00000140459.17	protein_coding	CYP11A|CYPXIA1|P450SCC	15q24.1	cytochrome P450 family 11 subfamily A member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]
CYP11B1	chr8	142872356	142879846	-	ENSG00000160882.11	protein_coding	CPN1|CYP11B|FHI|P450C11	8q24.3	cytochrome P450 family 11 subfamily B member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
CYP11B2	chr8	142910559	142917843	-	ENSG00000179142.2	protein_coding	ALDOS|CPN2|CYP11B|CYP11BL|CYPXIB2|P-450C18|P450C18|P450aldo	8q24.3	cytochrome P450 family 11 subfamily B member 2	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008]
CYP17A1	chr10	102830531	102837533	-	ENSG00000148795.6	protein_coding	CPT7|CYP17|P450C17|S17AH	10q24.32	cytochrome P450 family 17 subfamily A member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]
CYP17A1-AS1	chr10	102832721	102834516	+	ENSG00000203886.4	antisense	CYP17A1OS|bA753C18.3	10q24.32	CYP17A1 antisense RNA 1	Biased expression in adrenal (RPKM 111.7) and testis (RPKM 19.3)
CYP19A1	chr15	51208057	51338610	-	ENSG00000137869.14	protein_coding	ARO|ARO1|CPV1|CYAR|CYP19|CYPXIX|P-450AROM	15q21.2	cytochrome P450 family 19 subfamily A member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
CYP1A1	chr15	74719542	74725610	-	ENSG00000140465.13	protein_coding	AHH|AHRR|CP11|CYP1|CYPIA1|P1-450|P450-C|P450DX	15q24.1	cytochrome P450 family 1 subfamily A member 1	This gene, CYP1A1, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzymes endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. The gene has been associated with lung cancer risk. A related family member, CYP1A2, is located approximately 25 kb away from CYP1A1 on chromosome 15. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
CYP1A2	chr15	74748844	74756202	+	ENSG00000140505.6	protein_coding	CP12|CYPIA2|P3-450|P450(PA)	15q24.1	cytochrome P450 family 1 subfamily A member 2	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzymes endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3 untranslated region. [provided by RefSeq, Jul 2008]
CYP1B1	chr2	38066973	38109902	-	ENSG00000138061.11	protein_coding	ASGD6|CP1B|CYPIB1|GLC3A|P4501B1	2p22.2	cytochrome P450 family 1 subfamily B member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]
CYP1B1-AS1	chr2	38073447	38231651	+	ENSG00000232973.11	antisense	C2orf58	2p22.2	CYP1B1 antisense RNA 1	Low expression observed in reference dataset
CYP20A1	chr2	203238940	203305611	+	ENSG00000119004.15	protein_coding	CYP-M	2q33.2	cytochrome P450 family 20 subfamily A member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. [provided by RefSeq, Jul 2008]
CYP21A1P	chr6	32005636	32008451	+	ENSG00000204338.8	transcribed_unprocessed_pseudogene	CYP21A|CYP21P|P450c21A	6p21.33	cytochrome P450 family 21 subfamily A member 1, pseudogene	Biased expression in adrenal (RPKM 198.1) and fat (RPKM 7.0)
CYP21A2	chr6	32038265	32041670	+	ENSG00000231852.6	protein_coding	CA21H|CAH1|CPS1|CYP21|CYP21B|P450c21B	6p21.33	cytochrome P450 family 21 subfamily A member 2	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
CYP24A1	chr20	54153449	54173973	-	ENSG00000019186.9	protein_coding	CP24|CYP24|HCAI|HCINF1|P450-CC24	20q13.2	cytochrome P450 family 24 subfamily A member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
CYP26A1	chr10	93073475	93077890	+	ENSG00000095596.11	protein_coding	CP26|CYP26|P450RAI|P450RAI1	10q23.33	cytochrome P450 family 26 subfamily A member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
CYP26B1	chr2	72129238	72148038	-	ENSG00000003137.8	protein_coding	CYP26A2|P450RAI-2|P450RAI2|RHFCA	2p13.2	cytochrome P450 family 26 subfamily B member 1	This gene encodes a member of the cytochrome P450 superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
CYP26C1	chr10	93060808	93069536	+	ENSG00000187553.8	protein_coding	FFDD4	10q23.33	cytochrome P450 family 26 subfamily C member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. [provided by RefSeq, Jul 2008]
CYP27A1	chr2	218781749	218815293	+	ENSG00000135929.8	protein_coding	CP27|CTX|CYP27	2q35	cytochrome P450 family 27 subfamily A member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]
CYP27B1	chr12	57762334	57768986	-	ENSG00000111012.9	protein_coding	CP2B|CYP1|CYP1alpha|CYP27B|P450c1|PDDR|VDD1|VDDR|VDDRI|VDR	12q14.1	cytochrome P450 family 27 subfamily B member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]
CYP27C1	chr2	127184120	127220078	-	ENSG00000186684.12	protein_coding	-	2q14.3	cytochrome P450 family 27 subfamily C member 1	Biased expression in skin (RPKM 1.8), urinary bladder (RPKM 0.5) and 11 other tissues
CYP2A13	chr19	41088472	41096195	+	ENSG00000197838.4	protein_coding	CPAD|CYP2A|CYPIIA13	19q13.2	cytochrome P450 family 2 subfamily A member 13	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. Although its endogenous substrate has not been determined, it is known to metabolize 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone, a major nitrosamine specific to tobacco. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
CYP2A6	chr19	40843538	40850447	-	ENSG00000255974.7	protein_coding	CPA6|CYP2A|CYP2A3|CYPIIA6|P450C2A|P450PB	19q13.2	cytochrome P450 family 2 subfamily A member 6	This gene, CYP2A6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. [provided by RefSeq, Jul 2008]
CYP2A7	chr19	40875439	40882752	-	ENSG00000198077.10	protein_coding	CPA7|CPAD|CYP2A|CYPIIA7|P450-IIA4	19q13.2	cytochrome P450 family 2 subfamily A member 7	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
CYP2AB1P	chr3	183895900	183910936	-	ENSG00000233441.6	transcribed_unprocessed_pseudogene	-	3q27.1	cytochrome P450 family 2 subfamily AB member 1, pseudogene	-
CYP2B6	chr19	40991299	41018398	+	ENSG00000197408.8	protein_coding	CPB6|CYP2B|CYP2B7|CYP2B7P|CYPIIB6|EFVM|IIB1|P450	19q13.2	cytochrome P450 family 2 subfamily B member 6	This gene, CYP2B6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
CYP2B7P	chr19	40924219	40950660	+	ENSG00000256612.7	transcribed_unprocessed_pseudogene	CYP2B|CYP2B7|CYP2B7P1	19q13.2	cytochrome P450 family 2 subfamily B member 7, pseudogene	Biased expression in lung (RPKM 25.4), liver (RPKM 15.7) and 3 other tissues
CYP2C18	chr10	94683621	94736190	+	ENSG00000108242.12	protein_coding	CPCI|CYP2C|CYP2C17|P450-6B/29C|P450IIC17	10q23.33	cytochrome P450 family 2 subfamily C member 18	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum but its specific substrate has not yet been determined. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. An additional gene, CYP2C17, was once thought to exist; however, CYP2C17 is now considered an artefact based on a chimera of CYP2C18 and CYP2C19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
CYP2C19	chr10	94762624	94853260	+	ENSG00000165841.9	protein_coding	CPCJ|CYP2C|CYPIIC17|CYPIIC19|P450C2C|P450IIC19	10q23.33	cytochrome P450 family 2 subfamily C member 19	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]
CYP2C8	chr10	95036772	95069497	-	ENSG00000138115.13	protein_coding	CPC8|CYP2C8DM|CYPIIC8|MP-12/MP-20	10q23.33	cytochrome P450 family 2 subfamily C member 8	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
CYP2C9	chr10	94938658	94989390	+	ENSG00000138109.9	protein_coding	CPC9|CYP2C|CYP2C10|CYPIIC9|P450IIC9	10q23.33	cytochrome P450 family 2 subfamily C member 9	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by rifampin. The enzyme is known to metabolize many xenobiotics, including phenytoin, tolbutamide, ibuprofen and S-warfarin. Studies identifying individuals who are poor metabolizers of phenytoin and tolbutamide suggest that this gene is polymorphic. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]
CYP2D6	chr22	42126499	42130906	-	ENSG00000100197.20	protein_coding	CPD6|CYP2D|CYP2D7AP|CYP2D7BP|CYP2D7P2|CYP2D8P2|CYP2DL1|CYPIID6|P450-DB1|P450C2D|P450DB1	22q13.2	cytochrome P450 family 2 subfamily D member 6	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzymes substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
CYP2D7	chr22	42140203	42144577	-	ENSG00000205702.10	polymorphic_pseudogene	CYP2D|CYP2D6|CYP2D7AP|CYP2D7P|CYP2D7P1|CYP2D@|P450C2D|P450DB1|RNA40057	22q13.2	cytochrome P450 family 2 subfamily D member 7 (gene/pseudogene)	Broad expression in liver (RPKM 9.7), small intestine (RPKM 3.1) and 14 other tissues
CYP2D8P	chr22	42149886	42155001	-	ENSG00000226450.2	unprocessed_pseudogene	CYP2D8P1|CYP2DP1	22q13.2	ccytochrome P450 family 2 subfamily D member 8, pseudogene	-
CYP2F1	chr19	41114432	41128366	+	ENSG00000197446.8	protein_coding	C2F1|CYP2F|CYPIIF1	19q13.2	cytochrome P450 family 2 subfamily F member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to dehydrogenate 3-methylindole, an endogenous toxin derived from the fermentation of tryptophan, as well as xenobiotic substrates such as naphthalene and ethoxycoumarin. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
CYP2F2P	chr19	40818721	40826772	-	ENSG00000237118.2	unitary_pseudogene	CYP2F1P	19q13.2	cytochrome P450 family 2 subfamily F member 2, pseudogene	-
CYP2R1	chr11	14877440	14892252	-	ENSG00000186104.10	protein_coding	-	11p15.2	cytochrome P450 family 2 subfamily R member 1	Ubiquitous expression in skin (RPKM 2.2), testis (RPKM 2.0) and 25 other tissues
CYP2S1	chr19	41193049	41207539	+	ENSG00000167600.13	protein_coding	CYPIIS1	19q13.2	cytochrome P450 family 2 subfamily S member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. [provided by RefSeq, Jul 2008]
CYP2T1P	chr19	40808525	40811390	-	ENSG00000233622.1	unitary_pseudogene	CYP2T2P	19q13.2	cytochrome P450 family 2 subfamily T member 1, pseudogene	-
CYP2T3P	chr19	41134722	41137308	+	ENSG00000268529.1	unprocessed_pseudogene	-	19q13.2	cytochrome P450 family 2 subfamily T member 3, pseudogene	-
CYP2U1	chr4	107931369	107953457	+	ENSG00000155016.17	protein_coding	P450TEC|SPG49|SPG56	4q25	cytochrome P450 family 2 subfamily U member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and other long chain fatty acids. [provided by RefSeq, Jul 2008]
CYP2W1	chr7	983199	989640	+	ENSG00000073067.13	protein_coding	-	7p22.3	cytochrome P450 family 2 subfamily W member 1	Biased expression in skin (RPKM 2.9), duodenum (RPKM 2.7) and 8 other tissues
CYP3A4	chr7	99756960	99784265	-	ENSG00000160868.14	protein_coding	CP33|CP34|CYP3A|CYP3A3|CYPIIIA3|CYPIIIA4|HLP|NF-25|P450C3|P450PCN1|VDDR3	7q22.1	cytochrome P450 family 3 subfamily A member 4	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs in use today, including acetaminophen, codeine, cyclosporin A, diazepam, erythromycin, and chloroquine. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2020]
CYP3A43	chr7	99828013	99866102	+	ENSG00000021461.16	protein_coding	-	7q22.1	cytochrome P450 family 3 subfamily A member 43	Biased expression in liver (RPKM 2.4), testis (RPKM 0.3) and 1 other tissue
CYP3A5	chr7	99648194	99679998	-	ENSG00000106258.13	protein_coding	CP35|CYPIIIA5|P450PCN3|PCN3	7q22.1	cytochrome P450 family 3 subfamily A member 5	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein metabolizes drugs as well as the steroid hormones testosterone and progesterone. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Two pseudogenes of this gene have been identified within this cluster on chromosome 7. Expression of this gene is widely variable among populations, and a single nucleotide polymorphism that affects transcript splicing has been associated with susceptibility to hypertensions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
CYP3A51P	chr7	99685145	99700034	-	ENSG00000282277.1	unprocessed_pseudogene	CYP3A5-de13c|CYP3A5-de1b2b|CYP3A5P1|CYP3AP1	7q22.1	cytochrome P450 family 3 subfamily A member 51, pseudogene	This locus represents a CYP3A pseudogene that is present within a cluster of CYP3A (cytochrome P450, family 3, subfamily A) genes on chromosome 7. This pseudogene is located between the CYP3A7 and CYP3A5 family members. It contains duplicates of exons 1, 2 and 13 that are found in the functional genes. Readthrough transcription exists between the CYP3A7 gene and this pseudogene, where the readthrough transcript includes CYP3A7 exons 1-13 and exons 2 and 13 of this pseudogene, as represented in GeneID:100861540. This pseudogene is not known to be independently transcribed. [provided by RefSeq, Feb 2012]
CYP3A7	chr7	99705037	99735196	-	ENSG00000160870.12	protein_coding	CP37|CYPIIIA7|P-450(HFL33)|P-450111A7|P450-HFLA|P450HLp2	7q22.1	cytochrome P450 family 3 subfamily A member 7	This gene encodes a member of the cytochrome P450 superfamily of enzymes, which participate in drug metabolism and the synthesis of cholesterol, steroids and other lipids. This enzyme hydroxylates testosterone and dehydroepiandrosterone 3-sulphate, which is involved in the formation of estriol during pregnancy. This gene is part of a cluster of related genes on chromosome 7q21.1. Naturally-occurring readthrough transcription occurs between this gene and the downstream CYP3A51P pseudogene and is represented by GeneID:100861540. [provided by RefSeq, Jan 2015]
CYP3A7-CYP3A51P	chr7	99684957	99735102	-	ENSG00000282301.1	protein_coding	CYP3A7|CYP3A7-3AP1|CYP3A7-CYP3AP1|CYP3A7.1L|CYPIIIA7	7q22.1	CYP3A7-CYP3A51P readthrough	This locus represents readthrough transcription between the neighboring CYP3A7 (cytochrome P450, family 3, subfamily A, polypeptide 7) and CYP3A51P (cytochrome P450, family 3, subfamily A, polypeptide 51, pseudogene) genes, which are members of the CYP3A gene cluster on chromosome 7. The downstream pseudogene is not known to be independently transcribed. The readthrough transcript includes CYP3A7 exons 1-13 and exons 2 and 13 of the pseudogene. It encodes a CYP3A isoform with a novel C-terminus. This isoform is only expressed in alleles containing a T nucleotide at the -6 position of a splice acceptor in the pseudogene, which enables correct splicing of the upstream CYP3A7 exons to the pseudogene exons. It should be noted that the reference genome sequence represents the CYP3A7_39256 T->A allele, and thus this haplotype is unlikely to produce the readthrough transcript. [provided by RefSeq, Jan 2015]
CYP46A1	chr14	99684304	99727301	+	ENSG00000036530.8	protein_coding	CP46|CYP46	14q32.2	cytochrome P450 family 46 subfamily A member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [provided by RefSeq, Jul 2008]
CYP4A11	chr1	46929177	46941484	-	ENSG00000187048.12	protein_coding	CP4Y|CYP4A2|CYP4AII|CYPIVA11	1p33	cytochrome P450 family 4 subfamily A member 11	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates medium-chain fatty acids such as laurate and myristate. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
CYP4A22	chr1	47137435	47149741	+	ENSG00000162365.11	protein_coding	-	1p33	cytochrome P450 family 4 subfamily A member 22	Biased expression in liver (RPKM 60.8) and kidney (RPKM 24.2)
CYP4B1	chr1	46757838	46819413	+	ENSG00000142973.13	protein_coding	CYPIVB1|P-450HP	1p33	cytochrome P450 family 4 subfamily B member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
CYP4F12	chr19	15672757	15697174	+	ENSG00000186204.14	protein_coding	CYPIVF12|F22329_1	19p13.12	cytochrome P450 family 4 subfamily F member 12	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein likely localizes to the endoplasmic reticulum. When expressed in yeast the enzyme is capable of oxdizing arachidonic acid. It can also catalyze the epoxidation of 22:6n-3 and 22:5n-3 polyunsaturated long-chain fatty acids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
CYP4F22	chr19	15508493	15552317	+	ENSG00000171954.12	protein_coding	ARCI5|INLNE|LI3	19p13.12	cytochrome P450 family 4 subfamily F member 22	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19 and encodes an enzyme thought to play a role in the 12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3. [provided by RefSeq, Jul 2008]
CYP4F23P	chr19	15564074	15584709	+	ENSG00000269516.6	transcribed_unprocessed_pseudogene	-	19p13.12	cytochrome P450 family 4 subfamily F member 23, pseudogene	-
CYP4F3	chr19	15640897	15662825	+	ENSG00000186529.15	protein_coding	CPF3|CYP4F|CYPIVF3|LTB4H	19p13.12	cytochrome P450 family 4 subfamily F member 3	This gene, CYP4F3, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F8, is approximately 18 kb away. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2019]
CYP4V2	chr4	186191520	186213456	+	ENSG00000145476.15	protein_coding	BCD|CYP4AH1	4q35.1-q35.2	cytochrome P450 family 4 subfamily V member 2	This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008]
CYP4X1	chr1	47023568	47050751	+	ENSG00000186377.7	protein_coding	CYPIVX1	1p33|1	cytochrome P450 family 4 subfamily X member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes and is located within a cluster of genes belonging to this superfamily on chromosome 1. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The expression pattern of a similar rat protein suggests that this protein may be involved in neurovascular function in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
CYP4Z1	chr1	47067488	47118319	+	ENSG00000186160.4	protein_coding	CYP4A20	1p33	cytochrome P450 family 4 subfamily Z member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. [provided by RefSeq, Jul 2008]
CYP51A1	chr7	92112151	92142952	-	ENSG00000001630.15	protein_coding	CP51|CYP51|CYPL1|LDM|P450-14DM|P450L1	7q21.2	cytochrome P450 family 51 subfamily A member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
CYP51A1-AS1	chr7	92134604	92180725	+	ENSG00000188693.7	antisense	LRRD1-AS1	7q21.2	CYP51A1 antisense RNA 1	Biased expression in testis (RPKM 2.3), stomach (RPKM 0.8) and 5 other tissues
CYP51A1P3	chr6	148478693	148480763	+	ENSG00000215223.3	processed_pseudogene	CYP51P3	6q24.3	cytochrome P450 family 51 subfamily A member 1 pseudogene 3	-
CYP7A1	chr8	58490178	58500236	-	ENSG00000167910.3	protein_coding	CP7A|CYP7|CYPVII	8q12.1	cytochrome P450 family 7 subfamily A member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010]
CYP7B1	chr8	64587763	64798761	-	ENSG00000172817.3	protein_coding	CBAS3|CP7B|SPG5A	8q12.3	cytochrome P450 family 7 subfamily B member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]
CYP8B1	chr3	42856005	42876165	-	ENSG00000180432.5	protein_coding	CP8B|CYP12	3p22.1	cytochrome P450 family 8 subfamily B member 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it is intronless. [provided by RefSeq, Jul 2008]
CYREN	chr7	 135092303	135172469	-	ENSG00000122783	protein-coding	C7orf49|MRI|MRI-2	7q33	cell cycle regulator of NHEJ	Ubiquitous expression in lung (RPKM 6.0), spleen (RPKM 6.0) and 25 other tissues
CYRIB	chr8	 129839593	130017129	-	ENSG00000153310	protein-coding	BM-009|CYRI|CYRI-B|FAM49B|L1	8q24.21	CYFIP related Rac1 interactor B	-
CYS1	chr2	10056780	10080944	-	ENSG00000205795.4	protein_coding	-	2p25.1	cystin 1	-
CYSLTR2	chr13	48653711	48711226	+	ENSG00000152207.7	protein_coding	CYSLT2|CYSLT2R|GPCR21|HG57|HPN321|KPG_011|PSEC0146|hGPCR21	13q14.2	cysteinyl leukotriene receptor 2	The cysteinyl leukotrienes LTC4, LTD4, and LTE4 are important mediators of human bronchial asthma. Pharmacologic studies have determined that cysteinyl leukotrienes activate at least 2 receptors, the protein encoded by this gene and CYSLTR1. This encoded receptor is a member of the superfamily of G protein-coupled receptors. It seems to play a major role in endocrine and cardiovascular systems. [provided by RefSeq, Jul 2008]
CYSRT1	chr9	137224635	137226311	+	ENSG00000197191.4	protein_coding	C9orf169	9q34.3	cysteine rich tail 1	Biased expression in esophagus (RPKM 16.4), skin (RPKM 3.6) and 2 other tissues
CYSTM1	chr5	140174642	140282052	+	ENSG00000120306.9	protein_coding	C5orf32|ORF1-FL49	5q31.3	cysteine rich transmembrane module containing 1	Biased expression in stomach (RPKM 391.9), duodenum (RPKM 108.1) and 13 other tissues
CYTH1	chr17	78674048	78782297	-	ENSG00000108669.16	protein_coding	B2-1|CYTOHESIN-1|D17S811E|PSCD1|SEC7	17q25.3	cytohesin 1	The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This gene is highly expressed in natural killer and peripheral T cells, and regulates the adhesiveness of integrins at the plasma membrane of lymphocytes. A pseudogene of this gene has been defined on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
CYTH2	chr19	48469032	48482314	+	ENSG00000105443.13	protein_coding	ARNO|CTS18|CTS18.1|PSCD2|PSCD2L|SEC7L|Sec7p-L|Sec7p-like|cytohesin-2	19q13.33	cytohesin 2	The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. The encoded protein exhibits GEP activity in vitro with ARF1, ARF3, and ARF6 and is 83% homologous to CYTH1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
CYTH3	chr7	6161776	6272644	-	ENSG00000008256.15	protein_coding	ARNO3|GRP1|PSCD3|cytohesin-3	7p22.1	cytohesin 3	This gene encodes a member of the PSCD (pleckstrin homology, Sec7 and coiled-coil domains) family. PSCD family members have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This encoded protein is involved in the control of Golgi structure and function, and it may have a physiological role in regulating ADP-ribosylation factor protein 6 (ARF) functions, in addition to acting on ARF1. [provided by RefSeq, Jul 2008]
CYTH4	chr22	37282027	37315345	+	ENSG00000100055.20	protein_coding	CYT4|DJ63G5.1|PSCD4|cytohesin-4	22q13.1	cytohesin 4	This gene encodes a member of the PSCD family of proteins, which have an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family function as GEPs for ADP-ribosylation factors (ARFs), which are guanine nucleotide-binding proteins involved in vesicular trafficking pathways. This protein exhibits GEP activity in vitro with ARF1 and ARF5, but is inactive with ARF6. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
CYTIP	chr2	157414619	157488961	-	ENSG00000115165.9	protein_coding	B3-1|CASP|CYBR|CYTHIP|HE|PSCDBP	2q24.1	cytohesin 1 interacting protein	The protein encoded by this gene contains 2 leucine zipper domains and a putative C-terminal nuclear targeting signal, but does not have any hydrophobic regions. This protein is expressed weakly in resting NK and T cells. The encoded protein modulates the activation of ARF genes by CYTH1. This protein interacts with CYTH1 and SNX27 proteins and may act to sequester CYTH1 protein in the cytoplasm.[provided by RefSeq, Aug 2008]
CYTL1	chr4	5014586	5019472	-	ENSG00000170891.10	protein_coding	C17|C4orf4	4p16.2	cytokine like 1	C17 is a cytokine-like protein specifically expressed in bone marrow and cord blood mononuclear cells that bear the CD34 (MIM 142230) surface marker (Liu et al., 2000 [PubMed 10857752]).[supplied by OMIM, Mar 2008]
CYTOR	chr2	87455368	87606805	+	ENSG00000222041.10	lincRNA	C2orf59|LINC00152|NCRNA00152	2p11.2	cytoskeleton regulator RNA	This gene produces a long non-coding RNA that is overexpressed in cancer cells and promotes cell proliferation and epithelial-mesenchymal transition. This RNA may bind enhancer of zeste homolog 2 and participate in the transcriptional silencing of tumor suppressor genes. It may act as a sponge for microRNAs. Alternatively spliced variants have been observed. [provided by RefSeq, Dec 2017]
CYYR1	chr21	26466209	26573284	-	ENSG00000166265.11	protein_coding	C21orf95	21q21.3	cysteine and tyrosine rich 1	Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
CZIB	chr1	 53214099	53220634	-	ENSG00000162384	protein-coding	C1orf123	1p32.3	CXXC motif containing zinc binding protein	Ubiquitous expression in fat (RPKM 26.2), endometrium (RPKM 21.0) and 25 other tissues
D2HGDH	chr2	241734579	241768816	+	ENSG00000180902.17	protein_coding	D2HGD	2q37.3	D-2-hydroxyglutarate dehydrogenase	This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]
DAAM1	chr14	59188646	59371405	+	ENSG00000100592.15	protein_coding	-	14q23.1	dishevelled associated activator of morphogenesis 1	Ubiquitous expression in skin (RPKM 17.9), esophagus (RPKM 12.9) and 25 other tissues
DAAM2	chr6	39792298	39904877	+	ENSG00000146122.16	protein_coding	NPHS24|dJ90A20A.1	6p21.2	dishevelled associated activator of morphogenesis 2	Broad expression in brain (RPKM 23.5), esophagus (RPKM 10.9) and 20 other tissues
DAB1	chr1	56994778	58546734	-	ENSG00000173406.15	protein_coding	SCA37	1p32.2-p32.1	DAB adaptor protein 1	The laminar organization of multiple neuronal types in the cerebral cortex is required for normal cognitive function. In mice, the disabled-1 gene plays a central role in brain development, directing the migration of cortical neurons past previously formed neurons to reach their proper layer. This gene is similar to disabled-1, and the protein encoded by this gene is thought to be a signal transducer that interacts with protein kinase pathways to regulate neuronal positioning in the developing brain. [provided by RefSeq, Jan 2017]
DAB2	chr5	39371675	39462300	-	ENSG00000153071.14	protein_coding	DOC-2|DOC2	5p13.1	DAB adaptor protein 2	This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
DAB2IP	chr9	121567057	121785530	+	ENSG00000136848.16	protein_coding	AF9Q34|AIP-1|AIP1|DIP1/2	9q33.2	DAB2 interacting protein	DAB2IP is a Ras (MIM 190020) GTPase-activating protein (GAP) that acts as a tumor suppressor. The DAB2IP gene is inactivated by methylation in prostate and breast cancers (Yano et al., 2005 [PubMed 15386433]).[supplied by OMIM, May 2010]
DACH1	chr13	71437966	71867192	-	ENSG00000276644.4	protein_coding	DACH	13q21.33	dachshund family transcription factor 1	This gene encodes a chromatin-associated protein that associates with other DNA-binding transcription factors to regulate gene expression and cell fate determination during development. The protein contains a Ski domain that is highly conserved from Drosophila to human. Expression of this gene is lost in some forms of metastatic cancer, and is correlated with poor prognosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
DACT1	chr14	58633967	58648321	+	ENSG00000165617.14	protein_coding	DAPPER|DAPPER1|DPR1|FRODO|HDPR1|TBS2|THYEX3	14q23.1	dishevelled binding antagonist of beta catenin 1	The protein encoded by this gene belongs to the dapper family, characterized by the presence of PDZ-binding motif at the C-terminus. It interacts with, and positively regulates dishevelled-mediated signaling pathways during development. Depletion of this mRNA from xenopus embryos resulted in loss of notochord and head structures, and mice lacking this gene died shortly after birth from severe posterior malformations. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
DACT2	chr6	168292830	168319754	-	ENSG00000164488.11	protein_coding	C6orf116|DAPPER2|DPR2|bA503C24.7	6q27	dishevelled binding antagonist of beta catenin 2	Biased expression in placenta (RPKM 6.6), prostate (RPKM 2.5) and 8 other tissues
DACT3	chr19	46647612	46661138	-	ENSG00000197380.10	protein_coding	DAPPER3|RRR1	19q13.32	dishevelled binding antagonist of beta catenin 3	Broad expression in brain (RPKM 11.1), endometrium (RPKM 7.4) and 17 other tissues
DAD1	chr14	22564905	22589269	-	ENSG00000129562.10	protein_coding	OST2	14q11.2	defender against cell death 1	DAD1, the defender against apoptotic cell death, was initially identified as a negative regulator of programmed cell death in the temperature sensitive tsBN7 cell line.  The DAD1 protein disappeared in temperature-sensitive cells following a shift to the nonpermissive temperature, suggesting that loss of the DAD1 protein triggered apoptosis.  DAD1 is believed to be a tightly associated subunit of oligosaccharyltransferase both in the intact membrane and in the purified enzyme, thus reflecting the essential nature of N-linked glycosylation in eukaryotes. [provided by RefSeq, Jul 2008]
DAG1	chr3	49468703	49535618	+	ENSG00000173402.11	protein_coding	156DAG|A3a|AGRNR|DAG|LGMDR16|MDDGA9|MDDGC7|MDDGC9	3p21.31	dystroglycan 1	This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Nov 2015]
DAGLA	chr11	61680433	61747001	+	ENSG00000134780.9	protein_coding	C11orf11|DAGL(ALPHA)|DAGLALPHA|NSDDR	11q12.2	diacylglycerol lipase alpha	This gene encodes a diacylglycerol lipase. The encoded enzyme is involved in the biosynthesis of the endocannabinoid 2-arachidonoyl-glycerol.[provided by RefSeq, Nov 2010]
DAGLB	chr7	6409126	6484190	-	ENSG00000164535.14	protein_coding	DAGLBETA|KCCR13L	7p22.1	diacylglycerol lipase beta	Ubiquitous expression in bone marrow (RPKM 8.1), brain (RPKM 8.1) and 25 other tissues
DALRD3	chr3	49015488	49022293	-	ENSG00000178149.16	protein_coding	DEE86|EIEE86	3p21.31	DALR anticodon binding domain containing 3	The exact function of this gene is not known. It encodes a protein with a DALR anticodon binding domain similar to that of class Ia aminoacyl tRNA synthetases. This gene is located in a cluster of genes (with a complex sense-anti-sense genome architecture) on chromosome 3, and contains two micro RNA (miRNA) precursors (mir-425 and mir-191) in one of its introns. Preferential expression of this gene (the miRNAs and other genes in the cluster) in testis suggests a role of this gene in spermatogenesis (PMID:19906709). [provided by RefSeq, Feb 2013]
DANCR	chr4	52712404	52720351	+	ENSG00000226950.6	processed_transcript	AGU2|ANCR|KIAA0114|SNHG13|lncRNA-ANCR	4q12	differentiation antagonizing non-protein coding RNA	This gene produces a long non-coding RNA that functions as a negative regulator of cell differentiation. This transcript associates with enhancer of zeste homolog 2 to repress expression of the runt related transcription factor 2 gene. Increased expression of this transcript may be associated with cancer. Alternatively spliced transcript variants have been observed. [provided by RefSeq, Dec 2016]
DAND5	chr19	12965159	12974762	+	ENSG00000179284.5	protein_coding	CER2|CERL2|CKTSF1B3|COCO|CRL2|DANTE|GREM3|SP1	19p13.13	DAN domain BMP antagonist family member 5	This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to bind Nodal and to inhibit the Nodal signaling pathway which patterns left/right body asymmetry. [provided by RefSeq, Jul 2008]
DAO	chr12	108858932	108901043	+	ENSG00000110887.7	protein_coding	DAAO|DAMOX|OXDA	12q24.11	D-amino acid oxidase	This gene encodes the peroxisomal enzyme D-amino acid oxidase. The enzyme is a flavoprotein which uses flavin adenine dinucleotide (FAD) as its prosthetic group. Its substrates include a wide variety of D-amino acids, but it is inactive on the naturally occurring L-amino acids. Its biological function is not known; it may act as a detoxifying agent which removes D-amino acids that accumulate during aging. In mice, it degrades D-serine, a co-agonist of the NMDA receptor. This gene may play a role in the pathophysiology of schizophrenia. [provided by RefSeq, Jul 2008]
DAP	chr5	10679230	10761272	-	ENSG00000112977.15	protein_coding	-	5p15.2	death associated protein	Ubiquitous expression in thyroid (RPKM 62.5), urinary bladder (RPKM 56.2) and 25 other tissues
DAP3	chr1	155687960	155739010	+	ENSG00000132676.15	protein_coding	DAP-3|MRP-S29|MRPS29|S29mt|bMRP-10	1q22	death associated protein 3	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that also participates in apoptotic pathways which are initiated by tumor necrosis factor-alpha, Fas ligand, and gamma interferon. This protein potentially binds ATP/GTP and might be a functional partner of the mitoribosomal protein S27. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Dec 2010]
DAP3P1	chr1	155586644	155602197	+	ENSG00000225082.2	unprocessed_pseudogene	DAP3P|MRPS29P1	1q22	death associated protein 3 pseudogene 1	-
DAP3P2	chr2	171491422	171491931	+	ENSG00000228507.1	processed_pseudogene	MRPS29P2	2q31.1	death associated protein 3 pseudogene 2	-
DAPK1	chr9	87497228	87708633	+	ENSG00000196730.12	protein_coding	DAPK|ROCO3	9q21.33	death associated protein kinase 1	Death-associated protein kinase 1 is a positive mediator of gamma-interferon induced programmed cell death. DAPK1 encodes a structurally unique 160-kD calmodulin dependent serine-threonine kinase that carries 8 ankyrin repeats and 2 putative P-loop consensus sites. It is a tumor suppressor candidate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
DAPK2	chr15	63907036	64072033	-	ENSG00000035664.11	protein_coding	DRP-1|DRP1	15q22.31	death associated protein kinase 2	This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that of death-associated protein kinase 1 (DAPK1), a positive regulator of programmed cell death. Overexpression of this gene was shown to induce cell apoptosis.  It uses multiple polyadenylation sites. [provided by RefSeq, Jul 2008]
DAPK3	chr19	3958453	3971123	-	ENSG00000167657.13	protein_coding	DLK|ZIP|ZIPK	19p13.3	death associated protein kinase 3	Death-associated protein kinase 3 (DAPK3) induces morphological changes in apoptosis when overexpressed in mammalian cells.  These results suggest that DAPK3 may play a role in the induction of apoptosis. [provided by RefSeq, Jul 2008]
DAPL1	chr2	158795317	158862781	+	ENSG00000163331.11	protein_coding	-	2q24.1	death associated protein like 1	-
DAPP1	chr4	99816833	99870154	+	ENSG00000070190.12	protein_coding	BAM32	4q23	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	Broad expression in lymph node (RPKM 16.8), appendix (RPKM 14.4) and 15 other tissues
DARS1	chr2	 135905881	135985684	-	ENSG00000115866	protein-coding	DARS|HBSL|aspRS	2q21.3	aspartyl-tRNA synthetase 1	This gene encodes a member of a multienzyme complex that functions in mediating the attachment of amino acids to their cognate tRNAs. The encoded protein ligates L-aspartate to tRNA(Asp). Mutations in this gene have been found in patients showing hypomyelination with brainstem and spinal cord involvement and leg spasticity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
DARS1-AS1	chr2	 135985176	136007542	+	ENSG00000231890	ncRNA	DARS-AS1	2q21.3	DARS1 antisense RNA 1	-
DARS2	chr1	173824503	173858546	+	ENSG00000117593.9	protein_coding	ASPRS|LBSL|MT-ASPRS|mtAspRS	1q25.1	aspartyl-tRNA synthetase 2, mitochondrial	The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009]
DAW1	chr2	227871054	227924344	+	ENSG00000123977.9	protein_coding	ODA16|WDR69	2q36.3	dynein assembly factor with WD repeats 1	Predicted to act upstream of or within several processes, including cerebrospinal fluid circulation; determination of left/right symmetry; and outer dynein arm assembly. Predicted to be located in cilium and extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
DAXX	chr6	33318558	33329286	-	ENSG00000204209.11	protein_coding	BING2|DAP6|EAP1|SMIM40	6p21.32	death domain associated protein	This gene encodes a multifunctional protein that resides in multiple locations in the nucleus and in the cytoplasm. It interacts with a wide variety of proteins, such as apoptosis antigen Fas, centromere protein C, and transcription factor erythroblastosis virus E26 oncogene homolog 1. In the nucleus, the encoded protein functions as a potent transcription repressor that binds to sumoylated transcription factors. Its repression can be relieved by the sequestration of this protein into promyelocytic leukemia nuclear bodies or nucleoli. This protein also associates with centromeres in G2 phase. In the cytoplasm, the encoded protein may function to regulate apoptosis. The subcellular localization and function of this protein are modulated by post-translational modifications, including sumoylation, phosphorylation and polyubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
DAZAP1	chr19	1407569	1435687	+	ENSG00000071626.16	protein_coding	-	19p13.3	DAZ associated protein 1	Ubiquitous expression in testis (RPKM 19.6), appendix (RPKM 11.8) and 25 other tissues
DAZAP2	chr12	51238292	51271362	+	ENSG00000183283.15	protein_coding	PRTB	12q13.13	DAZ associated protein 2	This gene encodes a proline-rich protein which interacts with the deleted in azoospermia (DAZ) and the deleted in azoospermia-like gene through the DAZ-like repeats. This protein also interacts with the transforming growth factor-beta signaling molecule SARA (Smad anchor for receptor activation), eukaryotic initiation factor 4G, and an E3 ubiquitinase that regulates its stability in splicing factor containing nuclear speckles. The encoded protein may function in various biological and pathological processes including spermatogenesis, cell signaling and transcription regulation, formation of stress granules during translation arrest, RNA splicing, and pathogenesis of multiple myeloma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
DBF4	chr7	87876216	87909541	+	ENSG00000006634.7	protein_coding	ASK|CHIF|DBF4A|ZDBF1	7q21.12	DBF4 zinc finger	Biased expression in testis (RPKM 30.3), bone marrow (RPKM 10.3) and 9 other tissues
DBF4B	chr17	44708608	44752264	+	ENSG00000161692.17	protein_coding	ASKL1|CHIFB|DRF1|ZDBF1B	17q21.31|17q21	DBF4 zinc finger B	This gene encodes a regulator of the cell division cycle 7 homolog (S. cerevisiae) protein, a serine-threonine kinase which links cell cycle regulation to genome duplication. This protein localizes to the nucleus and, in complex with the cell division cycle 7 homolog (S. cerevisiae) protein, may facilitate M phase progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]
DBH	chr9	133636360	133659344	+	ENSG00000123454.10	protein_coding	DBM|ORTHYP1	9q34.2	dopamine beta-hydroxylase	The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. The encoded protein, expressed in neuroscretory vesicles and chromaffin granules of the adrenal medulla, catalyzes the conversion of dopamine to norepinephrine, which functions as both a hormone and as the main neurotransmitter of the sympathetic nervous system. The enzyme encoded by this gene exists exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. Mutations in this gene cause dopamine beta-hydroxylate deficiency in human patients, characterized by deficits in autonomic and cardiovascular function, including hypotension and ptosis. Polymorphisms in this gene may play a role in a variety of psychiatric disorders. [provided by RefSeq, Aug 2017]
DBI	chr2	119366921	119372560	+	ENSG00000155368.16	protein_coding	ACBD1|ACBP|CCK-RP|EP	2q14.2	diazepam binding inhibitor, acyl-CoA binding protein	This gene encodes diazepam binding inhibitor, a protein that is regulated by hormones and is involved in lipid metabolism and the displacement of beta-carbolines and benzodiazepines, which modulate signal transduction at type A gamma-aminobutyric acid receptors located in brain synapses. The protein is conserved from yeast to mammals, with the most highly conserved domain consisting of seven contiguous residues that constitute the hydrophobic binding site for medium- and long-chain acyl-Coenzyme A esters. Diazepam binding inhibitor is also known to mediate the feedback regulation of pancreatic secretion and the postprandial release of cholecystokinin, in addition to its role as a mediator in corticotropin-dependent adrenal steroidogenesis. Three pseudogenes located on chromosomes 6, 8 and 16 have been identified. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
DBN1	chr5	177456608	177474401	-	ENSG00000113758.13	protein_coding	D0S117E	5q35.3	drebrin 1	The protein encoded by this gene is a cytoplasmic actin-binding protein thought to play a role in the process of neuronal growth. It is a member of the drebrin family of proteins that are developmentally regulated in the brain. A decrease in the amount of this protein in the brain has been implicated as a possible contributing factor in the pathogenesis of memory disturbance in Alzheimers disease. At least two alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
DBNDD1	chr16	90004865	90020128	-	ENSG00000003249.13	protein_coding	-	16q24.3	dysbindin domain containing 1	-
DBNDD2	chr20	45406057	45410610	+	ENSG00000244274.7	protein_coding	C20orf35|CK1BP|HSMNP1	20q13.12	dysbindin domain containing 2	Broad expression in brain (RPKM 80.2), heart (RPKM 39.7) and 20 other tissues
DBNL	chr7	44044640	44069456	+	ENSG00000136279.20	protein_coding	ABP1|HIP-55|HIP55|SH3P7	7p13	drebrin like	Ubiquitous expression in esophagus (RPKM 54.1), spleen (RPKM 52.7) and 25 other tissues
DBP	chr19	48630030	48637438	-	ENSG00000105516.10	protein_coding	DABP|taxREB302	19q13.33	D-box binding PAR bZIP transcription factor	The protein encoded by this gene is a member of the PAR bZIP transcription factor family and binds to specific sequences in the promoters of several genes, such as albumin, CYP2A4, and CYP2A5. The encoded protein can bind DNA as a homo- or heterodimer and is involved in the regulation of some circadian rhythm genes. [provided by RefSeq, Jul 2014]
DBR1	chr3	138161012	138174949	-	ENSG00000138231.12	protein_coding	-	3q22.3	debranching RNA lariats 1	Ubiquitous expression in stomach (RPKM 5.7), bone marrow (RPKM 5.2) and 25 other tissues
DCAF1	chr3	51395867	51500002	-	ENSG00000145041.15	protein_coding	RIP|VPRBP	3p21.2	DDB1 and CUL4 associated factor 1	Broad expression in testis (RPKM 27.5), thyroid (RPKM 8.3) and 24 other tissues
DCAF10	chr9	37800502	37867666	+	ENSG00000122741.15	protein_coding	WDR32	9p13.2	DDB1 and CUL4 associated factor 10	Ubiquitous expression in testis (RPKM 8.3), thyroid (RPKM 6.2) and 25 other tissues
DCAF11	chr14	24114195	24125242	+	ENSG00000100897.17	protein_coding	GL014|PRO2389|WDR23	14q12	DDB1 and CUL4 associated factor 11	This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]
DCAF12	chr9	34086387	34127399	-	ENSG00000198876.12	protein_coding	CT102|KIAA1892|TCC52|WDR40A	9p13.3	DDB1 and CUL4 associated factor 12	This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates. [provided by RefSeq, Jul 2009]
DCAF13	chr8	103414714	103443453	+	ENSG00000164934.13	protein_coding	GM83|HSPC064|Sof1|WDSOF1	8q22.3	DDB1 and CUL4 associated factor 13	Ubiquitous expression in testis (RPKM 16.5), kidney (RPKM 11.1) and 25 other tissues
DCAF13P3	chr15	50944663	50945996	+	ENSG00000259378.1	processed_pseudogene	-	15q21.2	DDB1 and CUL4 associated factor 13 pseudogene 3	-
DCAF16	chr4	17800655	17810758	-	ENSG00000163257.10	protein_coding	C4orf30	4p15.31	DDB1 and CUL4 associated factor 16	Ubiquitous expression in ovary (RPKM 5.2), endometrium (RPKM 5.1) and 25 other tissues
DCAF17	chr2	171434217	171485052	+	ENSG00000115827.13	protein_coding	C20orf37|C2orf37	2q31.1	DDB1 and CUL4 associated factor 17	This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
DCAF4	chr14	72926332	72959703	+	ENSG00000119599.16	protein_coding	WDR21|WDR21A	14q24.2	DDB1 and CUL4 associated factor 4	This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]
DCAF4L1	chr4	41981696	41986467	+	ENSG00000182308.6	protein_coding	WDR21B	4p13	DDB1 and CUL4 associated factor 4 like 1	-
DCAF5	chr14	69050881	69153150	-	ENSG00000139990.17	protein_coding	BCRG2|BCRP2|D14S1461E|WDR22	14q24.1	DDB1 and CUL4 associated factor 5	Predicted to be involved in protein ubiquitination. Part of Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
DCAF6	chr1	167935783	168075843	+	ENSG00000143164.15	protein_coding	1200006M05Rik|ARCAP|IQWD1|MSTP055|NRIP|PC326	1q24.2	DDB1 and CUL4 associated factor 6	The protein encoded by this gene is a ligand-dependent coactivator of nuclear receptors, including nuclear receptor subfamily 3 group C member 1 (NR3C1), glucocorticoid receptor (GR), and androgen receptor (AR). The encoded protein and DNA damage binding protein 2 (DDB2) may act as tumor promoters and tumor suppressors, respectively, by regulating the level of androgen receptor in prostate tissues. In addition, this protein can act with glucocorticoid receptor to promote human papillomavirus gene expression. [provided by RefSeq, Mar 2017]
DCAF7	chr17	63550461	63594266	+	ENSG00000136485.14	protein_coding	AN11|HAN11|SWAN-1|WDR68	17q23.3	DDB1 and CUL4 associated factor 7	This gene encodes a protein with multiple WD40 repeats which facilitate protein-protein interactions and thereby enable the assembly of multiprotein complexes. This protein has been shown to function as a scaffold protein for protein complexes involved in kinase signaling. This highly conserved gene is present in eukaryotic plants, fungi, and animals. The ortholog of this gene was first identified in plants as a key regulator of anthocyanin biosynthesis and flower pigmentation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
DCAF8	chr1	160215715	160262531	-	ENSG00000132716.18	protein_coding	GAN2|H326|WDR42A	1q23.2	DDB1 and CUL4 associated factor 8	This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009]
DCAKD	chr17	45023340	45061109	-	ENSG00000172992.11	protein_coding	-	17q21.31	dephospho-CoA kinase domain containing	-
DCBLD1	chr6	117453817	117569858	+	ENSG00000164465.18	protein_coding	dJ94G16.1	6q22.1	discoidin, CUB and LCCL domain containing 1	Ubiquitous expression in gall bladder (RPKM 5.3), placenta (RPKM 4.6) and 25 other tissues
DCBLD2	chr3	98795941	98901689	-	ENSG00000057019.15	protein_coding	CLCP1|ESDN	3q12.1|3	discoidin, CUB and LCCL domain containing 2	Broad expression in testis (RPKM 18.8), heart (RPKM 11.1) and 22 other tissues
DCC	chr18	52340172	53535903	+	ENSG00000187323.11	protein_coding	CRC18|CRCR1|HGPPS2|IGDCC1|MRMV1|NTN1R1	18q21.2	DCC netrin 1 receptor	This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma. [provided by RefSeq, Oct 2009]
DCDC1	chr11	30830369	31369810	-	ENSG00000170959.14	protein_coding	DCDC5	11p14.1-p13	doublecortin domain containing 1	This gene encodes a member of the doublecortin family. The protein encoded by this gene is a hydrophilic, intracellular protein. It contains a single doublecortin domain and is unable to bind microtubules and to regulate microtubule polymerization. This gene is mainly expressed in adult testis. It does not have a mouse homolog. [provided by RefSeq, Sep 2010]
DCDC2	chr6	24171756	24358052	-	ENSG00000146038.11	protein_coding	DCDC2A|DFNB66|NPHP19|NSC|RU2|RU2S	6p22.3	doublecortin domain containing 2	This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. Mutations in this gene have been associated with reading disability (RD) type 2, also referred to as developmental dyslexia. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2013]
DCDC2B	chr1	32209094	32216196	+	ENSG00000222046.2	protein_coding	-	1p35.2	doublecortin domain containing 2B	Broad expression in testis (RPKM 2.4), lung (RPKM 2.3) and 25 other tissues
DCHS1	chr11	6621323	6655854	-	ENSG00000166341.7	protein_coding	CDH19|CDH25|CDHR6|FIB1|MVP2|PCDH16|VMLDS1	11p15.4	dachsous cadherin-related 1	This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family member is expressed in fibroblasts but not in melanocytes or keratinocytes. The cell-cell adhesion of fibroblasts is thought to be necessary for wound healing. [provided by RefSeq, Jul 2008]
DCHS2	chr4	154232037	154491716	-	ENSG00000197410.12	protein_coding	CDH27|CDHJ|CDHR7|PCDH23|PCDHJ	4q31.3	dachsous cadherin-related 2	This gene encodes a large protein that contains many cadherin domains and likely functions in cell adhesion. Genome-wide association studies suggest that this gene may be important in Alzheimers disease, compressive strength index, and appendicular lean mass. [provided by RefSeq, May 2017]
DCK	chr4	70992538	71030914	+	ENSG00000156136.9	protein_coding	-	4q13.3	deoxycytidine kinase	Broad expression in lymph node (RPKM 50.3), appendix (RPKM 23.2) and 22 other tissues
DCLK2	chr4	150078274	150257457	+	ENSG00000170390.15	protein_coding	CL2|CLICK-II|CLICK2|CLIK2|DCAMKL2|DCDC3|DCDC3B|DCK2	4q31.23-q31.3	doublecortin like kinase 2	This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. Mouse studies show that the DCX gene, another family member, and this gene share function in the establishment of hippocampal organization and that their absence results in a severe epileptic phenotype and lethality, as described in human patients with lissencephaly. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Sep 2010]
DCLK3	chr3	36712422	36764349	-	ENSG00000163673.7	protein_coding	CLR|DCAMKL3|DCDC3C|DCK3	3p22.2	doublecortin like kinase 3	Biased expression in testis (RPKM 2.2), brain (RPKM 0.5) and 6 other tissues
DCLRE1A	chr10	113834725	113854383	-	ENSG00000198924.7	protein_coding	PSO2|SNM1|SNM1A	10q25.3	DNA cross-link repair 1A	This gene encodes a conserved protein that is involved in the repair of DNA interstrand cross-links. DNA cross-links suppress transcription, replication, and DNA segregation. The encoded protein is a regulator of the mitotic cell cycle checkpoint. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
DCLRE1B	chr1	113905141	113914086	+	ENSG00000118655.4	protein_coding	APOLLO|SNM1B|SNMIB	1p13.2	DNA cross-link repair 1B	DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM, Mar 2008]
DCP1A	chr3	53283428	53347610	-	ENSG00000272886.5	protein_coding	HSA275986|Nbla00360|SMAD4IP1|SMIF	3p21.1	decapping mRNA 1A	Decapping is a key step in general and regulated mRNA decay. The protein encoded by this gene is a decapping enzyme. This protein and another decapping enzyme form a decapping complex, which interacts with the nonsense-mediated decay factor hUpf1 and may be recruited to mRNAs containing premature termination codons. This protein also participates in the TGF-beta signaling pathway. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]
DCP1B	chr12	1946054	2004535	-	ENSG00000151065.13	protein_coding	DCP1	12p13.33	decapping mRNA 1B	This gene encodes a member of a family of proteins that function in removing the 5 cap from mRNAs, which is a step in regulated mRNA decay. This protein localizes to cytoplasmic foci which are the site of mRNA breakdown and turnover. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
DCP2	chr5	112976702	113020970	+	ENSG00000172795.15	protein_coding	NUDT20	5q22.2	decapping mRNA 2	The protein encoded by this gene is a key component of an mRNA-decapping complex required for degradation of mRNAs, both in normal mRNA turnover, and in nonsense-mediated mRNA decay (NMD). It removes the 7-methyl guanine cap structure from mRNA, prior to its degradation from the 5 end. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011]
DCPS	chr11	126303752	126345749	+	ENSG00000110063.8	protein_coding	ARS|DCS1|HINT-5|HINT5|HSL1|HSPC015	11q24.2	decapping enzyme, scavenger	This gene encodes a member of the histidine triad family of pyrophosphatases that removes short mRNA fragments containing the 5&#8242; mRNA cap structure, which appear in the 3&#8242; &#8594; 5&#8242; mRNA decay pathway, following deadenylation and exosome-mediated turnover. This enzyme hydrolyzes the triphosphate linkage of the cap structure (7-methylguanosine nucleoside triphosphate) to yield 7-methylguanosine monophosphate and nucleoside diphosphate. It protects the cell from the potentially toxic accumulation of these short, capped mRNA fragments, and regulates the activity of other cap-binding proteins, which are inhibited by their accumulation. It also acts as a transcript-specific modulator of pre-mRNA splicing and microRNA turnover. [provided by RefSeq, Apr 2017]
DCST1	chr1	155033824	155050930	+	ENSG00000163357.10	protein_coding	-	1q21.3	DC-STAMP domain containing 1	Biased expression in testis (RPKM 2.9), skin (RPKM 1.8) and 8 other tissues
DCST1-AS1	chr1	155045191	155046118	-	ENSG00000232093.1	antisense	-	1q21.3	DCST1 antisense RNA 1	-
DCST2	chr1	155018520	155033781	-	ENSG00000163354.14	protein_coding	-	1q21.3	DC-STAMP domain containing 2	-
DCSTAMP	chr8	104339087	104356689	+	ENSG00000164935.6	protein_coding	FIND|TM7SF4|hDC-STAMP	8q22.3	dendrocyte expressed seven transmembrane protein	This gene encodes a seven-pass transmembrane protein that is primarily expressed in dendritic cells. The encoded protein is involved in a range of immunological functions carried out by dendritic cells. This protein plays a role in osteoclastogenesis and myeloid differentiation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
DCT	chr13	94436808	94479682	-	ENSG00000080166.15	protein_coding	OCA8|TRP-2|TYRP2	13q32.1	dopachrome tautomerase	Restricted expression toward skin (RPKM 44.8)
DCTD	chr4	182890060	182917936	-	ENSG00000129187.14	protein_coding	-	4q35.1	dCMP deaminase	Ubiquitous expression in thyroid (RPKM 37.0), adrenal (RPKM 19.8) and 25 other tissues
DCTN1	chr2	74361154	74392087	-	ENSG00000204843.12	protein_coding	DAP-150|DP-150|P135	2p13.1	dynactin subunit 1	This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008]
DCTN1-AS1	chr2	74385486	74393882	+	ENSG00000237737.5	antisense	-	2p13.1	DCTN1 antisense RNA 1	-
DCTN2	chr12	57530102	57547331	-	ENSG00000175203.15	protein_coding	DCTN50|DYNAMITIN|HEL-S-77|RBP50	12q13.3	dynactin subunit 2	This gene encodes a 50-kD subunit of dynactin, a macromolecular complex consisting of 10-11 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit is present in 4-5 copies per dynactin molecule. It contains three short alpha-helical coiled-coil domains that may mediate association with self or other dynactin subunits. It may interact directly with the largest subunit (p150) of dynactin and may affix p150 in place. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2012]
DCTN3	chr9	34613545	34620523	-	ENSG00000137100.15	protein_coding	DCTN-22|DCTN22	9p13.3	dynactin subunit 3	This gene encodes the smallest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, cytokinesis, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like most other dynactin subunits, exists only as a part of the dynactin complex. It is primarily an alpha-helical protein with very little coiled coil, and binds directly to the largest subunit (p150) of dynactin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
DCTN4	chr5	150708440	150759109	-	ENSG00000132912.12	protein_coding	DYN4|P62	5q33.1	dynactin subunit 4	Ubiquitous expression in brain (RPKM 24.6), bone marrow (RPKM 19.3) and 25 other tissues
DCTN6	chr8	30156297	30183640	+	ENSG00000104671.7	protein_coding	WS-3|WS3|p27	8p12	dynactin subunit 6	The protein encoded by this gene contains an RGD (Arg-Gly-Asp) motif in the N-terminal region, which confers adhesive properties to macromolecular proteins like fibronectin. It shares a high degree of sequence similarity with the mouse homolog, which has been suggested to play a role in mitochondrial biogenesis. The exact biological function of this gene is not known. [provided by RefSeq, Jul 2008]
DCTPP1	chr16	30423619	30430075	-	ENSG00000179958.8	protein_coding	CDA03|RS21C6|XTP3TPA	16p11.2	dCTP pyrophosphatase 1	The protein encoded by this gene is dCTP pyrophosphatase, which converts dCTP to dCMP and inorganic pyrophosphate. The encoded protein also displays weak activity against dTTP and dATP, but none against dGTP. This protein may be responsible for eliminating excess dCTP after DNA synthesis and may prevent overmethylation of CpG islands. Three transcript variants, one protein-coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]
DCUN1D2	chr13	113455819	113490952	-	ENSG00000150401.14	protein_coding	C13orf17|DCNL2	13q34	defective in cullin neddylation 1 domain containing 2	Broad expression in heart (RPKM 8.1), testis (RPKM 2.5) and 23 other tissues
DCUN1D2-AS	chr13	113468901	113476135	+	ENSG00000233613.5	antisense	DCUN1D2-AS2	13q34	DCUN1D2 antisense RNA	-
DCUN1D3	chr16	20854925	20900384	-	ENSG00000188215.9	protein_coding	44M2.4|DCNL3|SCCRO3	16p12.3	defective in cullin neddylation 1 domain containing 3	Enables cullin family protein binding activity. Involved in several processes, including negative regulation of G1/S transition of mitotic cell cycle; regulation of protein neddylation; and response to UV-C. Located in nucleus; perinuclear region of cytoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
DCUN1D4	chr4	51843000	51916837	+	ENSG00000109184.14	protein_coding	DCNL4	4q12	defective in cullin neddylation 1 domain containing 4	Ubiquitous expression in testis (RPKM 10.1), adrenal (RPKM 8.7) and 25 other tissues
DCUN1D5	chr11	103062076	103092215	-	ENSG00000137692.11	protein_coding	DCNL5|SCCRO5	11q22.3	defective in cullin neddylation 1 domain containing 5	Ubiquitous expression in brain (RPKM 3.6), fat (RPKM 1.6) and 25 other tissues
DCXR	chr17	82035136	82037732	-	ENSG00000169738.7	protein_coding	DCR|HCR2|HCRII|KIDCR|P34H|PNTSU|SDR20C1|XR	17q25.3	dicarbonyl and L-xylulose reductase	The protein encoded by this gene acts as a homotetramer to catalyze diacetyl reductase and L-xylulose reductase reactions. The encoded protein may play a role in the uronate cycle of glucose metabolism and in the cellular osmoregulation in the proximal renal tubules. Defects in this gene are a cause of pentosuria. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2010]
DDA1	chr19	17309518	17323301	+	ENSG00000130311.10	protein_coding	C19orf58|PCIA1	19p13.11	DET1 and DDB1 associated 1	Ubiquitous expression in placenta (RPKM 7.7), brain (RPKM 6.3) and 25 other tissues
DDAH1	chr1	85318481	85578363	-	ENSG00000153904.18	protein_coding	DDAH|DDAH-1|DDAHI|HEL-S-16	1p22.3	dimethylarginine dimethylaminohydrolase 1	This gene belongs to the dimethylarginine dimethylaminohydrolase (DDAH) gene family. The encoded enzyme plays a role in nitric oxide generation by regulating cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. [provided by RefSeq, Jul 2008]
DDAH2	chr6	31727038	31730617	-	ENSG00000213722.8	protein_coding	DDAH|DDAHII|G6a|HEL-S-277|NG30	6p21.33	dimethylarginine dimethylaminohydrolase 2	This gene encodes a dimethylarginine dimethylaminohydrolase. The encoded enzyme functions in nitric oxide generation by regulating the cellular concentrations of methylarginines, which in turn inhibit nitric oxide synthase activity. The protein may be localized to the mitochondria. Alternative splicing resulting in multiple transcript variants. [provided by RefSeq, Dec 2014]
DDB1	chr11	61299451	61342596	-	ENSG00000167986.13	protein_coding	DDBA|UV-DDB1|WHIKERS|XAP1|XPCE|XPE|XPE-BF	11q12.2	damage specific DNA binding protein 1	The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012]
DDB2	chr11	47214465	47239240	+	ENSG00000134574.11	protein_coding	DDBB|UV-DDB2|XPE	11p11.2	damage specific DNA binding protein 2	This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
DDC	chr7	50458436	50565457	-	ENSG00000132437.17	protein_coding	AADC	7p12.2-p12.1	dopa decarboxylase	The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011]
DDC-AS1	chr7	50531759	50543463	+	ENSG00000226122.1	antisense	-	7p12.1	DDC antisense RNA 1	-
DDHD1	chr14	53036745	53153282	-	ENSG00000100523.14	protein_coding	PA-PLA1|PAPLA1|SPG28|iPLA1alpha	14q22.1	DDHD domain containing 1	This gene is a member of the intracellular phospholipase A1 gene family. The protein encoded by this gene preferentially hydrolyzes phosphatidic acid. It is a cytosolic protein with some mitochondrial localization, and is thought to be involved in the regulation of mitochondrial dynamics. Overexpression of this gene causes fragmentation of the tubular structures in mitochondria, while depletion of the gene results in mitochondrial tubule elongation. Deletion of this gene in male mice caused fertility defects, resulting from disruption in the organization of the mitochondria during spermiogenesis. In humans, mutations in this gene have been associated with hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain disease, or, familial spastic paraparesis (FSP). This inherited disorder is characterized by progressive weakness and spasticity of the legs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
DDHD2	chr8	38225218	38275558	+	ENSG00000085788.13	protein_coding	SAMWD1|SPG54|iPLA(1)gamma|iPLA1gamma	8p11.23	DDHD domain containing 2	This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
DDI2	chr1	15617500	15669044	+	ENSG00000197312.11	protein_coding	-	1p36.21	DNA damage inducible 1 homolog 2	-
DDIAS	chr11	82899975	82958277	+	ENSG00000165490.12	protein_coding	C11orf82|noxin	11q14.1	DNA damage induced apoptosis suppressor	Broad expression in testis (RPKM 5.9), lymph node (RPKM 1.9) and 14 other tissues
DDIT3	chr12	57516588	57520517	-	ENSG00000175197.11	protein_coding	AltDDIT3|C/EBPzeta|CEBPZ|CHOP|CHOP-10|CHOP10|GADD153	12q13.3	DNA damage inducible transcript 3	This gene encodes a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. The protein functions as a dominant-negative inhibitor by forming heterodimers with other C/EBP members, such as C/EBP and LAP (liver activator protein), and preventing their DNA binding activity. The protein is implicated in adipogenesis and erythropoiesis, is activated by endoplasmic reticulum stress, and promotes apoptosis. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in myxoid liposarcomas or Ewing sarcoma. Multiple alternatively spliced transcript variants encoding two isoforms with different length have been identified. [provided by RefSeq, Aug 2010]
DDIT4	chr10	72273920	72276036	+	ENSG00000168209.4	protein_coding	Dig2|REDD-1|REDD1	10q22.1	DNA damage inducible transcript 4	Ubiquitous expression in ovary (RPKM 89.7), fat (RPKM 84.2) and 25 other tissues
DDIT4L	chr4	100185870	100190782	-	ENSG00000145358.6	protein_coding	REDD2|Rtp801L	4q24	DNA damage inducible transcript 4 like	Biased expression in prostate (RPKM 12.6), kidney (RPKM 5.8) and 10 other tissues
DDN	chr12	48995149	48999309	-	ENSG00000181418.7	protein_coding	-	12q13.12	dendrin	-
DDO	chr6	110391771	110415562	-	ENSG00000203797.9	protein_coding	DASOX|DDO-1|DDO-2	6q21	D-aspartate oxidase	The protein encoded by this gene is a peroxisomal flavoprotein that catalyzes the oxidative deamination of D-aspartate and N-methyl D-aspartate. Flavin adenine dinucleotide or 6-hydroxyflavin adenine dinucleotide can serve as the cofactor in this reaction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2019]
DDOST	chr1	20651767	20661544	-	ENSG00000244038.9	protein_coding	AGER1|CDG1R|GATD6|OKSWcl45|OST|OST48|WBP1	1p36.12	dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit	This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-purifies with ribosomes. The product of this gene is also implicated in the processing of advanced glycation endproducts (AGEs), which form from non-enzymatic reactions between sugars and proteins or lipids and are associated with aging and hyperglycemia. [provided by RefSeq, Jul 2008]
DDR1	chr6	30876421	30900156	+	ENSG00000204580.13	protein_coding	CAK|CD167|DDR|EDDR1|HGK2|MCK10|NEP|NTRK4|PTK3|PTK3A|RTK6|TRKE	6p21.33	discoidin domain receptor tyrosine kinase 1	Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene belongs to a subfamily of tyrosine kinase receptors with homology to Dictyostelium discoideum protein discoidin I in their extracellular domain, and that are activated by various types of collagen. Expression of this protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, it has been shown to be significantly overexpressed in several human tumors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
DDR1-DT	chr6	-	-	-	-	ncRNA	DDR1-AS1|TIGD1L|bCX111D4.7|bPG70P20.2|bQB10J12.1	6p21.3	DDR1 divergent transcript	-
DDRGK1	chr20	3190350	3204685	-	ENSG00000198171.12	protein_coding	C20orf116|SEMDSH|UFBP1|dJ1187M17.3	20p13	DDRGK domain containing 1	The protein encoded by this gene interacts with components of the ubiquitin fold modifier 1 conjugation pathway and helps prevent apoptosis in ER-stressed secretory tissues. In addition, the encoded protein regulates nuclear factor-&#954;B activity. [provided by RefSeq, Dec 2015]
DDT	chr22	23971365	23980469	-	ENSG00000099977.13	protein_coding	D-DT|DDCT|MIF-2|MIF2	22q11.23	D-dopachrome tautomerase	D-dopachrome tautomerase converts D-dopachrome into 5,6-dihydroxyindole. The DDT gene is related to the migration inhibitory factor (MIF) in terms of sequence, enzyme activity, and gene structure. DDT and MIF are closely linked on chromosome 22. [provided by RefSeq, Jul 2008]
DDTL	chr22	23966901	23972532	+	ENSG00000099974.7	protein_coding	DDT|KB-226F1.2	22q11.23	D-dopachrome tautomerase like	Ubiquitous expression in liver (RPKM 19.3), kidney (RPKM 12.1) and 25 other tissues
DDX1	chr2	15591178	15631111	+	ENSG00000079785.14	protein_coding	DBP-RB|UKVH5d	2p24.3	DEAD-box helicase 1	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein that acts as an ATP-dependent RNA helicase that has been found to promote coronaviruses replication. [provided by RefSeq, Aug 2021]
DDX10	chr11	108665025	108940930	+	ENSG00000178105.9	protein_coding	Dbp4|HRH-J8	11q22.3	DEAD-box helicase 10	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it may be involved in ribosome assembly. Fusion of this gene and the nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found in the patients with de novo or therapy-related myeloid malignancies. [provided by RefSeq, Jul 2008]
DDX10P1	chr10	30919012	30921235	-	ENSG00000237135.1	processed_pseudogene	-	10p11.23	DEAD-box helicase 10 pseudogene 1	-
DDX10P2	chr9	82086155	82088768	-	ENSG00000230360.1	processed_pseudogene	-	9q21.32	DEAD-box helicase 10 pseudogene 2	-
DDX11L10	chr16	11555	14090	+	ENSG00000233614.6	transcribed_unprocessed_pseudogene	DDX11L1|DDX11P	16p13.3	DEAD/H-box helicase 11 like 10 (pseudogene)	Broad expression in testis (RPKM 3.4), bone marrow (RPKM 1.1) and 15 other tissues
DDX11L2	chr2	113599036	113601261	-	ENSG00000236397.3	unprocessed_pseudogene	-	2q14.1	DEAD/H-box helicase 11 like 2 (pseudogene)	-
DDX12P	chr12	9418673	9448229	-	ENSG00000214826.5	unprocessed_pseudogene	CHLR2|DDX12	12p13.31	DEAD/H-box helicase 12, pseudogene	Predicted to enable DNA helicase activity. Predicted to be involved in DNA duplex unwinding and establishment of sister chromatid cohesion. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
DDX17	chr22	38483440	38507660	-	ENSG00000100201.20	protein_coding	P72|RH70	22q13.1	DEAD-box helicase 17	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and splicesosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an ATPase activated by a variety of RNA species, but not by dsDNA. This protein, and that encoded by DDX5 gene, are more closely related to each other than to any other member of the DEAD box family. This gene can encode multiple isoforms due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) start codon. [provided by RefSeq, Apr 2011]
DDX18	chr2	117814650	117832379	+	ENSG00000088205.12	protein_coding	Has1|MrDb	2q14.1	DEAD-box helicase 18	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it is activated by Myc protein. [provided by RefSeq, Jul 2008]
DDX18P1	chr14	69083398	69085389	+	ENSG00000259165.1	processed_pseudogene	-	14q24.1	DEAD-box helicase 18 pseudogene 1	-
DDX19A	chr16	70346829	70373383	+	ENSG00000168872.16	protein_coding	DDX19-DDX19L|DDX19L	16q22.1	DEAD-box helicase 19A	Ubiquitous expression in thyroid (RPKM 14.8), placenta (RPKM 14.0) and 25 other tissues
DDX19B	chr16	70289663	70335283	+	ENSG00000157349.16	protein_coding	DBP5|DDX19|RNAh	16q22.1	DEAD-box helicase 19B	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which exhibits RNA-dependent ATPase and ATP-dependent RNA-unwinding activities. This protein is recruited to the cytoplasmic fibrils of the nuclear pore complex, where it participates in the export of mRNA from the nucleus. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
DDX20	chr1	111755245	111768016	+	ENSG00000064703.11	protein_coding	DP103|GEMIN3	1p13.2	DEAD-box helicase 20	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq, Jul 2008]
DDX21	chr10	68956128	68985073	+	ENSG00000165732.12	protein_coding	GUA|GURDB|RH-II/GU|RH-II/GuA	10q22.1	DExD-box helicase 21	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an antigen recognized by autoimmune antibodies from a patient with watermelon stomach disease. This protein unwinds double-stranded RNA, folds single-stranded RNA, and may play important roles in ribosomal RNA biogenesis, RNA editing, RNA transport, and general transcription. [provided by RefSeq, Jul 2008]
DDX23	chr12	48829764	48852842	-	ENSG00000174243.9	protein_coding	PRPF28|SNRNP100|U5-100K|U5-100KD|prp28	12q13.12	DEAD-box helicase 23	This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing. An alternatively spliced transcript variant has been found for this gene, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
DDX24	chr14	94048291	94081245	-	ENSG00000089737.16	protein_coding	-	14q32.12	DEAD-box helicase 24	Ubiquitous expression in testis (RPKM 90.5), adrenal (RPKM 75.8) and 25 other tissues
DDX25	chr11	125903348	125943702	+	ENSG00000109832.13	protein_coding	GRTH	11q24.2	DEAD-box helicase 25	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The encoded protein is a gonadotropin-regulated and developmentally expressed testicular RNA helicase. It may serve to maintain testicular functions related to steroidogenesis and spermatogenesis. [provided by RefSeq, Jul 2008]
DDX27	chr20	49219295	49244077	+	ENSG00000124228.14	protein_coding	DRS1|Drs1p|HSPC259|PP3241|RHLP|dJ686N3.1	20q13.13	DEAD-box helicase 27	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein involved in the processing of 5.8S and 28S ribosomal RNAs. More specifically, the encoded protein localizes to the nucleolus, where it interacts with the PeBoW complex to ensure proper 3 end formation of 47S rRNA. [provided by RefSeq, Jan 2017]
DDX28	chr16	68021274	68023442	-	ENSG00000182810.6	protein_coding	MDDX28	16q22.1	DEAD-box helicase 28	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is intronless. It encodes an RNA-dependent ATPase. The encoded protein is localized in the mitochondria and the nucleus, and can be transported between the mitochondria and the nucleus. [provided by RefSeq, Jul 2008]
DDX31	chr9	132592997	132670401	-	ENSG00000125485.17	protein_coding	PPP1R25	9q34.13	DEAD-box helicase 31	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2016]
DDX39B	chr6	31530219	31542448	-	ENSG00000198563.13	protein_coding	BAT1|D6S81E|UAP56	6p21.33	DExD-box helicase 39B	This gene encodes a member of the DEAD box family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for association of U2 small nuclear ribonucleoprotein with pre-mRNA, and it also plays an important role in mRNA export from the nucleus to the cytoplasm. This gene belongs to a cluster of genes localized in the vicinity of the genes encoding tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. Mutations in this gene may be associated with rheumatoid arthritis. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on both chromosomes 6 and 11. Read-through transcription also occurs between this gene and the upstream ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) gene. [provided by RefSeq, Feb 2011]
DDX39B-AS1	chr6	31542304	31543138	+	ENSG00000234006.1	antisense	-	6p21.33	DDX39B antisense RNA 1	-
DDX39BP2	chr6	29993209	29993605	+	ENSG00000238024.1	unprocessed_pseudogene	BAT1P2|BPG309N1.15	6p22.1	DEAD-box helicase 39B pseudogene 2	-
DDX4	chr5	55738017	55817157	+	ENSG00000152670.18	protein_coding	VASA	5q11.2	DEAD-box helicase 4	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a homolog of VASA proteins in Drosophila and several other species. The gene is specifically expressed in the germ cell lineage in both sexes and functions in germ cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
DDX41	chr5	177511577	177517469	-	ENSG00000183258.11	protein_coding	ABS|MPLPF	5q35.3	DEAD-box helicase 41	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD box protein family and interacts with several spliceosomal proteins. In addition, the encoded protein may recognize the bacterial second messengers cyclic di-GMP and cyclic di-AMP, resulting in the induction of genes involved in the innate immune response. [provided by RefSeq, Jan 2017]
DDX42	chr17	63773603	63819317	+	ENSG00000198231.12	protein_coding	DDX42P|RHELP|RNAHP|SF3B8|SF3b125	17q23.3	DEAD-box helicase 42	This gene encodes a member of the Asp-Glu-Ala-Asp (DEAD) box protein family. Members of this protein family are putative RNA helicases, and are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
DDX43	chr6	73394748	73417569	+	ENSG00000080007.7	protein_coding	CT13|HAGE	6q13	DEAD-box helicase 43	 The protein encoded by this gene is an ATP-dependent RNA helicase in the DEAD-box family and displays tumor-specific expression. [provided by RefSeq, Jul 2008]
DDX49	chr19	18919675	18928633	+	ENSG00000105671.11	protein_coding	Dbp8|R27090_2	19p13.11	DEAD-box helicase 49	Ubiquitous expression in testis (RPKM 13.3), bone marrow (RPKM 12.8) and 25 other tissues
DDX5	chr17	64499616	64508199	-	ENSG00000108654.13	protein_coding	G17P1|HLR1|HUMP68|p68	17q23.3	DEAD-box helicase 5	This gene encodes a member of the DEAD box family of RNA helicases that are involved in a variety of cellular processes as a result of its role as an adaptor molecule, promoting interactions with a large number of other factors. This protein is involved in pathways that include the alteration of RNA structures, plays a role as a coregulator of transcription, a regulator of splicing, and in the processing of small noncoding RNAs. Members of this family contain nine conserved motifs, including the conserved Asp-Glu-Ala-Asp (DEAD) motif, important to ATP binding and hydrolysis as well as RNA binding and unwinding activities. Dysregulation of this gene may play a role in cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2017]
DDX50	chr10	68901278	68946847	+	ENSG00000107625.12	protein_coding	GU2|GUB|RH-II/GuB|mcdrh	10q22.1	DExD-box helicase 50	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined. [provided by RefSeq, Jul 2008]
DDX50P1	chr2	32201600	32203999	+	ENSG00000229816.1	processed_pseudogene	RH-II/GuBp1	2p22.3	DEAD-box helicase 50 pseudogene 1	-
DDX50P2	chr3	154352136	154354799	-	ENSG00000240048.1	processed_pseudogene	RH_II/GuBp2	3q25.2	DEAD-box helicase 50 pseudogene 2	-
DDX51	chr12	132136594	132144335	-	ENSG00000185163.9	protein_coding	-	12q24.33	DEAD-box helicase 51	-
DDX52	chr17	37609739	37643464	-	ENSG00000278053.4	protein_coding	HUSSY19|ROK1	17q12	DExD-box helicase 52	Ubiquitous expression in testis (RPKM 4.2), endometrium (RPKM 4.1) and 25 other tissues
DDX54	chr12	113157174	113185479	-	ENSG00000123064.12	protein_coding	DP97	12q24.13	DEAD-box helicase 54	This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The nucleolar protein encoded by this gene interacts in a hormone-dependent manner with nuclear receptors, and represses their transcriptional activity. Alternative splice variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
DDX55	chr12	123602077	123620941	+	ENSG00000111364.15	protein_coding	-	12q24.31	DEAD-box helicase 55	Ubiquitous expression in lymph node (RPKM 4.3), bone marrow (RPKM 4.0) and 25 other tissues
DDX56	chr7	44565417	44575051	-	ENSG00000136271.10	protein_coding	DDX21|DDX26|NOH61	7p13	DEAD-box helicase 56	This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene shows ATPase activity in the presence of polynucleotides and associates with nucleoplasmic 65S preribosomal particles. This gene may be involved in ribosome synthesis, most likely during assembly of the large 60S ribosomal subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
DDX58	chr9	32455705	32526324	-	ENSG00000107201.9	protein_coding	RIG-I|RIG1|RIGI|RLR-1|SGMRT2	9p21.1	DExD/H-box helicase 58	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular processes involving RNA binding and alteration of RNA secondary structure. This gene encodes a protein containing RNA helicase-DEAD box protein motifs and a caspase recruitment domain (CARD). It is involved in viral double-stranded (ds) RNA recognition and the regulation of the antiviral innate immune response. Mutations in this gene are associated with Singleton-Merten syndrome 2. [provided by RefSeq, Aug 2020]
DDX59	chr1	200623896	200669969	-	ENSG00000118197.13	protein_coding	OFD5|ZNHIT5	1q32.1	DEAD-box helicase 59	Ubiquitous expression in bone marrow (RPKM 2.6), thyroid (RPKM 2.3) and 25 other tissues
DDX6	chr11	118747766	118791149	-	ENSG00000110367.11	protein_coding	HLR2|IDDILF|P54|RCK|Rck/p54	11q23.3	DEAD-box helicase 6	This gene encodes a member of the DEAD box protein family. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2012]
DDX60L	chr4	168356735	168537786	-	ENSG00000181381.13	protein_coding	-	4q32.3	DExD/H-box 60 like	Ubiquitous expression in appendix (RPKM 7.8), bone marrow (RPKM 6.5) and 24 other tissues
DEAF1	chr11	644233	706715	-	ENSG00000177030.16	protein_coding	MRD24|NEDHELS|NUDR|SPN|VSVS|ZMYND5	11p15.5	DEAF1 transcription factor	This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
DECR1	chr8	90001405	90052092	+	ENSG00000104325.6	protein_coding	DECR|NADPH|SDR18C1	8q21.3	2,4-dienoyl-CoA reductase 1	This gene encodes an accessory enzyme which participates in the beta-oxidation and metabolism of unsaturated fatty enoyl-CoA esters. [provided by RefSeq, Jul 2008]
DECR2	chr16	401826	412487	+	ENSG00000242612.6	protein_coding	PDCR|SDR17C1	16p13.3	2,4-dienoyl-CoA reductase 2	Broad expression in kidney (RPKM 18.7), liver (RPKM 15.2) and 25 other tissues
DEDD	chr1	161120974	161132688	-	ENSG00000158796.16	protein_coding	CASP8IP1|DEDD1|DEFT|FLDED1|KE05	1q23.3	death effector domain containing	This gene encodes a protein that contains a death effector domain (DED). DED is a protein-protein interaction domain shared by adaptors, regulators and executors of the programmed cell death pathway. Overexpression of this gene was shown to induce weak apoptosis. Upon stimulation, this protein was found to translocate from cytoplasm to nucleus and colocalize with UBTF, a basal factor required for RNA polymerase I transcription, in the nucleolus. At least three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
DEDD2	chr19	42198598	42220140	-	ENSG00000160570.13	protein_coding	FLAME-3|FLAME3	19q13.2	death effector domain containing 2	This gene encodes a nuclear-localized protein containing a death effector domain (DED). The encoded protein may regulate the trafficking of caspases and other proteins into the nucleus during death receptor-induced apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
DEF6	chr6	35297852	35321771	+	ENSG00000023892.10	protein_coding	IBP|SLAT|SWAP70L	6p21.31	DEF6 guanine nucleotide exchange factor	DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM, Mar 2008]
DEF8	chr16	89947925	89968060	+	ENSG00000140995.16	protein_coding	-	16q24.3	differentially expressed in FDCP 8 homolog	-
DEFA3	chr8	7015869	7018301	-	ENSG00000239839.6	protein_coding	DEF3|HNP-3|HNP3|HP-3|HP3	8p23.1	defensin alpha 3	Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 3, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 1 by only one amino acid. This gene and the gene encoding defensin, alpha 1 are both subject to copy number variation. [provided by RefSeq, Oct 2014]
DEFA4	chr8	6935822	6938338	-	ENSG00000164821.4	protein_coding	DEF4|HNP-4|HP-4|HP4	8p23.1	defensin alpha 4	Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq, Oct 2014]
DEFA8P	chr8	6950726	6951599	-	ENSG00000223629.1	unprocessed_pseudogene	DEFAP1	8p23.1	defensin alpha 8, pseudogene	Restricted expression toward bone marrow (RPKM 25.0)
DEFB1	chr8	6870575	6878022	-	ENSG00000164825.3	protein_coding	BD1|DEFB-1|DEFB101|HBD1	8p23.1	defensin beta 1	Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family member, defensin, alpha 1 and has been implicated in the pathogenesis of cystic fibrosis. [provided by RefSeq, Jul 2008]
DEFB109A	chr8	 12393284	12400365	-	-	pseudogene	DEFB-9|DEFB109|DEFB109P1	8p23.1	defensin beta 109A (pseudogene)	Biased expression in testis (RPKM 1.1), ovary (RPKM 0.5) and 13 other tissues
DEFB109D	chr8	 12150963	12158034	-	-	pseudogene	DEFB109P3	8p23.1	defensin beta 109D (pseudogene)	-
DEFB118	chr20	31368618	31373923	+	ENSG00000131068.3	protein_coding	C20orf63|DEFB-18|ESC42|ESP13.6	20q11.21	defensin beta 118	This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. Expression of this gene is regulated by androgen, and the encoded protein binds to sperm and exhibits antibacterial activity against E. coli. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. [provided by RefSeq, Nov 2014]
DEFB121	chr20	31404845	31412838	-	ENSG00000204548.3	protein_coding	DEFB21|ESC42RELC	20q11.21	defensin beta 121	This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
DEFB122	chr20	31421436	31429180	-	ENSG00000204547.7	transcribed_unprocessed_pseudogene	DEFB-22|DEFB122P|DEFB22	20q11.21	defensin beta 122 (pseudogene)	Low expression observed in reference dataset
DEFB123	chr20	31440519	31450257	+	ENSG00000180424.6	protein_coding	DEFB-23|DEFB23|ESC42-RELD	20q11.21	defensin beta 123	Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. Two transcript variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2014]
DEFB124	chr20	31465506	31476757	-	ENSG00000180383.3	protein_coding	DEFB-24	20q11.21	defensin beta 124	Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. The encoded protein may serve to enhance innate immunity in the prostate. [provided by RefSeq, Nov 2014]
DEFB132	chr20	257736	261096	+	ENSG00000186458.4	protein_coding	BD-32|DEFB-32|DEFB32|HEL-75|KFLL827|UNQ827	20p13	defensin beta 132	Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The protein encoded by this gene is secreted and is a member of the beta defensin protein family. This protein binds spermatozoa and has antimicrobial activity against E. coli. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. [provided by RefSeq, Nov 2014]
DEFB134	chr8	11993174	11996312	-	ENSG00000205882.8	protein_coding	-	8p23.1	defensin beta 134	Low expression observed in reference dataset
DEFB135	chr8	11982321	11984590	+	ENSG00000205883.2	protein_coding	DEFB136	8p23.1	defensin beta 135	Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014]
DEFB4A	chr8	7894629	7896711	+	ENSG00000171711.2	protein_coding	BD-2|DEFB-2|DEFB102|DEFB2|DEFB4|HBD-2|SAP1	8p23.1	defensin beta 4A	Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq, Jul 2008]
DEFT1P	chr8	6987178	6989721	-	ENSG00000215378.3	unprocessed_pseudogene	DEFQ1|DEFT1	8p23.1	defensin theta 1, pseudogene	Restricted expression toward bone marrow (RPKM 1.1)
DEGS1	chr1	224175756	224193441	+	ENSG00000143753.12	protein_coding	DEGS|DEGS-1|DES1|Des-1|FADS7|HLD18|MIG15|MLD	1q42.11	delta 4-desaturase, sphingolipid 1	This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010]
DEGS2	chr14	100143957	100160163	-	ENSG00000168350.7	protein_coding	C14orf66|DES2|FADS8	14q32.2	delta 4-desaturase, sphingolipid 2	This gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase. [provided by RefSeq, Oct 2008]
DEK	chr6	18223868	18264823	-	ENSG00000124795.14	protein_coding	D6S231E	6p22.3	DEK proto-oncogene	This gene encodes a protein with one SAP domain. This protein binds to cruciform and superhelical DNA and induces positive supercoils into closed circular DNA, and is also involved in splice site selection during mRNA processing. Chromosomal aberrations involving this region, increased expression of this gene, and the presence of antibodies against this protein are all associated with various diseases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
DELE1	chr5	 141923871	141942047	+	ENSG00000081791	protein-coding	DELE|DELE1(L)|KIAA0141	5q31.3	DAP3 binding cell death enhancer 1	Ubiquitous expression in heart (RPKM 16.6), spleen (RPKM 16.6) and 25 other tissues
DENND10	chr10	 119104113	119137984	+	ENSG00000119979	protein-coding	FAM45A	10q26.11	DENN domain containing 10	Ubiquitous expression in thyroid (RPKM 10.5), esophagus (RPKM 8.9) and 25 other tissues
DENND11	chr7	 141656728	141702166	-	ENSG00000257093	protein-coding	KIAA1147|LCHN|PRO2561	7q34	DENN domain containing 11	Ubiquitous expression in brain (RPKM 17.1), thyroid (RPKM 13.3) and 25 other tissues
DENND1A	chr9	123379654	123930152	-	ENSG00000119522.16	protein_coding	FAM31A|KIAA1608	9q33.3	DENN domain containing 1A	Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]
DENND1B	chr1	197504748	197775696	-	ENSG00000213047.12	protein_coding	C1ORF18|C1orf218|FAM31B	1q31.3	DENN domain containing 1B	Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]
DENND1C	chr19	6467207	6482557	-	ENSG00000205744.9	protein_coding	FAM31C	19p13.3	DENN domain containing 1C	The protein encoded by this gene functions as a guanine nucleotide exchange factor for the early endosomal small GTPase RAB35, which regulates endosomal membrane trafficking and is involved in actin polymerization. The encoded protein activates RAB35 by promoting the exchange of RAB35-bound GDP for GTP. This gene may play a role in linking RAB35 activation with the clathrin machinery. [provided by RefSeq, May 2017]
DENND2A	chr7	140518420	140673993	-	ENSG00000146966.12	protein_coding	FAM31D|KIAA1277	7q34	DENN domain containing 2A	Broad expression in endometrium (RPKM 6.4), ovary (RPKM 5.7) and 22 other tissues
DENND2B	chr11	 8693352	8910951	-	ENSG00000166444	protein-coding	HTS1|ST5|p126	11p15.4	DENN domain containing 2B	This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded by this gene contains a C-terminal region that shares similarity with the Rab 3 family of small GTP binding proteins. This protein preferentially binds to the SH3 domain of c-Abl kinase, and acts as a regulator of MAPK1/ERK2 kinase, which may contribute to its ability to reduce the tumorigenic phenotype in cells. Three alternatively spliced transcript variants of this gene encoding distinct isoforms are identified. [provided by RefSeq, Jul 2008]
DENND2C	chr1	114582848	114670422	-	ENSG00000175984.14	protein_coding	dJ1156J9.1	1p13.2	DENN domain containing 2C	Biased expression in esophagus (RPKM 11.0), skin (RPKM 6.6) and 10 other tissues
DENND2D	chr1	111187174	111204535	-	ENSG00000162777.16	protein_coding	-	1p13.3-p13.2	DENN domain containing 2D	-
DENND3	chr8	141117278	141195808	+	ENSG00000105339.10	protein_coding	-	8q24.3	DENN domain containing 3	-
DENND4A	chr15	65658046	65792293	-	ENSG00000174485.15	protein_coding	IRLB|MYCPBP	15q22.31	DENN domain containing 4A	This gene encodes a DENN domain-containing protein that may function as a guanine nucleotide exchange factor that specifically activates ras-related protein Rab-10. This protein also contains a interferon stimulated response element-binding domain and may be involved in regulating the v-myc avian myelocytomatosis viral (MYC) oncogene. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Mar 2016]
DENND4B	chr1	153929501	153946696	-	ENSG00000198837.9	protein_coding	KIAA0476	1q21.3	DENN domain containing 4B	Ubiquitous expression in spleen (RPKM 20.1), lymph node (RPKM 17.2) and 25 other tissues
DENND4C	chr9	19230435	19373545	+	ENSG00000137145.20	protein_coding	C9orf55|C9orf55B|RAB10GEF|bA513M16.3	9p22.1	DENN domain containing 4C	Ubiquitous expression in duodenum (RPKM 11.5), skin (RPKM 11.0) and 25 other tissues
DENND5A	chr11	9138825	9265390	-	ENSG00000184014.7	protein_coding	DEE49|EIEE49|RAB6IP1	11p15.4	DENN domain containing 5A	This gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts inactive GDP-bound Rab proteins into their active GTP-bound form. The encoded protein is recruited by RAB6 onto Golgi membranes and is therefore referred to as RAB6-interacting protein 1. This protein binds with RAB39 as well. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene are associated with early infantile epileptic encephalopathy-49. [provided by RefSeq, Feb 2017]
DENND5B	chr12	31382223	31591097	-	ENSG00000170456.15	protein_coding	-	12p11.21	DENN domain containing 5B	Broad expression in ovary (RPKM 8.9), testis (RPKM 6.8) and 21 other tissues
DENND5B-AS1	chr12	31589923	31615666	+	ENSG00000255867.1	antisense	-	12p11.21	DENND5B antisense RNA 1	-
DENND6A	chr3	57625457	57693089	-	ENSG00000174839.12	protein_coding	AFI1A|FAM116A	3p14.3	DENN domain containing 6A	Ubiquitous expression in ovary (RPKM 8.9), thyroid (RPKM 8.0) and 25 other tissues
DENND6A-AS1	chr3	57628810	57654918	+	ENSG00000239801.1	antisense	-	3p14.3	DENND6A antisense RNA 1	-
DENND6B	chr22	50309030	50327060	-	ENSG00000205593.11	protein_coding	AFI1B|FAM116B	22q13.33	DENN domain containing 6B	Broad expression in brain (RPKM 4.5), testis (RPKM 3.3) and 24 other tissues
DENR	chr12	122752774	122771064	+	ENSG00000139726.10	protein_coding	DRP|DRP1|SMAP-3	12q24.31	density regulated re-initiation and release factor	This gene encodes a protein whose expression was found to increase in cultured cells at high density but not during growth arrest. This gene was also shown to have increased expression in cells overexpressing HER-2/neu proto-oncogene. The protein contains an SUI1 domain. In budding yeast, SUI1 is a translation initiation factor that along with eIF-2 and the initiator tRNA-Met, directs the ribosome to the proper translation start site. Proteins similar to SUI have been found in mammals, insects, and plants. [provided by RefSeq, Jul 2008]
DEPDC1	chr1	68474152	68497221	-	ENSG00000024526.16	protein_coding	DEP.8|DEPDC1-V2|DEPDC1A|SDP35	1p31.3	DEP domain containing 1	Biased expression in testis (RPKM 5.4), lymph node (RPKM 3.0) and 13 other tissues
DEPDC1B	chr5	60596912	60700190	-	ENSG00000035499.12	protein_coding	BRCC3|XTP1	5q12.1	DEP domain containing 1B	Broad expression in gall bladder (RPKM 6.2), testis (RPKM 3.3) and 14 other tissues
DEPDC5	chr22	31753951	31907034	+	ENSG00000100150.16	protein_coding	DEP.5|FFEVF|FFEVF1	22q12.2-q12.3	DEP domain containing 5, GATOR1 subcomplex subunit	This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
DEPDC7	chr11	33015864	33033582	+	ENSG00000121690.10	protein_coding	TR2|dJ85M6.4	11p13	DEP domain containing 7	Biased expression in liver (RPKM 15.2), testis (RPKM 15.0) and 9 other tissues
DEPP1	chr10	 44976128	44978809	-	ENSG00000165507	protein-coding	C10orf10|DEPP|FIG|Fseg	10q11.21	DEPP1 autophagy regulator	The expression of this gene is induced by fasting as well as by progesterone. The protein encoded by this gene contains a t-synaptosome-associated protein receptor (SNARE) coiled-coil homology domain and a peroxisomal targeting signal. Production of the encoded protein leads to phosphorylation and activation of the transcription factor ELK1. [provided by RefSeq, Jul 2008]
DEPTOR	chr8	119873717	120050913	+	ENSG00000155792.9	protein_coding	DEP.6|DEPDC6	8q24.12	DEP domain containing MTOR interacting protein	Broad expression in thyroid (RPKM 29.3), adrenal (RPKM 13.7) and 17 other tissues
DERA	chr12	15911172	16037282	+	ENSG00000023697.12	protein_coding	CGI-26|DEOC	12p12.3	deoxyribose-phosphate aldolase	Ubiquitous expression in small intestine (RPKM 26.2), kidney (RPKM 24.6) and 25 other tissues
DERL1	chr8	123013164	123042423	-	ENSG00000136986.9	protein_coding	DER-1|DER1|derlin-1	8q24.13	derlin 1	The protein encoded by this gene is a member of the derlin family. Members of this family participate in the ER-associated degradation response and retrotranslocate misfolded or unfolded proteins from the ER lumen to the cytosol for proteasomal degradation. This protein recognizes substrate in the ER and works in a complex to retrotranslocate it across the ER membrane into the cytosol. This protein may select cystic fibrosis transmembrane conductance regulator protein (CFTR) for degradation as well as unfolded proteins in Alzheimers disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
DERL2	chr17	5471251	5486811	-	ENSG00000072849.10	protein_coding	CGI-101|DERtrin-2|F-LAN-1|F-LANa|FLANa|derlin-2	17p13.2	derlin 2	Proteins that are unfolded or misfolded in the endoplasmic reticulum (ER) must be refolded or degraded to maintain the homeostasis of the ER. DERL2 is involved in the degradation of misfolded glycoproteins in the ER (Oda et al., 2006 [PubMed 16449189]).[supplied by OMIM, Mar 2008]
DERL3	chr22	23834503	23839128	-	ENSG00000099958.14	protein_coding	C22orf14|IZP6|LLN2|derlin-3	22q11.23	derlin 3	The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain the homeostasis of the ER. This protein appears to be involved in the degradation of misfolded glycoproteins in the ER. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]
DES	chr2	219418377	219426739	+	ENSG00000175084.11	protein_coding	CDCD3|CSM1|CSM2|LGMD1D|LGMD1E|LGMD2R	2q35	desmin	This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]
DESI1	chr22	41598028	41621096	-	ENSG00000100418.7	protein_coding	D15Wsu75e|DESI2|DJ347H13.4|DeSI-1|FAM152B|POST|PPPDE2	22q13.2	desumoylating isopeptidase 1	Ubiquitous expression in testis (RPKM 7.4), esophagus (RPKM 4.9) and 25 other tissues
DET1	chr15	88494440	88546675	-	ENSG00000140543.14	protein_coding	-	15q26.1	DET1 partner of COP1 E3 ubiquitin ligase	-
DEUP1	chr11	93329971	93438487	+	ENSG00000165325.13	protein_coding	CCDC67	11q21	deuterosome assembly protein 1	Restricted expression toward testis (RPKM 5.7)
DEXI	chr16	10928891	10942460	-	ENSG00000182108.9	protein_coding	MYLE	16p13.13	Dexi homolog	Ubiquitous expression in adrenal (RPKM 14.1), heart (RPKM 12.8) and 25 other tissues
DFFA	chr1	10456522	10472526	-	ENSG00000160049.11	protein_coding	DFF-45|DFF1|ICAD	1p36.22	DNA fragmentation factor subunit alpha	Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
DFFB	chr1	3857267	3885429	+	ENSG00000169598.15	protein_coding	CAD|CPAN|DFF-40|DFF2|DFF40	1p36.32	DNA fragmentation factor subunit beta	Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some of these variants has not been determined. [provided by RefSeq, Sep 2013]
DFFBP1	chr9	32566148	32567126	-	ENSG00000232303.2	processed_pseudogene	-	9p21.1	DNA fragmentation factor subunit beta pseudogene 1	-
DGAT1	chr8	144314584	144326910	-	ENSG00000185000.11	protein_coding	ARAT|ARGP1|DGAT|DIAR7	8q24.3	diacylglycerol O-acyltransferase 1	This gene encodes an multipass transmembrane protein that functions as a key metabolic enzyme. The encoded protein catalyzes the conversion of diacylglycerol and fatty acyl CoA to triacylglycerol. This enzyme can also transfer acyl CoA to retinol. Activity of this protein may be associated with obesity and other metabolic diseases. [provided by RefSeq, Jul 2013]
DGAT2	chr11	75759512	75801535	+	ENSG00000062282.14	protein_coding	ARAT|GS1999FULL|HMFN1045	11q13.5	diacylglycerol O-acyltransferase 2	This gene encodes one of two enzymes which catalyzes the final reaction in the synthesis of triglycerides in which diacylglycerol is covalently bound to long chain fatty acyl-CoAs. The encoded protein catalyzes this reaction at low concentrations of magnesium chloride while the other enzyme has high activity at high concentrations of magnesium chloride. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
DGCR2	chr22	19036282	19122454	-	ENSG00000070413.19	protein_coding	DGS-C|IDD|LAN|SEZ-12	22q11.21	DiGeorge syndrome critical region gene 2	Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
DGCR5	chr22	18970514	18994628	+	ENSG00000237517.9	transcribed_unprocessed_pseudogene	DGCR10|DGCR9|DGS-A|DGS-B|LINC00037|NCRNA00037|POM121L5P	22q11.21	DiGeorge syndrome critical region gene 5	Biomarker of Huntingtons disease. [provided by Alliance of Genome Resources, Apr 2022]
DGCR6	chr22	18906028	18914238	+	ENSG00000183628.12	protein_coding	-	22q11.21|22q11	DiGeorge syndrome critical region gene 6	Broad expression in heart (RPKM 20.8), testis (RPKM 17.8) and 25 other tissues
DGCR6L	chr22	20314276	20320080	-	ENSG00000128185.9	protein_coding	DGCR6	22q11.21	DiGeorge syndrome critical region gene 6 like	This gene, the result of a duplication at this locus, is one of two functional genes encoding nearly identical proteins that have similar expression patterns. The product of this gene is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome. [provided by RefSeq, Jul 2008]
DGCR8	chr22	20080232	20111877	+	ENSG00000128191.15	protein_coding	C22orf12|DGCRK6|Gy1|pasha	22q11.21	DGCR8 microprocessor complex subunit	This gene encodes a subunit of the microprocessor complex which mediates the biogenesis of microRNAs from the primary microRNA transcript. The encoded protein is a double-stranded RNA binding protein that functions as the non-catalytic subunit of the microprocessor complex. This protein is required for binding the double-stranded RNA substrate and facilitates cleavage of the RNA by the ribonuclease III protein, Drosha. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
DGKA	chr12	55927319	55954027	+	ENSG00000065357.19	protein_coding	DAGK|DAGK1|DGK-alpha	12q13.2	diacylglycerol kinase alpha	The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It acts as a modulator that competes with protein kinase C for the second messenger diacylglycerol in intracellular signaling pathways. It also plays an important role in the resynthesis of phosphatidylinositols and phosphorylating diacylglycerol to phosphatidic acid. Several transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Apr 2017]
DGKB	chr7	14145049	14974777	-	ENSG00000136267.13	protein_coding	DAGK2|DGK|DGK-BETA	7p21.2	diacylglycerol kinase beta	Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta isotype. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]
DGKD	chr2	233354507	233472104	+	ENSG00000077044.10	protein_coding	DGK-delta|DGKdelta|dgkd-2	2q37.1	diacylglycerol kinase delta	This gene encodes a cytoplasmic enzyme that phosphorylates diacylglycerol to produce phosphatidic acid. Diacylglycerol and phosphatidic acid are two lipids that act as second messengers in signaling cascades. Their cellular concentrations are regulated by the encoded protein, and so it is thought to play an important role in cellular signal transduction. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
DGKE	chr17	56834099	56869567	+	ENSG00000153933.9	protein_coding	AHUS7|DAGK5|DAGK6|DGK|NPHS7	17q22	diacylglycerol kinase epsilon	Diacylglycerol kinases are thought to be involved mainly in the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction.  When expressed in mammalian cells, DGK-epsilon shows specificity for arachidonyl-containing diacylglycerol. DGK-epsilon is expressed predominantly in testis. [provided by RefSeq, Jul 2008]
DGKG	chr3	186105668	186362237	-	ENSG00000058866.14	protein_coding	DAGK3|DGK-GAMMA	3q27.2-q27.3	diacylglycerol kinase gamma	This gene encodes an enzyme that is a member of the type I subfamily of diacylglycerol kinases, which are involved in lipid metabolism. These enzymes generate phosphatidic acid by catalyzing the phosphorylation of diacylglycerol, a fundamental lipid second messenger that activates numerous proteins, including protein kinase C isoforms, Ras guanyl nucleotide-releasing proteins and some transient receptor potential channels. Diacylglycerol kinase gamma has been implicated in cell cycle regulation and in the negative regulation of macrophage differentiation in leukemia cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
DGKH	chr13	42040036	42256578	+	ENSG00000102780.16	protein_coding	DGKeta	13q14.11	diacylglycerol kinase eta	This gene encodes a member of the diacylglycerol kinase (DGK) enzyme family. Members of this family are involved in regulating intracellular concentrations of diacylglycerol and phosphatidic acid. Variation in this gene has been associated with bipolar disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jul 2014]
DGKI	chr7	137381037	137847092	-	ENSG00000157680.15	protein_coding	DGK-IOTA	7q33	diacylglycerol kinase iota	This gene is a member of the type IV diacylglycerol kinase subfamily.  Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid.  The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration. [provided by RefSeq, Jul 2008]
DGKQ	chr4	958887	986895	-	ENSG00000145214.13	protein_coding	DAGK|DAGK4|DAGK7	4p16.3	diacylglycerol kinase theta	The protein encoded by this gene contains three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an overlapping Ras-associating domain. It is localized in the speckle domains of the nucleus, and mediates the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. [provided by RefSeq, Jul 2008]
DGKZ	chr11	46332905	46380554	+	ENSG00000149091.15	protein_coding	DAGK5|DAGK6|DGK-ZETA|hDGKzeta	11p11.2	diacylglycerol kinase zeta	The protein encoded by this gene belongs to the eukaryotic diacylglycerol kinase family. It may attenuate protein kinase C activity by regulating diacylglycerol levels in intracellular signaling cascade and signal transduction. Alternative splicing occurs at this locus and multiple transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2010]
DGLUCY	chr14	 91060333	91225632	+	ENSG00000133943	protein-coding	C14orf159	14q32.11	D-glutamate cyclase	Ubiquitous expression in heart (RPKM 27.3), kidney (RPKM 11.9) and 24 other tissues
DGUOK	chr2	73926826	73958961	+	ENSG00000114956.19	protein_coding	MTDPS3|NCPH|NCPH1|PEOB4|dGK	2p13.1	deoxyguanosine kinase	In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by two deoxyribonucleoside kinases, cytosolic deoxycytidine kinase and mitochondrial deoxyguanosine kinase. The protein encoded by this gene is responsible for phosphorylation of purine deoxyribonucleosides in the mitochondrial matrix. In addition, this protein phosphorylates several purine deoxyribonucleoside analogs used in the treatment of lymphoproliferative disorders, and this phosphorylation is critical for the effectiveness of the analogs. Alternative splice variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
DGUOK-AS1	chr2	73947642	73981441	-	ENSG00000237883.1	antisense	-	2p13.1	DGUOK antisense RNA 1	-
DHCR24	chr1	54849633	54887218	-	ENSG00000116133.11	protein_coding	DCE|Nbla03646|SELADIN1|seladin-1	1p32.3	24-dehydrocholesterol reductase	This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008]
DHDDS	chr1	26432282	26471294	+	ENSG00000117682.16	protein_coding	CIT|CPT|DEDSM|DS|HDS|RP59|hCIT	1p36.11	dehydrodolichyl diphosphate synthase subunit	The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
DHDH	chr19	48933682	48944969	+	ENSG00000104808.7	protein_coding	2DD|HUM2DD	19q13.33	dihydrodiol dehydrogenase	This gene encodes an enzyme that belongs to the family of dihydrodiol dehydrogenases, which exist in multiple forms in mammalian tissues and are involved in the metabolism of xenobiotics and sugars. These enzymes catalyze the NADP1-linked oxidation of transdihydrodiols of aromatic hydrocarbons to corresponding catechols. This enzyme is a dimeric dihydrodiol dehydrogenase, and it differs from monomeric dihydrodiol dehydrogenases in its high substrate specificity for trans-dihydrodiols of aromatic hydrocarbons in the oxidative direction. [provided by RefSeq, Jul 2008]
DHFR	chr5	80626228	80654983	-	ENSG00000228716.6	protein_coding	DHFRP1|DYR	5q14.1	dihydrofolate reductase	Dihydrofolate reductase converts dihydrofolate into tetrahydrofolate, a methyl group shuttle required for the de novo synthesis of purines, thymidylic acid, and certain amino acids. While the functional dihydrofolate reductase gene has been mapped to chromosome 5, multiple intronless processed pseudogenes or dihydrofolate reductase-like genes have been identified on separate chromosomes. Dihydrofolate reductase deficiency has been linked to megaloblastic anemia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
DHFR2	chr3	94047836	94063389	-	ENSG00000178700.7	protein_coding	DHFRL1|DHFRP4	3q11.2	dihydrofolate reductase 2	Ubiquitous expression in ovary (RPKM 4.0), endometrium (RPKM 4.0) and 25 other tissues
DHFRP2	chr6	31366352	31366898	-	ENSG00000228432.1	processed_pseudogene	-	6p21.33	dihydrofolate reductase pseudogene 2	-
DHH	chr12	49089421	49094819	-	ENSG00000139549.2	protein_coding	GDMN|GDXYM|HHG-3|SRXY7	12q13.12	desert hedgehog signaling molecule	This gene encodes a member of the hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development. [provided by RefSeq, May 2010]
DHODH	chr16	72008588	72027664	+	ENSG00000102967.11	protein_coding	DHOdehase|POADS|URA1	16q22.2	dihydroorotate dehydrogenase (quinone)	The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]
DHPS	chr19	12675717	12681902	-	ENSG00000095059.15	protein_coding	DHS|DS|MIG13|NEDSSWI	19p13.13	deoxyhypusine synthase	This gene encodes a protein that is required for the formation of hypusine, a unique amino acid formed by the posttranslational modification of only one protein, eukaryotic translation initiation factor 5A. The encoded protein catalyzes the first step in hypusine formation by transferring the butylamine moiety of spermidine to a specific lysine residue of the eukaryotic translation initiation factor 5A precursor, forming an intermediate deoxyhypusine residue. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2011]
DHRS1	chr14	24290598	24299833	-	ENSG00000157379.13	protein_coding	SDR19C1	14q12	dehydrogenase/reductase 1	This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded enzyme contains a conserved catalytic domain and likely functions as an oxidoreductase. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]
DHRS11	chr17	36591798	36600806	+	ENSG00000278535.4	protein_coding	ARPG836|SDR24C1|spDHRS11	17q12	dehydrogenase/reductase 11	Biased expression in duodenum (RPKM 115.7), small intestine (RPKM 99.1) and 4 other tissues
DHRS12	chr13	51767993	51804157	-	ENSG00000102796.10	protein_coding	SDR40C1	13q14.3	dehydrogenase/reductase 12	This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members in this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]
DHRS13	chr17	28897781	28903071	-	ENSG00000167536.13	protein_coding	SDR7C5	17q11.2	dehydrogenase/reductase 13	Broad expression in bone marrow (RPKM 14.4), prostate (RPKM 8.4) and 25 other tissues
DHRS2	chr14	23630115	23645639	+	ENSG00000100867.14	protein_coding	HEP27|SDR25C1	14q11.2	dehydrogenase/reductase 2	This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members of this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. Alternative promoter use and alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
DHRS3	chr1	12567910	12617731	-	ENSG00000162496.8	protein_coding	DD83.1|RDH17|Rsdr1|SDR1|SDR16C1|retSDR1	1p36.21	dehydrogenase/reductase 3	Short-chain dehydrogenases/reductases (SDRs), such as DHRS3, catalyze the oxidation/reduction of a wide range of substrates, including retinoids and steroids (Haeseleer and Palczewski, 2000 [PubMed 10800688]).[supplied by OMIM, Jun 2009]
DHRS4	chr14	23953586	23969279	+	ENSG00000157326.18	protein_coding	CR|NRDR|PHCR|PSCD|SCAD-SRL|SDR-SRL|SDR25C1|SDR25C2	14q11.2	dehydrogenase/reductase 4	Broad expression in kidney (RPKM 98.6), small intestine (RPKM 30.5) and 22 other tissues
DHRS4-AS1	chr14	23938731	23988839	-	ENSG00000215256.3	antisense	AS1DHRS4|C14orf167|C14orf67|DHRS4AS1|PRO1488	14q11.2	DHRS4 antisense RNA 1	Ubiquitous expression in kidney (RPKM 24.8), duodenum (RPKM 10.1) and 24 other tissues
DHRS4L2	chr14	23969874	24006408	+	ENSG00000187630.15	protein_coding	SDR25C3	14q11.2	dehydrogenase/reductase 4 like 2	This gene encodes a member of the short chain dehydrogenase reductase family. The encoded protein may be an NADPH dependent retinol oxidoreductase. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
DHRS7	chr14	60144120	60169856	-	ENSG00000100612.13	protein_coding	CGI-86|SDR34C1|retDSR4|retSDR4	14q23.1	dehydrogenase/reductase 7	This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family, which has over 46,000 members. Members in this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. [provided by RefSeq, Apr 2016]
DHRS7B	chr17	21123364	21193265	+	ENSG00000109016.17	protein_coding	CGI-93|SDR32C1	17p11.2	dehydrogenase/reductase 7B	This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008]
DHRS7C	chr17	9771434	9791297	-	ENSG00000184544.11	protein_coding	SDR32C2	17p13.1	dehydrogenase/reductase 7C	Restricted expression toward heart (RPKM 31.7)
DHRS9	chr2	169064789	169096167	+	ENSG00000073737.16	protein_coding	3-alpha-HSD|3ALPHA-HSD|RDH-E2|RDH-TBE|RDH15|RDHL|RDHTBE|RETSDR8|SDR9C4	2q31.1	dehydrogenase/reductase 9	This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. This protein demonstrates oxidoreductase activity toward hydroxysteroids and is able to convert 3-alpha-tetrahydroprogesterone to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone in the cytoplasm, and may additionally function as a transcriptional repressor in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
DHRSX	chrX	2219516	2502805	-	ENSG00000169084.13	protein_coding	CXorf11|DHRS5X|DHRS5Y|DHRSXY|DHRSY|SDR46C1|SDR7C6	Xp22.33 and Yp11.2	dehydrogenase/reductase X-linked	Ubiquitous expression in kidney (RPKM 6.0), liver (RPKM 5.1) and 25 other tissues
DHTKD1	chr10	12068972	12123225	+	ENSG00000181192.11	protein_coding	AAKAD|AMOXAD|CMT2Q	10p14	dehydrogenase E1 and transketolase domain containing 1	This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013]
DHX15	chr4	24517441	24584550	-	ENSG00000109606.12	protein_coding	DBP1|DDX15|PRP43|PRPF43|PrPp43p	4p15.2	DEAH-box helicase 15	The protein encoded by this gene is a putative ATP-dependent RNA helicase implicated in pre-mRNA splicing. [provided by RefSeq, Jul 2008]
DHX16	chr6	30653119	30673037	-	ENSG00000204560.9	protein_coding	DBP2|DDX16|NMOAS|PRO2014|PRP8|PRPF2|Prp2	6p21.33	DEAH-box helicase 16	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a functional homolog of fission yeast Prp8 protein involved in cell cycle progression. This gene is mapped to the MHC region on chromosome 6p21.3, a region where many malignant, genetic and autoimmune disease genes are linked. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2018]
DHX29	chr5	55256245	55307722	-	ENSG00000067248.9	protein_coding	DDX29	5q11.2	DExH-box helicase 29	This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein functions in translation initiation, and is specifically required for ribosomal scanning across stable mRNA secondary structures during initiation codon selection. This protein may also play a role in sensing virally derived cytosolic nucleic acids. Knockdown of this gene results in reduced protein translation and impaired proliferation of cancer cells. [provided by RefSeq, Sep 2016]
DHX30	chr3	47802909	47850195	+	ENSG00000132153.14	protein_coding	DDX30|NEDMIAL|RETCOR	3p21.31	DExH-box helicase 30	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The family member encoded by this gene is a mitochondrial nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a transcriptional repressor complex that functions in retinal development, and it is required to optimize the function of the zinc-finger antiviral protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
DHX32	chr10	125836337	125896436	-	ENSG00000089876.11	protein_coding	DDX32|DHLP1	10q26.2	DEAH-box helicase 32 (putative)	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. [provided by RefSeq, Jul 2008]
DHX33	chr17	5440912	5469060	-	ENSG00000005100.12	protein_coding	DDX33	17p13.2	DEAH-box helicase 33	This gene encodes a member of the DEAD box protein family. The DEAD box proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
DHX34	chr19	47349281	47382704	+	ENSG00000134815.18	protein_coding	DDX34|HRH1	19q13.32	DExH-box helicase 34	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. It is mapped to the glioma 19q tumor suppressor region and is a tumor suppressor candidate gene. [provided by RefSeq, Jul 2008]
DHX35	chr20	38962299	39039723	+	ENSG00000101452.14	protein_coding	C20orf15|DDX35|KAIA0875	20q11.23-q12	DEAH-box helicase 35	DEAD box proteins characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The function of this gene product which is a member of this family, has not been determined. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2010]
DHX36	chr3	154272546	154324497	-	ENSG00000174953.13	protein_coding	DDX36|G4R1|MLEL1|RHAU	3q25.2	DEAH-box helicase 36	This gene is a member of the DEAH-box family of RNA-dependent NTPases which are named after the conserved amino acid sequence Asp-Glu-Ala-His in motif II. The protein encoded by this gene has been shown to enhance the deadenylation and decay of mRNAs with 3-UTR AU-rich elements (ARE-mRNA). The protein has also been shown to resolve into single strands the highly stable tetramolecular DNA configuration (G4) that can form spontaneously in guanine-rich regions of DNA. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
DHX37	chr12	124946825	124989122	-	ENSG00000150990.7	protein_coding	DDX37|Dhr1|NEDBAVC|SRXY11	12q24.31	DEAH-box helicase 37	This gene encodes a DEAD box protein. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. [provided by RefSeq, Jul 2008]
DHX38	chr16	72093562	72112912	+	ENSG00000140829.11	protein_coding	DDX38|PRP16|PRPF16|RP84	16q22.2	DEAH-box helicase 38	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process. [provided by RefSeq, Jul 2008]
DHX40	chr17	59565525	59608345	+	ENSG00000108406.9	protein_coding	ARG147|DDX40|PAD	17q23.1	DEAH-box helicase 40	This gene encodes a member of the DExH/D box family of ATP-dependent RNA helicases that have an essential role in RNA metabolism. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Oct 2009]
DHX40P1	chr17	59976009	60002384	-	ENSG00000266992.1	transcribed_unprocessed_pseudogene	DHX40P	17q23.1	DEAH-box helicase 40 pseudogene 1	-
DHX57	chr2	38797729	38875934	-	ENSG00000163214.20	protein_coding	DDX57	2p22.1	DExH-box helicase 57	Broad expression in testis (RPKM 16.0), brain (RPKM 4.7) and 24 other tissues
DHX58	chr17	42101404	42112733	-	ENSG00000108771.12	protein_coding	D11LGP2|D11lgp2e|LGP2|RLR-3	17q21.2	DExH-box helicase 58	Ubiquitous expression in spleen (RPKM 10.6), testis (RPKM 8.8) and 25 other tissues
DHX8	chr17	43483865	43544463	+	ENSG00000067596.10	protein_coding	DDX8|Dhr2|HRH1|PRP22|PRPF22	17q21.31	DEAH-box helicase 8	This gene is a member of the DEAH box polypeptide family. The encoded protein contains the DEAH (Asp-Glu-Ala-His) motif which is characteristic of all DEAH box proteins, and is thought to function as an ATP-dependent RNA helicase that regulates the release of spliced mRNAs from spliceosomes prior to their export from the nucleus. This protein may be required for the replication of human immunodeficiency virus type 1 (HIV-1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
DIABLO	chr12	122207662	122227534	-	ENSG00000184047.16	protein_coding	DFNA64|SMAC	12q24.31	diablo IAP-binding mitochondrial protein	This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and allows activation of caspases by binding to inhibitor of apoptosis proteins. Overexpression of the encoded protein sensitizes tumor cells to apoptosis. A mutation in this gene is associated with young-adult onset of nonsyndromic deafness-64. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
DIAPH1	chr5	141515016	141619055	-	ENSG00000131504.15	protein_coding	DFNA1|DIA1|DRF1|LFHL1|SCBMS|hDIA1|mDia1	5q31.3	diaphanous related formin 1	This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
DIAPH3	chr13	59665583	60163987	-	ENSG00000139734.17	protein_coding	AN|AUNA1|DIA2|DRF3|NSDAN|diap3|mDia2	13q21.2	diaphanous related formin 3	This gene encodes a member of the diaphanous subfamily of the formin family. Members of this family are involved in actin remodeling and regulate cell movement and adhesion. Mutations in this gene are associated with autosomal dominant auditory neuropathy 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
DICER1	chr14	95086228	95158010	-	ENSG00000100697.14	protein_coding	DCR1|Dicer|Dicer1e|GLOW|HERNA|K12H4.8-LIKE|MNG1|RMSE2|aviD	14q32.13	dicer 1, ribonuclease III	This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and is required by the RNA interference and small temporal RNA (stRNA) pathways to produce the active small RNA component that represses gene expression. This protein also acts as a strong antiviral agent with activity against RNA viruses, including the Zika and SARS-CoV-2 viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2021]
DIDO1	chr20	62877738	62937952	-	ENSG00000101191.16	protein_coding	BYE1|C20orf158|DATF-1|DATF1|DIDO2|DIDO3|DIO-1|DIO1|dJ885L7.8	20q13.33	death inducer-obliterator 1	Apoptosis, a major form of cell death, is an efficient mechanism for eliminating unwanted cells and is of central importance for development and homeostasis in metazoan animals. In mice, the death inducer-obliterator-1 gene is upregulated by apoptotic signals and encodes a cytoplasmic protein that translocates to the nucleus upon apoptotic signal activation. When overexpressed, the mouse protein induced apoptosis in cell lines growing in vitro. This gene is similar to the mouse gene and therefore is thought to be involved in apoptosis. Alternatively spliced transcripts have been found for this gene, encoding multiple isoforms. [provided by RefSeq, Jul 2008]
DIMT1	chr5	62387254	62403939	-	ENSG00000086189.9	protein_coding	DIM1|DIMT1L|HSA9761|HUSSY5	5q12.1	DIM1 rRNA methyltransferase and ribosome maturation factor	The protein encoded by this gene is a methyltransferase that is responsible for dimethylation of adjacent adenosines near the 18S rRNA decoding site. The encoded protein is essential for ribosome biogenesis, although its catalytic activity is not involved in the process. The yeast ortholog of this protein functions in the cytoplasm while this protein functions in the nucleus. [provided by RefSeq, Jan 2017]
DIO2	chr14	80197527	80387757	-	ENSG00000211448.11	protein_coding	5DII|D2|DIOII|SELENOY|SelY|TXDI2	14q31.1	iodothyronine deiodinase 2	The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the conversion of prohormone thyroxine (3,5,3,5-tetraiodothyronine, T4) to the bioactive thyroid hormone (3,5,3-triiodothyronine, T3) by outer ring 5-deiodination. This gene is widely expressed, including in thyroid and brain. It is thought to be responsible for the local production of T3, and thus important in influencing thyroid hormone action in these tissues. It has also been reported to be highly expressed in thyroids of patients with Graves disease, and in follicular adenomas. The intrathyroidal T4 to T3 conversion by this enzyme may contribute significantly to the relative increase in thyroidal T3 production in these patients. This protein is a selenoprotein containing the non-standard amino acid, selenocysteine (Sec), which is encoded by the UGA codon that normally signals translation termination. The 3 UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Unlike the other two members (DIO1 and DIO3) of this enzyme family, the mRNA for this gene contains an additional in-frame UGA codon that has been reported (in human) to function either as a Sec or a stop codon, which can result in two isoforms with one or two Sec residues; however, only the upstream Sec (conserved with the single Sec residue found at the active site in DIO1 and DIO3) was shown to be essential for enzyme activity (PMID:10403186). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2018]
DIP2A	chr21	46458899	46569852	+	ENSG00000160305.17	protein_coding	C21orf106|DIP2	21q22.3	disco interacting protein 2 homolog A	The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
DIP2B	chr12	50504985	50748667	+	ENSG00000066084.12	protein_coding	-	12q13.12	disco interacting protein 2 homolog B	Ubiquitous expression in brain (RPKM 13.6), skin (RPKM 9.4) and 25 other tissues
DIP2C	chr10	274190	689668	-	ENSG00000151240.16	protein_coding	KIAA0934	10p15.3	disco interacting protein 2 homolog C	This gene encodes a member of the disco-interacting protein homolog 2 family. The protein shares strong similarity with a Drosophila protein which interacts with the transcription factor disco and is expressed in the nervous system. [provided by RefSeq, Oct 2008]
DIPK1A	chr1	 92832729	92961462	-	ENSG00000154511	protein-coding	FAM69A	1p22.1	divergent protein kinase domain 1A	This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
DIPK1B	chr9	 136712572	136724742	+	ENSG00000165716	protein-coding	C9orf136|FAM69B|pp6977	9q34.3	divergent protein kinase domain 1B	This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]
DIPK1C	chr18	 74434775	74464648	-	ENSG00000187773	protein-coding	C18orf51|FAM69C	18q22.3	divergent protein kinase domain 1C	This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]
DIPK2A	chr3	 143971798	143992368	+	ENSG00000181744	protein-coding	C3orf58|DIA1|GoPro49|HASF	3q24	divergent protein kinase domain 2A	Ubiquitous expression in placenta (RPKM 13.9), bone marrow (RPKM 9.8) and 24 other tissues
DIRAS1	chr19	2714567	2721418	-	ENSG00000176490.4	protein_coding	Di-Ras1|GBTS1|RIG	19p13.3	DIRAS family GTPase 1	DIRAS1 belongs to a distinct branch of the functionally diverse Ras (see HRAS; MIM 190020) superfamily of monomeric GTPases.[supplied by OMIM, Apr 2004]
DIRAS3	chr1	68045962	68051631	-	ENSG00000162595.5	protein_coding	ARHI|NOEY2	1p31.3	DIRAS family GTPase 3	This gene encodes a member of the ras superfamily. This gene is imprinted gene with monoallelic expression of the paternal allele which is associated with growth suppression. The encoded protein acts as a tumor suppressor whose function is abrogated in many ovarian and breast cancers. This protein may also play a role autophagy in certain cancer cells by regulating the autophagosome initiation complex. [provided by RefSeq, Nov 2015]
DIRC3	chr2	217284019	217756593	-	ENSG00000231672.6	protein_coding	-	2q35	disrupted in renal carcinoma 3	-
DIRC3-AS1	chr2	217282739	217336120	+	ENSG00000233143.1	lincRNA	-	2q35	DIRC3 antisense RNA 1	-
DIS3	chr13	72752169	72782096	-	ENSG00000083520.14	protein_coding	2810028N01Rik|EXOSC11|KIAA1008|RRP44|dis3p	13q21.33	DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease	Ubiquitous expression in testis (RPKM 10.1), lymph node (RPKM 7.2) and 25 other tissues
DIS3L	chr15	66293217	66333898	+	ENSG00000166938.12	protein_coding	DIS3L1	15q22.31	DIS3 like exosome 3'-5' exoribonuclease	The cytoplasmic RNA exosome complex degrades unstable mRNAs and is involved in the regular turnover of other mRNAs. The protein encoded by this gene contains 3-5 exoribonuclease activity and is a catalytic component of this complex. [provided by RefSeq, May 2016]
DIS3L2	chr2	231961245	232344350	+	ENSG00000144535.19	protein_coding	FAM6A|PRLMNS|hDIS3L2	2q37.1	DIS3 like 3'-5' exoribonuclease 2	The protein encoded by this gene is similar in sequence to 3/5 exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Mar 2012]
DISP1	chr1	222872271	223005995	+	ENSG00000154309.8	protein_coding	DISPA	1q41	dispatched RND transporter family member 1	The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A novel segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched and, based on sequence identity to its mouse counterpart, the encoded protein may play an essential role in Hh patterning activities in the early embryo. [provided by RefSeq, Jul 2008]
DISP2	chr15	40358235	40378639	+	ENSG00000140323.5	protein_coding	C15orf36|DISPB|HsT16908|LINC00594	15q15.1	dispatched RND transporter family member 2	This gene is one of two human homologs of a segment-polarity gene known as dispatched identified in Drosophila. The product of this gene may be required for normal Hedgehog (Hh) signaling during embryonic pattern formation. [provided by RefSeq, Jan 2017]
DISP3	chr1	11479166	11537584	+	ENSG00000204624.7	protein_coding	PTCHD2	1p36.22	dispatched RND transporter family member 3	Biased expression in brain (RPKM 1.6), testis (RPKM 1.4) and 1 other tissue
DIXDC1	chr11	111927144	112022584	+	ENSG00000150764.13	protein_coding	CCD1	11q23.1	DIX domain containing 1	The protein encoded by this gene is a positive regulator of the Wnt signaling pathway. The encoded protein is found associated with gamma tubulin at the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
DKC1	chrX	154762742	154777689	+	ENSG00000130826.17	protein_coding	CBF5|DKC|DKCX|NAP57|NOLA4|XAP101	Xq28	dyskerin pseudouridine synthase 1	This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
DKK1	chr10	52314296	52318042	+	ENSG00000107984.9	protein_coding	DKK-1|SK	10q21.1	dickkopf WNT signaling pathway inhibitor 1	This gene encodes a member of the dickkopf family of proteins. Members of this family are secreted proteins characterized by two cysteine-rich domains that mediate protein-protein interactions. The encoded protein binds to the LRP6 co-receptor and inhibits beta-catenin-dependent Wnt signaling. This gene plays a role in embryonic development and may be important in bone formation in adults. Elevated expression of this gene has been observed in numerous human cancers and this protein may promote proliferation, invasion and growth in cancer cell lines. [provided by RefSeq, Sep 2017]
DKK2	chr4	106921802	107283806	-	ENSG00000155011.8	protein_coding	DKK-2	4q25	dickkopf WNT signaling pathway inhibitor 2	This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. It can act as either an agonist or antagonist of Wnt/beta-catenin signaling, depending on the cellular context and the presence of the co-factor kremen 2. Activity of this protein is also modulated by binding to the Wnt co-receptor LDL-receptor related protein 6 (LRP6). [provided by RefSeq, Jul 2008]
DKK3	chr11	11963106	12009769	-	ENSG00000050165.17	protein_coding	REIC|RIG	11p15.3	dickkopf WNT signaling pathway inhibitor 3	This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. The expression of this gene is decreased in a variety of cancer cell lines and it may function as a tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
DKK4	chr8	42374068	42377232	-	ENSG00000104371.4	protein_coding	DKK-4	8p11.21	dickkopf WNT signaling pathway inhibitor 4	This gene encodes a protein that is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. Activity of this protein is modulated by binding to the Wnt co-receptor and the co-factor kremen 2. [provided by RefSeq, Jul 2008]
DKKL1	chr19	49361783	49375116	+	ENSG00000104901.6	protein_coding	CT34|SGY|SGY-1|SGY1	19q13.33	dickkopf like acrosomal protein 1	The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. This gene encodes a secreted protein that has low sequence similarity to the dickkopf-3 protein. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
DLAT	chr11	112024814	112064390	+	ENSG00000150768.15	protein_coding	DLTA|E2|PBC|PDC-E2|PDCE2	11q23.1	dihydrolipoamide S-acetyltransferase	This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]
DLC1	chr8	13083361	13604610	-	ENSG00000164741.14	protein_coding	ARHGAP7|HP|STARD12|p122-RhoGAP	8p22	DLC1 Rho GTPase activating protein	This gene encodes a GTPase-activating protein (GAP) that is a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins. GAP family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. This gene functions as a tumor suppressor gene in a number of common cancers, including prostate, lung, colorectal, and breast cancers. Multiple transcript variants due to alternative promoters and alternative splicing have been found for this gene.[provided by RefSeq, Apr 2010]
DLD	chr7	107890970	107931730	+	ENSG00000091140.13	protein_coding	DLDD|DLDH|E3|GCSL|LAD|OGDC-E3|PHE3	7q31.1	dihydrolipoamide dehydrogenase	This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
DLEC1	chr3	38039205	38124025	+	ENSG00000008226.19	protein_coding	CFAP81|DLC-1|DLC1|F56|FAP81	3p22.2	DLEC1 cilia and flagella associated protein	The cytogenetic location of this gene is 3p21.3, and it is located in a region that is commonly deleted in a variety of malignancies. Down-regulation of this gene has been observed in several human cancers including lung, esophageal, renal tumors, and head and neck squamous cell carcinoma. In some cases, reduced expression of this gene in tumor cells is a result of aberrant promoter methylation. Several alternatively spliced transcripts have been observed that contain disrupted coding regions and likely encode nonfunctional proteins.[provided by RefSeq, Mar 2016]
DLEU1	chr13	50082171	50723236	+	ENSG00000176124.11	protein_coding	BCMS|BCMS1|DLB1|DLEU2|LEU1|LEU2|LINC00021|NCRNA00021|XTP6	13q14.2-q14.3	deleted in lymphocytic leukemia 1	Ubiquitous expression in testis (RPKM 1.6), colon (RPKM 1.5) and 25 other tissues
DLEU1-AS1	chr13	50520933	50527449	-	ENSG00000229323.1	lincRNA	LINC01308	13q14.3	DLEU1 antisense RNA 1	Low expression observed in reference dataset
DLEU2	chr13	49982552	50125720	-	ENSG00000231607.10	antisense	ALT1|BCMSUN|DLB2|LEU2|LINC00022|MIR15AHG|NCRNA00022|RFP2|RFP2OS|TRIM13OS	13q14.2	deleted in lymphocytic leukemia 2	This locus represents a microRNA host gene and also produces long alternatively spliced non-coding RNAs. This genome region was observed to be deleted or epigenetically suppressed in leukemia, and was implicated as a negative regulator of cell proliferation. However, an alternative transcript produced at this locus was also found to promote progression through the cell cycle via angiotensin I converting enzyme 2 and cyclin D1. [provided by RefSeq, Dec 2017]
DLEU7	chr13	50711008	50843939	-	ENSG00000186047.9	protein_coding	-	13q14.3	deleted in lymphocytic leukemia 7	-
DLEU7-AS1	chr13	50807856	50849905	+	ENSG00000237152.3	antisense	-	13q14.3	DLEU7 antisense RNA 1	-
DLG1	chr3	197042560	197299300	-	ENSG00000075711.20	protein_coding	DLGH1|SAP-97|SAP97|hdlg	3q29	discs large MAGUK scaffold protein 1	This gene encodes a multi-domain scaffolding protein that is required for normal development. This protein may have a role in septate junction formation, signal transduction, cell proliferation, synaptogenesis and lymphocyte activation. A multitude of transcript variants deriving from alternative splicing and the use of multiple alternate promoter have been observed, including some splice variants that may be specific to brain and other tissues. An upstream uORF may regulate translation at some splice variants of this gene. [provided by RefSeq, Sep 2018]
DLG1-AS1	chr3	197298252	197303747	+	ENSG00000227375.5	antisense	-	3q29	DLG1 antisense RNA 1	-
DLG2	chr11	83455012	85627922	-	ENSG00000150672.16	protein_coding	PPP1R58|PSD-93|PSD93|chapsyn-110	11q14.1	discs large MAGUK scaffold protein 2	This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. The encoded protein forms a heterodimer with a related family member that may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described, but their full-length nature is not known. [provided by RefSeq, Dec 2008]
DLG4	chr17	7189890	7219702	-	ENSG00000132535.18	protein_coding	MRD62|PSD95|SAP-90|SAP90	17p13.1	discs large MAGUK scaffold protein 4	This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) family. It heteromultimerizes with another MAGUK protein, DLG2, and is recruited into NMDA receptor and potassium channel clusters. These two MAGUK proteins may interact at postsynaptic sites to form a multimeric scaffold for the clustering of receptors, ion channels, and associated signaling proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
DLG5	chr10	77790791	77926526	-	ENSG00000151208.16	protein_coding	LP-DLG|P-DLG5|PDLG	10q22.3	discs large MAGUK scaffold protein 5	This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
DLG5-AS1	chr10	77927372	77929824	+	ENSG00000233871.2	processed_transcript	-	10q22.3	DLG5 antisense RNA 1	-
DLGAP1	chr18	3496032	4455335	-	ENSG00000170579.16	protein_coding	DAP-1|DAP-1-ALPHA|DAP-1-BETA|DAP1|DLGAP1A|DLGAP1B|GKAP|SAPAP1	18p11.31	DLG associated protein 1	Biased expression in brain (RPKM 19.8), testis (RPKM 1.7) and 2 other tissues
DLGAP4	chr20	36306336	36528637	+	ENSG00000080845.17	protein_coding	DAP-4|DAP4|DLP4|SAPAP-4|SAPAP4	20q11.23	DLG associated protein 4	The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in the postsynaptic density region. The encoded protein is one of at least four similar proteins that have been found. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
DLGAP5	chr14	55148112	55191678	-	ENSG00000126787.12	protein_coding	DLG7|HURP	14q22.3	DLG associated protein 5	Biased expression in bone marrow (RPKM 9.4), testis (RPKM 9.1) and 12 other tissues
DLK1	chr14	100725705	100738224	+	ENSG00000185559.13	protein_coding	DLK|DLK-1|Delta1|FA1|PREF1|Pref-1|ZOG|pG2	14q32.2	delta like non-canonical Notch ligand 1	This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015]
DLK2	chr6	43450352	43456632	-	ENSG00000171462.14	protein_coding	DLK-2|EGFL9	6p21.1	delta like non-canonical Notch ligand 2	Predicted to enable Notch binding activity. Involved in negative regulation of Notch signaling pathway. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
DLL1	chr6	170282206	170306565	-	ENSG00000198719.8	protein_coding	DELTA1|DL1|Delta|NEDBAS	6q27	delta like canonical Notch ligand 1	 DLL1 is a human homolog of the Notch Delta ligand and is a member of the delta/serrate/jagged family.  It plays a role in mediating cell fate decisions during hematopoiesis. It may play a role in cell-to-cell communication. [provided by RefSeq, Jul 2008]
DLL4	chr15	40929340	40939072	+	ENSG00000128917.6	protein_coding	AOS6|delta4|hdelta2	15q15.1	delta like canonical Notch ligand 4	This gene is a homolog of the Drosophila delta gene. The delta gene family encodes Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. [provided by RefSeq, Jul 2008]
DLST	chr14	74881891	74903745	+	ENSG00000119689.14	protein_coding	DLTS|KGD2|PGL7	14q24.3	dihydrolipoamide S-succinyltransferase	This gene encodes a mitochondrial protein that belongs to the 2-oxoacid dehydrogenase family. This protein is one of the three components (the E2 component) of the 2-oxoglutarate dehydrogenase complex that catalyzes the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]
DLSTP1	chr1	75743423	75744776	-	ENSG00000181227.3	processed_pseudogene	DLSTP	1p31.1	dihydrolipoamide S-succinyltransferase pseudogene 1	-
DLX1	chr2	172084740	172089677	+	ENSG00000144355.14	protein_coding	-	2q31.1	distal-less homeobox 1	Biased expression in brain (RPKM 2.1), adrenal (RPKM 1.3) and 5 other tissues
DLX2	chr2	172099439	172102900	-	ENSG00000115844.10	protein_coding	TES-1|TES1	2q31.1	distal-less homeobox 2	Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 2. [provided by RefSeq, Jul 2008]
DLX3	chr17	49990005	49995224	-	ENSG00000064195.7	protein_coding	AI4|TDO	17q21.33	distal-less homeobox 3	Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome (TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17. Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome and amelogenesis imperfecta with taurodontism. [provided by RefSeq, Jul 2008]
DLX4	chr17	49968970	49974959	+	ENSG00000108813.10	protein_coding	BP1|DLX7|DLX8|DLX9|OFC15	17q21.33	distal-less homeobox 4	Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform functions as a repressor of the beta-globin gene while the other isoform lacks that function. [provided by RefSeq, Jul 2008]
DLX5	chr7	97020392	97025097	-	ENSG00000105880.4	protein_coding	SHFM1|SHFM1D	7q21.3	distal-less homeobox 5	This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. [provided by RefSeq, Jul 2008]
DLX6	chr7	97005548	97011039	+	ENSG00000006377.10	protein_coding	-	7q21.3	distal-less homeobox 6	Biased expression in testis (RPKM 2.2), placenta (RPKM 2.1) and 5 other tissues
DLX6-AS1	chr7	96955141	97014065	-	ENSG00000231764.8	antisense	DLX6-AS|DLX6AS|Evf-2|NCRNA00212	7q21.3	DLX6 antisense RNA 1	Predicted to act upstream of or within positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
DM1-AS	chr19	 45767796	45771883	+	ENSG00000267395	ncRNA	-	19q13.32	DM1 locus antisense RNA	-
DMAC2	chr19	 41431318	41439912	-	ENSG00000105341	protein-coding	ATP5SL	19q13.2	distal membrane arm assembly component 2	Ubiquitous expression in heart (RPKM 21.0), duodenum (RPKM 16.7) and 25 other tissues
DMAC2L	chr14	 50311516	50327957	+	ENSG00000125375	protein-coding	ATP5S|ATPW|FB|HSU79253	14q21.3	distal membrane arm assembly component 2 like	This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
DMAP1	chr1	44213455	44220681	+	ENSG00000178028.13	protein_coding	DNMAP1|DNMTAP1|EAF2|MEAF2|SWC4	1p34.1	DNA methyltransferase 1 associated protein 1	This gene encodes a subunit of several, distinct complexes involved in the repression or activation of transcription. The encoded protein can independently repress transcription and is targeted to replication foci throughout S phase by interacting directly with the N-terminus of DNA methyltransferase 1. During late S phase, histone deacetylase 2 is added to this complex, providing a means to deacetylate histones in transcriptionally inactive heterochromatin following replication. The encoded protein is also a component of the nucleosome acetyltransferase of H4 complex and interacts with the transcriptional corepressor tumor susceptibility gene 101 and the pro-apoptotic death-associated protein 6, among others. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
DMBT1	chr10	122560665	122643736	+	ENSG00000187908.16	protein_coding	GP340|SAG|SALSA|muclin	10q26.13	deleted in malignant brain tumors 1	Loss of sequences from human chromosome 10q has been associated with the progression of human cancers. This gene was originally isolated based on its deletion in a medulloblastoma cell line. This gene is expressed with transcripts of 6.0, 7.5, and 8.0 kb in fetal lung and with one transcript of 8.0 kb in adult lung, although the 7.5 kb transcript has not been characterized. The encoded protein precursor is a glycoprotein containing multiple scavenger receptor cysteine-rich (SRCR) domains separated by SRCR-interspersed domains (SID). Transcript variant 2 (8.0 kb) has been shown to bind surfactant protein D independently of carbohydrate recognition. This indicates that DMBT1 may not be a classical tumor suppressor gene, but rather play a role in the interaction of tumor cells and the immune system. [provided by RefSeq, Mar 2016]
DMBX1	chr1	46506996	46514226	+	ENSG00000197587.10	protein_coding	MBX|OTX3|PAXB	1p33	diencephalon/mesencephalon homeobox 1	This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
DMC1	chr22	38518949	38570286	-	ENSG00000100206.9	protein_coding	DMC1H|LIM15|dJ199H16.1	22q13.1	DNA meiotic recombinase 1	This gene encodes a member of the superfamily of recombinases (also called DNA strand-exchange proteins). Recombinases are important for repairing double-strand DNA breaks during mitosis and meiosis. This protein, which is evolutionarily conserved, is reported to be essential for meiotic homologous recombination and may thus play an important role in generating diversity of genetic information. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
DMD	chrX	31097677	33339441	-	ENSG00000198947.15	protein_coding	BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85	Xp21.2-p21.1	dystrophin	This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]
DMGDH	chr5	78997606	79236038	-	ENSG00000132837.14	protein_coding	DMGDHD|ME2GLYDH	5q14.1	dimethylglycine dehydrogenase	This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
DMKN	chr19	35497220	35513658	-	ENSG00000161249.20	protein_coding	UNQ729|ZD52F10	19q13.12	dermokine	This gene is upregulated in inflammatory diseases, and it was first observed as expressed in the differentiated layers of skin. The most interesting aspect of this gene is the differential use of promoters and terminators to generate isoforms with unique cellular distributions and domain components. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]
DMP1	chr4	87650307	87664361	+	ENSG00000152592.13	protein_coding	ARHP|ARHR|DMP-1	4q22.1	dentin matrix acidic phosphoprotein 1	Dentin matrix acidic phosphoprotein is an extracellular matrix protein and a member of the small integrin binding ligand N-linked glycoprotein family. This protein, which is critical for proper mineralization of bone and dentin, is present in diverse cells of bone and tooth tissues. The protein contains a large number of acidic domains, multiple phosphorylation sites, a functional arg-gly-asp cell attachment sequence, and a DNA binding domain. In undifferentiated osteoblasts it is primarily a nuclear protein that regulates the expression of osteoblast-specific genes. During osteoblast maturation the protein becomes phosphorylated and is exported to the extracellular matrix, where it orchestrates mineralized matrix formation. Mutations in the gene are known to cause autosomal recessive hypophosphatemia, a disease that manifests as rickets and osteomalacia. The gene structure is conserved in mammals. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
DMPK	chr19	45769717	45782552	-	ENSG00000104936.17	protein_coding	DM|DM1|DM1PK|DMK|MDPK|MT-PK	19q13.32	DM1 protein kinase	The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3 untranslated region of this gene contains 5-38 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2016]
DMRT2	chr9	1049858	1057552	+	ENSG00000173253.15	protein_coding	DSXL-2	9p24.3	doublesex and mab-3 related transcription factor 2	The protein encoded by this gene belongs to the DMRT gene family, sharing a DM DNA-binding domain with Drosophila doublesex (dsx) and C. elegans mab3, genes involved in sex determination in these organisms. Also, this gene is located in a region of the human genome (chromosome 9p24.3) associated with gonadal dysgenesis and XY sex reversal. Hence this gene is one of the candidates for sex-determining gene(s) on chr 9. [provided by RefSeq, Apr 2010]
DMRTA1	chr9	22446841	22455740	+	ENSG00000176399.3	protein_coding	DMO|DMRT4	9p21.3	DMRT like family A1	Broad expression in liver (RPKM 4.0), kidney (RPKM 3.0) and 19 other tissues
DMRTA2	chr1	50417550	50423500	-	ENSG00000142700.11	protein_coding	-	1p32.3	DMRT like family A2	-
DMRTB1	chr1	53459399	53467488	+	ENSG00000143006.7	protein_coding	-	1p32.3	DMRT like family B with proline rich C-terminal 1	Restricted expression toward testis (RPKM 31.2)
DMTN	chr8	22048995	22082527	+	ENSG00000158856.17	protein_coding	DMT|EPB49	8p21.3	dematin actin binding protein	The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing in the 3 coding region, where the headpiece domain is located. Disruption of this gene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozygosity of this gene is thought to play a role in prostate cancer progression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]
DMWD	chr19	45782947	45792802	-	ENSG00000185800.11	protein_coding	D19S593E|DMR-N9|DMRN9|gene59	19q13.32	DM1 locus, WD repeat containing	Ubiquitous expression in testis (RPKM 11.5), brain (RPKM 11.3) and 25 other tissues
DMXL2	chr15	51447711	51622833	-	ENSG00000104093.13	protein_coding	DEE81|DFNA71|EIEE81|PEPNS|RC3	15q21.2	Dmx like 2	This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
DNA2	chr10	68414064	68472121	-	ENSG00000138346.14	protein_coding	DNA2L|hDNA2	10q21.3	DNA replication helicase/nuclease 2	This gene encodes a member of the DNA2/NAM7 helicase family. The encoded protein is a conserved helicase/nuclease involved in the maintenance of mitochondrial and nuclear DNA stability. Mutations in this gene are associated with autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) and Seckel syndrome 8. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
DNAAF1	chr16	84145287	84178767	+	ENSG00000154099.17	protein_coding	CILD13|DAU1|LRRC50|ODA7|swt	16q24.1	dynein axonemal assembly factor 1	The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
DNAAF10	chr2	 68129805	68157527	-	ENSG00000243667	protein-coding	WDR92	2p14	dynein axonemal assembly factor 10	-
DNAAF11	chr8	 132570416	132702913	-	ENSG00000129295	protein-coding	CILD19|LRRC6|LRTP|TSLRP|tilB	8q24.22	dynein axonemal assembly factor 11	-
DNAAF2	chr14	49625174	49635230	-	ENSG00000165506.14	protein_coding	C14orf104|CILD10|KTU|PF13	14q21.3	dynein axonemal assembly factor 2	This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in this gene have been associated with primary ciliary dyskinesia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
DNAAF3	chr19	55158661	55166722	-	ENSG00000167646.13	protein_coding	C19orf51|CILD2|DAB1|PCD|PF22	19q13.42	dynein axonemal assembly factor 3	The protein encoded by this gene is required for the assembly of axonemal inner and outer dynein arms and plays a role in assembling dynein complexes for transport into cilia. Defects in this gene are a cause of primary ciliary dyskinesia type 2 (CILD2). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
DNAAF4	chr15	 55417755	55508234	-	ENSG00000256061	protein-coding	CILD25|DYX1|DYX1C1|DYXC1|EKN1|RD	15q21.3	dynein axonemal assembly factor 4	This gene encodes a tetratricopeptide repeat domain-containing protein. The encoded protein interacts with estrogen receptors and the heat shock proteins, Hsp70 and Hsp90. An homologous protein in rat has been shown to function in neuronal migration in the developing neocortex. A chromosomal translocation involving this gene is associated with a susceptibility to developmental dyslexia. Mutations in this gene are associated with deficits in reading and spelling. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream cell cycle progression 1 (CCPG1) gene. [provided by RefSeq, Mar 2011]
DNAAF8	chr16	 4734537	4749396	+	ENSG00000166246	protein-coding	C16orf71	16p13.3	dynein axonemal assembly factor 8	-
DNAAF9	chr20	 3249306	3407669	-	ENSG00000088854	protein-coding	C20orf194	20p13	dynein axonemal assembly factor 9	-
DNAH1	chr3	52316319	52400491	+	ENSG00000114841.17	protein_coding	CILD37|DNAHC1|HDHC7|HL-11|HL11|HSRF-1|SPGF18|XLHSRF-1	3p21.1	dynein axonemal heavy chain 1	This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017]
DNAH10	chr12	123762188	123936206	+	ENSG00000197653.15	protein_coding	SPGF56	12q24.31	dynein axonemal heavy chain 10	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH10 is an inner arm dynein heavy chain (Maiti et al., 2000 [PubMed 11175280]).[supplied by OMIM, Mar 2008]
DNAH10OS	chr12	123926424	123934984	-	ENSG00000250091.2	protein_coding	-	12q24.31	dynein axonemal heavy chain 10 opposite strand	-
DNAH11	chr7	21543215	21901839	+	ENSG00000105877.17	protein_coding	CILD7|DNAHBL|DNAHC11|DNHBL|DPL11	7p15.3	dynein axonemal heavy chain 11	This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]
DNAH12	chr3	57293699	57544344	-	ENSG00000174844.14	protein_coding	DHC3|DLP12|DLP3|DNAH12L|DNAH7L|DNAHC12|DNAHC3|DNHD2|HDHC3|HL-19|HL19	3p14.3	dynein axonemal heavy chain 12	Biased expression in testis (RPKM 1.9), lung (RPKM 0.7) and 2 other tissues
DNAH14	chr1	224896262	225399292	+	ENSG00000185842.15	protein_coding	C1orf67|Dnahc14|HL-18|HL18	1q42.12	dynein axonemal heavy chain 14	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008]
DNAH17	chr17	78423697	78577394	-	ENSG00000187775.16	protein_coding	DNAHL1|DNEL2|SPGF39	17q25.3	dynein axonemal heavy chain 17	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]
DNAH2	chr17	7717354	7833744	+	ENSG00000183914.14	protein_coding	DNAHC2|DNHD3|SPGF45	17p13.1	dynein axonemal heavy chain 2	Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy chain (Chapelin et al., 1997 [PubMed 9256245]).[supplied by OMIM, Mar 2008]
DNAH3	chr16	20933111	21159441	-	ENSG00000158486.13	protein_coding	DNAHC3-B|DNAHC3B|HDHC8|HEL-36|HSADHC3	16p12.3	dynein axonemal heavy chain 3	This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]
DNAH5	chr5	13690331	13944543	-	ENSG00000039139.9	protein_coding	CILD3|DNAHC5|HL1|KTGNR|PCD	5p15.2	dynein axonemal heavy chain 5	This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]
DNAH7	chr2	195737703	196068812	-	ENSG00000118997.13	protein_coding	-	2q32.3	dynein axonemal heavy chain 7	Biased expression in testis (RPKM 2.6), thyroid (RPKM 0.9) and 7 other tissues
DNAH8	chr6	38715341	39030529	+	ENSG00000124721.17	protein_coding	ATPase|SPGF46|hdhc9	6p21.2	dynein axonemal heavy chain 8	The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012]
DNAI1	chr9	34457414	34520989	+	ENSG00000122735.15	protein_coding	CILD1|DIC1|ICS1|PCD	9p13.3	dynein axonemal intermediate chain 1	This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
DNAI4	chr1	 66812885	66924856	-	ENSG00000152763	protein-coding	DIC4|WDR78	1p31.3	dynein axonemal intermediate chain 4	-
DNAJA1	chr9	33025211	33039907	+	ENSG00000086061.15	protein_coding	DJ-2|DjA1|HDJ2|HSDJ|HSJ-2|HSJ2|HSPF4|NEDD7|hDJ-2	9p21.1	DnaJ heat shock protein family (Hsp40) member A1	This gene encodes a member of the DnaJ family of proteins, which act as heat shock protein 70 cochaperones. Heat shock proteins facilitate protein folding, trafficking, prevention of aggregation, and proteolytic degradation. Members of this family are characterized by a highly conserved N-terminal J domain, a glycine/phenylalanine-rich region, four CxxCxGxG zinc finger repeats, and a C-terminal substrate-binding domain. The J domain mediates the interaction with heat shock protein 70 to recruit substrates and regulate ATP hydrolysis activity. In humans, this gene has been implicated in positive regulation of virus replication through co-option by the influenza A virus. Several pseudogenes of this gene are found on other chromosomes. [provided by RefSeq, Sep 2015]
DNAJA2	chr16	46955362	46973788	-	ENSG00000069345.11	protein_coding	CPR3|DJ3|DJA2|DNAJ|DNJ3|HIRIP4|PRO3015|RDJ2	16q11.2	DnaJ heat shock protein family (Hsp40) member A2	The protein encoded by this gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain. The product of this gene works as a cochaperone of Hsp70s in protein folding and mitochondrial protein import in vitro. [provided by RefSeq, Jul 2008]
DNAJA3	chr16	4425805	4456775	+	ENSG00000103423.13	protein_coding	HCA57|TID1|hTID-1	16p13.3	DnaJ heat shock protein family (Hsp40) member A3	This gene encodes a member of the DNAJ/Hsp40 protein family. DNAJ/Hsp40 proteins stimulate the ATPase activity of Hsp70 chaperones and play critical roles in protein folding, degradation, and multimeric complex assembly. The encoded protein is localized to mitochondria and mediates several cellular processes including proliferation, survival and apoptotic signal transduction. The encoded protein also plays a critical role in tumor suppression through interactions with oncogenic proteins including ErbB2 and the p53 tumor suppressor protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
DNAJA4	chr15	78264086	78282196	+	ENSG00000140403.12	protein_coding	MST104|MSTP104|PRO1472	15q25.1	DnaJ heat shock protein family (Hsp40) member A4	Broad expression in heart (RPKM 43.9), testis (RPKM 33.4) and 23 other tissues
DNAJB1	chr19	14514770	14529770	-	ENSG00000132002.7	protein_coding	HSPF1|Hdj1|Hsp40|RSPH16B|Sis1	19p13.12	DnaJ heat shock protein family (Hsp40) member B1	This gene encodes a member of the DnaJ or Hsp40 (heat shock protein 40 kD) family of proteins. DNAJ family members are characterized by a highly conserved amino acid stretch called the J-domain and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. The encoded protein is a molecular chaperone that stimulates the ATPase activity of Hsp70 heat-shock proteins in order to promote protein folding and prevent misfolded protein aggregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
DNAJB11	chr3	186567403	186585800	+	ENSG00000090520.11	protein_coding	ABBP-2|ABBP2|DJ9|Dj-9|EDJ|ERdj3|ERj3|ERj3p|PKD6|PRO1080|UNQ537	3q27.3	DnaJ heat shock protein family (Hsp40) member B11	This gene encodes a soluble glycoprotein of the endoplasmic reticulum (ER) lumen that functions as a co-chaperone of binding immunoglobulin protein, a 70 kilodalton heat shock protein chaperone required for the proper folding and assembly of proteins in the ER. The encoded protein contains a highly conserved J domain of about 70 amino acids with a characteristic His-Pro-Asp (HPD) motif and may regulate the activity of binding immunoglobulin protein by stimulating ATPase activity. [provided by RefSeq, Mar 2014]
DNAJB12	chr10	72332830	72355230	-	ENSG00000148719.14	protein_coding	DJ10	10q22.1	DnaJ heat shock protein family (Hsp40) member B12	DNAJB12 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]
DNAJB13	chr11	73950319	73970366	+	ENSG00000187726.8	protein_coding	CILD34|RSPH16A|TSARG5|TSARG6	11q13.4	DnaJ heat shock protein family (Hsp40) member B13	This gene encodes a member of the heat shock protein 40 co-chaperone family which is produced in large amounts in the testis and is located on the radial spokes of the axoneme in human sperm flagella and other flagellar structures. The encoded protein associates with the sperm annulus, as part of the septin complex, through direct interaction with septin 4, during sperm terminal differentiation. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and male infertility. [provided by RefSeq, Apr 2017]
DNAJB14	chr4	99896248	99946726	-	ENSG00000164031.16	protein_coding	EGNR9427|PRO34683	4q23	DnaJ heat shock protein family (Hsp40) member B14	Ubiquitous expression in brain (RPKM 7.8), thyroid (RPKM 6.8) and 25 other tissues
DNAJB2	chr2	219279267	219286900	+	ENSG00000135924.15	protein_coding	CMT2T|DSMA5|HSJ-1|HSJ1|HSPF3	2q35	DnaJ heat shock protein family (Hsp40) member B2	This gene is almost exclusively expressed in the brain, mainly in the neuronal layers. It encodes a protein that shows sequence similarity to bacterial DnaJ protein and the yeast homologs. In bacteria, this protein is implicated in protein folding and protein complex dissociation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]
DNAJB4	chr1	77979175	78017964	+	ENSG00000162616.8	protein_coding	DNAJW|DjB4|HLJ1	1p31.1	DnaJ heat shock protein family (Hsp40) member B4	The protein encoded by this gene is a molecular chaperone, tumor suppressor, and member of the heat shock protein-40 family. The encoded protein binds the cell adhesion protein E-cadherin and targets it to the plasma membrane. This protein also binds incorrectly folded E-cadherin and targets it for endoplasmic reticulum-associated degradation. This gene is a strong tumor suppressor for colorectal carcinoma, and downregulation of it may serve as a good biomarker for predicting patient outcomes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
DNAJB5	chr9	34989641	34998900	+	ENSG00000137094.14	protein_coding	Hsc40	9p13.3	DnaJ heat shock protein family (Hsp40) member B5	This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins. The encoded protein contains an N-terminal DNAJ domain and a C-terminal substrate binding domain but lacks the cysteine-rich domain found in other DNAJ family members. In mice, a multi-protein complex containing this protein, thioredoxin 1, and histone deacetylase 4, serves as a master negative regulator of cardiac hypertrophy. [provided by RefSeq, Mar 2017]
DNAJB5-DT	chr9	 34985410	34989379	-	ENSG00000281491	ncRNA	DNAJB5-AS1	9p13.3	DNAJB5 divergent transcript	Low expression observed in reference dataset
DNAJB9	chr7	108569568	108574850	+	ENSG00000128590.4	protein_coding	ERdj4|MDG-1|MDG1|MST049|MSTP049	7q31.1|14q24.2-q24.3	DnaJ heat shock protein family (Hsp40) member B9	This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. This gene is a member of the type 2 subgroup of DnaJ proteins. The encoded protein is localized to the endoplasmic reticulum. This protein is induced by endoplasmic reticulum stress and plays a role in protecting stressed cells from apoptosis. [provided by RefSeq, Dec 2010]
DNAJC1	chr10	21756537	22003769	-	ENSG00000136770.10	protein_coding	DNAJL1|ERdj1|HTJ1|MTJ1	10p12.31	DnaJ heat shock protein family (Hsp40) member C1	The membrane protein encoded by this gene is a DNAJ-like heat shock protein that binds the molecular chaperone BiP. In addition, the encoded protein contains two SANT domains that have been shown to bind serpin alpha1-antichymotrypsin and inter-alpha trypsin inhibitor heavy chain 4. [provided by RefSeq, Jul 2016]
DNAJC10	chr2	182716041	182794464	+	ENSG00000077232.17	protein_coding	ERdj5|JPDI|MTHr|PDIA19	2q32.1	DnaJ heat shock protein family (Hsp40) member C10	This gene encodes an endoplasmic reticulum co-chaperone which is part of the endoplasmic reticulum-associated degradation complex involved in recognizing and degrading misfolded proteins. The encoded protein reduces incorrect disulfide bonds in misfolded glycoproteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
DNAJC11	chr1	6634168	6701924	-	ENSG00000007923.15	protein_coding	dJ126A5.1	1p36.31	DnaJ heat shock protein family (Hsp40) member C11	Ubiquitous expression in kidney (RPKM 23.0), colon (RPKM 15.3) and 25 other tissues
DNAJC12	chr10	67796665	67838166	-	ENSG00000108176.14	protein_coding	HPANBH4|JDP1	10q21.3	DnaJ heat shock protein family (Hsp40) member C12	This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
DNAJC13	chr3	132417526	132539032	+	ENSG00000138246.15	protein_coding	PARK21|RME8	3q22.1	DnaJ heat shock protein family (Hsp40) member C13	This gene encodes a member of the Dnaj protein family whose members act as co-chaperones of a partner heat-shock protein by binding to the latter and stimulating ATP hydrolysis. The encoded protein associates with the heat-shock protein Hsc70 and plays a role in clathrin-mediated endocytosis. It may also be involved in post-endocytic transport mechanisms via its associations with other proteins, including the sorting nexin SNX1. Mutations in this gene are associated with Parkinsons disease. [provided by RefSeq, Jun 2016]
DNAJC14	chr12	55820960	55830824	-	ENSG00000135392.15	protein_coding	DNAJ|DRIP78|HDJ3|LIP6	12q13.2	DnaJ heat shock protein family (Hsp40) member C14	Ubiquitous expression in testis (RPKM 16.8), thyroid (RPKM 12.6) and 25 other tissues
DNAJC16	chr1	15526813	15592379	+	ENSG00000116138.12	protein_coding	ERdj8	1p36.21	DnaJ heat shock protein family (Hsp40) member C16	Ubiquitous expression in kidney (RPKM 7.4), thyroid (RPKM 5.5) and 25 other tissues
DNAJC17	chr15	40765155	40807478	-	ENSG00000104129.9	protein_coding	-	15q15.1	DnaJ heat shock protein family (Hsp40) member C17	-
DNAJC18	chr5	139408588	139444491	-	ENSG00000170464.9	protein_coding	-	5q31.2	DnaJ heat shock protein family (Hsp40) member C18	-
DNAJC19	chr3	180983709	180989774	-	ENSG00000205981.6	protein_coding	PAM18|TIM14|TIMM14	3q26.33	DnaJ heat shock protein family (Hsp40) member C19	The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 2, 6, 10, 14 and 19. [provided by RefSeq, Jan 2012]
DNAJC19P5	chr2	177229191	177229506	-	ENSG00000225808.1	processed_pseudogene	-	2q31.2	DnaJ heat shock protein family (Hsp40) member C19 pseudogene 5	-
DNAJC2	chr7	103312474	103344873	-	ENSG00000105821.14	protein_coding	MPHOSPH11|MPP11|ZRF1|ZUO1	7q22.1	DnaJ heat shock protein family (Hsp40) member C2	This gene is a member of the M-phase phosphoprotein (MPP) family. The gene encodes a phosphoprotein with a J domain and a Myb DNA-binding domain which localizes to both the nucleus and the cytosol. The protein is capable of forming a heterodimeric complex that associates with ribosomes, acting as a molecular chaperone for nascent polypeptide chains as they exit the ribosome. This protein was identified as a leukemia-associated antigen and expression of the gene is upregulated in leukemic blasts. Also, chromosomal aberrations involving this gene are associated with primary head and neck squamous cell tumors. This gene has a pseudogene on chromosome 6. Alternatively spliced variants which encode different protein isoforms have been described. [provided by RefSeq, Jul 2008]
DNAJC21	chr5	34929593	34958964	+	ENSG00000168724.14	protein_coding	BMFS3|DNAJA5|GS3|JJJ1	5p13.2	DnaJ heat shock protein family (Hsp40) member C21	This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the precursor 45S ribosomal RNA and may be involved in early nuclear ribosomal RNA biogenesis and maturation of the 60S ribosomal subunit. Mutations in this gene result in Bone marrow failure syndrome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2017]
DNAJC22	chr12	49346917	49357546	+	ENSG00000178401.14	protein_coding	wus	12q13.12	DnaJ heat shock protein family (Hsp40) member C22	Biased expression in liver (RPKM 7.7), duodenum (RPKM 7.3) and 10 other tissues
DNAJC24	chr11	31369840	31431849	+	ENSG00000170946.14	protein_coding	DPH4|JJJ3|ZCSL3	11p13	DnaJ heat shock protein family (Hsp40) member C24	Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH4 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM, Mar 2008]
DNAJC25	chr9	111631352	111654351	+	ENSG00000059769.19	protein_coding	bA16L21.2.1	9q31.3	DnaJ heat shock protein family (Hsp40) member C25	Ubiquitous expression in liver (RPKM 12.9), adrenal (RPKM 7.6) and 24 other tissues
DNAJC27	chr2	24943636	24972094	-	ENSG00000115137.11	protein_coding	RBJ|RabJS	2p23.3	DnaJ heat shock protein family (Hsp40) member C27	Broad expression in testis (RPKM 15.3), brain (RPKM 3.5) and 22 other tissues
DNAJC27-AS1	chr2	24971390	25039694	+	ENSG00000224165.5	antisense	-	2p23.3	DNAJC27 antisense RNA 1	-
DNAJC28	chr21	33485530	33491720	-	ENSG00000177692.11	protein_coding	C21orf55|C21orf78	21q22.11	DnaJ heat shock protein family (Hsp40) member C28	This gene encodes a member of the DnaJ heat shock protein family. The encoded protein, which contains a conserved N-terminal DnaJ domain, is thought to play a role in protein folding or act as a molecular chaperone protein. [provided by RefSeq, Oct 2016]
DNAJC3	chr13	95677139	95794989	+	ENSG00000102580.14	protein_coding	ACPHD|ERdj6|HP58|P58|P58IPK|PRKRI|p58(IPK)	13q32.1	DnaJ heat shock protein family (Hsp40) member C3	This gene encodes a protein with multiple tetratricopeptide repeat (TPR) motifs as well as the highly conserved J domain found in DNAJ chaperone family members. It is a member of the tetratricopeptide repeat family of proteins and acts as an inhibitor of the interferon-induced, dsRNA-activated protein kinase (PKR). [provided by RefSeq, Jul 2010]
DNAJC3-DT	chr13	 95672835	95676925	-	ENSG00000247400	ncRNA	DNAJC3-AS1	13q32.1	DNAJC3 divergent transcript	Broad expression in thyroid (RPKM 4.8), testis (RPKM 2.7) and 24 other tissues
DNAJC30	chr7	73680969	73683453	-	ENSG00000176410.7	protein_coding	LHONAR|MC1DN38|WBSCR18	7q11.23	DnaJ heat shock protein family (Hsp40) member C30	This intronless gene encodes a member of the DNAJ molecular chaperone homology domain-containing protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provided by RefSeq, Jul 2008]
DNAJC4	chr11	64230278	64234286	+	ENSG00000110011.13	protein_coding	DANJC4|HSPF2|MCG18	11q13.1	DnaJ heat shock protein family (Hsp40) member C4	Broad expression in testis (RPKM 43.6), spleen (RPKM 17.2) and 25 other tissues
DNAJC5	chr20	63895182	63936031	+	ENSG00000101152.10	protein_coding	CLN4|CLN4B|CSP|DNAJC5A|NCL|mir-941-2|mir-941-3|mir-941-4|mir-941-5	20q13.33	DnaJ heat shock protein family (Hsp40) member C5	This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding, and has been shown to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntingtons disease. A pseudogene of this gene is located on the short arm of chromosome 8. [provided by RefSeq, Nov 2010]
DNAJC5B	chr8	66021560	66100526	+	ENSG00000147570.9	protein_coding	CSP-beta	8q13.1	DnaJ heat shock protein family (Hsp40) member C5 beta	This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins that is characterized by an N-terminal DNAJ domain, a linker region, and a cysteine-rich C-terminal domain. The encoded protein, together with heat shock protein 70, is thought to regulate the proper folding of other proteins. The orthologous mouse protein is membrane-associated and is targeted to the trans-golgi network. [provided by RefSeq, Mar 2017]
DNAJC5G	chr2	27275421	27281499	+	ENSG00000163793.12	protein_coding	CSP-gamma	2p23.3	DnaJ heat shock protein family (Hsp40) member C5 gamma	Restricted expression toward testis (RPKM 12.4)
DNAJC6	chr1	65248219	65415869	+	ENSG00000116675.15	protein_coding	DJC6|PARK19	1p31.3	DnaJ heat shock protein family (Hsp40) member C6	DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]
DNAJC7	chr17	41976433	42021376	-	ENSG00000168259.14	protein_coding	DJ11|DJC7|TPR2|TTC2	17q21.2	DnaJ heat shock protein family (Hsp40) member C7	This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the chaperone proteins heat shock proteins 70 and 90 in an ATP-dependent manner and may function as a co-chaperone. Pseudogenes of this gene are found on chromosomes 1 and 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
DNAJC8	chr1	28199456	28233025	-	ENSG00000126698.10	protein_coding	HSPC331|SPF31	1p35.3	DnaJ heat shock protein family (Hsp40) member C8	Ubiquitous expression in lymph node (RPKM 41.4), endometrium (RPKM 36.7) and 25 other tissues
DNAJC9	chr10	73183362	73248862	-	ENSG00000213551.4	protein_coding	HDJC9|JDD1|SB73	10q22.2	DnaJ heat shock protein family (Hsp40) member C9	Ubiquitous expression in bone marrow (RPKM 34.5), lymph node (RPKM 15.2) and 24 other tissues
DNAL1	chr14	73644875	73703732	+	ENSG00000119661.14	protein_coding	C14orf168|CILD16|LC1	14q24.3	dynein axonemal light chain 1	This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]
DNAL4	chr22	38778508	38794198	-	ENSG00000100246.12	protein_coding	MRMV3|PIG27	22q13.1	dynein axonemal light chain 4	This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. [provided by RefSeq, Dec 2014]
DNALI1	chr1	37556919	37566857	+	ENSG00000163879.10	protein_coding	P28|dJ423B22.5|hp28	1p34.3	dynein axonemal light intermediate chain 1	This gene is the human homolog of the Chlamydomonas inner dynein arm gene, p28. The precise function of this gene is not known, however, it is a potential candidate for immotile cilia syndrome (ICS). Ultrastructural defects of the inner dynein arms are seen in patients with ICS. Immotile mutant strains of Chlamydomonas, a biflagellated algae, exhibit similar defects. [provided by RefSeq, Jul 2008]
DNASE1	chr16	3611728	3680143	+	ENSG00000213918.10	protein_coding	DNL1|DRNI	16p13.3	deoxyribonuclease 1	This gene encodes a member of the DNase family. This protein is stored in the zymogen granules of the nuclear envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosomal codominant alleles have been characterized, DNASE1*1 through DNASE1*6, and the sequence of DNASE1*2 represented in this record. Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease. A recombinant form of this protein is used to treat the one of the symptoms of cystic fibrosis by hydrolyzing the extracellular DNA in sputum and reducing its viscosity. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
DNASE1L1	chrX	154401238	154412112	-	ENSG00000013563.13	protein_coding	DNAS1L1|DNASEX|DNL1L|G4.8|XIB	Xq28	deoxyribonuclease 1 like 1	This gene encodes a deoxyribonuclease protein that shows high sequence similarity to DNase I. The encoded protein is localized to the endoplasmic reticulum and modified by N-linked glycosylation. Alternate transcriptional splice variants encoding the same protein have been observed. [provided by RefSeq, Jan 2015]
DNASE1L2	chr16	2235816	2238711	+	ENSG00000167968.12	protein_coding	DNAS1L2	16p13.3	deoxyribonuclease 1 like 2	Broad expression in skin (RPKM 3.2), brain (RPKM 0.6) and 14 other tissues
DNASE1L3	chr3	58192257	58214697	-	ENSG00000163687.13	protein_coding	DHP2|DNAS1L3|LSD|SLEB16	3p14.3	deoxyribonuclease 1 like 3	This gene encodes a member of the deoxyribonuclease I family. The encoded protein hydrolyzes DNA, is not inhibited by actin, and mediates the breakdown of DNA during apoptosis. Mutations in this gene are a cause of systemic lupus erythematosus-16. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
DNASE2	chr19	12875211	12881468	-	ENSG00000105612.8	protein_coding	DNASE2A|DNL|DNL2	19p13.13	deoxyribonuclease 2, lysosomal	This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record. [provided by RefSeq, Jul 2008]
DND1	chr5	140670794	140673586	-	ENSG00000256453.1	protein_coding	RBMS4	5q31.3	DND microRNA-mediated repression inhibitor 1	This gene encodes a protein that binds to microRNA-targeting sequences of mRNAs, inhibiting microRNA-mediated repression. Reduced expression of this gene has been implicated in tongue squamous cell carcinoma. Two pseudogenes of this gene are located on the long arm of chromosome 17. [provided by RefSeq, Dec 2010]
DND1P1	chr17	45585871	45586929	+	ENSG00000264070.1	processed_pseudogene	-	17q21.31	DND microRNA-mediated repression inhibitor 1 pseudogene 1	-
DNER	chr2	229357629	229714558	-	ENSG00000187957.7	protein_coding	UNQ26|bet	2q36.3	delta/notch like EGF repeat containing	Biased expression in brain (RPKM 69.6), adrenal (RPKM 34.4) and 2 other tissues
DNHD1	chr11	6497260	6593758	+	ENSG00000179532.12	protein_coding	C11orf47|CCDC35|DHCD1|DNHD1L	11p15.4	dynein heavy chain domain 1	Broad expression in testis (RPKM 7.9), spleen (RPKM 1.7) and 18 other tissues
DNLZ	chr9	136359480	136363789	-	ENSG00000213221.4	protein_coding	C9orf151|HEP|HEP1|TIMM15|ZIM17|bA413M3.2	9q34.3	DNL-type zinc finger	Ubiquitous expression in kidney (RPKM 6.4), spleen (RPKM 4.8) and 25 other tissues
DNM1	chr9	128191655	128255248	+	ENSG00000106976.20	protein_coding	DEE31|DNM|EIEE31	9q34.11	dynamin 1	This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3 region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
DNM1L	chr12	32679200	32745650	+	ENSG00000087470.17	protein_coding	DLP1|DRP1|DVLP|DYMPLE|EMPF|EMPF1|HDYNIV|OPA5	12p11.21	dynamin 1 like	This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated in several neurological disorders, including Alzheimers disease. Mutations in this gene are associated with the autosomal dominant disorder, encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
DNM1P35	chr15	75727670	75738623	-	ENSG00000246877.1	antisense	DNM1DN8-2|DNM1DN8.2|DNM1DN8@|FKSG88	15q24.2	dynamin 1 pseudogene 35	-
DNM1P41	chr15	84166547	84169896	-	ENSG00000280038.1	TEC	DNM1DN11-6|DNM1DN11.6|DNM1DN11@	15q25.2	dynamin 1 pseudogene 41	-
DNM1P46	chr15	99790156	99806927	-	ENSG00000182397.14	transcribed_unprocessed_pseudogene	C15orf51|DNM1DN14.2|DNM1DN14@	15q26.3	dynamin 1 pseudogene 46	Biased expression in testis (RPKM 6.5) and fat (RPKM 0.3)
DNM1P47	chr15	101751032	101794302	+	ENSG00000259660.2	transcribed_unprocessed_pseudogene	DNM1DN14-3|DNM1DN14@	15q26.3	dynamin 1 pseudogene 47	-
DNM1P51	chr15	84398316	84411701	-	ENSG00000235370.6	transcribed_unprocessed_pseudogene	-	15q25.2	dynamin 1 pseudogene 51	-
DNM2	chr19	10718079	10833488	+	ENSG00000079805.16	protein_coding	CMT2M|CMTDI1|CMTDIB|DI-CMTB|DYN2|DYNII|LCCS5	19p13.2	dynamin 2	Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]
DNM3	chr1	171841498	172418466	+	ENSG00000197959.13	protein_coding	Dyna III	1q24.3	dynamin 3	This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
DNM3OS	chr1	172136531	172144794	-	ENSG00000230630.4	antisense	DNM3-AS1|MIR199A2HG	1q24.3	DNM3 opposite strand/antisense RNA	Predicted to act upstream of or within bone mineralization and skeletal system development. [provided by Alliance of Genome Resources, Apr 2022]
DNMBP	chr10	99875577	100009919	-	ENSG00000107554.16	protein_coding	ARHGEF36|CTRCT48|TUBA	10q24.2	dynamin binding protein	This gene encodes a protein belonging to the guanine nucleotide exchange factor family, and which regulates the configuration of cell junctions. It contains multiple binding sites for dynamin and thus links dynamin to actin regulatory proteins. Polymorphisms in this gene have been linked to Alzheimers disease in some populations, though there are conflicting reports of such linkages in other populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
DNMBP-AS1	chr10	99927010	99958381	+	ENSG00000227695.5	antisense	NCRNA00093	10q24.2	DNMBP antisense RNA 1	Ubiquitous expression in skin (RPKM 3.0), endometrium (RPKM 2.9) and 25 other tissues
DNMT1	chr19	10133345	10231286	-	ENSG00000130816.14	protein_coding	ADCADN|AIM|CXXC9|DNMT|HSN1E|MCMT|m.HsaI	19p13.2	DNA methyltransferase 1	This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
DNMT3A	chr2	25227855	25342590	-	ENSG00000119772.16	protein_coding	DNMT3A2|HESJAS|M.HsaIIIA|TBRS	2p23.3	DNA methyltransferase 3 alpha	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. [provided by RefSeq, Mar 2016]
DNMT3B	chr20	32762385	32809356	+	ENSG00000088305.18	protein_coding	FSHD4|ICF|ICF1|M.HsaIIIB	20q11.21	DNA methyltransferase 3 beta	CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]
DNPEP	chr2	219373546	219400022	-	ENSG00000123992.18	protein_coding	ASPEP|DAP	2q35	aspartyl aminopeptidase	The protein encoded by this gene is an aminopeptidase which prefers acidic amino acids, and specifically favors aspartic acid over glutamic acid. It is thought to be a cytosolic protein involved in general metabolism of intracellular proteins. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
DNPH1	chr6	43225629	43229484	-	ENSG00000112667.12	protein_coding	C6orf108|RCL|dJ330M21.3	6p21.1	2'-deoxynucleoside 5'-phosphate N-hydrolase 1	This gene was identified on the basis of its stimulation by c-Myc protein. The latter is a transcription factor that participates in the regulation of cell proliferation, differentiation, and apoptosis. The exact function of this gene is not known but studies in rat suggest a role in cellular proliferation and c-Myc-mediated transformation. Two alternative transcripts encoding different proteins have been described. [provided by RefSeq, Jul 2008]
DNTTIP1	chr20	45791937	45811427	+	ENSG00000101457.12	protein_coding	C20orf167|Tdif1|dJ447F3.4	20q13.12	deoxynucleotidyltransferase terminal interacting protein 1	DNTTIP1 binds DNA and enhances the activity of terminal deoxynucleotidyltransferase (TDT, or DNTT; MIM 187410), a DNA polymerase that catalyzes the polymerization of DNA in the absence of a DNA template (Yamashita et al., 2001 [PubMed 11473582]).[supplied by OMIM, Mar 2008]
DNTTIP2	chr1	93866283	93879918	-	ENSG00000067334.13	protein_coding	ERBP|FCF2|HSU15552|LPTS-RP2|TdIF2	1p22.1	deoxynucleotidyltransferase terminal interacting protein 2	This gene is thought to be involved in chromatin remodeling and gene transcription. The encoded nuclear protein binds to and enhances the transcriptional activity of the estrogen receptor alpha, and also interacts with terminal deoxynucleotidyltransferase. The expression profile of this gene is a potential biomarker for chronic obstructive pulmonary disease. [provided by RefSeq, Dec 2010]
DOC2A	chr16	30005509	30023270	-	ENSG00000149927.17	protein_coding	Doc2	16p11.2	double C2 domain alpha	There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains. DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2A is mainly expressed in brain and is suggested to be involved in Ca(2+)-dependent neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
DOC2B	chr17	142789	181636	-	ENSG00000272636.3	protein_coding	DOC2BL	17p13.3	double C2 domain beta	There are at least two protein isoforms of the Double C2 protein,  namely alpha (DOC2A) and beta (DOC2B), which contain two C2-like domains.  DOC2A and DOC2B are encoded by different genes; these genes are at times confused with the unrelated DAB2 gene which was initially named DOC-2. DOC2B is expressed ubiquitously and is suggested to be involved in Ca(2+)-dependent intracellular vesicle trafficking in various types of cells. [provided by RefSeq, Jul 2008]
DOC2GP	chr11	67612651	67616257	-	ENSG00000231793.5	transcribed_unitary_pseudogene	-	11q13.2	double C2 domain gamma, pseudogene	Low expression observed in reference dataset
DOCK1	chr10	126905409	127452517	+	ENSG00000150760.12	protein_coding	DOCK180|ced5	10q26.2	dedicator of cytokinesis 1	This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
DOCK10	chr2	224765090	225042445	-	ENSG00000135905.18	protein_coding	DRIP2|Nbla10300|ZIZ3	2q36.2	dedicator of cytokinesis 10	This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family are guanosine nucleotide exchange factors for Rho GTPases and defined by the presence of conserved DOCK-homology regions. The encoded protein belongs to the D (or Zizimin) subfamily of DOCK proteins, which also contain an N-terminal pleckstrin homology domain. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2014]
DOCK11	chrX	118495898	118686163	+	ENSG00000147251.15	protein_coding	ACG|ZIZ2|bB128O4.1	Xq24	dedicator of cytokinesis 11	Broad expression in fat (RPKM 20.0), lymph node (RPKM 11.7) and 19 other tissues
DOCK2	chr5	169637247	170083382	+	ENSG00000134516.15	protein_coding	IMD40	5q35.1	dedicator of cytokinesis 2	The protein encoded by this gene belongs to the CDM protein family. It is specifically expressed in hematopoietic cells and is predominantly expressed in peripheral blood leukocytes. The protein is involved in remodeling of the actin cytoskeleton required for lymphocyte migration in response to chemokine signaling. It activates members of the Rho family of GTPases, for example RAC1 and RAC2, by acting as a guanine nucleotide exchange factor (GEF) to exchange bound GDP for free GTP. Mutations in this gene result in immunodeficiency 40 (IMD40), a combined form of immunodeficiency that affects T cell number and function, also with variable defects in B cell and NK cell function. [provided by RefSeq, May 2018]
DOCK3	chr3	50675241	51384198	+	ENSG00000088538.12	protein_coding	MOCA|NEDIDHA|PBP	3p21.2	dedicator of cytokinesis 3	This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK (dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, dedicator of cytokinesis 3 (DOCK3), is also known as modifier of cell adhesion (MOCA) and presenilin-binding protein (PBP). The DOCK3 and DOCK1, -2 and -4 share several conserved amino acids in their DHR-2 (DOCK homology region 2) domains that are required for GEF activity, and bind directly to WAVE proteins [Wiskott-Aldrich syndrome protein (WASP) family Verprolin-homologous proteins] via their DHR-1 domains. The DOCK3 induces axonal outgrowth in CNS by stimulating membrane recruitment of the WAVE complex and activating the small G protein Rac1. This gene is associated with an attention deficit hyperactivity disorder-like phenotype by a complex chromosomal rearrangement. [provided by RefSeq, Aug 2010]
DOCK4	chr7	111726110	112206411	-	ENSG00000128512.20	protein_coding	-	7q31.1	dedicator of cytokinesis 4	Broad expression in lung (RPKM 9.6), brain (RPKM 9.0) and 23 other tissues
DOCK5	chr8	25184723	25418082	+	ENSG00000147459.17	protein_coding	-	8p21.2	dedicator of cytokinesis 5	Ubiquitous expression in spleen (RPKM 6.2), small intestine (RPKM 5.7) and 25 other tissues
DOCK6	chr19	11199295	11262481	-	ENSG00000130158.13	protein_coding	AOS2|ZIR1	19p13.2	dedicator of cytokinesis 6	This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011]
DOCK7	chr1	62454298	62688368	-	ENSG00000116641.17	protein_coding	DEE23|EIEE23|ZIR2	1p31.3	dedicator of cytokinesis 7	The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
DOCK8	chr9	214854	465259	+	ENSG00000107099.15	protein_coding	HEL-205|MRD2|ZIR8	9p24.3	dedicator of cytokinesis 8	This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]
DOCK8-AS1	chr9	 213457	215750	-	ENSG00000183784	ncRNA	C9orf66	9p24.3	DOCK8 antisense RNA 1	-
DOCK9	chr13	98793429	99086625	-	ENSG00000088387.18	protein_coding	ZIZ1|ZIZIMIN1	13q32.3	dedicator of cytokinesis 9	Ubiquitous expression in placenta (RPKM 21.7), thyroid (RPKM 20.1) and 23 other tissues
DOCK9-DT	chr13	 99086723	99088625	+	-	ncRNA	DOCK9-AS2	13q32.3	DOCK9 divergent transcript	-
DOHH	chr19	3490821	3500940	-	ENSG00000129932.7	protein_coding	HLRC1|hDOHH	19p13.3	deoxyhypusine hydroxylase	This gene encodes a metalloenzyme that catalyzes the last step in the conversion of lysine to the unique amino acid hypusine in eukaryotic initiation factor 5A. The encoded protein hydroxylates deoxyhypusine to form hypusine in the mature eukaryotic initiation factor 5A protein. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]
DOK2	chr8	21908873	21913860	-	ENSG00000147443.12	protein_coding	p56DOK|p56dok-2	8p21.3	docking protein 2	The protein encoded by this gene is constitutively tyrosine phosphorylated in hematopoietic progenitors isolated from chronic myelogenous leukemia (CML) patients in the chronic phase. It may be a critical substrate for p210(bcr/abl), a chimeric protein whose presence is associated with CML. This encoded protein binds p120 (RasGAP) from CML cells. [provided by RefSeq, Jul 2008]
DOK3	chr5	177501907	177511274	-	ENSG00000146094.13	protein_coding	DOKL	5q35.3	docking protein 3	Biased expression in bone marrow (RPKM 31.4), spleen (RPKM 15.5) and 11 other tissues
DOK4	chr16	57471922	57487327	-	ENSG00000125170.10	protein_coding	IRS-5|IRS5	16q21	docking protein 4	Ubiquitous expression in colon (RPKM 23.2), small intestine (RPKM 21.5) and 25 other tissues
DOK5	chr20	54475597	54651171	+	ENSG00000101134.11	protein_coding	C20orf180|IRS-6|IRS6	20q13.2	docking protein 5	The protein encoded by this gene is a member of the DOK family of membrane proteins, which are adapter proteins involved in signal transduction. The encoded protein interacts with phosphorylated receptor tyrosine kinases to mediate neurite outgrowth and activation of the MAP kinase pathway. Unlike other DOK family proteins, this protein does not interact with RASGAP. This protein is up-regulated in patients with systemic sclerosis and is associated with fibrosis induced by insulin-like growth factor binding protein 5. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2014]
DOK6	chr18	69401055	69849087	+	ENSG00000206052.10	protein_coding	DOK5L|HsT3226	18q22.2	docking protein 6	DOK6 is a member of the DOK (see DOK1; MIM 602919) family of intracellular adaptors that play a role in the RET (MIM 164761) signaling cascade (Crowder et al., 2004 [PubMed 15286081]).[supplied by OMIM, Mar 2008]
DOK7	chr4	3463311	3494483	+	ENSG00000175920.16	protein_coding	C4orf25|CMS10|CMS1B|FADS3	4p16.3	docking protein 7	The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
DOLK	chr9	128945530	128947619	-	ENSG00000175283.7	protein_coding	CDG1M|DK|DK1|SEC59|TMEM15	9q34.11	dolichol kinase	The protein encoded by this gene catalyzes the CTP-mediated phosphorylation of dolichol, and is involved in the synthesis of Dol-P-Man, which is an essential glycosyl carrier lipid for C- and O-mannosylation, N- and O-linked glycosylation of proteins, and for the biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum. Mutations in this gene are associated with dolichol kinase deficiency.[provided by RefSeq, Apr 2010]
DOLPP1	chr9	129081100	129090438	+	ENSG00000167130.17	protein_coding	LSFR2	9q34.11	dolichyldiphosphatase 1	A similar gene has been characterized in mice and encodes dolichyl pyrophosphate (Dol-P-P) phosphatase. This protein dephosphorylates dolichyl pyrophosphate so that it may be re-utilized as a glycosyl carrier lipid by the oligosaccharyltransferase multisubunit complex in the ER. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]
DONSON	chr21	33559542	33588708	-	ENSG00000159147.17	protein_coding	B17|C21orf60|MIMIS|MISSLA	21q22.11	DNA replication fork stabilization factor DONSON	This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [provided by RefSeq, Jul 2008]
DOP1A	chr6	 83067671	83171350	+	ENSG00000083097	protein-coding	DOP1|DOPEY1|KIAA1117|dJ202D23.2	6q14.1	DOP1 leucine zipper like protein A	Ubiquitous expression in testis (RPKM 7.6), thyroid (RPKM 6.7) and 25 other tissues
DOP1B	chr21	 36156824	36294274	+	ENSG00000142197	protein-coding	21orf5|C21orf5|DOPEY2	21q22.12	DOP1 leucine zipper like protein B	Ubiquitous expression in colon (RPKM 9.1), bone marrow (RPKM 8.2) and 25 other tissues
DOT1L	chr19	2164149	2232578	+	ENSG00000104885.17	protein_coding	DOT1|KMT4	19p13.3	DOT1 like histone lysine methyltransferase	The protein encoded by this gene is a histone methyltransferase that methylates lysine-79 of histone H3. It is inactive against free core histones, but shows significant histone methyltransferase activity against nucleosomes. [provided by RefSeq, Aug 2011]
DPAGT1	chr11	119096503	119108331	-	ENSG00000172269.18	protein_coding	ALG7|CDG-Ij|CDG1J|CMS13|CMSTA2|D11S366|DGPT|DPAGT|DPAGT2|G1PT|GPT|UAGT|UGAT	11q23.3	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]
DPCD	chr10	101570560	101609668	+	ENSG00000166171.12	protein_coding	-	10q24.32	deleted in primary ciliary dyskinesia homolog (mouse)	Broad expression in testis (RPKM 51.1), kidney (RPKM 13.2) and 19 other tissues
DPEP1	chr16	89613308	89638456	+	ENSG00000015413.9	protein_coding	MBD1|MDP|RDP	16q24.3	dipeptidase 1	The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. [provided by RefSeq, Dec 2020]
DPEP2	chr16	67987394	68000586	-	ENSG00000167261.13	protein_coding	MBD2	16q22.1	dipeptidase 2	DPEP2 belongs to the membrane-bound dipeptidase (EC 3.4.13.19) family. These enzymes hydrolyze a variety of dipeptides, including leukotriene D4, the beta-lactam ring of some antibiotics, and cystinyl-bis-glycine (cys-bis-gly) formed during glutathione degradation (Habib et al., 2003 [PubMed 12738806]).[supplied by OMIM, Mar 2008]
DPEP3	chr16	67975663	67980829	-	ENSG00000141096.4	protein_coding	MBD3	16q22.1	dipeptidase 3	This gene encodes a membrane-bound glycoprotein from the family of dipeptidases involved in hydrolytic metabolism of various dipeptides, including penem and carbapenem beta-lactam antibiotics. This gene is located on chromosome 16 in a cluster with another member of this family. Alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
DPF1	chr19	38211006	38229714	-	ENSG00000011332.19	protein_coding	BAF45b|NEUD4|SMARCG1|neuro-d4	19q13.2	double PHD fingers 1	Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription, DNA-templated; nervous system development; and positive regulation of transcription by RNA polymerase II. Predicted to be located in cytoplasm. Predicted to be part of nBAF complex. [provided by Alliance of Genome Resources, Apr 2022]
DPF2	chr11	65333754	65353249	+	ENSG00000133884.9	protein_coding	CSS7|REQ|SMARCG2|UBID4|ubi-d4	11q13.1	double PHD fingers 2	The protein encoded by this gene is a member of the d4 domain family, characterized by a zinc finger-like structural motif. This protein functions as a transcription factor which is necessary for the apoptotic response following deprivation of survival factors. It likely serves a regulatory role in rapid hematopoietic cell growth and turnover. This gene is considered a candidate gene for multiple endocrine neoplasia type I, an inherited cancer syndrome involving multiple parathyroid, enteropancreatic, and pituitary tumors. [provided by RefSeq, Jul 2008]
DPF3	chr14	72619296	72894116	-	ENSG00000205683.11	protein_coding	BAF45C|CERD4|SMARCG3	14q24.2	double PHD fingers 3	This gene encodes a member of the D4 protein family. The encoded protein is a transcription regulator that binds acetylated histones and is a component of the BAF chromatin remodeling complex. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
DPH1	chr17	2030110	2043430	+	ENSG00000108963.17	protein_coding	DEDSSH|DPH2L|DPH2L1|OVCA1	17p13.3	diphthamide biosynthesis 1	The protein encoded by this gene is an enzyme involved in the biosynthesis of diphthamide, a modified histidine found only in elongation factor-2 (EEF2). Diphthamide residues in EEF2 are targeted for ADP-ribosylation by diphtheria toxin and Pseudomonas exotoxin A. Defects in this gene have been associated with both ovarian cancer and autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. [provided by RefSeq, Oct 2016]
DPH2	chr1	43970000	43973369	+	ENSG00000132768.13	protein_coding	DPH2L2	1p34.1	diphthamide biosynthesis 2	This gene is one of two human genes similar to the yeast gene dph2. The yeast gene was identified by its ability to complement a diphthamide mutant strain, and thus probably functions in diphthamide biosynthesis. Diphthamide is a post-translationally modified histidine residue present in elongation factor 2 (EF2) that is the target of diphtheria toxin ADP-ribosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
DPH3	chr3	16257978	16264972	-	ENSG00000154813.9	protein_coding	DELGIP|DELGIP1|DESR1|DPH3A|KTI11|ZCSL2	3p25.1	diphthamide biosynthesis 3	This gene encodes a CSL zinc finger-containing protein that is required for dipthamide biosynthesis. The encoded protein is necessary for the initial step in the modification of a histidine residue in elongation factor-2 to diphthamide. This modified residue is a target for ADP ribosylation by the bacterial toxins diphtheria toxin and Pseudomonas exotoxin A. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq, Feb 2009]
DPH6	chr15	35217345	35546193	-	ENSG00000134146.11	protein_coding	ATPBD4	15q14	diphthamine biosynthesis 6	Ubiquitous expression in thyroid (RPKM 1.3), ovary (RPKM 0.9) and 25 other tissues
DPH6-DT	chr15	 35546195	35859001	+	-	ncRNA	ATPBD4-AS1|DPH6-AS1	15q14	DPH6 divergent transcript	-
DPH7	chr9	137554904	137578935	-	ENSG00000148399.12	protein_coding	C9orf112|RRT2|WDR85	9q34.3	diphthamide biosynthesis 7	Diphthamide is a post-translationally modified histidine residue present in elongation factor 2, and is the target of diphtheria toxin. This gene encodes a protein that contains a WD-40 domain, and is thought to be involved in diphthamide biosynthesis. A similar protein in yeast functions as a methylesterase, converting methylated diphthine to diphthine, which can then undergo amidation to produce diphthamide. [provided by RefSeq, Oct 2016]
DPM1	chr20	50934867	50958555	-	ENSG00000000419.12	protein_coding	CDGIE|MPDS	20q13.13	dolichyl-phosphate mannosyltransferase subunit 1, catalytic	Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. Human DPM1 lacks a carboxy-terminal transmembrane domain and signal sequence and is regulated by DPM2. Mutations in this gene are associated with congenital disorder of glycosylation type Ie. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
DPM2	chr9	127935099	127938484	-	ENSG00000136908.17	protein_coding	CDG1U	9q34.11	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1. [provided by RefSeq, Jul 2008]
DPM3	chr1	155139891	155140595	-	ENSG00000179085.7	protein_coding	CDG1O|MDDGB15|MDDGC15	1q22	dolichyl-phosphate mannosyltransferase subunit 3, regulatory	Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex. [provided by RefSeq, Jul 2008]
DPP3	chr11	66480013	66509657	+	ENSG00000254986.7	protein_coding	DPPIII	11q13.2	dipeptidyl peptidase 3	This gene encodes a protein that is a member of the M49 family of metallopeptidases. This cytoplasmic protein binds a single zinc ion with its zinc-binding motif (HELLGH) and has post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Increased activity of this protein is associated with endometrial and ovarian cancers. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2012]
DPP4	chr2	161992241	162074542	-	ENSG00000197635.9	protein_coding	ADABP|ADCP2|CD26|DPPIV|TP103	2q24.2	dipeptidyl peptidase 4	The DPP4 gene encodes dipeptidyl peptidase 4, which is identical to adenosine deaminase complexing protein-2, and to the T-cell activation antigen CD26. It is an intrinsic type II transmembrane glycoprotein and a serine exopeptidase that cleaves X-proline dipeptides from the N-terminus of polypeptides. Dipeptidyl peptidase 4 is highly involved in glucose and insulin metabolism, as well as in immune regulation. This protein was shown to be a functional receptor for Middle East respiratory syndrome coronavirus (MERS-CoV), and protein modeling suggests that it may play a similar role with SARS-CoV-2, the virus responsible for COVID-19. [provided by RefSeq, Apr 2020]
DPP7	chr9	137110542	137115177	-	ENSG00000176978.13	protein_coding	DPP2|DPPII|QPP	9q34.3	dipeptidyl peptidase 7	The protein encoded by this gene is a post-proline cleaving aminopeptidase expressed in quiescent lymphocytes. The resting lymphocytes are maintained through suppression of apoptosis, a state which is disrupted by inhibition of this novel serine protease. The enzyme has strong sequence homology with prolylcarboxypeptidase and is active at both acidic and neutral pH. [provided by RefSeq, Jul 2008]
DPP8	chr15	65442463	65517704	-	ENSG00000074603.18	protein_coding	DP8|DPRP-1|DPRP1|MST097|MSTP097|MSTP135|MSTP141	15q22.31	dipeptidyl peptidase 8	This gene encodes a member of the peptidase S9B family, a small family of dipeptidyl peptidases that are able to cleave peptide substrates at a prolyl bond. The encoded protein shares similarity with dipeptidyl peptidase IV in that it is ubiquitously expressed, and hydrolyzes the same substrates. These similarities suggest that, like dipeptidyl peptidase IV, this protein may play a role in T-cell activation and immune function. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
DPP9	chr19	4675224	4724673	-	ENSG00000142002.16	protein_coding	DP9|DPLP9|DPP IX|DPRP-2|DPRP2	19p13.3	dipeptidyl peptidase 9	This gene encodes a protein that is a member of the S9B family in clan SC of the serine proteases. The protein has been shown to have post-proline dipeptidyl aminopeptidase activity, cleaving Xaa-Pro dipeptides from the N-termini of proteins. Although the activity of this protein is similar to that of dipeptidyl peptidase 4 (DPP4), it does not appear to be membrane bound. In general, dipeptidyl peptidases appear to be involved in the regulation of the activity of their substrates and have been linked to a variety of diseases including type 2 diabetes, obesity and cancer. Several transcript variants of this gene have been described but not fully characterized. [provided by RefSeq, Jul 2008]
DPPA2P2	chr1	26519354	26520250	-	ENSG00000224129.1	processed_pseudogene	-	1p36.11	developmental pluripotency associated 2 pseudogene 2	-
DPPA2P4	chr16	56686851	56688052	+	ENSG00000261429.2	processed_pseudogene	-	16q13	developmental pluripotency associated 2 pseudogene 4	-
DPRXP2	chr6	35989515	35990436	-	ENSG00000271304.1	processed_pseudogene	-	6p21.31	divergent-paired related homeobox pseudogene 2	-
DPRXP3	chr14	35222174	35222746	+	ENSG00000282308.1	processed_pseudogene	-	14q13.2	divergent-paired related homeobox pseudogene 3	-
DPRXP5	chr21	36943267	36944125	+	ENSG00000270652.1	processed_pseudogene	-	21q22.13	divergent-paired related homeobox pseudogene 5	-
DPT	chr1	168695459	168729264	-	ENSG00000143196.4	protein_coding	TRAMP	1q24.2	dermatopontin	Dermatopontin is an extracellular matrix protein with possible functions in cell-matrix interactions and matrix assembly. The protein is found in various tissues and many of its tyrosine residues are sulphated. Dermatopontin is postulated to modify the behavior of TGF-beta through interaction with decorin. [provided by RefSeq, Jul 2008]
DPY19L1	chr7	34928876	35038271	-	ENSG00000173852.14	protein_coding	-	7p14.2	dpy-19 like C-mannosyltransferase 1	-
DPY19L1P1	chr7	32580949	32761787	-	ENSG00000229358.3	unprocessed_pseudogene	-	7p14.3	DPY19L1 pseudogene 1	-
DPY19L1P2	chr7	32812757	32838570	+	ENSG00000231952.3	unprocessed_pseudogene	THC1072510	7p14.3	DPY19L1 pseudogene 2	Broad expression in testis (RPKM 3.5), brain (RPKM 2.6) and 25 other tissues
DPY19L2	chr12	63558913	63668939	-	ENSG00000177990.11	protein_coding	SPATA34|SPGF9	12q14.2	dpy-19 like 2	The protein encoded by this gene belongs to the dpy-19 family. It is highly expressed in testis, and is required for sperm head elongation and acrosome formation during spermatogenesis. Mutations in this gene are associated with an infertility disorder, spermatogenic failure type 9 (SPGF9). [provided by RefSeq, Dec 2011]
DPY19L2P1	chr7	35079989	35186041	-	ENSG00000189212.12	transcribed_unprocessed_pseudogene	-	7p14.2	DPY19L2 pseudogene 1	Biased expression in testis (RPKM 16.8), heart (RPKM 5.1) and 1 other tissue
DPY19L2P2	chr7	103175133	103280410	-	ENSG00000170629.14	transcribed_unprocessed_pseudogene	-	7q22.1	DPY19L2 pseudogene 2	-
DPY19L2P4	chr7	90119400	90125600	+	ENSG00000235436.10	transcribed_unprocessed_pseudogene	-	7q21.13	DPY19L2 pseudogene 4	-
DPY19L3	chr19	32405543	32485895	+	ENSG00000178904.18	protein_coding	-	19q13.11	dpy-19 like C-mannosyltransferase 3	-
DPY19L4	chr8	94719703	94793836	+	ENSG00000156162.16	protein_coding	-	8q22.1	dpy-19 like 4	Ubiquitous expression in thyroid (RPKM 10.0), ovary (RPKM 7.2) and 25 other tissues
DPY30	chr2	31867809	32039812	-	ENSG00000162961.13	protein_coding	Cps25|HDPY-30|Saf19	2p22.3	dpy-30 histone methyltransferase complex regulatory subunit	This gene encodes an integral core subunit of the SET1/MLL family of H3K4 methyltransferases. The encoded protein directly controls cell cycle regulators and plays an important role in the proliferation and differentiation of human hematopoietic progenitor cells. [provided by RefSeq, Mar 2016]
DPYD	chr1	97077743	97921049	-	ENSG00000188641.12	protein_coding	DHP|DHPDHASE|DPD	1p21.3	dihydropyrimidine dehydrogenase	The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
DPYD-AS2	chr1	97796921	97798066	+	ENSG00000235777.1	antisense	-	1p21.3	DPYD antisense RNA 2	-
DPYSL2	chr8	26514022	26658178	+	ENSG00000092964.17	protein_coding	CRMP-2|CRMP2|DHPRP2|DRP-2|DRP2|N2A3|ULIP-2|ULIP2	8p21.2	dihydropyrimidinase like 2	This gene encodes a member of the collapsin response mediator protein family. Collapsin response mediator proteins form homo- and hetero-tetramers and facilitate neuron guidance, growth and polarity. The encoded protein promotes microtubule assembly and is required for Sema3A-mediated growth cone collapse, and also plays a role in synaptic signaling through interactions with calcium channels. This gene has been implicated in multiple neurological disorders, and hyperphosphorylation of the encoded protein may play a key role in the development of Alzheimers disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
DPYSL3	chr5	147390811	147510056	-	ENSG00000113657.12	protein_coding	CRMP-4|CRMP4|DRP-3|DRP3|LCRMP|ULIP|ULIP-1	5q32	dihydropyrimidinase like 3	Broad expression in brain (RPKM 51.8), prostate (RPKM 49.3) and 22 other tissues
DPYSL4	chr10	132186900	132205776	+	ENSG00000151640.12	protein_coding	CRMP3|DRP-4|ULIP4	10q26.3	dihydropyrimidinase like 4	Biased expression in brain (RPKM 6.6), heart (RPKM 2.6) and 6 other tissues
DPYSL5	chr2	26847747	26950351	+	ENSG00000157851.16	protein_coding	CRAM|CRMP-5|CRMP5|CV2|RTSC4|Ulip6	2p23.3	dihydropyrimidinase like 5	This gene encodes a member of the CRMP (collapsing response mediator protein) family thought to be involved in neural development. Antibodies to the encoded protein were found in some patients with neurologic symptoms who had paraneoplastic syndrome. A pseudogene of this gene is found on chromosome 11. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]
DQX1	chr2	74518131	74526336	-	ENSG00000144045.13	protein_coding	-	2p13.1	DEAQ-box RNA dependent ATPase 1	-
DR1	chr1	93345888	93369498	+	ENSG00000117505.12	protein_coding	NC2|NC2-BETA|NC2B|NCB2	1p22.1	down-regulator of transcription 1	This gene encodes a TBP- (TATA box-binding protein) associated phosphoprotein that represses both basal and activated levels of transcription. The encoded protein is phosphorylated in vivo and this phosphorylation affects its interaction with TBP. This protein contains a histone fold motif at the amino terminus, a TBP-binding domain, and a glutamine- and alanine-rich region. The binding of DR1 repressor complexes to TBP-promoter complexes may establish a mechanism in which an altered DNA conformation, together with the formation of higher order complexes, inhibits the assembly of the preinitiation complex and controls the rate of RNA polymerase II transcription. [provided by RefSeq, Jul 2008]
DRAM1	chr12	101877351	102012130	+	ENSG00000136048.13	protein_coding	DRAM	12q23.2	DNA damage regulated autophagy modulator 1	This gene is regulated as part of the p53 tumor suppressor pathway. The gene encodes a lysosomal membrane protein that is required for the induction of autophagy by the pathway. Decreased transcriptional expression of this gene is associated with various tumors. This gene has a pseudogene on chromosome 4. [provided by RefSeq, Jul 2008]
DRAM2	chr1	111117333	111140216	-	ENSG00000156171.14	protein_coding	CORD21|PRO180|TMEM77|WWFQ154	1p13.3	DNA damage regulated autophagy modulator 2	The protein encoded by this gene binds microtubule-associated protein 1 light chain 3 and is required for autophagy. Defects in this gene are a cause of retinal dystrophy. In addition, two microRNAs (microRNA 125b-1 and microRNA 144) can bind to the mRNA of this gene and produce the disease state. [provided by RefSeq, Mar 2017]
DRAP1	chr11	65919257	65921561	+	ENSG00000175550.7	protein_coding	NC2-alpha	11q13.1	DR1 associated protein 1	Transcriptional repression is a general mechanism for regulating transcriptional initiation in organisms ranging from yeast to humans.  Accurate initiation of transcription from eukaryotic protein-encoding genes requires the assembly of a large multiprotein complex consisting of RNA polymerase II and general transcription factors such as TFIIA, TFIIB, and TFIID. DR1 is a repressor that interacts with the TATA-binding protein (TBP) of TFIID and prevents the formation of an active transcription complex by precluding the entry of TFIIA and/or TFIIB into the preinitiation complex. The protein encoded by this gene is a corepressor of transcription that interacts with DR1 to enhance DR1-mediated repression. The interaction between this corepressor and DR1 is required for corepressor function and appears to stabilize the TBP-DR1-DNA complex. [provided by RefSeq, Jul 2008]
DRAXIN	chr1	11691729	11725857	+	ENSG00000162490.6	protein_coding	AGPA3119|C1orf187|UNQ3119|neucrin	1p36.22	dorsal inhibitory axon guidance protein	Low expression observed in reference dataset
DRC1	chr2	26401916	26456711	+	ENSG00000157856.10	protein_coding	C2orf39|CCDC164|CILD21	2p23.3	dynein regulatory complex subunit 1	This gene encodes a central component of the nexin-dynein complex (N-DRC), which regulates the assembly of ciliary dynein. Mutations in this gene can cause ciliary dyskinesia. [provided by RefSeq, Aug 2015]
DRC3	chr17	17972813	18016889	+	ENSG00000171962.17	protein_coding	CFAP134|LRRC48	17p11.2|17p11.2	dynein regulatory complex subunit 3	Broad expression in testis (RPKM 3.8), thyroid (RPKM 2.3) and 17 other tissues
DRC7	chr16	57694793	57731805	+	ENSG00000159625.14	protein_coding	C16orf50|CCDC135|CFAP50|FAP50	16q21	dynein regulatory complex subunit 7	Restricted expression toward testis (RPKM 24.8)
DRD2	chr11	113409615	113475691	-	ENSG00000149295.13	protein_coding	D2DR|D2R	11q23.2	dopamine receptor D2	This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]
DRD4	chr11	637293	640706	+	ENSG00000069696.6	protein_coding	D4DR	11p15.5	dopamine receptor D4	This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008]
DRD5	chr4	9781680	9784009	+	ENSG00000169676.5	protein_coding	DBDR|DRD1B|DRD1L2	4p16.1	dopamine receptor D5	This gene encodes the D5 subtype of the dopamine receptor. The D5 subtype is a G-protein coupled receptor which stimulates adenylyl cyclase. This receptor is expressed in neurons in the limbic regions of the brain. It has a 10-fold higher affinity for dopamine than the D1 subtype. Pseudogenes related to this gene reside on chromosomes 1 and 2. [provided by RefSeq, Jul 2008]
DRG1	chr22	31399523	31530634	+	ENSG00000185721.12	protein_coding	NEDD3	22q12.2	developmentally regulated GTP binding protein 1	Enables several functions, including GTPase activity; identical protein binding activity; and potassium ion binding activity. Involved in positive regulation of microtubule polymerization and regulation of mitotic spindle assembly. Located in cytosol and nuclear body. Part of polysome. [provided by Alliance of Genome Resources, Apr 2022]
DRG2	chr17	18087886	18107971	+	ENSG00000108591.9	protein_coding	-	17p11.2	developmentally regulated GTP binding protein 2	Ubiquitous expression in ovary (RPKM 11.9), prostate (RPKM 10.9) and 25 other tissues
DRGX	chr10	49364181	49396016	-	ENSG00000165606.8	protein_coding	DRG11|PRRXL1	10q11.23	dorsal root ganglia homeobox	Biased expression in adrenal (RPKM 3.2) and skin (RPKM 0.2)
DROSHA	chr5	31400497	31532196	-	ENSG00000113360.16	protein_coding	ETOHI2|HSA242976|RANSE3L|RN3|RNASE3L|RNASEN	5p13.3	drosha ribonuclease III	This gene encodes a ribonuclease (RNase) III double-stranded RNA-specific ribonuclease and subunit of the microprocessor protein complex, which catalyzes the initial processing step of microRNA (miRNA) synthesis. The encoded protein cleaves the stem loop structure from the primary microRNA (pri-miRNA) in the nucleus, yielding the precursor miRNA (pre-miRNA), which is then exported to the cytoplasm for further processing. In a human cell line lacking a functional copy of this gene, canonical miRNA synthesis is reduced. Somatic mutations in this gene have been observed in human patients with kidney cancer. [provided by RefSeq, Sep 2016]
DSC2	chr18	31058840	31102415	-	ENSG00000134755.14	protein_coding	ARVD11|CDHF2|DG2|DGII/III|DSC3	18q12.1	desmocollin 2	This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
DSC3	chr18	30990008	31042815	-	ENSG00000134762.16	protein_coding	CDHF3|DSC|DSC1|DSC2|DSC4|HT-CP	18q12.1	desmocollin 3	The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are a cause of hypotrichosis and recurrent skin vesicles disorder. The protein can act as an autoantigen in pemphigus diseases, and it is also considered to be a biomarker for some cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]
DSCAM	chr21	40010999	40847139	-	ENSG00000171587.14	protein_coding	CHD2|CHD2-42|CHD2-52	21q22.2	DS cell adhesion molecule	This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
DSCAML1	chr11	117427773	117817525	-	ENSG00000177103.13	protein_coding	DSCAM2	11q23.3	DS cell adhesion molecule like 1	The protein encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type. [provided by RefSeq, Sep 2016]
DSCC1	chr8	119833976	119856010	-	ENSG00000136982.5	protein_coding	DCC1	8q24.12	DNA replication and sister chromatid cohesion 1	CHTF18 (MIM 613201), CHTF8 (MIM 613202), and DSCC1 are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009]
DSCR10	chr21	38206156	38208644	+	ENSG00000233316.4	sense_intronic	-	21q22.13	Down syndrome critical region 10	-
DSCR8	chr21	38121451	38188016	+	ENSG00000198054.11	protein_coding	C21orf65|CT25.1a|CT25.1b|MMA-1|MMA-1a|MMA-1b|MMA1|MTAG2	21q22.13	Down syndrome critical region 8	Restricted expression toward testis (RPKM 8.9)
DSE	chr6	116254173	116444860	+	ENSG00000111817.16	protein_coding	DS-epi1|DSEP|DSEPI|EDSMC2|SART-2|SART2	6q22.1	dermatan sulfate epimerase	The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. Mutations in this gene cause inmusculocontractural Ehlers-Danlos syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9, and a paralogous gene exists on chromosome 18. [provided by RefSeq, Apr 2016]
DSG2	chr18	31498043	31549008	+	ENSG00000046604.12	protein_coding	CDHF5|HDGC	18q12.1	desmoglein 2	This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jan 2016]
DSG4	chr18	31376777	31414912	+	ENSG00000175065.11	protein_coding	CDGF13|CDHF13|HYPT6|LAH	18q12.1	desmoglein 4	This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a transmembrane component of desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in the gene are associated with localized autosomal recessive hypotrichosis and monilethrix, characterized by impaired hair growth. [provided by RefSeq, May 2016]
DSN1	chr20	36751791	36773818	-	ENSG00000149636.15	protein_coding	C20orf172|KNL3|MIS13|dJ469A13.2|hKNL-3	20q11.23	DSN1 component of MIS12 kinetochore complex	This gene encodes a kinetochore protein that functions as part of the minichromosome instability-12 centromere complex. The encoded protein is required for proper kinetochore assembly and progression through the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]
DSP	chr6	7541575	7586717	+	ENSG00000096696.13	protein_coding	DCWHKTA|DP	6p24.3	desmoplakin	This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas, including skin fragility-woolly hair syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
DST	chr6	56457987	56954628	-	ENSG00000151914.19	protein_coding	BP240|BPA|BPAG1|CATX-15|CATX15|D6S1101|DMH|DT|EBSB2|HSAN6|MACF2	6p12.1	dystonin	This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010]
DSTN	chr20	17569863	17609919	+	ENSG00000125868.15	protein_coding	ACTDP|ADF|HEL32|bA462D18.2	20p12.1	destrin, actin depolymerizing factor	The product of this gene belongs to the actin-binding proteins ADF family. This family of proteins is responsible for enhancing the turnover rate of actin in vivo. This gene encodes the actin depolymerizing protein that severs actin filaments (F-actin) and binds to actin monomers (G-actin). Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
DSTNP1	chr21	46653558	46654022	-	ENSG00000230982.1	processed_pseudogene	-	21q22.3	DSTN pseudogene 1	-
DSTNP2	chr12	6884682	6885786	+	ENSG00000248593.3	transcribed_unprocessed_pseudogene	-	12p13.31	DSTN pseudogene 2	-
DSTYK	chr1	205142505	205211566	-	ENSG00000133059.16	protein_coding	CAKUT1|DustyPK|HDCMD38P|RIP5|RIPK5|SPG23	1q32.1	dual serine/threonine and tyrosine protein kinase	This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
DTD1	chr20	18567453	18763917	+	ENSG00000125821.11	protein_coding	C20orf88|DTD|DUE-B|DUEB|HARS2|pqn-68	20p11.23	D-aminoacyl-tRNA deacylase 1	The protein encoded by this gene is similar in sequence to histidyl-tRNA synthetase, which hydrolyzes D-tyrosyl-tRNA(Tyr) into D-tyrosine and free tRNA(Tyr). The encoded protein binds the DNA unwinding element and plays a role in the initiation of DNA replication. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
DTL	chr1	212035553	212107400	+	ENSG00000143476.17	protein_coding	CDT2|DCAF2|L2DTL|RAMP	1q32.3	denticleless E3 ubiquitin protein ligase homolog	Contributes to ubiquitin-protein transferase activity. Involved in several processes, including protein ubiquitination; regulation of G2/M transition of mitotic cell cycle; and translesion synthesis. Located in centrosome; cytosol; and nuclear lumen. Part of Cul4A-RING E3 ubiquitin ligase complex and Cul4B-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
DTNB	chr2	25377198	25673647	-	ENSG00000138101.18	protein_coding	-	2p23.3	dystrobrevin beta	Ubiquitous expression in salivary gland (RPKM 3.0), brain (RPKM 2.3) and 25 other tissues
DTNBP1	chr6	15522801	15663058	-	ENSG00000047579.19	protein_coding	BLOC1S8|DBND|HPS7|My031|SDY	6p22.3	dystrobrevin binding protein 1	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
DTWD1	chr15	49620980	49656232	+	ENSG00000104047.14	protein_coding	MDS009	15q21.2	DTW domain containing 1	Ubiquitous expression in endometrium (RPKM 2.7), gall bladder (RPKM 2.4) and 25 other tissues
DTWD2	chr5	118837322	118988545	-	ENSG00000169570.9	protein_coding	-	5q23.1	DTW domain containing 2	Ubiquitous expression in thyroid (RPKM 4.3), kidney (RPKM 2.3) and 24 other tissues
DTX1	chr12	113056709	113098028	+	ENSG00000135144.7	protein_coding	RNF140|hDx-1	12q24.13	deltex E3 ubiquitin ligase 1	Studies in Drosophila have identified this gene as encoding a positive regulator of the Notch-signaling pathway. The human gene encodes a protein of unknown function; however, it may play a role in basic helix-loop-helix transcription factor activity. [provided by RefSeq, Jul 2008]
DTX2	chr7	76461676	76505995	+	ENSG00000091073.19	protein_coding	RNF58	7q11.23	deltex E3 ubiquitin ligase 2	DTX2 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]
DTX2P1	chr7	76978617	77004308	+	ENSG00000186704.9	transcribed_unprocessed_pseudogene	-	7q11.23	DTX2 pseudogene 1	-
DTX3	chr12	57604622	57609804	+	ENSG00000178498.15	protein_coding	RNF154|deltex3	12q13.3	deltex E3 ubiquitin ligase 3	DTX3 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]
DTX3L	chr3	122564238	122575203	+	ENSG00000163840.9	protein_coding	BBAP|RNF143	3q21.1	deltex E3 ubiquitin ligase 3L	DTX3L functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]
DTX4	chr11	59171430	59208587	+	ENSG00000110042.7	protein_coding	RNF155	11q12.1	deltex E3 ubiquitin ligase 4	Ubiquitous expression in urinary bladder (RPKM 13.0), lung (RPKM 11.7) and 25 other tissues
DTYMK	chr2	241675742	241686991	-	ENSG00000168393.12	protein_coding	CDC8|PP3731|TMPK|TYMK	2q37.3	deoxythymidylate kinase	Ubiquitous expression in bone marrow (RPKM 9.1), lymph node (RPKM 8.0) and 25 other tissues
DUOX1	chr15	45129933	45165576	+	ENSG00000137857.17	protein_coding	LNOX1|NOXEF1|THOX1	15q21.1	dual oxidase 1	The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes proteins encoded by this gene and the similar DUOX2 gene. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. This protein generates hydrogen peroxide and thereby plays a role in the activity of thyroid peroxidase, lactoperoxidase, and in lactoperoxidase-mediated antimicrobial defense at mucosal surfaces. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2012]
DUOX2	chr15	45092650	45114344	-	ENSG00000140279.12	protein_coding	LNOX2|NOXEF2|P138-TOX|TDH6|THOX2	15q21.1	dual oxidase 2	The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. [provided by RefSeq, Jul 2008]
DUOXA1	chr15	45117367	45129938	-	ENSG00000140254.12	protein_coding	NIP|NUMBIP|mol	15q21.1	dual oxidase maturation factor 1	Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA1 and DUOXA2, respectively, which is essential for the maturation and function of the DUOX enzyme complexes. This gene encodes the DUOX1 activator or maturation factor DUOXA1. Rat studies identified a bidirectional promoter which controls the transcription of the DUOX1 and DUOXA1 genes. This protein is cotransported to the cell surface when coexpressed with DUOX1 and is retained in the endoplasmic reticulum when expressed without DUOX1 protein. The expression of this gene or the DUOX1 gene is not suppressed by thyroglobulin (Tg), a macromolecular precursor in thyroid hormone synthesis, while the expression of the DUOX2 and DUOXA2 are significantly suppressed by the Tg. This protein is also a p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
DUOXA2	chr15	45114321	45118421	+	ENSG00000140274.13	protein_coding	SIMNIPHOM|TDH5	15q21.1	dual oxidase maturation factor 2	This gene encodes an endoplasmic reticulum protein that is necessary for proper cellular localization and maturation of functional dual oxidase 2. Mutations in this gene have been associated with thyroid dyshormonogenesis 5.[provided by RefSeq, Feb 2010]
DUS1L	chr17	82057506	82065887	-	ENSG00000169718.17	protein_coding	DUS1|PP3111	17q25.3	dihydrouridine synthase 1 like	Ubiquitous expression in spleen (RPKM 23.4), prostate (RPKM 22.1) and 25 other tissues
DUS2	chr16	67987746	68079320	+	ENSG00000167264.17	protein_coding	DUS2L|SMM1|URLC8	16q22.1	dihydrouridine synthase 2	This gene encodes a cytoplasmic protein that catalyzes the conversion of uridine residues to dihydrouridine in the D-loop of tRNA. The resulting modified bases confer enhanced regional flexibility to tRNA. The encoded protein may increase the rate of translation by inhibiting an interferon-induced protein kinase. This gene has been implicated in pulmonary carcinogenesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]
DUS3L	chr19	5784832	5791238	-	ENSG00000141994.15	protein_coding	DUS3	19p13.3	dihydrouridine synthase 3 like	Ubiquitous expression in testis (RPKM 13.5), bone marrow (RPKM 10.1) and 25 other tissues
DUS4L	chr7	107563484	107578464	+	ENSG00000105865.10	protein_coding	DUS4|PP35	7q22.3	dihydrouridine synthase 4 like	Ubiquitous expression in thyroid (RPKM 3.2), testis (RPKM 2.8) and 25 other tissues
DUSP1	chr5	172768090	172771195	-	ENSG00000120129.5	protein_coding	CL100|HVH1|MKP-1|MKP1|PTPN10	5q35.1	dual specificity phosphatase 1	The protein encoded by this gene is a phosphatase with dual specificity for tyrosine and threonine. The encoded protein can dephosphorylate MAP kinase MAPK1/ERK2, which results in its involvement in several cellular processes. This protein appears to play an important role in the human cellular response to environmental stress as well as in the negative regulation of cellular proliferation. Finally, the encoded protein can make some solid tumors resistant to both chemotherapy and radiotherapy, making it a target for cancer therapy. [provided by RefSeq, Aug 2017]
DUSP10	chr1	221701424	221742176	-	ENSG00000143507.17	protein_coding	MKP-5|MKP5	1q41	dual specificity phosphatase 10	Dual specificity protein phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the MAP kinase superfamily, which is associated with cellular proliferation and differentiation. Different members of this family of dual specificity phosphatases show distinct substrate specificities for MAP kinases, different tissue distribution and subcellular localization, and different modes of expression induction by extracellular stimuli. This gene product binds to and inactivates p38 and SAPK/JNK. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
DUSP12	chr1	161749758	161757238	+	ENSG00000081721.11	protein_coding	DUSP1|YVH1	1q23.3	dual specificity phosphatase 12	The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product is the human ortholog of the Saccharomyces cerevisiae YVH1 protein tyrosine phosphatase. It is localized predominantly in the nucleus, and is novel in that it contains, and is regulated by a zinc finger domain. [provided by RefSeq, Jul 2008]
DUSP13	chr10	75094432	75109221	-	ENSG00000079393.20	protein_coding	BEDP|DUSP13A|DUSP13B|MDSP|SKRP4|TMDP	10q22.2	dual specificity phosphatase 13	Members of the protein-tyrosine phosphatase superfamily cooperate with protein kinases to regulate cell proliferation and  differentiation. This superfamily is separated into two families based on the substrate that is dephosphorylated. One family, the dual specificity phosphatases (DSPs) acts on both phosphotyrosine and phosphoserine/threonine residues. This gene encodes different but related DSP proteins through the use of non-overlapping open reading frames, alternate splicing, and presumed different transcription promoters. Expression of the distinct proteins from this gene has been found to be tissue specific and the proteins may be involved in postnatal development of specific tissues. A protein encoded by the upstream ORF was found in skeletal muscle, whereas the encoded protein from the downstream ORF was found only in testis. In mouse, a similar pattern of expression was found. Multiple alternatively spliced transcript variants were described, but the full-length sequence of only some were determined. [provided by RefSeq, Jul 2008]
DUSP14	chr17	37489831	37513501	+	ENSG00000276023.4	protein_coding	MKP-L|MKP6	17q12	dual specificity phosphatase 14	Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. They have been implicated as major modulators of critical signaling pathways. DUSP14 contains the consensus DUSP C-terminal catalytic domain but lacks the N-terminal CH2 domain found in the MKP (mitogen-activated protein kinase phosphatase) class of DUSPs (see MIM 600714) (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009]
DUSP15	chr20	31847637	31870747	-	ENSG00000149599.15	protein_coding	C20orf57|VHY	20q11.21	dual specificity phosphatase 15	The protein encoded by this gene has both protein-tyrosine phophatase activity and serine/threonine-specific phosphatase activity, and therefore is known as a dual specificity phosphatase. This protein may function in the differentiation of oligodendrocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
DUSP16	chr12	12474210	12562383	-	ENSG00000111266.8	protein_coding	MKP-7|MKP7	12p13.2	dual specificity phosphatase 16	This gene encodes a mitogen-activated protein kinase phosphatase that is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. The encoded protein specifically regulates the c-Jun amino-terminal kinase (JNK) and extracellular signal-regulated kinase (ERK) pathways.[provided by RefSeq, May 2010]
DUSP18	chr22	30652051	30667890	-	ENSG00000167065.13	protein_coding	DSP18|DUSP20|LMWDSP20	22q12.2	dual specificity phosphatase 18	Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. They have been implicated as major modulators of critical signaling pathways. DUSP18 contains the consensus DUSP C-terminal catalytic domain but lacks the N-terminal CH2 domain found in the MKP (mitogen-activated protein kinase phosphatase) class of DUSPs (see MIM 600714) (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009]
DUSP19	chr2	183078559	183100005	+	ENSG00000162999.12	protein_coding	DUSP17|LMWDSP3|SKRP1|TS-DSP1	2q32.1	dual specificity phosphatase 19	Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. They have been implicated as major modulators of critical signaling pathways. DUSP19 contains a variation of the consensus DUSP C-terminal catalytic domain, with the last serine residue replaced by alanine, and lacks the N-terminal CH2 domain found in the MKP (mitogen-activated protein kinase phosphatase) class of DUSPs (see MIM 600714) (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009]
DUSP2	chr2	96143166	96145440	-	ENSG00000158050.4	protein_coding	PAC-1|PAC1	2q11.2	dual specificity phosphatase 2	 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily.  These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues.  They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation.  Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli.  This gene product inactivates ERK1 and ERK2, is predominantly expressed in hematopoietic tissues, and is localized in the nucleus. [provided by RefSeq, Jul 2008]
DUSP22	chr6	291630	351355	+	ENSG00000112679.14	protein_coding	JKAP|JSP-1|JSP1|LMW-DSP2|LMWDSP2|MKP-x|MKPX|VHX	6p25.3	dual specificity phosphatase 22	Enables non-membrane spanning protein tyrosine phosphatase activity and protein tyrosine kinase binding activity. Involved in several processes, including cellular response to epidermal growth factor stimulus; negative regulation of focal adhesion assembly; and negative regulation of non-membrane spanning protein tyrosine kinase activity. Acts upstream of or within negative regulation of transcription by RNA polymerase II. Located in plasma membrane. Part of cytoplasm; filamentous actin; and leading edge of lamellipodium. [provided by Alliance of Genome Resources, Apr 2022]
DUSP28	chr2	240560054	240564014	+	ENSG00000188542.9	protein_coding	DUSP26|VHP	2q37.3	dual specificity phosphatase 28	Ubiquitous expression in testis (RPKM 1.8), bone marrow (RPKM 1.4) and 25 other tissues
DUSP29	chr10	 75037472	75073642	-	ENSG00000188716	protein-coding	DUPD1|DUSP27|FMDSP	10q22.2	dual specificity phosphatase 29	-
DUSP3	chr17	43766121	43778988	-	ENSG00000108861.8	protein_coding	VHR	17q21.31	dual specificity phosphatase 3	The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene maps in a region that contains the BRCA1 locus which confers susceptibility to breast and ovarian cancer. Although DUSP3 is expressed in both breast and ovarian tissues, mutation screening in breast cancer pedigrees and in sporadic tumors was negative, leading to the conclusion that this gene is not BRCA1. [provided by RefSeq, Jul 2008]
DUSP5	chr10	110497838	110511544	+	ENSG00000138166.5	protein_coding	DUSP|HVH3	10q25.2	dual specificity phosphatase 5	 The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily.  These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues.  They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation.  Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli.  This gene product inactivates ERK1, is expressed in a variety of tissues with the highest levels in pancreas and brain, and is localized in the nucleus. [provided by RefSeq, Jul 2008]
DUSP6	chr12	89347232	89353271	-	ENSG00000139318.7	protein_coding	HH19|MKP3|PYST1	12q21.33	dual specificity phosphatase 6	The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which are associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates ERK2, is expressed in a variety of tissues with the highest levels in heart and pancreas, and unlike most other members of this family, is localized in the cytoplasm. Mutations in this gene have been associated with congenital hypogonadotropic hypogonadism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
DUSP7	chr3	52048919	52056550	-	ENSG00000164086.9	protein_coding	MKPX|PYST2	3p21.2	dual specificity phosphatase 7	Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. DUSP7 belongs to a class of DUSPs, designated MKPs, that dephosphorylate MAPK (mitogen-activated protein kinase) proteins ERK (see MIM 601795), JNK (see MIM 601158), and p38 (see MIM 600289) with specificity distinct from that of individual MKP proteins. MKPs contain a highly conserved C-terminal catalytic domain and an N-terminal Cdc25 (see MIM 116947)-like (CH2) domain. MAPK activation cascades mediate various physiologic processes, including cellular proliferation, apoptosis, differentiation, and stress responses (summary by Patterson et al., 2009 [PubMed 19228121]).[supplied by OMIM, Dec 2009]
DUSP8	chr11	1554044	1571920	-	ENSG00000184545.10	protein_coding	C11orf81|HB5|HVH-5|HVH8	11p15.5	dual specificity phosphatase 8	The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regulate members of the mitogen-activated protein (MAP) kinase superfamily (MAPK/ERK, SAPK/JNK, p38), which is associated with cellular proliferation and differentiation. Different members of the family of dual specificity phosphatases show distinct substrate specificities for various MAP kinases, different tissue distribution and subcellular localization, and different modes of inducibility of their expression by extracellular stimuli. This gene product inactivates SAPK/JNK and p38, is expressed predominantly in the adult brain, heart, and skeletal muscle, is localized in the cytoplasm, and is induced by nerve growth factor and insulin. An intronless pseudogene for DUSP8 is present on chromosome 10q11.2. [provided by RefSeq, Jul 2008]
DUSP8P5	chr10	73731824	73733638	+	ENSG00000235316.1	processed_pseudogene	-	10q22.2	dual specificity phosphatase 8 pseudogene 5	-
DUT	chr15	48331011	48343373	+	ENSG00000128951.13	protein_coding	dUTPase	15q21.1	deoxyuridine triphosphatase	This gene encodes an essential enzyme of nucleotide metabolism. The encoded protein forms a ubiquitous, homotetrameric enzyme that hydrolyzes dUTP to dUMP and pyrophosphate. This reaction serves two cellular purposes: providing a precursor (dUMP) for the synthesis of thymine nucleotides needed for DNA replication, and limiting intracellular pools of dUTP. Elevated levels of dUTP lead to increased incorporation of uracil into DNA, which induces extensive excision repair mediated by uracil glycosylase. This repair process, resulting in the removal and reincorporation of dUTP, is self-defeating and leads to DNA fragmentation and cell death. Alternative splicing of this gene leads to different isoforms that localize to either the mitochondrion or nucleus. A related pseudogene is located on chromosome 19. [provided by RefSeq, Jul 2008]
DUTP1	chr3	125310881	125311350	+	ENSG00000229048.5	processed_pseudogene	DUTL	3q21.2	deoxyuridine triphosphatase pseudogene 1	-
DUTP7	chr4	51865050	51865535	-	ENSG00000250473.1	processed_pseudogene	-	4q12	deoxyuridine triphosphatase pseudogene 7	-
DUX4L27	chr12	34208415	34209675	-	ENSG00000258794.3	processed_pseudogene	-	12p11.1	double homeobox 4 like 27 (pseudogene)	-
DUX4L34	chr20	29410348	29411600	-	ENSG00000282935.1	unprocessed_pseudogene	-	20q11.1	double homeobox 4 like 34 (pseudogene)	-
DUX4L37	chr20	29878636	29879363	-	ENSG00000283020.1	unprocessed_pseudogene	-	20q11.1	double homeobox 4 like 37 (pseudogene)	-
DUXA	chr19	57154021	57167443	-	ENSG00000258873.2	protein_coding	-	19q13.43	double homeobox A	Low expression observed in reference dataset
DVL1	chr1	1335276	1349350	-	ENSG00000107404.19	protein_coding	DRS2|DVL|DVL1L1|DVL1P1	1p36.33	dishevelled segment polarity protein 1	DVL1, the human homolog of the Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. DVL1 is a candidate gene for neuroblastomatous transformation. The Schwartz-Jampel syndrome and Charcot-Marie-Tooth disease type 2A have been mapped to the same region as DVL1. The phenotypes of these diseases may be consistent with defects which might be expected from aberrant expression of a DVL gene during development. [provided by RefSeq, Jul 2008]
DVL2	chr17	7225341	7234545	-	ENSG00000004975.11	protein_coding	-	17p13.1	dishevelled segment polarity protein 2	Ubiquitous expression in ovary (RPKM 14.8), endometrium (RPKM 11.4) and 25 other tissues
DVL3	chr3	184155388	184173610	+	ENSG00000161202.17	protein_coding	DRS3	3q27.1	dishevelled segment polarity protein 3	This gene is a member of a multi-gene family which shares strong similarity with the Drosophila dishevelled gene, dsh. The Drosophila dishevelled gene encodes a cytoplasmic phosphoprotein that regulates cell proliferation. [provided by RefSeq, Jul 2008]
DXO	chr6	31969810	31972292	-	ENSG00000204348.9	protein_coding	DOM3L|DOM3Z|NG6|RAI1	6p21.33	decapping exoribonuclease	This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. The function of its protein product is unknown, but its ubiquitous expression and conservation in both simple and complex eukaryotes suggests that this may be a housekeeping gene. [provided by RefSeq, Jul 2008]
DYDC2	chr10	80344745	80368073	+	ENSG00000133665.12	protein_coding	-	10q23.1	DPY30 domain containing 2	Biased expression in testis (RPKM 6.0), lung (RPKM 1.3) and 1 other tissue
DYM	chr18	49041474	49461347	-	ENSG00000141627.13	protein_coding	DMC|SMC	18q21.1	dymeclin	This gene encodes a protein which regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in early brain development. This gene is widely expressed in embryos and is particularly abundant in chodrocytes and brain tissues. It encodes a peripheral membrane protein which shuttles between the cytosol and Golgi complex. Mutations in this gene are associated with two types of recessive osteochondrodysplasia: Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia. [provided by RefSeq, Jun 2017]
DYNC1H1	chr14	101964528	102050792	+	ENSG00000197102.10	protein_coding	CMT2O|DHC1|DHC1a|DNCH1|DNCL|DNECL|DYHC|Dnchc1|HL-3|SMALED1|p22	14q32.31	dynein cytoplasmic 1 heavy chain 1	Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008]
DYNC1I1	chr7	95772506	96110322	+	ENSG00000158560.14	protein_coding	DNCI1|DNCIC1	7q21.3	dynein cytoplasmic 1 intermediate chain 1	Biased expression in brain (RPKM 14.7), adrenal (RPKM 3.3) and 4 other tissues
DYNC1I2	chr2	171687409	171748420	+	ENSG00000077380.15	protein_coding	DIC74|DNCI2|IC2|NEDMIBA	2q31.1	dynein cytoplasmic 1 intermediate chain 2	This gene encodes a member of the dynein intermediate chain family. The encoded protein is a non-catalytic component of the cytoplasmic dynein 1 complex, which acts as a retrograde microtubule motor to transport organelles and vesicles. A pseudogene of this gene is located on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
DYNC1I2P1	chr10	50264978	50266815	+	ENSG00000225137.1	processed_pseudogene	-	10q11.23	dynein cytoplasmic 1 intermediate chain 2 pseudogene 1	-
DYNC1LI1	chr3	32525971	32570874	-	ENSG00000144635.8	protein_coding	DLC-A|DNCLI1|LIC1	3p22.3	dynein cytoplasmic 1 light intermediate chain 1	The protein encoded by this gene belongs to light intermediate subunit family, whose members are components of the multiprotein cytoplasmic dynein complex, which is involved in intracellular trafficking and chromosome segregation during mitosis. The protein plays a role in moving the spindle assembly checkpoint (SAC) from kinetochores to spindle poles. The protein may also mediate binding to other cargo molecules to facilitate intracellular vesicle trafficking. [provided by RefSeq, Jul 2016]
DYNC1LI2	chr16	66720893	66751798	-	ENSG00000135720.12	protein_coding	DNCLI2|LIC2	16q22.1	dynein cytoplasmic 1 light intermediate chain 2	Cytoplasmic dynein is a microtubule-associated motor protein (Hughes et al., 1995 [PubMed 7738094]). See DYNC1H1 (MIM 600112) for general information about dyneins.[supplied by OMIM, Mar 2008]
DYNC2H1	chr11	103109431	103479863	+	ENSG00000187240.13	protein_coding	ATD3|DHC1b|DHC2|DNCH2|DYH1B|SRPS2B|SRTD3|hdhc11	11q22.3	dynein cytoplasmic 2 heavy chain 1	This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]
DYNC2I1	chr7	 158839245	158958698	+	ENSG00000126870	protein-coding	CFAP163|DIC6|FAP163|SRPS6|SRTD8|WDR60	7q36.3	dynein 2 intermediate chain 1	-
DYNC2LI1	chr2	43774039	43810010	+	ENSG00000138036.18	protein_coding	CGI-60|D2LIC|LIC3	2p21	dynein cytoplasmic 2 light intermediate chain 1	This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
DYNLL1	chr12	120469850	120498493	+	ENSG00000088986.10	protein_coding	DLC1|DLC8|DNCL1|DNCLC1|LC8|LC8a|PIN|hdlc1	12q24.31	dynein light chain LC8-type 1	Cytoplasmic dyneins are large enzyme complexes with a molecular mass of about 1,200 kD. They contain two force-producing heads formed primarily from dynein heavy chains, and stalks linking the heads to a basal domain, which contains a varying number of accessory intermediate chains. The complex is involved in intracellular transport and motility. The protein described in this record is a light chain and exists as part of this complex but also physically interacts with and inhibits the activity of neuronal nitric oxide synthase. Binding of this protein destabilizes the neuronal nitric oxide synthase dimer, a conformation necessary for activity, and it may regulate numerous biologic processes through its effects on nitric oxide synthase activity. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
DYNLL1P1	chr14	81246295	81246563	-	ENSG00000205579.3	processed_pseudogene	DNCL1P1	14q31.1	dynein light chain LC8-type 1 pseudogene 1	-
DYNLL2	chr17	58083415	58095536	+	ENSG00000264364.2	protein_coding	DNCL1B|Dlc2|RSPH22	17q22	dynein light chain LC8-type 2	Ubiquitous expression in brain (RPKM 120.2), kidney (RPKM 90.1) and 25 other tissues
DYNLRB1	chr20	34516409	34540958	+	ENSG00000125971.16	protein_coding	BITH|BLP|DNCL2A|DNLC2A|ROBLD1	20q11.22	dynein light chain roadblock-type 1	This gene is a member of the roadblock dynein light chain family. The encoded cytoplasmic protein is capable of binding intermediate chain proteins, interacts with transforming growth factor-beta, and has been implicated in the regulation of actin modulating proteins. Upregulation of this gene has been associated with hepatocellular carcinomas, suggesting that this gene may be involved in tumor progression. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 12 and 18. [provided by RefSeq, Aug 2013]
DYNLT1	chr6	158636474	158644739	-	ENSG00000146425.10	protein_coding	CW-1|TCTEL1|TCTEX1|tctex-1	6q25.3	dynein light chain Tctex-type 1	This gene encodes a component of the motor complex, cytoplasmic dynein, which transports cellular cargo along microtubules in the cell. The encoded protein regulates the length of primary cilia which are sensory organelles found on the surface of cells. The protein encoded by this gene interacts with viral proteins, like the minor capsid protein L2 of human papillomavirus, and is required for dynein-mediated delivery of the viral nucleic acid to the host nucleus. This protein interacts with oncogenic nucleoporins to disrupt gene regulation and cause leukemic transformation. Pseudogenes of this gene are present on chromosomes 4 and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
DYNLT2	chr6	 169725091	169751572	-	ENSG00000184786	protein-coding	TCTE3|TCTEX1D3|TCTEX2|Tctex4	6q27	dynein light chain Tctex-type 2	-
DYNLT2B	chr3	 196291219	196318240	-	ENSG00000213123	protein-coding	SRTD17|TCTEX1D2	3q29	dynein light chain Tctex-type 2B	-
DYNLT4	chr1	 44805893	44807351	-	ENSG00000188396	protein-coding	TCTEX1D4	1p34.1	dynein light chain Tctex-type 4	-
DYNLT5	chr1	 66752459	66779047	+	ENSG00000152760	protein-coding	TCTEX1D1	1p31.3	dynein light chain Tctex-type family member 5	-
DYRK1A	chr21	37365790	37517450	+	ENSG00000157540.19	protein_coding	DYRK|DYRK1|HP86|MNB|MNBH|MRD7	21q22.13	dual specificity tyrosine phosphorylation regulated kinase 1A	This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5 UTR or in the 3 coding region. These variants encode at least five different isoforms. [provided by RefSeq, Jul 2008]
DYRK1B	chr19	39825350	39834201	-	ENSG00000105204.13	protein_coding	AOMS3|MIRK	19q13.2	dual specificity tyrosine phosphorylation regulated kinase 1B	This gene encodes a member of a family of nuclear-localized protein kinases. The encoded protein participates in the regulation of the cell cycle. Expression of this gene may be altered in tumor cells, and mutations in this gene were found to cause abdominal obesity-metabolic syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
DYRK2	chr12	67648338	67665406	+	ENSG00000127334.10	protein_coding	-	12q15	dual specificity tyrosine phosphorylation regulated kinase 2	Ubiquitous expression in colon (RPKM 11.8), small intestine (RPKM 10.4) and 25 other tissues
DYRK3	chr1	206635536	206684419	+	ENSG00000143479.15	protein_coding	DYRK5|RED|REDK|hYAK3-2	1q32.1	dual specificity tyrosine phosphorylation regulated kinase 3	This gene product belongs to the DYRK family of dual-specificity protein kinases that catalyze autophosphorylation on serine/threonine and tyrosine residues. The members of this family share structural similarity, however, differ in their substrate specificity, suggesting their involvement in different cellular functions. The encoded protein has been shown to autophosphorylate on tyrosine residue and catalyze phosphorylation of histones H3 and H2B in vitro. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
DYRK4	chr12	4562204	4615302	+	ENSG00000010219.13	protein_coding	-	12p13.32	dual specificity tyrosine phosphorylation regulated kinase 4	Broad expression in testis (RPKM 18.7), thyroid (RPKM 5.2) and 23 other tissues
DYSF	chr2	71453722	71686768	+	ENSG00000135636.13	protein_coding	FER1L1|LGMD2B|LGMDR2|MMD1	2p13.2	dysferlin	The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]
DYTN	chr2	206651621	206718396	-	ENSG00000232125.2	protein_coding	-	2q33.3	dystrotelin	Note: Although the evidence for the protein-coding potential of this gene is not unambiguous, RefSeq has erred on the side of annotating it as a protein-coding gene. [25 Jul 2019]
DZANK1	chr20	18383367	18467281	-	ENSG00000089091.16	protein_coding	ANKRD64|C20orf12|C20orf84	20p11.23	double zinc ribbon and ankyrin repeat domains 1	This gene contains two ankyrin repeat-encoding regions. Ankyrin repeats are tandemly repeated modules of about 33 amino acids described as L-shaped structures consisting of a beta-hairpin and two alpha-helices. Ankyrin repeats occur in a large number of functionally diverse proteins, mainly from eukaryotes, and are known to function as protein-protein interaction domains. [provided by RefSeq, Dec 2018]
DZIP1	chr13	95578202	95644703	-	ENSG00000134874.17	protein_coding	DZIP|DZIPt1|MVP3|SPGF47	13q32.1	DAZ interacting zinc finger protein 1	Broad expression in testis (RPKM 14.7), kidney (RPKM 9.9) and 20 other tissues
DZIP1L	chr3	138061990	138115818	-	ENSG00000158163.14	protein_coding	DZIP2|PKD5	3q22.3	DAZ interacting zinc finger protein 1 like	Ubiquitous expression in stomach (RPKM 1.1), skin (RPKM 1.0) and 24 other tissues
DZIP3	chr3	108589682	108694846	+	ENSG00000198919.12	protein_coding	PPP1R66|UURF2|hRUL138	3q13.13	DAZ interacting zinc finger protein 3	Broad expression in testis (RPKM 21.6), brain (RPKM 12.1) and 21 other tissues
E2F1	chr20	33675683	33686404	-	ENSG00000101412.12	protein_coding	E2F-1|RBAP1|RBBP3|RBP3	20q11.22	E2F transcription factor 1	The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain.  This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq, Jul 2008]
E2F2	chr1	23506430	23531220	-	ENSG00000007968.6	protein_coding	E2F-2	1p36.12	E2F transcription factor 2	The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F1 and E2F3, have an additional cyclin binding domain. This protein binds specifically to retinoblastoma protein pRB in a cell-cycle dependent manner, and it exhibits overall 46% amino acid identity to E2F1. [provided by RefSeq, Jul 2008]
E2F3	chr6	20401906	20493715	+	ENSG00000112242.14	protein_coding	E2F-3	6p22.3	E2F transcription factor 3	This gene encodes a member of a small family of transcription factors that function through binding of DP interaction partner proteins. The encoded protein recognizes a specific sequence motif in DNA and interacts directly with the retinoblastoma protein (pRB) to regulate the expression of genes involved in the cell cycle. Altered copy number and activity of this gene have been observed in a number of human cancers. There are pseudogenes for this gene on chromosomes 2 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
E2F3P1	chr17	35490009	35491238	+	ENSG00000267046.1	processed_pseudogene	-	17q12	E2F transcription factor 3 pseudogene 1	-
E2F4	chr16	67192169	67198918	+	ENSG00000205250.8	protein_coding	E2F-4	16q22.1	E2F transcription factor 4	The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein binds to all three of the  tumor suppressor proteins pRB, p107 and p130, but with higher affinity to the last two. It plays an important role in the suppression of proliferation-associated genes, and its gene mutation and increased expression may be associated with human cancer. [provided by RefSeq, Jul 2008]
E2F5	chr8	85177225	85217158	+	ENSG00000133740.10	protein_coding	E2F-5	8q21.2	E2F transcription factor 5	The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionarily conserved domains that are present in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein is differentially phosphorylated and is expressed in a wide variety of human tissues. It has higher identity to E2F4 than to other family members. Both this protein and E2F4 interact with tumor suppressor proteins p130 and p107, but not with pRB. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008]
E2F6	chr2	11444375	11466177	-	ENSG00000169016.16	protein_coding	E2F-6	2p25.1	E2F transcription factor 6	This gene encodes a member of a family of transcription factors that play a crucial role in the control of the cell cycle. The protein encoded by this gene lacks the transactivation and tumor suppressor protein association domains found in other family members, and contains a modular suppression domain that functions in the inhibition of transcription. It interacts in a complex with chromatin modifying factors. There are pseudogenes for this gene on chromosomes 22 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
E2F7	chr12	77021247	77065580	-	ENSG00000165891.15	protein_coding	-	12q21.2	E2F transcription factor 7	Broad expression in testis (RPKM 1.6), bone marrow (RPKM 1.5) and 16 other tissues
E2F8	chr11	19224063	19241620	-	ENSG00000129173.12	protein_coding	E2F-8	11p15.1	E2F transcription factor 8	This gene encodes a member of a family of transcription factors which regulate the expression of genes required for progression through the cell cycle. The encoded protein regulates progression from G1 to S phase by ensuring the nucleus divides at the proper time. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012]
E4F1	chr16	2223566	2235742	+	ENSG00000167967.15	protein_coding	E4F	16p13.3	E4F transcription factor 1	The zinc finger protein encoded by this gene is one of several cellular transcription factors whose DNA-binding activities are regulated through the action of adenovirus E1A. A 50-kDa amino-terminal product is generated from the full-length protein through proteolytic cleavage. The protein is differentially regulated by E1A-induced phosphorylation. The full-length gene product represses transcription from the E4 promoter in the absence of E1A, while the 50-kDa form acts as a transcriptional activator in its presence. Alternative splicing results in multiple transcripts encoding different proteins. [provided by RefSeq, Jan 2014]
EAF1	chr3	15427355	15450635	+	ENSG00000144597.13	protein_coding	-	3p25.1	ELL associated factor 1	-
EAF1-AS1	chr3	15436171	15455940	-	ENSG00000249786.7	antisense	-	3p25.1	EAF1 antisense RNA 1	-
EAF2	chr3	121835183	121886526	+	ENSG00000145088.8	protein_coding	BM040|TRAITS|U19	3q13.33	ELL associated factor 2	Broad expression in bone marrow (RPKM 6.9), lymph node (RPKM 6.3) and 18 other tissues
EARS2	chr16	23522014	23557731	-	ENSG00000103356.15	protein_coding	COXPD12|MSE1|gluRS|mtGlnRS	16p12.2	glutamyl-tRNA synthetase 2, mitochondrial	This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
EBAG9P1	chr10	99697407	99697949	-	ENSG00000233690.1	processed_pseudogene	-	10q24.2	EBAG9 pseudogene 1	-
EBF1	chr5	158695916	159099761	-	ENSG00000164330.16	protein_coding	COE1|EBF|O/E-1|OLF1	5q33.3	EBF transcription factor 1	Broad expression in fat (RPKM 3.2), placenta (RPKM 0.8) and 17 other tissues
EBF2	chr8	25841730	26045397	-	ENSG00000221818.8	protein_coding	COE2|EBF-2|O/E-3|OE-3	8p21.2	EBF transcription factor 2	The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family of non-basic, helix-loop-helix transcription factors that have a well conserved DNA binding domain. The COE family proteins play an important role in variety of developmental processes. Studies in mouse suggest that this gene may be involved in the differentiation of osteoblasts. [provided by RefSeq, Oct 2011]
EBF3	chr10	129835283	129963841	-	ENSG00000108001.13	protein_coding	COE3|EBF-3|HADDS|O/E-2|OE-2	10q26.3	EBF transcription factor 3	This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011]
EBF4	chr20	2692878	2760108	+	ENSG00000088881.20	protein_coding	COE4|O/E-4|OE-4	20p13	EBF family member 4	EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles in neural development and B-cell maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM, Mar 2008]
EBI3	chr19	4229498	4237531	+	ENSG00000105246.5	protein_coding	IL-27B|IL27B|IL35B	19p13.3	Epstein-Barr virus induced 3	This gene was identified by its induced expression in B lymphocytes in response Epstein-Barr virus infection. It encodes a secreted glycoprotein belonging to the hematopoietin receptor family, and heterodimerizes with a 28 kDa protein to form interleukin 27 (IL-27). IL-27 regulates T cell and inflammatory responses, in part by activating the Jak/STAT pathway of CD4+ T cells. [provided by RefSeq, Sep 2008]
EBLN2	chr3	73061659	73063337	+	ENSG00000255423.1	protein_coding	EBLN-2	3p13	endogenous Bornavirus like nucleoprotein 2	-
EBLN3P	chr9	37079857	37090507	+	ENSG00000281649.1	lincRNA	EBLN3	9p13.2	endogenous Bornavirus like nucleoprotein 3, pseudogene	Ubiquitous expression in lymph node (RPKM 34.1), thyroid (RPKM 25.0) and 25 other tissues
EBNA1BP2	chr1	43164175	43270936	-	ENSG00000117395.12	protein_coding	EBP2|NOBP|P40	1p34.2	EBNA1 binding protein 2	Ubiquitous expression in testis (RPKM 24.1), thyroid (RPKM 21.0) and 25 other tissues
EBPL	chr13	49660723	49691475	-	ENSG00000123179.13	protein_coding	EBRP	13q14.2	EBP like	Ubiquitous expression in liver (RPKM 20.9), adrenal (RPKM 15.0) and 25 other tissues
ECD	chr10	73130155	73169055	-	ENSG00000122882.10	protein_coding	GCR2|HSGT1|SGT1	10q22.2	ecdysoneless cell cycle regulator	Ubiquitous expression in testis (RPKM 14.0), thyroid (RPKM 12.4) and 25 other tissues
ECE1	chr1	21217247	21345504	-	ENSG00000117298.14	protein_coding	ECE	1p36.12	endothelin converting enzyme 1	The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Sep 2009]
ECE2	chr3	184249650	184293031	+	ENSG00000145194.17	protein_coding	EEF1AKMT4	3q27.1	endothelin converting enzyme 2	Broad expression in adrenal (RPKM 4.6), brain (RPKM 3.0) and 22 other tissues
ECEL1	chr2	232479827	232487828	-	ENSG00000171551.11	protein_coding	DA5D|DINE|ECEX|XCE	2q37.1	endothelin converting enzyme like 1	This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
ECH1	chr19	38815422	38832005	-	ENSG00000104823.8	protein_coding	HPXEL	19q13.2	enoyl-CoA hydratase 1	This gene encodes a member of the hydratase/isomerase superfamily. The gene product shows high sequence similarity to enoyl-coenzyme A (CoA) hydratases of several species, particularly within a conserved domain characteristic of these proteins. The encoded protein, which contains a C-terminal peroxisomal targeting sequence, localizes to the peroxisome. The rat ortholog, which localizes to the matrix of both the peroxisome and mitochondria, can isomerize 3-trans,5-cis-dienoyl-CoA to 2-trans,4-trans-dienoyl-CoA, indicating that it is a delta3,5-delta2,4-dienoyl-CoA isomerase. This enzyme functions in the auxiliary step of the fatty acid beta-oxidation pathway. Expression of the rat gene is induced by peroxisome proliferators. [provided by RefSeq, Jul 2008]
ECHDC1	chr6	127288710	127343609	-	ENSG00000093144.18	protein_coding	HEL-S-76|MMCD|dJ351K20.2	6q22.33	ethylmalonyl-CoA decarboxylase 1	Ubiquitous expression in fat (RPKM 43.4), kidney (RPKM 24.8) and 25 other tissues
ECHDC2	chr1	52895910	52927212	-	ENSG00000121310.16	protein_coding	-	1p32.3	enoyl-CoA hydratase domain containing 2	-
ECHDC3	chr10	11742366	11764070	+	ENSG00000134463.14	protein_coding	-	10p14	enoyl-CoA hydratase domain containing 3	-
ECHS1	chr10	133362480	133373689	-	ENSG00000127884.4	protein_coding	ECHS1D|SCEH	10q26.3	enoyl-CoA hydratase, short chain 1	The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]
ECI1	chr16	2239395	2252300	-	ENSG00000167969.12	protein_coding	DCI	16p13.3	enoyl-CoA delta isomerase 1	This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]
ECM1	chr1	150508062	150513789	+	ENSG00000143369.14	protein_coding	URBWD	1q21.2	extracellular matrix protein 1	This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
ECM2	chr9	92493554	92536655	-	ENSG00000106823.12	protein_coding	-	9q22.31	extracellular matrix protein 2	Broad expression in fat (RPKM 50.1), ovary (RPKM 21.0) and 14 other tissues
ECPAS	chr9	 111360685	111484383	-	ENSG00000136813	protein-coding	ECM29|KIAA0368	9q31.3	Ecm29 proteasome adaptor and scaffold	Ubiquitous expression in testis (RPKM 17.3), fat (RPKM 15.6) and 25 other tissues
ECRG4	chr2	 106063241	106078155	+	ENSG00000119147	protein-coding	C2orf40	2q12.2	ECRG4 augurin precursor	Broad expression in fat (RPKM 29.6), thyroid (RPKM 20.4) and 17 other tissues
ECSCR	chr5	139448556	139462743	-	ENSG00000249751.3	protein_coding	ARIA|ECSM2	5q31.2	endothelial cell surface expressed chemotaxis and apoptosis regulator	The protein encoded by this gene is primarily found in endothelial cells and blood vessels, where it is involved in cell shape changes and EGF-induced cell migration. It can enhance the activation of vascular endothelial growth factor receptor-2/kinase insert domain receptor and also promote the proteolysis of internalized kinase insert domain receptor. This gene may play a role in angiogenesis-related diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
ECSIT	chr19	11505916	11529174	-	ENSG00000130159.13	protein_coding	SITPEC	19p13.2	ECSIT signaling integrator	Ubiquitous expression in heart (RPKM 25.2), ovary (RPKM 18.4) and 25 other tissues
ECT2	chr3	172750682	172821474	+	ENSG00000114346.13	protein_coding	ARHGEF31	3q26.31	epithelial cell transforming 2	The protein encoded by this gene is a guanine nucleotide exchange factor and transforming protein that is related to Rho-specific exchange factors and yeast cell cycle regulators. The expression of this gene is elevated with the onset of DNA synthesis and remains elevated during G2 and M phases. In situ hybridization analysis showed that expression is at a high level in cells undergoing mitosis in regenerating liver. Thus, this protein is expressed in a cell cycle-dependent manner during liver regeneration, and is thought to have an important role in the regulation of cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]
EDC3	chr15	74630558	74696292	-	ENSG00000179151.11	protein_coding	LSM16|MRT50|YJDC|YJEFN2|hYjeF_N2-15q23	15q24.1	enhancer of mRNA decapping 3	This gene encodes a protein that is important in mRNA degradation. The encoded protein is a component of a decapping complex that promotes efficient removal of the monomethylguanosine (m7G) cap from mRNAs, as part of the 5 to 3 mRNA decay pathway. Mutations in this gene have been identified in human patients with an autosomal recessive form of intellectual disability. [provided by RefSeq, May 2017]
EDC4	chr16	67873023	67884503	+	ENSG00000038358.14	protein_coding	GE1|Ge-1|HEDL5|HEDLS|RCD-8|RCD8	16q22.1	enhancer of mRNA decapping 4	Ubiquitous expression in testis (RPKM 17.8), bone marrow (RPKM 15.0) and 25 other tissues
EDDM3A	chr14	20745892	20748380	+	ENSG00000181562.4	protein_coding	EP3A|FAM12A|HE3-ALPHA|HE3A|HE3ALPHA|RAM1	14q11.2	epididymal protein 3A	Testicular sperm are morphologically differentiated but are not progressively motile nor able to fertilize an egg. Post-testicular maturation requires exposure of spermatozoa to the microenvironment of the epididymal lumen. Spermatozoa undergo extensive changes in the epididymis, including enzymatic modifications, loss of pre-existing components and addition of new glycoproteins from epididymal secretions. These modifying proteins and enzymes are synthesized by epithelial cells lining the epididymal duct and secreted apically into the lumen, where they come into contact with, and may be absorbed onto, the sperm membranes. The proteins encoded by the genes in this cluster are synthesized and secreted by epididymal epithelial cells. [provided by RefSeq, Jul 2008]
EDEM2	chr20	35115357	35147364	-	ENSG00000088298.12	protein_coding	C20orf31|C20orf49|bA4204.1	20q11.22	ER degradation enhancing alpha-mannosidase like protein 2	In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008]
EDEM3	chr1	184690231	184754913	-	ENSG00000116406.18	protein_coding	C1orf22|CDG2V	1q25.3	ER degradation enhancing alpha-mannosidase like protein 3	Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008]
EDF1	chr9	136862119	136866286	-	ENSG00000107223.12	protein_coding	CFAP280|EDF-1|MBF1	9q34.3	endothelial differentiation related factor 1	This gene encodes a protein that may regulate endothelial cell differentiation, lipid metabolism, and hormone-induced cardiomyocyte hypertrophy. The encoded protein has also been found to act as a transcriptional coactivator by interconnecting the general transcription factor TATA element-binding protein (TBP) and gene-specific activators. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
EDN1	chr6	12290363	12297194	+	ENSG00000078401.6	protein_coding	ARCND3|ET1|HDLCQ7|PPET1|QME	6p24.1	endothelin 1	This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
EDN3	chr20	59300427	59325992	+	ENSG00000124205.15	protein_coding	ET-3|ET3|HSCR4|PPET3|WS4B	20q13.32	endothelin 3	The protein encoded by this gene is a member of the endothelin family. Endothelins are endothelium-derived vasoactive peptides involved in a variety of biological functions. The active form of this protein is a 21 amino acid peptide processed from the precursor protein. The active peptide is a ligand for endothelin receptor type B (EDNRB). The interaction of this endothelin with EDNRB is essential for development of neural crest-derived cell lineages, such as melanocytes and enteric neurons. Mutations in this gene and EDNRB have been associated with Hirschsprung disease (HSCR) and Waardenburg syndrome (WS), which are congenital disorders involving neural crest-derived cells. Altered expression of this gene is implicated in tumorigenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
EDNRA	chr4	147480917	147544954	+	ENSG00000151617.15	protein_coding	ET-A|ETA|ETA-R|ETAR|ETRA|MFDA|hET-AR	4q31.22-q31.23	endothelin receptor type A	This gene encodes the receptor for endothelin-1, a peptide that plays a role in potent and long-lasting vasoconstriction. This receptor associates with guanine-nucleotide-binding (G) proteins, and this coupling activates a phosphatidylinositol-calcium second messenger system. Polymorphisms in this gene have been linked to migraine headache resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
EDNRB	chr13	77895481	77919768	-	ENSG00000136160.14	protein_coding	ABCDS|ET-B|ET-BR|ETB|ETB1|ETBR|ETRB|HSCR|HSCR2|WS4A	13q22.3	endothelin receptor type B	The protein encoded by this gene is a G protein-coupled receptor which activates a phosphatidylinositol-calcium second messenger system. Its ligand, endothelin, consists of a family of three potent vasoactive peptides: ET1, ET2, and ET3. Studies suggest that the multigenic disorder, Hirschsprung disease type 2, is due to mutations in the endothelin receptor type B gene. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]
EDNRB-AS1	chr13	77828222	77833950	+	ENSG00000225579.1	lincRNA	-	13q22.3	EDNRB antisense RNA 1	-
EDRF1	chr10	125719515	125764143	+	ENSG00000107938.17	protein_coding	C10orf137	10q26.2	erythroid differentiation regulatory factor 1	This gene may play a role in erythroid cell differentiation. The encoded protein inhibits DNA binding of the erythroid transcription factor GATA-1 and may regulate the expression of alpha-globin and gamma-globin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
EEA1	chr12	92770637	92929331	-	ENSG00000102189.16	protein_coding	MST105|MSTP105|ZFYVE2	12q22	early endosome antigen 1	Ubiquitous expression in esophagus (RPKM 9.9), fat (RPKM 8.8) and 25 other tissues
EED	chr11	86244544	86278813	+	ENSG00000074266.19	protein_coding	COGIS|HEED|WAIT1	11q14.2	embryonic ectoderm development	This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein interacts with enhancer of zeste 2, the cytoplasmic tail of integrin beta7, immunodeficiency virus type 1 (HIV-1) MA protein, and histone deacetylase proteins. This protein mediates repression of gene activity through histone deacetylation, and may act as a specific regulator of integrin function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
EEF1A1	chr6	73515750	73523797	-	ENSG00000156508.17	protein_coding	CCS-3|CCS3|EE1A1|EEF-1|EEF1A|EF-Tu|EF1A|EF1A1|EF1alpha1|GRAF-1EF|LENG7|PTI1|eEF1A-1	6q13	eukaryotic translation elongation factor 1 alpha 1	This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas, and the other isoform (alpha 2) is expressed in brain, heart and skeletal muscle. This isoform is identified as an autoantigen in 66% of patients with Felty syndrome. This gene has been found to have multiple copies on many chromosomes, some of which, if not all, represent different pseudogenes. [provided by RefSeq, Jul 2008]
EEF1A1P11	chr1	96446930	96448318	+	ENSG00000228502.1	processed_pseudogene	EEF1AL9	1p21.3	eukaryotic translation elongation factor 1 alpha 1 pseudogene 11	-
EEF1A1P12	chr2	106697331	106698676	-	ENSG00000214199.3	processed_pseudogene	EEF1AL10	2q12.2	eukaryotic translation elongation factor 1 alpha 1 pseudogene 12	-
EEF1A1P22	chr15	52937139	52938518	-	ENSG00000259612.1	processed_pseudogene	-	15q21.3	eukaryotic translation elongation factor 1 alpha 1 pseudogene 22	-
EEF1A1P5	chr9	133019486	133020874	+	ENSG00000196205.8	processed_pseudogene	EEF1AL3	9q34.13	eukaryotic translation elongation factor 1 alpha 1 pseudogene 5	Predicted to enable GTPase activity and translation elongation factor activity. Predicted to be involved in translational elongation. Located in extracellular exosome and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
EEF1A2	chr20	63488013	63499315	-	ENSG00000101210.10	protein_coding	DEE33|EEF1AL|EF-1-alpha-2|EF1A|EIEE33|HS1|MRD38|STN|STNL	20q13.33	eukaryotic translation elongation factor 1 alpha 2	This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. [provided by RefSeq, Mar 2014]
EEF1AKMT1	chr13	20728731	20773958	-	ENSG00000150456.10	protein_coding	ESP13|N6AMT2	13q12.11	EEF1A lysine methyltransferase 1	Ubiquitous expression in prostate (RPKM 5.0), endometrium (RPKM 4.9) and 25 other tissues
EEF1AKMT2	chr10	 124757834	124791887	-	ENSG00000203791	protein-coding	C10orf138|Efm4|METTL10	10q26.13	EEF1A lysine methyltransferase 2	Ubiquitous expression in testis (RPKM 5.1), thyroid (RPKM 4.9) and 25 other tissues
EEF1AKMT3	chr12	 57772614	57782541	+	ENSG00000123427	protein-coding	FAM119B|METTL21B	12q14.1	EEF1A lysine methyltransferase 3	Ubiquitous expression in thyroid (RPKM 5.3), ovary (RPKM 4.3) and 25 other tissues
EEF1B2	chr2	206159585	206162928	+	ENSG00000114942.13	protein_coding	EEF1B|EEF1B1|EF1B	2q33.3	eukaryotic translation elongation factor 1 beta 2	This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5 UTR. [provided by RefSeq, Jul 2008]
EEF1B2P7	chr2	232729523	232730198	-	ENSG00000213055.3	processed_pseudogene	-	2q37.1	eukaryotic translation elongation factor 1 beta 2 pseudogene 7	-
EEF1D	chr8	143579697	143599541	-	ENSG00000104529.17	protein_coding	EF-1D|EF1D|FP1047	8q24.3	eukaryotic translation elongation factor 1 delta	This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit, delta, functions as guanine nucleotide exchange factor. It is reported that following HIV-1 infection, this subunit interacts with HIV-1 Tat. This interaction results in repression of translation of host cell proteins and enhanced translation of viral proteins. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. Related pseudogenes have been defined on chromosomes 1, 6, 7, 9, 11, 13, 17, 19.[provided by RefSeq, Aug 2010]
EEF1DP1	chr19	14070342	14071237	+	ENSG00000228887.3	processed_pseudogene	-	19p13.12	eukaryotic translation elongation factor 1 delta pseudogene 1	-
EEF1DP7	chr17	63636601	63637113	+	ENSG00000263883.1	transcribed_processed_pseudogene	-	17q23.3	eukaryotic translation elongation factor 1 delta pseudogene 7	-
EEF1E1	chr6	8073360	8102578	-	ENSG00000124802.11	protein_coding	AIMP3|P18	6p24.3	eukaryotic translation elongation factor 1 epsilon 1	This gene encodes a multifunctional protein that localizes to both the cytoplasm and nucleus. In the cytoplasm, the encoded protein is an auxiliary component of the macromolecular aminoacyl-tRNA synthase complex. However, its mouse homolog has been shown to translocate to the nucleus in response to DNA damage, and it plays a positive role in ATM/ATR-mediated p53 activation. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream MUTED (muted homolog) gene. An EEF1E1-related pseudogene has been identified on chromosome 2. [provided by RefSeq, Dec 2010]
EEF1G	chr11	62559601	62574086	-	ENSG00000254772.9	protein_coding	EF1G|GIG35	11q12.3	eukaryotic translation elongation factor 1 gamma	This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit contains an N-terminal glutathione transferase domain, which may be involved in regulating the assembly of multisubunit complexes containing this elongation factor and aminoacyl-tRNA synthetases. [provided by RefSeq, Jul 2008]
EEF1GP7	chr1	52573114	52573816	+	ENSG00000236290.1	processed_pseudogene	-	1p32.3	eukaryotic translation elongation factor 1 gamma pseudogene 7	-
EEF2	chr19	3976056	3985469	-	ENSG00000167658.15	protein_coding	EEF-2|EF-2|EF2|SCA26	19p13.3	eukaryotic translation elongation factor 2	This gene encodes a member of the GTP-binding translation elongation factor family. This protein is an essential factor for protein synthesis. It promotes the GTP-dependent translocation of the nascent protein chain from the A-site to the P-site of the ribosome. This protein is completely inactivated by EF-2 kinase phosporylation. [provided by RefSeq, Jul 2008]
EEF2K	chr16	22206282	22288732	+	ENSG00000103319.11	protein_coding	CaMKIII|HSU93850|eEF-2K	16p12.2	eukaryotic elongation factor 2 kinase	This gene encodes a highly conserved protein kinase in the calmodulin-mediated signaling pathway that links activation of cell surface receptors to cell division. This kinase is involved in the regulation of protein synthesis. It phosphorylates eukaryotic elongation factor 2 (EEF2) and thus inhibits the EEF2 function. The activity of this kinase is increased in many cancers and may be a valid target for anti-cancer treatment. [provided by RefSeq, Jul 2008]
EEF2KMT	chr16	5084304	5097808	-	ENSG00000118894.14	protein_coding	EFM3|FAM86A|SB153|eEF2-KMT	16p13.3	eukaryotic elongation factor 2 lysine methyltransferase	Ubiquitous expression in testis (RPKM 8.0), thyroid (RPKM 6.9) and 25 other tissues
EEFSEC	chr3	128153454	128408646	+	ENSG00000132394.10	protein_coding	EFSEC|SELB	3q21.3	eukaryotic elongation factor, selenocysteine-tRNA specific	Ubiquitous expression in testis (RPKM 3.1), kidney (RPKM 2.8) and 25 other tissues
EEPD1	chr7	36153149	36301543	+	ENSG00000122547.10	protein_coding	HSPC107	7p14.2	endonuclease/exonuclease/phosphatase family domain containing 1	Ubiquitous expression in fat (RPKM 7.4), brain (RPKM 4.8) and 23 other tissues
EFCAB1	chr8	48710789	48735311	-	ENSG00000034239.10	protein_coding	-	8q11.21	EF-hand calcium binding domain 1	-
EFCAB10	chr7	105565120	105600875	-	ENSG00000185055.10	protein_coding	-	7q22.3	EF-hand calcium binding domain 10	-
EFCAB11	chr14	89794669	89954777	-	ENSG00000140025.15	protein_coding	C14orf143	14q32.11	EF-hand calcium binding domain 11	Predicted to enable calcium ion binding activity. [provided by Alliance of Genome Resources, Apr 2022]
EFCAB12	chr3	129401321	129428651	-	ENSG00000172771.11	protein_coding	C3orf25	3q21.3	EF-hand calcium binding domain 12	Broad expression in testis (RPKM 1.8), prostate (RPKM 1.5) and 14 other tissues
EFCAB13	chr17	47323290	47441312	+	ENSG00000178852.15	protein_coding	C17orf57	17q21.32	EF-hand calcium binding domain 13	Broad expression in testis (RPKM 5.5), thyroid (RPKM 2.8) and 21 other tissues
EFCAB13-DT	chr17	 47303443	47323901	-	ENSG00000263293	ncRNA	THCAT158	17q21.32	EFCAB13 divergent transcript	-
EFCAB14	chr1	46675159	46719064	-	ENSG00000159658.10	protein_coding	KIAA0494	1p33	EF-hand calcium binding domain 14	Ubiquitous expression in stomach (RPKM 36.1), fat (RPKM 35.6) and 25 other tissues
EFCAB2	chr1	244969705	245127164	+	ENSG00000203666.12	protein_coding	CFAP200|DRC8	1q44	EF-hand calcium binding domain 2	The gene encodes a protein that contains two EF-hand calcium-binding domains although its function has yet to be determined. Alternatively spliced transcripts have been observed. [provided by RefSeq, Mar 2014]
EFCAB5	chr17	29929200	30108452	+	ENSG00000176927.15	protein_coding	-	17q11.2	EF-hand calcium binding domain 5	-
EFCAB7	chr1	63523372	63572693	+	ENSG00000203965.12	protein_coding	-	1p31.3	EF-hand calcium binding domain 7	-
EFCAB8	chr20	32858923	32961609	+	ENSG00000215529.12	protein_coding	-	20q11.21	EF-hand calcium binding domain 8	-
EFCC1	chr3	129001629	129040742	+	ENSG00000114654.7	protein_coding	C3orf73|CCDC48	3q21.3	EF-hand and coiled-coil domain containing 1	Broad expression in lung (RPKM 5.0), ovary (RPKM 2.3) and 19 other tissues
EFEMP1	chr2	55865967	55924139	-	ENSG00000115380.19	protein_coding	DHRD|DRAD|FBLN3|FBNL|FIBL-3|MLVT|MTLV|S1-5	2p16.1	EGF containing fibulin extracellular matrix protein 1	This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]
EFEMP2	chr11	65866441	65873592	-	ENSG00000172638.12	protein_coding	ARCL1B|FBLN4|MBP1|UPH1	11q13.1	EGF containing fibulin extracellular matrix protein 2	A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]
EFHC1	chr6	52362123	52529886	+	ENSG00000096093.15	protein_coding	EJM1|POC9|RIB72|dJ304B14.2	6p12.2	EF-hand domain containing 1	This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
EFHD1	chr2	232606057	232682781	+	ENSG00000115468.11	protein_coding	MST133|MSTP133|PP3051|SWS2	2q37.1	EF-hand domain family member D1	This gene encodes a member of the EF-hand super family of calcium binding proteins, which are involved in a variety of cellular processes including mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene is composed of an N-terminal disordered region, proline-rich elements, two EF-hands, and a C-terminal coiled-coil domain. This protein has been shown to associate with the mitochondrial inner membrane, and in HeLa cells, acts as a novel mitochondrial calcium ion sensor for mitochondrial flash activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
EFHD2	chr1	15409895	15430343	+	ENSG00000142634.12	protein_coding	SWS1	1p36.21	EF-hand domain family member D2	Broad expression in bone marrow (RPKM 61.4), spleen (RPKM 51.1) and 25 other tissues
EFL1	chr15	82130230	82262763	-	ENSG00000140598.13	protein_coding	EFTUD1|FAM42A|HsT19294|RIA1|SDS2	15q25.2	elongation factor like GTPase 1	Enables GTPase activity and ribosome binding activity. Involved in GTP metabolic process and mature ribosome assembly. Predicted to be part of ribonucleoprotein complex. Implicated in Shwachman-Diamond syndrome. [provided by Alliance of Genome Resources, Apr 2022]
EFL1P1	chr15	 84080187	84126601	+	-	pseudogene	EFTUD1P1|FAM42B|HsT19321	15q25.2	elongation factor like GTPase 1 pseudogene 1	-
EFNA1	chr1	155127460	155134857	+	ENSG00000169242.11	protein_coding	B61|ECKLG|EFL1|EPLG1|GMAN|LERK-1|LERK1|TNFAIP4	1q22	ephrin A1	This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin which binds to the EPHA2, EPHA4, EPHA5, EPHA6, and EPHA7 receptors. Two transcript variants that encode different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]
EFNA2	chr19	1286154	1300237	+	ENSG00000099617.3	protein_coding	ELF-1|EPLG6|HEK7-L|LERK-6|LERK6	19p13.3	ephrin A2	This gene encodes a member of the ephrin family. The protein is composed of a signal sequence, a receptor-binding region, a spacer region, and a hydrophobic region. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. Posttranslational modifications determine whether this protein localizes to the nucleus or the cytoplasm. [provided by RefSeq, Jul 2008]
EFNA3	chr1	155078872	155087538	+	ENSG00000143590.13	protein_coding	EFL2|EPLG3|Ehk1-L|LERK3	1q21.3	ephrin A3	This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin. [provided by RefSeq, Jul 2008]
EFNA4	chr1	155063731	155069553	+	ENSG00000243364.7	protein_coding	EFL4|EPLG4|LERK4	1q21.3	ephrin A4	This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin. Three transcript variants that encode distinct proteins have been identified. [provided by RefSeq, Jul 2008]
EFNA5	chr5	107376889	107670895	-	ENSG00000184349.12	protein_coding	AF1|EFL5|EPLG7|GLC1M|LERK7|RAGS	5q21.3	ephrin A5	Ephrin-A5, a member of the ephrin gene family, prevents axon bundling in cocultures of cortical neurons with astrocytes, a model of late stage nervous system development and differentiation. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]
EFNB1	chrX	68828997	68842147	+	ENSG00000090776.5	protein_coding	CFND|CFNS|EFB1|EFL3|EPLG2|Elk-L|LERK2	Xq13.1	ephrin B1	The protein encoded by this gene is a type I membrane protein and a ligand of Eph-related receptor tyrosine kinases. It may play a role in cell adhesion and function in the development or maintenance of the nervous system. [provided by RefSeq, Jul 2008]
EFNB3	chr17	7705202	7711378	+	ENSG00000108947.4	protein_coding	EFL6|EPLG8|LERK8	17p13.1	ephrin B3	 EFNB3, a member of the ephrin gene family, is important in brain development as well as in its maintenance. Moreover, since levels of EFNB3 expression were particularly high in several forebrain subregions compared to other brain subregions, it may play a pivotal role in forebrain function.  The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH Receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]
EFR3A	chr8	131904088	132013642	+	ENSG00000132294.14	protein_coding	-	8q24.22	EFR3 homolog A	Ubiquitous expression in thyroid (RPKM 20.9), brain (RPKM 19.1) and 25 other tissues
EFR3B	chr2	25042130	25159137	+	ENSG00000084710.13	protein_coding	KIAA0953	2p23.3	EFR3 homolog B	Biased expression in brain (RPKM 12.6), lung (RPKM 1.9) and 6 other tissues
EFS	chr14	23356402	23365752	-	ENSG00000100842.12	protein_coding	CAS3|CASS3|EFS1|EFS2|HEFS|SIN	14q11.2	embryonal Fyn-associated substrate	The protein encoded by this gene is a member of the CAS (CRK-associated substrate) family of adaptor proteins which typically serve as scaffolds for the assembly of larger signaling complexes. These complexes form at the cell surface where integrin binding leads to the subsequent phosphorylation of a CAS protein. Additional binding of SRC family kinases leads to CAS hyperphosphorylation and the creation of binding sites for CRK and other proteins that cause actin cytoskeleton reorganization. This gene plays a role in integrin-mediated cell attachment, spreading, and migration and also plays a role in both normal and malignant cellular transformation. This broadly expressed gene has been shown to play a role in neurite outgrowth and its expression in the thymus and lymphocytes is important for T cell maturation and the development of immunological self-tolerance. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]
EFTUD2	chr17	44849943	44899662	-	ENSG00000108883.12	protein_coding	MFDGA|MFDM|SNRNP116|Snrp116|Snu114|U5-116KD	17q21.31	elongation factor Tu GTP binding domain containing 2	This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
EGF	chr4	109912884	110012266	+	ENSG00000138798.11	protein_coding	HOMG4|URG	4q25	epidermal growth factor	This gene encodes a member of the epidermal growth factor superfamily. The encoded preproprotein is proteolytically processed to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an important role in the growth, proliferation and differentiation of numerous cell types. This protein acts by binding with high affinity to the cell surface receptor, epidermal growth factor receptor. Defects in this gene are the cause of hypomagnesemia type 4. Dysregulation of this gene has been associated with the growth and progression of certain cancers. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
EGFL7	chr9	136658856	136672678	+	ENSG00000172889.15	protein_coding	NEU1|VE-STATIN|ZNEU1	9q34.3	EGF like domain multiple 7	This gene encodes a secreted endothelial cell protein that contains two epidermal growth factor-like domains. The encoded protein may play a role in regulating vasculogenesis. This protein may be involved in the growth and proliferation of tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
EGFL8	chr6	32164583	32168281	+	ENSG00000241404.6	protein_coding	C6orf8|NG3	6p21.32	EGF like domain multiple 8	Ubiquitous expression in ovary (RPKM 13.7), skin (RPKM 12.8) and 25 other tissues
EGFLAM	chr5	38258409	38465021	+	ENSG00000164318.17	protein_coding	AGRINL|AGRNL|PIKA	5p13.2-p13.1	EGF like, fibronectin type III and laminin G domains	Broad expression in placenta (RPKM 12.2), fat (RPKM 7.7) and 17 other tissues
EGFR	chr7	55019021	55211628	+	ENSG00000146648.17	protein_coding	ERBB|ERBB1|ERRP|HER1|NISBD2|PIG61|mENA	7p11.2	epidermal growth factor receptor	The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor, thus inducing receptor dimerization and tyrosine autophosphorylation leading to cell proliferation. Mutations in this gene are associated with lung cancer. EGFR is a component of the cytokine storm which contributes to a severe form of Coronavirus Disease 2019 (COVID-19) resulting from infection with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). [provided by RefSeq, Jul 2020]
EGLN1	chr1	231363751	231425044	-	ENSG00000135766.8	protein_coding	C1orf12|ECYT3|HALAH|HIF-PH2|HIFPH2|HPH-2|HPH2|PHD2|SM20|ZMYND6	1q42.2	egl-9 family hypoxia inducible factor 1	The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 2009]
EGLN2	chr19	40798996	40808433	+	ENSG00000269858.5	protein_coding	EIT-6|EIT6|HIF-PH1|HIFPH1|HPH-1|HPH-3|PHD1	19q13.2	egl-9 family hypoxia inducible factor 2	The hypoxia inducible factor (HIF) is a transcriptional complex that is involved in oxygen homeostasis. At normal oxygen levels, the alpha subunit of HIF is targeted for degration by prolyl hydroxylation. This gene encodes an enzyme responsible for this post-translational modification. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream RAB4B (RAB4B, member RAS oncogene family) gene. [provided by RefSeq, Feb 2011]
EGLN3	chr14	33924231	34462774	-	ENSG00000129521.13	protein_coding	HIFP4H3|HIFPH3|PHD3	14q13.1	egl-9 family hypoxia inducible factor 3	Broad expression in skin (RPKM 31.3), heart (RPKM 27.7) and 16 other tissues
EGR1	chr5	138465490	138469315	+	ENSG00000120738.7	protein_coding	AT225|G0S30|KROX-24|NGFI-A|TIS8|ZIF-268|ZNF225	5q31.2	early growth response 1	The protein encoded by this gene belongs to the EGR family of C2H2-type zinc-finger proteins. It is a nuclear protein and functions as a transcriptional regulator. The products of target genes it activates are required for differentitation and mitogenesis. Studies suggest this is a cancer suppressor gene. [provided by RefSeq, Dec 2014]
EGR2	chr10	62811996	62919900	-	ENSG00000122877.15	protein_coding	AT591|CHN1|CMT1D|CMT4E|KROX20	10q21.3	early growth response 2	The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
EGR3	chr8	22687659	22693302	-	ENSG00000179388.8	protein_coding	EGR-3|PILOT	8p21.3	early growth response 3	This gene encodes a transcriptional regulator that belongs to the EGR family of C2H2-type zinc-finger proteins. It is an immediate-early growth response gene which is induced by mitogenic stimulation. The protein encoded by this gene participates in the transcriptional regulation of genes in controling biological rhythm. It may also play a role in a wide variety of processes including muscle development, lymphocyte development, endothelial cell growth and migration, and neuronal development. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2010]
EHBP1	chr2	62673851	63046487	+	ENSG00000115504.14	protein_coding	HPC12|NACSIN	2p15	EH domain binding protein 1	This gene encodes an Eps15 homology domain binding protein. The encoded protein may play a role in endocytic trafficking. A single nucleotide polymorphism in this gene is associated with an aggressive form of prostate cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
EHBP1L1	chr11	65576038	65592650	+	ENSG00000173442.12	protein_coding	-	11q13.1	EH domain binding protein 1 like 1	-
EHD1	chr11	64851642	64888296	-	ENSG00000110047.17	protein_coding	H-PAST|HPAST1|PAST|PAST1	11q13.1	EH domain containing 1	This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
EHD2	chr19	47713343	47743134	+	ENSG00000024422.11	protein_coding	PAST2	19q13.33	EH domain containing 2	This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a C-terminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipartite nuclear localization signal. The encoded protein interacts with the actin cytoskeleton through an N-terminal domain and also binds to an EH domain-binding protein through the C-terminal EH domain. This interaction appears to connect clathrin-dependent endocytosis to actin, suggesting that this gene product participates in the endocytic pathway. [provided by RefSeq, Jul 2008]
EHD3	chr2	31234337	31269447	+	ENSG00000013016.15	protein_coding	PAST3	2p23.1	EH domain containing 3	Broad expression in brain (RPKM 25.4), esophagus (RPKM 14.7) and 17 other tissues
EHD4	chr15	41895939	41972578	-	ENSG00000103966.10	protein_coding	PAST4	15q15.1	EH domain containing 4	Ubiquitous expression in urinary bladder (RPKM 15.6), gall bladder (RPKM 14.3) and 25 other tissues
EHHADH	chr3	185190624	185281990	-	ENSG00000113790.10	protein_coding	ECHD|FRTS3|L-PBE|LBFP|LBP|MFE1|PBFE	3q27.2	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	The protein encoded by this gene is a bifunctional enzyme and is one of the four enzymes of the peroxisomal beta-oxidation pathway. The N-terminal region of the encoded protein contains enoyl-CoA hydratase activity while the C-terminal region contains 3-hydroxyacyl-CoA dehydrogenase activity. Defects in this gene are a cause of peroxisomal disorders such as Zellweger syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
EHMT1	chr9	137618963	137870016	+	ENSG00000181090.19	protein_coding	EHMT1-IT1|EUHMTASE1|Eu-HMTase1|FP13812|GLP|GLP1|KLEFS1|KMT1D	9q34.3	euchromatic histone lysine methyltransferase 1	The protein encoded by this gene is a histone methyltransferase that methylates the lysine-9 position of histone H3. This action marks the genomic region packaged with these methylated histones for transcriptional repression. This protein may be involved in the silencing of MYC- and E2F-responsive genes and therefore could play a role in the G0/G1 cell cycle transition. Defects in this gene are a cause of chromosome 9q subtelomeric deletion syndrome (9q-syndrome, also known as Kleefstra syndrome). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2017]
EHMT2	chr6	31879759	31897687	-	ENSG00000204371.11	protein_coding	BAT8|C6orf30|G9A|GAT8|KMT1C|NG36	6p21.33	euchromatic histone lysine methyltransferase 2	This gene encodes a methyltransferase that methylates lysine residues of histone H3. Methylation of H3 at lysine 9 by this protein results in recruitment of additional epigenetic regulators and repression of transcription. This gene was initially thought to be two different genes, NG36 and G9a, adjacent to each other in the HLA locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
EI24	chr11	125569216	125584687	+	ENSG00000149547.14	protein_coding	EPG4|PIG8|TP53I8	11q24.2	EI24 autophagy associated transmembrane protein	This gene encodes a putative tumor suppressor and has higher expression in p53-expressing cells than in control cells and is an immediate-early induction target of p53-mediated apoptosis. The encoded protein may suppress cell growth by inducing apoptotic cell death through the caspase 9 and mitochondrial pathways. This gene is located on human chromosome 11q24, a region frequently altered in cancers. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, 7, and 8. [provided by RefSeq, Feb 2014]
EID1	chr15	48877886	48880183	+	ENSG00000255302.4	protein_coding	C15orf3|CRI1|EID-1|IRO45620|PNAS-22|PTD014|RBP21	15q21.1	EP300 interacting inhibitor of differentiation 1	-
EID2	chr19	39538705	39540333	-	ENSG00000176396.10	protein_coding	CRI2|EID-2	19q13.2	EP300 interacting inhibitor of differentiation 2	Enables SMAD binding activity. Involved in several processes, including negative regulation of transcription, DNA-templated; negative regulation of transforming growth factor beta receptor signaling pathway; and transmembrane receptor protein serine/threonine kinase signaling pathway. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
EID2B	chr19	39530990	39532854	-	ENSG00000176401.5	protein_coding	EID-2B|EID-3	19q13.2	EP300 interacting inhibitor of differentiation 2B	-
EIF1	chr17	41688885	41692668	+	ENSG00000173812.10	protein_coding	A121|EIF-1|EIF1A|ISO1|SUI1	17q21.2	eukaryotic translation initiation factor 1	Ubiquitous expression in bone marrow (RPKM 681.9), fat (RPKM 274.0) and 25 other tissues
EIF1AD	chr11	65996545	66002176	-	ENSG00000175376.8	protein_coding	OBELIX|haponin	11q13.1	eukaryotic translation initiation factor 1A domain containing	Ubiquitous expression in bone marrow (RPKM 7.6), testis (RPKM 6.0) and 25 other tissues
EIF1AXP1	chr1	16685621	16686055	-	ENSG00000236698.1	processed_pseudogene	EIF1AP1	1p36.13	EIF1AX pseudogene 1	-
EIF1B	chr3	40309684	40312424	+	ENSG00000114784.3	protein_coding	GC20	3p22.1	eukaryotic translation initiation factor 1B	Ubiquitous expression in heart (RPKM 113.1), bone marrow (RPKM 72.6) and 25 other tissues
EIF2A	chr3	150546678	150584242	+	ENSG00000144895.11	protein_coding	CDA02|EIF-2A|MST089|MSTP004|MSTP089	3q25.1	eukaryotic translation initiation factor 2A	This gene encodes a eukaryotic translation initiation factor that catalyzes the formation of puromycin-sensitive 80 S preinitiation complexes and the poly(U)-directed synthesis of polyphenylalanine at low concentrations of Mg2+. This gene should not be confused with eIF2-alpha (EIF2S1, Gene ID: 1965), the alpha subunit of the eIF2 translation initiation complex. Although both of these proteins function in binding initiator tRNA to the 40 S ribosomal subunit, the encoded protein does so in a codon-dependent manner, whereas eIF2 complex requires GTP. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
EIF2AK1	chr7	6022244	6059230	-	ENSG00000086232.12	protein_coding	HCR|HRI|LEMSPAD|hHRI	7p22.1	eukaryotic translation initiation factor 2 alpha kinase 1	The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
EIF2AK2	chr2	37099210	37157065	-	ENSG00000055332.16	protein_coding	EIF2AK1|LEUDEN|PKR|PPP1R83|PRKR	2p22.2	eukaryotic translation initiation factor 2 alpha kinase 2	The protein encoded by this gene is a serine/threonine protein kinase that is activated by autophosphorylation after binding to dsRNA. The activated form of the encoded protein can phosphorylate translation initiation factor EIF2S1, which in turn inhibits protein synthesis. This protein is also activated by manganese ions and heparin. The encoded protein plays an important role in the innate immune response against multiple DNA and RNA viruses. [provided by RefSeq, Jul 2021]
EIF2AK3	chr2	88556741	88627576	-	ENSG00000172071.11	protein_coding	PEK|PERK|WRS	2p11.2	eukaryotic translation initiation factor 2 alpha kinase 3	The protein encoded by this gene phosphorylates the alpha subunit of eukaryotic translation-initiation factor 2, leading to its inactivation, and thus to a rapid reduction of translational initiation and repression of global protein synthesis. This protein is thought to modulate mitochondrial function. It is a type I membrane protein located in the endoplasmic reticulum (ER), where it is induced by ER stress caused by malfolded proteins. Mutations in this gene are associated with Wolcott-Rallison syndrome. [provided by RefSeq, Sep 2015]
EIF2AK4	chr15	39934146	40035591	+	ENSG00000128829.11	protein_coding	GCN2|PVOD2	15q15.1	eukaryotic translation initiation factor 2 alpha kinase 4	This gene encodes a member of a family of kinases that phosphorylate the alpha subunit of eukaryotic translation initiation factor-2 (EIF2), resulting in the downregulaton of protein synthesis. The encoded protein responds to amino acid deprivation by binding uncharged transfer RNAs. It may also be activated by glucose deprivation and viral infection. Mutations in this gene have been found in individuals suffering from autosomal recessive pulmonary venoocclusive-disease-2. [provided by RefSeq, Mar 2014]
EIF2B1	chr12	123620406	123633766	-	ENSG00000111361.12	protein_coding	EIF2B|EIF2BA	12q24.31	eukaryotic translation initiation factor 2B subunit alpha	This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Oct 2009]
EIF2B2	chr14	75002911	75012366	+	ENSG00000119718.10	protein_coding	EIF-2Bbeta|EIF2B	14q24.3	eukaryotic translation initiation factor 2B subunit beta	This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq, Aug 2011]
EIF2B3	chr1	44850522	44986722	-	ENSG00000070785.16	protein_coding	EIF-2B|EIF2Bgamma	1p34.1	eukaryotic translation initiation factor 2B subunit gamma	The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
EIF2B4	chr2	27364352	27370486	-	ENSG00000115211.15	protein_coding	EIF-2B|EIF2B|EIF2Bdelta	2p23.3	eukaryotic translation initiation factor 2B subunit delta	Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
EIF2B5	chr3	184135038	184145311	+	ENSG00000145191.12	protein_coding	CACH|CLE|EIF-2B|EIF2Bepsilon|LVWM	3q27.1	eukaryotic translation initiation factor 2B subunit epsilon	This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009]
EIF2D	chr1	206571292	206612463	-	ENSG00000143486.15	protein_coding	HCA56|LGTN	1q32.1	eukaryotic translation initiation factor 2D	This gene encodes a translation initiation factor involved in the recruitment and delivery of aminoacyl-tRNAs to the P-site of the eukaryotic ribosome in a GTP-independent manner. This gene was previously referred to as ligatin, but is now known to localize to the cytoplasm and localize and function with translation factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
EIF2S1	chr14	67359997	67386516	+	ENSG00000134001.12	protein_coding	EIF-2|EIF-2A|EIF-2alpha|EIF2|EIF2A	14q23.3	eukaryotic translation initiation factor 2 subunit alpha	The translation initiation factor EIF2 catalyzes the first regulated step of protein synthesis initiation, promoting the binding of the initiator tRNA to 40S ribosomal subunits. Binding occurs as a ternary complex of methionyl-tRNA, EIF2, and GTP. EIF2 is composed of 3 nonidentical subunits, the 36-kD EIF2-alpha subunit (EIF2S1), the 38-kD EIF2-beta subunit (EIF2S2; MIM 603908), and the 52-kD EIF2-gamma subunit (EIF2S3; MIM 300161). The rate of formation of the ternary complex is modulated by the phosphorylation state of EIF2-alpha (Ernst et al., 1987 [PubMed 2948954]).[supplied by OMIM, Feb 2010]
EIF2S2	chr20	34088298	34112332	-	ENSG00000125977.6	protein_coding	EIF2|EIF2B|EIF2beta|PPP1R67|eIF-2-beta	20q11.22	eukaryotic translation initiation factor 2 subunit beta	Eukaryotic translation initiation factor 2 (EIF-2) functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA and binding to a 40S ribosomal subunit. EIF-2 is composed of three subunits, alpha, beta, and gamma, with the protein encoded by this gene representing the beta subunit. The beta subunit catalyzes the exchange of GDP for GTP, which recycles the EIF-2 complex for another round of initiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
EIF2S2P3	chr10	92668745	92669743	-	ENSG00000236493.2	processed_pseudogene	-	10q23.33	eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 3	-
EIF3A	chr10	119033670	119080823	-	ENSG00000107581.12	protein_coding	EIF3|EIF3S10|P167|TIF32|eIF3-p170|eIF3-theta|p180|p185	10q26.11	eukaryotic translation initiation factor 3 subunit A	Ubiquitous expression in thyroid (RPKM 51.4), fat (RPKM 50.1) and 25 other tissues
EIF3B	chr7	2354086	2380745	+	ENSG00000106263.17	protein_coding	EIF3-ETA|EIF3-P110|EIF3-P116|EIF3S9|PRT1	7p22.3	eukaryotic translation initiation factor 3 subunit B	Ubiquitous expression in testis (RPKM 39.5), bone marrow (RPKM 32.1) and 25 other tissues
EIF3C	chr16	28688558	28735730	+	ENSG00000184110.14	protein_coding	EIF3CL|EIF3S8|eIF3-p110	16p11.2	eukaryotic translation initiation factor 3 subunit C	Ubiquitous expression in ovary (RPKM 96.4), thyroid (RPKM 93.0) and 25 other tissues
EIF3CL	chr16	28379579	28403879	-	ENSG00000205609.12	protein_coding	-	16p12.1	eukaryotic translation initiation factor 3 subunit C like	Ubiquitous expression in ovary (RPKM 103.1), thyroid (RPKM 97.8) and 25 other tissues
EIF3E	chr8	108201216	108435333	-	ENSG00000104408.9	protein_coding	EIF3-P48|EIF3S6|INT6|eIF3-p46	8q23.1	eukaryotic translation initiation factor 3 subunit E	Ubiquitous expression in ovary (RPKM 226.7), lymph node (RPKM 138.2) and 25 other tissues
EIF3F	chr11	7970251	8001862	+	ENSG00000175390.13	protein_coding	EIF3S5|MRT67|eIF3-p47	11p15.4	eukaryotic translation initiation factor 3 subunit F	Ubiquitous expression in ovary (RPKM 140.6), lymph node (RPKM 83.6) and 25 other tissues
EIF3FP3	chr2	58251440	58252525	+	ENSG00000233426.3	processed_pseudogene	-	2p16.1	eukaryotic translation initiation factor 3 subunit F pseudogene 3	-
EIF3G	chr19	10115017	10119918	-	ENSG00000130811.11	protein_coding	EIF3-P42|EIF3S4|eIF3-delta|eIF3-p44	19p13.2	eukaryotic translation initiation factor 3 subunit G	This gene encodes a core subunit of the eukaryotic translation initiation factor 3 (eIF3) complex, which is required for initiation of protein translation. An N-terminal caspase cleavage product of the encoded protein may stimulate degradation of DNA. A mutation in this gene is associated with narcolepsy. [provided by RefSeq, Jul 2016]
EIF3H	chr8	116642130	116766925	-	ENSG00000147677.10	protein_coding	EIF3S3|eIF3-gamma|eIF3-p40	8q23.3-q24.11	eukaryotic translation initiation factor 3 subunit H	Ubiquitous expression in ovary (RPKM 170.8), thyroid (RPKM 126.9) and 25 other tissues
EIF3I	chr1	32221928	32231604	+	ENSG00000084623.11	protein_coding	EIF3S2|PRO2242|TRIP-1|TRIP1|eIF3-beta|eIF3-p36	1p35.2	eukaryotic translation initiation factor 3 subunit I	Ubiquitous expression in thyroid (RPKM 51.3), ovary (RPKM 48.1) and 25 other tissues
EIF3J	chr15	44537057	44563029	+	ENSG00000104131.12	protein_coding	EIF3S1|eIF3-alpha|eIF3-p35	15q21.1	eukaryotic translation initiation factor 3 subunit J	This gene encodes a core subunit of the eukaryotic initiation factor 3 complex, which participates in the initiation of translation by aiding in the recruitment of protein and mRNA components to the 40S ribosome. There are pseudogenes for this gene on chromosomes 1, 3, and 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]
EIF3K	chr19	38619082	38636955	+	ENSG00000178982.9	protein_coding	ARG134|EIF3-p28|EIF3S12|HSPC029|M9|MSTP001|PLAC-24|PLAC24|PRO1474|PTD001	19q13.2	eukaryotic translation initiation factor 3 subunit K	The 700-kD eukaryotic translation initiation factor-3 (eIF3) is the largest eIF and contains at least 12 subunits, including EIF2S12. eIF3 plays an essential role in translation by binding directly to the 40S ribosomal subunit and promoting formation of the 40S preinitiation complex (Mayeur et al., 2003 [PubMed 14519125]).[supplied by OMIM, Mar 2008]
EIF3KP1	chr5	103032376	103033031	+	ENSG00000175749.11	processed_pseudogene	-	5q21.1	eukaryotic translation initiation factor 3 subunit K pseudogene 1	-
EIF3KP2	chr3	24555834	24556459	+	ENSG00000233544.1	processed_pseudogene	-	3p24.2	eukaryotic translation initiation factor 3 subunit K pseudogene 2	-
EIF3L	chr22	37848868	37889407	+	ENSG00000100129.17	protein_coding	EIF3EIP|EIF3S11|EIF3S6IP|HSPC021|HSPC025|MSTP005	22q13.1	eukaryotic translation initiation factor 3 subunit L	Ubiquitous expression in ovary (RPKM 248.8), thyroid (RPKM 164.0) and 25 other tissues
EIF3M	chr11	32583798	32606262	+	ENSG00000149100.12	protein_coding	B5|GA17|PCID1|TANGO7|hfl-B5	11p13	eukaryotic translation initiation factor 3 subunit M	This gene encodes a protein that is part of the eurkaryotic translation initiation factor 3 complete (eIF-3) required for protein synthesis. Elevated levels of the encoded protein are present in cancer cell lines. Inactivation of the encoded protein has been shown to interfere with translation of herpes virus mRNAs by preventing the association of mRNAs with the ribosomes. A pseudogene of this gene is located on the X chromosome. [provided by RefSeq, Dec 2011]
EIF4A1	chr17	7572706	7579005	+	ENSG00000161960.14	protein_coding	DDX2A|EIF-4A|EIF4A|eIF-4A-I|eIF4A-I	17p13.1	eukaryotic translation initiation factor 4A1	Ubiquitous expression in appendix (RPKM 182.3), bone marrow (RPKM 177.5) and 25 other tissues
EIF4A1P5	chr13	36938400	36939494	-	ENSG00000226161.1	processed_pseudogene	-	13q13.3	eukaryotic translation initiation factor 4A1 pseudogene 5	-
EIF4A2	chr3	186783205	186789900	+	ENSG00000156976.16	protein_coding	BM-010|DDX2B|EIF4A|EIF4F|eIF-4A-II|eIF4A-II	3q27.3	eukaryotic translation initiation factor 4A2	Ubiquitous expression in ovary (RPKM 426.9), brain (RPKM 313.7) and 25 other tissues
EIF4A3	chr17	80135214	80147183	-	ENSG00000141543.9	protein_coding	DDX48|Fal1|MUK34|NMP265|NUK34|RCPS|eIF-4A-III|eIF4A-III|eIF4AIII	17q25.3	eukaryotic translation initiation factor 4A3	This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a nuclear matrix protein. Its amino acid sequence is highly similar to the amino acid sequences of the translation initiation factors eIF4AI and eIF4AII, two other members of the DEAD box protein family. [provided by RefSeq, Jul 2008]
EIF4B	chr12	53006158	53042209	+	ENSG00000063046.17	protein_coding	EIF-4B|PRO1843	12q13.13	eukaryotic translation initiation factor 4B	Ubiquitous expression in ovary (RPKM 285.6), thyroid (RPKM 146.6) and 25 other tissues
EIF4E	chr4	98871684	98930637	-	ENSG00000151247.12	protein_coding	AUTS19|CBP|EIF4E1|EIF4EL1|EIF4F|eIF-4E	4q23	eukaryotic translation initiation factor 4E	The protein encoded by this gene is a component of the eukaryotic translation initiation factor 4F complex, which recognizes the 7-methylguanosine cap structure at the 5 end of messenger RNAs. The encoded protein aids in translation initiation by recruiting ribosomes to the 5-cap structure. Association of this protein with the 4F complex is the rate-limiting step in translation initiation. This gene acts as a proto-oncogene, and its expression and activation is associated with transformation and tumorigenesis. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
EIF4E2	chr2	232550052	232583644	+	ENSG00000135930.13	protein_coding	4E-LP|4EHP|EIF4EL3|IF4e|h4EHP	2q37.1	eukaryotic translation initiation factor 4E family member 2	Ubiquitous expression in kidney (RPKM 16.4), colon (RPKM 13.5) and 25 other tissues
EIF4E3	chr3	71675416	71754773	-	ENSG00000163412.12	protein_coding	eIF-4E3|eIF4E-3	3p13	eukaryotic translation initiation factor 4E family member 3	EIF4E3 belongs to the EIF4E family of translational initiation factors that interact with the 5-prime cap structure of mRNA and recruit mRNA to the ribosome (Joshi et al., 2004 [PubMed 15153109]).[supplied by OMIM, Mar 2008]
EIF4EBP1	chr8	38030341	38060365	+	ENSG00000187840.4	protein_coding	4E-BP1|4EBP1|BP-1|PHAS-I	8p11.23	eukaryotic translation initiation factor 4E binding protein 1	This gene encodes one member of a family of translation repressor proteins. The protein directly interacts with eukaryotic translation initiation factor 4E (eIF4E), which is a limiting component of the multisubunit complex that recruits 40S ribosomal subunits to the 5 end of mRNAs. Interaction of this protein with eIF4E inhibits complex assembly and represses translation. This protein is phosphorylated in response to various signals including UV irradiation and insulin signaling, resulting in its dissociation from eIF4E and activation of mRNA translation. [provided by RefSeq, Jul 2008]
EIF4EBP2	chr10	70404379	70428618	+	ENSG00000148730.6	protein_coding	4EBP2|PHASII	10q22.1	eukaryotic translation initiation factor 4E binding protein 2	This gene encodes a member of the eukaryotic translation initiation factor 4E binding protein family. The gene products of this family bind eIF4E and inhibit translation initiation. However, insulin and other growth factors can release this inhibition via a phosphorylation-dependent disruption of their binding to eIF4E. Regulation of protein production through these gene products have been implicated in cell proliferation, cell differentiation and viral infection. [provided by RefSeq, Oct 2008]
EIF4EBP3	chr5	140547666	140549578	+	ENSG00000243056.1	protein_coding	4E-BP3|4EBP3	5q31.3	eukaryotic translation initiation factor 4E binding protein 3	This gene encodes a member of the EIF4EBP family, which consists of proteins that bind to eukaryotic translation initiation factor 4E and regulate its assembly into EIF4F, the multi-subunit translation initiation factor that recognizes the mRNA cap structure. Read-through transcription from the neighboring upstream gene (MASK or ANKHD1) generates a transcript (MASK-BP3) that encodes a protein comprised of the MASK protein sequence for the majority of the protein and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments. [provided by RefSeq, Oct 2010]
EIF4ENIF1	chr22	31436977	31496108	-	ENSG00000184708.17	protein_coding	4E-T|Clast4	22q12.2	eukaryotic translation initiation factor 4E nuclear import factor 1	The protein encoded by this gene is a nucleocytoplasmic shuttle protein for the translation initiation factor eIF4E. This shuttle protein interacts with the importin alpha-beta complex to mediate nuclear import of eIF4E. It is predominantly cytoplasmic; its own nuclear import is regulated by a nuclear localization signal and nuclear export signals. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
EIF4G2	chr11	10797050	10809110	-	ENSG00000110321.16	protein_coding	AAG1|DAP5|NAT1|P97	11p15.4	eukaryotic translation initiation factor 4 gamma 2	Translation initiation is mediated by specific recognition of the cap structure by eukaryotic translation initiation factor 4F (eIF4F), which is a cap binding protein complex that consists of three subunits: eIF4A, eIF4E and eIF4G. The protein encoded by this gene shares similarity with the C-terminal region of eIF4G that contains the binding sites for eIF4A and eIF3; eIF4G, in addition, contains a binding site for eIF4E at the N-terminus. Unlike eIF4G, which supports cap-dependent and independent translation, this gene product functions as a general repressor of translation by forming translationally inactive complexes. In vitro and in vivo studies indicate that translation of this mRNA initiates exclusively at a non-AUG (GUG) codon. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]
EIF4G3	chr1	20806292	21176888	-	ENSG00000075151.20	protein_coding	eIF-4G 3|eIF4G 3|eIF4GII	1p36.12	eukaryotic translation initiation factor 4 gamma 3	The protein encoded by this gene is thought to be part of the eIF4F protein complex, which is involved in mRNA cap recognition and transport of mRNAs to the ribosome. Interestingly, a microRNA (miR-520c-3p) has been found that negatively regulates synthesis of the encoded protein, and this leads to a global decrease in protein translation and cell proliferation. Therefore, this protein is a key component of the anti-tumor activity of miR-520c-3p. [provided by RefSeq, May 2016]
EIF4H	chr7	74174245	74197101	+	ENSG00000106682.14	protein_coding	WBSCR1|WSCR1|eIF-4H	7q11.23	eukaryotic translation initiation factor 4H	This gene encodes one of the translation initiation factors, which functions to stimulate the initiation of protein synthesis at the level of mRNA utilization. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
EIF5	chr14	103333544	103345025	+	ENSG00000100664.10	protein_coding	EIF-5|EIF-5A	14q32.32	eukaryotic translation initiation factor 5	Eukaryotic translation initiation factor-5 (EIF5) interacts with the 40S initiation complex to promote hydrolysis of bound GTP with concomitant joining of the 60S ribosomal subunit to the 40S initiation complex. The resulting functional 80S ribosomal initiation complex is then active in peptidyl transfer and chain elongations (summary by Si et al., 1996 [PubMed 8663286]).[supplied by OMIM, May 2010]
EIF5A	chr17	7306999	7312463	+	ENSG00000132507.17	protein_coding	EIF-5A|EIF5A1|FABAS|eIF-4D|eIF5AI	17p13.1	eukaryotic translation initiation factor 5A	Ubiquitous expression in esophagus (RPKM 53.8), appendix (RPKM 49.4) and 25 other tissues
EIF5A2	chr3	170888415	170908693	-	ENSG00000163577.7	protein_coding	EIF-5A2|eIF5AII	3q26.2	eukaryotic translation initiation factor 5A2	Ubiquitous expression in brain (RPKM 2.4), testis (RPKM 2.3) and 25 other tissues
EIF5AL1	chr10	79512601	79516440	+	ENSG00000253626.3	protein_coding	EIF5A|EIF5AP1|bA342M3.3|eIF-4D|eIF-5A|eIF-5A-1|eIF-5A1	10q22.3	eukaryotic translation initiation factor 5A like 1	-
EIF5AP3	chr19	45128569	45129030	+	ENSG00000267346.1	processed_pseudogene	-	19q13.32	eukaryotic translation initiation factor 5A pseudogene 3	-
EIF5B	chr2	99337353	99401326	+	ENSG00000158417.10	protein_coding	IF2	2q11.2	eukaryotic translation initiation factor 5B	Accurate initiation of translation in eukaryotes is complex and requires many factors, some of which are composed of multiple subunits. The process is simpler in prokaryotes which have only three initiation factors (IF1, IF2, IF3). Two of these factors are conserved in eukaryotes: the homolog of IF1 is eIF1A and the homolog of IF2 is eIF5B. This gene encodes eIF5B. Factors eIF1A and eIF5B interact on the ribosome along with other initiation factors and GTP to position the initiation methionine tRNA on the start codon of the mRNA so that translation initiates accurately. [provided by RefSeq, Jul 2008]
EIF6	chr20	35278907	35284985	-	ENSG00000242372.6	protein_coding	CAB|EIF3A|ITGB4BP|b(2)gcn|eIF-6|p27(BBP)|p27BBP	20q11.22	eukaryotic translation initiation factor 6	Hemidesmosomes are structures which link the basal lamina to the intermediate filament cytoskeleton. An important functional component of hemidesmosomes is the integrin beta-4 subunit (ITGB4), a protein containing two fibronectin type III domains. The protein encoded by this gene binds to the fibronectin type III domains of ITGB4 and may help link ITGB4 to the intermediate filament cytoskeleton. The encoded protein, which is insoluble and found both in the nucleus and in the cytoplasm, can function as a translation initiation factor and prevent the association of the 40S and 60S ribosomal subunits. Multiple non-protein coding transcript variants and variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
EIPR1	chr2	 3188970	3377818	-	ENSG00000032389	protein-coding	EIPR-1|TSSC1	2p25.3	EARP complex and GARP complex interacting protein 1	This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alignment of this gene to genomic sequence data suggests that this gene resides on chromosome 2 rather than chromosome 11. [provided by RefSeq, Dec 2008]
ELAC1	chr18	50967991	50988121	+	ENSG00000141642.8	protein_coding	D29	18q21.2	elaC ribonuclease Z 1	Predicted to enable 3-tRNA processing endoribonuclease activity. Predicted to be involved in tRNA 3-trailer cleavage, endonucleolytic. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
ELAC2	chr17	12992391	13018187	-	ENSG00000006744.18	protein_coding	COXPD17|ELC2|HPC2	17p12	elaC ribonuclease Z 2	The protein encoded by this gene has a C-terminal domain with tRNA 3&#8242; processing endoribonuclease activity, which catalyzes the removal of the 3 trailer from precursor tRNAs. The protein also interacts with activated Smad family member 2 (Smad2) and its nuclear partner forkhead box H1 (also known as FAST-1), and reduced expression can suppress transforming growth factor-beta induced growth arrest. Mutations in this gene result in an increased risk of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
ELANE	chr19	851014	856247	+	ENSG00000197561.6	protein_coding	ELA2|GE|HLE|HNE|NE|PMN-E|SCN1	19p13.3	elastase, neutrophil expressed	Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode structurally similar proteins. The encoded preproprotein is proteolytically processed to generate the active protease. Following activation, this protease hydrolyzes proteins within specialized neutrophil lysosomes, called azurophil granules, as well as proteins of the extracellular matrix. The enzyme may play a role in degenerative and inflammatory diseases through proteolysis of collagen-IV and elastin. This protein also degrades the outer membrane protein A (OmpA) of E. coli as well as the virulence factors of such bacteria as Shigella, Salmonella and Yersinia. Mutations in this gene are associated with cyclic neutropenia and severe congenital neutropenia (SCN). This gene is present in a gene cluster on chromosome 19. [provided by RefSeq, Jan 2016]
ELAPOR1	chr1	 109114115	109206781	+	ENSG00000116299	protein-coding	EIG121|KIAA1324	1p13.3	endosome-lysosome associated apoptosis and autophagy regulator 1	-
ELAPOR2	chr7	 86876906	87059654	-	ENSG00000164659	protein-coding	EIG121L|KIAA1324L	7q21.12	endosome-lysosome associated apoptosis and autophagy regulator family member 2	-
ELAVL1	chr19	7958579	8005659	-	ENSG00000066044.14	protein_coding	ELAV1|HUR|Hua|MelG	19p13.2	ELAV like RNA binding protein 1	The protein encoded by this gene is a member of the ELAVL family of RNA-binding proteins that contain several RNA recognition motifs, and selectively bind AU-rich elements (AREs) found in the 3 untranslated regions of mRNAs. AREs signal degradation of mRNAs as a means to regulate gene expression, thus by binding AREs, the ELAVL family of proteins play a role in stabilizing ARE-containing mRNAs. This gene has been implicated in a variety of biological processes and has been linked to a number of diseases, including cancer. It is highly expressed in many cancers, and could be potentially useful in cancer diagnosis, prognosis, and therapy. [provided by RefSeq, Sep 2012]
ELAVL2	chr9	23690104	23826337	-	ENSG00000107105.14	protein_coding	HEL-N1|HELN1|HUB	9p21.3	ELAV like RNA binding protein 2	In humans, the ELAV like RNA binding protein gene family has four members (ELAVL1-4). ELAVL RNA binding proteins recognize AU-rich elements in the 3 UTRs of gene transcripts and thereby regulate gene expression post-transcriptionally. The protein encoded by this gene binds to several 3 UTRs, including its own and also that of FOS, ID, and POU5F1. This gene encodes ELAVL2 and, like ELAVL3 and ELAVL4, is expressed specifically in neurons and primarily localizes to the cytoplasm. This protein also forms a cytosolic complex with the normally nuclear-localized ELAVL1 protein. Alternative splicing of this gene results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Jul 2020]
ELAVL3	chr19	11451326	11481046	-	ENSG00000196361.9	protein_coding	HUC|HUCL|PLE21	19p13.2	ELAV like RNA binding protein 3	A member of the ELAVL protein family, ELAV-like 3 is a neural-specific RNA-binding protein which contains three RNP-type RNA recognition motifs. The observation that ELAVL3 is one of several Hu antigens (neuronal-specific RNA-binding proteins) recognized by the anti-Hu serum antibody present in sera from patients with paraneoplastic encephalomyelitis and sensory neuronopathy (PEM/PSN) suggests it has a role in neurogenesis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ELAVL4	chr1	50048014	50203786	+	ENSG00000162374.16	protein_coding	HUD|PNEM	1p33-p32.3	ELAV like RNA binding protein 4	Biased expression in brain (RPKM 9.5), adrenal (RPKM 2.6) and 2 other tissues
ELF1	chr13	40932028	41061440	-	ENSG00000120690.15	protein_coding	EFTUD1|RIA1	13q14.11	E74 like ETS transcription factor 1	This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]
ELF2	chr4	139028112	139177218	-	ENSG00000109381.19	protein_coding	EU32|NERF|NERF-1A|NERF-1B|NERF-1a,b|NERF-2	4q31.1	E74 like ETS transcription factor 2	Ubiquitous expression in testis (RPKM 17.8), bone marrow (RPKM 13.2) and 25 other tissues
ELF3	chr1	202007945	202017188	+	ENSG00000163435.15	protein_coding	EPR-1|ERT|ESE-1|ESX	1q32.1	E74 like ETS transcription factor 3	Biased expression in colon (RPKM 88.6), stomach (RPKM 68.2) and 13 other tissues
ELFN1	chr7	1688119	1747954	+	ENSG00000225968.7	protein_coding	PPP1R28	7p22.3	extracellular leucine rich repeat and fibronectin type III domain containing 1	Broad expression in liver (RPKM 1.3), kidney (RPKM 0.9) and 14 other tissues
ELK2AP	chr14	105672308	105673314	-	ENSG00000213140.3	processed_pseudogene	ELK2|ELK2.1|ELK2P1	14q32.33	ETS transcription factor ELK2A, pseudogene	-
ELK4	chr1	205597556	205631962	-	ENSG00000158711.13	protein_coding	SAP1	1q32.1	ETS transcription factor ELK4	This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum reponse element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is phosphorylated by the kinases, MAPK1 and MAPK8. Several transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
ELL	chr19	18442663	18522127	-	ENSG00000105656.12	protein_coding	C19orf17|ELL1|MEN|PPP1R68	19p13.11	elongation factor for RNA polymerase II	Broad expression in bone marrow (RPKM 9.4), testis (RPKM 9.4) and 25 other tissues
ELL2	chr5	95885098	95962071	-	ENSG00000118985.15	protein_coding	MRCCAT1	5q15	elongation factor for RNA polymerase II 2	Ubiquitous expression in esophagus (RPKM 18.5), salivary gland (RPKM 14.3) and 25 other tissues
ELL3	chr15	43772600	43777543	-	ENSG00000128886.11	protein_coding	-	15q15.3	elongation factor for RNA polymerase II 3	Ubiquitous expression in thyroid (RPKM 75.8), prostate (RPKM 58.8) and 25 other tissues
ELMO1	chr7	36854361	37449249	-	ENSG00000155849.15	protein_coding	CED-12|CED12|ELMO-1	7p14.2-p14.1	engulfment and cell motility 1	This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
ELMO2	chr20	46366049	46432985	-	ENSG00000062598.17	protein_coding	CED-12|CED12|Ced-12A|ELMO-2|VMPI	20q13.12	engulfment and cell motility 2	The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
ELMO3	chr16	67199111	67204029	+	ENSG00000102890.14	protein_coding	CED-12|CED12|ELMO-3	16q22.1	engulfment and cell motility 3	The protein encoded by this gene is similar to a C. elegans protein that functions in phagocytosis of apoptotic cells and in cell migration. Other members of this small family of engulfment and cell motility (ELMO) proteins have been shown to interact with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. [provided by RefSeq, Jul 2008]
ELMOD2	chr4	140524158	140553770	+	ENSG00000179387.9	protein_coding	9830169G11Rik	4q31.1	ELMO domain containing 2	This gene encodes one of six engulfment and motility (ELMO) domain-containing proteins. This gene is thought to play a role in antiviral responses. Mutations in this gene may be involved in the cause of familial idiopathic pulmonary fibrosis. [provided by RefSeq, Sep 2010]
ELMOD3	chr2	85354394	85391752	+	ENSG00000115459.17	protein_coding	DFNA81|DFNB88|LST3|RBED1|RBM29	2p11.2	ELMO domain containing 3	This gene encodes a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and cell motility domain. In rat cochlea, the encoded protein is found in stereocilia, kinocilia and cuticular plate of developing hair cells suggesting a function for this protein in cochlear sensory cells. An allelic variant of this family has been associated with autosomal recessive nonsyndromic deafness-88 in humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
ELN	chr7	74027789	74069907	+	ENSG00000049540.16	protein_coding	ADCL1|SVAS|WBS|WS	7q11.23	elastin	This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017]
ELOA	chr1	23743155	23762059	+	ENSG00000011007.12	protein_coding	SIII|SIII p110|TCEB3|TCEB3A	1p36.11	elongin A	This gene encodes the protein elongin A, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. [provided by RefSeq, Jul 2008]
ELOA-AS1	chr1	23760382	23778287	-	ENSG00000236810.5	antisense	TCEB3-AS1	1p36.11	ELOA antisense RNA 1	Ubiquitous expression in lung (RPKM 18.7), fat (RPKM 14.4) and 25 other tissues
ELOA3DP	chr18	 46962668	46964508	-	ENSG00000288616	pseudogene	ELOA3D|ELOA3L2|TCEB3CL2	18q21.1	elongin A3 family member D, pseudogene	-
ELOB	chr16	2771414	2777297	-	ENSG00000103363.14	protein_coding	SIII|TCEB2	16p13.3	elongin B	This gene encodes the protein elongin B, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. Pseudogenes have been identified on chromosomes 11 and 13. [provided by RefSeq, Aug 2008]
ELOC	chr8	73939169	73972287	-	ENSG00000154582.16	protein_coding	SIII|TCEB1	8q21.11	elongin C	This gene encodes the protein elongin C, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been identified. [provided by RefSeq, Mar 2011]
ELOCP2	chr15	41557027	41557435	+	ENSG00000259838.1	unprocessed_pseudogene	TCEB1P2	15q15.1	elongin C pseudogene 2	-
ELOCP21	chr2	70955899	70956234	-	ENSG00000226186.1	processed_pseudogene	TCEB1P21	2p13.3	elongin C pseudogene 21	-
ELOF1	chr19	11551147	11559236	-	ENSG00000130165.10	protein_coding	ELF1	19p13.2	elongation factor 1	Broad expression in testis (RPKM 39.1), prostate (RPKM 12.1) and 25 other tissues
ELOVL1	chr1	43363397	43368074	-	ENSG00000066322.14	protein_coding	CGI-88|IKSHD|Ssc1	1p34.2	ELOVL fatty acid elongase 1	Ubiquitous expression in skin (RPKM 64.5), esophagus (RPKM 53.9) and 25 other tissues
ELOVL3	chr10	102226328	102229589	+	ENSG00000119915.4	protein_coding	CIG-30|CIG30	10q24.32	ELOVL fatty acid elongase 3	This gene encodes a protein that belongs to the GNS1/SUR4 family. Members of this family play a role in elongation of long chain fatty acids to provide precursors for synthesis of sphingolipids and ceramides. [provided by RefSeq, Jul 2013]
ELOVL4	chr6	79914812	79947580	-	ENSG00000118402.5	protein_coding	ADMD|CT118|ISQMR|SCA34|STGD2|STGD3	6q14.1	ELOVL fatty acid elongase 4	This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]
ELOVL5	chr6	53267398	53349179	-	ENSG00000012660.13	protein_coding	HELO1|SCA38|dJ483K16.1	6p12.1	ELOVL fatty acid elongase 5	This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
ELOVL7	chr5	60751791	60844389	-	ENSG00000164181.13	protein_coding	-	5q12.1	ELOVL fatty acid elongase 7	-
ELP1	chr9	 108867517	108934124	-	ENSG00000070061	protein-coding	DYS|FD|IKAP|IKBKAP|IKI3|TOT1	9q31.3	elongator acetyltransferase complex subunit 1	The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
ELP2	chr18	36129444	36180556	+	ENSG00000134759.13	protein_coding	MRT58|SHINC-2|STATIP1|StIP	18q12.2	elongator acetyltransferase complex subunit 2	The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin. [provided by RefSeq, May 2016]
ELP3	chr8	28089673	28191156	+	ENSG00000134014.16	protein_coding	KAT9	8p21.1	elongator acetyltransferase complex subunit 3	ELP3 is the catalytic subunit of the histone acetyltransferase elongator complex, which contributes to transcript elongation and also regulates the maturation of projection neurons (Creppe et al., 2009 [PubMed 19185337]).[supplied by OMIM, Apr 2009]
ELP4	chr11	31509700	31790328	+	ENSG00000109911.18	protein_coding	AN|AN2|C11orf19|PAX6NEB|PAXNEB|dJ68P15A.1|hELP4	11p13	elongator acetyltransferase complex subunit 4	This gene encodes a component of the six subunit elongator complex, a histone acetyltransferase complex that associates directly with RNA polymerase II during transcriptional elongation. The human gene can partially complement sensitivity phenotypes of yeast ELP4 deletion mutants. This gene has also been associated with Rolandic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
ELP5	chr17	7251416	7259940	+	ENSG00000170291.14	protein_coding	C17orf81|DERP6|HSPC002|MST071|MSTP071	17p13.1	elongator acetyltransferase complex subunit 5	Broad expression in testis (RPKM 39.1), brain (RPKM 8.9) and 24 other tissues
ELP6	chr3	47495640	47513761	-	ENSG00000163832.15	protein_coding	C3orf75|TMEM103	3p21.31	elongator acetyltransferase complex subunit 6	Ubiquitous expression in testis (RPKM 3.4), adrenal (RPKM 3.4) and 25 other tissues
EMB	chr5	50396192	50443248	-	ENSG00000170571.11	protein_coding	GP70	5q11.1	embigin	This gene encodes a transmembrane glycoprotein that is a member of the immunoglobulin superfamily. The encoded protein may be involved in cell growth and development by mediating interactions between the cell and extracellular matrix. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Jan 2009]
EMBP1	chr1	121519112	121571892	+	ENSG00000231752.5	transcribed_unprocessed_pseudogene	-	1p11.2	embigin pseudogene 1	-
EMC1	chr1	19215664	19251552	-	ENSG00000127463.13	protein_coding	CAVIPMR|KIAA0090	1p36.13	ER membrane protein complex subunit 1	This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2012]
EMC2	chr8	108443601	108486918	+	ENSG00000104412.7	protein_coding	KIAA0103|TTC35	8q23.1	ER membrane protein complex subunit 2	Ubiquitous expression in testis (RPKM 34.1), fat (RPKM 27.5) and 25 other tissues
EMC3	chr3	9962537	10011116	-	ENSG00000125037.12	protein_coding	POB|TMEM111	3p25.3	ER membrane protein complex subunit 3	Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Is integral component of endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Apr 2022]
EMC3-AS1	chr3	9986893	10006990	+	ENSG00000180385.8	transcribed_unprocessed_pseudogene	-	3p25.3	EMC3 antisense RNA 1	-
EMC6	chr17	3668815	3669668	+	ENSG00000127774.6	protein_coding	RAB5IFL|TMEM93	17p13.2	ER membrane protein complex subunit 6	Ubiquitous expression in kidney (RPKM 12.0), testis (RPKM 10.6) and 25 other tissues
EMC8	chr16	85771758	85799608	-	ENSG00000131148.8	protein_coding	C16orf2|C16orf4|COX4NB|FAM158B|NOC4	16q24.1	ER membrane protein complex subunit 8	Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in cytosol. Part of EMC complex. [provided by Alliance of Genome Resources, Apr 2022]
EMC9	chr14	24138959	24141588	-	ENSG00000100908.13	protein_coding	C14orf122|CGI-112|FAM158A	14q12	ER membrane protein complex subunit 9	Ubiquitous expression in appendix (RPKM 5.4), duodenum (RPKM 4.9) and 25 other tissues
EMCN	chr4	100395341	100880126	-	ENSG00000164035.9	protein_coding	EMCN2|MUC14	4q24	endomucin	EMCN is a mucin-like sialoglycoprotein that interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix (Kinoshita et al., 2001 [PubMed 11418125]).[supplied by OMIM, Mar 2008]
EMD	chrX	154379197	154381523	+	ENSG00000102119.10	protein_coding	EDMD|LEMD5|STA	Xq28	emerin	Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. [provided by RefSeq, Jul 2008]
EME1	chr17	50373220	50381483	+	ENSG00000154920.14	protein_coding	MMS4L|SLX2A	17q21.33	essential meiotic structure-specific endonuclease 1	This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
EME2	chr16	1773207	1781708	+	ENSG00000197774.12	protein_coding	SLX2B|gs125	16p13.3	essential meiotic structure-specific endonuclease subunit 2	EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]
EMG1	chr12	6970893	6979941	+	ENSG00000126749.14	protein_coding	C2F|Grcc2f|NEP1	12p13.31	EMG1 N1-specific pseudouridine methyltransferase	This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
EMID1	chr22	29205851	29259597	+	ENSG00000186998.15	protein_coding	EMI5|EMU1	22q12.2	EMI domain containing 1	Broad expression in spleen (RPKM 4.8), adrenal (RPKM 3.1) and 21 other tissues
EMILIN1	chr2	27078567	27086408	+	ENSG00000138080.13	protein_coding	EMI|EMILIN|gp115	2p23.3	elastin microfibril interfacer 1	This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009]
EMILIN2	chr18	2847030	2915993	+	ENSG00000132205.10	protein_coding	EMILIN-2|FOAP-10	18p11.32-p11.31	elastin microfibril interfacer 2	Broad expression in placenta (RPKM 19.1), appendix (RPKM 17.1) and 22 other tissues
EMILIN3	chr20	41359966	41366827	-	ENSG00000183798.4	protein_coding	C20orf130|EMILIN5|dJ620E11.4	20q12	elastin microfibril interfacer 3	Ubiquitous expression in ovary (RPKM 6.7), duodenum (RPKM 6.1) and 24 other tissues
EML1	chr14	99737693	99942060	+	ENSG00000066629.16	protein_coding	BH|ELP79|EMAP|EMAP-1|EMAPL	14q32.2	EMAP like 1	Human echinoderm microtubule-associated protein-like is a strong candidate for the Usher syndrome type 1A gene. Usher syndromes (USHs) are a group of genetic disorders consisting of congenital deafness, retinitis pigmentosa, and vestibular dysfunction of variable onset and severity depending on the genetic type. The disease process in USHs involves the entire brain and is not limited to the posterior fossa or auditory and visual systems. The USHs are catagorized as type I (USH1A, USH1B, USH1C, USH1D, USH1E and USH1F), type II (USH2A and USH2B) and type III (USH3). The type I is the most severe form. Gene loci responsible for these three types are all mapped. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
EML2	chr19	45606994	45645629	-	ENSG00000125746.16	protein_coding	ELP70|EMAP-2|EMAP2	19q13.32	EMAP like 2	Ubiquitous expression in esophagus (RPKM 8.7), skin (RPKM 8.5) and 25 other tissues
EML2-AS1	chr19	45641494	45642840	+	ENSG00000267757.4	processed_transcript	C19orf83	19q13.32	EML2 antisense RNA 1	Broad expression in brain (RPKM 1.8), testis (RPKM 1.4) and 20 other tissues
EML3	chr11	62602218	62612765	-	ENSG00000149499.11	protein_coding	ELP95|EMAP3|EMAP95	11q12.3	EMAP like 3	Ubiquitous expression in spleen (RPKM 13.3), fat (RPKM 13.0) and 25 other tissues
EML4	chr2	42169350	42332548	+	ENSG00000143924.18	protein_coding	C2orf2|ELP120|EMAP-4|EMAPL4|ROPP120	2p21	EMAP like 4	This gene is a member of the echinoderm microtubule associated protein-like family. The encoded WD-repeat protein may be involved in microtubule formation. Abnormal fusion of parts of this gene with portions of the anaplastic lymphoma receptor tyrosine kinase gene, which generates EML4-ALK fusion transcripts, is one of the primary mutations associated with non-small cell lung cancer. Alternative splicing of this gene results in two transcript variants. [provided by RefSeq, Jan 2015]
EML5	chr14	88612431	88792752	-	ENSG00000165521.15	protein_coding	EMAP-2|EMAP-5|FAP16	14q31.3	EMAP like 5	Biased expression in ovary (RPKM 10.1), prostate (RPKM 3.2) and 12 other tissues
EML6	chr2	54723499	54972025	+	ENSG00000214595.11	protein_coding	-	2p16.1	EMAP like 6	-
EMP1	chr12	13196716	13219939	+	ENSG00000134531.9	protein_coding	CL-20|EMP-1|TMP	12p13.1	epithelial membrane protein 1	Biased expression in esophagus (RPKM 1426.7), gall bladder (RPKM 194.7) and 2 other tissues
EMP3	chr19	48321509	48330553	+	ENSG00000142227.10	protein_coding	YMP	19q13.33	epithelial membrane protein 3	The protein encoded by this gene belongs to the PMP-22/EMP/MP20 family of proteins. The protein contains four transmembrane domains and two N-linked glycosylation sites. It is thought to be involved in cell proliferation, cell-cell interactions and function as a tumor suppressor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
EMSY	chr11	76444923	76553025	+	ENSG00000158636.16	protein_coding	C11orf30|GL002	11q13.5	EMSY transcriptional repressor, BRCA2 interacting	Ubiquitous expression in testis (RPKM 4.2), ovary (RPKM 4.0) and 25 other tissues
EMX1	chr2	72916260	72936071	+	ENSG00000135638.13	protein_coding	-	2p13.2	empty spiracles homeobox 1	-
EN2	chr7	155458129	155464831	+	ENSG00000164778.4	protein_coding	-	7q36.3	engrailed homeobox 2	Low expression observed in reference dataset
ENAH	chr1	225486835	225653142	-	ENSG00000154380.17	protein_coding	ENA|MENA|NDPP1	1q42.12	ENAH actin regulator	This gene encodes a member of the enabled/ vasodilator-stimulated phosphoprotein. Members of this gene family are involved in actin-based motility. This protein is involved in regulating the assembly of actin filaments and modulates cell adhesion and motility. Alternate splice variants of this gene have been correlated with tumor invasiveness in certain tissues and these variants may serve as prognostic markers. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2016]
ENC1	chr5	74627406	74641424	-	ENSG00000171617.13	protein_coding	CCL28|ENC-1|KLHL35|KLHL37|NRPB|PIG10|TP53I10	5q13.3	ectodermal-neural cortex 1	This gene encodes a member of the kelch-related family of actin-binding proteins. The encoded protein plays a role in the oxidative stress response as a regulator of the transcription factor Nrf2, and expression of this gene may play a role in malignant transformation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
ENDOD1	chr11	95089810	95132645	+	ENSG00000149218.4	protein_coding	-	11q21	endonuclease domain containing 1	-
ENDOG	chr9	128818474	128822677	+	ENSG00000167136.6	protein_coding	-	9q34.11	endonuclease G	Ubiquitous expression in kidney (RPKM 10.6), prostate (RPKM 9.4) and 25 other tissues
ENDOU	chr12	47709734	47725567	-	ENSG00000111405.8	protein_coding	P11|PP11|PRSS26	12q13.11	endonuclease, poly(U) specific	This gene encodes a protein with endoribonuclease activity that binds polyuridine-enriched single-stranded RNA. This gene was initially characterized based on its high expression in placenta but was mischaracterized as a serine protease. In mouse, this gene promotes tolerance to self-antigens by regulating B cell activation-induced cell death (AICD). The protein may be useful as a tumor marker. Multiple alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2020]
ENDOV	chr17	80415165	80438086	+	ENSG00000173818.16	protein_coding	-	17q25.3	endonuclease V	-
ENG	chr9	127815012	127854756	-	ENSG00000106991.13	protein_coding	END|HHT1|ORW1	9q34.11	endoglin	This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and it binds to the beta1 and beta3 peptides with high affinity. Mutations in this gene cause hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome 1, an autosomal dominant multisystemic vascular dysplasia. This gene may also be involved in preeclampsia and several types of cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]
ENKD1	chr16	67662945	67667265	-	ENSG00000124074.11	protein_coding	C16orf48|DAKV6410|FBB11	16q22.1	enkurin domain containing 1	Broad expression in testis (RPKM 10.0), kidney (RPKM 6.5) and 25 other tissues
ENKUR	chr10	24981979	25062279	-	ENSG00000151023.16	protein_coding	C10orf63|CFAP106	10p12.1	enkurin, TRPC channel interacting protein	This gene encodes a protein that interacts with calmodulin and several transient receptor potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize signal transduction machinery to calcium channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
ENO1	chr1	8861002	8879249	-	ENSG00000074800.13	protein_coding	ENO1L1|HEL-S-17|MPB1|NNE|PPH	1p36.23	enolase 1	This gene encodes alpha-enolase, one of three enolase isoenzymes found in mammals. Each isoenzyme is a homodimer composed of 2 alpha, 2 gamma, or 2 beta subunits, and functions as a glycolytic enzyme. Alpha-enolase in addition, functions as a structural lens protein (tau-crystallin) in the monomeric form. Alternative splicing of this gene results in a shorter isoform that has been shown to bind to the c-myc promoter and function as a tumor suppressor. Several pseudogenes have been identified, including one on the long arm of chromosome 1. Alpha-enolase has also been identified as an autoantigen in Hashimoto encephalopathy. [provided by RefSeq, Jan 2011]
ENO1-AS1	chr1	8878835	8879894	+	ENSG00000230679.1	antisense	-	1p36.23	ENO1 antisense RNA 1	-
ENO1-IT1	chr1	8875788	8878007	-	ENSG00000236269.1	sense_intronic	-	1p36.23	ENO1 intronic transcript 1	-
ENO1P4	chr2	201621646	201623430	-	ENSG00000241790.2	processed_pseudogene	-	2q33.1	enolase 1 pseudogene 4	-
ENO3	chr17	4948092	4957131	+	ENSG00000108515.17	protein_coding	GSD13|MSE	17p13.2	enolase 3	This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jul 2010]
ENO4	chr10	116849512	116911788	+	ENSG00000188316.13	protein_coding	C10orf134	10q25.3	enolase 4	Low expression observed in reference dataset
ENOPH1	chr4	82430562	82461091	+	ENSG00000145293.15	protein_coding	E1|MASA|MST145|mtnC	4q21.22	enolase-phosphatase 1	Enables acireductone synthase activity. Involved in L-methionine salvage from methylthioadenosine. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
ENOX1	chr13	43213518	43786908	-	ENSG00000120658.13	protein_coding	CNOX|PIG38|bA64J21.1|cCNOX	13q14.11	ecto-NOX disulfide-thiol exchanger 1	The protein encoded by this gene is involved in plasma membrane electron transport pathways. The encoded protein has both a hydroquinone (NADH) oxidase activity and a protein disulfide-thiol interchange activity. The two activities cycle with a periodicity of 24 minutes, with one activity being at its peak when the other is at its lowest. [provided by RefSeq, Dec 2016]
ENOX2	chrX	130623369	130903317	-	ENSG00000165675.16	protein_coding	APK1|COVA1|tNOX	Xq26.1	ecto-NOX disulfide-thiol exchanger 2	This gene is a tumor-specific member of the ECTO-NOX family of genes that encode cell surface NADH oxidases. The encoded protein has two enzymatic activities: catalysis of hydroquinone or NADH oxidation, and protein disulfide interchange. The protein also displays prion-like properties. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
ENPEP	chr4	110365733	110565285	+	ENSG00000138792.9	protein_coding	APA|CD249|gp160	4q25	glutamyl aminopeptidase	The ENPEP gene encodes glutamyl aminopeptidase, a type II integral membrane protein with an extracellular zinc-binding domain. This protein can upregulate blood pressure by cleaving the N-terminal aspartate from angiotensin II, and can regulate blood vessel formation and enhance tumorigenesis in some tissues. Along with ANPEP and DPP4, ENPEP was found to be a candidate co-receptor for the coronavirus SARS-CoV-2, which causes COVID-19. [provided by RefSeq, Apr 2020]
ENPP1	chr6	131808016	131895155	+	ENSG00000197594.11	protein_coding	ARHR2|COLED|M6S1|NPP1|NPPS|PC-1|PCA1|PDNP1	6q23.2	ectonucleotide pyrophosphatase/phosphodiesterase 1	This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars and pyrophosphate bonds of nucleotides and nucleotide sugars. This protein may function to hydrolyze nucleoside 5 triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. Mutations in this gene have been associated with idiopathic infantile arterial calcification, ossification of the posterior longitudinal ligament of the spine (OPLL), and insulin resistance. [provided by RefSeq, Jul 2008]
ENPP2	chr8	119557086	119673453	-	ENSG00000136960.12	protein_coding	ATX|ATX-X|AUTOTAXIN|LysoPLD|NPP2|PD-IALPHA|PDNP2	8q24.12	ectonucleotide pyrophosphatase/phosphodiesterase 2	The protein encoded by this gene functions as both a phosphodiesterase, which cleaves phosphodiester bonds at the 5 end of oligonucleotides, and a phospholipase, which catalyzes production of lysophosphatidic acid (LPA) in extracellular fluids. LPA evokes growth factor-like responses including stimulation of cell proliferation and chemotaxis. This gene product stimulates the motility of tumor cells and has angiogenic properties, and its expression is upregulated in several kinds of carcinomas. The gene product is secreted and further processed to make the biologically active form. Several alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2008]
ENPP3	chr6	131628442	131747418	+	ENSG00000154269.14	protein_coding	B10|CD203c|NPP3|PD-IBETA|PDNP3	6q23.2	ectonucleotide pyrophosphatase/phosphodiesterase 3	The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the related rat mRNA has been found in a subset of immature glial cells and in the alimentary tract. The corresponding rat protein has been detected in the pancreas, small intestine, colon, and liver. The human mRNA is expressed in glioma cells, prostate, and uterus. Expression of the human protein has been detected in uterus, basophils, and mast cells. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Oct 2015]
ENPP4	chr6	46129993	46146699	+	ENSG00000001561.6	protein_coding	NPP4	6p21.1	ectonucleotide pyrophosphatase/phosphodiesterase 4	Ubiquitous expression in bone marrow (RPKM 15.7), brain (RPKM 14.1) and 24 other tissues
ENPP5	chr6	46159187	46170971	-	ENSG00000112796.9	protein_coding	NPP-5|NPP5	6p21.1	ectonucleotide pyrophosphatase/phosphodiesterase family member 5	This gene encodes a type-I transmembrane glycoprotein. Studies in rat suggest the encoded protein may play a role in neuronal cell communications. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2014]
ENPP7P1	chr8	8154308	8216916	+	ENSG00000249188.1	unprocessed_pseudogene	-	8p23.1	ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 1	-
ENPP7P12	chr8	12205759	12206389	-	ENSG00000254527.1	processed_pseudogene	-	8p23.1	ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 12	-
ENPP7P4	chr3	125848223	125909372	+	ENSG00000241278.1	unprocessed_pseudogene	-	3q21.2	ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 4	-
ENPP7P6	chr8	12448013	12511278	-	ENSG00000255549.2	unprocessed_pseudogene	-	8p23.1	ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 6	-
ENPP7P7	chr11	67812557	67873367	-	ENSG00000273819.1	unprocessed_pseudogene	-	11q13.2	ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 7	-
ENPP7P9	chr4	3967034	3967660	-	ENSG00000250476.1	processed_pseudogene	-	4p16.3	ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 9	-
ENSA	chr1	150600851	150629612	-	ENSG00000143420.18	protein_coding	ARPP-19e	1q21.3	endosulfine alpha	The protein encoded by this gene belongs to a highly conserved cAMP-regulated phosphoprotein (ARPP) family. This protein was identified as an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR1. ABCC8 is the regulatory subunit of the ATP-sensitive potassium (KATP) channel, which is located on the plasma membrane of pancreatic beta cells and plays a key role in the control of insulin release from pancreatic beta cells. This protein is thought to be an endogenous regulator of KATP channels. In vitro studies have demonstrated that this protein modulates insulin secretion through the interaction with KATP channel, and this gene has been proposed as a candidate gene for type 2 diabetes. At least eight alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
ENTPD1	chr10	95711779	95869695	+	ENSG00000138185.18	protein_coding	ATPDase|CD39|NTPDase-1|SPG64	10q24.1	ectonucleoside triphosphate diphosphohydrolase 1	The protein encoded by this gene is a plasma membrane protein that hydrolyzes extracellular ATP and ADP to AMP. Inhibition of this proteins activity may confer anticancer benefits. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
ENTPD2	chr9	137048098	137054045	-	ENSG00000054179.11	protein_coding	CD39L1|NTPDase-2	9q34.3	ectonucleoside triphosphate diphosphohydrolase 2	The protein encoded by this gene is the type 2 enzyme of the ecto-nucleoside triphosphate diphosphohydrolase family (E-NTPDase). E-NTPDases are a family of ecto-nucleosidases that hydrolyze 5-triphosphates. This ecto-ATPase is an integral membrane protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
ENTPD3	chr3	40387156	40428619	+	ENSG00000168032.8	protein_coding	CD39L3|HB6|NTPDase-3	3p22.1	ectonucleoside triphosphate diphosphohydrolase 3	This gene encodes a plasma membrane-bound divalent cation-dependent E-type nucleotidase. The encoded protein is involved in the regulation of extracellular levels of ATP by hydrolysis of it and other nucleotides. Multiple transcript variants have been described. [provided by RefSeq, May 2014]
ENTPD3-AS1	chr3	40313802	40453329	-	ENSG00000223797.5	antisense	-	3p22.1	ENTPD3 antisense RNA 1	-
ENTPD4	chr8	23385783	23457695	-	ENSG00000197217.12	protein_coding	LALP70|LAP70|LYSAL1|NTPDase-4|UDPase	8p21.3	ectonucleoside triphosphate diphosphohydrolase 4	This gene encodes a member of the apyrase protein family. Apyrases are enzymes that catalyze the hydrolysis of nucleotide diphosphates and triphosphates in a calcium or magnesium-dependent manner. The encoded protein is an endo-apyrase and may play a role in salvaging nucleotides from lysosomes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and these isoforms may differ in divalent cation dependence and substrate specificity. [provided by RefSeq, Sep 2011]
ENTPD5	chr14	73958010	74019399	-	ENSG00000187097.12	protein_coding	CD39L4|NTPDase-5|PCPH	14q24.3	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	The protein encoded by this gene is similar to E-type nucleotidases (NTPases)/ecto-ATPase/apyrases. NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD5 contains 4 apyrase-conserved regions which is characteristic of NTPases. [provided by RefSeq, Jan 2009]
ENTPD6	chr20	25195693	25226729	+	ENSG00000197586.12	protein_coding	CD39L2|IL-6SAG|IL6ST2|NTPDase-6|dJ738P15.3	20p11.21	ectonucleoside triphosphate diphosphohydrolase 6	ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which are characteristic of NTPases. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
ENTPD7	chr10	99659506	99706240	+	ENSG00000198018.6	protein_coding	LALP1	10q24.2	ectonucleoside triphosphate diphosphohydrolase 7	This gene encodes a purine-converting ectoenzyme which belongs to the ecto-nucleoside triphosphate diphosphohydrolase (E-NTPDase) family. The encoded protein hydrolyzes extracellular nucleoside triphosphates (UTP, GTP, and CTP) to nucleoside monophosphates as part of a purinergic signaling pathway. It contains two transmembrane domains at the N- and C-termini and a large, hydrophobic catalytic domain located in between. This gene affects oxidative stress as well as DNA damage and is a mediator of senescence. [provided by RefSeq, Mar 2017]
ENTR1	chr9	 136401922	136410614	-	ENSG00000165689	protein-coding	NY-CO-3|SDCCAG3|SDDAG3	9q34.3	endosome associated trafficking regulator 1	Ubiquitous expression in testis (RPKM 13.4), lymph node (RPKM 9.3) and 25 other tissues
ENTR1P1	chr18	 60009785	60011264	-	-	pseudogene	SDCCAG3L|SDCCAG3P1	18q21.32	ENTR1 pseudogene 1	-
ENY2	chr8	109334324	109345953	+	ENSG00000120533.12	protein_coding	DC6|Sus1|e(y)2	8q23.1	ENY2 transcription and export complex 2 subunit	Ubiquitous expression in kidney (RPKM 15.2), bone marrow (RPKM 14.0) and 25 other tissues
EOGT	chr3	68975214	69013961	-	ENSG00000163378.13	protein_coding	AER61|AOS4|C3orf64|EOGT1	3p14.1	EGF domain specific O-linked N-acetylglucosamine transferase	This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
EOMES	chr3	27715949	27722711	-	ENSG00000163508.12	protein_coding	TBR2	3p24.1	eomesodermin	This gene belongs to the TBR1 (T-box brain protein 1) sub-family of T-box genes that share the common DNA-binding T-box domain. The encoded protein is a transcription factor which is crucial for embryonic development of mesoderm and the central nervous system in vertebrates. The protein may also be necessary for the differentiation of effector CD8+ T cells which are involved in defense against viral infections. A similar gene disrupted in mice is shown to be essential during trophoblast development and gastrulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
EP300	chr22	41091786	41180079	+	ENSG00000100393.12	protein_coding	KAT3B|MKHK2|RSTS2|p300	22q13.2	E1A binding protein p300	This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008]
EP300-AS1	chr22	41174591	41197456	-	ENSG00000231993.1	antisense	-	22q13.2	EP300 antisense RNA 1	-
EP400	chr12	131949920	132081102	+	ENSG00000183495.13	protein_coding	CAGH32|P400|TNRC12	12q24.33	E1A binding protein p400	Ubiquitous expression in testis (RPKM 8.1), ovary (RPKM 5.8) and 25 other tissues
EP400P1	chr12	 132084283	132126340	+	ENSG00000185684	pseudogene	EP400NL	12q24.33	EP400 pseudogene 1	Broad expression in testis (RPKM 5.0), spleen (RPKM 1.9) and 25 other tissues
EPAS1	chr2	46293667	46386703	+	ENSG00000116016.13	protein_coding	ECYT4|HIF2A|HLF|MOP2|PASD2|bHLHe73	2p21	endothelial PAS domain protein 1	This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009]
EPB41	chr1	28887091	29120046	+	ENSG00000159023.19	protein_coding	4.1R|EL1|HE	1p35.3	erythrocyte membrane protein band 4.1	The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. This complex plays a critical role in erythrocyte shape and deformability. Mutations in this gene are associated with type 1 elliptocytosis (EL1). Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Oct 2009]
EPB41L1	chr20	36091504	36232799	+	ENSG00000088367.21	protein_coding	4.1N|MRD11	20q11.23	erythrocyte membrane protein band 4.1 like 1	Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
EPB41L2	chr6	130839347	131063322	-	ENSG00000079819.18	protein_coding	4.1-G|4.1G	6q23.1-q23.2	erythrocyte membrane protein band 4.1 like 2	Ubiquitous expression in fat (RPKM 33.9), ovary (RPKM 23.5) and 23 other tissues
EPB41L3	chr18	5392381	5630700	-	ENSG00000082397.17	protein_coding	4.1B|DAL-1|DAL1	18p11.31	erythrocyte membrane protein band 4.1 like 3	Broad expression in brain (RPKM 28.0), testis (RPKM 24.6) and 21 other tissues
EPB41L4A	chr5	112142441	112419316	-	ENSG00000129595.12	protein_coding	EPB41L4|NBL4	5q22.1-q22.2	erythrocyte membrane protein band 4.1 like 4A	The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway. [provided by RefSeq, Dec 2016]
EPB41L4A-DT	chr5	 112419583	112420978	+	ENSG00000278921	ncRNA	EPB41L4A-AS2	5q22.2	EPB41L4A divergent transcript	-
EPB41L5	chr2	120013005	120179119	+	ENSG00000115109.13	protein_coding	BE37|LULU|LULU1|YMO1|YRT	2q14.2	erythrocyte membrane protein band 4.1 like 5	Broad expression in testis (RPKM 10.7), thyroid (RPKM 7.3) and 24 other tissues
EPB42	chr15	43106225	43221283	-	ENSG00000166947.11	protein_coding	PA|SPH5	15q15.2	erythrocyte membrane protein band 4.2	Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
EPC1	chr10	32267751	32378798	-	ENSG00000120616.15	protein_coding	Epl1	10p11.22	enhancer of polycomb homolog 1	This gene encodes a member of the polycomb group (PcG) family. The encoded protein is a component of the NuA4 histone acetyltransferase complex and can act as both a transcriptional activator and repressor. The encoded protein has been linked to apoptosis, DNA repair, skeletal muscle differentiation, gene silencing, and adult T-cell leukemia/lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
EPC2	chr2	148644440	148787568	+	ENSG00000135999.11	protein_coding	EPC-LIKE	2q23.1	enhancer of polycomb homolog 2	Ubiquitous expression in ovary (RPKM 10.6), endometrium (RPKM 9.8) and 25 other tissues
EPCAM	chr2	47345158	47387601	+	ENSG00000119888.10	protein_coding	Ber-Ep4|BerEp4|DIAR5|EGP-2|EGP314|EGP40|ESA|HNPCC8|KS1/4|KSA|M4S1|MIC18|MK-1|MOC-31|TACSTD1|TROP1	2p21	epithelial cell adhesion molecule	This gene encodes a carcinoma-associated antigen and is a member of a family that includes at least two type I membrane proteins. This antigen is expressed on most normal epithelial cells and gastrointestinal carcinomas and functions as a homotypic calcium-independent cell adhesion molecule. The antigen is being used as a target for immunotherapy treatment of human carcinomas. Mutations in this gene result in congenital tufting enteropathy. [provided by RefSeq, Dec 2008]
EPDR1	chr7	37683843	37951941	+	ENSG00000086289.11	protein_coding	EPDR|MERP-1|MERP1|UCC1	7p14.1	ependymin related 1	The protein encoded by this gene is a type II transmembrane protein that is similar to two families of cell adhesion molecules, the protocadherins and ependymins. This protein may play a role in calcium-dependent cell adhesion. This protein is glycosylated, and the orthologous mouse protein is localized to the lysosome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Aug 2011]
EPG5	chr18	45847609	45967274	-	ENSG00000152223.12	protein_coding	HEEW1|KIAA1632|VICIS	18q12.3-q21.1	ectopic P-granules autophagy protein 5 homolog	This gene encodes a large coiled coil domain-containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015]
EPGN	chr4	74308473	74315307	+	ENSG00000182585.9	protein_coding	ALGV3072|EPG|PRO9904	4q13.3	epithelial mitogen	The protein encoded by this gene is a member of the epidermal growth factor family. Members of this family are ligands for the epidermal growth factor receptor and play a role in cell survival, proliferation and migration. This protein has been reported to have high mitogenic activity but low affinity for its receptor. Expression of this transcript and protein have been reported in cancer specimens of the breast, bladder, and prostate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
EPHA1	chr7	143390289	143408892	-	ENSG00000146904.8	protein_coding	EPH|EPHT|EPHT1	7q34-q35	EPH receptor A1	This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene is expressed in some human cancer cell lines and has been implicated in carcinogenesis. [provided by RefSeq, Jul 2008]
EPHA1-AS1	chr7	143407813	143523449	+	ENSG00000229153.5	antisense	-	7q35	EPHA1 antisense RNA 1	-
EPHA10	chr1	37713880	37765133	-	ENSG00000183317.16	protein_coding	-	1p34.3	EPH receptor A10	Biased expression in testis (RPKM 7.0), colon (RPKM 2.9) and 7 other tissues
EPHA2	chr1	16124337	16156087	-	ENSG00000142627.12	protein_coding	ARCC2|CTPA|CTPP1|CTRCT6|ECK	1p36.13	EPH receptor A2	This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Mutations in this gene are the cause of certain genetically-related cataract disorders.[provided by RefSeq, May 2010]
EPHA3	chr3	89107524	89482134	+	ENSG00000044524.10	protein_coding	EK4|ETK|ETK1|HEK|HEK4|TYRO4	3p11.1	EPH receptor A3	This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
EPHA4	chr2	221418027	221574202	-	ENSG00000116106.11	protein_coding	EK8|HEK8|SEK|TYRO1	2q36.1	EPH receptor A4	This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
EPHA7	chr6	93240020	93419547	-	ENSG00000135333.13	protein_coding	EHK-3|EHK3|EK11|HEK11	6q16.1	EPH receptor A7	This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Increased expression of this gene is associated with multiple forms of carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
EPHA8	chr1	22563564	22603594	+	ENSG00000070886.11	protein_coding	EEK|EK3|HEK3	1p36.12	EPH receptor A8	This gene encodes a member of the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. The protein encoded by this gene functions as a receptor for ephrin A2, A3 and A5 and plays a role in short-range contact-mediated axonal guidance during development of the mammalian nervous system. [provided by RefSeq, Jul 2008]
EPHB1	chr3	134597801	135260467	+	ENSG00000154928.16	protein_coding	ELK|EPHT2|Hek6|NET	3q22.2	EPH receptor B1	Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. [provided by RefSeq, Jul 2008]
EPHB2	chr1	22710839	22921500	+	ENSG00000133216.16	protein_coding	BDPLT22|CAPB|DRT|EK5|EPHT3|ERK|Hek5|PCBC|Tyro5	1p36.12	EPH receptor B2	This gene encodes a member of the Eph receptor family of receptor tyrosine kinase transmembrane glycoproteins. These receptors are composed of an N-terminal glycosylated ligand-binding domain, a transmembrane region and an intracellular kinase domain. They bind ligands called ephrins and are involved in diverse cellular processes including motility, division, and differentiation. A distinguishing characteristic of Eph-ephrin signaling is that both receptors and ligands are competent to transduce a signaling cascade, resulting in bidirectional signaling. This protein belongs to a subgroup of the Eph receptors called EphB. Proteins of this subgroup are distinguished from other members of the family by sequence homology and preferential binding affinity for membrane-bound ephrin-B ligands. Allelic variants are associated with prostate and brain cancer susceptibility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
EPHB4	chr7	100802565	100827521	-	ENSG00000196411.9	protein_coding	CMAVM2|HFASD|HTK|LMPHM7|MYK1|TYRO11	7q22.1	EPH receptor B4	Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. [provided by RefSeq, Jul 2008]
EPHB6	chr7	142855061	142871094	+	ENSG00000106123.11	protein_coding	HEP	7q34	EPH receptor B6	This gene encodes a member of a family of transmembrane proteins that function as receptors for ephrin-B family proteins. Unlike other members of this family, the encoded protein does not contain a functional kinase domain. Activity of this protein can influence cell adhesion and migration. Expression of this gene is downregulated during tumor progression, suggesting that the protein may suppress tumor invasion and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
EPHX1	chr1	225810092	225845563	+	ENSG00000143819.12	protein_coding	EPHX|EPOX|HYL1|MEH	1q42.12	epoxide hydrolase 1	Epoxide hydrolase is a critical biotransformation enzyme that converts epoxides from the degradation of aromatic compounds to trans-dihydrodiols which can be conjugated and excreted from the body. Epoxide hydrolase functions in both the activation and detoxification of epoxides. Mutations in this gene cause preeclampsia, epoxide hydrolase deficiency or increased epoxide hydrolase activity. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2008]
EPHX2	chr8	27490779	27545564	+	ENSG00000120915.13	protein_coding	ABHD20|CEH|SEH	8p21.2-p21.1	epoxide hydrolase 2	This gene encodes a member of the epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Mutations in this gene have been associated with familial hypercholesterolemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
EPHX4	chr1	92029982	92063536	+	ENSG00000172031.6	protein_coding	ABHD7|EH4|EPHXRP	1p22.1	epoxide hydrolase 4	Biased expression in brain (RPKM 5.0), thyroid (RPKM 1.1) and 9 other tissues
EPM2A	chr6	145382535	145736023	-	ENSG00000112425.14	protein_coding	EPM2|MELF	6q24.3	EPM2A glucan phosphatase, laforin	This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]
EPM2AIP1	chr3	36985043	36993168	-	ENSG00000178567.7	protein_coding	-	3p22.2	EPM2A interacting protein 1	-
EPN1	chr19	55675226	55709858	+	ENSG00000063245.14	protein_coding	-	19q13.42	epsin 1	Ubiquitous expression in duodenum (RPKM 31.4), stomach (RPKM 31.2) and 25 other tissues
EPN2	chr17	19215615	19336715	+	ENSG00000072134.15	protein_coding	EHB21	17p11.2	epsin 2	This gene encodes a protein which interacts with clathrin and adaptor-related protein complex 2, alpha 1 subunit. The protein is found in a brain-derived clathrin-coated vesicle fraction and localizes to the peri-Golgi region and the cell periphery. The protein is thought to be involved in clathrin-mediated endocytosis. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
EPN3	chr17	50532543	50543750	+	ENSG00000049283.17	protein_coding	-	17q21.33	epsin 3	-
EPO	chr7	100720800	100723700	+	ENSG00000130427.2	protein_coding	DBAL|ECYT5|EP|MVCD2	7q22.1	erythropoietin	This gene encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The encoded protein is mainly synthesized in the kidney, secreted into the blood plasma, and binds to the erythropoietin receptor to promote red blood cell production, or erythropoiesis, in the bone marrow. Expression of this gene is upregulated under hypoxic conditions, in turn leading to increased erythropoiesis and enhanced oxygen-carrying capacity of the blood. Expression of this gene has also been observed in brain and in the eye, and elevated expression levels have been observed in diabetic retinopathy and ocular hypertension. Recombinant forms of the encoded protein exhibit neuroprotective activity against a variety of potential brain injuries, as well as antiapoptotic functions in several tissue types, and have been used in the treatment of anemia and to enhance the efficacy of cancer therapies. [provided by RefSeq, Aug 2017]
EPOP	chr17	38671703	38675421	-	ENSG00000273604.1	protein_coding	C17orf96|PRR28	17q12	elongin BC and polycomb repressive complex 2 associated protein	Predicted to enable chromatin binding activity. Predicted to be involved in several processes, including histone H2B conserved C-terminal lysine deubiquitination; neuron fate commitment; and stem cell differentiation. Predicted to be located in chromosome. Predicted to colocalize with ESC/E(Z) complex and elongin complex. [provided by Alliance of Genome Resources, Apr 2022]
EPOR	chr19	11377205	11384342	-	ENSG00000187266.13	protein_coding	EPO-R	19p13.2	erythropoietin receptor	This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
EPPIN	chr20	45540626	45547752	-	ENSG00000101448.13	protein_coding	CT71|CT72|SPINLW1|WAP7|WFDC7|dJ461P17.2	20q13.12	epididymal peptidase inhibitor	This gene encodes an epididymal protease inhibitor, which contains both kunitz-type and WAP-type four-disulfide core (WFDC) protease inhibitor consensus sequences. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene is a member of the WFDC gene family and belongs to the telomeric cluster. The protein can inhibit human sperm motility and exhibits antimicrobial activity against E. coli, and polymorphisms in this gene are associated with male infertility. Read-through transcription also exists between this gene and the downstream WFDC6 (WAP four-disulfide core domain 6) gene. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
EPPK1	chr8	143857324	143878464	-	ENSG00000261150.2	protein_coding	EPIPL|EPIPL1	8q24.3	epiplakin 1	The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013]
EPRS1	chr1	 219968600	220046505	-	ENSG00000136628	protein-coding	EARS|EPRS|GLUPRORS|HLD15|PARS|PIG32|QARS|QPRS	1q41	glutamyl-prolyl-tRNA synthetase 1	Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008]
EPS15	chr1	51354263	51519328	-	ENSG00000085832.16	protein_coding	AF-1P|AF1P|MLLT5	1p32.3	epidermal growth factor receptor pathway substrate 15	This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009]
EPS15L1	chr19	16355239	16472085	-	ENSG00000127527.13	protein_coding	EPS15R	19p13.11	epidermal growth factor receptor pathway substrate 15 like 1	Ubiquitous expression in brain (RPKM 4.8), heart (RPKM 4.6) and 25 other tissues
EPS8	chr12	15620158	15882329	-	ENSG00000151491.12	protein_coding	DFNB102	12p12.3	epidermal growth factor receptor pathway substrate 8	This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
EPS8L1	chr19	55072020	55087923	+	ENSG00000131037.14	protein_coding	DRC3|EPS8R1|PP10566	19q13.42	EPS8 like 1	This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
EPS8L2	chr11	694438	727727	+	ENSG00000177106.14	protein_coding	DFNB106|EPS8R2	11p15.5	EPS8 like 2	This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008]
EPS8L3	chr1	109750080	109764027	-	ENSG00000198758.10	protein_coding	EPS8R3|HYPT5	1p13.3	EPS8 like 3	This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]
EPSTI1	chr13	42886388	42992271	-	ENSG00000133106.14	protein_coding	BRESI1	13q14.11	epithelial stromal interaction 1	The protein encoded by this gene has been shown to promote tumor invasion and metastasis in some invasive cancer cells when overexpressed. Expression of this gene has been shown to be upregulated by direct binding of the Kruppel like factor 8 protein to promoter sequences. The translated protein interacts with the amino terminal region of the valosin containing protein gene product, resulting in the nuclear translocation of the nuclear factor kappa B subunit 1 gene product, and activation of target genes. Overexpression of this gene has been observed in some breast cancers and in some individuals with systemic lupus erythematosus (SLE). [provided by RefSeq, Sep 2016]
EPX	chr17	58192737	58205174	+	ENSG00000121053.5	protein_coding	EPO|EPP|EPX-PEN|EPXD	17q22	eosinophil peroxidase	This gene is a member of the peroxidase gene family and is expressed in eosinophils. The encoded preproprotein is proteolytically processed into covalently attached heavy and light chains to form the mature enzyme, which functions as an oxidant. The enzyme is released at sites of parasitic infection or allergen stimulation to mediate lysis of protozoa or parasitic worms. The gene is found in a gene cluster with other peroxidase genes on chromosome 17. Mutations in this gene result in eosinophil peroxidase deficiency. [provided by RefSeq, Feb 2016]
EPYC	chr12	90963679	91005026	-	ENSG00000083782.7	protein_coding	DSPG3|PGLB|Pg-Lb|SLRR3B	12q21.33	epiphycan	Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan family. This gene is composed of seven exons. It regulates fibrillogenesis by interacting with collagen fibrils and other extracellular matrix proteins. [provided by RefSeq, Jul 2008]
ERAL1	chr17	28854938	28861067	+	ENSG00000132591.11	protein_coding	CEGA|ERA|ERA-W|ERAL1A|ERAL1B|H-ERA|HERA-A|HERA-B|PRLTS6	17q11.2	Era like 12S mitochondrial rRNA chaperone 1	The protein encoded by this gene is a GTPase that localizes to the mitochondrion. The encoded protein binds to the 3 terminal stem loop of 12S mitochondrial rRNA and is required for proper assembly of the 28S small mitochondrial ribosomal subunit. Deletion of this gene has been shown to cause mitochondrial dysfunction, growth retardation, and apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
ERAP1	chr5	96760810	96808100	-	ENSG00000164307.12	protein_coding	A-LAP|ALAP|APPILS|ARTS-1|ARTS1|ERAAP|ERAAP1|PILS-AP|PILSAP	5q15	endoplasmic reticulum aminopeptidase 1	The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
ERAP2	chr5	96875939	96919716	+	ENSG00000164308.16	protein_coding	L-RAP|LRAP	5q15	endoplasmic reticulum aminopeptidase 2	This gene encodes a zinc metalloaminopeptidase of the M1 protease family that resides in the endoplasmic reticulum and functions in N-terminal trimming antigenic epitopes for presentation by major histocompatibility complex (MHC) class I molecules. Certain mutations in this gene are associated with the inflammatory arthritis syndrome ankylosing spondylitis and pre-eclampsia. This gene is located adjacent to a closely related aminopeptidase gene on chromosome 5. [provided by RefSeq, Jul 2016]
ERBB2	chr17	39687914	39730426	+	ENSG00000141736.13	protein_coding	CD340|HER-2|HER-2/neu|HER2|MLN 19|NEU|NGL|TKR1|VSCN2	17q12	erb-b2 receptor tyrosine kinase 2	This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]
ERBB3	chr12	56079857	56103505	+	ENSG00000065361.14	protein_coding	ErbB-3|FERLK|HER3|LCCS2|MDA-BF-1|VSCN1|c-erbB-3|c-erbB3|erbB3-S|p180-ErbB3|p45-sErbB3|p85-sErbB3	12q13.2	erb-b2 receptor tyrosine kinase 3	This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
ERBB4	chr2	211375717	212538841	-	ENSG00000178568.14	protein_coding	ALS19|HER4|p180erbB4	2q34	erb-b2 receptor tyrosine kinase 4	This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
ERC1	chr12	990509	1495933	+	ENSG00000082805.19	protein_coding	Cast2|ELKS|ERC-1|RAB6IP2	12p13.33	ELKS/RAB6-interacting/CAST family member 1	The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
ERC2	chr3	55508308	56468363	-	ENSG00000187672.12	protein_coding	CAST|CAST1|ELKSL|SPBC110|Spc110	3p14.3	ELKS/RAB6-interacting/CAST family member 2	This gene encodes a protein that belongs to the Rab3-interacting molecule (RIM)-binding protein family. Members of this protein family form part of the cytomatrix at the active zone (CAZ) complex and function as regulators of neurotransmitter release. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
ERCC1	chr19	45407333	45478828	-	ENSG00000012061.15	protein_coding	COFS4|RAD10|UV20	19q13.32	ERCC excision repair 1, endonuclease non-catalytic subunit	The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5 incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]
ERCC2	chr19	45349837	45370918	-	ENSG00000104884.14	protein_coding	COFS2|EM9|TFIIH|TTD|TTD1|XPD	19q13.32	ERCC excision repair 2, TFIIH core complex helicase subunit	The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
ERCC3	chr2	127257290	127294176	-	ENSG00000163161.12	protein_coding	BTF2|GTF2H|RAD25|Ssl2|TFIIH|TTD2|XPB	2q14.3	ERCC excision repair 3, TFIIH core complex helicase subunit	This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockaynes syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
ERCC4	chr16	13920157	13952345	+	ENSG00000175595.14	protein_coding	ERCC11|FANCQ|RAD1|XFEPS|XPF	16p13.12	ERCC excision repair 4, endonuclease catalytic subunit	The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5 incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]
ERCC5	chr13	102844844	102876001	+	ENSG00000134899.18	protein_coding	COFS3|ERCC5-201|ERCM2|UVDR|XPG|XPGC	13q33.1	ERCC excision repair 5, endonuclease	This gene encodes a single-strand specific DNA endonuclease that makes the 3 incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]
ERCC6	chr10	49455368	49539538	-	ENSG00000225830.12	protein_coding	ARMD5|CKN2|COFS|COFS1|CSB|CSB-PGBD3|POF11|RAD26|UVSS1	10q11.23	ERCC excision repair 6, chromatin remodeling factor	This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3 splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]
ERCC6L2	chr9	95875701	96014571	+	ENSG00000182150.15	protein_coding	BMFS2|C9orf102|HEBO|RAD26L|SR278	9q22.32	ERCC excision repair 6 like 2	This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014]
ERCC8	chr5	60873831	60945073	-	ENSG00000049167.13	protein_coding	CKN1|CSA|UVSS2	5q12.1	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
EREG	chr4	74365143	74388751	+	ENSG00000124882.3	protein_coding	EPR|ER|Ep	4q13.3	epiregulin	This gene encodes a secreted peptide hormone and member of the epidermal growth factor (EGF) family of proteins. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and the structurally related erb-b2 receptor tyrosine kinase 4 (ERBB4). The encoded protein may be involved in a wide range of biological processes including inflammation, wound healing, oocyte maturation, and cell proliferation. Additionally, the encoded protein may promote the progression of cancers of various human tissues. [provided by RefSeq, Jul 2015]
ERF	chr19	42247572	42255157	-	ENSG00000105722.9	protein_coding	CHYTS|CRS4|PE-2|PE2	19q13.2	ETS2 repressor factor	ETS2 is a transcription factor and protooncogene involved in development, apoptosis, and the regulation of telomerase. The protein encoded by this gene binds to the ETS2 promoter and is a strong repressor of ETS2 transcription. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
ERFE	chr2	238158982	238168900	+	ENSG00000178752.15	protein_coding	C1QTNF15|CTRP15|FAM132B	2q37.3	erythroferrone	Biased expression in thyroid (RPKM 10.6), testis (RPKM 4.5) and 4 other tissues
ERG	chr21	38380027	38661780	-	ENSG00000157554.18	protein_coding	erg-3|p55	21q22.2	ETS transcription factor ERG	This gene encodes a member of the erythroblast transformation-specific (ETS) family of transcriptions factors. All members of this family are key regulators of embryonic development, cell proliferation, differentiation, angiogenesis, inflammation, and apoptosis. The protein encoded by this gene is mainly expressed in the nucleus. It contains an ETS DNA-binding domain and a PNT (pointed) domain which is implicated in the self-association of chimeric oncoproteins. This protein is required for platelet adhesion to the subendothelium, inducing vascular cell remodeling. It also regulates hematopoesis, and the differentiation and maturation of megakaryocytic cells. This gene is involved in chromosomal translocations, resulting in different fusion gene products, such as TMPSSR2-ERG and NDRG1-ERG in prostate cancer, EWS-ERG in Ewings sarcoma and FUS-ERG in acute myeloid leukemia. More than two dozens of transcript variants generated from combinatorial usage of three alternative promoters and multiple alternative splicing events have been reported, but the full-length nature of many of these variants has not been determined. [provided by RefSeq, Apr 2014]
ERG28	chr14	 75649791	75660876	-	ENSG00000133935	protein-coding	C14orf1|NET51	14q24.3	ergosterol biosynthesis 28 homolog	Broad expression in testis (RPKM 53.5), liver (RPKM 25.7) and 25 other tissues
ERGIC1	chr5	172834275	172952685	+	ENSG00000113719.15	protein_coding	AMC2|AMCN|ERGIC-32|ERGIC32|NET24	5q35.1	endoplasmic reticulum-golgi intermediate compartment 1	This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. [provided by RefSeq, Jul 2008]
ERGIC2	chr12	29337352	29381189	-	ENSG00000087502.17	protein_coding	CDA14|Erv41|PTX1|cd002	12p11.22	ERGIC and golgi 2	ERGIC2, or PTX1, is a ubiquitously expressed nuclear protein that is downregulated in prostate carcinoma (Kwok et al., 2001 [PubMed 11445006]).[supplied by OMIM, Aug 2008]
ERGIC3	chr20	35542021	35557634	+	ENSG00000125991.19	protein_coding	C20orf47|C2orf47|CGI-54|Erv46|NY-BR-84|PRO0989|SDBCAG84|dJ477O4.2	20q11.22	ERGIC and golgi 3	Ubiquitous expression in thyroid (RPKM 113.7), testis (RPKM 112.2) and 25 other tissues
ERH	chr14	69380123	69398627	-	ENSG00000100632.10	protein_coding	DROER	14q24.1	ERH mRNA splicing and mitosis factor	Ubiquitous expression in colon (RPKM 61.2), kidney (RPKM 56.3) and 25 other tissues
ERI1	chr8	9002147	9116746	+	ENSG00000104626.14	protein_coding	3'HEXO|HEXO|THEX1	8p23.1	exoribonuclease 1	Ubiquitous expression in testis (RPKM 5.2), appendix (RPKM 4.2) and 25 other tissues
ERI2	chr16	20780193	20900349	-	ENSG00000196678.13	protein_coding	EXOD1|ZGRF5	16p12.3	ERI1 exoribonuclease family member 2	Ubiquitous expression in testis (RPKM 7.3), liver (RPKM 6.6) and 25 other tissues
ERI3	chr1	44221070	44355260	-	ENSG00000117419.14	protein_coding	PINT1|PRNPIP	1p34.1	ERI1 exoribonuclease family member 3	Ubiquitous expression in brain (RPKM 26.0), testis (RPKM 24.6) and 25 other tissues
ERICD	chr8	140636281	140638283	+	ENSG00000280303.2	lincRNA	ERIC|LINC01130|TCONS_00014875	8q24.3	E2F1-regulated inhibitor of cell death	-
ERICH1	chr8	614746	738106	-	ENSG00000104714.13	protein_coding	HSPC319	8p23.3	glutamate rich 1	Ubiquitous expression in lymph node (RPKM 1.3), skin (RPKM 1.3) and 25 other tissues
ERICH2	chr2	170783786	170798971	+	ENSG00000204334.7	protein_coding	-	2q31.1	glutamate rich 2	-
ERICH3	chr1	74568111	74673738	-	ENSG00000178965.13	protein_coding	C1orf173	1p31.1	glutamate rich 3	Biased expression in testis (RPKM 11.4), brain (RPKM 6.8) and 2 other tissues
ERICH4	chr19	41443158	41444765	+	ENSG00000204978.2	protein_coding	C19orf69	19q13.2	glutamate rich 4	Biased expression in duodenum (RPKM 9.8), small intestine (RPKM 9.5) and 3 other tissues
ERICH6B	chr13	45534522	45615739	-	ENSG00000165837.11	protein_coding	FAM194B	13q14.13	glutamate rich 6B	Restricted expression toward testis (RPKM 1.6)
ERLEC1	chr2	53787044	53818819	+	ENSG00000068912.13	protein_coding	C2orf30|CIM|CL24936|CL25084|HEL117|XTP3-B|XTP3TPB	2p16.2	endoplasmic reticulum lectin 1	This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is thought to be involved in ER-associated degradation via its interaction with the membrane-associated ubiquitin ligase complex. It also functions as a regulator of multiple cellular stress-response pathways in a manner that promotes metastatic cell survival. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 21. [provided by RefSeq, Aug 2011]
ERLIN1	chr10	100150094	100188334	-	ENSG00000107566.13	protein_coding	C10orf69|Erlin-1|KE04|KEO4|SPFH1|SPG62	10q24.31	ER lipid raft associated 1	The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016]
ERLIN2	chr8	37736599	37759101	+	ENSG00000147475.14	protein_coding	C8orf2|Erlin-2|NET32|SPFH2|SPG18	8p11.23	ER lipid raft associated 2	This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by mediating ER-associated degradation of activated IP3 receptors. Mutations in this gene are a cause of spastic paraplegia-18 (SPG18). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
ERMAP	chr1	42817124	42844989	+	ENSG00000164010.13	protein_coding	BTN5|PRO2801|RD|SC	1p34.2	erythroblast membrane associated protein (Scianna blood group)	The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible for the Scianna/Radin blood group system. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
ERMARD	chr6	169751622	169781584	+	ENSG00000130023.15	protein_coding	C6orf70|PVNH6|dJ266L20.3	6q27	ER membrane associated RNA degradation	The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
ERMP1	chr9	5765076	5833117	-	ENSG00000099219.13	protein_coding	FXNA|KIAA1815|bA207C16.3	9p24.1	endoplasmic reticulum metallopeptidase 1	Ubiquitous expression in thyroid (RPKM 22.8), kidney (RPKM 19.4) and 24 other tissues
ERN1	chr17	64039142	64130819	-	ENSG00000178607.15	protein_coding	IRE1|IRE1P|IRE1a|hIRE1p	17q23.3	endoplasmic reticulum to nucleus signaling 1	This gene encodes the transmembrane protein kinase inositol-requiring enzyme 1. The encoded protein contains two functional catalytic domains, a serine/threonine-protein kinase domain and an endoribonuclease domain. This protein functions as a sensor of unfolded proteins in the endoplasmic reticulum (ER) and triggers an intracellular signaling pathway termed the unfolded protein response (UPR). The UPR is an ER stress response that is conserved from yeast to mammals and activates genes involved in degrading misfolded proteins, regulating protein synthesis and activating molecular chaperones. This protein specifically mediates the splicing and activation of the stress response transcription factor X-box binding protein 1. [provided by RefSeq, Aug 2017]
ERO1A	chr14	52639916	52695900	-	ENSG00000197930.12	protein_coding	ERO1-L|ERO1-L-alpha|ERO1-alpha|ERO1L|ERO1LA|Ero1alpha	14q22.1	endoplasmic reticulum oxidoreductase 1 alpha	Broad expression in esophagus (RPKM 69.5), placenta (RPKM 19.1) and 21 other tissues
ERP27	chr12	14914035	14939082	-	ENSG00000139055.6	protein_coding	C12orf46|PDIA8	12p12.3	endoplasmic reticulum protein 27	This gene encodes a noncatalytic member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. The canonical protein has an N-terminal signal sequence, two thioredoxin (TRX)-like domains and a C-terminal ER-retention sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms; some of which lack domains present in the canonical protein. [provided by RefSeq, Dec 2016]
ERP29	chr12	112013316	112023451	+	ENSG00000089248.6	protein_coding	C12orf8|ERp28|ERp31|HEL-S-107|PDI-DB|PDIA9	12q24.13	endoplasmic reticulum protein 29	This gene encodes a protein which localizes to the lumen of the endoplasmic reticulum (ER). It is a member of the protein disulfide isomerase (PDI) protein family but lacks an active thioredoxin motif, suggesting that this protein does not function as a disulfide isomerase. The canonical protein dimerizes and is thought to play a role in the processing of secretory proteins within the ER. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
ERP29P1	chr20	52110344	52111049	-	ENSG00000233347.1	processed_pseudogene	ERP28P	20q13.2	endoplasmic reticulum lumenal protein 29 pseudogene 1	-
ERP44	chr9	99979179	100099040	-	ENSG00000023318.7	protein_coding	PDIA10|TXNDC4	9q31.1	endoplasmic reticulum protein 44	This gene encodes a member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. It has an inferred N-terminal signal peptide, a catalytically active thioredoxin (TRX) domain, two TRX-like domains and a C-terminal ER-retention sequence. This protein functions as a pH-regulated chaperone of the secretory pathway and likely plays a role in protein quality control at the endoplasmic reticulum - Golgi interface. [provided by RefSeq, Dec 2016]
ERRFI1	chr1	8004404	8026308	-	ENSG00000116285.12	protein_coding	GENE-33|MIG-6|MIG6|RALT	1p36.23	ERBB receptor feedback inhibitor 1	ERRFI1 is a cytoplasmic protein whose expression is upregulated with cell growth (Wick et al., 1995 [PubMed 7641805]). It shares significant homology with the protein product of rat gene-33, which is induced during cell stress and mediates cell signaling (Makkinje et al., 2000 [PubMed 10749885]; Fiorentino et al., 2000 [PubMed 11003669]).[supplied by OMIM, Mar 2008]
ERV3-1	chr7	64990809	65006743	-	ENSG00000213462.4	protein_coding	ERV-R|ERV3|ERVR|HERV-R|HERVR|envR	7q11.21	endogenous retrovirus group 3 member 1, envelope	This gene contains sequence derived from endogenous retrovirus, and is therefore similar to multiple other loci in the genome. Transcripts at this locus encode a conserved protein with a predicted signal peptide and similarity to the Env polyprotein. This protein is overexpressed in colorectal and other cancers. [provided by RefSeq, Jan 2017]
ERVFRD-1	chr6	11102489	11111732	-	ENSG00000244476.2	protein_coding	ERVFRDE1|GLLL6191|HERV-FRD|HERV-W/FRD|UNQ6191|envFRD	6p24.2	endogenous retrovirus group FRD member 1, envelope	Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of a human endogenous retrovirus provirus on chromosome 6 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The genes protein product plays a major role in placental development and trophoblast fusion. The protein has the characteristics of a typical retroviral envelope protein, including a cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. [provided by RefSeq, Jun 2012]
ERVK13-1	chr16	2660349	2673444	-	ENSG00000260565.6	processed_transcript	-	16p13.3	endogenous retrovirus group K13 member 1	Ubiquitous expression in thyroid (RPKM 2.5), testis (RPKM 2.4) and 25 other tissues
ERVK3-1	chr19	58305319	58315663	+	ENSG00000142396.10	protein_coding	-	19q13.43	endogenous retrovirus group K3 member 1	-
ERVK9-11	chr19	-	-	-	-	other	-	19q13.2	endogenous retrovirus group K9, member 11	-
ERVW-1	chr7	92468380	92477986	-	ENSG00000242950.6	protein_coding	ENV|ENVW|ERVWE1|HERV-7q|HERV-W-ENV|HERV7Q|HERVW|HERVWENV	7q21.2	endogenous retrovirus group W member 1, envelope	Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of an HERV provirus on chromosome 7 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The genes protein product is expressed in the placental syncytiotrophoblast and is involved in fusion of the cytotrophoblast cells to form the syncytial layer of the placenta. The protein has the characteristics of a typical retroviral envelope protein, including a furin cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]
ESAM	chr11	124752583	124762290	-	ENSG00000149564.11	protein_coding	W117m	11q24.2	endothelial cell adhesion molecule	Broad expression in placenta (RPKM 71.1), thyroid (RPKM 67.5) and 21 other tissues
ESCO1	chr18	21529281	21600884	-	ENSG00000141446.10	protein_coding	A930014I12Rik|CTF|ECO1|EFO1|ESO1	18q11.2	establishment of sister chromatid cohesion N-acetyltransferase 1	ESCO1 belongs to a conserved family of acetyltransferases involved in sister chromatid cohesion (Hou and Zou, 2005 [PubMed 15958495]).[supplied by OMIM, Mar 2008]
ESD	chr13	46771256	46797232	-	ENSG00000139684.13	protein_coding	FGH	13q14.2	esterase D	This gene encodes a serine hydrolase that belongs to the esterase D family. The encoded enzyme is active toward numerous substrates including O-acetylated sialic acids, and it may be involved in the recycling of sialic acids. This gene is used as a genetic marker for retinoblastoma and Wilsons disease. [provided by RefSeq, Feb 2009]
ESM1	chr5	54977864	55022671	-	ENSG00000164283.12	protein_coding	endocan	5q11.2	endothelial cell specific molecule 1	This gene encodes a secreted protein which is mainly expressed in the endothelial cells in human lung and kidney tissues. The expression of this gene is regulated by cytokines, suggesting that it may play a role in endothelium-dependent pathological disorders. The transcript contains multiple polyadenylation and mRNA instability signals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
ESPL1	chr12	53268299	53293643	+	ENSG00000135476.11	protein_coding	ESP1|SEPA	12q13.13	extra spindle pole bodies like 1, separase	Stable cohesion between sister chromatids before anaphase and their timely separation during anaphase are critical for chromosome inheritance. In vertebrates, sister chromatid cohesion is released in 2 steps via distinct mechanisms. The first step involves phosphorylation of STAG1 (MIM 604358) or STAG2 (MIM 300826) in the cohesin complex. The second step involves cleavage of the cohesin subunit SCC1 (RAD21; MIM 606462) by ESPL1, or separase, which initiates the final separation of sister chromatids (Sun et al., 2009 [PubMed 19345191]).[supplied by OMIM, Nov 2010]
ESPN	chr1	6424788	6461370	+	ENSG00000187017.15	protein_coding	DFNB36|LP2654|USH1M	1p36.31	espin	This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]
ESPNL	chr2	238100157	238133287	+	ENSG00000144488.14	protein_coding	-	2q37.3	espin like	-
ESPNP	chr1	16687339	16720157	-	ENSG00000268869.5	transcribed_unprocessed_pseudogene	dJ1182A14.1	1p36.13	espin pseudogene	Low expression observed in reference dataset
ESR1	chr6	151656691	152129619	+	ENSG00000091831.22	protein_coding	ER|ESR|ESRA|ESTRR|Era|NR3A1	6q25.1-q25.2	estrogen receptor 1	This gene encodes an estrogen receptor and ligand-activated transcription factor. The canonical protein contains an N-terminal ligand-independent transactivation domain, a central DNA binding domain, a hinge domain, and a C-terminal ligand-dependent transactivation domain. The protein localizes to the nucleus where it may form either a homodimer or a heterodimer with estrogen receptor 2. The protein encoded by this gene regulates the transcription of many estrogen-inducible genes that play a role in growth, metabolism, sexual development, gestation, and other reproductive functions and is expressed in many non-reproductive tissues. The receptor encoded by this gene plays a key role in breast cancer, endometrial cancer, and osteoporosis. This gene is reported to have dozens of transcript variants due to the use of alternate promoters and alternative splicing, however, the full-length nature of many of these variants remain uncertain. [provided by RefSeq, Jul 2020]
ESR2	chr14	64084232	64338112	-	ENSG00000140009.18	protein_coding	ER-BETA|ESR-BETA|ESRB|ESTRB|Erb|NR3A2|ODG8	14q23.2-q23.3	estrogen receptor 2	This gene encodes a member of the family of estrogen receptors and superfamily of nuclear receptor transcription factors. The gene product contains an N-terminal DNA binding domain and C-terminal ligand binding domain and is localized to the nucleus, cytoplasm, and mitochondria. Upon binding to 17beta-estradiol or related ligands, the encoded protein forms homo- or hetero-dimers that interact with specific DNA sequences to activate transcription. Some isoforms dominantly inhibit the activity of other estrogen receptor family members. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been fully characterized. [provided by RefSeq, Jul 2008]
ESRP1	chr8	94641074	94707466	+	ENSG00000104413.15	protein_coding	DFNB109|RBM35A|RMB35A	8q22.1	epithelial splicing regulatory protein 1	ESPR1 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]
ESRP2	chr16	68229111	68238102	-	ENSG00000103067.13	protein_coding	RBM35B	16q22.1	epithelial splicing regulatory protein 2	ESPR2 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 [PubMed 19285943]).[supplied by OMIM, Aug 2009]
ESRRA	chr11	64305572	64316743	+	ENSG00000173153.13	protein_coding	ERR1|ERRa|ERRalpha|ESRL1|NR3B1	11q13.1	estrogen related receptor alpha	The protein encoded by this gene is a nuclear receptor that is most closely related to the estrogen receptor. This protein acts as a site-specific transcription factor and interacts with members of the PGC-1 family of transcription cofactors to regulate the expression of most genes involved in cellular energy production as well as in the process of mitochondrial biogenesis. A processed pseudogene of ESRRA is located on chromosome 13q12.1. [provided by RefSeq, Jun 2019]
ESS2	chr22	 19130279	19144651	-	ENSG00000100056	protein-coding	DGCR13|DGCR14|DGS-H|DGS-I|DGSH|DGSI|ES2|ESS-2|Es2el|bis1	22q11.21|22q11.2	ess-2 splicing factor homolog	This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
ESYT1	chr12	56118250	56144671	+	ENSG00000139641.12	protein_coding	FAM62A|MBC2	12q13.2	extended synaptotagmin 1	Ubiquitous expression in fat (RPKM 71.4), lung (RPKM 26.2) and 25 other tissues
ESYT2	chr7	158730995	158830253	-	ENSG00000117868.15	protein_coding	CHR2SYT|E-Syt2|FAM62B	7q36.3	extended synaptotagmin 2	Ubiquitous expression in fat (RPKM 29.7), thyroid (RPKM 27.6) and 25 other tissues
ESYT3	chr3	138434586	138481686	+	ENSG00000158220.13	protein_coding	CHR3SYT|E-Syt3|FAM62C	3q22.3	extended synaptotagmin 3	Biased expression in lung (RPKM 3.7), thyroid (RPKM 3.1) and 8 other tissues
ETAA1	chr2	67397319	67410545	+	ENSG00000143971.7	protein_coding	ETAA16	2p14	ETAA1 activator of ATR kinase	Ubiquitous expression in thyroid (RPKM 6.6), endometrium (RPKM 6.0) and 25 other tissues
ETF1	chr5	138506095	138543300	-	ENSG00000120705.12	protein_coding	D5S1995|ERF|ERF1|RF1|SUP45L1|TB3-1	5q31.2	eukaryotic translation termination factor 1	This gene encodes a class-1 polypeptide chain release factor. The encoded protein plays an essential role in directing termination of mRNA translation from the termination codons UAA, UAG and UGA. This protein is a component of the SURF complex which promotes degradation of prematurely terminated mRNAs via the mechanism of nonsense-mediated mRNA decay (NMD). Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 6, 7, and X. [provided by RefSeq, Aug 2013]
ETF1P1	chr6	30031713	30033003	+	ENSG00000232757.1	processed_pseudogene	HCGVII|SUP45L2	6p22.1	eukaryotic translation termination factor 1 pseudogene 1	-
ETFA	chr15	76215355	76311472	-	ENSG00000140374.15	protein_coding	EMA|GA2|MADD	15q24.2-q24.3	electron transfer flavoprotein subunit alpha	ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ETFBKMT	chr12	31647160	31673114	+	ENSG00000139160.13	protein_coding	C12orf72|ETFB-KMT|METTL20	12p11.21	electron transfer flavoprotein subunit beta lysine methyltransferase	Ubiquitous expression in kidney (RPKM 1.8), testis (RPKM 1.6) and 25 other tissues
ETFDH	chr4	158672125	158709623	+	ENSG00000171503.11	protein_coding	ETFQO|MADD	4q32.1	electron transfer flavoprotein dehydrogenase	This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]
ETFRF1	chr12	25195216	25209645	+	ENSG00000205707.10	protein_coding	LYRM5	12p12.1	electron transfer flavoprotein regulatory factor 1	Ubiquitous expression in testis (RPKM 14.3), adrenal (RPKM 11.7) and 25 other tissues
ETHE1	chr19	43506719	43527244	-	ENSG00000105755.7	protein_coding	HSCO|YF13H12	19q13.31	ETHE1 persulfide dioxygenase	This gene encodes a member of the metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a persulfide substrate to sulfite. Certain mutations in this gene cause ethylmalonic encephalopathy, an infantile metabolic disorder affecting the brain, gastrointestinal tract and peripheral vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
ETNK1	chr12	22625075	22690665	+	ENSG00000139163.15	protein_coding	EKI|EKI 1|EKI1|Nbla10396	12p12.1	ethanolamine kinase 1	This gene encodes an ethanolamine kinase, which functions in the first committed step of the phosphatidylethanolamine synthesis pathway. This cytosolic enzyme is specific for ethanolamine and exhibits negligible kinase activity on choline. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
ETNPPL	chr4	108742040	108763054	-	ENSG00000164089.8	protein_coding	AGXT2L1	4q25	ethanolamine-phosphate phospho-lyase	Biased expression in liver (RPKM 37.5), brain (RPKM 36.7) and 3 other tissues
ETS1	chr11	128458761	128587558	-	ENSG00000134954.14	protein_coding	ETS-1|EWSR2|c-ets-1|p54	11q24.3	ETS proto-oncogene 1, transcription factor	This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]
ETS2	chr21	38805307	38824955	+	ENSG00000157557.11	protein_coding	ETS2IT1	21q22.2	ETS proto-oncogene 2, transcription factor	This gene encodes a transcription factor which regulates genes involved in development and apoptosis. The encoded protein is also a protooncogene and shown to be involved in regulation of telomerase. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
ETV1	chr7	13891228	13991425	-	ENSG00000006468.13	protein_coding	ER81	7p21.2	ETS variant transcription factor 1	This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5-CGGA[AT]-3. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Ewing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2016]
ETV2	chr19	35641745	35644871	+	ENSG00000105672.14	protein_coding	ER71|ETSRP71	19q13.12	ETS variant transcription factor 2	Biased expression in testis (RPKM 2.5), duodenum (RPKM 0.3) and 9 other tissues
ETV3	chr1	157121191	157138474	-	ENSG00000117036.11	protein_coding	METS|PE-1|PE1	1q23.1	ETS variant transcription factor 3	Ubiquitous expression in skin (RPKM 12.1), gall bladder (RPKM 6.8) and 25 other tissues
ETV3L	chr1	157092044	157099808	-	ENSG00000253831.1	protein_coding	-	1q23.1	ETS variant transcription factor 3 like	-
ETV4	chr17	43527844	43579620	-	ENSG00000175832.12	protein_coding	E1A-F|E1AF|PEA3|PEAS3	17q21.31	ETS variant transcription factor 4	Broad expression in thyroid (RPKM 3.5), brain (RPKM 3.4) and 20 other tissues
ETV5	chr3	186046308	186110318	-	ENSG00000244405.7	protein_coding	ERM	3q27.2	ETS variant transcription factor 5	Broad expression in brain (RPKM 25.8), adrenal (RPKM 22.0) and 23 other tissues
ETV6	chr12	11649854	11895402	+	ENSG00000139083.10	protein_coding	TEL|TEL/ABL|THC5	12p13.2	ETS variant transcription factor 6	This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008]
ETV7	chr6	36354091	36387800	-	ENSG00000010030.13	protein_coding	TEL-2|TEL2|TELB	6p21.31	ETS variant transcription factor 7	The protein encoded by this gene belongs to the ETS family of transcription factors, which is a large group of evolutionarily conserved transcriptional regulators that play an important role in a variety of cellular processes throughout development and differentiation, and are involved in oncogenesis as well. This protein is predominantly expressed in hematopoietic tissues. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene (PMID:11108721).[provided by RefSeq, May 2011]
EVA1B	chr1	36322031	36324154	-	ENSG00000142694.6	protein_coding	C1orf78|FAM176B	1p34.3	eva-1 homolog B	Broad expression in kidney (RPKM 6.9), fat (RPKM 6.6) and 23 other tissues
EVC	chr4	5711197	5814305	+	ENSG00000072840.12	protein_coding	DWF-1|EVC1|EVCL	4p16.2	EvC ciliary complex subunit 1	This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]
EVI2A	chr17	31317560	31321884	-	ENSG00000126860.11	protein_coding	EVDA|EVI-2A|EVI2	17q11.2	ecotropic viral integration site 2A	Broad expression in brain (RPKM 20.1), appendix (RPKM 18.9) and 18 other tissues
EVI2B	chr17	31303766	31314112	-	ENSG00000185862.6	protein_coding	CD361|D17S376|EVDB	17q11.2	ecotropic viral integration site 2B	Broad expression in lymph node (RPKM 78.2), spleen (RPKM 77.3) and 15 other tissues
EVI5	chr1	92508696	92792404	-	ENSG00000067208.14	protein_coding	EVI-5|NB4S	1p22.1	ecotropic viral integration site 5	Ubiquitous expression in testis (RPKM 3.8), placenta (RPKM 3.5) and 25 other tissues
EVI5L	chr19	7830233	7864976	+	ENSG00000142459.8	protein_coding	-	19p13.2	ecotropic viral integration site 5 like	-
EVL	chr14	99971449	100144236	+	ENSG00000196405.12	protein_coding	RNB6	14q32.2	Enah/Vasp-like	Broad expression in lymph node (RPKM 31.5), spleen (RPKM 27.6) and 24 other tissues
EVPL	chr17	76004502	76027452	-	ENSG00000167880.7	protein_coding	EVPK	17q25.1	envoplakin	This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal cancer locus on chromosome 17q25, and its deletion is associated with both familial and sporadic forms of oesophageal squamous cell carcinoma. Patients suffering from the autoimmune mucocutaneous disorder, paraneoplastic pemphigus, develop antibodies against the encoded protein. [provided by RefSeq, Jul 2016]
EVPLL	chr17	18377662	18389647	+	ENSG00000214860.4	protein_coding	-	17p11.2	envoplakin like	-
EVX1-AS	chr7	27241429	27247229	-	ENSG00000253405.1	antisense	EVX1-AS1	7p15.2	EVX1 antisense RNA	Predicted to enable chromatin binding activity. Predicted to be part of histone methyltransferase complex. [provided by Alliance of Genome Resources, Apr 2022]
EWSR1	chr22	29268009	29300525	+	ENSG00000182944.17	protein_coding	EWS|EWS-FLI1|bK984G1.4	22q12.2	EWS RNA binding protein 1	This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various genes encoding transcription factors result in the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14. [provided by RefSeq, Jul 2009]
EXD1	chr15	41182725	41230743	-	ENSG00000178997.11	protein_coding	EXDL1	15q15.1	exonuclease 3'-5' domain containing 1	Restricted expression toward testis (RPKM 6.1)
EXD2	chr14	69191511	69244020	+	ENSG00000081177.18	protein_coding	C14orf114|EXDL2	14q24.1	exonuclease 3'-5' domain containing 2	Ubiquitous expression in testis (RPKM 9.7), brain (RPKM 8.0) and 25 other tissues
EXD3	chr9	137306896	137423262	-	ENSG00000187609.15	protein_coding	Nbr|mut-7	9q34.3	exonuclease 3'-5' domain containing 3	Ubiquitous expression in spleen (RPKM 2.6), fat (RPKM 2.4) and 25 other tissues
EXO1	chr1	241847967	241895148	+	ENSG00000174371.16	protein_coding	HEX1|hExoI	1q43	exonuclease 1	This gene encodes a protein with 5 to 3 exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq, Jul 2008]
EXO5	chr1	40508741	40516556	+	ENSG00000164002.11	protein_coding	C1orf176|DEM1|Exo V|hExo5	1p34.2	exonuclease 5	The protein encoded by this gene is a single-stranded DNA (ssDNA)-specific exonuclease that can slide along the DNA before cutting it. However, human replication protein A binds ssDNA and restricts sliding of the encoded protein, providing a 5-directionality to the enzyme. This protein localizes to nuclear repair loci after DNA damage. [provided by RefSeq, Nov 2016]
EXOC1	chr4	55853616	55905034	+	ENSG00000090989.17	protein_coding	BM-102|SEC3|SEC3L1|SEC3P	4q12	exocyst complex component 1	The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
EXOC2	chr6	485133	693111	-	ENSG00000112685.13	protein_coding	NEDFACH|SEC5|SEC5L1|Sec5p	6p25.3	exocyst complex component 2	The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
EXOC3	chr5	443158	471937	+	ENSG00000180104.15	protein_coding	SEC6|SEC6L1|Sec6p	5p15.33	exocyst complex component 3	The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. [provided by RefSeq, Jul 2008]
EXOC3-AS1	chr5	441498	443160	-	ENSG00000221990.4	antisense	C5orf55	5p15.33	EXOC3 antisense RNA 1	Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
EXOC3L1	chr16	67184366	67190204	-	ENSG00000179044.15	protein_coding	EXOC3L	16q22.1	exocyst complex component 3 like 1	Predicted to enable SNARE binding activity. Predicted to be involved in exocyst localization; exocytosis; and peptide hormone secretion. Predicted to be located in secretory granule. Predicted to be part of exocyst. [provided by Alliance of Genome Resources, Apr 2022]
EXOC3L2	chr19	45212621	45245431	-	ENSG00000283632.2	protein_coding	XTP7	19q13.32	exocyst complex component 3 like 2	The protein encoded by this gene is upregulated by vascular endothelial growth factor A and interacts with exocyst complex component 4. The encoded protein may be part of an exocyst complex that plays a role in cell membrane dynamics. Mutations in this gene may be associated with Alzheimers disease. [provided by RefSeq, May 2017]
EXOC3L4	chr14	103100144	103110559	+	ENSG00000205436.7	protein_coding	C14orf73	14q32.32	exocyst complex component 3 like 4	Biased expression in duodenum (RPKM 4.9), small intestine (RPKM 2.6) and 10 other tissues
EXOC4	chr7	133253073	134066589	+	ENSG00000131558.14	protein_coding	SEC8|SEC8L1|Sec8p	7q33	exocyst complex component 4	The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
EXOC6	chr10	92834713	93059493	+	ENSG00000138190.16	protein_coding	EXOC6A|SEC15|SEC15L|SEC15L1|SEC15L3|Sec15p	10q23.33	exocyst complex component 6	The protein encoded by this gene is highly similar to the Saccharomyces cerevisiae SEC15 gene product, which is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. The 5 portion of this gene and two neighboring cytochrome p450 genes are included in a deletion that results in an autosomal-dominant form of nonsyndromic optic nerve aplasia (ONA). Alternative splicing and the use of alternative promoters results in multiple transcript variants. A paralogous gene encoding a similar protein is present on chromosome 2. [provided by RefSeq, Jan 2016]
EXOC6B	chr2	72175984	72826041	-	ENSG00000144036.15	protein_coding	SEC15B|SEC15L2|SEMDJL3	2p13.2	exocyst complex component 6B	This gene encodes a protein which is a part of the evolutionarily conserved exocyst, a multimeric protein complex necessary for exocytosis, which in turn, is crucial for cell growth, polarity and migration. Disruption of this gene may be associated with phenotypes exhibiting multiple symptoms including intellectual disability and developmental delay (DD). [provided by RefSeq, Jun 2016]
EXOC7	chr17	76081017	76121576	-	ENSG00000182473.21	protein_coding	2-5-3p|BLOM4|EX070|EXO70|EXOC1|Exo70p|NEDSEBA|YJL085W	17q25.1	exocyst complex component 7	The protein encoded by this gene is a component of the exocyst complex. The exocyst complex plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. The encoded protein is required for assembly of the exocyst complex and docking of the complex to the plasma membrane. The encoded protein may also play a role in pre-mRNA splicing through interactions with pre-mRNA-processing factor 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Nov 2011]
EXOC8	chr1	231332753	231337852	-	ENSG00000116903.7	protein_coding	EXO84|Exo84p|NEDMISB|SEC84	1q42.2	exocyst complex component 8	This gene encodes a component of the exocyst complex, an evolutionarily conserved multi-protein complex that plays a critical role in vesicular trafficking and the secretory pathway by targeting post-Golgi vesicles to the plasma membrane. This protein is a target of activated Ral subfamily of GTPases and thereby regulates exocytosis by tethering vesicles to the plasma membrane. Mutations in this gene may be related to Joubert syndrome. [provided by RefSeq, Sep 2016]
EXOG	chr3	38496127	38542161	+	ENSG00000157036.12	protein_coding	ENDOGL1|ENDOGL2|ENGL|ENGL-a|ENGL-b|ENGLA|ENGLB	3p22.2	exo/endonuclease G	This gene encodes an endo/exonuclease with 5-3 exonuclease activity. The encoded enzyme catalyzes the hydrolysis of ester linkages at the 5 end of a nucleic acid chain. This enzyme is localized to the mitochondria and may play a role in programmed cell death. Alternatively spliced transcript variants have been described. A pseudogene exists on chromosome 18. [provided by RefSeq, Feb 2009]
EXOSC1	chr10	97436142	97446017	-	ENSG00000171311.12	protein_coding	CGI-108|CSL4|Csl4p|PCH1F|SKI4|Ski4p|p13	10q24.1	exosome component 1	This gene encodes a core component of the exosome. The mammalian exosome is required for rapid degradation of AU rich element-containing RNAs but not for poly(A) shortening. The association of this protein with the exosome is mediated by protein-protein interactions with ribosomal RNA-processing protein 42 and ribosomal RNA-processing protein 46. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2016]
EXOSC10	chr1	11066618	11099881	-	ENSG00000171824.13	protein_coding	PM-Scl|PM/Scl-100|PMSCL|PMSCL2|RRP6|Rrp6p|p2|p3|p4	1p36.22	exosome component 10	Ubiquitous expression in skin (RPKM 18.4), testis (RPKM 18.0) and 25 other tissues
EXOSC2	chr9	130693721	130704894	+	ENSG00000130713.15	protein_coding	RRP4|Rrp4p|SHRF|hRrp4p|p7	9q34.12	exosome component 2	Ubiquitous expression in lymph node (RPKM 5.3), ovary (RPKM 5.1) and 25 other tissues
EXOSC3	chr9	37766978	37801437	-	ENSG00000107371.12	protein_coding	CGI-102|PCH1B|RRP40|Rrp40p|bA3J10.7|hRrp-40|p10	9p13.2	exosome component 3	This gene encodes a non-catalytic component of the human exosome, a complex with 3-5 exoribonuclease activity that plays a role in numerous RNA processing and degradation activities. Related pseudogenes of this gene are found on chromosome 19 and 21. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2012]
EXOSC4	chr8	144078626	144080647	+	ENSG00000178896.8	protein_coding	RRP41|RRP41A|Rrp41p|SKI6|Ski6p|hRrp41p|p12A	8q24.3	exosome component 4	Broad expression in testis (RPKM 19.8), kidney (RPKM 7.7) and 25 other tissues
EXOSC5	chr19	41386374	41397479	-	ENSG00000077348.8	protein_coding	RRP41B|RRP46|Rrp46p|hRrp46p|p12B	19q13.2	exosome component 5	Ubiquitous expression in lymph node (RPKM 8.8), ovary (RPKM 8.2) and 25 other tissues
EXOSC6	chr16	70246778	70251930	-	ENSG00000223496.2	protein_coding	EAP4|MTR3|Mtr3p|hMtr3p|p11	16q22.1	exosome component 6	This gene product constitutes one of the subunits of the multisubunit particle called exosome, which mediates mRNA degradation. The composition of human exosome is similar to its yeast counterpart. This protein is homologous to the yeast Mtr3 protein. Its exact function is not known, however, it has been shown using a cell-free RNA decay system that the exosome is required for rapid degradation of unstable mRNAs containing AU-rich elements (AREs), but not for poly(A) shortening. The exosome does not recognize ARE-containing mRNAs on its own, but requires ARE-binding proteins that could interact with the exosome and recruit it to unstable mRNAs, thereby promoting their rapid degradation. [provided by RefSeq, Jul 2008]
EXOSC7	chr3	44975241	45036066	+	ENSG00000075914.12	protein_coding	EAP1|RRP42|Rrp42p|hRrp42p|p8	3p21.31	exosome component 7	Ubiquitous expression in adrenal (RPKM 11.2), skin (RPKM 10.6) and 25 other tissues
EXOSC9	chr4	121801317	121817021	+	ENSG00000123737.12	protein_coding	PCH1D|PM/Scl-75|PMSCL1|RRP45|Rrp45p|p5|p6	4q27	exosome component 9	This gene encodes a component of the human exosome, a exoribonuclease complex which processes and degrades RNA in the nucleus and cytoplasm. This component may play a role in mRNA degradation and the polymyositis/scleroderma autoantigen complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
EXT1	chr8	117794490	118111853	-	ENSG00000182197.10	protein_coding	EXT|LGCR|LGS|TRPS2|TTV	8q24.11	exostosin glycosyltransferase 1	This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]
EXT2	chr11	44095549	44245429	+	ENSG00000151348.13	protein_coding	SOTV|SSMS	11p11.2	exostosin glycosyltransferase 2	This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
EXTL1	chr1	26019884	26036464	+	ENSG00000158008.9	protein_coding	EXTL	1p36.11	exostosin like glycosyltransferase 1	This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin. [provided by RefSeq, Jul 2008]
EXTL2	chr1	100872372	100895998	-	ENSG00000162694.13	protein_coding	EXTR2	1p21.2	exostosin like glycosyltransferase 2	Enables alpha-1,4-N-acetylgalactosaminyltransferase activity and glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Involved in N-acetylglucosamine metabolic process and UDP-N-acetylgalactosamine metabolic process. Located in cytosol; endoplasmic reticulum; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
EXTL3	chr8	28600469	28755599	+	ENSG00000012232.8	protein_coding	BOTV|EXTL1L|EXTR1|ISDNA|REGR|RPR	8p21.1	exostosin like glycosyltransferase 3	This gene encodes a single-pass membrane protein which functions as a glycosyltransferase. The encoded protein catalyzes the transfer of N-acetylglucosamine to glycosaminoglycan chains. This reaction is important in heparin and heparan sulfate synthesis. Alternative splicing results in the multiple transcript variants. [provided by RefSeq, Nov 2012]
EYA1	chr8	71197433	71362232	-	ENSG00000104313.17	protein_coding	BOP|BOR|BOS1|OFC1	8q13.3	EYA transcriptional coactivator and phosphatase 1	This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]
EYA2	chr20	46894624	47188844	+	ENSG00000064655.18	protein_coding	EAB1	20q13.12	EYA transcriptional coactivator and phosphatase 2	This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009]
EYA3	chr1	27970344	28088696	-	ENSG00000158161.15	protein_coding	-	1p35.3	EYA transcriptional coactivator and phosphatase 3	Ubiquitous expression in testis (RPKM 6.3), kidney (RPKM 5.2) and 25 other tissues
EYA4	chr6	133240598	133532120	+	ENSG00000112319.17	protein_coding	CMD1J|DFNA10	6q23.2	EYA transcriptional coactivator and phosphatase 4	This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
EZH1	chr17	42700275	42745049	-	ENSG00000108799.12	protein_coding	KMT6B	17q21.2	enhancer of zeste 1 polycomb repressive complex 2 subunit	EZH1 is a component of a noncanonical Polycomb repressive complex-2 (PRC2) that mediates methylation of histone H3 (see MIM 602812) lys27 (H3K27) and functions in the maintenance of embryonic stem cell pluripotency and plasticity (Shen et al., 2008 [PubMed 19026780]).[supplied by OMIM, Mar 2009]
EZH2	chr7	148807383	148884321	-	ENSG00000106462.10	protein_coding	ENX-1|ENX1|EZH2b|KMT6|KMT6A|WVS|WVS2	7q36.1	enhancer of zeste 2 polycomb repressive complex 2 subunit	This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]
EZR	chr6	158765741	158819412	-	ENSG00000092820.17	protein_coding	CVIL|CVL|HEL-S-105|VIL2	6q25.3	ezrin	The cytoplasmic peripheral membrane protein encoded by this gene functions as a protein-tyrosine kinase substrate in microvilli. As a member of the ERM protein family, this protein serves as an intermediate between the plasma membrane and the actin cytoskeleton. This protein plays a key role in cell surface structure adhesion, migration and organization, and it has been implicated in various human cancers. A pseudogene located on chromosome 3 has been identified for this gene. Alternatively spliced variants have also been described for this gene. [provided by RefSeq, Jul 2008]
F10	chr13	113122814	113149529	+	ENSG00000126218.11	protein_coding	FX|FXA	13q34	coagulation factor X	This gene encodes the vitamin K-dependent coagulation factor X of the blood coagulation cascade. This factor undergoes multiple processing steps before its preproprotein is converted to a mature two-chain form by the excision of the tripeptide RKR. Two chains of the factor are held together by 1 or more disulfide bonds; the light chain contains 2 EGF-like domains, while the heavy chain contains the catalytic domain which is structurally homologous to those of the other hemostatic serine proteases. The mature factor is activated by the cleavage of the activation peptide by factor IXa (in the intrisic pathway), or by factor VIIa (in the extrinsic pathway). The activated factor then converts prothrombin to thrombin in the presence of factor Va, Ca+2, and phospholipid during blood clotting. Mutations of this gene result in factor X deficiency, a hemorrhagic condition of variable severity. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing to generate mature polypeptides. [provided by RefSeq, Aug 2015]
F10-AS1	chr13	113128155	113128880	-	ENSG00000231882.1	antisense	-	13q34	F10 antisense RNA 1	-
F11	chr4	186265945	186288806	+	ENSG00000088926.13	protein_coding	FXI|PTA	4q35.2	coagulation factor XI	This gene encodes coagulation factor XI of the blood coagulation cascade. This protein is present in plasma as a zymogen, which is a unique plasma coagulation enzyme because it exists as a homodimer consisting of two identical polypeptide chains linked by disulfide bonds. During activation of the plasma factor XI, an internal peptide bond is cleaved by factor XIIa (or XII) in each of the two chains, resulting in activated factor XIa, a serine protease composed of two heavy and two light chains held together by disulfide bonds. This activated plasma factor XI triggers the middle phase of the intrisic pathway of blood coagulation by activating factor IX. Defects in this factor lead to Rosenthal syndrome, a blood coagulation abnormality. [provided by RefSeq, Jul 2008]
F11-AS1	chr4	186286094	186500997	-	ENSG00000251165.5	antisense	-	4q35.2	F11 antisense RNA 1	-
F12	chr5	177402140	177409576	-	ENSG00000131187.9	protein_coding	HAE3|HAEX|HAF	5q35.3	coagulation factor XII	This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. [provided by RefSeq, Jul 2008]
F13A1	chr6	6144085	6321013	-	ENSG00000124491.15	protein_coding	F13A	6p25.1	coagulation factor XIII A chain	This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008]
F13B	chr1	197039191	197067267	-	ENSG00000143278.3	protein_coding	FXIIIB	1q31.3	coagulation factor XIII B chain	This gene encodes coagulation factor XIII B subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as a plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon activation by the cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone.  These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008]
F2	chr11	46719180	46739506	+	ENSG00000180210.14	protein_coding	PT|RPRGL2|THPH1	11p11.2	coagulation factor II, thrombin	This gene encodes the prothrombin protein (also known as coagulation factor II). This protein is proteolytically cleaved in multiple steps to form the activated serine protease thrombin. The activated thrombin enzyme plays an important role in thrombosis and hemostasis by converting fibrinogen to fibrin during blood clot formation, by stimulating platelet aggregation, and by activating additional coagulation factors. Thrombin also plays a role in cell proliferation, tissue repair, and angiogenesis as well as maintaining vascular integrity during development and postnatal life. Peptides derived from the C-terminus of this protein have antimicrobial activity against E. coli and P. aeruginosa. Mutations in this gene lead to various forms of thrombosis and dysprothrombinemia. Rapid increases in cytokine levels following coronavirus infections can dysregulate the coagulation cascade and produce thrombosis, compromised blood supply, and organ failure. [provided by RefSeq, May 2020]
F2R	chr5	76716043	76735781	+	ENSG00000181104.6	protein_coding	CF2R|HTR|PAR-1|PAR1|TR	5q13.3	coagulation factor II thrombin receptor	Coagulation factor II receptor is a 7-transmembrane receptor involved in the regulation of thrombotic response. Proteolytic cleavage leads to the activation of the receptor. F2R is a G-protein coupled receptor family member. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
F2RL1	chr5	76818933	76835315	+	ENSG00000164251.4	protein_coding	GPR11|PAR2	5q13.3	F2R like trypsin receptor 1	This gene encodes a member of the G-protein coupled receptor 1 family of proteins. The encoded cell surface receptor is activated through proteolytic cleavage of its extracellular amino terminus, resulting in a new amino terminus that acts as a tethered ligand that binds to an extracellular loop domain. Activation of the receptor has been shown to stimulate vascular smooth muscle relaxation, dilate blood vessels, increase blood flow, and lower blood pressure. This protein is also important in the inflammatory response, as well as innate and adaptive immunity. [provided by RefSeq, Jun 2016]
F2RL2	chr5	76615482	76623434	-	ENSG00000164220.6	protein_coding	PAR-3|PAR3	5q13.3	coagulation factor II thrombin receptor like 2	This gene encodes a member of the protease-activated receptor (PAR) family which is a subfamily of the seven transmembrane G protein-coupled cell surface receptor family. The encoded protein acts as a cofactor in the thrombin-mediated cleavage and activation of the protease-activated receptor family member PAR4. The encoded protein plays an essential role in hemostasis and thrombosis. Alternate splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Feb 2012]
F3	chr1	94529225	94541800	-	ENSG00000117525.13	protein_coding	CD142|TF|TFA	1p21.3	coagulation factor III, tissue factor	This gene encodes coagulation factor III which is a cell surface glycoprotein. This factor enables cells to initiate the blood coagulation cascades, and it functions as the high-affinity receptor for the coagulation factor VII. The resulting complex provides a catalytic event that is responsible for initiation of the coagulation protease cascades by specific limited proteolysis. Unlike the other cofactors of these protease cascades, which circulate as nonfunctional precursors, this factor is a potent initiator that is fully functional when expressed on cell surfaces, for example, on monocytes. There are 3 distinct domains of this factor: extracellular, transmembrane, and cytoplasmic. Platelets and monocytes have been shown to express this coagulation factor under procoagulatory and proinflammatory stimuli, and a major role in HIV-associated coagulopathy has been described. Platelet-dependent monocyte expression of coagulation factor III has been described to be associated with Coronavirus Disease 2019 (COVID-19) severity and mortality. This protein is the only one in the coagulation pathway for which a congenital deficiency has not been described. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Aug 2020]
FAAH	chr1	46394265	46413848	+	ENSG00000117480.15	protein_coding	FAAH-1|PSAB	1p33	fatty acid amide hydrolase	This gene encodes a protein that is responsible for the hydrolysis of a number of primary and secondary fatty acid amides, including the neuromodulatory compounds anandamide and oleamide. [provided by RefSeq, Jul 2008]
FAAH2	chrX	57286706	57489196	+	ENSG00000165591.6	protein_coding	AMDD	Xp11.21	fatty acid amide hydrolase 2	This gene encodes a fatty acid amide hydrolase that shares a conserved protein motif with the amidase signature family of enzymes. The encoded enzyme is able to catalyze the hydrolysis of a broad range of bioactive lipids, including those from the three main classes of fatty acid amides; N-acylethanolamines, fatty acid primary amides and N-acyl amino acids. This enzyme has a preference for monounsaturated acyl chains as a substrate. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
FAAHP1	chr1	46432129	46482493	+	ENSG00000232022.7	transcribed_unprocessed_pseudogene	FAAH-OUT|FAAHOUT|LINC00505	1p33	fatty acid amide hydrolase pseudogene 1	Low expression observed in reference dataset
FAAP100	chr17	81539885	81553961	-	ENSG00000185504.16	protein_coding	C17orf70	17q25.3	FA core complex associated protein 100	FAAP100 is a component of the Fanconi anemia (FA; MIM 277650) core complex and is required for core complex stability and FANCD2 (see MIM 227646) monoubiquitination (Ling et al., 2007 [PubMed 17396147]).[supplied by OMIM, Mar 2008]
FAAP20	chr1	2184461	2212720	-	ENSG00000162585.16	protein_coding	C1orf86|FP7162	1p36.33	FA core complex associated protein 20	Ubiquitous expression in testis (RPKM 2.9), brain (RPKM 2.8) and 25 other tissues
FAAP24	chr19	32972209	32978222	+	ENSG00000131944.9	protein_coding	C19orf40	19q13.11	FA core complex associated protein 24	FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]
FABP2	chr4	119317250	119322390	-	ENSG00000145384.3	protein_coding	FABPI|I-FABP	4q26	fatty acid binding protein 2	The protein encoded by this gene is an intracellular fatty acid-binding protein that participates in the uptake, intracellular metabolism, and transport of long-chain fatty acids. The encoded protein is also involved in the modulation of cell growth and proliferation. This protein binds saturated long-chain fatty acids with high affinity, and may act as a lipid sensor to maintain energy homeostasis. [provided by RefSeq, Aug 2017]
FABP3	chr1	31365625	31376850	-	ENSG00000121769.7	protein_coding	FABP11|H-FABP|M-FABP|MDGI|O-FABP	1p35.2	fatty acid binding protein 3	The intracellular fatty acid-binding proteins (FABPs) belongs to a multigene family. FABPs are divided into at least three distinct types, namely the hepatic-, intestinal- and cardiac-type. They form 14-15 kDa proteins and are thought to participate in the uptake, intracellular metabolism and/or transport of long-chain fatty acids. They may also be responsible in the modulation of cell growth and proliferation. Fatty acid-binding protein 3 gene contains four exons and its function is to arrest growth of mammary epithelial cells. This gene is a candidate tumor suppressor gene for human breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
FABP4	chr8	81478419	81483263	-	ENSG00000170323.8	protein_coding	A-FABP|AFABP|ALBP|HEL-S-104|aP2	8q21.13	fatty acid binding protein 4	FABP4 encodes the fatty acid binding protein found in adipocytes.  Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. [provided by RefSeq, Jul 2008]
FABP5	chr8	81280363	81284777	+	ENSG00000164687.10	protein_coding	E-FABP|EFABP|KFABP|PA-FABP|PAFABP	8q21.13	fatty acid binding protein 5	This gene encodes the fatty acid binding protein found in epidermal cells, and was first identified as being upregulated in psoriasis tissue. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABPs may play roles in fatty acid uptake, transport, and metabolism. Polymorphisms in this gene are associated with type 2 diabetes. The human genome contains many pseudogenes similar to this locus.[provided by RefSeq, Feb 2011]
FABP5P14	chr2	216805737	216806129	-	ENSG00000234588.1	processed_pseudogene	FABP5L14	2q35	fatty acid binding protein 5 pseudogene 14	-
FABP5P7	chr11	59781318	59781722	-	ENSG00000234964.4	processed_pseudogene	FABP5L7	11q12.1	fatty acid binding protein 5 pseudogene 7	-
FABP6	chr5	160187367	160238735	+	ENSG00000170231.15	protein_coding	I-15P|I-BABP|I-BALB|I-BAP|ILBP|ILBP3|ILLBP	5q33.3	fatty acid binding protein 6	This gene encodes the ileal fatty acid binding protein. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. FABP6 and FABP1 (the liver fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism. Transcript variants generated by alternate transcription promoters and/or alternate splicing have been found for this gene. [provided by RefSeq, Jul 2008]
FABP7	chr6	122779475	122784074	+	ENSG00000164434.11	protein_coding	B-FABP|BLBP|FABPB|MRG	6q22.31	fatty acid binding protein 7	The gene encodes a small, highly conserved cytoplasmic protein that bind long-chain fatty acids and other hydrophobic ligands. The encoded protein is important in the establishment of the radial glial fiber in the developing brain. Alternative splicing and promoter usage results in multiple transcript variants encoding different isoforms. Pseudogenes of this gene are found on multiple chromosomes. [provided by RefSeq, Jan 2016]
FABP7P1	chr1	243624666	243625056	-	ENSG00000226766.1	processed_pseudogene	-	1q44	fatty acid binding protein 7 pseudogene 1	-
FADD	chr11	70203163	70207390	+	ENSG00000168040.4	protein_coding	GIG3|MORT1	11q13.3	Fas associated via death domain	The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C-terminal death domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it participates in the death signaling initiated by these receptors. Interaction of this protein with the receptors unmasks the N-terminal effector domain of this protein, which allows it to recruit caspase-8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance of this protein in early T cell development. [provided by RefSeq, Jul 2008]
FADS1	chr11	61799625	61829318	-	ENSG00000149485.18	protein_coding	D5D|FADS6|FADSD5|LLCDL1|TU12	11q12.2	fatty acid desaturase 1	The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]
FADS2	chr11	61792980	61867354	+	ENSG00000134824.13	protein_coding	D6D|DES6|FADSD6|LLCDL2|SLL0262|TU13	11q12.2	fatty acid desaturase 2	The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
FADS3	chr11	61873519	61892051	-	ENSG00000221968.8	protein_coding	CYB5RP|LLCDL3	11q12.2	fatty acid desaturase 3	The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]
FADS6	chr17	74877299	74893781	-	ENSG00000172782.11	protein_coding	FP18279	17q25.1	fatty acid desaturase 6	Biased expression in small intestine (RPKM 1.8), duodenum (RPKM 1.4) and 9 other tissues
FAF1	chr1	50437028	50960263	-	ENSG00000185104.19	protein_coding	CGI-03|HFAF1s|UBXD12|UBXN3A|hFAF1	1p32.3	Fas associated factor 1	Interaction of Fas ligand (TNFSF6) with the FAS antigen (TNFRSF6) mediates programmed cell death, also called apoptosis, in a number of organ systems. The protein encoded by this gene binds to FAS antigen and can initiate apoptosis or enhance apoptosis initiated through FAS antigen. Initiation of apoptosis by the protein encoded by this gene requires a ubiquitin-like domain but not the FAS-binding domain. [provided by RefSeq, Jul 2008]
FAF2	chr5	176447628	176510074	+	ENSG00000113194.12	protein_coding	ETEA|UBXD8|UBXN3B	5q35.2	Fas associated factor family member 2	The protein encoded by this gene is highly expressed in peripheral blood of patients with atopic dermatitis (AD), compared to normal individuals. It may play a role in regulating the resistance to apoptosis that is observed in T cells and eosinophils of AD patients. [provided by RefSeq, Jul 2008]
FAH	chr15	80152490	80186946	+	ENSG00000103876.11	protein_coding	-	15q25.1	fumarylacetoacetate hydrolase	Broad expression in liver (RPKM 62.1), fat (RPKM 60.9) and 20 other tissues
FAHD1	chr16	1826941	1840207	+	ENSG00000180185.11	protein_coding	C16orf36|YISKL	16p13.3	fumarylacetoacetate hydrolase domain containing 1	Broad expression in kidney (RPKM 20.6), liver (RPKM 9.9) and 23 other tissues
FAHD2A	chr2	95402721	95416616	+	ENSG00000115042.9	protein_coding	CGI-105	2q11.1	fumarylacetoacetate hydrolase domain containing 2A	Ubiquitous expression in testis (RPKM 6.4), thyroid (RPKM 6.0) and 25 other tissues
FAHD2B	chr2	97083583	97094882	-	ENSG00000144199.11	protein_coding	-	2q11.2	fumarylacetoacetate hydrolase domain containing 2B	-
FAHD2CP	chr2	96010551	96023380	+	ENSG00000231584.8	transcribed_unprocessed_pseudogene	-	2q11.2	fumarylacetoacetate hydrolase domain containing 2C, pseudogene	-
FAIM	chr3	138608606	138633376	+	ENSG00000158234.12	protein_coding	FAIM1	3q22.3	Fas apoptotic inhibitory molecule	The protein encoded by this gene protects against death receptor-triggered apoptosis and regulates B-cell signaling and differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
FAIM2	chr12	49866896	49904217	-	ENSG00000135472.8	protein_coding	LFG|LFG2|NGP35|NMP35|TMBIM2	12q13.12	Fas apoptotic inhibitory molecule 2	Biased expression in brain (RPKM 125.6) and adrenal (RPKM 12.3)
FALEC	chr1	150515757	150518032	+	ENSG00000228126.1	lincRNA	FAL1|LINC00568|ncRNA-a1	1q21.2	focally amplified long non-coding RNA in epithelial cancer	Low expression observed in reference dataset
FAM102A	chr9	127940579	127980513	-	ENSG00000167106.11	protein_coding	C9orf132|EEIG1|SYM-3A|bA203J24.7	9q34.11	family with sequence similarity 102 member A	Ubiquitous expression in stomach (RPKM 55.4), small intestine (RPKM 33.1) and 25 other tissues
FAM102B	chr1	108560089	108644900	+	ENSG00000162636.15	protein_coding	SYM-3B	1p13.3	family with sequence similarity 102 member B	Ubiquitous expression in brain (RPKM 11.6), gall bladder (RPKM 11.3) and 24 other tissues
FAM104A	chr17	73207353	73236753	-	ENSG00000133193.12	protein_coding	-	17q25.1	family with sequence similarity 104 member A	-
FAM106A	chr17	18524566	18526846	-	ENSG00000213077.5	protein_coding	-	17p11.2	family with sequence similarity 106 member A	-
FAM107B	chr10	14518557	14774897	-	ENSG00000065809.13	protein_coding	C10orf45|HITS	10p13	family with sequence similarity 107 member B	Ubiquitous expression in lymph node (RPKM 45.0), kidney (RPKM 31.4) and 23 other tissues
FAM110A	chr20	833715	857463	+	ENSG00000125898.12	protein_coding	C20orf55|F10|bA371L19.3	20p13	family with sequence similarity 110 member A	Broad expression in skin (RPKM 6.2), spleen (RPKM 5.8) and 23 other tissues
FAM110C	chr2	38814	46870	-	ENSG00000184731.5	protein_coding	-	2p25.3	family with sequence similarity 110 member C	-
FAM110D	chr1	26159020	26163962	+	ENSG00000197245.5	protein_coding	GRRP1	1p36.11	family with sequence similarity 110 member D	Broad expression in fat (RPKM 4.8), lung (RPKM 1.8) and 21 other tissues
FAM111A	chr11	59142748	59155039	+	ENSG00000166801.15	protein_coding	GCLEB|KCS2	11q12.1	FAM111 trypsin like peptidase A	The protein encoded by this gene is cell-cycle regulated, and has nuclear localization. The C-terminal half of the protein shares homology with trypsin-like peptidases and it contains a PCNA-interacting peptide (PIP) box, that is necessary for its co-localization with proliferating cell nuclear antigen (PCNA). Reduced expression of this gene resulted in DNA replication defects, consistent with the demonstrated role for this gene in Simian Virus 40 (SV40) viral replication. Mutations in this gene have been associated with Kenny-Caffey syndrome (KCS) type 2 and the more severe osteocraniostenosis (OCS, also known as Gracile Bone Dysplasia), both characterized by short stature, hypoparathyroidism, bone development abnormalities, and hypocalcemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
FAM111B	chr11	59107185	59127410	+	ENSG00000189057.10	protein_coding	CANP|POIKTMP	11q12.1	FAM111 trypsin like peptidase B	This gene encodes a protein with a trypsin-like cysteine/serine peptidase domain in the C-terminus. Mutations in this gene are associated with an autosomal dominant form of hereditary fibrosing poikiloderma (HFP). Affected individuals display mottled pigmentation, telangiectasia, epidermal atrophy, tendon contractures, and progressive pulmonary fibrosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A paralog of this gene which also has a trypsin&#8208;like peptidase domain, FAM111A, is located only 16 kb from this gene on human chromosome 11q12.1. [provided by RefSeq, Apr 2014]
FAM114A1	chr4	38867677	38945739	+	ENSG00000197712.11	protein_coding	Noxp20	4p14	family with sequence similarity 114 member A1	The protein encoded by this gene belongs to the FAM114 family and may play a role in neuronal cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]
FAM114A2	chr5	153990128	154038936	-	ENSG00000055147.18	protein_coding	133K02|C5orf3	5q33.2	family with sequence similarity 114 member A2	Ubiquitous expression in testis (RPKM 7.5), thyroid (RPKM 3.3) and 25 other tissues
FAM117A	chr17	49710332	49789180	-	ENSG00000121104.7	protein_coding	-	17q21.33	family with sequence similarity 117 member A	-
FAM117B	chr2	202635188	202769757	+	ENSG00000138439.11	protein_coding	ALS2CR13	2q33.2	family with sequence similarity 117 member B	Ubiquitous expression in testis (RPKM 4.9), adrenal (RPKM 4.8) and 25 other tissues
FAM118A	chr22	45308968	45341955	+	ENSG00000100376.11	protein_coding	C22orf8	22q13.31	family with sequence similarity 118 member A	Enables identical protein binding activity. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
FAM118B	chr11	126211414	126262986	+	ENSG00000197798.8	protein_coding	-	11q24.2	family with sequence similarity 118 member B	-
FAM120A	chr9	93451722	93566107	+	ENSG00000048828.16	protein_coding	C9orf10|HBVPTPAP|OSSA	9q22.31	family with sequence similarity 120A	Ubiquitous expression in colon (RPKM 25.6), appendix (RPKM 19.9) and 25 other tissues
FAM120AOS	chr9	93446494	93453592	-	ENSG00000188938.15	protein_coding	C9orf10OS	9q22.31	family with sequence similarity 120A opposite strand	Differences in the expression level of this gene are associated with the survival rate of those with glioma. [provided by RefSeq, May 2017]
FAM120B	chr6	170290703	170407065	+	ENSG00000112584.13	protein_coding	CCPG|KIAA1838|PGCC1|SAN1|dJ894D12.1	6q27	family with sequence similarity 120B	Ubiquitous expression in brain (RPKM 5.9), thyroid (RPKM 5.7) and 25 other tissues
FAM124A	chr13	51222334	51284241	+	ENSG00000150510.16	protein_coding	-	13q14.3	family with sequence similarity 124 member A	-
FAM124B	chr2	224378698	224402085	-	ENSG00000124019.9	protein_coding	-	2q36.2	family with sequence similarity 124 member B	-
FAM126A	chr7	22889371	23014130	-	ENSG00000122591.11	protein_coding	DRCTNNB1A|HCC|HLD5|HYCC1	7p15.3	family with sequence similarity 126 member A	The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital cataract (HCC). [provided by RefSeq, Oct 2008]
FAM126B	chr2	200973718	201071671	-	ENSG00000155744.9	protein_coding	HYCC2	2q33.1	family with sequence similarity 126 member B	Ubiquitous expression in brain (RPKM 5.2), fat (RPKM 4.3) and 25 other tissues
FAM131A	chr3	184335926	184348421	+	ENSG00000175182.14	protein_coding	C3orf40|FLAT715|PRO1378	3q27.1	family with sequence similarity 131 member A	Ubiquitous expression in brain (RPKM 19.8), adrenal (RPKM 6.0) and 23 other tissues
FAM131B	chr7	143353400	143362770	-	ENSG00000159784.17	protein_coding	-	7q34	family with sequence similarity 131 member B	-
FAM131C	chr1	16057769	16073632	-	ENSG00000185519.8	protein_coding	C1orf117	1p36.13	family with sequence similarity 131 member C	Biased expression in kidney (RPKM 2.5), brain (RPKM 1.7) and 10 other tissues
FAM133B	chr7	92560793	92590394	-	ENSG00000234545.7	protein_coding	-	7q21.2	family with sequence similarity 133 member B	-
FAM135A	chr6	70412941	70561174	+	ENSG00000082269.16	protein_coding	KIAA1411	6q13	family with sequence similarity 135 member A	Broad expression in esophagus (RPKM 17.6), prostate (RPKM 12.9) and 22 other tissues
FAM136A	chr2	70295975	70302090	-	ENSG00000035141.7	protein_coding	-	2p13.3	family with sequence similarity 136 member A	Ubiquitous expression in duodenum (RPKM 18.8), thyroid (RPKM 18.0) and 25 other tissues
FAM13A	chr4	88725955	89111398	-	ENSG00000138640.14	protein_coding	ARHGAP48|FAM13A1	4q22.1	family with sequence similarity 13 member A	Ubiquitous expression in fat (RPKM 21.4), thyroid (RPKM 14.6) and 25 other tissues
FAM13B	chr5	137937960	138051961	-	ENSG00000031003.10	protein_coding	ARHGAP49|C5orf5|FAM13B1|KHCHP|N61	5q31.2	family with sequence similarity 13 member B	Ubiquitous expression in testis (RPKM 17.1), endometrium (RPKM 11.7) and 25 other tissues
FAM13C	chr10	59246129	59363181	-	ENSG00000148541.12	protein_coding	FAM13C1	10q21.1	family with sequence similarity 13 member C	Broad expression in brain (RPKM 29.0), adrenal (RPKM 16.8) and 21 other tissues
FAM149A	chr4	186104419	186172667	+	ENSG00000109794.13	protein_coding	MST119|MSTP119	4q35.1	family with sequence similarity 149 member A	Broad expression in kidney (RPKM 4.2), liver (RPKM 2.3) and 22 other tissues
FAM149B1	chr10	73168166	73244504	+	ENSG00000138286.14	protein_coding	JBTS36|KIAA0974	10q22.2	family with sequence similarity 149 member B1	Ubiquitous expression in testis (RPKM 10.1), brain (RPKM 6.8) and 25 other tissues
FAM151A	chr1	54609182	54623556	-	ENSG00000162391.11	protein_coding	C1orf179	-	family with sequence similarity 151 member A	Biased expression in kidney (RPKM 135.9), small intestine (RPKM 34.8) and 1 other tissue
FAM153A	chr5	177707981	177783398	-	ENSG00000170074.19	protein_coding	NY-REN-7	5q35.3	family with sequence similarity 153 member A	Biased expression in testis (RPKM 10.8), spleen (RPKM 4.8) and 7 other tissues
FAM153B	chr5	176060689	176132258	+	ENSG00000182230.11	protein_coding	-	5q35.2	family with sequence similarity 153 member B	-
FAM153CP	chr5	 178007692	178063588	+	ENSG00000204677	pseudogene	FAM153C|NY-REN-7-like	5q35.3	protein FAM153C	FAM153C; NY-REN-7-like
FAM157B	chr9	138217068	138253217	+	ENSG00000233013.9	transcribed_unprocessed_pseudogene	-	9q34.3	family with sequence similarity 157 member B	-
FAM157C	chr16	90102271	90178344	+	ENSG00000260528.4	lincRNA	-	16q24.3	family with sequence similarity 157 member C	-
FAM161A	chr2	61824854	61854143	-	ENSG00000170264.12	protein_coding	RP28	2p15	FAM161 centrosomal protein A	This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that its activity is restricted to mature photoreceptors after birth. Mutations in this gene cause autosomal recessive retinitis pigmentosa-28. Alternatively spliced transcript variants have been identified.[provided by RefSeq, Jan 2011]
FAM161B	chr14	73931501	73950414	-	ENSG00000156050.8	protein_coding	C14orf44|c14_5547	14q24.3	FAM161 centrosomal protein B	Ubiquitous expression in testis (RPKM 8.1), brain (RPKM 7.4) and 25 other tissues
FAM162A	chr3	122384176	122412334	+	ENSG00000114023.15	protein_coding	C3orf28|E2IG5|HGTD-P	3q21.1	family with sequence similarity 162 member A	Ubiquitous expression in colon (RPKM 86.7), esophagus (RPKM 60.9) and 25 other tissues
FAM162B	chr6	116752197	116765723	-	ENSG00000183807.7	protein_coding	C6orf189|bA86F4.2	6q22.1	family with sequence similarity 162 member B	Biased expression in placenta (RPKM 28.7), lung (RPKM 9.9) and 9 other tissues
FAM166A	chr9	137243584	137247770	-	ENSG00000188163.7	protein_coding	HSD46	9q34.3	family with sequence similarity 166 member A	Broad expression in duodenum (RPKM 20.3), testis (RPKM 18.9) and 21 other tissues
FAM166AP4	chr1	227509028	227510618	-	ENSG00000227711.3	unprocessed_pseudogene	-	-	-	-
FAM166B	chr9	35561831	35563899	-	ENSG00000215187.10	protein_coding	-	9p13.3	family with sequence similarity 166 member B	-
FAM166C	chr2	 26562587	26579524	+	ENSG00000173557	protein-coding	C2orf70	2p23.3	family with sequence similarity 166 member C	Biased expression in testis (RPKM 1.4), stomach (RPKM 0.9) and 7 other tissues
FAM167A	chr8	11421463	11474715	-	ENSG00000154319.14	protein_coding	C8orf13|D8S265|DIORA-1	8p23.1	family with sequence similarity 167 member A	Biased expression in thyroid (RPKM 28.9), brain (RPKM 11.5) and 4 other tissues
FAM167A-AS1	chr8	11368402	11438658	+	ENSG00000184608.8	antisense	C8orf12	8p23.1	FAM167A antisense RNA 1	Low expression observed in reference dataset
FAM167B	chr1	32247233	32248856	+	ENSG00000183615.5	protein_coding	C1orf90|DIORA-2	1p35.2	family with sequence similarity 167 member B	Broad expression in kidney (RPKM 5.2), lung (RPKM 3.9) and 21 other tissues
FAM168A	chr11	73400487	73598189	-	ENSG00000054965.10	protein_coding	KIAA0280|TCRP1	11q13.4	family with sequence similarity 168 member A	Ubiquitous expression in brain (RPKM 45.1), gall bladder (RPKM 10.1) and 24 other tissues
FAM169A	chr5	74777574	74866951	-	ENSG00000198780.11	protein_coding	SLAP75	5q13.3	family with sequence similarity 169 member A	Broad expression in brain (RPKM 10.3), testis (RPKM 7.3) and 15 other tissues
FAM169B	chr15	98437162	98547728	-	ENSG00000283597.2	protein_coding	-	15q26.3	protein FAM169B	Low expression observed in reference dataset
FAM170B	chr10	49131154	49134008	-	ENSG00000172538.6	protein_coding	C10orf73	10q11.23	family with sequence similarity 170 member B	Restricted expression toward testis (RPKM 3.2)
FAM171A2	chr17	44353215	44363875	-	ENSG00000161682.14	protein_coding	-	17q21.31	family with sequence similarity 171 member A2	-
FAM171B	chr2	186693971	186765965	+	ENSG00000144369.12	protein_coding	KIAA1946	2q32.1	family with sequence similarity 171 member B	Biased expression in brain (RPKM 53.2), adrenal (RPKM 8.4) and 4 other tissues
FAM172A	chr5	93618069	94111699	-	ENSG00000113391.18	protein_coding	C5orf21|Toupee	5q15	family with sequence similarity 172 member A	Ubiquitous expression in thyroid (RPKM 1.6), brain (RPKM 1.6) and 25 other tissues
FAM172BP	chr3	101521891	101522979	+	ENSG00000175841.8	processed_pseudogene	FAM172B	3q12.3	family with sequence similarity 172 member B, pseudogene	Predicted to contribute to siRNA binding activity. Predicted to be involved in heterochromatin assembly by small RNA. Predicted to be integral component of membrane. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
FAM174A	chr5	100535305	100586741	+	ENSG00000174132.8	protein_coding	HGS_RE408|NS5ATP6|TMEM157|UNQ1912	5q21.1	family with sequence similarity 174 member A	Ubiquitous expression in testis (RPKM 14.8), adrenal (RPKM 11.0) and 25 other tissues
FAM174B	chr15	92617443	92809884	-	ENSG00000185442.12	protein_coding	-	15q26.1	family with sequence similarity 174 member B	-
FAM174C	chr19	 1275530	1279228	+	ENSG00000228300	protein-coding	C19orf24	19p13.3	family with sequence similarity 174 member C	Ubiquitous expression in fat (RPKM 14.6), kidney (RPKM 13.8) and 25 other tissues
FAM177A1	chr14	35044907	35113130	+	ENSG00000151327.12	protein_coding	C14orf24	14q13.2	family with sequence similarity 177 member A1	This gene encodes a member of a conserved protein family. Alternative splicing results in multiple transcript variants. This gene is thought to be associated with susceptibility to juvenile idiopathic arthritis. [provided by RefSeq, Apr 2017]
FAM177B	chr1	222737207	222750805	+	ENSG00000197520.10	protein_coding	-	1q41	family with sequence similarity 177 member B	-
FAM178B	chr2	96875882	96986592	-	ENSG00000168754.14	protein_coding	-	2q11.2	family with sequence similarity 178 member B	-
FAM180A	chr7	135728348	135748846	-	ENSG00000189320.8	protein_coding	UNQ1940	7q33	family with sequence similarity 180 member A	Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
FAM180B	chr11	47586693	47589194	+	ENSG00000196666.4	protein_coding	-	11p11.2	family with sequence similarity 180 member B	-
FAM182A	chr20	26054655	26086917	+	ENSG00000125804.13	processed_transcript	C20orf91|C20orf91A	20p11.1	family with sequence similarity 182 member A	Biased expression in brain (RPKM 1.5), testis (RPKM 0.8) and 9 other tissues
FAM182B	chr20	25763466	25868225	-	ENSG00000175170.14	protein_coding	-	20p11.1	family with sequence similarity 182 member B	-
FAM183A	chr1	43145153	43156396	+	ENSG00000186973.10	protein_coding	-	1p34.2	family with sequence similarity 183 member A	Biased expression in skin (RPKM 1.4), lung (RPKM 1.0) and 5 other tissues
FAM183BP	chr7	38685346	38687037	-	ENSG00000164556.7	processed_pseudogene	FAM183B|THEG6	7p14.1	acyloxyacyl hydrolase (neutrophil)	THEG6; FAM183B
FAM183DP	chr2	102249857	102250255	-	ENSG00000205716.4	processed_pseudogene	-	2q12.1	family with sequence similarity 183 member D, pseudogene	-
FAM184A	chr6	118959763	119149387	-	ENSG00000111879.18	protein_coding	C6orf60	6q22.31	family with sequence similarity 184 member A	Broad expression in testis (RPKM 10.2), placenta (RPKM 7.8) and 17 other tissues
FAM184B	chr4	17629306	17781512	-	ENSG00000047662.4	protein_coding	-	4p15.32-p15.31	family with sequence similarity 184 member B	-
FAM185A	chr7	102748971	102809225	+	ENSG00000222011.8	protein_coding	-	7q22.1	family with sequence similarity 185 member A	-
FAM185BP	chr7	77083886	77122116	-	ENSG00000214439.3	unprocessed_pseudogene	FAM185B	7q11.23	family with sequence similarity 185, member A pseudogene	-
FAM186A	chr12	50326230	50396622	-	ENSG00000185958.9	protein_coding	-	12q13.12	family with sequence similarity 186 member A	-
FAM186B	chr12	49582885	49605639	-	ENSG00000135436.8	protein_coding	C12orf25	12q13.12	family with sequence similarity 186 member B	This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
FAM187A	chr17	44899712	44905390	+	ENSG00000214447.4	protein_coding	-	17q21.31	family with sequence similarity 187 member A	-
FAM187B2P	chr19	35232291	35233003	-	ENSG00000262497.1	unprocessed_pseudogene	-	19q13.12	family with sequence similarity 187, member B pseudogene	-
FAM189A2	chr9	69324572	69392455	+	ENSG00000135063.17	protein_coding	C9orf61|ENTREP|X123	9q21.12	family with sequence similarity 189 member A2	Broad expression in thyroid (RPKM 15.5), lung (RPKM 12.0) and 14 other tissues
FAM189B	chr1	155247205	155255483	-	ENSG00000160767.20	protein_coding	C1orf2|COTE1	1q22	family with sequence similarity 189 member B	This gene is located near the gene for the lysosomal enzyme glucosylceramidase; a deficiency in this enzyme is associated with Gaucher disease. The encoded protein has been identified as a potential binding partner of a WW domain-containing protein which is involved in apoptosis and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
FAM193A	chr4	2536631	2732565	+	ENSG00000125386.15	protein_coding	C4orf8|RES4-22	4p16.3	family with sequence similarity 193 member A	Ubiquitous expression in testis (RPKM 11.8), ovary (RPKM 5.7) and 25 other tissues
FAM193B	chr5	177519788	177554541	-	ENSG00000146067.15	protein_coding	IRIZIO	5q35.3	family with sequence similarity 193 member B	Ubiquitous expression in spleen (RPKM 18.5), skin (RPKM 16.9) and 25 other tissues
FAM200A	chr7	99546308	99558536	-	ENSG00000221909.2	protein_coding	C7orf38	7q22.1	family with sequence similarity 200 member A	This gene encodes a protein of unknown function. The protein is weakly similar to transposase-like proteins in human and mouse. [provided by RefSeq, Jul 2008]
FAM200B	chr4	15681662	15705565	+	ENSG00000237765.6	protein_coding	C4orf53	4p15.32	family with sequence similarity 200 member B	Ubiquitous expression in brain (RPKM 6.0), thyroid (RPKM 5.5) and 25 other tissues
FAM205A	chr9	34723055	34729467	-	ENSG00000205108.5	protein_coding	C9orf144B	9p13.3	family with sequence similarity 205 member A	Restricted expression toward testis (RPKM 19.0)
FAM209B	chr20	56533246	56536520	+	ENSG00000213714.1	protein_coding	C20orf107|dJ1153D9.4	20q13.31	family with sequence similarity 209 member B	Restricted expression toward testis (RPKM 8.4)
FAM20A	chr17	68535113	68601389	-	ENSG00000108950.11	protein_coding	AI1G|AIGFS|FP2747	17q24.2	FAM20A golgi associated secretory pathway pseudokinase	This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
FAM20B	chr1	179025804	179076562	+	ENSG00000116199.11	protein_coding	gxk1	1q25.2	FAM20B glycosaminoglycan xylosylkinase	Ubiquitous expression in adrenal (RPKM 13.7), brain (RPKM 12.6) and 25 other tissues
FAM20C	chr7	192969	260745	+	ENSG00000177706.8	protein_coding	DMP-4|DMP4|G-CK|GEF-CK|RNS	7p22.3	FAM20C golgi associated secretory pathway kinase	This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome. [provided by RefSeq, Apr 2014]
FAM210A	chr18	13663347	13726663	-	ENSG00000177150.12	protein_coding	C18orf19|HsT2329	18p11.21	family with sequence similarity 210 member A	Ubiquitous expression in heart (RPKM 6.1), testis (RPKM 3.9) and 25 other tissues
FAM210B	chr20	56358915	56368663	+	ENSG00000124098.9	protein_coding	5A3|C20orf108|dJ1167H4.1	20q13.2	family with sequence similarity 210 member B	Ubiquitous expression in ovary (RPKM 51.5), adrenal (RPKM 50.1) and 25 other tissues
FAM214A	chr15	52581317	52709817	-	ENSG00000047346.12	protein_coding	KIAA1370	15q21.2-q21.3	family with sequence similarity 214 member A	Ubiquitous expression in fat (RPKM 18.5), testis (RPKM 13.2) and 25 other tissues
FAM214B	chr9	35104112	35116341	-	ENSG00000005238.19	protein_coding	KIAA1539	9p13.3	family with sequence similarity 214 member B	Ubiquitous expression in bone marrow (RPKM 10.7), spleen (RPKM 6.4) and 24 other tissues
FAM215B	chr17	46558830	46562795	-	ENSG00000232300.1	lincRNA	ARL17A-IT1	17q21.31	family with sequence similarity 215 member B	-
FAM216A	chr12	110468364	110490385	+	ENSG00000204856.11	protein_coding	C12orf24|HSU79274	12q24.11	family with sequence similarity 216 member A	Biased expression in testis (RPKM 25.9), brain (RPKM 7.8) and 12 other tissues
FAM216B	chr13	42781550	42791549	+	ENSG00000179813.6	protein_coding	C13orf30	13q14.11	family with sequence similarity 216 member B	Biased expression in lung (RPKM 8.2), heart (RPKM 4.2) and 3 other tissues
FAM217B	chr20	59933764	59948680	+	ENSG00000196227.10	protein_coding	C20orf177|dJ551D2.5	20q13.33	family with sequence similarity 217 member B	Ubiquitous expression in brain (RPKM 13.3), testis (RPKM 5.2) and 23 other tissues
FAM219A	chr9	34398184	34458570	-	ENSG00000164970.14	protein_coding	C9orf25	9p13.3	family with sequence similarity 219 member A	The protein encoded by this gene has homologs that have been identified in mouse, macaque, etc organisms. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Dec 2010]
FAM219B	chr15	74899987	74907121	-	ENSG00000178761.14	protein_coding	C15orf17	15q24.1-q24.2	family with sequence similarity 219 member B	Ubiquitous expression in fat (RPKM 16.4), prostate (RPKM 16.2) and 25 other tissues
FAM21FP	chr10	45706431	45727231	-	ENSG00000237840.6	transcribed_unprocessed_pseudogene	-	10q11.22	family with sequence similarity 21 member F, pseudogene	-
FAM220A	chr7	6329409	6348981	-	ENSG00000178397.12	protein_coding	ACPIN1|C7orf70|SIPAR	7p22.1	family with sequence similarity 220 member A	Broad expression in testis (RPKM 42.1), brain (RPKM 9.5) and 22 other tissues
FAM221A	chr7	23680130	23703249	+	ENSG00000188732.10	protein_coding	C7orf46	7p15.3	family with sequence similarity 221 member A	Broad expression in testis (RPKM 6.7), stomach (RPKM 4.2) and 25 other tissues
FAM221B	chr9	35816391	35828747	-	ENSG00000204930.9	protein_coding	C9orf128	9p13.3	family with sequence similarity 221 member B	Biased expression in testis (RPKM 2.8) and prostate (RPKM 0.2)
FAM222A	chr12	109714228	109770507	+	ENSG00000139438.5	protein_coding	C12orf34	12q24.11	family with sequence similarity 222 member A	Broad expression in testis (RPKM 6.4), brain (RPKM 5.9) and 16 other tissues
FAM222B	chr17	28755978	28855232	-	ENSG00000173065.13	protein_coding	C17orf63	17q11.2	family with sequence similarity 222 member B	Broad expression in testis (RPKM 12.8), duodenum (RPKM 3.8) and 24 other tissues
FAM227A	chr22	38578120	38656629	-	ENSG00000184949.15	protein_coding	-	22q13.1	family with sequence similarity 227 member A	-
FAM227B	chr15	49326962	49620931	-	ENSG00000166262.15	protein_coding	C15orf33	15q21.2	family with sequence similarity 227 member B	Ubiquitous expression in testis (RPKM 2.0), kidney (RPKM 1.4) and 25 other tissues
FAM228A	chr2	24175069	24200849	+	ENSG00000186453.12	protein_coding	C2orf84	2p23.3	family with sequence similarity 228 member A	Biased expression in testis (RPKM 10.6) and fat (RPKM 1.0)
FAM228B	chr2	24076526	24169640	+	ENSG00000219626.8	protein_coding	-	2p23.3	family with sequence similarity 228 member B	-
FAM229A	chr1	32361270	32364278	-	ENSG00000225828.1	protein_coding	-	1p35.1	family with sequence similarity 229 member A	-
FAM229B	chr6	112087599	112102790	+	ENSG00000203778.7	protein_coding	C6orf225	6q21	family with sequence similarity 229 member B	Biased expression in testis (RPKM 37.5), brain (RPKM 9.0) and 10 other tissues
FAM234A	chr16	234546	268971	+	ENSG00000167930.15	protein_coding	C16orf9|ITFG3|gs19	16p13.3	family with sequence similarity 234 member A	Ubiquitous expression in duodenum (RPKM 28.7), fat (RPKM 21.1) and 25 other tissues
FAM234B	chr12	13044284	13142521	+	ENSG00000084444.13	protein_coding	KIAA1467	12p13.1	family with sequence similarity 234 member B	Broad expression in brain (RPKM 13.4), skin (RPKM 6.0) and 20 other tissues
FAM238A	chr10	 26589865	26594324	+	ENSG00000233261	ncRNA	C10orf50|LINC00264|NCRNA00264|bA128B16.2	10p12.1	family with sequence similarity 238 member A	Restricted expression toward testis (RPKM 7.7)
FAM241A	chr4	 112145454	112195256	+	ENSG00000174749	protein-coding	C4orf32	4q25	family with sequence similarity 241 member A	Ubiquitous expression in fat (RPKM 33.5), placenta (RPKM 13.6) and 23 other tissues
FAM241B	chr10	 69630247	69633596	+	ENSG00000171224	protein-coding	C10orf35	10q22.1	family with sequence similarity 241 member B	Broad expression in brain (RPKM 5.1), testis (RPKM 3.6) and 24 other tissues
FAM25C	chr10	47995355	47999791	-	ENSG00000276430.2	protein_coding	bA164N7.4	10q11.22	family with sequence similarity 25 member C	Biased expression in skin (RPKM 22.8), esophagus (RPKM 4.1) and 2 other tissues
FAM27E3	chr9	67717411	67719178	-	ENSG00000274026.1	transcribed_processed_pseudogene	-	9q21.11	family with sequence similarity 27 member E3	-
FAM30A	chr14	105917979	105932642	+	ENSG00000226777.7	lincRNA	C14orf110|HSPC053|KIAA0125	14q32.33	family with sequence similarity 30 member A	-
FAM32A	chr19	16185380	16192046	+	ENSG00000105058.11	protein_coding	OTAG-12|OTAG12	19p13.11	family with sequence similarity 32 member A	Ubiquitous expression in duodenum (RPKM 31.4), small intestine (RPKM 30.9) and 25 other tissues
FAM3B	chr21	41304212	41357431	+	ENSG00000183844.16	protein_coding	2-21|C21orf11|C21orf76|ORF9|PANDER|PRED44	21q22.3	FAM3 metabolism regulating signaling molecule B	Biased expression in duodenum (RPKM 47.4), small intestine (RPKM 44.3) and 11 other tissues
FAM3C	chr7	121348851	121396364	-	ENSG00000196937.10	protein_coding	GS3786|ILEI	7q31.31	FAM3 metabolism regulating signaling molecule C	This gene is a member of the family with sequence similarity 3 (FAM3) family and encodes a secreted protein with a GG domain. A change in expression of this protein has been noted in pancreatic cancer-derived cells. [provided by RefSeq, Mar 2010]
FAM3D	chr3	58633946	58666848	-	ENSG00000198643.6	protein_coding	EF7|OIT1	3p14.2	FAM3 metabolism regulating signaling molecule D	Biased expression in colon (RPKM 146.4), salivary gland (RPKM 60.2) and 6 other tissues
FAM43A	chr3	194686544	194689037	+	ENSG00000185112.5	protein_coding	-	3q29	family with sequence similarity 43 member A	-
FAM43B	chr1	20552439	20555010	+	ENSG00000183114.7	protein_coding	-	1p36.12	family with sequence similarity 43 member B	-
FAM47E	chr4	76214040	76283780	+	ENSG00000189157.13	protein_coding	-	4q21.1	family with sequence similarity 47 member E	-
FAM47E-STBD1	chr4	76251721	76311129	+	ENSG00000272414.5	protein_coding	FAM47E	4q21.1	FAM47E-STBD1 readthrough	This locus represents naturally occurring read-through transcription between the neighboring FAM47E (family with sequence similarity 47, member E) and STBD1 (starch binding domain 1) genes on chromosome 4. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Jul 2011]
FAM50A	chrX	154444126	154450654	+	ENSG00000071859.14	protein_coding	9F|DXS9928E|HXC-26|HXC26|MRXSA|XAP5	Xq28	family with sequence similarity 50 member A	This gene belongs to the FAM50 family. The encoded protein is highly conserved in length and sequence across different species. It is a basic protein containing a nuclear localization signal, and may function as a DNA-binding protein or a transcriptional factor. [provided by RefSeq, Sep 2009]
FAM53A	chr4	1617915	1684302	-	ENSG00000174137.12	protein_coding	DNTNP	4p16.3	family with sequence similarity 53 member A	Broad expression in testis (RPKM 2.2), thyroid (RPKM 0.5) and 15 other tissues
FAM53B	chr10	124619292	124744269	-	ENSG00000189319.13	protein_coding	KIAA0140|bA12J10.2|smp	10q26.13	family with sequence similarity 53 member B	Ubiquitous expression in lymph node (RPKM 17.7), spleen (RPKM 12.7) and 23 other tissues
FAM53B-AS1	chr10	124703625	124714217	+	ENSG00000233334.3	antisense	-	10q26.13	FAM53B antisense RNA 1	-
FAM53C	chr5	138331935	138349729	+	ENSG00000120709.10	protein_coding	C5orf6	5q31.2	family with sequence similarity 53 member C	The protein encoded by this gene belongs to the FAM53 protein family. FAM53 protein family members bind to a transcriptional regulator that modulates cell proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]
FAM66A	chr8	12362019	12388296	+	ENSG00000227888.4	lincRNA	-	8p23.1	family with sequence similarity 66 member A	-
FAM66D	chr8	12115782	12177550	+	ENSG00000255052.4	antisense	-	8p23.1	family with sequence similarity 66 member D	-
FAM66E	chr8	7955014	8008755	+	ENSG00000225725.4	lincRNA	-	8p23.1	family with sequence similarity 66 member E	-
FAM71A	chr1	212624474	212626778	+	ENSG00000162771.7	protein_coding	GARI-L4	1q32.3	family with sequence similarity 71 member A	This gene encodes a protein that interacts with the Rab2B small GTPase and may be important for integrity of the Golgi body. A knockdown of this gene induces fragmentation of the Golgi, similar to the effect seen with a knockdown of the Rab2B small GTPase. The encoded protein has an N-terminal Rab-binding domain specific for Rab2B. [provided by RefSeq, Feb 2017]
FAM71E2	chr19	55354908	55363260	-	ENSG00000180043.11	protein_coding	C19orf16	19q13.42	family with sequence similarity 71 member E2	Restricted expression toward testis (RPKM 16.6)
FAM72B	chr1	121167646	121185539	-	ENSG00000188610.12	protein_coding	p17	1p11.2	family with sequence similarity 72 member B	Broad expression in lymph node (RPKM 6.0), appendix (RPKM 3.2) and 17 other tissues
FAM72C	chr1	143955364	143971965	-	ENSG00000263513.5	protein_coding	-	1q21.1	family with sequence similarity 72 member C	-
FAM72D	chr1	145096000	145112696	+	ENSG00000215784.5	protein_coding	GCUD2	1q21.1	family with sequence similarity 72 member D	Note: There is a set of highly related genes in the FAM72 set. This instance was annotated as FAM72A in Build 36.2, based on the evaluation that AB096683, used at that time to define FAM72A, aligned best to AL109844.  The definition of FAM72A was changed to the locus on CR407567.2, so this locus was renamed. [13 Feb 2013]
FAM76A	chr1	27725979	27763122	+	ENSG00000009780.15	protein_coding	-	1p35.3	family with sequence similarity 76 member A	-
FAM76B	chr11	95768942	95790409	-	ENSG00000077458.12	protein_coding	-	11q21	family with sequence similarity 76 member B	-
FAM78A	chr9	131258076	131276547	-	ENSG00000126882.12	protein_coding	C9orf59	9q34.13	family with sequence similarity 78 member A	Broad expression in lymph node (RPKM 10.3), spleen (RPKM 9.5) and 20 other tissues
FAM78B	chr1	166057426	166166969	-	ENSG00000188859.6	protein_coding	-	1q24.1	family with sequence similarity 78 member B	-
FAM81A	chr15	59372693	59523549	+	ENSG00000157470.11	protein_coding	-	15q22.2	family with sequence similarity 81 member A	-
FAM83B	chr6	54846771	54942022	+	ENSG00000168143.8	protein_coding	C6orf143	6p12.1	family with sequence similarity 83 member B	Biased expression in skin (RPKM 10.9), esophagus (RPKM 6.8) and 12 other tissues
FAM83C	chr20	35285731	35292401	-	ENSG00000125998.7	protein_coding	C20orf128|dJ614O4.7	20q11.22	family with sequence similarity 83 member C	This gene encodes a member of the family with sequence similarity 83 protein family. The encoded protein may be involved in regulating MAPK signaling in cancer cells. [provided by RefSeq, Mar 2017]
FAM83D	chr20	38926312	38953106	+	ENSG00000101447.14	protein_coding	C20orf129|CHICA|dJ616B8.3	20q11.23	family with sequence similarity 83 member D	Biased expression in esophagus (RPKM 30.9), urinary bladder (RPKM 8.3) and 13 other tissues
FAM83E	chr19	48600810	48614854	-	ENSG00000105523.3	protein_coding	-	19q13.33	family with sequence similarity 83 member E	-
FAM83F	chr22	39994949	40043529	+	ENSG00000133477.16	protein_coding	-	22q13.1	family with sequence similarity 83 member F	-
FAM83H	chr8	143723933	143733801	-	ENSG00000180921.6	protein_coding	AI3|AI3A	8q24.3	family with sequence similarity 83 member H	The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]
FAM85A	chr8	 12185736	12202526	+	-	ncRNA	-	8p23.1	family with sequence similarity 85 member A	-
FAM85B	chr8	8167819	8226614	-	ENSG00000253893.2	antisense	lncRNA-HEIM	8p23.1	family with sequence similarity 85 member B	-
FAM86B1	chr8	12182096	12194133	-	ENSG00000186523.14	protein_coding	-	8p23.1	family with sequence similarity 86 member B1	-
FAM86B2	chr8	12425614	12436343	-	ENSG00000145002.12	protein_coding	-	8p23.1	family with sequence similarity 86 member B2	-
FAM86B3P	chr8	8228595	8244865	+	ENSG00000173295.7	transcribed_unprocessed_pseudogene	-	8p23.1	family with sequence similarity 86, member A pseudogene	Low expression observed in reference dataset
FAM86C1P	chr11	 71787514	71799661	+	ENSG00000158483	unknown	FAM86C|FAM86C1	11q13.4	family with sequence similarity 86 member C1, pseudogene	-
FAM86DP	chr3	75421552	75435110	-	ENSG00000244026.6	transcribed_unprocessed_pseudogene	FAM86D	3p12.3	family with sequence similarity 86 member D, pseudogene	Ubiquitous expression in ovary (RPKM 4.4), endometrium (RPKM 3.2) and 25 other tissues
FAM86GP	chr11	3410352	3422496	-	ENSG00000166492.9	unprocessed_pseudogene	-	11p15.4	family with sequence similarity 86, member A pseudogene	-
FAM86JP	chr3	125916620	125930024	+	ENSG00000171084.15	transcribed_unprocessed_pseudogene	-	3q21.2	family with sequence similarity 86, member A pseudogene	Broad expression in testis (RPKM 1.9), ovary (RPKM 1.5) and 25 other tissues
FAM89A	chr1	231018958	231040246	-	ENSG00000182118.7	protein_coding	C1orf153	1q42.2	family with sequence similarity 89 member A	Broad expression in fat (RPKM 41.2), placenta (RPKM 38.9) and 17 other tissues
FAM89B	chr11	65572349	65574198	+	ENSG00000176973.7	protein_coding	LRAP25|MTVR|MTVR1	11q13.1	family with sequence similarity 89 member B	Ubiquitous expression in ovary (RPKM 17.3), prostate (RPKM 15.4) and 25 other tissues
FAM8A1	chr6	17600355	17611719	+	ENSG00000137414.5	protein_coding	AHCP	6p22.3	family with sequence similarity 8 member A1	Ubiquitous expression in liver (RPKM 21.6), endometrium (RPKM 17.3) and 25 other tissues
FAM90A1	chr12	8221260	8227618	-	ENSG00000171847.10	protein_coding	-	12p13.31	family with sequence similarity 90 member A1	Low expression observed in reference dataset
FAM90A10P	chr8	7768977	7771988	+	ENSG00000254597.1	unprocessed_pseudogene	FAM90A10	8p23.1	putative protein FAM90A10	FAM90A10
FAM90A20P	chr8	7295014	7298024	+	ENSG00000233295.3	unprocessed_pseudogene	FAM90A20	8p23.1	putative protein FAM90A20	FAM90A20
FAM90A25P	chr8	12415080	12418090	-	ENSG00000251402.3	unprocessed_pseudogene	-	8p23.1	family with sequence similarity 90 member A25, pseudogene	-
FAM90A27P	chr19	53281559	53284944	+	ENSG00000189348.6	transcribed_unprocessed_pseudogene	-	19q13.42	family with sequence similarity 90 member A27, pseudogene	-
FAM90A2P	chr8	12172761	12175771	-	ENSG00000205879.5	unprocessed_pseudogene	-	8p23.1	family with sequence similarity 90 member A2, pseudogene	-
FAM91A1	chr8	123768456	123815452	+	ENSG00000176853.15	protein_coding	-	8q24.13	family with sequence similarity 91 member A1	-
FAM98A	chr2	33583658	33599382	-	ENSG00000119812.18	protein_coding	-	2p22.3	family with sequence similarity 98 member A	-
FAM98C	chr19	38403135	38409088	+	ENSG00000130244.12	protein_coding	-	19q13.2	family with sequence similarity 98 member C	-
FAM99A	chr11	1665597	1667856	+	ENSG00000205866.3	lincRNA	-	11p15.5	family with sequence similarity 99 member A	-
FAM99B	chr11	1683269	1685629	-	ENSG00000205865.4	antisense	-	11p15.5	family with sequence similarity 99 member B	-
FAN1	chr15	30903852	30943108	+	ENSG00000198690.9	protein_coding	KIAA1018|KMIN|MTMR15|hFAN1	15q13.3	FANCD2 and FANCI associated nuclease 1	This gene plays a role in DNA interstrand cross-link repair and encodes a protein with 5 flap endonuclease and 5-3 exonuclease activity. Mutations in this gene cause karyomegalic interstitial nephritis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2016]
FANCA	chr16	89737549	89816657	-	ENSG00000187741.14	protein_coding	FA|FA-H|FA1|FAA|FACA|FAH|FANCH	16q24.3	FA complementation group A	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]
FANCC	chr9	95099054	95426796	-	ENSG00000158169.12	protein_coding	FA3|FAC|FACC	9q22.32	FA complementation group C	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group C. [provided by RefSeq, Jul 2008]
FANCD2	chr3	10026414	10101930	+	ENSG00000144554.10	protein_coding	FA-D2|FA4|FACD|FAD|FAD2|FANCD	3p25.3	FA complementation group D2	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
FANCD2OS	chr3	10081317	10108231	-	ENSG00000163705.12	protein_coding	C3orf24	3p25.3	FANCD2 opposite strand	This gene encodes a conserved protein of unknown function. [provided by RefSeq, Jan 2013]
FANCE	chr6	35452361	35467103	+	ENSG00000112039.3	protein_coding	FACE|FAE	6p21.31	FA complementation group E	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group E. [provided by RefSeq, Jul 2008]
FANCG	chr9	35073835	35080016	-	ENSG00000221829.9	protein_coding	FAG|XRCC9	9p13.3	FA complementation group G	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group G. [provided by RefSeq, Jul 2008]
FANCI	chr15	89243949	89317261	+	ENSG00000140525.17	protein_coding	KIAA1794	15q26.1	FA complementation group I	The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
FANCL	chr2	58159243	58241372	-	ENSG00000115392.11	protein_coding	FAAP43|PHF9|POG	2p16.1	FA complementation group L	This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2018]
FANK1	chr10	125896539	126009592	+	ENSG00000203780.10	protein_coding	HSD13	10q26.2	fibronectin type III and ankyrin repeat domains 1	Biased expression in testis (RPKM 5.5), thyroid (RPKM 1.2) and 10 other tissues
FANK1-AS1	chr10	125972188	125973126	-	ENSG00000233409.1	antisense	-	10q26.2	FANK1 antisense RNA 1	-
FAR1	chr11	13668670	13732346	+	ENSG00000197601.12	protein_coding	CSPSD|MLSTD2|PFCRD|SDR10E1	11p15.3	fatty acyl-CoA reductase 1	The protein encoded by this gene is required for the reduction of fatty acids to fatty alcohols, a process that is required for the synthesis of monoesters and ether lipids. NADPH is required as a cofactor in this reaction, and 16-18 carbon saturated and unsaturated fatty acids are the preferred substrate. This is a peroxisomal membrane protein, and studies suggest that the N-terminus contains a large catalytic domain located on the outside of the peroxisome, while the C-terminus is exposed to the matrix of the peroxisome. Studies indicate that the regulation of this protein is dependent on plasmalogen levels. Mutations in this gene have been associated with individuals affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity (PMID: 25439727). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jan 2015]
FAR2	chr12	29149103	29340980	+	ENSG00000064763.10	protein_coding	HEL-S-81|MLSTD1|SDR10E2	12p11.22	fatty acyl-CoA reductase 2	This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012]
FARP1	chr13	98142562	98455176	+	ENSG00000152767.16	protein_coding	CDEP|FARP1-IT1|PLEKHC2|PPP1R75	13q32.2	FERM, ARH/RhoGEF and pleckstrin domain protein 1	This gene encodes a protein containing a FERM (4.2, exrin, radixin, moesin) domain, a Dbl homology domain, and two pleckstrin homology domains. These domains are found in guanine nucleotide exchange factors and proteins that link the cytoskeleton to the cell membrane. The encoded protein functions in neurons to promote dendritic growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
FARP1-AS1	chr13	98435405	98435840	-	ENSG00000231194.1	antisense	-	13q32.2	FARP1 antisense RNA 1	-
FARP2	chr2	241356243	241494841	+	ENSG00000006607.13	protein_coding	FIR|FRG|PLEKHC3	2q37.3	FERM, ARH/RhoGEF and pleckstrin domain protein 2	Ubiquitous expression in testis (RPKM 7.0), skin (RPKM 5.6) and 25 other tissues
FARS2	chr6	5261044	5771580	+	ENSG00000145982.11	protein_coding	COXPD14|FARS1|HSPC320|PheRS|SPG77|mtPheRS	6p25.1	phenylalanyl-tRNA synthetase 2, mitochondrial	This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene can cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
FARSA	chr19	12922479	12934037	-	ENSG00000179115.10	protein_coding	CML33|FARSL|FARSLA|FRSA|PheHA|RILDBC2	19p13.13	phenylalanyl-tRNA synthetase subunit alpha	Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a product which is similar to the catalytic subunit of prokaryotic and Saccharomyces cerevisiae phenylalanyl-tRNA synthetases (PheRS). This gene product has been shown to be expressed in a tumor-selective and cell cycle stage- and differentiation-dependent manner, the first member of the tRNA synthetase gene family shown to exhibit this type of regulated expression [provided by RefSeq, Jul 2008]
FARSB	chr2	222570536	222656337	-	ENSG00000116120.9	protein_coding	FARSLB|FRSB|HSPC173|NEDBLLA|PheHB|PheRS|RILDBC|RILDBC1	2q36.1	phenylalanyl-tRNA synthetase subunit beta	This gene encodes a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
FAS	chr10	88990582	89015785	+	ENSG00000026103.21	protein_coding	ALPS1A|APO-1|APT1|CD95|FAS1|FASTM|TNFRSF6	10q23.31	Fas cell surface death receptor	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]
FAS-AS1	chr10	88992370	88992539	+	ENSG00000275693.1	misc_RNA	FAS-AS|FASAS|SAF	10q23.31	FAS antisense RNA 1	-
FASN	chr17	82078333	82098332	-	ENSG00000169710.8	protein_coding	FAS|OA-519|SDR27X1	17q25.3	fatty acid synthase	The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this protein has been found to be fused with estrogen receptor-alpha (ER-alpha), in which the N-terminus of FAS is fused in-frame with the C-terminus of ER-alpha. [provided by RefSeq, Jul 2008]
FASTK	chr7	151076593	151080866	-	ENSG00000164896.19	protein_coding	FAST	7q36.1	Fas activated serine/threonine kinase	The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase was shown to be activated rapidly during Fas-mediated apoptosis in Jurkat cells. In response to Fas receptor ligation, it phosphorylates TIA1, an apoptosis-promoting nuclear RNA-binding protein. The encoded protein is a strong inducer of lymphocyte apoptosis. Two transcript variants encoding different isoforms have been found for this gene. Other variants exist, but their full-length natures have not yet been determined. [provided by RefSeq, Jul 2008]
FASTKD1	chr2	169529749	169573875	-	ENSG00000138399.17	protein_coding	-	2q31.1	FAST kinase domains 1	-
FASTKD2	chr2	206765357	206792509	+	ENSG00000118246.13	protein_coding	COXPD44|KIAA0971	2q33.3	FAST kinase domains 2	This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq, Oct 2008]
FASTKD3	chr5	7859159	7869037	-	ENSG00000124279.11	protein_coding	-	5p15.31	FAST kinase domains 3	Ubiquitous expression in kidney (RPKM 3.9), lymph node (RPKM 3.8) and 25 other tissues
FASTKD5	chr20	3146519	3159897	-	ENSG00000215251.3	protein_coding	dJ1187M17.5	20p13	FAST kinase domains 5	Ubiquitous expression in bone marrow (RPKM 15.0), adrenal (RPKM 8.0) and 25 other tissues
FAT3	chr11	92352096	92896470	+	ENSG00000165323.15	protein_coding	CDHF15|CDHR10|hFat3	11q14.3	FAT atypical cadherin 3	Biased expression in brain (RPKM 1.5), prostate (RPKM 0.4) and 7 other tissues
FAU	chr11	65120628	65122473	-	ENSG00000149806.10	protein_coding	FAU1|Fub1|Fubi|MNSFbeta|RPS30|S30|asr1	11q13.1	FAU ubiquitin like and ribosomal protein S30 fusion	This gene is the cellular homolog of the fox sequence in the Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV). It encodes a fusion protein consisting of the ubiquitin-like protein fubi at the N terminus and ribosomal protein S30 at the C terminus. It has been proposed that the fusion protein is post-translationally processed to generate free fubi and free ribosomal protein S30. Fubi is a member of the ubiquitin family, and ribosomal protein S30 belongs to the S30E family of ribosomal proteins. Whereas the function of fubi is currently unknown, ribosomal protein S30 is a component of the 40S subunit of the cytoplasmic ribosome and displays antimicrobial activity. Pseudogenes derived from this gene are present in the genome. Similar to ribosomal protein S30, ribosomal proteins S27a and L40 are synthesized as fusion proteins with ubiquitin. [provided by RefSeq, Nov 2014]
FAXDC2	chr5	154818491	154859252	-	ENSG00000170271.10	protein_coding	C5orf4	5q33.2	fatty acid hydroxylase domain containing 2	Ubiquitous expression in liver (RPKM 20.9), ovary (RPKM 19.8) and 25 other tissues
FBF1	chr17	75909574	75941140	-	ENSG00000188878.19	protein_coding	Alb|FBF-1	17q25.1	Fas binding factor 1	Broad expression in testis (RPKM 14.5), skin (RPKM 4.2) and 22 other tissues
FBH1	chr10	 5889572	5937593	+	ENSG00000134452	protein-coding	FBXO18|Fbx18|hFBH1	10p15.1	F-box DNA helicase 1	This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
FBL	chr19	39834458	39846414	-	ENSG00000105202.8	protein_coding	FIB|FLRN|Nop1|RNU3IP1	19q13.2	fibrillarin	This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive domain that is rich in glycine and arginine residues, like fibrillarins in other species. Its central region resembles an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the autoimmune disease scleroderma recognize fibrillarin. [provided by RefSeq, Jul 2008]
FBLIM1	chr1	15756607	15786594	+	ENSG00000162458.12	protein_coding	CAL|FBLP-1|FBLP1	1p36.21	filamin binding LIM protein 1	This gene encodes a protein with an N-terminal filamin-binding domain, a central proline-rich domain, and, multiple C-terminal LIM domains. This protein localizes at cell junctions and may link cell adhesion structures to the actin cytoskeleton. This protein may be involved in the assembly and stabilization of actin-filaments and likely plays a role in modulating cell adhesion, cell morphology and cell motility. This protein also localizes to the nucleus and may affect cardiomyocyte differentiation after binding with the CSX/NKX2-5 transcription factor. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
FBLL1	chr5	168529116	168530634	+	ENSG00000188573.7	protein_coding	-	5q34	fibrillarin like 1	-
FBLN1	chr22	45502238	45601135	+	ENSG00000077942.18	protein_coding	FBLN|FIBL1	22q13.31	fibulin 1	Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3 end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008]
FBLN2	chr3	13549131	13638422	+	ENSG00000163520.13	protein_coding	-	3p25.1	fibulin 2	Broad expression in fat (RPKM 72.6), placenta (RPKM 47.4) and 15 other tissues
FBLN5	chr14	91869412	91947987	-	ENSG00000140092.14	protein_coding	ADCL2|ARCL1A|ARMD3|DANCE|EVEC|FIBL-5|HNARMD|UP50	14q32.12	fibulin 5	The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]
FBLN7	chr2	112138385	112188216	+	ENSG00000144152.12	protein_coding	TM14	2q13-q14.1	fibulin 7	Broad expression in thyroid (RPKM 2.4), lymph node (RPKM 1.6) and 23 other tissues
FBN1	chr15	48408306	48645849	-	ENSG00000166147.13	protein_coding	ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2	15q21.1	fibrillin 1	This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016]
FBN2	chr5	128257909	128659185	-	ENSG00000138829.11	protein_coding	CCA|DA9|EOMD	5q23.3	fibrillin 2	The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]
FBN3	chr19	8065402	8149846	-	ENSG00000142449.12	protein_coding	-	19p13.2	fibrillin 3	Low expression observed in reference dataset
FBP1	chr9	94603133	94640249	-	ENSG00000165140.9	protein_coding	FBP	9q22.32	fructose-bisphosphatase 1	Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. Fructose-1,6-diphosphatase deficiency is associated with hypoglycemia and metabolic acidosis. [provided by RefSeq, Jul 2008]
FBP2	chr9	94558720	94593793	-	ENSG00000130957.4	protein_coding	-	9q22.32	fructose-bisphosphatase 2	Biased expression in stomach (RPKM 15.5), esophagus (RPKM 4.0) and 3 other tissues
FBRS	chr16	30658431	30670814	+	ENSG00000156860.15	protein_coding	FBS|FBS1	16p11.2	fibrosin	Fibrosin is a lymphokine secreted by activated lymphocytes that induces fibroblast proliferation (Prakash and Robbins, 1998 [PubMed 9809749]).[supplied by OMIM, Mar 2008]
FBRSL1	chr12	132489551	132585188	+	ENSG00000112787.12	protein_coding	-	12q24.33	fibrosin like 1	-
FBXL12	chr19	9810267	9827816	-	ENSG00000127452.8	protein_coding	Fbl12	19p13.2	F-box and leucine rich repeat protein 12	Members of the F-box protein family, such as FBXL12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
FBXL13	chr7	102813230	103074843	-	ENSG00000161040.16	protein_coding	CFAP169|DRC6|Fbl13	7q22.1	F-box and leucine rich repeat protein 13	Members of the F-box protein family, such as FBXL13, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
FBXL15	chr10	102419189	102423136	+	ENSG00000107872.12	protein_coding	FBXO37|Fbl15|JET|PSD	10q24.32	F-box and leucine rich repeat protein 15	Broad expression in kidney (RPKM 4.8), colon (RPKM 3.6) and 24 other tissues
FBXL16	chr16	692498	705829	-	ENSG00000127585.11	protein_coding	C16orf22|Fbl16|c380A1.1	16p13.3	F-box and leucine rich repeat protein 16	Members of the F-box protein family, such as FBXL16, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
FBXL17	chr5	107859035	108382098	-	ENSG00000145743.15	protein_coding	FBXO13|Fbl17|Fbx13	5q21.3	F-box and leucine rich repeat protein 17	Members of the F-box protein family, such as FBXL17, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
FBXL18	chr7	5431335	5513798	-	ENSG00000155034.18	protein_coding	Fbl18	7p22.1	F-box and leucine rich repeat protein 18	The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]
FBXL19	chr16	30923055	30948783	+	ENSG00000099364.16	protein_coding	CXXC11|Fbl19|JHDM1C	16p11.2	F-box and leucine rich repeat protein 19	This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
FBXL2	chr3	33277025	33403662	+	ENSG00000153558.13	protein_coding	FBL2|FBL3	3p22.3	F-box and leucine rich repeat protein 2	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 12 tandem leucine-rich repeats. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
FBXL20	chr17	39252644	39402523	-	ENSG00000108306.11	protein_coding	Fbl2|Fbl20	17q12	F-box and leucine rich repeat protein 20	Members of the F-box protein family, such as FBXL20, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
FBXL22	chr15	63597353	63602428	+	ENSG00000197361.7	protein_coding	Fbl22	15q22.31	F-box and leucine rich repeat protein 22	This gene encodes a member of the F-box protein family. This F-box protein interacts with S-phase kinase-associated protein 1A and cullin in order to form SCF complexes which function as ubiquitin ligases.[provided by RefSeq, Sep 2010]
FBXL3	chr13	76992598	77027195	-	ENSG00000005812.10	protein_coding	FBL3|FBL3A|FBXL3A|IDDSFAS	13q22.3	F-box and leucine rich repeat protein 3	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008]
FBXL4	chr6	98868538	98948006	-	ENSG00000112234.8	protein_coding	FBL4|FBL5|MTDPS13	6q16.1-q16.2	F-box and leucine rich repeat protein 4	This gene encodes a member of the F-box protein family, which are characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one subunit of modular E3 ubiquitin ligase complexes, called SCF complexes, which function in phosphorylation-dependent ubiquitination. The F-box domain mediates protein-protein interactions and binds directly to S-phase kinase-associated protein 1. In addition to an F-box domain, the encoded protein contains at least 9 tandem leucine-rich repeats. The ubiquitin ligase complex containing the encoded protein may function in cell-cycle control by regulating levels of lysine-specific demethylase 4A. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
FBXL5	chr4	15604539	15681679	-	ENSG00000118564.14	protein_coding	FBL4|FBL5|FLR1	4p15.32	F-box and leucine rich repeat protein 5	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2010]
FBXL6	chr8	144355431	144359376	-	ENSG00000182325.10	protein_coding	FBL6|FBL6A|PP14630	8q24.3	F-box and leucine rich repeat protein 6	This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
FBXL8	chr16	67159931	67164570	+	ENSG00000135722.8	protein_coding	FBL8	16q22.1	F-box and leucine rich repeat protein 8	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. It shares 78% sequence identity with the mouse protein. [provided by RefSeq, Jul 2008]
FBXO10	chr9	37510892	37576349	-	ENSG00000147912.12	protein_coding	FBX10|PRMT11	9p13.2	F-box protein 10	Members of the F-box protein family, such as FBXO10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
FBXO11	chr2	47789316	47905793	-	ENSG00000138081.20	protein_coding	FBX11|IDDFBA|PRMT9|UBR6|UG063H01|VIT1	2p16.3	F-box protein 11	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It can function as an arginine methyltransferase that symmetrically dimethylates arginine residues, and it acts as an adaptor protein to mediate the neddylation of p53, which leads to the suppression of p53 function. This gene is known to be down-regulated in melanocytes from patients with vitiligo, a skin disorder that results in depigmentation. Polymorphisms in this gene are associated with chronic otitis media with effusion and recurrent otitis media (COME/ROM), a hearing loss disorder, and the knockout of the homologous mouse gene results in the deaf mouse mutant Jeff (Jf), a single gene model of otitis media. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]
FBXO17	chr19	38941401	38975910	-	ENSG00000269190.5	protein_coding	FBG4|FBX26|FBXO26|Fbx17	19q13.2	F-box protein 17	This gene encodes a member of the F-box protein family which is characterized by the F-box motif. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it contains an F-box domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
FBXO21	chr12	117141988	117190531	-	ENSG00000135108.14	protein_coding	FBX21	12q24.22	F-box protein 21	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]
FBXO22	chr15	75903859	75942510	+	ENSG00000167196.13	protein_coding	FBX22|FISTC1	15q24.2	F-box protein 22	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and, as a transcriptional target of the tumor protein p53, is thought to be involved in degradation of specific proteins in response to p53 induction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
FBXO24	chr7	100583982	100601117	+	ENSG00000106336.12	protein_coding	FBX24	7q22.1	F-box protein 24	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
FBXO27	chr19	38990714	39032785	-	ENSG00000161243.8	protein_coding	FBG5|Fbx27	19q13.2	F-box protein 27	Members of the F-box protein family, such as FBXO27, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
FBXO28	chr1	224114087	224162047	+	ENSG00000143756.11	protein_coding	CENP-30|Fbx28	1q42.11	F-box protein 28	Members of the F-box protein family, such as FBXO28, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
FBXO3	chr11	33740939	33774543	-	ENSG00000110429.13	protein_coding	FBA|FBX3	11p13	F-box protein 3	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates 2 transcript variants diverging at the 3 end. [provided by RefSeq, Jul 2008]
FBXO30	chr6	145793502	145814753	-	ENSG00000118496.4	protein_coding	Fbx30	6q24.3	F-box protein 30	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it is upregulated in nasopharyngeal carcinoma. [provided by RefSeq, Jul 2008]
FBXO31	chr16	87326987	87392142	-	ENSG00000103264.17	protein_coding	FBX14|FBXO14|Fbx31|MRT45|pp2386	16q24.2	F-box protein 31	This gene is a member of the F-box family. Members are classified into three classes according to the substrate interaction domain, FBW for WD40 repeats, FBL for leucing-rich repeats, and FBXO for other domains. This protein, classified into the last category because of the lack of a recognizable substrate binding domain, has been proposed to be a component of the SCF ubiquitination complex. It is thought to bind and recruit substrate for ubiquitination and degradation. This protein may have a role in regulating the cell cycle as well as dendrite growth and neuronal migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
FBXO32	chr8	123497889	123541206	-	ENSG00000156804.7	protein_coding	Fbx32|MAFbx	8q24.13	F-box protein 32	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and contains an F-box domain. This protein is highly expressed during muscle atrophy, whereas mice deficient in this gene were found to be resistant to atrophy. This protein is thus a potential drug target for the treatment of muscle atrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
FBXO33	chr14	39397669	39432500	-	ENSG00000165355.7	protein_coding	BMND12|Fbx33|c14_5247	14q21.1	F-box protein 33	This locus represents an member of the F-box gene family. The encoded protein contains an F-box motif and a domain that might form a structure similar to a leucine-rich repeat found in placental RNAse inhibitor. This locus may be associated with copy number variation of UGT2B17 (GeneID 7367), which has been associated with susceptibility to osteoporosis.[provided by RefSeq, Sep 2010]
FBXO34	chr14	55271303	55361918	+	ENSG00000178974.9	protein_coding	CGI-301|Fbx34	14q22.3	F-box protein 34	Members of the F-box protein family, such as FBXO34, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
FBXO36	chr2	229922302	230013109	+	ENSG00000153832.11	protein_coding	Fbx36	2q36.3	F-box protein 36	Members of the F-box protein family, such as FBXO36, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
FBXO38	chr5	148383935	148442836	+	ENSG00000145868.16	protein_coding	Fbx38|HMN2D|MOKA|SP329	5q32	F-box protein 38	This gene encodes a large protein that contains an F-box domain and may participate in protein ubiquitination. The encoded protein is a transcriptional co-activator of Krueppel-like factor 7 (Klf7). A heterozygous mutation in this gene was found in individuals with autosomal dominant distal hereditary motor neuronopathy type IID. There is a pseudogene for this gene on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
FBXO39	chr17	6776223	6797101	+	ENSG00000177294.6	protein_coding	CT144|FBOX39|Fbx39	17p13.1	F-box protein 39	Members of the F-box protein family, such as FBXO39, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
FBXO4	chr5	41925254	41941743	+	ENSG00000151876.12	protein_coding	FBX4	5p13.1	F-box protein 4	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
FBXO41	chr2	73254682	73284431	-	ENSG00000163013.11	protein_coding	FBX41	2p13.2	F-box protein 41	This gene encodes a member of the F-box protein family, which is characterized by an approximately 40 amino acid motif, the F-box. F-box proteins constitute one of the four subunits of the SCF ubiquitin protein ligase complex that plays a role in phosphorylation-dependent ubiquitination. F-box proteins are divided into three classes depending on the interaction substrate domain each contains in addition to the F-box motif: FBXW proteins contain WD-40 domains, FBXL proteins contain leucine-rich repeats, and FBXO proteins contain either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the FBXO class. [provided by RefSeq, Feb 2014]
FBXO42	chr1	16246839	16352454	-	ENSG00000037637.10	protein_coding	Fbx42|JFK	1p36.13	F-box protein 42	Members of the F-box protein family, such as FBXO42, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (SKP1A; MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Dec 2010]
FBXO44	chr1	11654375	11663327	+	ENSG00000132879.13	protein_coding	FBG3|FBX30|FBX6A|Fbx44|Fbxo6a	1p36.22	F-box protein 44	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It is also a member of the NFB42 (neural F Box 42 kDa) family, similar to F-box only protein 2 and F-box only protein 6. Several alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
FBXO45	chr3	196568611	196589059	+	ENSG00000174013.7	protein_coding	Fbx45	3q29	F-box protein 45	Members of the F-box protein family, such as FBXO45, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (summary by Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Jan 2011]
FBXO46	chr19	45710629	45730904	-	ENSG00000177051.5	protein_coding	20D7-FC4|FBXO34L|Fbx46	19q13.32	F-box protein 46	Members of the F-box protein family, such as FBXO46, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
FBXO47	chr17	38936432	38967402	-	ENSG00000204952.2	protein_coding	-	17q12|17q12	F-box protein 47	-
FBXO48	chr2	68459419	68467258	-	ENSG00000204923.3	protein_coding	-	2p13.3	F-box protein 48	-
FBXO5	chr6	152970519	152983579	-	ENSG00000112029.9	protein_coding	EMI1|FBX5|Fbxo31	6q25.2	F-box protein 5	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. This protein is similar to xenopus early mitotic inhibitor-1 (Emi1), which is a mitotic regulator that interacts with Cdc20 and inhibits the anaphase promoting complex. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Dec 2008]
FBXO6	chr1	11664124	11674354	+	ENSG00000116663.10	protein_coding	FBG2|FBS2|FBX6|Fbx6b	1p36.22	F-box protein 6	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class, and its C-terminal region is highly similar to that of rat NFB42 (neural F Box 42 kDa) which may be involved in the control of the cell cycle. [provided by RefSeq, Jul 2008]
FBXO7	chr22	32474676	32498829	+	ENSG00000100225.17	protein_coding	FBX|FBX07|FBX7|PARK15|PKPS	22q12.3	F-box protein 7	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined. [provided by RefSeq, Jul 2008]
FBXO8	chr4	174236658	174284264	-	ENSG00000164117.13	protein_coding	DC10|FBS|FBX8	4q34.1	F-box protein 8	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It contains a C-terminal amino acid sequence that bears a significant similarity with a portion of yeast Sec7p, a critical regulator of vesicular protein transport. This human protein may interact with ADP-ribosylation factor(s)(ARFs) and exhibit ARF-GEF (guanine nucleotide exchange factor) activity. [provided by RefSeq, Jul 2008]
FBXO9	chr6	53051991	53100873	+	ENSG00000112146.16	protein_coding	FBX9|NY-REN-57|VCIA1|dJ341E18.2	6p12.1	F-box protein 9	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. Alternative splicing of this gene generates at least 3 transcript variants diverging at the 5 terminus. [provided by RefSeq, Jul 2008]
FBXW10	chr17	18744024	18779349	+	ENSG00000171931.12	protein_coding	Fbw10|HREP|SM25H2|SM2SH2	17p11.2	F-box and WD repeat domain containing 10	Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
FBXW12	chr3	48372219	48401259	+	ENSG00000164049.14	protein_coding	FBW12|FBXO12|FBXO35	3p21.31	F-box and WD repeat domain containing 12	Members of the F-box protein family, such as FBXW12, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
FBXW2	chr9	120751978	120793412	-	ENSG00000119402.16	protein_coding	FBW2|Fwd2|Md6	9q33.2	F-box and WD repeat domain containing 2	F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. Mammalian F-box proteins are classified into three groups based on the presence of either WD-40 repeats, leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. This gene encodes the second identified member of the F-box gene family and contains multiple WD-40 repeats. [provided by RefSeq, Jul 2008]
FBXW4	chr10	101610664	101695295	-	ENSG00000107829.13	protein_coding	DAC|FBW4|FBWD4|SHFM3|SHSF3	10q24.32	F-box and WD repeat domain containing 4	This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought to be responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse gene results in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and syndactyly. This phenotype is remarkably similar to split hand-split foot malformation in humans, a clinically heterogeneous condition with a variety of modes of transmission. An autosomal recessive form has been mapped to the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene and others have been associated with the condition. A pseudogene of this locus has been mapped to one of the introns of the BCR gene on chromosome 22. [provided by RefSeq, Jul 2008]
FBXW5	chr9	136940435	136944696	-	ENSG00000159069.13	protein_coding	Fbw5	9q34.3	F-box and WD repeat domain containing 5	This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains WD-40 domains, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene, however, they were found to be nonsense-mediated mRNA decay (NMD) candidates, hence not represented. [provided by RefSeq, Jul 2008]
FBXW7	chr4	152321259	152536101	-	ENSG00000109670.13	protein_coding	AGO|CDC4|FBW6|FBW7|FBX30|FBXO30|FBXW6|SEL-10|SEL10|hAgo|hCdc4	4q31.3	F-box and WD repeat domain containing 7	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the genes potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
FBXW8	chr12	116910956	117031148	+	ENSG00000174989.12	protein_coding	FBW6|FBW8|FBX29|FBXO29|FBXW6	12q24.22	F-box and WD repeat domain containing 8	This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene contains a WD-40 domain, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
FBXW9	chr19	12688053	12696643	-	ENSG00000132004.12	protein_coding	Fbw9|MEC-15	19p13.13	F-box and WD repeat domain containing 9	Members of the F-box protein family, such as FBXW9, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
FCAR	chr19	54874248	54890472	+	ENSG00000186431.18	protein_coding	CD89|CTB-61M7.2|FcalphaRI	19q13.42	Fc fragment of IgA receptor	This gene is a member of the immunoglobulin gene superfamily and encodes a receptor for the Fc region of IgA. The receptor is a transmembrane glycoprotein present on the surface of myeloid lineage cells such as neutrophils, monocytes, macrophages, and eosinophils, where it mediates immunologic responses to pathogens. It interacts with IgA-opsonized targets and triggers several immunologic defense processes, including phagocytosis, antibody-dependent cell-mediated cytotoxicity, and stimulation of the release of inflammatory mediators. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
FCER1A	chr1	159289714	159308224	+	ENSG00000179639.10	protein_coding	FCE1A|FcERI	1q23.2	Fc fragment of IgE receptor Ia	The immunoglobulin epsilon receptor (IgE receptor) is the initiator of the allergic response. When two or more high-affinity IgE receptors are brought together by allergen-bound IgE molecules, mediators such as histamine that are responsible for allergy symptoms are released. This receptor is comprised of an alpha subunit, a beta subunit, and two gamma subunits. The protein encoded by this gene represents the alpha subunit. [provided by RefSeq, Aug 2011]
FCER1G	chr1	161215234	161220699	+	ENSG00000158869.10	protein_coding	FCRG	1q23.3	Fc fragment of IgE receptor Ig	The high affinity IgE receptor is a key molecule involved in allergic reactions. It is a tetramer composed of 1 alpha, 1 beta, and 2 gamma chains. The gamma chains are also subunits of other Fc receptors. [provided by RefSeq, Jul 2008]
FCER2	chr19	7688758	7702146	-	ENSG00000104921.14	protein_coding	BLAST-2|CD23|CD23A|CLEC4J|FCE2|IGEBF	19p13.2	Fc fragment of IgE receptor II	The protein encoded by this gene is a B-cell specific antigen, and a low-affinity receptor for IgE. It has essential roles in B cell growth and differentiation, and the regulation of IgE production. This protein also exists as a soluble secreted form, then functioning as a potent mitogenic growth factor. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]
FCF1	chr14	74713144	74738620	+	ENSG00000119616.11	protein_coding	Bka|C14orf111|CGI-35|UTP24	14q24.3	FCF1 rRNA-processing protein	Ubiquitous expression in thyroid (RPKM 6.5), colon (RPKM 5.1) and 25 other tissues
FCF1P2	chr3	48290793	48291375	-	ENSG00000228638.1	processed_pseudogene	-	3p21.31	FCF1 pseudogene 2	-
FCF1P5	chr6	111353702	111354183	+	ENSG00000220392.1	processed_pseudogene	-	6q21	FCF1 pseudogene 5	-
FCF1P6	chr1	50405430	50406024	-	ENSG00000225671.2	processed_pseudogene	-	1p32.3	FCF1 pseudogene 6	-
FCF1P7	chr1	243267257	243268119	-	ENSG00000224727.1	processed_pseudogene	-	1q43	FCF1 pseudogene 7	-
FCF1P8	chr4	55351812	55352408	-	ENSG00000251111.2	processed_pseudogene	-	4q12	FCF1 pseudogene 8	-
FCGBP	chr19	39863323	39934626	-	ENSG00000275395.4	protein_coding	FC(GAMMA)BP	19q13.2	Fc fragment of IgG binding protein	Annotation category: suggests misassembly
FCGR1A	chr1	149782671	149792518	+	ENSG00000150337.13	protein_coding	CD64|CD64A|FCRI|FcgammaRI|IGFR1	1q21.2	Fc fragment of IgG receptor Ia	This gene encodes a protein that plays an important role in the immune response. This protein is a high-affinity Fc-gamma receptor. The gene is one of three related gene family members located on chromosome 1. [provided by RefSeq, Jul 2008]
FCGR1B	chr1	121087345	121096310	+	ENSG00000198019.12	protein_coding	CD34|CD64b|FCG1|FCGR1|FcRI|FcgammaRIa|IGFR1|IGFRB	1p11.2	Fc fragment of IgG receptor Ib	Three distinct, but closely related classes of receptors that bind the Fc portion of IgG have been identified (Fcgamma RI, II and III). The FcgammaRI family consists of three closely related genes termed A, B, and C. This gene likely encodes a non-functional protein that is not detectable at the cell surface and binds ligand with low affinity. [provided by RefSeq, Nov 2019]
FCGR2A	chr1	161505430	161524013	+	ENSG00000143226.13	protein_coding	CD32|CD32A|CDw32|FCG2|FCGR2|FCGR2A1|FcGR|IGFR2	1q23.3	Fc fragment of IgG receptor IIa	This gene encodes one member of a family of immunoglobulin Fc receptor genes found on the surface of many immune response cells. The protein encoded by this gene is a cell surface receptor found on phagocytic cells such as macrophages and neutrophils, and is involved in the process of phagocytosis and clearing of immune complexes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]
FCGR2B	chr1	161663147	161678654	+	ENSG00000072694.20	protein_coding	CD32|CD32B|FCG2|FCGR2|FCGR2C|FcRII-c|IGFR2	1q23.3	Fc fragment of IgG receptor IIb	The protein encoded by this gene is a low affinity receptor for the Fc region of immunoglobulin gamma complexes. The encoded protein is involved in the phagocytosis of immune complexes and in the regulation of antibody production by B-cells. Variations in this gene may increase susceptibilty to systemic lupus erythematosus (SLE). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
FCGR2C	chr1	161581339	161605662	+	ENSG00000244682.7	polymorphic_pseudogene	CD32|CD32C|CDW32|FCG2|FCRIIC|IGFR2	1q23.3	Fc fragment of IgG receptor IIc (gene/pseudogene)	This gene encodes one of three members of a family of low-affinity immunoglobulin gamma Fc receptors found on the surface of many immune response cells. The encoded protein is a transmembrane glycoprotein and may be involved in phagocytosis and clearing of immune complexes. An allelic polymorphism in this gene results in both coding and non-coding variants. [provided by RefSeq, Apr 2012]
FCGR3A	chr1	161541759	161550737	-	ENSG00000203747.10	protein_coding	CD16|CD16A|FCG3|FCGR3|FCGRIII|FCR-10|FCRIII|FCRIIIA|IGFR3|IMD20	1q23.3	Fc fragment of IgG receptor IIIa	This gene encodes a receptor for the Fc portion of immunoglobulin G, and it is involved in the removal of antigen-antibody complexes from the circulation, as well as other responses, including antibody dependent cellular mediated cytotoxicity and antibody dependent enhancement of virus infections. This gene (FCGR3A) is highly similar to another nearby gene (FCGR3B) located on chromosome 1. The receptor encoded by this gene is expressed on natural killer (NK) cells as an integral membrane glycoprotein anchored through a transmembrane peptide, whereas FCGR3B is expressed on polymorphonuclear neutrophils (PMN) where the receptor is anchored through a phosphatidylinositol (PI) linkage. Mutations in this gene are associated with immunodeficiency 20, and have been linked to susceptibility to recurrent viral infections, susceptibility to systemic lupus erythematosus, and alloimmune neonatal neutropenia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020]
FCGR3B	chr1	161623196	161631963	-	ENSG00000162747.9	protein_coding	CD16|CD16A|CD16b|FCG3|FCGR3|FCGR3A|FCR-10|FCRIII|FCRIIIb	1q23.3	Fc fragment of IgG receptor IIIb	The protein encoded by this gene is a low affinity receptor for the Fc region of gamma immunoglobulins (IgG). The encoded protein acts as a monomer and can bind either monomeric or aggregated IgG. This gene may function to capture immune complexes in the peripheral circulation. Several transcript variants encoding different isoforms have been found for this gene. A highly-similar gene encoding a related protein is also found on chromosome 1. [provided by RefSeq, Aug 2012]
FCGRT	chr19	49506816	49526333	+	ENSG00000104870.12	protein_coding	FCRN|alpha-chain	19q13.33	Fc fragment of IgG receptor and transporter	This gene encodes a receptor that binds the Fc region of monomeric immunoglobulin G. The encoded protein transfers immunoglobulin G antibodies from mother to fetus across the placenta. This protein also binds immunoglobulin G to protect the antibody from degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
FCHO1	chr19	17747718	17788568	+	ENSG00000130475.14	protein_coding	IMD76	19p13.11	FCH and mu domain containing endocytic adaptor 1	Broad expression in lymph node (RPKM 7.7), spleen (RPKM 6.3) and 14 other tissues
FCHO2	chr5	72955981	73090522	+	ENSG00000157107.13	protein_coding	-	5q13.2	FCH and mu domain containing endocytic adaptor 2	-
FCHSD1	chr5	141639302	141651419	-	ENSG00000197948.10	protein_coding	NWK2	5q31.3	FCH and double SH3 domains 1	Ubiquitous expression in skin (RPKM 9.3), lymph node (RPKM 8.7) and 24 other tissues
FCHSD2	chr11	72836745	73142261	-	ENSG00000137478.14	protein_coding	NWK|NWK1|SH3MD3	11q13.4	FCH and double SH3 domains 2	Ubiquitous expression in spleen (RPKM 18.6), lymph node (RPKM 17.3) and 25 other tissues
FCMR	chr1	206904386	206923247	-	ENSG00000162894.11	protein_coding	FAIM3|TOSO	1q32.1	Fc fragment of IgM receptor	Fc receptors specifically bind to the Fc region of immunoglobulins (Igs) to mediate the unique functions of each Ig class. FAIM3 encodes an Fc receptor for IgM (see MIM 147020) (Kubagawa et al., 2009 [PubMed 19858324]; Shima et al., 2010 [PubMed 20042454]).[supplied by OMIM, Jul 2010]
FCN1	chr9	134905890	134917963	-	ENSG00000085265.10	protein_coding	FCNM	9q34.3	ficolin 1	 The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also found separately in other proteins such as complement protein C1q, C-type lectins known as collectins, and tenascins.  However, all these proteins recognize different targets, and are functionally distinct.  Ficolin 1 encoded by FCN1 is predominantly expressed in the peripheral blood leukocytes, and has been postulated to function as a plasma protein with elastin-binding activity. [provided by RefSeq, Jul 2008]
FCN2	chr9	134880812	134887520	+	ENSG00000160339.15	protein_coding	EBP-37|FCNL|P35|ficolin-2	9q34.3	ficolin 2	The product of this gene belongs to the ficolin family of proteins. This family is characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. This gene is predominantly expressed in the liver, and has been shown to have carbohydrate binding and opsonic activities. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
FCN3	chr1	27369112	27374824	-	ENSG00000142748.12	protein_coding	FCNH|HAKA1	1p36.11	ficolin 3	Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein encoded by this gene is a thermolabile beta-2-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially identified based on its reactivity with sera from patients with systemic lupus erythematosus, has been shown to have a calcium-independent lectin activity. The protein can activate the complement pathway in association with MASPs and sMAP, thereby aiding in host defense through the activation of the lectin pathway. Alternative splicing occurs at this locus and two variants, each encoding a distinct isoform, have been identified. [provided by RefSeq, Jul 2008]
FCRL1	chr1	157794403	157820105	-	ENSG00000163534.14	protein_coding	CD307a|FCRH1|IFGP1|IRTA5	1q23.1	Fc receptor like 1	This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains three extracellular C2-like immunoglobulin domains, a transmembrane domain and a cytoplasmic domain with two immunoreceptor-tyrosine activation motifs. This protein may play a role in the regulation of cancer cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
FCRL2	chr1	157745733	157777132	-	ENSG00000132704.15	protein_coding	CD307b|FCRH2|IFGP4|IRTA4|SPAP1|SPAP1A|SPAP1B|SPAP1C	1q23.1	Fc receptor like 2	This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein has four extracellular C2-type immunoglobulin domains, a transmembrane domain and a cytoplasmic domain that contains one immunoreceptor-tyrosine activation motif and two immunoreceptor-tyrosine inhibitory motifs. This protein may be a prognostic marker for chronic lymphocytic leukemia. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Apr 2009]
FCRL3	chr1	157674321	157700857	-	ENSG00000160856.20	protein_coding	CD307c|FCRH3|IFGP3|IRTA3|SPAP2	1q23.1	Fc receptor like 3	This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains immunoreceptor-tyrosine activation motifs and immunoreceptor-tyrosine inhibitory motifs in its cytoplasmic domain and may play a role in regulation of the immune system. Mutations in this gene have been associated with rheumatoid arthritis, autoimmune thyroid disease, and systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
FCRL6	chr1	159800511	159816251	+	ENSG00000181036.13	protein_coding	FcRH6	1q23.2	Fc receptor like 6	Broad expression in spleen (RPKM 6.7), lung (RPKM 2.6) and 14 other tissues
FCRLA	chr1	161706972	161714352	+	ENSG00000132185.16	protein_coding	FCRL|FCRL1|FCRLM1|FCRLX|FCRLb|FCRLc1|FCRLc2|FCRLd|FCRLe|FCRX|FREB	1q23.3	Fc receptor like A	This gene encodes a protein similar to receptors for the Fc fragment of gamma immunoglobulin (IgG). These receptors, referred to as FCGRs, mediate the destruction of IgG-coated antigens and of cells induced by antibodies. This encoded protein is selectively expressed in B cells, and may be involved in their development. This protein may also be involved in the development of lymphomas. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
FCRLB	chr1	161721563	161728143	+	ENSG00000162746.14	protein_coding	FCRL2|FCRLM2|FCRLY|FREB-2|FREB2|FcRY	1q23.3	Fc receptor like B	FCRL2 belongs to the Fc receptor family. Fc receptors are involved in phagocytosis, antibody-dependent cell cytotoxicity, immediate hypersensitivity, and transcytosis of immunoglobulins via their ability to bind immunoglobulin (Ig) constant regions (Chikaev et al., 2005 [PubMed 15676285]).[supplied by OMIM, Mar 2008]
FCSK	chr16	 70454595	70480274	+	ENSG00000157353	protein-coding	1110046B12Rik|CDGF2|FUK	16q22.1	fucose kinase	The protein encoded by this gene belongs to the GHMP (galacto-, homoserine, mevalonate and phosphomevalonate) kinase family and catalyzes the phosphorylation of L-fucose to form beta-L-fucose 1-phosphate. This enzyme catalyzes the first step in the utilization of free L-fucose in glycoprotein and glycolipid synthesis. L-fucose may be important in mediating a number of cell-cell interactions such as blood group antigen recognition, inflammation, and metastatis. While several transcript variants may exist for this gene, the full-length nature of only one has been described to date. [provided by RefSeq, Jul 2008]
FDFT1	chr8	11795573	11839309	+	ENSG00000079459.12	protein_coding	DGPT|ERG9|SQS|SQSD|SS	8p23.1	farnesyl-diphosphate farnesyltransferase 1	This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene. [provided by RefSeq, Jul 2008]
FDPS	chr1	155308748	155320666	+	ENSG00000160752.14	protein_coding	FPPS|FPS|POROK9	1q22	farnesyl diphosphate synthase	This gene encodes an enzyme that catalyzes the production of geranyl pyrophosphate and farnesyl pyrophosphate from isopentenyl pyrophosphate and dimethylallyl pyrophosphate. The resulting product, farnesyl pyrophosphate, is a key intermediate in cholesterol and sterol biosynthesis, a substrate for protein farnesylation and geranylgeranylation, and a ligand or agonist for certain hormone receptors and growth receptors. Drugs that inhibit this enzyme prevent the post-translational modifications of small GTPases and have been used to treat diseases related to bone resorption. Multiple pseudogenes have been found on chromosomes 1, 7, 14, 15, 21 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
FDX1	chr11	110429883	110464881	+	ENSG00000137714.2	protein_coding	ADX|FDX|LOH11CR1D	11q22.3	ferredoxin 1	This gene encodes a small iron-sulfur protein that transfers electrons from NADPH through ferredoxin reductase to mitochondrial cytochrome P450, involved in steroid, vitamin D, and bile acid metabolism. Pseudogenes of this functional gene are found on chromosomes 20 and 21. [provided by RefSeq, Aug 2011]
FDX1P1	chr20	34475924	34476474	-	ENSG00000181741.7	processed_pseudogene	ADXP1|FDXP1	20q11.22	ferredoxin 1 pseudogene 1	-
FDX2	chr19	10310045	10316015	-	ENSG00000267673.6	protein_coding	FDX1L|MEOAL	19p13.2	ferredoxin 2	This gene encodes a member of the ferredoxin family. The encoded protein contains a 2Fe-2S ferredoxin-type domain and is essential for heme A and Fe/S protein biosynthesis. Mutation in FDX1L gene is associated with mitochondrial muscle myopathy. [provided by RefSeq, Sep 2014]
FDXACB1	chr11	111874056	111881243	-	ENSG00000255561.6	protein_coding	hCG_2033039	11q23.1	ferredoxin-fold anticodon binding domain containing 1	This gene encodes a protein which contains a ferredoxin-fold anticodon-binding domain which is contained in a subset of phenylalanyl tRNA synthetases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
FECH	chr18	57548283	57586772	-	ENSG00000066926.10	protein_coding	EPP|EPP1|FCE	18q21.31	ferrochelatase	The protein encoded by this gene is localized to the mitochondrion, where it catalyzes the insertion of the ferrous form of iron into protoporphyrin IX in the heme synthesis pathway. Mutations in this gene are associated with erythropoietic protoporphyria. Two transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome 3.[provided by RefSeq, May 2010]
FEM1A	chr19	4791681	4801273	+	ENSG00000141965.4	protein_coding	EPRAP	19p13.3	fem-1 homolog A	-
FEM1B	chr15	68277803	68295865	+	ENSG00000169018.5	protein_coding	F1A-ALPHA|F1AA|FEM1-beta	15q23	fem-1 homolog B	This gene encodes an ankyrin repeat protein that belongs to the death receptor-associated family of proteins and plays a role in mediating apoptosis. The encoded protein is also thought to function in the replication stress-induced checkpoint signaling pathway via interaction with checkpoint kinase 1. [provided by RefSeq, Aug 2013]
FEM1C	chr5	115520908	115544894	-	ENSG00000145780.7	protein_coding	EUROIMAGE686608|EUROIMAGE783647|FEM1A	5q22.3	fem-1 homolog C	Ubiquitous expression in bone marrow (RPKM 24.9), testis (RPKM 9.4) and 25 other tissues
FEN1	chr11	61792637	61797244	+	ENSG00000168496.3	protein_coding	FEN-1|MF1|RAD2	11q12.2	flap structure-specific endonuclease 1	The protein encoded by this gene removes 5 overhanging flaps in DNA repair and processes the 5 ends of Okazaki fragments in lagging strand DNA synthesis. Direct physical interaction between this protein and AP endonuclease 1 during long-patch base excision repair provides coordinated loading of the proteins onto the substrate, thus passing the substrate from one enzyme to another. The protein is a member of the XPG/RAD2 endonuclease family and is one of ten proteins essential for cell-free DNA replication. DNA secondary structure can inhibit flap processing at certain trinucleotide repeats in a length-dependent manner by concealing the 5 end of the flap that is necessary for both binding and cleavage by the protein encoded by this gene. Therefore, secondary structure can deter the protective function of this protein, leading to site-specific trinucleotide expansions. [provided by RefSeq, Jul 2008]
FENDRR	chr16	86474529	86509099	-	ENSG00000268388.5	lincRNA	FOXF1-AS1|FOXF1AS1|TCONS_00024240|lincFOXF1|onco-lncRNA-21	16q24.1	FOXF1 adjacent non-coding developmental regulatory RNA	This gene produces a spliced long non-coding RNA transcribed bidirectionally with FOXF1 on the opposite strand. A similar gene in mouse is essential for normal development of the heart and body wall. The encoded transcript is thought to act by binding to polycomb repressive complex 2 (PRC2) and/or TrxG/MLL complexes to promote the methylation of the promoters of target genes, thus reducing their expression. It has been suggested that this transcript may play a role in the progression of gastric cancer. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
FER	chr5	108747822	109196841	+	ENSG00000151422.12	protein_coding	PPP1R74|TYK3|p94-Fer	5q21.3	FER tyrosine kinase	The protein encoded by this gene is a member of the FPS/FES family of non-transmembrane receptor tyrosine kinases. It regulates cell-cell adhesion and mediates signaling from the cell surface to the cytoskeleton via growth factor receptors. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Apr 2015]
FER1L4	chr20	35558737	35607562	-	ENSG00000088340.15	transcribed_unitary_pseudogene	C20orf124	20q11.22	fer-1 like family member 4 (pseudogene)	Biased expression in stomach (RPKM 27.2), urinary bladder (RPKM 7.3) and 4 other tissues
FER1L5	chr2	96642737	96704885	+	ENSG00000249715.10	protein_coding	-	2q11.2	fer-1 like family member 5	Biased expression in testis (RPKM 3.3) and prostate (RPKM 0.1)
FERMT1	chr20	6074845	6123544	-	ENSG00000101311.15	protein_coding	C20orf42|DTGCU2|KIND1|UNC112A|URP1	20p12.3	FERM domain containing kindlin 1	This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome. [provided by RefSeq, Dec 2009]
FERMT2	chr14	52857268	52952435	-	ENSG00000073712.14	protein_coding	KIND2|MIG2|PLEKHC1|UNC112|UNC112B|mig-2	14q22.1	FERM domain containing kindlin 2	Ubiquitous expression in fat (RPKM 84.8), endometrium (RPKM 56.1) and 22 other tissues
FERMT3	chr11	64206678	64223886	+	ENSG00000149781.12	protein_coding	KIND3|MIG-2|MIG2B|UNC112C|URP2|URP2SF	11q13.1	FERM domain containing kindlin 3	Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in the regulation of hemostasis and thrombosis. This protein may also help maintain the membrane skeleton of erythrocytes. Mutations in this gene cause the autosomal recessive leukocyte adhesion deficiency syndrome-III (LAD-III). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2010]
FES	chr15	90883695	90895776	+	ENSG00000182511.11	protein_coding	FPS	15q26.1	FES proto-oncogene, tyrosine kinase	This gene encodes the human cellular counterpart of a feline sarcoma retrovirus protein with transforming capabilities. The gene product has tyrosine-specific protein kinase activity and that activity is required for maintenance of cellular transformation. Its chromosomal location has linked it to a specific translocation event identified in patients with acute promyelocytic leukemia but it is also involved in normal hematopoiesis as well as growth factor and cytokine receptor signaling. Alternative splicing results in multiple variants encoding different isoforms.[provided by RefSeq, Jan 2009]
FETUB	chr3	186635969	186653141	+	ENSG00000090512.11	protein_coding	16G2|Gugu|IRL685	3q27.3	fetuin B	The protein encoded by this gene is a member of the fetuin family, part of the cystatin superfamily of cysteine protease inhibitors. Fetuins have been implicated in several diverse functions, including osteogenesis and bone resorption, regulation of the insulin and hepatocyte growth factor receptors, and response to systemic inflammation. This protein may be secreted by cells. [provided by RefSeq, Jul 2008]
FEV	chr2	218981087	218985657	-	ENSG00000163497.2	protein_coding	HSRNAFEV|PET-1	2q35	FEV transcription factor, ETS family member	This gene belongs to the ETS transcription factor family. ETS family members have a highly conserved 85-amino acid ETS domain that binds purine-rich DNA sequences. The alanine-rich C-terminus of this gene indicates that it may act as a transcription repressor. This gene is exclusively expressed in neurons of the central serotonin (5-HT) system, a system implicated in the pathogeny of such psychiatric diseases as depression, anxiety, and eating disorders. In some types of Ewing tumors, this gene is fused to the Ewing sarcoma (EWS) gene following chromosome translocations. [provided by RefSeq, Jul 2008]
FEZ1	chr11	125445745	125496317	-	ENSG00000149557.12	protein_coding	UNC-76	11q24.2	fasciculation and elongation protein zeta 1	This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Expression of this gene in C. elegans unc-76 mutants can restore to the mutants partial locomotion and axonal fasciculation, suggesting that it also functions in axonal outgrowth. The N-terminal half of the gene product is highly acidic. Alternatively spliced transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008]
FEZ2	chr2	36531805	36646087	-	ENSG00000171055.14	protein_coding	HUM3CL	2p22.2	fasciculation and elongation protein zeta 2	This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Other orthologs include the rat gene that encodes zygin II, which can bind to synaptotagmin. [provided by RefSeq, Jul 2008]
FEZF1-AS1	chr7	122303658	122310077	+	ENSG00000230316.6	antisense	-	7q31.32	FEZF1 antisense RNA 1	-
FEZF2	chr3	62369681	62374324	-	ENSG00000153266.12	protein_coding	FEZ|FEZL|FKSG36|TOF|ZFP312|ZNF312	3p14.2	FEZ family zinc finger 2	Restricted expression toward brain (RPKM 4.1)
FFAR1	chr19	35351552	35353862	+	ENSG00000126266.3	protein_coding	FFA1R|GPCR40|GPR40	19q13.12	free fatty acid receptor 1	This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for medium and long chain free fatty acids and may be involved in the metabolic regulation of insulin secretion. Polymorphisms in this gene may be associated with type 2 diabetes. [provided by RefSeq, Apr 2009]
FFAR2	chr19	35443907	35451767	+	ENSG00000126262.4	protein_coding	FFA2R|GPR43	19q13.12	free fatty acid receptor 2	This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for short chain free fatty acids and may be involved in the inflammatory response and in regulating lipid plasma levels. [provided by RefSeq, Apr 2009]
FFAR4	chr10	93566665	93604480	+	ENSG00000186188.10	protein_coding	BMIQ10|GPR120|GPR129|GT01|O3FAR1|PGR4	10q23.33	free fatty acid receptor 4	This gene encodes a G protein-coupled receptor (GPR) which belongs to the rhodopsin family of GPRs. The encoded protein functions as a receptor for free fatty acids, including omega-3, and participates in suppressing anti-inflammatory responses and insulin sensitizing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
FGA	chr4	154583126	154590766	-	ENSG00000171560.14	protein_coding	Fib2	4q31.3	fibrinogen alpha chain	This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016]
FGD2	chr6	37005646	37029070	+	ENSG00000146192.14	protein_coding	ZFYVE4	6p21.2	FYVE, RhoGEF and PH domain containing 2	The protein encoded by this gene belongs to a family of guanine nucleotide exchange factors (GEFs) which control cytoskeleton-dependent membrane rearrangements by activating the cell division cycle 42 (CDC42) protein. This gene is expressed in B lymphocytes, macrophages, and dendritic cells. The encoded protein may play a role in leukocyte signaling and vesicle trafficking in antigen-presenting cells in the immune system. [provided by RefSeq, Oct 2016]
FGD3	chr9	92947451	93036236	+	ENSG00000127084.17	protein_coding	ZFYVE5	9q22.31	FYVE, RhoGEF and PH domain containing 3	Broad expression in spleen (RPKM 16.0), lymph node (RPKM 14.2) and 17 other tissues
FGD4	chr12	32399529	32646050	+	ENSG00000139132.14	protein_coding	CMT4H|FRABP|ZFYVE6	12p11.21	FYVE, RhoGEF and PH domain containing 4	This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can form microspikes. This protein can activate MAPK8 independently of the actin filament-binding domain, and it is also involved in the activation of CDC42 via the exchange of bound GDP for free GTP. The activation of CDC42 also enables this protein to play a role in mediating the cellular invasion of Cryptosporidium parvum, an intracellular parasite that infects the gastrointestinal tract. Mutations in this gene can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
FGD5	chr3	14810853	14934565	+	ENSG00000154783.11	protein_coding	ZFYVE23	3p25.1	FYVE, RhoGEF and PH domain containing 5	Broad expression in spleen (RPKM 15.9), lung (RPKM 13.8) and 22 other tissues
FGD5-AS1	chr3	14920347	14948424	-	ENSG00000225733.5	antisense	-	3p25.1	FGD5 antisense RNA 1	-
FGD6	chr12	95076749	95217482	-	ENSG00000180263.13	protein_coding	ZFYVE24	12q22	FYVE, RhoGEF and PH domain containing 6	Ubiquitous expression in skin (RPKM 3.9), gall bladder (RPKM 3.5) and 25 other tissues
FGF1	chr5	142592178	142698070	-	ENSG00000113578.17	protein_coding	AFGF|ECGF|ECGF-beta|ECGFA|ECGFB|FGF-1|FGF-alpha|FGFA|GLIO703|HBGF-1|HBGF1	5q31.3	fibroblast growth factor 1	The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein functions as a modifier of endothelial cell migration and proliferation, as well as an angiogenic factor. It acts as a mitogen for a variety of mesoderm- and neuroectoderm-derived cells in vitro, thus is thought to be involved in organogenesis. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009]
FGF10	chr5	44303544	44389706	-	ENSG00000070193.4	protein_coding	-	5p12	fibroblast growth factor 10	Broad expression in ovary (RPKM 9.2), fat (RPKM 4.7) and 15 other tissues
FGF10-AS1	chr5	44388732	44413989	+	ENSG00000248464.1	antisense	-	5p12	FGF10 antisense RNA 1	-
FGF11	chr17	7438273	7444937	+	ENSG00000161958.10	protein_coding	FGF-11|FHF-3|FHF3	17p13.1	fibroblast growth factor 11	The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The function of this gene has not yet been determined. The expression pattern of the mouse homolog implies a role in nervous system development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
FGF17	chr8	22042398	22048809	+	ENSG00000158815.10	protein_coding	FGF-13|FGF-17|HH20	8p21.3	fibroblast growth factor 17	This gene encodes a member of the fibroblast growth factor (FGF) family. Member of the FGF family possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is expressed during embryogenesis and in the adult cerebellum and cortex and may be essential for vascular growth and normal brain development. Mutations in this gene are the cause of hypogonadotropic hypogonadism 20 with or without anosmia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
FGF18	chr5	171419656	171457623	+	ENSG00000156427.7	protein_coding	FGF-18|ZFGF5	5q35.1	fibroblast growth factor 18	The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. It has been shown in vitro that this protein is able to induce neurite outgrowth in PC12 cells. Studies of the similar proteins in mouse and chick suggested that this protein is a pleiotropic growth factor that stimulates proliferation in a number of tissues, most notably the liver and small intestine. Knockout studies of the similar gene in mice implied the role of this protein in regulating proliferation and differentiation of midline cerebellar structures. [provided by RefSeq, Jul 2008]
FGF2	chr4	122826708	122898236	+	ENSG00000138685.13	protein_coding	BFGF|FGF-2|FGFB|HBGF-2	4q28.1	fibroblast growth factor 2	The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members bind heparin and possess broad mitogenic and angiogenic activities. This protein has been implicated in diverse biological processes, such as limb and nervous system development, wound healing, and tumor growth. The mRNA for this gene contains multiple polyadenylation sites, and is alternatively translated from non-AUG (CUG) and AUG initiation codons, resulting in five different isoforms with distinct properties. The CUG-initiated isoforms are localized in the nucleus and are responsible for the intracrine effect, whereas, the AUG-initiated form is mostly cytosolic and is responsible for the paracrine and autocrine effects of this FGF. [provided by RefSeq, Jul 2008]
FGF21	chr19	48755559	48758330	+	ENSG00000105550.8	protein_coding	-	19q13.33	fibroblast growth factor 21	Restricted expression toward liver (RPKM 3.0)
FGF23	chr12	4368227	4379728	-	ENSG00000118972.1	protein_coding	ADHR|FGFN|HFTC2|HPDR2|HYPF|PHPTC	12p13.32	fibroblast growth factor 23	This gene encodes a member of the fibroblast growth factor family of proteins, which possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. The product of this gene regulates phosphate homeostasis and transport in the kidney. The full-length, functional protein may be deactivated via cleavage into N-terminal and C-terminal chains. Mutation of this cleavage site causes autosomal dominant hypophosphatemic rickets (ADHR). Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC). [provided by RefSeq, Feb 2013]
FGF5	chr4	80266599	80336680	+	ENSG00000138675.16	protein_coding	HBGF-5|Smag-82|TCMGLY	4q21.21	fibroblast growth factor 5	The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified as an oncogene, which confers transforming potential when transfected into mammalian cells. Targeted disruption of the homolog of this gene in mouse resulted in the phenotype of abnormally long hair, which suggested a function as an inhibitor of hair elongation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
FGF7	chr15	49423096	49488775	+	ENSG00000140285.9	protein_coding	HBGF-7|KGF	15q21.2	fibroblast growth factor 7	The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is a potent epithelial cell-specific growth factor, whose mitogenic activity is predominantly exhibited in keratinocytes but not in fibroblasts and endothelial cells. Studies of mouse and rat homologs of this gene implicated roles in morphogenesis of epithelium, reepithelialization of wounds, hair development and early lung organogenesis. [provided by RefSeq, Jul 2008]
FGF8	chr10	101770130	101780369	-	ENSG00000107831.12	protein_coding	AIGF|FGF-8|HBGF-8|HH6|KAL6	10q24.32	fibroblast growth factor 8	The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is known to be a factor that supports androgen and anchorage independent growth of mammary tumor cells. Overexpression of this gene has been shown to increase tumor growth and angiogensis. The adult expression of this gene is restricted to testes and ovaries. Temporal and spatial pattern of this gene expression suggests its function as an embryonic epithelial factor. Studies of the mouse and chick homologs revealed roles in midbrain and limb development, organogenesis, embryo gastrulation and left-right axis determination. The alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]
FGF9	chr13	21671383	21704498	+	ENSG00000102678.6	protein_coding	FGF-9|GAF|HBFG-9|HBGF-9|SYNS3	13q12.11	fibroblast growth factor 9	The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured glial cells. In nervous system, this protein is produced mainly by neurons and may be important for glial cell development. Expression of the mouse homolog of this gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype, which suggested a role in testicular embryogenesis. [provided by RefSeq, Jul 2008]
FGFBP2	chr4	15960243	15969309	-	ENSG00000137441.7	protein_coding	HBP17RP|KSP37	4p15.32	fibroblast growth factor binding protein 2	This gene encodes a member of the fibroblast growth factor binding protein family. The encoded protein is a serum protein that is selectively secreted by cytotoxic lymphocytes and may be involved in cytotoxic lymphocyte-mediated immunity. An increase in the amount of gene product may be associated with atopic asthma and mild extrinsic asthma.[provided by RefSeq Staff, Oct 2008]
FGFBP3	chr10	91906589	91909483	-	ENSG00000174721.9	protein_coding	C10orf13|FGF-BP3	10q23.32	fibroblast growth factor binding protein 3	Biased expression in brain (RPKM 6.6), prostate (RPKM 0.9) and 13 other tissues
FGFR1	chr8	38411138	38468834	-	ENSG00000077782.19	protein_coding	BFGFR|CD331|CEK|ECCL|FGFBR|FGFR-1|FLG|FLT-2|FLT2|HBGFR|HH2|HRTFDS|KAL2|N-SAM|OGD|bFGF-R-1	8p11.23	fibroblast growth factor receptor 1	The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
FGFR1OP2	chr12	26938383	26966650	+	ENSG00000111790.13	protein_coding	HSPC123-like|WIT3.0	12p11.23	FGFR1 oncogene partner 2	Ubiquitous expression in ovary (RPKM 23.0), adrenal (RPKM 22.0) and 25 other tissues
FGFR2	chr10	121478334	121598458	-	ENSG00000066468.22	protein_coding	BBDS|BEK|BFR-1|CD332|CEK3|CFD1|ECT1|JWS|K-SAM|KGFR|TK14|TK25	10q26.13	fibroblast growth factor receptor 2	The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
FGFR3	chr4	1793307	1808872	+	ENSG00000068078.17	protein_coding	ACH|CD333|CEK2|HSFGFR3EX|JTK4	4p16.3	fibroblast growth factor receptor 3	This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]
FGFR4	chr5	177086886	177098144	+	ENSG00000160867.14	protein_coding	CD334|JTK2|TKF	5q35.2	fibroblast growth factor receptor 4	The protein encoded by this gene is a tyrosine kinase and cell surface receptor for fibroblast growth factors. The encoded protein is involved in the regulation of several pathways, including cell proliferation, cell differentiation, cell migration, lipid metabolism, bile acid biosynthesis, vitamin D metabolism, glucose uptake, and phosphate homeostasis. This protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment, and a cytoplasmic tyrosine kinase domain. The extracellular portion interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. [provided by RefSeq, Aug 2017]
FGFRL1	chr4	1009936	1026897	+	ENSG00000127418.14	protein_coding	FGFR-5|FGFR5|FHFR	4p16.3	fibroblast growth factor receptor like 1	The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. A marked difference between this gene product and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane receptor that could interact with other family members and potentially inhibit signaling. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]
FGG	chr4	154604134	154612967	-	ENSG00000171557.16	protein_coding	-	4q32.1	fibrinogen gamma chain	Restricted expression toward liver (RPKM 3614.5)
FGGY	chr1	59296638	59810647	+	ENSG00000172456.17	protein_coding	-	1p32.1	FGGY carbohydrate kinase domain containing	Ubiquitous expression in liver (RPKM 2.1), kidney (RPKM 1.3) and 25 other tissues
FGL1	chr8	17864380	17910365	-	ENSG00000104760.16	protein_coding	HFREP1|HP-041|HPS|LFIRE-1|LFIRE1	8p22	fibrinogen like 1	Fibrinogen-like 1 is a member of the fibrinogen family. This protein is homologous to the carboxy terminus of the fibrinogen beta- and gamma- subunits which contains the four conserved cysteines of fibrinogens and fibrinogen related proteins. However, this protein lacks the platelet-binding site, cross-linking region and a thrombin-sensitive site which are necessary for fibrin clot formation. This protein may play a role in the development of hepatocellular carcinomas. Four alternatively spliced transcript variants encoding the same protein exist for this gene. [provided by RefSeq, Jul 2008]
FGL2	chr7	77193371	77199848	-	ENSG00000127951.6	protein_coding	T49|pT49	7q11.23	fibrinogen like 2	The protein encoded by this gene is a secreted protein that is similar to the beta- and gamma-chains of fibrinogen. The carboxyl-terminus of the encoded protein consists of the fibrinogen-related domains (FRED). The encoded protein forms a tetrameric complex which is stabilized by interchain disulfide bonds. This protein may play a role in physiologic functions at mucosal sites. [provided by RefSeq, Jul 2008]
FGR	chr1	27612064	27635277	-	ENSG00000000938.12	protein_coding	SRC2|c-fgr|c-src2|p55-Fgr|p55c-fgr|p58-Fgr|p58c-fgr	1p35.3	FGR proto-oncogene, Src family tyrosine kinase	This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to plasma membrane ruffles, and functions as a negative regulator of cell migration and adhesion triggered by the beta-2 integrin signal transduction pathway. Infection with Epstein-Barr virus results in the overexpression of this gene. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
FHAD1	chr1	15247272	15400283	+	ENSG00000142621.19	protein_coding	-	1p36.21	forkhead associated phosphopeptide binding domain 1	-
FHDC1	chr4	152936352	152979696	+	ENSG00000137460.8	protein_coding	INF1	4q31.3	FH2 domain containing 1	Predicted to enable actin binding activity and microtubule binding activity. Involved in Golgi ribbon formation; cilium assembly; and stress fiber assembly. Located in cilium and microtubule. [provided by Alliance of Genome Resources, Apr 2022]
FHIP1A	chr4	 151409176	151670503	+	ENSG00000164142	protein-coding	FAM160A1|FHIP-L	4q31.3	FHF complex subunit HOOK interacting protein 1A	-
FHIP1A-DT	chr4	 151401077	151409279	-	-	ncRNA	FAM160A1-DT	4q31.3	FHIP1A divergent transcript	-
FHIP2A	chr10	 114821780	114899832	+	ENSG00000151553	protein-coding	FAM160B1|KIAA1600|bA106M7.3	10q25.3	FHF complex subunit HOOK interacting protein 2A	-
FHIP2B	chr8	 22089150	22104911	+	ENSG00000158863	protein-coding	FAM160B2|RAI16	8p21.3	FHF complex subunit HOOK interacting protein 2B	-
FHIT	chr3	59749310	61251459	-	ENSG00000189283.9	protein_coding	AP3Aase|FRA3B	3p14.2	fragile histidine triad diadenosine triphosphatase	The protein encoded by this gene is a P1-P3-bis(5-adenosyl) triphosphate hydrolase involved in purine metabolism. This gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. The encoded protein is also a tumor suppressor, as loss of its activity results in replication stress and DNA damage. [provided by RefSeq, Aug 2017]
FHL2	chr2	105357712	105438513	-	ENSG00000115641.18	protein_coding	AAG11|DRAL|FHL-2|SLIM-3|SLIM3	2q12.2	four and a half LIM domains 2	This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. This protein is thought to have a role in the assembly of extracellular membranes. Also, this gene is down-regulated during transformation of normal myoblasts to rhabdomyosarcoma cells and the encoded protein may function as a link between presenilin-2 and an intracellular signaling pathway. Multiple alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2016]
FHL3	chr1	37996770	38005606	-	ENSG00000183386.9	protein_coding	SLIM2	1p34.3	four and a half LIM domains 3	The protein encoded by this gene is a member of a family of proteins containing a four-and-a-half LIM domain, which is a highly conserved double zinc finger motif. The encoded protein has been shown to interact with the cancer developmental regulators SMAD2, SMAD3, and SMAD4, the skeletal muscle myogenesis protein MyoD, and the high-affinity IgE beta chain regulator MZF-1. This protein may be involved in tumor suppression, repression of MyoD expression, and repression of IgE receptor expression. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
FHL5	chr6	96562548	96616636	+	ENSG00000112214.10	protein_coding	1700027G07Rik|ACT|FHL-5|dJ393D12.2	6q16.1	four and a half LIM domains 5	The protein encoded by this gene is coordinately expressed with activator of cAMP-responsive element modulator (CREM). It is associated with CREM and confers a powerful transcriptional activation function. CREM acts as a transcription factor essential for the differentiation of spermatids into mature spermatozoa. There are multiple polyadenylation sites found in this gene. Polymorphisms in this gene may be associated with susceptibility for migraine headaches. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Apr 2016]
FHOD1	chr16	67229387	67247658	-	ENSG00000135723.13	protein_coding	FHOS	16q22.1	formin homology 2 domain containing 1	This gene encodes a protein which is a member of the formin/diaphanous family of proteins. The gene is ubiquitously expressed but is found in abundance in the spleen. The encoded protein has sequence homology to diaphanous and formin proteins within the Formin Homology (FH)1 and FH2 domains. It also contains a coiled-coil domain, a collagen-like domain, two nuclear localization signals, and several potential PKC and PKA phosphorylation sites. It is a predominantly cytoplasmic protein and is expressed in a variety of human cell lines. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
FHOD3	chr18	36297714	36780055	+	ENSG00000134775.15	protein_coding	CMH28|FHOS2|Formactin2	18q12.2	formin homology 2 domain containing 3	The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015]
FHP1	chr13	42255873	42256575	+	ENSG00000234213.1	processed_pseudogene	-	13q14.11	fumarate hydratase pseudogene 1	-
FIBIN	chr11	26994184	26996121	+	ENSG00000176971.3	protein_coding	-	11p14.2	fin bud initiation factor homolog	-
FIBP	chr11	65883741	65888539	-	ENSG00000172500.12	protein_coding	FGFIBP|FIBP-1|TROFAS	11q13.1	FGF1 intracellular binding protein	Acidic fibroblast growth factor is mitogenic for a variety of different cell types and acts by stimulating mitogenesis or inducing morphological changes and differentiation. The FIBP protein is an intracellular protein that binds selectively to acidic fibroblast growth factor (aFGF). It is postulated that FIBP may be involved in the mitogenic action of aFGF. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
FIG4	chr6	109691312	109825428	+	ENSG00000112367.10	protein_coding	ALS11|BTOP|CMT4J|KIAA0274|SAC3|YVS|dJ249I4.1	6q21	FIG4 phosphoinositide 5-phosphatase	The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]
FIGLA	chr2	70777310	70790643	-	ENSG00000183733.6	protein_coding	BHLHC8|FIGALPHA|POF6	2p13.3	folliculogenesis specific bHLH transcription factor	This gene encodes a protein that functions in postnatal oocyte-specific gene expression. The protein is a basic helix-loop-helix transcription factor that regulates multiple oocyte-specific genes, including genes involved in folliculogenesis and those that encode the zona pellucida. Mutations in this gene cause premature ovarian failure type 6. [provided by RefSeq, Sep 2009]
FIGN	chr2	163593396	163736012	-	ENSG00000182263.13	protein_coding	-	2q24.3	fidgetin, microtubule severing factor	-
FIGNL1	chr7	50444128	50542535	-	ENSG00000132436.11	protein_coding	-	7p12.2	fidgetin like 1	Ubiquitous expression in lymph node (RPKM 1.9), appendix (RPKM 1.8) and 24 other tissues
FIGNL2	chr12	51817840	51848766	-	ENSG00000261308.2	protein_coding	-	12q13.13	fidgetin like 2	-
FILIP1	chr6	75291859	75493738	-	ENSG00000118407.14	protein_coding	FILIP	6q14.1	filamin A interacting protein 1	This gene encodes a filamin A binding protein. The encoded protein promotes the degradation of filamin A and may regulate cortical neuron migration and dendritic spine morphology. Mice lacking a functional copy of this gene exhibit reduced dendritic spine length and altered excitatory signaling. [provided by RefSeq, Oct 2016]
FILIP1L	chr3	99830141	100114513	-	ENSG00000168386.18	protein_coding	DOC-1|DOC1|GIP130|GIP90	3q12.1	filamin A interacting protein 1 like	Ubiquitous expression in gall bladder (RPKM 44.5), urinary bladder (RPKM 29.8) and 23 other tissues
FIP1L1	chr4	53377643	53460861	+	ENSG00000145216.15	protein_coding	FIP1|Rhe|hFip1	4q12	factor interacting with PAPOLA and CPSF1	This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3 end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
FIS1	chr7	101239458	101252316	-	ENSG00000214253.8	protein_coding	CGI-135|TTC11	7q22.1	fission, mitochondrial 1	The balance between fission and fusion regulates the morphology of mitochondria. TTC11 is a component of a mitochondrial complex that promotes mitochondrial fission (James et al., 2003 [PubMed 12783892]).[supplied by OMIM, Mar 2008]
FITM1	chr14	24131275	24132849	+	ENSG00000139914.6	protein_coding	FIT1	14q12	fat storage inducing transmembrane protein 1	FIT1 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM, May 2008]
FITM2	chr20	44302838	44311169	-	ENSG00000197296.5	protein_coding	C20orf142|Fit2|SIDDIS|dJ881L22.2	20q13.12	fat storage inducing transmembrane protein 2	FIT2 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM, May 2008]
FIZ1	chr19	55591371	55601970	-	ENSG00000179943.7	protein_coding	ZNF798	19q13.42	FLT3 interacting zinc finger 1	This gene encodes zinc finger protein, which interacts with a receptor tyrosine kinase involved in the regulation of hematopoietic and lymphoid cells. This gene product also interacts with a transcription factor that regulates the expression of rod-specific genes in retina. [provided by RefSeq, Jul 2008]
FKBP10	chr17	41812680	41823217	+	ENSG00000141756.18	protein_coding	BRKS1|FKBP65|OI11|OI6|PPIASE|hFKBP65	17q21.2	FKBP prolyl isomerase 10	The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]
FKBP11	chr12	48921518	48926474	-	ENSG00000134285.10	protein_coding	FKBP19	12q13.12	FKBP prolyl isomerase 11	FKBP11 belongs to the FKBP family of peptidyl-prolyl cis/trans isomerases, which catalyze the folding of proline-containing polypeptides. The peptidyl-prolyl isomerase activity of FKBP proteins is inhibited by the immunosuppressant compounds FK506 and rapamycin (Rulten et al., 2006 [PubMed 16596453]).[supplied by OMIM, Mar 2008]
FKBP14	chr7	30010587	30026684	-	ENSG00000106080.10	protein_coding	EDSKMH|EDSKSCL2|FKBP22|IPBP12	7p14.3	FKBP prolyl isomerase 14	The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]
FKBP15	chr9	113161006	113221361	-	ENSG00000119321.8	protein_coding	FKBP133|KIAA0674|PPP1R76	9q32	FKBP prolyl isomerase family member 15	Ubiquitous expression in spleen (RPKM 13.2), appendix (RPKM 13.2) and 25 other tissues
FKBP1A	chr20	1368978	1393172	-	ENSG00000088832.16	protein_coding	FKBP-12|FKBP-1A|FKBP1|FKBP12|PKC12|PKCI2|PPIASE	20p13	FKBP prolyl isomerase 1A	The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta receptor. It also interacts with multiple intracellular calcium release channels, and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. Multiple alternatively spliced variants, encoding the same protein, have been identified. The human genome contains five pseudogenes related to this gene, at least one of which is transcribed. [provided by RefSeq, Sep 2008]
FKBP1B	chr2	24049701	24063681	+	ENSG00000119782.13	protein_coding	FKBP12.6|FKBP1L|OTK4|PKBP1L|PPIase	2p23.3	FKBP prolyl isomerase 1B	The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is highly similar to the FK506-binding protein 1A. Its physiological role is thought to be in excitation-contraction coupling in cardiac muscle. There are two alternatively spliced transcript variants of this gene encoding different isoforms. [provided by RefSeq, Jul 2008]
FKBP1C	chr6	63211446	63213024	+	ENSG00000198225.5	protein_coding	-	6q12	FKBP prolyl isomerase family member 1C	-
FKBP2	chr11	64241003	64244132	+	ENSG00000173486.12	protein_coding	FKBP-13|FKBP13|PPIase	11q13.1	FKBP prolyl isomerase 2	The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is thought to function as an ER chaperone and may also act as a component of membrane cytoskeletal scaffolds. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008]
FKBP4	chr12	2794953	2805423	+	ENSG00000004478.7	protein_coding	FKBP51|FKBP52|FKBP59|HBI|Hsp56|PPIase|p52	12p13.33	FKBP prolyl isomerase 4	The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It has high structural and functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon regulatory factor-4 and plays an important role in immunoregulatory gene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (hsp90 and hsp70) and thus may play a role in the intracellular trafficking of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant increase in AAV-mediated transgene expression in human cell lines. Thus this encoded protein is thought to have important implications for the optimal use of AAV vectors in human gene therapy. The human genome contains several non-transcribed pseudogenes similar to this gene. [provided by RefSeq, Sep 2008]
FKBP4P1	chr4	118193405	118194751	-	ENSG00000251463.2	processed_pseudogene	-	4q26	FKBP prolyl isomerase 4 pseudogene 1	-
FKBP5	chr6	35573585	35728583	-	ENSG00000096060.14	protein_coding	AIG6|FKBP51|FKBP54|P54|PPIase|Ptg-10	6p21.31	FKBP prolyl isomerase 5	The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It is thought to mediate calcineurin inhibition. It also interacts functionally with mature hetero-oligomeric progesterone receptor complexes along with the 90 kDa heat shock protein and P23 protein. This gene has been found to have multiple polyadenylation sites. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
FKBP6	chr7	73328164	73358637	+	ENSG00000077800.11	protein_coding	FKBP36	7q11.23	FKBP prolyl isomerase family member 6 (inactive)	The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is located in a chromosomal region that is deleted in Williams-Beuren syndrome. Defects in this gene may cause male infertility. There are multiple pseudogenes for this gene located nearby on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
FKBP7	chr2	178463664	178478600	-	ENSG00000079150.17	protein_coding	FKBP23|PPIase	2q31.2	FKBP prolyl isomerase 7	The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. Members of this family exhibit PPIase activity and function as molecular chaperones. A similar protein in mouse is located in the endoplasmic reticulum and binds calcium. [provided by RefSeq, Jul 2008]
FKBP8	chr19	18531751	18544077	-	ENSG00000105701.15	protein_coding	FKBP38|FKBPr38	19p13.11	FKBP prolyl isomerase 8	The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefSeq, Jul 2008]
FKBP9	chr7	32957404	33006931	+	ENSG00000122642.10	protein_coding	FKBP60|FKBP63|PPIase	7p14.3	FKBP prolyl isomerase 9	Ubiquitous expression in fat (RPKM 23.7), placenta (RPKM 21.9) and 24 other tissues
FKBP9P1	chr7	55681074	55713252	-	ENSG00000176826.15	transcribed_unprocessed_pseudogene	FKBP9L	7p11.2	FKBP prolyl isomerase 9 pseudogene 1	Predicted to enable calcium ion binding activity and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein peptidyl-prolyl isomerization. [provided by Alliance of Genome Resources, Apr 2022]
FKBPL	chr6	32128707	32130291	-	ENSG00000204315.3	protein_coding	DIR1|NG7|WISP39	6p21.32	FKBP prolyl isomerase like	The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The encoded protein is thought to have a potential role in the induced radioresistance. Also it appears to have some involvement in the control of the cell cycle. [provided by RefSeq, Jul 2008]
FKRP	chr19	46746046	46776988	+	ENSG00000181027.10	protein_coding	FKTR|LGMD2I|LGMDR9|MDC1C|MDDGA5|MDDGB5|MDDGC5	19q13.32	fukutin related protein	This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]
FKTN	chr9	105558130	105641118	+	ENSG00000106692.13	protein_coding	CMD1X|FCMD|LGMD2M|LGMDR13|MDDGA4|MDDGB4|MDDGC4	9q31.2	fukutin	The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]
FLACC1	chr2	 201288271	201364289	-	ENSG00000155749	protein-coding	ALS2CR12	2q33.1	flagellum associated containing coiled-coil domains 1	Biased expression in testis (RPKM 8.4), lung (RPKM 1.1) and 3 other tissues
FLAD1	chr1	154983338	154993111	+	ENSG00000160688.18	protein_coding	FAD1|FADS|LSMFLAD|PP591	1q21.3	flavin adenine dinucleotide synthetase 1	This gene encodes the enzyme that catalyzes adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
FLCN	chr17	17212212	17237188	-	ENSG00000154803.12	protein_coding	BHD|DENND8B|FLCL	17p11.2	folliculin	This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
FLG	chr1	152302175	152325203	-	ENSG00000143631.10	protein_coding	ATOD2	1q21.3	filaggrin	The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]
FLG-AS1	chr1	152168125	152445456	+	ENSG00000237975.6	antisense	-	1q21.3	FLG antisense RNA 1	-
FLG2	chr1	152348735	152360006	-	ENSG00000143520.6	protein_coding	IFPS|PSS6	1q21.3	filaggrin family member 2	The filaggrin-like protein encoded by this gene is upregulated by calcium, proteolyzed by calpain 1, and is involved in epithelial homeostasis. The encoded protein is required for proper cornification in skin, with defects in this gene being associated with skin diseases. This protein also has a function in skin barrier protection. In fact, in addition to providing a physical barrier, C-terminal fragments of this protein display antimicrobial activity against P. aeruginosa and E. coli. [provided by RefSeq, Jul 2020]
FLI1	chr11	128686535	128813267	+	ENSG00000151702.16	protein_coding	BDPLT21|EWSR2|SIC-1	11q24.3	Fli-1 proto-oncogene, ETS transcription factor	This gene encodes a transcription factor containing an ETS DNA-binding domain. The gene can undergo a t(11;22)(q24;q12) translocation with the Ewing sarcoma gene on chromosome 22, which results in a fusion gene that is present in the majority of Ewing sarcoma cases. An acute lymphoblastic leukemia-associated t(4;11)(q21;q23) translocation involving this gene has also been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
FLII	chr17	18244836	18258916	-	ENSG00000177731.15	protein_coding	FLI|FLIL|Fli1	17p11.2	FLII actin remodeling protein	This gene encodes a protein with a gelsolin-like actin binding domain and an N-terminal leucine-rich repeat-protein protein interaction domain. The protein is similar to a Drosophila protein involved in early embryogenesis and the structural organization of indirect flight muscle. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
FLJ12825	chr12	54058254	54122234	+	ENSG00000248265.1	lincRNA	-	12q13.13	uncharacterized LOC440101	-
FLJ13224	chr12	31324316	31325829	+	ENSG00000177340.5	antisense	-	12p11.21	uncharacterized LOC79857	-
FLJ20021	chr4	101347780	101348883	+	ENSG00000254531.1	lincRNA	-	4q24	uncharacterized LOC90024	-
FLJ21408	chr16	27268205	27290492	+	ENSG00000245888.6	antisense	-	-	-	-
FLJ27354	chr1	89583241	89632894	-	ENSG00000231999.6	antisense	-	-	-	-
FLJ30679	chr16	86555320	86557299	+	ENSG00000280278.1	TEC	-	16q24.1	uncharacterized protein FLJ30679	-
FLJ31356	chr2	28384409	28394672	-	ENSG00000229951.5	antisense	-	-	-	-
FLJ40194	chr17	49248239	49258662	+	ENSG00000177369.8	processed_transcript	-	17q21.32	uncharacterized FLJ40194	-
FLNB	chr3	58008400	58172251	+	ENSG00000136068.14	protein_coding	ABP-278|ABP-280|AOI|FH1|FLN-B|FLN1L|LRS1|SCT|TABP|TAP	3p14.3	filamin B	This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]
FLNB-AS1	chr3	58162547	58170636	-	ENSG00000244161.1	antisense	-	3p14.3	FLNB antisense RNA 1	-
FLNC	chr7	128830377	128859274	+	ENSG00000128591.15	protein_coding	ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5	7q32.1	filamin C	This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
FLOT1	chr6	30727709	30742733	-	ENSG00000137312.14	protein_coding	-	6p21.33	flotillin 1	Ubiquitous expression in adrenal (RPKM 66.3), heart (RPKM 56.6) and 25 other tissues
FLOT2	chr17	28879335	28897679	-	ENSG00000132589.15	protein_coding	ECS-1|ECS1|ESA|ESA1|M17S1	17q11.2	flotillin 2	Caveolae are small domains on the inner cell membrane involved in vesicular trafficking and signal transduction. This gene encodes a caveolae-associated, integral membrane protein, which is thought to function in neuronal signaling. [provided by RefSeq, Jul 2008]
FLRT1	chr11	64103188	64119173	+	ENSG00000126500.3	protein_coding	SPG68	11q13.1	fibronectin leucine rich transmembrane protein 1	This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. The family members may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. The encoded protein shares sequence similarity with two other family members, FLRT2 and FLRT3. This gene is expressed in kidney and brain. [provided by RefSeq, Jul 2008]
FLRT2	chr14	85530144	85654426	+	ENSG00000185070.10	protein_coding	-	14q31.3	fibronectin leucine rich transmembrane protein 2	Ubiquitous expression in ovary (RPKM 6.8), brain (RPKM 2.7) and 21 other tissues
FLRT3	chr20	14322988	14337616	-	ENSG00000125848.9	protein_coding	HH21	20p12.1	fibronectin leucine rich transmembrane protein 3	This gene encodes a member of the fibronectin leucine rich transmembrane protein (FLRT) family. FLRTs may function in cell adhesion and/or receptor signalling. Their protein structures resemble small leucine-rich proteoglycans found in the extracellular matrix. This gene is expressed in many tissues. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2010]
FLT1	chr13	28300344	28495145	-	ENSG00000102755.11	protein_coding	FLT|FLT-1|VEGFR-1|VEGFR1	13q12.3	fms related receptor tyrosine kinase 1	This gene encodes a member of the vascular endothelial growth factor receptor (VEGFR) family. VEGFR family members are receptor tyrosine kinases (RTKs) which contain an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. This protein binds to VEGFR-A, VEGFR-B and placental growth factor and plays an important role in angiogenesis and vasculogenesis. Expression of this receptor is found in vascular endothelial cells, placental trophoblast cells and peripheral blood monocytes. Multiple transcript variants encoding different isoforms have been found for this gene. Isoforms include a full-length transmembrane receptor isoform and shortened, soluble isoforms. The soluble isoforms are associated with the onset of pre-eclampsia.[provided by RefSeq, May 2009]
FLT1P1	chr3	46142358	46143677	-	ENSG00000229515.1	processed_pseudogene	-	3p21.31	FLT1 pseudogene 1	-
FLT3	chr13	28003274	28100592	-	ENSG00000122025.14	protein_coding	CD135|FLK-2|FLK2|STK1	13q12.2	fms related receptor tyrosine kinase 3	This gene encodes a class III receptor tyrosine kinase that regulates hematopoiesis. This receptor is activated by binding of the fms-related tyrosine kinase 3 ligand to the extracellular domain, which induces homodimer formation in the plasma membrane leading to autophosphorylation of the receptor. The activated receptor kinase subsequently phosphorylates and activates multiple cytoplasmic effector molecules in pathways involved in apoptosis, proliferation, and differentiation of hematopoietic cells in bone marrow. Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. [provided by RefSeq, Jan 2015]
FLT3LG	chr19	49474207	49486231	+	ENSG00000090554.12	protein_coding	FL|FLG3L|FLT3L	19q13.33	fms related receptor tyrosine kinase 3 ligand	Dendritic cells (DCs) provide the key link between innate and adaptive immunity by recognizing pathogens and priming pathogen-specific immune responses. FLT3LG controls the development of DCs and is particularly important for plasmacytoid DCs and CD8 (see MIM 186910)-positive classical DCs and their CD103 (ITGAE; MIM 604682)-positive tissue counterparts (summary by Sathaliyawala et al., 2010 [PubMed 20933441]).[supplied by OMIM, Jan 2011]
FLT4	chr5	180601506	180649624	-	ENSG00000037280.15	protein_coding	CHTD7|FLT-4|FLT41|LMPH1A|LMPHM1|PCL|VEGFR-3|VEGFR3	5q35.3	fms related receptor tyrosine kinase 4	This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic endothelium. Mutations in this gene cause hereditary lymphedema type IA. [provided by RefSeq, Jul 2008]
FLVCR1	chr1	212858255	212899363	+	ENSG00000162769.12	protein_coding	AXPC1|FLVCR|MFSD7B|PCA|PCARP|SLC49A1	1q32.3	FLVCR heme transporter 1	This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011]
FLVCR2	chr14	75578617	75663214	+	ENSG00000119686.9	protein_coding	C14orf58|CCT|EPV|FLVCRL14q|MFSD7C|PVHH|SLC49A2	14q24.3	FLVCR heme transporter 2	This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subgroup C receptor 1, the protein encoded by this locus does not bind to feline leukemia virus subgroup C envelope protein. The encoded protein may play a role in development of brain vascular endothelial cells, as mutations at this locus have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Aug 2010]
FLYWCH1	chr16	2911937	2951208	+	ENSG00000059122.16	protein_coding	-	16p13.3	FLYWCH-type zinc finger 1	-
FLYWCH2	chr16	2883186	2899382	+	ENSG00000162076.12	protein_coding	-	16p13.3	FLYWCH family member 2	-
FMC1	chr7	139339457	139346319	+	ENSG00000164898.12	protein_coding	C7orf55|HSPC268	7q34	formation of mitochondrial complex V assembly factor 1 homolog	Broad expression in testis (RPKM 11.0), kidney (RPKM 8.7) and 25 other tissues
FMC1-LUC7L2	chr7	 139341337	139423454	+	ENSG00000269955	protein-coding	C7orf55|C7orf55-LUC7L2|FMC1	7q34	FMC1-LUC7L2 readthrough	This locus represents naturally occurring readthrough transcription between the neighboring C7orf55 (chromosome 7 open reading frame 55) and LUC7L2 (LUC7-like 2) genes on chromosome 7. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jul 2012]
FMN1	chr15	32765545	33194733	-	ENSG00000248905.8	protein_coding	FMN|LD	15q13.3	formin 1	This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]
FMN2	chr1	240014348	240475189	+	ENSG00000155816.19	protein_coding	-	1q43	formin 2	Biased expression in brain (RPKM 8.0), adrenal (RPKM 0.9) and 3 other tissues
FMNL1	chr17	45221444	45247320	+	ENSG00000184922.13	protein_coding	C17orf1|C17orf1B|FHOD4|FMNL|KW-13	17q21.31	formin like 1	This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]
FMNL2	chr2	152335237	152649834	+	ENSG00000157827.19	protein_coding	FHOD2	2q23.3	formin like 2	This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
FMNL3	chr12	49636499	49708165	-	ENSG00000161791.13	protein_coding	FHOD3|FRL2|WBP-3|WBP3	12q13.12	formin like 3	The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
FMO1	chr1	171248471	171285978	+	ENSG00000010932.16	protein_coding	-	1q24.3	flavin containing dimethylaniline monoxygenase 1	Biased expression in kidney (RPKM 54.7), small intestine (RPKM 8.2) and 1 other tissue
FMO2	chr1	171185208	171211230	+	ENSG00000094963.13	protein_coding	FMO1B1	1q24.3	flavin containing dimethylaniline monoxygenase 2	This gene encodes a flavin-containing monooxygenase family member. It is an NADPH-dependent enzyme that catalyzes the N-oxidation of some primary alkylamines through an N-hydroxylamine intermediate. However, some human populations contain an allele (FMO2*2A) with a premature stop codon, resulting in a protein that is C-terminally-truncated, has no catalytic activity, and is likely degraded rapidly. This gene is found in a cluster with other related family members on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
FMO3	chr1	171090877	171117819	+	ENSG00000007933.12	protein_coding	FMOII|TMAU|dJ127D3.1	1q24.3	flavin containing dimethylaniline monoxygenase 3	Flavin-containing monooxygenases (FMO) are an important class of drug-metabolizing enzymes that catalyze the NADPH-dependent oxygenation of various nitrogen-,sulfur-, and phosphorous-containing xenobiotics such as therapeutic drugs, dietary compounds, pesticides, and other foreign compounds. The human FMO gene family is composed of 5 genes and multiple pseudogenes. FMO members have distinct developmental- and tissue-specific expression patterns. The expression of this FMO3 gene, the major FMO expressed in adult liver, can vary up to 20-fold between individuals. This inter-individual variation in FMO3 expression levels is likely to have significant effects on the rate at which xenobiotics are metabolised and, therefore, is of considerable interest to the pharmaceutical industry. This transmembrane protein localizes to the endoplasmic reticulum of many tissues. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Mutations in this gene cause the disorder trimethylaminuria (TMAu) which is characterized by the accumulation and excretion of unmetabolized trimethylamine and a distinctive body odor. In healthy individuals, trimethylamine is primarily converted to the non odorous trimethylamine N-oxide.[provided by RefSeq, Jan 2016]
FMO4	chr1	171314208	171342084	+	ENSG00000076258.9	protein_coding	FMO2	1q24.3	flavin containing dimethylaniline monoxygenase 4	Metabolic N-oxidation of diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man. This results in a small subpopulation with reduced TMA N-oxidation capacity and causes fish odor syndrome (Trimethylaminuria). Three forms of the enzyme are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. [provided by RefSeq, Jan 2015]
FMO5	chr1	147175351	147243050	-	ENSG00000131781.12	protein_coding	hBVMO1	1q21.1	flavin containing dimethylaniline monoxygenase 5	Metabolic N-oxidation of the diet-derived amino-trimethylamine (TMA) is mediated by flavin-containing monooxygenase and is subject to an inherited FMO3 polymorphism in man resulting in a small subpopulation with reduced TMA N-oxidation capacity resulting in fish odor syndrome Trimethylaminuria. Three forms of the enzyme, FMO1 found in fetal liver, FMO2 found in adult liver, and FMO3 are encoded by genes clustered in the 1q23-q25 region. Flavin-containing monooxygenases are NADPH-dependent flavoenzymes that catalyzes the oxidation of soft nucleophilic heteroatom centers in drugs, pesticides, and xenobiotics. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
FMO6P	chr1	171137740	171161568	+	ENSG00000117507.6	transcribed_unitary_pseudogene	FMO6	1q24.3	flavin containing dimethylaniline monoxygenase 6, pseudogene	Biased expression in salivary gland (RPKM 4.7) and stomach (RPKM 0.8)
FMOD	chr1	203340628	203351489	-	ENSG00000122176.10	protein_coding	FM|SLRR2E	1q32.1	fibromodulin	Fibromodulin belongs to the family of small interstitial proteoglycans. The encoded protein possesses a central region containing leucine-rich repeats with 4 keratan sulfate chains, flanked by terminal domains containing disulphide bonds. Owing to the interaction with type I and type II collagen fibrils and in vitro inhibition of fibrillogenesis, the encoded protein may play a role in the assembly of extracellular matrix. It may also regulate TGF-beta activities by sequestering TGF-beta into the extracellular matrix. Sequence variations in this gene may be associated with the pathogenesis of high myopia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
FN1	chr2	215360440	215436172	-	ENSG00000115414.18	protein_coding	CIG|ED-B|FINC|FN|FNZ|GFND|GFND2|LETS|MSF|SMDCF	2q35	fibronectin 1	This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. The encoded preproprotein is proteolytically processed to generate the mature protein. Fibronectin is involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. The full-length nature of some variants has not been determined. [provided by RefSeq, Jan 2016]
FN3K	chr17	82735575	82751197	+	ENSG00000167363.13	protein_coding	-	17q25.3	fructosamine 3 kinase	Broad expression in kidney (RPKM 47.7), brain (RPKM 22.0) and 20 other tissues
FN3KRP	chr17	82716683	82730328	+	ENSG00000141560.14	protein_coding	FN3KL	17q25.3	fructosamine 3 kinase related protein	A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of psicosamines and ribulosamines compared to the neighboring gene which encodes a highly similar enzyme, fructosamine-3-kinase, which has different substrate specificity. The activity of both enzymes may result in deglycation of proteins to restore their function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
FNBP1	chr9	129887187	130043194	-	ENSG00000187239.16	protein_coding	FBP17	9q34.11	formin binding protein 1	The protein encoded by this gene is a member of the formin-binding-protein family. The protein contains an N-terminal Fer/Cdc42-interacting protein 4 (CIP4) homology (FCH) domain followed by a coiled-coil domain, a proline-rich motif, a second coiled-coil domain, a Rho family protein-binding domain (RBD), and a C-terminal SH3 domain. This protein binds sorting nexin 2 (SNX2), tankyrase (TNKS), and dynamin; an interaction between this protein and formin has not been demonstrated yet in human. [provided by RefSeq, Jul 2008]
FNBP1L	chr1	93448131	93554661	+	ENSG00000137942.16	protein_coding	C1orf39|TOCA1	1p22.1	formin binding protein 1 like	The protein encoded by this gene binds to both CDC42 and N-WASP. This protein promotes CDC42-induced actin polymerization by activating the N-WASP-WIP complex and, therefore, is involved in a pathway that links cell surface signals to the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
FNBP1P1	chr2	74120680	74123218	+	ENSG00000257800.1	processed_pseudogene	-	2p13.1	formin binding protein 1 pseudogene 1	-
FNBP4	chr11	47716517	47767443	-	ENSG00000109920.12	protein_coding	FBP30	11p11.2	formin binding protein 4	This gene encodes a protein containing two tryptophan-rich WW domains that binds the proline-rich formin homology 1 domains of formin family proteins, suggesting a role in the regulation of cytoskeletal dynamics during cell division and migration. It also binds intersectin family proteins suggesting a role in the maintenance of membrane curvature at sites of nascent vesicle formation. Naturally occurring mutations in this gene are associated with Waardenburg anophthalmia syndrome. [provided by RefSeq, Apr 2017]
FNDC1	chr6	159169397	159272109	+	ENSG00000164694.16	protein_coding	AGS8|FNDC2|MEL4B3|bA243O10.1|dJ322A24.1	6q25.3	fibronectin type III domain containing 1	Biased expression in gall bladder (RPKM 10.5), thyroid (RPKM 9.5) and 12 other tissues
FNDC10	chr1	1598012	1600096	-	ENSG00000228594.3	protein_coding	C1orf233	1p36.33	fibronectin type III domain containing 10	-
FNDC11	chr20	63547891	63556708	+	ENSG00000125531.6	protein_coding	C20orf195	20q13.33	fibronectin type III domain containing 11	Restricted expression toward testis (RPKM 14.6)
FNDC3A	chr13	48975912	49209779	+	ENSG00000102531.16	protein_coding	FNDC3|HUGO|bA203I16.1|bA203I16.5	13q14.2	fibronectin type III domain containing 3A	Ubiquitous expression in thyroid (RPKM 26.8), adrenal (RPKM 18.9) and 25 other tissues
FNDC3B	chr3	172039628	172401665	+	ENSG00000075420.12	protein_coding	FAD104|PRO4979|YVTM2421	3q26.31	fibronectin type III domain containing 3B	Ubiquitous expression in placenta (RPKM 15.6), thyroid (RPKM 11.7) and 25 other tissues
FNDC4	chr2	27491883	27495245	-	ENSG00000115226.9	protein_coding	FRCP1	2p23.3	fibronectin type III domain containing 4	Biased expression in adrenal (RPKM 35.7), brain (RPKM 13.1) and 11 other tissues
FNDC5	chr1	32862268	32872482	-	ENSG00000160097.16	protein_coding	FRCP2|irisin	1p35.1	fibronectin type III domain containing 5	This gene encodes a secreted protein that is released from muscle cells during exercise. The encoded protein may participate in the development of brown fat. Translation of the precursor protein initiates at a non-AUG start codon at a position that is conserved as an AUG start codon in other organisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
FNDC7	chr1	108712657	108742740	+	ENSG00000143107.8	protein_coding	-	1p13.3	fibronectin type III domain containing 7	-
FNDC9	chr5	157341600	157345721	-	ENSG00000172568.4	protein_coding	C5orf40	5q33.3	fibronectin type III domain containing 9	Biased expression in brain (RPKM 8.0) and adrenal (RPKM 2.8)
FNIP1	chr5	131641714	131797063	-	ENSG00000217128.11	protein_coding	-	5q31.1	folliculin interacting protein 1	Ubiquitous expression in testis (RPKM 9.3), thyroid (RPKM 7.7) and 25 other tissues
FNIP2	chr4	158769138	158908049	+	ENSG00000052795.12	protein_coding	FNIPL|MAPO1	4q32.1	folliculin interacting protein 2	This gene encodes a protein that binds to the tumor suppressor folliculin and to AMP-activated protein kinase (AMPK), and may play a role cellular metabolism and nutrient sensing by regulating the AMPK-mechanistic target of rapamycin signaling pathway. The encoded protein may also be involved in regulating the O6-methylguanine-induced apoptosis signaling pathway. This gene has a closely related paralog that encodes a protein with similar binding activities. Both related proteins also associate with the molecular chaperone heat shock protein-90 (Hsp90) and negatively regulate its ATPase activity and facilitate its association with folliculin. [provided by RefSeq, Jul 2017]
FNTA	chr8	43034194	43085788	+	ENSG00000168522.12	protein_coding	FPTA|PGGT1A|PTAR2	8p11.21	farnesyltransferase, CAAX box, alpha	Prenyltransferases can attach either a farnesyl group or a geranylgeranyl group in thioether linkage to the cysteine residue of proteins with a C-terminal CAAX box. CAAX geranylgeranyltransferase and CAAX farnesyltransferase are heterodimers that share the same alpha subunit but have different beta subunits. This gene encodes the alpha subunit of these transferases. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 11 and 13. [provided by RefSeq, May 2010]
FNTB	chr14	64986720	65062652	+	ENSG00000257365.7	protein_coding	FPTB	14q23.3	farnesyltransferase, CAAX box, beta	Ubiquitous expression in testis (RPKM 9.3), brain (RPKM 8.2) and 25 other tissues
FOCAD	chr9	20658309	20995955	+	ENSG00000188352.12	protein_coding	KIAA1797	9p21.3	focadhesin	Ubiquitous expression in thyroid (RPKM 11.9), adrenal (RPKM 7.1) and 25 other tissues
FOLH1	chr11	49146635	49208670	-	ENSG00000086205.16	protein_coding	FGCP|FOLH|GCP2|GCPII|NAALAD1|PSM|PSMA|mGCP	11p11.12	folate hydrolase 1	This gene encodes a type II transmembrane glycoprotein belonging to the M28 peptidase family. The protein acts as a glutamate carboxypeptidase on different alternative substrates, including the nutrient folate and the neuropeptide N-acetyl-l-aspartyl-l-glutamate and is expressed in a number of tissues such as prostate, central and peripheral nervous system and kidney. A mutation in this gene may be associated with impaired intestinal absorption of dietary folates, resulting in low blood folate levels and consequent hyperhomocysteinemia. Expression of this protein in the brain may be involved in a number of pathological conditions associated with glutamate excitotoxicity. In the prostate the protein is up-regulated in cancerous cells and is used as an effective diagnostic and prognostic indicator of prostate cancer. This gene likely arose from a duplication event of a nearby chromosomal region. Alternative splicing gives rise to multiple transcript variants encoding several different isoforms. [provided by RefSeq, Jul 2010]
FOLH1B	chr11	89639227	89698718	+	ENSG00000134612.11	transcribed_unprocessed_pseudogene	FOLH2|FOLHP|PSM|PSMA-LIKE|PSMAL	11q14.3	folate hydrolase 1B	Enables metallocarboxypeptidase activity. Involved in C-terminal protein deglutamylation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
FOLR1	chr11	72189558	72196323	+	ENSG00000110195.12	protein_coding	FBP|FOLR|FRalpha|NCFTD	11q13.4	folate receptor alpha	The protein encoded by this gene is a member of the folate receptor family. Members of this gene family bind folic acid and its reduced derivatives, and transport 5-methyltetrahydrofolate into cells. This gene product is a secreted protein that either anchors to membranes via a glycosyl-phosphatidylinositol linkage or exists in a soluble form. Mutations in this gene have been associated with neurodegeneration due to cerebral folate transport deficiency. Due to the presence of two promoters, multiple transcription start sites, and alternative splicing, multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]
FOLR2	chr11	72216601	72221950	+	ENSG00000165457.13	protein_coding	BETA-HFR|FBP|FBP/PL-1|FOLR1|FR-BETA|FR-P3|FRbeta	11q13.4	folate receptor beta	The protein encoded by this gene is a member of the folate receptor (FOLR) family, and these genes exist in a cluster on chromosome 11. Members of this gene family have a high affinity for folic acid and for several reduced folic acid derivatives, and they mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This protein has a 68% and 79% sequence homology with the FOLR1 and FOLR3 proteins, respectively. Although this protein was originally thought to be specific to placenta, it can also exist in other tissues, and it may play a role in the transport of methotrexate in synovial macrophages in rheumatoid arthritis patients. Multiple transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
FOLR3	chr11	72114869	72139892	+	ENSG00000110203.8	protein_coding	FR-G|FR-gamma|FRgamma|gamma-hFR	11q13.4	folate receptor gamma	This gene encodes a member of the folate receptor (FOLR) family of proteins, which have a high affinity for folic acid and for several reduced folic acid derivatives, and mediate delivery of 5-methyltetrahydrofolate to the interior of cells. Expression of this gene may be elevated in ovarian and primary peritoneal carcinoma. This gene is present in a gene cluster on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
FOS	chr14	75278774	75282230	+	ENSG00000170345.9	protein_coding	AP-1|C-FOS|p55	14q24.3	Fos proto-oncogene, AP-1 transcription factor subunit	The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2.  These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1.  As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation.  In some cases, expression of the FOS gene has also been associated with apoptotic cell death. [provided by RefSeq, Jul 2008]
FOSB	chr19	45467995	45475179	+	ENSG00000125740.13	protein_coding	AP-1|G0S3|GOS3|GOSB	19q13.32	FosB proto-oncogene, AP-1 transcription factor subunit	The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
FOSL1	chr11	65892049	65900573	-	ENSG00000175592.8	protein_coding	FRA|FRA1|fra-1	11q13.1	FOS like 1, AP-1 transcription factor subunit	The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
FOSL2	chr2	28392448	28417312	+	ENSG00000075426.11	protein_coding	FRA2	2p23.2	FOS like 2, AP-1 transcription factor subunit	The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. [provided by RefSeq, Jul 2014]
FOXA2	chr20	22581005	22585455	-	ENSG00000125798.14	protein_coding	HNF-3-beta|HNF3B|TCF3B	20p11.21	forkhead box A2	This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific genes such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. This gene has been linked to sporadic cases of maturity-onset diabetes of the young. Transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]
FOXA3	chr19	45863989	45873797	+	ENSG00000170608.2	protein_coding	FKHH3|HNF3G|TCF3G	19q13.32	forkhead box A3	This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. The crystal structure of a similar protein in rat has been resolved. [provided by RefSeq, Jul 2008]
FOXC1	chr6	1609972	1613897	+	ENSG00000054598.6	protein_coding	ARA|ASGD3|FKHL7|FREAC-3|FREAC3|IGDA|IHG1|IRID1|RIEG3	6p25.3	forkhead box C1	This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain.  The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development.  Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. [provided by RefSeq, Jul 2008]
FOXC2-AS1	chr16	86565145	86567761	-	ENSG00000260944.1	antisense	ODRUL	16q24.1	FOXC2 antisense RNA 1	Broad expression in kidney (RPKM 1.2), testis (RPKM 0.8) and 15 other tissues
FOXD1	chr5	73444827	73448527	-	ENSG00000251493.4	protein_coding	FKHL8|FREAC-4|FREAC4	5q13.2	forkhead box D1	This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. Studies of the orthologous mouse protein indicate that it functions in kidney development by promoting nephron progenitor differentiation, and it also functions in the development of the retina and optic chiasm. It may also regulate inflammatory reactions and prevent autoimmunity. [provided by RefSeq, Apr 2014]
FOXD2	chr1	47436017	47440691	+	ENSG00000186564.5	protein_coding	FKHL17|FREAC-9|FREAC9	1p33	forkhead box D2	This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain.  The specific function of this gene has not yet been determined. [provided by RefSeq, Jul 2008]
FOXD2-AS1	chr1	47432133	47434641	-	ENSG00000237424.1	antisense	-	1p33	FOXD2 adjacent opposite strand RNA 1	-
FOXD3	chr1	63323041	63325126	+	ENSG00000187140.5	protein_coding	AIS1|Genesis|HFH2|VAMAS2	1p31.3	forkhead box D3	This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. Mutations in this gene cause autoimmune susceptibility 1. [provided by RefSeq, Nov 2008]
FOXD4L1	chr2	113498665	113501155	+	ENSG00000184492.6	protein_coding	FOXD5|bA395L14.1	2q14.1	forkhead box D4 like 1	This gene is a member of the forkhead/winged-helix (FOX) family of transcription factors with highly conserved FOX DNA-binding domains. Members of the FOX family of transcription factors are regulators of embryogenesis and may play a role in human cancer. This gene lies in a region of chromosome 2 that surrounds the site where two ancestral chromosomes fused to form human chromosome 2. This region is duplicated elsewhere in the human genome, primarily in subtelomeric and pericentromeric locations, thus mutiple copies of this gene have been found. [provided by RefSeq, Jul 2008]
FOXD4L6	chr9	41126430	41128463	-	ENSG00000273514.1	protein_coding	-	9p11.2	forkhead box D4 like 6	-
FOXE1	chr9	97853254	97856715	+	ENSG00000178919.8	protein_coding	FKHL15|FOXE2|HFKH4|HFKL5|NMTC4|TITF2|TTF-2|TTF2	9q22.33	forkhead box E1	This intronless gene encodes a protein that belongs to the forkhead family of transcription factors. Members of this family contain a conserved 100-amino acid DNA-binding forkhead domain. The encoded protein functions as a thyroid transcription factor that plays a role in thyroid morphogenesis. Mutations in this gene are associated with the Bamforth-Lazarus syndrome, and with susceptibility to nonmedullary thyroid cancer-4. [provided by RefSeq, Nov 2016]
FOXE3	chr1	47416072	47418052	+	ENSG00000186790.5	protein_coding	AAT11|ASGD2|CTRCT34|FKHL12|FREAC8	1p33	forkhead box E3	This intronless gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. The protein encoded functions as a lens-specific transcription factor and plays an important role in vertebrate lens formation. Mutations in this gene are associated with anterior segment mesenchymal dysgenesis and congenital primary aphakia. [provided by RefSeq, Dec 2009]
FOXF1	chr16	86510527	86515418	+	ENSG00000103241.6	protein_coding	ACDMPV|FKHL5|FREAC1	16q24.1	forkhead box F1	This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain.  The specific function of this gene has not yet been determined; however, it may play a role in the regulation of pulmonary genes as well as embryonic development. [provided by RefSeq, Jul 2008]
FOXF2	chr6	1389834	1395597	+	ENSG00000137273.3	protein_coding	FKHL6|FREAC-2|FREAC2	6p25.3	forkhead box F2	FOXF2 encodes forkhead box F2, one of many human homologues of the Drosophila melanogaster transcription factor forkhead. FOXF2 is expressed in lung and placenta, and has been shown to transcriptionally activate several lung-specific genes. [provided by RefSeq, Jul 2008]
FOXH1	chr8	144473412	144476335	-	ENSG00000160973.7	protein_coding	FAST-1|FAST1	8q24.3	forkhead box H1	FOXH1 encodes a human homolog of Xenopus forkhead activin signal transducer-1. FOXH1 protein binds SMAD2 and activates an activin response element via binding the DNA motif TGT(G/T)(T/G)ATT. [provided by RefSeq, Jul 2008]
FOXI3	chr2	88446787	88452656	-	ENSG00000214336.4	protein_coding	-	2p11.2	forkhead box I3	-
FOXJ1	chr17	76136333	76141299	-	ENSG00000129654.7	protein_coding	CILD43|FKHL13|HFH-4|HFH4	17q25.1	forkhead box J1	This gene encodes a member of the forkhead family of transcription factors. Similar genes in zebrafish and mouse have been shown to regulate the transcription of genes that control the production of motile cilia. The mouse ortholog also functions in the determination of left-right asymmetry. Polymorphisms in this gene are associated with systemic lupus erythematosus and allergic rhinitis.[provided by RefSeq, Sep 2009]
FOXJ2	chr12	8032703	8055503	+	ENSG00000065970.8	protein_coding	FHX	12p13.31	forkhead box J2	Ubiquitous expression in endometrium (RPKM 8.4), ovary (RPKM 8.2) and 25 other tissues
FOXJ3	chr1	42176539	42335877	-	ENSG00000198815.8	protein_coding	-	1p34.2	forkhead box J3	-
FOXK1	chr7	4682309	4771443	+	ENSG00000164916.10	protein_coding	FOXK1L	7p22.1	forkhead box K1	Enables 14-3-3 protein binding activity; DNA-binding transcription repressor activity, RNA polymerase II-specific; and transcription cis-regulatory region binding activity. Involved in several processes, including cellular glucose homeostasis; negative regulation of autophagy; and regulation of transcription, DNA-templated. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
FOXK2	chr17	82519713	82644662	+	ENSG00000141568.20	protein_coding	ILF|ILF-1|ILF1|nGTBP	17q25.3	forkhead box K2	The protein encoded by this gene contains a fork head DNA binding domain. This protein can bind to the purine-rich motifs of the HIV long terminal repeat (LTR), and to the similar purine-rich motif in the interleukin 2 (IL2) promoter. It may be involved in the regulation of viral and cellular promoter elements. [provided by RefSeq, Jul 2008]
FOXL1	chr16	86576368	86582160	+	ENSG00000176678.5	protein_coding	FKH6|FKHL11|FREAC7	16q24.1	forkhead box L1	This gene encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors are characterized by a distinct DNA-binding forkhead domain and play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. [provided by RefSeq, Nov 2012]
FOXL2NB	chr3	138947234	138953451	+	ENSG00000206262.8	protein_coding	C3orf72	3q22.3	FOXL2 neighbor	Biased expression in ovary (RPKM 15.2) and endometrium (RPKM 8.8)
FOXM1	chr12	2857681	2877155	-	ENSG00000111206.12	protein_coding	FKHL16|FOXM1A|FOXM1B|FOXM1C|HFH-11|HFH11|HNF-3|INS-1|MPHOSPH2|MPP-2|MPP2|PIG29|TRIDENT	12p13.33	forkhead box M1	The protein encoded by this gene is a transcriptional activator involved in cell proliferation. The encoded protein is phosphorylated in M phase and regulates the expression of several cell cycle genes, such as cyclin B1 and cyclin D1. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
FOXN1	chr17	28506243	28538896	+	ENSG00000109101.7	protein_coding	FKHL20|RONU|TIDAND|TLIND|WHN	17q11.2	forkhead box N1	Mutations in the winged-helix transcription factor gene at the nude locus in mice and rats produce the pleiotropic phenotype of hairlessness and athymia, resulting in a severely compromised immune system. This gene is orthologous to the mouse and rat genes and encodes a similar DNA-binding transcription factor that is thought to regulate keratin gene expression. A mutation in this gene has been correlated with T-cell immunodeficiency, the skin disorder congenital alopecia, and nail dystrophy. Alternative splicing in the 5 UTR of this gene has been observed. [provided by RefSeq, Jul 2008]
FOXN2	chr2	48314637	48379294	+	ENSG00000170802.15	protein_coding	HTLF	2p16.3	forkhead box N2	This gene encodes a forkhead domain binding protein and may function in the transcriptional regulation of the human T-cell leukemia virus long terminal repeat. [provided by RefSeq, Jul 2008]
FOXN3	chr14	89124871	89619149	-	ENSG00000053254.15	protein_coding	C14orf116|CHES1|PRO1635	14q31.3-q32.11	forkhead box N3	This gene is a member of the forkhead/winged helix transcription factor family. Checkpoints are eukaryotic DNA damage-inducible cell cycle arrests at G1 and G2. Checkpoint suppressor 1 suppresses multiple yeast checkpoint mutations including mec1, rad9, rad53 and dun1 by activating a MEC1-independent checkpoint pathway. Alternative splicing is observed at the locus, resulting in distinct isoforms. [provided by RefSeq, Jul 2008]
FOXN4	chr12	109277979	109309220	-	ENSG00000139445.17	protein_coding	-	12q24.11	forkhead box N4	Restricted expression toward testis (RPKM 2.5)
FOXO1	chr13	40469953	40666597	-	ENSG00000150907.7	protein_coding	FKH1|FKHR|FOXO1A	13q14.11	forkhead box O1	This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain.  The specific function of this gene has not yet been determined; however, it may play a role in myogenic growth and differentiation. Translocation of this gene with PAX3 has been associated with alveolar rhabdomyosarcoma. [provided by RefSeq, Jul 2008]
FOXO3	chr6	108559835	108684774	+	ENSG00000118689.14	protein_coding	AF6q21|FKHRL1|FKHRL1P2|FOXO2|FOXO3A	6q21	forkhead box O3	This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
FOXO3B	chr17	18670946	18672873	-	ENSG00000240445.3	processed_pseudogene	FKHRL1P1|ZNF286C	17p11.2	forkhead box O3B	-
FOXO4	chrX	71096197	71103535	+	ENSG00000184481.16	protein_coding	AFX|AFX1|MLLT7	Xq13.1	forkhead box O4	This gene encodes a member of the O class of winged helix/forkhead transcription factor family. Proteins encoded by this class are regulated by factors involved in growth and differentiation indicating they play a role in these processes. A translocation involving this gene on chromosome X and the homolog of the Drosophila trithorax gene, encoding a DNA binding protein, located on chromosome 11 is associated with leukemia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
FOXO6	chr1	41361922	41383590	+	ENSG00000204060.6	protein_coding	-	1p34.2	forkhead box O6	Annotation category: partial on reference assembly
FOXP1	chr3	70954693	71583989	-	ENSG00000114861.18	protein_coding	12CC4|HSPC215|MFH|QRF1|hFKH1B	3p13	forkhead box P1	This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Forkhead box P1 protein contains both DNA-binding- and protein-protein binding-domains. This gene may act as a tumor suppressor as it is lost in several tumor types and maps to a chromosomal region (3p14.1) reported to contain a tumor suppressor gene(s). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
FOXP1-IT1	chr3	71570255	71574457	-	ENSG00000242094.1	sense_intronic	-	3p13	FOXP1 intronic transcript 1	-
FOXP2	chr7	114086327	114693772	+	ENSG00000128573.24	protein_coding	CAGH44|SPCH1|TNRC10	7q31.1	forkhead box P2	This gene encodes a member of the forkhead/winged-helix (FOX) family of transcription factors. It is expressed in fetal and adult brain as well as in several other organs such as the lung and gut. The protein product contains a FOX DNA-binding domain and a large polyglutamine tract and is an evolutionarily conserved transcription factor, which may bind directly to approximately 300 to 400 gene promoters in the human genome to regulate the expression of a variety of genes. This gene is required for proper development of speech and language regions of the brain during embryogenesis, and may be involved in a variety of biological pathways and cascades that may ultimately influence language development. Mutations in this gene cause speech-language disorder 1 (SPCH1), also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Multiple alternative transcripts encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
FOXP4	chr6	41546426	41602384	+	ENSG00000137166.14	protein_coding	hFKHLA	6p21.1	forkhead box P4	This gene belongs to subfamily P of the forkhead box (FOX) transcription factor family. Forkhead box transcription factors play important roles in the regulation of tissue- and cell type-specific gene transcription during both development and adulthood. Many members of the forkhead box gene family, including members of subfamily P, have roles in mammalian oncogenesis. This gene may play a role in the development of tumors of the kidney and larynx. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms. [provided by RefSeq, Jul 2008]
FOXQ1	chr6	1312440	1314748	+	ENSG00000164379.6	protein_coding	HFH1	6p25.3	forkhead box Q1	FOXQ1 is a member of the FOX gene family, which is characterized by a conserved 110-amino acid DNA-binding motif called the forkhead or winged helix domain. FOX genes are involved in embryonic development, cell cycle regulation, tissue-specific gene expression, cell signaling, and tumorigenesis (Bieller et al., 2001 [PubMed 11747606]).[supplied by OMIM, May 2009]
FOXR1	chr11	118971707	118981291	+	ENSG00000176302.12	protein_coding	DLNB13|FOXN5	11q23.3	forkhead box R1	This gene encodes a member of the forkhead box (FOX) family of transcription factors. FOX family members are monomeric, helix-turn-helix proteins with a core DNA-binding domain of approximately 110 aa. Many FOX transcription factors play roles in determining cell fates during early development. This forkhead box protein lacks the C-terminal basic region found in many other FOX family members. It is located within the 11q23.3 region which is commonly deleted in neuroblastomas. [provided by RefSeq, Jul 2008]
FOXRED1	chr11	126269055	126278131	+	ENSG00000110074.10	protein_coding	FP634|H17|MC1DN19	11q24.2	FAD dependent oxidoreductase domain containing 1	This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
FOXRED2	chr22	36487190	36507101	-	ENSG00000100350.14	protein_coding	ERFAD	22q12.3	FAD dependent oxidoreductase domain containing 2	Ubiquitous expression in brain (RPKM 9.7), ovary (RPKM 6.3) and 24 other tissues
FOXS1	chr20	31844301	31845619	-	ENSG00000179772.7	protein_coding	FKHL18|FREAC10	20q11.21	forkhead box S1	The forkhead family of transcription factors belongs to the winged helix class of DNA-binding proteins. The protein encoded by this intronless gene contains a forkhead domain and is found predominantly in aorta and kidney. The function of the encoded protein is unknown. [provided by RefSeq, Jul 2008]
FPGS	chr9	127794597	127814327	+	ENSG00000136877.14	protein_coding	-	9q34.11	folylpolyglutamate synthase	Ubiquitous expression in ovary (RPKM 14.6), fat (RPKM 12.1) and 25 other tissues
FPGT	chr1	74198212	74234086	+	ENSG00000254685.6	protein_coding	GFPP	1p31.1	fucose-1-phosphate guanylyltransferase	L-fucose is a key sugar in glycoproteins and other complex carbohydrates since it may be involved in many of the functional roles of these macromolecules, such as in cell-cell recognition. The fucosyl donor for these fucosylated oligosaccharides is GDP-beta-L-fucose. There are two alternate pathways for the biosynthesis of GDP-fucose; the major pathway converts GDP-alpha-D-mannose to GDP-beta-L-fucose. The protein encoded by this gene participates in an alternate pathway that is present in certain mammalian tissues, such as liver and kidney, and appears to function as a salvage pathway to reutilize L-fucose arising from the turnover of glycoproteins and glycolipids. This pathway involves the phosphorylation of L-fucose to form beta-L-fucose-1-phosphate, and then condensation of the beta-L-fucose-1-phosphate with GTP by fucose-1-phosphate guanylyltransferase to form GDP-beta-L-fucose. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream TNNI3 interacting kinase (TNNI3K) gene. [provided by RefSeq, Dec 2010]
FPR1	chr19	51745172	51804110	-	ENSG00000171051.8	protein_coding	FMLP|FPR	19q13.41	formyl peptide receptor 1	This gene encodes a G protein-coupled receptor of mammalian phagocytic cells that is a member of the G-protein coupled receptor 1 family. The protein mediates the response of phagocytic cells to invasion of the host by microorganisms and is important in host defense and inflammation.[provided by RefSeq, Jul 2010]
FPR2	chr19	51752026	51770526	+	ENSG00000171049.8	protein_coding	ALX|ALXR|FMLP-R-II|FMLPX|FPR2A|FPRH1|FPRH2|FPRL1|HM63|LXA4R	19q13.41	formyl peptide receptor 2	Biased expression in appendix (RPKM 23.5), spleen (RPKM 4.6) and 5 other tissues
FPR3	chr19	51795163	51826189	+	ENSG00000187474.4	protein_coding	FML2_HUMAN|FMLP-R-II|FMLPY|FPRH1|FPRH2|FPRL2|RMLP-R-I	19q13.41	formyl peptide receptor 3	Broad expression in appendix (RPKM 15.7), gall bladder (RPKM 12.8) and 22 other tissues
FRA10AC1	chr10	93667883	93702572	-	ENSG00000148690.11	protein_coding	C10orf4|F26C11.1-like|FRA10A	10q23.33	FRA10A associated CGG repeat 1	The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the 5 UTR of some transcript variants, but is intronic to another variant. The expanded repeat allele is a fragile site and becomes hypermethylated, causing a reduction in gene expression. A disease phenotype has not been associated with expanded alleles. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Dec 2016]
FRAS1	chr4	78057570	78544269	+	ENSG00000138759.18	protein_coding	FRASRS1	4q21.21	Fraser extracellular matrix complex subunit 1	This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development. Mutations in this gene cause Fraser syndrome, a multisystem malformation that can include craniofacial, urogenital and respiratory system abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
FRAT1	chr10	97319267	97321915	+	ENSG00000165879.8	protein_coding	-	10q24.1	FRAT regulator of WNT signaling pathway 1	-
FRAT2	chr10	97332497	97334709	-	ENSG00000181274.6	protein_coding	FRAT-2	10q24.1	FRAT regulator of WNT signaling pathway 2	The protein encoded by this intronless gene belongs to the GSK-3-binding protein family. Studies show that this protein plays a role as a positive regulator of the WNT signaling pathway. It may be upregulated in tumor progression. [provided by RefSeq, Jul 2008]
FREM1	chr9	14734666	14910995	-	ENSG00000164946.19	protein_coding	BNAR|C9orf143|C9orf145|C9orf154|MOTA|TILRR|TRIGNO2	9p22.3	FRAS1 related extracellular matrix 1	This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation. [provided by RefSeq, Apr 2011]
FREM3	chr4	143577302	143700675	-	ENSG00000183090.5	protein_coding	-	4q31.21	FRAS1 related extracellular matrix 3	Low expression observed in reference dataset
FRG1BP	chr20	30377372	30399257	+	ENSG00000149531.15	unprocessed_pseudogene	C20orf80|FRG1B|bA348I14.2	20q11.1-q11.21	FSHD region gene 1 family member B, pseudogene	-
FRG1CP	chr20	28580709	28602664	-	ENSG00000282826.1	unprocessed_pseudogene	-	20q11.1	FSHD region gene 1 family member C, pseudogene	-
FRG1DP	chr20	29080390	29102761	+	ENSG00000282870.1	unprocessed_pseudogene	-	20q11.1	FSHD region gene 1 family member D, pseudogene	-
FRG1EP	chr20	29480147	29497179	-	ENSG00000282995.1	unprocessed_pseudogene	-	20q11.1	FSHD region gene 1 family member E, pseudogene	-
FRK	chr6	115931149	116060758	-	ENSG00000111816.7	protein_coding	GTK|PTK5|RAK	6q22.1	fyn related Src family tyrosine kinase	The protein encoded by this gene belongs to the TYR family of protein kinases. This tyrosine kinase is a nuclear protein and may function during G1 and S phase of the cell cycle and suppress growth. [provided by RefSeq, Jul 2008]
FRMD1	chr6	168055745	168081557	-	ENSG00000153303.16	protein_coding	bA164L23.1	6q27	FERM domain containing 1	Biased expression in colon (RPKM 2.7), kidney (RPKM 2.0) and 7 other tissues
FRMD3	chr9	83242990	83538546	-	ENSG00000172159.15	protein_coding	4.1O|EPB41L4O|EPB41LO|P410	9q21.32	FERM domain containing 3	The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
FRMD4A	chr10	13643706	14462142	-	ENSG00000151474.21	protein_coding	CCAFCA|FRMD4|bA295P9.4	10p13	FERM domain containing 4A	This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimers disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
FRMD4B	chr3	69169990	69542583	-	ENSG00000114541.14	protein_coding	6030440G05Rik|GRSP1	3p14.1	FERM domain containing 4B	This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014]
FRMD5	chr15	43870761	44195252	-	ENSG00000171877.20	protein_coding	-	15q15.3	FERM domain containing 5	-
FRMD6-AS1	chr14	51649516	51651744	-	ENSG00000273888.1	antisense	C14orf82	14q22.1	FRMD6 antisense RNA 1	-
FRMD8	chr11	65386599	65413525	+	ENSG00000126391.13	protein_coding	FKSG44|iTAP	11q13.1	FERM domain containing 8	Ubiquitous expression in spleen (RPKM 9.9), skin (RPKM 9.0) and 25 other tissues
FRMPD1	chr9	37651000	37746904	+	ENSG00000070601.9	protein_coding	FRMD2	9p13.2	FERM and PDZ domain containing 1	Biased expression in testis (RPKM 3.6), skin (RPKM 1.1) and 2 other tissues
FRMPD2	chr10	48153088	48274870	-	ENSG00000170324.20	protein_coding	PDZD5C|PDZK4|PDZK5C	10q11.22	FERM and PDZ domain containing 2	This gene encodes a peripheral membrane protein and is located in a region of chromosome 10q that contains a segmental duplication. This copy of the gene is full-length and is in the telomeric duplicated region. Two other more centromerically proximal copies of the gene are partial and may represent pseudogenes. This full-length gene appears to function in the establishment and maintenance of cell polarization. The protein is recruited to cell-cell junctions in an E-cadherin-dependent manner, and is selectively localized at the basolateral membrane in polarized epithelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2009]
FRRS1L	chr9	109130293	109167291	-	ENSG00000260230.2	protein_coding	C9orf4|CG-6|CG6|DEE37|EIEE37	9q31.3	ferric chelate reductase 1 like	This gene encodes a component of the outer-core of an alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor protein in the brain. The encoded protein is thought to interact with inner-core components of the receptor, and play a role in the modulation of glutamate signaling. Mutations in this gene are associated with early infantile epileptic encephalopathy 37. [provided by RefSeq, Jul 2016]
FRS2	chr12	69470349	69579789	+	ENSG00000166225.8	protein_coding	FRS1A|FRS2A|FRS2alpha|SNT|SNT-1|SNT1	12q15	fibroblast growth factor receptor substrate 2	Ubiquitous expression in thyroid (RPKM 6.6), endometrium (RPKM 6.6) and 25 other tissues
FRS3	chr6	41770176	41786542	-	ENSG00000137218.10	protein_coding	FRS2-beta|FRS2B|FRS2beta|SNT-2|SNT2	6p21.1	fibroblast growth factor receptor substrate 3	This gene encodes a substrate for the fibroblast growth factor receptor. The encoded protein is found in the peripheral plasma membrane and links fibroblast growth factor receptor stimulation to activators of Ras. The encoded protein down-regulates extracellular regulated kinase 2 through direct binding. [provided by RefSeq, Jul 2013]
FRY	chr13	32031300	32299122	+	ENSG00000073910.19	protein_coding	13CDNA73|214K23.2|C13orf14|CG003|bA207N4.2|bA37E23.1	13q13.1	FRY microtubule binding protein	Ubiquitous expression in heart (RPKM 6.3), brain (RPKM 4.5) and 25 other tissues
FRYL	chr4	48497361	48780322	-	ENSG00000075539.13	protein_coding	AF4p12|KIAA0826|MOR2	4p11	FRY like transcription coactivator	Ubiquitous expression in colon (RPKM 15.9), lymph node (RPKM 5.8) and 24 other tissues
FRZB	chr2	182833275	182867162	-	ENSG00000162998.4	protein_coding	FRE|FRITZ|FRP-3|FRZB-1|FRZB-PEN|FRZB1|FZRB|OS1|SFRP3|SRFP3|hFIZ	2q32.1	frizzled related protein	The protein encoded by this gene is a secreted protein that is involved in the regulation of bone development. Defects in this gene are a cause of female-specific osteoarthritis (OA) susceptibility. [provided by RefSeq, Apr 2010]
FSBP	chr8	94372170	94436952	-	ENSG00000265817.2	protein_coding	-	8q22.1	fibrinogen silencer binding protein	-
FSCN1	chr7	5592823	5606655	+	ENSG00000075618.17	protein_coding	FAN1|HSN|SNL|p55	7p22.1	fascin actin-bundling protein 1	This gene encodes a member of the fascin family of actin-binding proteins. Fascin proteins organize F-actin into parallel bundles, and are required for the formation of actin-based cellular protrusions. The encoded protein plays a critical role in cell migration, motility, adhesion and cellular interactions. Expression of this gene is known to be regulated by several microRNAs, and overexpression of this gene may play a role in the metastasis of multiple types of cancer by increasing cell motility. Expression of this gene is also a marker for Reed-Sternberg cells in Hodgkins lymphoma. A pseudogene of this gene is located on the long arm of chromosome 15. [provided by RefSeq, Sep 2011]
FSCN2	chr17	81528396	81537130	+	ENSG00000186765.11	protein_coding	RFSN|RP30	17q25.3	fascin actin-bundling protein 2, retinal	This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
FSCN3	chr7	127591409	127602144	+	ENSG00000106328.9	protein_coding	-	7q32.1	fascin actin-bundling protein 3	Restricted expression toward testis (RPKM 43.5)
FSD1	chr19	4304600	4323843	+	ENSG00000105255.10	protein_coding	GLFND|MIR1	19p13.3	fibronectin type III and SPRY domain containing 1	This gene encodes a centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal repeats in splA and RyR (SPRY) domain. The encoded protein associates with a subset of microtubules and may be involved in the stability and organization of microtubules during cytokinesis. [provided by RefSeq, Apr 2009]
FSD1L	chr9	105447796	105552433	+	ENSG00000106701.11	protein_coding	CCDC10|CSDUFD1|FSD1CL|FSD1NL|MIR1	9q31.2	fibronectin type III and SPRY domain containing 1 like	Broad expression in brain (RPKM 4.1), testis (RPKM 1.7) and 22 other tissues
FSD2	chr15	82755362	82806070	-	ENSG00000186628.12	protein_coding	SPRYD1	15q25.2	fibronectin type III and SPRY domain containing 2	This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
FSHB	chr11	30231016	30235261	+	ENSG00000131808.10	protein_coding	HH24	11p14.1	follicle stimulating hormone subunit beta	The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
FSIP2	chr2	185738895	185833290	+	ENSG00000188738.14	protein_coding	SPGF34	2q32.1	fibrous sheath interacting protein 2	This gene encodes a protein associated with the sperm fibrous sheath. Genes encoding most of the fibrous-sheath associated proteins genes are transcribed only during the postmeiotic period of spermatogenesis. The protein encoded by this gene is specific to spermatogenic cells. Copy number variation in this gene may be associated with testicular germ cell tumors. Pseudogenes associated with this gene are reported on chromosomes 2 and X. [provided by RefSeq, Aug 2016]
FST	chr5	53480409	53487134	+	ENSG00000134363.11	protein_coding	FS	5q11.2	follistatin	 Follistatin is a single-chain gonadal protein that specifically inhibits follicle-stimulating hormone release.  The single FST gene encodes two isoforms, FST317 and FST344 containing 317 and 344 amino acids respectively, resulting from alternative splicing of the precursor mRNA.  In a study in which 37 candidate genes were tested for linkage and association with polycystic ovary syndrome (PCOS) or hyperandrogenemia in 150 families, evidence was found for linkage between PCOS and follistatin. [provided by RefSeq, Jul 2008]
FSTL1	chr3	120392293	120451253	-	ENSG00000163430.11	protein_coding	FRP|FSL1|MIR198|OCC-1|OCC1|tsc36	3q13.33	follistatin like 1	This gene encodes a protein with similarity to follistatin, an activin-binding protein. It contains an FS module, a follistatin-like sequence containing 10 conserved cysteine residues. This gene product is thought to be an autoantigen associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008]
FSTL3	chr19	676365	683399	+	ENSG00000070404.9	protein_coding	FLRG|FSRP	19p13.3	follistatin like 3	Follistatin-like 3 is a secreted glycoprotein of the follistatin-module-protein family. It may have a role in leukemogenesis. [provided by RefSeq, Jul 2008]
FSTL4	chr5	133196455	133612564	-	ENSG00000053108.16	protein_coding	-	5q31.1	follistatin like 4	-
FTCD	chr21	46136262	46155567	-	ENSG00000160282.13	protein_coding	LCHC1	21q22.3	formimidoyltransferase cyclodeaminase	The protein encoded by this gene is a bifunctional enzyme that channels 1-carbon units from formiminoglutamate, a metabolite of the histidine degradation pathway, to the folate pool. Mutations in this gene are associated with glutamate formiminotransferase deficiency. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Dec 2009]
FTCDNL1	chr2	199760544	199851173	-	ENSG00000226124.6	protein_coding	FONG	2q33.1	formiminotransferase cyclodeaminase N-terminal like	Broad expression in spleen (RPKM 1.7), thyroid (RPKM 1.3) and 25 other tissues
FTH1	chr11	61959718	61967660	-	ENSG00000167996.15	protein_coding	FHC|FTH|FTHL6|HFE5|PIG15|PLIF	11q12.3	ferritin heavy chain 1	This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
FTH1P1	chr1	37544763	37545294	+	ENSG00000232273.1	processed_pseudogene	FTHL1	1p34.3	ferritin heavy chain 1 pseudogene 1	-
FTH1P12	chr9	15527133	15527683	-	ENSG00000213362.3	processed_pseudogene	FTHL12	9p22.3	ferritin heavy chain 1 pseudogene 12	-
FTH1P16	chr11	77734475	77735026	-	ENSG00000227376.1	processed_pseudogene	FTH2|FTHL16	11q14.1	ferritin heavy chain 1 pseudogene 16	-
FTH1P20	chr2	180872867	180873414	-	ENSG00000226564.1	processed_pseudogene	FTHL20	2q31.3	ferritin heavy chain 1 pseudogene 20	-
FTH1P3	chr2	27392784	27393367	-	ENSG00000213453.3	processed_pseudogene	FTHL3|FTHL3P	2p23.3	ferritin heavy chain 1 pseudogene 3	-
FTH1P5	chr6	50912712	50913256	-	ENSG00000230204.1	processed_pseudogene	FTHL5|FTHP1	6p12.3	ferritin heavy chain 1 pseudogene 5	-
FTL	chr19	48965301	48966878	+	ENSG00000087086.14	protein_coding	LFTD|NBIA3	19q13.33	ferritin light chain	This gene encodes the light subunit of the ferritin protein. Ferritin is the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]
FTLP15	chr7	45997540	45998071	-	ENSG00000233952.1	processed_pseudogene	-	7p12.3	ferritin light chain pseudogene 15	-
FTO	chr16	53701692	54158512	+	ENSG00000140718.20	protein_coding	ALKBH9|BMIQ14|GDFD	16q12.2	FTO alpha-ketoglutarate dependent dioxygenase	This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011]
FTOP1	chr2	42797225	42798712	-	ENSG00000226491.1	processed_pseudogene	-	2p21	FTO pseudogene 1	-
FTSJ3	chr17	63819433	63830012	-	ENSG00000108592.16	protein_coding	EPCS3|SPB1	17q23.3	FtsJ RNA 2'-O-methyltransferase 3	Although the function of this gene is not known, the existence of this gene is supported by mRNA and EST data. A possible function of the encoded protein can be inferred from amino acid sequence similarity to the E.coli FtsJ protein and to a mouse protein possibly involved in embryogenesis. [provided by RefSeq, Jul 2008]
FUBP1	chr1	77944055	77979110	-	ENSG00000162613.16	protein_coding	FBP|FUBP|hDH V	1p31.1	far upstream element binding protein 1	The protein encoded by this gene is a single stranded DNA-binding protein that binds to multiple DNA elements, including the far upstream element (FUSE) located upstream of c-myc. Binding to FUSE occurs on the non-coding strand, and is important to the regulation of c-myc in undifferentiated cells. This protein contains three domains, an amphipathic helix N-terminal domain, a DNA-binding central domain, and a C-terminal transactivation domain that contains three tyrosine-rich motifs. The N-terminal domain is thought to repress the activity of the C-terminal domain. This protein is also thought to bind RNA, and contains 3-5 helicase activity with in vitro activity on both DNA-DNA and RNA-RNA duplexes. Aberrant expression of this gene has been found in malignant tissues, and this gene is important to neural system and lung development. Binding of this protein to viral RNA is thought to play a role in several viral diseases, including hepatitis C and hand, foot and mouth disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
FUBP3	chr9	130578965	130638352	+	ENSG00000107164.15	protein_coding	FBP3	9q34.11-q34.12	far upstream element binding protein 3	Ubiquitous expression in thyroid (RPKM 15.5), brain (RPKM 11.3) and 25 other tissues
FUCA1	chr1	23845077	23868294	-	ENSG00000179163.11	protein_coding	FUCA	1p36.11	alpha-L-fucosidase 1	The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2.[provided by RefSeq, Oct 2009]
FUCA1P1	chr2	176804987	176806337	-	ENSG00000237053.1	processed_pseudogene	FUCA1P	2q31.1	alpha-L-fucosidase 1 pseudogene 1	-
FUCA2	chr6	143494811	143511690	-	ENSG00000001036.13	protein_coding	dJ20N2.5	6q24.2	alpha-L-fucosidase 2	This gene encodes a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. This enzyme is essential for Helicobacter pylori adhesion to human gastric cancer cells. [provided by RefSeq, Aug 2010]
FUOM	chr10	133355154	133358035	-	ENSG00000148803.11	protein_coding	C10orf125|FUCU|FucM	10q26.3	fucose mutarotase	Broad expression in liver (RPKM 9.1), duodenum (RPKM 5.8) and 21 other tissues
FURIN	chr15	90868592	90883458	+	ENSG00000140564.11	protein_coding	FUR|PACE|PCSK3|SPC1	15q26.1	furin, paired basic amino acid cleaving enzyme	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. Like other members of this convertase family, the product of this gene specifically cleaves substrates at single or paired basic residues. Some of its substrates include proparathyroid hormone, transforming growth factor beta 1 precursor, proalbumin, pro-beta-secretase, membrane type-1 matrix metalloproteinase, beta subunit of pro-nerve growth factor and von Willebrand factor. It is thought to be one of the proteases responsible for the activation of HIV envelope glycoproteins gp160 and gp140, and may play a role in tumor progression. Unlike SARS-CoV and other coronaviruses, the spike protein of SARS-CoV-2 is thought to be uniquely cleaved by this protease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020]
FUS	chr16	31180110	31194871	+	ENSG00000089280.18	protein_coding	ALS6|ETM4|FUS1|HNRNPP2|POMP75|TLS|altFUS	16p11.2	FUS RNA binding protein	This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm. This protein belongs to the FET family of RNA-binding proteins which have been implicated in cellular processes that include regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. Alternative splicing results in multiple transcript variants. Defects in this gene result in amyotrophic lateral sclerosis type 6. [provided by RefSeq, Sep 2009]
FUT1	chr19	48748011	48755390	-	ENSG00000174951.10	protein_coding	H|HH|HSC	19q13.33	fucosyltransferase 1 (H blood group)	This gene encodes a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the synthesis of soluble A and B antigens. This is one of two genes encoding the galactoside 2-L-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group. [provided by RefSeq, Aug 2016]
FUT10	chr8	33370824	33473422	-	ENSG00000172728.15	protein_coding	FUCTX	8p12	fucosyltransferase 10	Ubiquitous expression in ovary (RPKM 2.0), placenta (RPKM 1.5) and 25 other tissues
FUT11	chr10	73772291	73780251	+	ENSG00000196968.10	protein_coding	FUCTXI	10q22.2	fucosyltransferase 11	Ubiquitous expression in placenta (RPKM 8.2), lung (RPKM 6.0) and 24 other tissues
FUT2	chr19	48695971	48705950	+	ENSG00000176920.11	protein_coding	B12QTL1|SE|SEC2|Se2|sej	19q13.33	fucosyltransferase 2	The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the soluble A and B antigen synthesis pathway. This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
FUT3	chr19	5842888	5851474	-	ENSG00000171124.12	protein_coding	CD174|FT3B|FucT-III|LE|Les	19p13.3	fucosyltransferase 3 (Lewis blood group)	The Lewis histo-blood group system comprises a set of fucosylated glycosphingolipids that are synthesized by exocrine epithelial cells and circulate in body fluids. The glycosphingolipids function in embryogenesis, tissue differentiation, tumor metastasis, inflammation, and bacterial adhesion. They are secondarily absorbed to red blood cells giving rise to their Lewis phenotype. This gene is a member of the fucosyltransferase family, which catalyzes the addition of fucose to precursor polysaccharides in the last step of Lewis antigen biosynthesis. It encodes an enzyme with alpha(1,3)-fucosyltransferase and alpha(1,4)-fucosyltransferase activities. Mutations in this gene are responsible for the majority of Lewis antigen-negative phenotypes. Differences in the expression of this gene are associated with host susceptibility to viral infection. [provided by RefSeq, Aug 2020]
FUT6	chr19	5830610	5839731	-	ENSG00000156413.13	protein_coding	FCT3A|FT1A|Fuc-TVI|FucT-VI	19p13.3	fucosyltransferase 6	The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X, an E-selectin ligand. Mutations in this gene are a cause of fucosyltransferase-6 deficiency. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
FUT7	chr9	137030174	137033010	-	ENSG00000180549.7	protein_coding	FucT-VII	9q34.3	fucosyltransferase 7	The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X antigens. The encoded protein can direct the synthesis of the E-selectin-binding sialyl-Lewis X moiety. [provided by RefSeq, Jul 2008]
FUT8	chr14	65410592	65744121	+	ENSG00000033170.16	protein_coding	CDGF|CDGF1	14q23.3	fucosyltransferase 8	This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer cells and to their invasive and metastatic capabilities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
FUT9	chr6	96015984	96215612	+	ENSG00000172461.10	protein_coding	Fuc-TIX	6q16.1	fucosyltransferase 9	The protein encoded by this gene belongs to the glycosyltransferase family. It is localized to the golgi, and catalyzes the last step in the biosynthesis of Lewis X (LeX) antigen, the addition of a fucose to precursor polysaccharides. This protein is one of the few fucosyltransferases that synthesizes the LeX oligosaccharide (CD15) expressed in the organ buds progressing in mesenchyma during embryogenesis. It is also responsible for the expression of CD15 in mature granulocytes. A common haplotype of this gene has also been associated with susceptibility to placental malaria infection. [provided by RefSeq, Nov 2011]
FUZ	chr19	49806869	49817376	-	ENSG00000010361.13	protein_coding	CPLANE3|FY|NTD	19q13.33	fuzzy planar cell polarity protein	This gene encodes a planar cell polarity protein that is involved in ciliogenesis and directional cell movement. Knockout studies in mice exhibit neural tube defects and defective cilia, and mutations in this gene are associated with neural tube defects in humans. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]
FXN	chr9	69035259	69100178	+	ENSG00000165060.11	protein_coding	CyaY|FA|FARR|FRDA|X25	9q21.11	frataxin	This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
FXR1	chr3	180868141	180982753	+	ENSG00000114416.17	protein_coding	FXR1P|MYOPMIL|MYORIBF	3q26.33	FMR1 autosomal homolog 1	The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
FXR2	chr17	7591230	7614871	-	ENSG00000129245.11	protein_coding	FMR1L2|FXR2P	17p13.1	FMR1 autosomal homolog 2	The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X cognitive disability syndrome. [provided by RefSeq, Jul 2008]
FXYD1	chr19	35138808	35143109	+	ENSG00000266964.5	protein_coding	PLM	19q13.12	FXYD domain containing ion transport regulator 1	This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. The protein encoded by this gene is a plasma membrane substrate for several kinases, including protein kinase A, protein kinase C, NIMA kinase, and myotonic dystrophy kinase. It is thought to form an ion channel or regulate ion channel activity. Transcript variants with different 5 UTR sequences have been described in the literature. [provided by RefSeq, Jul 2008]
FXYD2	chr11	117800844	117828698	-	ENSG00000137731.13	protein_coding	ATP1G1|HOMG2	11q23.3	FXYD domain containing ion transport regulator 2	This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes the sodium/potassium-transporting ATPase subunit gamma. Mutations in this gene have been associated with Renal Hypomagnesemia-2. Alternatively spliced transcript variants have been described. Read-through transcripts have been observed between this locus and the upstream FXYD domain-containing ion transport regulator 6 (FXYD6, GeneID 53826) locus.[provided by RefSeq, Feb 2011]
FXYD4	chr10	43371642	43376335	+	ENSG00000150201.14	protein_coding	CHIF	10q11.21	FXYD domain containing ion transport regulator 4	This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. FXYD4, originally named CHIF for channel-inducing factor, has been shown to modulate the properties of the Na,K-ATPase, as has FXYD2, also known as the gamma subunit of the Na,K-ATPase, and FXYD7. Transmembrane topology has been established for FXYD4 and two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. Alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, May 2010]
FXYD5	chr19	35154730	35169883	+	ENSG00000089327.14	protein_coding	DYSAD|HSPC113|IWU1|KCT1|OIT2|PRO6241|RIC	19q13.12	FXYD domain containing ion transport regulator 5	This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. Mouse FXYD5 has been termed RIC (Related to Ion Channel). FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. This gene product, FXYD5, is a glycoprotein that functions in the up-regulation of chemokine production, and it is involved in the reduction of cell adhesion via its ability to down-regulate E-cadherin. It also promotes metastasis, and has been linked to a variety of cancers. Alternative splicing results in multiple transcript variants. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Sep 2009]
FXYD6	chr11	117836976	117877486	-	ENSG00000137726.16	protein_coding	-	11q23.3	FXYD domain containing ion transport regulator 6	Broad expression in brain (RPKM 186.7), ovary (RPKM 91.7) and 16 other tissues
FXYD7	chr19	35143250	35154301	+	ENSG00000221946.7	protein_coding	-	19q13.12	FXYD domain containing ion transport regulator 7	Biased expression in brain (RPKM 25.1) and spleen (RPKM 0.7)
FYB1	chr5	 39105252	39274528	-	ENSG00000082074	protein-coding	ADAP|FYB|PRO0823|SLAP-130|SLAP130|THC3	5p13.1	FYN binding protein 1	The protein encoded by this gene is an adapter for the FYN protein and LCP2 signaling cascades in T-cells. The encoded protein is involved in platelet activation and controls the expression of interleukin-2. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
FYCO1	chr3	45917899	45995824	-	ENSG00000163820.14	protein_coding	CATC2|CTRCT18|RUFY3|ZFYVE7	3p21.31	FYVE and coiled-coil domain autophagy adaptor 1	The gene encodes a Rab7 adapter protein that is implicated in the microtubule transport of autophagosomes. The encoded protein contains a RUN domain, a FYVE-type zinc finger domain, and Golgi dynamics (GOLD) domain. The encoded protein plays a role in microtubule plus end-directed transport of autophagic vesicles through interactions with the small GTPase Rab7, phosphatidylinositol-3-phosphate (PI3P), the autophagosome marker LC3, and the kinesin KIF5. Mutations in this gene are associated with inclusion body myositis (IBM) and autosomal recessive congenital cataracts (CATC2). [provided by RefSeq, Aug 2020]
FYN	chr6	111660332	111873452	-	ENSG00000010810.17	protein_coding	SLK|SYN|p59-FYN	6q21	FYN proto-oncogene, Src family tyrosine kinase	This gene is a member of the protein-tyrosine kinase oncogene family. It encodes a membrane-associated tyrosine kinase that has been implicated in the control of cell growth. The protein associates with the p85 subunit of phosphatidylinositol 3-kinase and interacts with the fyn-binding protein. Alternatively spliced transcript variants encoding distinct isoforms exist. [provided by RefSeq, Jul 2008]
FZD1	chr7	91264364	91271326	+	ENSG00000157240.3	protein_coding	-	7q21.13	frizzled class receptor 1	-
FZD10	chr12	130162459	130165740	+	ENSG00000111432.4	protein_coding	CD350|FZ-10|Fz10|FzE7|hFz10	12q24.33	frizzled class receptor 10	This gene is a member of the frizzled gene family. Members of this family encode 7-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. Using array analysis, expression of this intronless gene is significantly up-regulated in two cases of primary colon cancer. [provided by RefSeq, Jul 2008]
FZD2	chr17	44557459	44559570	+	ENSG00000180340.6	protein_coding	Fz2|OMOD2|fz-2|fzE2|hFz2	17q21.31	frizzled class receptor 2	This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. This gene encodes a protein that is coupled to the beta-catenin canonical signaling pathway. Competition between the wingless-type MMTV integration site family, member 3A and wingless-type MMTV integration site family, member 5A gene products for binding of this protein is thought to regulate the beta-catenin-dependent and -independent pathways. [provided by RefSeq, Dec 2010]
FZD4	chr11	86945679	86955391	-	ENSG00000174804.3	protein_coding	CD344|EVR1|FEVR|FZD4S|Fz-4|Fz4|FzE4|GPCR|hFz4	11q14.2	frizzled class receptor 4	This gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the Wingless type MMTV integration site family of signaling proteins. Most frizzled receptors are coupled to the beta-catenin canonical signaling pathway. This protein may play a role as a positive regulator of the Wingless type MMTV integration site signaling pathway. A transcript variant retaining intronic sequence and encoding a shorter isoform has been described, however, its expression is not supported by other experimental evidence. [provided by RefSeq, Jul 2008]
FZD5	chr2	207762586	207769563	-	ENSG00000163251.3	protein_coding	C2orf31|HFZ5	2q33.3	frizzled class receptor 5	 Members of the frizzled gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins.  The FZD5 protein is believed to be the receptor for the Wnt5A ligand. [provided by RefSeq, Jul 2008]
FZD7	chr2	202034587	202038445	+	ENSG00000155760.2	protein_coding	FzE3	2q33.1	frizzled class receptor 7	 Members of the frizzled gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins.  The FZD7 protein contains an N-terminal signal sequence, 10 cysteine residues typical of the cysteine-rich extracellular domain of Fz family members, 7 putative transmembrane domains, and an intracellular C-terminal tail with a PDZ domain-binding motif.  FZD7 gene expression may downregulate APC function and enhance beta-catenin-mediated signals in poorly differentiated human esophageal carcinomas. [provided by RefSeq, Jul 2008]
FZD9	chr7	73433783	73436120	+	ENSG00000188763.4	protein_coding	CD349|FZD3	7q11.23	frizzled class receptor 9	 Members of the frizzled gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins.  The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZD9 gene may contribute to the Williams syndrome phenotype.  FZD9 is expressed predominantly in brain, testis, eye, skeletal muscle, and kidney. [provided by RefSeq, Jul 2008]
FZR1	chr19	3506273	3538330	+	ENSG00000105325.13	protein_coding	CDC20C|CDH1|FZR|FZR2|HCDH|HCDH1	19p13.3	fizzy and cell division cycle 20 related 1	Note: CDH1 (GeneID 999) and FZR1 (GeneID 51343) share the CDH1 symbol. CDH1 is sometimes used as an abbreviation for CDC20 homolog 1 which is an alternate name for the FZR1 gene and thus can be confused with the official symbol for cadherin 1 (CDH1). [16 Jul 2018]
G0S2	chr1	209675420	209676388	+	ENSG00000123689.5	protein_coding	-	1q32.2	G0/G1 switch 2	-
G2E3	chr14	30559123	30620063	+	ENSG00000092140.14	protein_coding	KIAA1333|PHF7B	14q12	G2/M-phase specific E3 ubiquitin protein ligase	Broad expression in testis (RPKM 10.5), lymph node (RPKM 4.4) and 24 other tissues
G3BP1	chr5	151771045	151812785	+	ENSG00000145907.14	protein_coding	G3BP|HDH-VIII	5q33.1	G3BP stress granule assembly factor 1	This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
G3BP2	chr4	75642782	75724525	-	ENSG00000138757.14	protein_coding	-	4q21.1	G3BP stress granule assembly factor 2	-
G6PC1	chr17	 42900799	42914438	+	ENSG00000131482	protein-coding	G6PC|G6PT|G6Pase|GSD1|GSD1a	17q21.31	glucose-6-phosphatase catalytic subunit 1	-
G6PC2	chr2	168901240	168910000	+	ENSG00000152254.10	protein_coding	IGRP	2q31.1	glucose-6-phosphatase catalytic subunit 2	This gene encodes an enzyme belonging to the glucose-6-phosphatase catalytic subunit family. These enzymes are part of a multicomponent integral membrane system that catalyzes the hydrolysis of glucose-6-phosphate, the terminal step in gluconeogenic and glycogenolytic pathways, allowing the release of glucose into the bloodstream. The family member encoded by this gene is found in pancreatic islets and does not exhibit phosphohydrolase activity, but it is a major target of cell-mediated autoimmunity in diabetes. Several alternatively spliced transcript variants of this gene have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
G6PC3	chr17	44070735	44076344	+	ENSG00000141349.8	protein_coding	SCN4|UGRP	17q21.31	glucose-6-phosphatase catalytic subunit 3	This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosphate in the last step of the gluconeogenic and glycogenolytic pathways. Mutations in this gene result in autosomal recessive severe congenital neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
GAA	chr17	80101556	80119879	+	ENSG00000171298.12	protein_coding	LYAG	17q25.3	alpha glucosidase	This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompes disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
GAB1	chr4	143336762	143474568	+	ENSG00000109458.8	protein_coding	DFNB26	4q31.21	GRB2 associated binding protein 1	The protein encoded by this gene is a member of the IRS1-like multisubstrate docking protein family. It is an important mediator of branching tubulogenesis and plays a central role in cellular growth response, transformation and apoptosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
GAB2	chr11	78215297	78418348	-	ENSG00000033327.12	protein_coding	-	11q14.1	GRB2 associated binding protein 2	Ubiquitous expression in brain (RPKM 13.2), bone marrow (RPKM 11.6) and 25 other tissues
GABARAP	chr17	7240014	7242770	-	ENSG00000170296.9	protein_coding	ATG8A|GABARAP-a|MM46	17p13.1	GABA type A receptor-associated protein	Gamma-aminobutyric acid A receptors [GABA(A) receptors] are ligand-gated chloride channels that mediate inhibitory neurotransmission. This gene encodes GABA(A) receptor-associated protein, which is highly positively charged in its N-terminus and shares sequence similarity with light chain-3 of microtubule-associated proteins 1A and 1B. This protein clusters neurotransmitter receptors by mediating interaction with the cytoskeleton. [provided by RefSeq, Jul 2008]
GABARAPL1	chr12	10212458	10223130	+	ENSG00000139112.10	protein_coding	APG8-LIKE|APG8L|ATG8|ATG8B|ATG8L|GEC1	12p13.2	GABA type A receptor associated protein like 1	Broad expression in brain (RPKM 136.2), kidney (RPKM 101.2) and 23 other tissues
GABARAPL2	chr16	75566351	75577881	+	ENSG00000034713.7	protein_coding	ATG8|ATG8C|GATE-16|GATE16|GEF-2|GEF2	16q23.1	GABA type A receptor associated protein like 2	Ubiquitous expression in brain (RPKM 110.1), heart (RPKM 86.3) and 25 other tissues
GABARAPL3	chr15	90347587	90349437	+	ENSG00000279980.1	TEC	ATG8D	15q26.1	GABA type A receptor associated protein like 3 pseudogene	Predicted to enable GABA receptor binding activity and ubiquitin protein ligase binding activity. Predicted to be involved in autophagosome assembly; autophagy of mitochondrion; and cellular response to nitrogen starvation. Predicted to be located in cytoplasmic vesicle and microtubule. Predicted to be active in autophagosome membrane and cytosol. [provided by Alliance of Genome Resources, Apr 2022]
GABBR1	chr6	29555629	29633976	-	ENSG00000204681.10	protein_coding	GABABR1|GABBR1-3|GB1|GPRC3A	6p22.1	gamma-aminobutyric acid type B receptor subunit 1	This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GABA(B) receptor 2. Defects in this gene may underlie brain disorders such as schizophrenia and epilepsy. Alternative splicing generates multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jan 2016]
GABBR2	chr9	98288082	98709197	-	ENSG00000136928.6	protein_coding	DEE59|EIEE59|GABABR2|GPR51|GPRC3B|HG20|HRIHFB2099|NDPLHS	9q22.33	gamma-aminobutyric acid type B receptor subunit 2	The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the release of neurotransmitters, and the activity of ion channels and adenylyl cyclase. This receptor subunit forms an active heterodimeric complex with GABA-B receptor subunit 1, neither of which is effective on its own. Allelic variants of this gene have been associated with nicotine dependence.[provided by RefSeq, Jan 2010]
GABPB1	chr15	50275392	50355408	-	ENSG00000104064.16	protein_coding	BABPB2|E4TF1|E4TF1-47|E4TF1-53|E4TF1B|GABPB|GABPB-1|GABPB2|NRF2B1|NRF2B2	15q21.2	GA binding protein transcription factor subunit beta 1	This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
GABPB1-AS1	chr15	50354959	50372202	+	ENSG00000244879.6	antisense	-	15q21.2	GABPB1 antisense RNA 1	-
GABPB2	chr1	151070578	151125542	+	ENSG00000143458.11	protein_coding	GABPB-2	1q21.3	GA binding protein transcription factor subunit beta 2	Note: In August, 2008, the nomenclature of the GA binding protein transcription factors was clarified. The gene on Hsa1q was named GABPB2 and the gene on Hsa15q was named GABPB1. [24 Sep 2008]
GABRA2	chr4	46248427	46475230	-	ENSG00000151834.15	protein_coding	DEE78|EIEE78	4p12	gamma-aminobutyric acid type A receptor subunit alpha2	GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
GABRD	chr1	2019298	2030758	+	ENSG00000187730.8	protein_coding	EIG10|EJM7|GEFSP5	1p36.33	gamma-aminobutyric acid type A receptor subunit delta	Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
GABRG1	chr4	46035769	46124081	-	ENSG00000163285.7	protein_coding	-	4p12	gamma-aminobutyric acid type A receptor subunit gamma1	Restricted expression toward brain (RPKM 11.0)
GABRG3	chr15	26971282	27541991	+	ENSG00000182256.12	protein_coding	-	15q12	gamma-aminobutyric acid type A receptor subunit gamma3	Low expression observed in reference dataset
GABRR2	chr6	89257208	89315299	-	ENSG00000111886.10	protein_coding	-	6q15	gamma-aminobutyric acid type A receptor subunit rho2	Low expression observed in reference dataset
GAD1	chr2	170813213	170861151	+	ENSG00000128683.13	protein_coding	CPSQ1|DEE89|GAD|SCP	2q31.1	glutamate decarboxylase 1	This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form. [provided by RefSeq, Jul 2008]
GADD45A	chr1	67685061	67688338	+	ENSG00000116717.11	protein_coding	DDIT1|GADD45	1p31.3	growth arrest and DNA damage inducible alpha	This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Dec 2010]
GADD45B	chr19	2476122	2478259	+	ENSG00000099860.8	protein_coding	GADD45BETA|MYD118	19p13.3	growth arrest and DNA damage inducible beta	This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway.  This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth. [provided by RefSeq, Jul 2008]
GADD45G	chr9	89605013	89606555	+	ENSG00000130222.10	protein_coding	CR6|DDIT2|GADD45gamma|GRP17	9q22.2	growth arrest and DNA damage inducible gamma	This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The GADD45G is highly expressed in placenta. [provided by RefSeq, Jul 2008]
GADD45GIP1	chr19	12953119	12957236	-	ENSG00000179271.2	protein_coding	CKBBP2|CKbetaBP2|CRIF1|MRP-L59|PLINP|PLINP-1|PRG6|Plinp1	19p13.13	GADD45G interacting protein 1	This gene encodes a nuclear-localized protein that may be induced by p53 and regulates the cell cycle by inhibiting G1 to S phase progression. The encoded protein may interact with other cell cycle regulators. [provided by RefSeq, Aug 2012]
GADL1	chr3	30726200	30894765	-	ENSG00000144644.14	protein_coding	ADC|CSADC|HuADC|HuCSADC	3p24.1-p23	glutamate decarboxylase like 1	Low expression observed in reference dataset
GAK	chr4	849276	932373	-	ENSG00000178950.16	protein_coding	DNAJ26|DNAJC26	4p16.3	cyclin G associated kinase	In all eukaryotes, the cell cycle is governed by cyclin-dependent protein kinases (CDKs), whose activities are regulated by cyclins and CDK inhibitors in a diverse array of mechanisms that involve the control of phosphorylation and dephosphorylation of Ser, Thr or Tyr residues. Cyclins are molecules that possess a consensus domain called the cyclin box. In mammalian cells, 9 cyclin species have been identified, and they are referred to as cyclins A through I. Cyclin G is a direct transcriptional target of the p53 tumor suppressor gene product and thus functions downstream of p53. GAK is an association partner of cyclin G and CDK5. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
GAL	chr11	68683779	68691175	+	ENSG00000069482.6	protein_coding	ETL8|GAL-GMAP|GALN|GLNN|GMAP	11q13.2	galanin and GMAP prepropeptide	This gene encodes a neuroendocrine peptide that is widely expressed in the central and peripheral nervous systems and also the gastrointestinal tract, pancreas, adrenal gland and urogenital tract. The encoded protein is a precursor that is proteolytically processed to generate two mature peptides: galanin and galanin message-associated peptide (GMAP). Galanin has diverse physiological functions including nociception, feeding and energy homeostasis, osmotic regulation and water balance. GMAP has been demonstrated to possess antifungal activity and hypothesized to be part of the innate immune system. [provided by RefSeq, Jul 2015]
GAL3ST1	chr22	30554635	30574587	-	ENSG00000128242.12	protein_coding	CST	22q12.2	galactose-3-O-sulfotransferase 1	Sulfonation, an important step in the metabolism of many drugs, xenobiotics, hormones, and neurotransmitters, is catalyzed by sulfotransferases. This gene encodes galactosylceramide sulfotransferase, which catalyzes the sulfation of membrane glycolipids including the final step in the synthesis of sulfatide, a major lipid component of the myelin sheath. This gene exhibits elevated expression in ovarian epithelial carcinoma and the encoded enzyme exhibits elevated activity in renal cell carcinoma. Mutations in this gene may be associated with reduced insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
GAL3ST2	chr2	241776825	241804208	+	ENSG00000154252.11	protein_coding	GAL3ST-2|GP3ST	2q37.3	galactose-3-O-sulfotransferase 2	This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the hydroxyl at C-3 of nonreducing beta-galactosyl residues, and it can act on both type 1 and type 2 (Galbeta 1-3/1-4GlcNAc-R) oligosaccharides with similar efficiencies, and on core 1 glycans. This enzyme has been implicated in tumor metastasis processes. This gene is different from the GAL3ST3 gene located on chromosome 11, which has also been referred to as GAL3ST2 and encodes a related enzyme with distinct tissue distribution and substrate specificities, compared to galactose-3-O-sulfotransferase 2. [provided by RefSeq, Jul 2008]
GAL3ST3	chr11	66041952	66049180	-	ENSG00000175229.6	protein_coding	GAL3ST-3|GAL3ST2	11q13.1	galactose-3-O-sulfotransferase 3	This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the 3 position of galactose in N-acetyllactosamine in both type 2 (Gal-beta-1-4GlcNAc-R) oligosaccharides and core-2-branched O-glycans, but not on type 1 or core-1-branched structures. This gene, which has also been referred to as GAL3ST2, is different from the GAL3ST2 gene located on chromosome 2 that encodes a related enzyme with distinct tissue distribution and substrate specificities, compared to galactose-3-O-sulfotransferase 3. [provided by RefSeq, Jul 2008]
GAL3ST4	chr7	100159244	100168750	-	ENSG00000197093.10	protein_coding	GAL3ST-4	7q22.1	galactose-3-O-sulfotransferase 4	This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate to the C-3 position of galactose residues in O-linked glycoproteins. This enzyme is highly specific for core 1 structures, with asialofetuin, Gal-beta-1,3-GalNAc and Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc being good substrates. [provided by RefSeq, Jul 2008]
GALC	chr14	87837820	87993665	-	ENSG00000054983.16	protein_coding	-	14q31.3	galactosylceramidase	Ubiquitous expression in small intestine (RPKM 14.9), duodenum (RPKM 14.2) and 25 other tissues
GALE	chr1	23795599	23800804	-	ENSG00000117308.14	protein_coding	SDR1E1	1p36.11	UDP-galactose-4-epimerase	This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and cognitive disability, with symptoms ranging from mild (peripheral form) to severe (generalized form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
GALK1	chr17	75751594	75765711	-	ENSG00000108479.11	protein_coding	GALK|GK1|HEL-S-19	17q25.1	galactokinase 1	Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008]
GALK2	chr15	49155656	49367869	+	ENSG00000156958.14	protein_coding	GK2	15q21.1-q21.2	galactokinase 2	This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. The encoded protein is a member of the GHMP kinase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]
GALM	chr2	38665910	38741237	+	ENSG00000143891.16	protein_coding	BLOCK25|GALAC4|GLAT|HEL-S-63p|IBD1	2p22.1	galactose mutarotase	This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009]
GALNS	chr16	88813734	88856970	-	ENSG00000141012.12	protein_coding	GALNAC6S|GAS|GalN6S|MPS4A	16q24.3	galactosamine (N-acetyl)-6-sulfatase	This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]
GALNT1	chr18	35581117	35711834	+	ENSG00000141429.13	protein_coding	GALNAC-T1	18q12.2	polypeptide N-acetylgalactosaminyltransferase 1	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]
GALNT10	chr5	154190730	154420984	+	ENSG00000164574.15	protein_coding	GALNACT10|PPGALNACT10|PPGANTASE10	5q33.2	polypeptide N-acetylgalactosaminyltransferase 10	This gene encodes a member of the GalNAc polypeptide N-acetylgalactosaminyltransferases. These enzymes catalyze the first step in the synthesis of mucin-type oligosaccharides. These proteins transfer GalNAc from UDP-GalNAc to either serine or threonine residues of polypeptide acceptors. The protein encoded by this locus may have increased catalytic activity toward glycosylated peptides compared to activity toward non-glycosylated peptides.[provided by RefSeq, Apr 2010]
GALNT12	chr9	98807699	98850081	+	ENSG00000119514.6	protein_coding	CRCS1|GalNAc-T12	9q22.33	polypeptide N-acetylgalactosaminyltransferase 12	This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal cancer.[provided by RefSeq, Mar 2011]
GALNT14	chr2	30910467	31155202	-	ENSG00000158089.14	protein_coding	GALNT15|GalNac-T10|GalNac-T14	2p23.1	polypeptide N-acetylgalactosaminyltransferase 14	This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Alterations in this gene may play a role in cancer progression and response to chemotherapy. [provided by RefSeq, Jun 2016]
GALNT16	chr14	69259277	69357033	+	ENSG00000100626.16	protein_coding	GALNACT16|GALNTL1|GalNAc-T16	14q24.1	polypeptide N-acetylgalactosaminyltransferase 16	Broad expression in brain (RPKM 7.7), heart (RPKM 6.0) and 21 other tissues
GALNT17	chr7	 71132144	71713599	+	ENSG00000185274	protein-coding	GALNACT17|GALNT16|GALNT20|GALNTL3|GalNAc-T17|GalNAc-T19|GalNAc-T5L|WBSCR17	7q11.22	polypeptide N-acetylgalactosaminyltransferase 17	This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]
GALNT18	chr11	11270876	11622005	-	ENSG00000110328.5	protein_coding	GALNACT18|GALNT15|GALNTL4|GalNAc-T15|GalNAc-T18	11p15.4	polypeptide N-acetylgalactosaminyltransferase 18	Broad expression in thyroid (RPKM 3.7), lung (RPKM 3.5) and 24 other tissues
GALNT2	chr1	230057990	230282124	+	ENSG00000143641.9	protein_coding	CDG2T|GalNAc-T2	1q42.13	polypeptide N-acetylgalactosaminyltransferase 2	This gene encodes a member of the glycosyltransferase 2 protein family. Members of this family initiate mucin-type O-glycoslation of peptides in the Golgi apparatus. The encoded protein may be involved in O-linked glycosylation of the immunoglobulin A1 hinge region. This gene may influence triglyceride levels, and may be involved Type 2 diabetes, as well as several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
GALNT3	chr2	165747591	165794682	-	ENSG00000115339.13	protein_coding	GalNAc-T3|HFTC|HFTC1|HHS	2q24.3	polypeptide N-acetylgalactosaminyltransferase 3	This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases.  The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]
GALNT4	chr12	89519408	89524806	-	ENSG00000257594.3	protein_coding	GALNAC-T4|GALNACT4	12q21.33	polypeptide N-acetylgalactosaminyltransferase 4	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. In vitro, the encoded protein can complement other GalNAc-Ts in the complete O-glycosylation of the mucin-1 tandem repeat and can O-glycosylate the P-selectin glycoprotein ligand-1 molecule. The coding region of this gene is contained within a single exon. Fusion transcripts, which combine part of this gene with the 5 exons of the neighboring POC1B (POC1 centriolar protein homolog B) gene, also exist. [provided by RefSeq, Dec 2010]
GALNT5	chr2	157257598	157314211	+	ENSG00000136542.8	protein_coding	GALNAC-T5|GALNACT5	2q24.1	polypeptide N-acetylgalactosaminyltransferase 5	The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016]
GALNT6	chr12	51351247	51392867	-	ENSG00000139629.15	protein_coding	GALNAC-T6|GalNAcT6	12q13.13	polypeptide N-acetylgalactosaminyltransferase 6	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. The encoded protein is capable of glycosylating fibronectin peptide in vitro and is expressed in a fibroblast cell line, indicating that it may be involved in the synthesis of oncofetal fibronectin. [provided by RefSeq, Jul 2008]
GALNT7	chr4	173168753	173323967	+	ENSG00000109586.11	protein_coding	GALNAC-T7|GalNAcT7	4q34.1	polypeptide N-acetylgalactosaminyltransferase 7	This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. [provided by RefSeq, Jul 2008]
GALNT8	chr12	4720341	4851927	+	ENSG00000130035.6	protein_coding	GALNAC-T8	12p13.32	polypeptide N-acetylgalactosaminyltransferase 8	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. [provided by RefSeq, Jul 2008]
GALNT9	chr12	132196372	132329349	-	ENSG00000182870.12	protein_coding	GALNAC-T9|GALNACT9	12q24.33	polypeptide N-acetylgalactosaminyltransferase 9	This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GALP	chr19	56176020	56185775	+	ENSG00000197487.8	protein_coding	-	19q13.43	galanin like peptide	Low expression observed in reference dataset
GALR2	chr17	76074794	76077541	+	ENSG00000182687.3	protein_coding	GAL2-R|GALNR2|GALR-2	17q25.1	galanin receptor 2	Galanin is an important neuromodulator present in the brain, gastrointestinal system, and hypothalamopituitary axis. It is a 30-amino acid non-C-terminally amidated peptide that potently stimulates growth hormone secretion, inhibits cardiac vagal slowing of heart rate, abolishes sinus arrhythmia, and inhibits postprandial gastrointestinal motility. The actions of galanin are mediated through interaction with specific membrane receptors that are members of the 7-transmembrane family of G protein-coupled receptors. GALR2 interacts with the N-terminal residues of the galanin peptide. The primary signaling mechanism for GALR2 is through the phospholipase C/protein kinase C pathway (via Gq), in contrast to GALR1, which communicates its intracellular signal by inhibition of adenylyl cyclase through Gi. However, it has been demonstrated that GALR2 couples efficiently to both the Gq and Gi proteins to simultaneously activate 2 independent signal transduction pathways. [provided by RefSeq, Jul 2008]
GALR3	chr22	37823382	37825495	+	ENSG00000128310.2	protein_coding	-	22q13.1	galanin receptor 3	Low expression observed in reference dataset
GALT	chr9	34638133	34651035	+	ENSG00000213930.11	protein_coding	-	9p13.3	galactose-1-phosphate uridylyltransferase	Ubiquitous expression in duodenum (RPKM 23.8), liver (RPKM 21.4) and 25 other tissues
GAMT	chr19	1397026	1401570	-	ENSG00000130005.12	protein_coding	CCDS2|HEL-S-20|PIG2|TP53I2	19p13.3	guanidinoacetate N-methyltransferase	The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012]
GAN	chr16	81314952	81390884	+	ENSG00000261609.5	protein_coding	GAN1|GIG|KLHL16	16q23.2	gigaxonin	This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008]
GANAB	chr11	62624826	62646726	-	ENSG00000089597.16	protein_coding	G2AN|GIIA|GLUII|PKD3	11q12.3	glucosidase II alpha subunit	This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease. [provided by RefSeq, Jul 2016]
GANC	chr15	42273233	42356935	+	ENSG00000214013.9	protein_coding	-	15q15.1	glucosidase alpha, neutral C	Ubiquitous expression in lung (RPKM 6.2), testis (RPKM 3.4) and 25 other tissues
GAP43	chr3	115623324	115721490	+	ENSG00000172020.12	protein_coding	B-50|GAP-43|PP46	3q13.31	growth associated protein 43	The protein encoded by this gene has been termed a growth or plasticity protein because it is expressed at high levels in neuronal growth cones during development and axonal regeneration. This protein is considered a crucial component of an effective regenerative response in the nervous system. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GAPDHP14	chr21	29222321	29223257	+	ENSG00000236056.1	processed_pseudogene	GAPDP14	21q21.3	glyceraldehyde-3-phosphate dehydrogenase pseudogene 14	-
GAPDHP15	chr6	57967687	57968661	-	ENSG00000214563.2	processed_pseudogene	GAPDH-Lp|GAPDP15|b55C20.4	6p11.2	glyceraldehyde-3-phosphate dehydrogenase pseudogene 15	-
GAPDHP22	chr13	99190579	99190991	-	ENSG00000234005.3	processed_pseudogene	-	13q32.3	glyceraldehyde 3 phosphate dehydrogenase pseudogene 22	-
GAPDHP23	chr1	119462029	119463021	-	ENSG00000235595.1	processed_pseudogene	-	1p12	glyceraldehyde 3 phosphate dehydrogenase pseudogene 23	-
GAPDHP27	chr1	119558755	119559774	-	ENSG00000239873.2	processed_pseudogene	-	1p12	glyceraldehyde 3 phosphate dehydrogenase pseudogene 27	-
GAPDHP32	chr1	119533749	119534746	-	ENSG00000226443.3	processed_pseudogene	-	1p12	glyceraldehyde 3 phosphate dehydrogenase pseudogene 32	-
GAPDHP33	chr1	119596167	119597179	-	ENSG00000240244.3	processed_pseudogene	-	1p12	glyceraldehyde 3 phosphate dehydrogenase pseudogene 33	-
GAPDHP35	chr16	28239693	28240668	-	ENSG00000250982.2	processed_pseudogene	-	16p12.1	glyceraldehyde 3 phosphate dehydrogenase pseudogene 35	-
GAPDHP37	chr22	40673484	40674451	-	ENSG00000231907.2	processed_pseudogene	-	22q13.2	glyceraldehyde 3 phosphate dehydrogenase pseudogene 37	-
GAPDHP41	chr6	60719222	60720196	-	ENSG00000277172.1	processed_pseudogene	-	6q11.1	glyceraldehyde 3 phosphate dehydrogenase pseudogene 41	-
GAPDHP46	chr1	92114803	92115796	-	ENSG00000224678.3	processed_pseudogene	-	1p22.1	glyceraldehyde 3 phosphate dehydrogenase pseudogene 46	-
GAPDHP58	chr1	119495836	119496841	-	ENSG00000229570.2	processed_pseudogene	GAPDHL1|GAPDL1	1p12	glyceraldehyde 3 phosphate dehydrogenase pseudogene 58	-
GAPDHP60	chr4	87207092	87208086	+	ENSG00000248180.1	processed_pseudogene	GAPDHL4|GAPDL4	4q22.1	glyceraldehyde-3-phosphate dehydrogenase pseudogene 60	-
GAPDHP61	chr15	64528667	64529671	-	ENSG00000248415.1	processed_pseudogene	GAPDHL6|GAPDL6	15q22.31	glyceraldehyde 3 phosphate dehydrogenase pseudogene 61	-
GAPDHP63	chr6	79953005	79954011	-	ENSG00000218582.2	processed_pseudogene	GAPDHL8|GAPDL8	6q14.1	glyceraldehyde 3 phosphate dehydrogenase pseudogene 63	-
GAPT	chr5	58491435	58497090	+	ENSG00000175857.8	protein_coding	C5orf29	5q11.2	GRB2 binding adaptor protein, transmembrane	Predicted to be involved in B cell homeostasis and B cell proliferation involved in immune response. Located in Golgi apparatus and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
GAPVD1	chr9	125261794	125367207	+	ENSG00000165219.21	protein_coding	GAPEX5|GAPex-5|RAP6	9q33.3	GTPase activating protein and VPS9 domains 1	Ubiquitous expression in testis (RPKM 13.1), thyroid (RPKM 9.8) and 25 other tissues
GAR1	chr4	109815510	109824740	+	ENSG00000109534.16	protein_coding	NOLA1	4q25	GAR1 ribonucleoprotein	This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA2 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The encoded protein of this gene contains two glycine- and arginine-rich domains and is related to Saccharomyces cerevisiae Gar1p. Two splice variants have been found for this gene. [provided by RefSeq, Jul 2008]
GAREM1	chr18	32124877	32470484	-	ENSG00000141441.15	protein_coding	C18orf11|FAM59A|GAREM|Gm944	18q12.1	GRB2 associated regulator of MAPK1 subtype 1	This gene encodes an adaptor protein which functions in the epidermal growth factor (EGF) receptor-mediated signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
GAREM2	chr2	26173091	26189663	+	ENSG00000157833.12	protein_coding	FAM59B|GAREML	2p23.3	GRB2 associated regulator of MAPK1 subtype 2	Broad expression in brain (RPKM 5.7), testis (RPKM 1.0) and 17 other tissues
GARNL3	chr9	127224265	127393660	+	ENSG00000136895.18	protein_coding	bA356B19.1	9q33.3	GTPase activating Rap/RanGAP domain like 3	Ubiquitous expression in brain (RPKM 5.0), heart (RPKM 3.2) and 23 other tissues
GARRE1	chr19	 34254554	34355566	+	ENSG00000166398	protein-coding	KIAA0355	19q13.11	granule associated Rac and RHOG effector 1	-
GART	chr21	33503931	33543491	-	ENSG00000159131.16	protein_coding	AIRS|GARS|GARTF|PAIS|PGFT|PRGS	21q22.11	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activity which is required for de novo purine biosynthesis. This enzyme is highly conserved in vertebrates. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
GAS1	chr9	86944363	86947189	-	ENSG00000180447.6	protein_coding	-	9q21.33	growth arrest specific 1	-
GAS2L1	chr22	29306582	29312785	+	ENSG00000185340.15	protein_coding	GAR22	22q12.2	growth arrest specific 2 like 1	This gene encodes a member of the growth arrest-specific 2 protein family. This protein binds components of the cytoskeleton and may be involved in mediating interactions between microtubules and microfilaments. This protein localizes to the proximal end of mature centrioles and links centrosomes to both microtubules and actin. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 9. [provided by RefSeq, May 2018]
GAS2L1P2	chr9	97075671	97081945	-	ENSG00000228376.3	transcribed_processed_pseudogene	-	9q22.33	growth arrest specific 2 like 1 pseudogene 2	-
GAS2L2	chr17	35744511	35752878	-	ENSG00000270765.5	protein_coding	CILD41|GAR17	17q12	growth arrest specific 2 like 2	The protein encoded by this gene appears to crosslink microtubules and microfilaments and may be part of the cytoskeleton. This gene is mainly expressed in skeletal muscle. [provided by RefSeq, Jul 2011]
GAS5-AS1	chr1	173863248	173863941	+	ENSG00000270084.1	antisense	-	1q25.1	GAS5 antisense RNA 1	-
GAS6	chr13	113820549	113864067	-	ENSG00000183087.14	protein_coding	AXLLG|AXSF	13q34	growth arrest specific 6	This gene encodes a gamma-carboxyglutamic acid (Gla)-containing protein thought to be involved in the stimulation of cell proliferation. This gene is frequently overexpressed in many cancers and has been implicated as an adverse prognostic marker. Elevated protein levels are additionally associated with a variety of disease states, including venous thromboembolic disease, systemic lupus erythematosus, chronic renal failure, and preeclampsia. [provided by RefSeq, Aug 2014]
GAS6-AS1	chr13	113815630	113845744	+	ENSG00000233695.2	antisense	-	13q34	GAS6 antisense RNA 1	-
GAS6-DT	chr13	 113864177	113866832	+	ENSG00000272695	ncRNA	GAS6-AS2	13q34	GAS6 divergent transcript	Broad expression in endometrium (RPKM 2.3), urinary bladder (RPKM 1.8) and 23 other tissues
GAS7	chr17	9910609	10198551	-	ENSG00000007237.18	protein_coding	-	17p13.1	growth arrest specific 7	Broad expression in brain (RPKM 53.9), skin (RPKM 13.3) and 17 other tissues
GAS8	chr16	90019629	90044975	+	ENSG00000141013.16	protein_coding	CILD33|DRC4|GAS11	16q24.3	growth arrest specific 8	This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
GAS8-AS1	chr16	90028908	90029367	-	ENSG00000221819.5	antisense	C16orf3	16q24.3	GAS8 antisense RNA 1	This gene encodes a long non-coding RNA (lncRNA) that may function as a tumor suppressor. Mutations in this gene have been identified in human papillary thyroid carcinoma (PTC) patients that abrogate the ability of encoded lncRNA to inhibit cancer cell growth. [provided by RefSeq, May 2017]
GASK1A	chr3	 42979311	43057715	+	ENSG00000144649	protein-coding	C3orf41|FAM198A	3p22.1	golgi associated kinase 1A	Note: LOC26172 (GeneID: 26172) was previously annotated as C3orf41, and a chimeric/readthrough mRNA that contained part of this gene, GeneID: 729085 and GeneID: 26172 was associated with the locus. The two genes are now represented by separate entries, LOC26172 (GeneID: 26172) and C3orf41 (GeneID: 729085). [13 Feb 2013]
GASK1B	chr4	 158124474	158173025	-	ENSG00000164125	protein-coding	AD021|AD036|C4orf18|ENED|FAM198B	4q32.1	golgi associated kinase 1B	Broad expression in adrenal (RPKM 128.3), ovary (RPKM 68.9) and 17 other tissues
GAST	chr17	41712326	41715969	+	ENSG00000184502.3	protein_coding	GAS	17q21.2	gastrin	Gastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic factor for gastrointestinal epithelial cells. Gastrin has two biologically active peptide forms, G34 and G17. [provided by RefSeq, Jul 2008]
GATA1	chrX	48786554	48794311	+	ENSG00000102145.13	protein_coding	ERYF1|GATA-1|GF-1|GF1|NF-E1|NFE1|XLANP|XLTDA|XLTT	Xp11.23	GATA binding protein 1	This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]
GATA2	chr3	128479427	128493185	-	ENSG00000179348.11	protein_coding	DCML|IMD21|MONOMAC|NFE1B	3q21.3	GATA binding protein 2	This gene encodes a member of the GATA family of zinc-finger transcription factors that are named for the consensus nucleotide sequence they bind in the promoter regions of target genes. The encoded protein plays an essential role in regulating transcription of genes involved in the development and proliferation of hematopoietic and endocrine cell lineages. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
GATA2-AS1	chr3	128489212	128502348	+	ENSG00000244300.2	antisense	-	3q21.3	GATA2 antisense RNA 1	-
GATA3	chr10	8053604	8075198	+	ENSG00000107485.15	protein_coding	HDR|HDRS	10p14	GATA binding protein 3	This gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA-type zinc fingers and is an important regulator of T-cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia. [provided by RefSeq, Nov 2009]
GATA3-AS1	chr10	8050450	8053484	-	ENSG00000197308.9	lincRNA	-	10p14	GATA3 antisense RNA 1	-
GATA4	chr8	11676959	11760002	+	ENSG00000136574.17	protein_coding	ASD2|TACHD|TOF|VSD1	8p23.1	GATA binding protein 4	This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
GATA5	chr20	62463497	62475970	-	ENSG00000130700.6	protein_coding	CHTD5|GATAS|bB379O24.1	20q13.33	GATA binding protein 5	The protein encoded by this gene is a transcription factor that contains two GATA-type zinc fingers. The encoded protein is known to bind to hepatocyte nuclear factor-1alpha (HNF-1alpha), and this interaction is essential for cooperative activation of the intestinal lactase-phlorizin hydrolase promoter. In other organisms, similar proteins may be involved in the establishment of cardiac smooth muscle cell diversity. [provided by RefSeq, Jul 2008]
GATA6	chr18	22169443	22202528	+	ENSG00000141448.8	protein_coding	-	18q11.2	GATA binding protein 6	Broad expression in stomach (RPKM 24.9), adrenal (RPKM 23.6) and 17 other tissues
GATAD1	chr7	92447453	92458836	+	ENSG00000157259.6	protein_coding	CMD2B|ODAG|RG083M05.2	7q21.2	GATA zinc finger domain containing 1	The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]
GATAD2A	chr19	19385826	19508931	+	ENSG00000167491.17	protein_coding	p66alpha	19p13.11	GATA zinc finger domain containing 2A	Ubiquitous expression in testis (RPKM 18.1), spleen (RPKM 10.8) and 25 other tissues
GATAD2B	chr1	153789030	153923360	-	ENSG00000143614.9	protein_coding	GANDS|MRD18|P66beta|p68	1q21.3	GATA zinc finger domain containing 2B	This gene encodes a zinc finger protein transcriptional repressor. The encoded protein is part of the methyl-CpG-binding protein-1 complex, which represses gene expression by deacetylating methylated nucleosomes. Mutations in this gene are linked to intellectual disability and dysmorphic features associated with cognitive disability. [provided by RefSeq, Jun 2016]
GATB	chr4	151670504	151761023	-	ENSG00000059691.11	protein_coding	COXPD41|HSPC199|PET112|PET112L	4q31.3	glutamyl-tRNA amidotransferase subunit B	Ubiquitous expression in heart (RPKM 11.7), kidney (RPKM 7.9) and 25 other tissues
GATC	chr12	120446438	120463749	+	ENSG00000257218.5	protein_coding	15E1.2|COXPD42	12q24.31	glutamyl-tRNA amidotransferase subunit C	Ubiquitous expression in thyroid (RPKM 15.5), lymph node (RPKM 14.0) and 25 other tissues
GATD1	chr11	 767222	777487	-	ENSG00000177225	protein-coding	PDDC1	11p15.5	glutamine amidotransferase class 1 domain containing 1	Ubiquitous expression in adrenal (RPKM 7.5), brain (RPKM 7.2) and 25 other tissues
GATD3	chr21	 44133683	44145711	+	ENSG00000160221	protein-coding	C21orf33|ES1|GATD3A|GT335|HES1|KNPH|KNPI	21q22.3	glutamine amidotransferase class 1 domain containing 3	-
GATM	chr15	45361124	45402327	-	ENSG00000171766.15	protein_coding	AGAT|AT|CCDS3|FRTS1	15q21.1	glycine amidinotransferase	This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by cognitive disability, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]
GATM-AS1	chr15	45378700	45380123	+	ENSG00000275672.1	antisense	-	-	-	-
GBA	chr1	155234452	155244699	-	ENSG00000177628.15	protein_coding	GBA1|GCB|GLUC	1q22	glucosylceramidase beta	This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
GBA2	chr9	35736866	35749228	-	ENSG00000070610.14	protein_coding	AD035|NLGase|SPG46	9p13.3	glucosylceramidase beta 2	This gene encodes a microsomal beta-glucosidase that catalyzes the hydrolysis of bile acid 3-O-glucosides as endogenous compounds. Studies to determine subcellular localization of this protein in the liver indicated that the enzyme was mainly enriched in the microsomal fraction where it appeared to be confined to the endoplasmic reticulum. This putative transmembrane protein is thought to play a role in carbohydrate transport and metabolism. [provided by RefSeq, Jul 2008]
GBAP1	chr1	155213821	155227422	-	ENSG00000160766.14	transcribed_unprocessed_pseudogene	Beta-GC|GBA|GBAP|GC|GLUC	1q22	glucosylceramidase beta pseudogene 1	Ubiquitous expression in brain (RPKM 11.5), thyroid (RPKM 10.3) and 25 other tissues
GBE1	chr3	81489699	81762161	-	ENSG00000114480.12	protein_coding	APBD|GBE|GSD4	3p12.2	1,4-alpha-glucan branching enzyme 1	The protein encoded by this gene is a glycogen branching enzyme that catalyzes the transfer of alpha-1,4-linked glucosyl units from the outer end of a glycogen chain to an alpha-1,6 position on the same or a neighboring glycogen chain. Branching of the chains is essential to increase the solubility of the glycogen molecule and, consequently, in reducing the osmotic pressure within cells. Highest level of this enzyme are found in liver and muscle. Mutations in this gene are associated with glycogen storage disease IV (also known as Andersens disease). [provided by RefSeq, Jul 2008]
GBF1	chr10	102245532	102382899	+	ENSG00000107862.4	protein_coding	ARF1GEF|CMT2GG	10q24.32	golgi brefeldin A resistant guanine nucleotide exchange factor 1	This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
GBGT1	chr9	133152948	133163945	-	ENSG00000148288.11	protein_coding	A3GALNT|FS|UNQ2513	9q34.2	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group)	This gene encodes a glycosyltransferase that plays a role in the synthesis of Forssman glycolipid (FG), a member of the globoseries glycolipid family. Glycolipids such as FG form attachment sites for the binding of pathogens to cells; expression of this protein may determine host tropism to microorganisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
GBP1	chr1	89052319	89065360	-	ENSG00000117228.9	protein_coding	-	1p22.2	guanylate binding protein 1	Broad expression in appendix (RPKM 60.1), lymph node (RPKM 37.4) and 24 other tissues
GBP2	chr1	89106132	89150456	-	ENSG00000162645.12	protein_coding	-	1p22.2	guanylate binding protein 2	Ubiquitous expression in appendix (RPKM 36.9), urinary bladder (RPKM 31.7) and 24 other tissues
GBP3	chr1	89006666	89022894	-	ENSG00000117226.11	protein_coding	-	1p22.2	guanylate binding protein 3	Broad expression in duodenum (RPKM 41.6), small intestine (RPKM 35.5) and 23 other tissues
GBP4	chr1	89181148	89198932	-	ENSG00000162654.8	protein_coding	Mpa2	1p22.2	guanylate binding protein 4	Guanylate-binding proteins, such as GBP4, are induced by interferon and hydrolyze GTP to both GDP and GMP (Vestal, 2005 [PubMed 16108726]).[supplied by OMIM, Dec 2008]
GBP6	chr1	89364058	89386461	+	ENSG00000183347.14	protein_coding	-	1p22.2	guanylate binding protein family member 6	Restricted expression toward esophagus (RPKM 171.0)
GBP7	chr1	89131751	89176040	-	ENSG00000213512.1	protein_coding	GBP4L	1p22.2	guanylate binding protein 7	Guanylate-binding proteins, such as GBP7, are induced by interferon and hydrolyze GTP to both GDP and GMP (Olszewski et al., 2006 [PubMed 16689661]).[supplied by OMIM, Dec 2008]
GBX1	chr7	151148589	151174745	-	ENSG00000164900.4	protein_coding	Huh-17	7q36.1	gastrulation brain homeobox 1	Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of nervous system development and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within adult walking behavior; neuron differentiation; and proprioception. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
GBX2	chr2	236165236	236168369	-	ENSG00000168505.6	protein_coding	-	2q37.2	gastrulation brain homeobox 2	Low expression observed in reference dataset
GC	chr4	71741693	71804041	-	ENSG00000145321.12	protein_coding	DBP|DBP-maf|DBP/GC|GRD3|Gc-MAF|GcMAF|HEL-S-51|VDB|VDBG|VDBP	4q13.3	GC vitamin D binding protein	The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
GCA	chr2	162318840	162371595	+	ENSG00000115271.10	protein_coding	GCL	2q24.2	grancalcin	This gene encodes a calcium-binding protein that is abundant in neutrophils and macrophages. In the absence of divalent cation, this protein localizes to the cytosolic fraction; with magnesium alone, it partitions with the granule fraction; and in the presence of magnesium and calcium, it associates with both the granule and membrane fractions. Alternative splicing and use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Aug 2016]
GCAT	chr22	37807905	37817176	+	ENSG00000100116.16	protein_coding	KBL	22q13.1	glycine C-acetyltransferase	The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010]
GCC1	chr7	127580618	127593611	-	ENSG00000179562.2	protein_coding	GCC1P|GCC88	7q32.1	GRIP and coiled-coil domain containing 1	The protein encoded by this gene is a peripheral membrane protein. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. It may play a role in the organization of trans-Golgi network subcompartment involved with membrane transport. [provided by RefSeq, Jul 2008]
GCC2	chr2	108448561	108509415	+	ENSG00000135968.20	protein_coding	GCC185|RANBP2L4|REN53	2q12.3	GRIP and coiled-coil domain containing 2	The protein encoded by this gene is a peripheral membrane protein localized to the trans-Golgi network. It is sensitive to brefeldin A. This encoded protein contains a GRIP domain which is thought to be used in targeting. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
GCC2-AS1	chr2	108507515	108534196	-	ENSG00000214184.3	antisense	-	2q12.3	GCC2 antisense RNA 1	-
GCDH	chr19	12891026	12914207	+	ENSG00000105607.12	protein_coding	ACAD5|GCD	19p13.13	glutaryl-CoA dehydrogenase	The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013]
GCFC2	chr2	75652000	75710989	-	ENSG00000005436.13	protein_coding	C2orf3|DNABF|GCF|TCF9	2p12	GC-rich sequence DNA-binding factor 2	The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts and a primer used in the cloning process (see Genbank accession M29204). A positively charged amino terminus present only in the chimera was determined to bind GC-rich DNA, thus mistakenly thought to identify a transcription factor gene. [provided by RefSeq, Jul 2008]
GCGR	chr17	81804132	81814013	+	ENSG00000215644.9	protein_coding	GGR|GL-R|MVAH	17q25.3	glucagon receptor	The protein encoded by this gene is a glucagon receptor that is important in controlling blood glucose levels. Defects in this gene are a cause of non-insulin-dependent diabetes mellitus (NIDDM).[provided by RefSeq, Jan 2010]
GCH1	chr14	54842008	54902852	-	ENSG00000131979.18	protein_coding	DYT14|DYT5|DYT5a|GCH|GTP-CH-1|GTPCH1|HPABH4B	14q22.2	GTP cyclohydrolase 1	This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]
GCHFR	chr15	40764020	40767710	+	ENSG00000137880.5	protein_coding	GFRP|HsT16933|P35	15q15.1	GTP cyclohydrolase I feedback regulator	GTP cyclohydrolase I feedback regulatory protein binds to and mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase I. The regulatory protein, GCHFR, consists of a homodimer. It is postulated that GCHFR may play a role in regulating phenylalanine metabolism in the liver and in the production of biogenic amine neurotransmitters and nitric oxide. [provided by RefSeq, Jul 2008]
GCK	chr7	44144271	44198170	-	ENSG00000106633.15	protein_coding	FGQTL3|GK|GLK|HHF3|HK4|HKIV|HXKP|LGLK|MODY2|PNDM1	7p13	glucokinase	This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. The use of multiple promoters and alternative splicing of this gene result in distinct protein isoforms that exhibit tissue-specific expression in the pancreas and liver. In the pancreas, this enzyme plays a role in glucose-stimulated insulin secretion, while in the liver, this enzyme is important in glucose uptake and conversion to glycogen. Mutations in this gene that alter enzyme activity have been associated with multiple types of diabetes and hyperinsulinemic hypoglycemia. [provided by RefSeq, Aug 2017]
GCKR	chr2	27496842	27523684	+	ENSG00000084734.8	protein_coding	FGQTL5|GKRP	2p23.3	glucokinase regulator	This gene encodes a protein belonging to the GCKR subfamily of the SIS (Sugar ISomerase) family of proteins. The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic islet cells by binding non-covalently to form an inactive complex with the enzyme. This gene is considered a susceptibility gene candidate for a form of maturity-onset diabetes of the young (MODY). [provided by RefSeq, Jul 2008]
GCLC	chr6	53497341	53616970	-	ENSG00000001084.10	protein_coding	GCL|GCS|GLCL|GLCLC	6p12.1	glutamate-cysteine ligase catalytic subunit	Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.[provided by RefSeq, Oct 2010]
GCLM	chr1	93885205	93909456	-	ENSG00000023909.9	protein_coding	GLCLR	1p22.1	glutamate-cysteine ligase modifier subunit	Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase, is the first rate limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. Gamma glutamylcysteine synthetase deficiency has been implicated in some forms of hemolytic anemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
GCM1	chr6	53126964	53148829	-	ENSG00000137270.10	protein_coding	GCMA|hGCMa	6p12.1	glial cells missing transcription factor 1	This gene encodes a DNA-binding protein with a gcm-motif (glial cell missing motif). The encoded protein is a homolog of the Drosophila glial cells missing gene (gcm). This protein binds to the GCM-motif (A/G)CCCGCAT, a novel sequence among known targets of DNA-binding proteins. The N-terminal DNA-binding domain confers the unique DNA-binding activity of this protein. [provided by RefSeq, Jul 2008]
GCN1	chr12	120127203	120194710	-	ENSG00000089154.10	protein_coding	GCN1L|GCN1L1|PRIC295	12q24.23	GCN1 activator of EIF2AK4	Ubiquitous expression in testis (RPKM 14.2), thyroid (RPKM 12.3) and 25 other tissues
GCNT1	chr9	76419850	76507416	+	ENSG00000187210.12	protein_coding	C2GNT|C2GNT-L|C2GNT1|G6NT|NACGT2|NAGCT2	9q21.13	glucosaminyl (N-acetyl) transferase 1	This gene is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. The gene coding this enzyme was originally mapped to 9q21, but was later localized to 9q13. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
GCNT2	chr6	10492223	10629368	+	ENSG00000111846.16	protein_coding	CCAT|CTRCT13|GCNT2C|GCNT5|IGNT|II|NACGT1|NAGCT1|ULG3|bA360O19.2|bA421M1.1	6p24.3-p24.2	glucosaminyl (N-acetyl) transferase 2 (I blood group)	This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
GCNT4	chr5	75025346	75030899	-	ENSG00000176928.5	protein_coding	C2GNT3|LINC01336	5q13.3	glucosaminyl (N-acetyl) transferase 4	-
GCNT7	chr20	56491492	56525925	-	ENSG00000124091.9	protein_coding	C20orf105|dJ1153D9.2|gcnt	20q13.31	glucosaminyl (N-acetyl) transferase family member 7	Annotation category: suggests misassembly
GCOM1	chr15	57591908	57714745	+	ENSG00000137878.16	protein_coding	GRINL1A|Gcom2|MYZAP|MYZAP-POLR2M|gcom	15q21.3	GCOM1, MYZAP-POLR2M combined locus	This locus represents naturally occurring readthrough transcription between the neighboring MYZAP (myocardial zonula adherens protein) and POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) genes on chromosome 15. Alternative splicing results in multiple readthrough transcript variants. Readthrough variants may encode proteins that share sequence identity with the upstream gene product or with both the upstream and downstream gene products. Some readthrough transcript variants are also expected to be candidates for nonsense-mediated decay (NMD). [provided by RefSeq, Oct 2013]
GCSAM	chr3	112120841	112133305	-	ENSG00000174500.12	protein_coding	GCAT2|GCET2|HGAL	3q13.2	germinal center associated signaling and motility	This gene encodes a protein which may function in signal transduction pathways and whose expression is elevated in germinal cell lymphomas. It contains a putative PDZ-interacting domain, an immunoreceptor tyrosine-based activation motif (ITAM), and two putative SH2 binding sites. In B cells, its expression is specifically induced by interleukin-4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
GCSAML	chr1	247507058	247577690	+	ENSG00000169224.12	protein_coding	C1orf150	1q44	germinal center associated signaling and motility like	This gene encodes a protein thought to be a signaling molecule associated with germinal centers, the sites of proliferation and differentiation of mature B lymphocytes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
GCSAML-AS1	chr1	247524679	247526752	-	ENSG00000227135.1	antisense	-	1q44	GCSAML antisense RNA 1	-
GDAP1L1	chr20	44247099	44280917	+	ENSG00000124194.16	protein_coding	dJ881L22.1|dJ995J12.1.1	20q13.12	ganglioside induced differentiation associated protein 1 like 1	The ganglioside GD3 synthase causes cell differentiation with neurite sprouting when transfected into the mouse neuroblastoma cell line Neuro2a. After differentiation, the expression of several genes is upregulated, including one that encodes a protein termed ganglioside-induced differentiation-associated protein 1 (Gdap1). A similar gene was found in humans, and mutations in the human gene are associated with Charcot-Marie-Tooth type 4A disease. The protein encoded by this gene is similar in sequence to the human GDAP1 protein. Several transcript variants encoding different isoforms, as well as a noncoding transcript variant, have been found for this gene. [provided by RefSeq, Feb 2012]
GDAP2	chr1	117863485	117929630	-	ENSG00000196505.10	protein_coding	MACROD3|SCAR27	1p12	ganglioside induced differentiation associated protein 2	Ubiquitous expression in testis (RPKM 1.6), thyroid (RPKM 1.3) and 25 other tissues
GDE1	chr16	19501689	19522145	-	ENSG00000006007.11	protein_coding	363E6.2|MIR16	16p12.3	glycerophosphodiester phosphodiesterase 1	Ubiquitous expression in colon (RPKM 28.1), fat (RPKM 25.8) and 25 other tissues
GDF10	chr10	47300386	47313547	+	ENSG00000266524.2	protein_coding	BIP|BMP-3b|BMP3B	10q11.22	growth differentiation factor 10	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This promotes neural repair after stroke. Additionally, this protein may act as a tumor suppressor and reduced expression of this gene is associated with oral cancer. [provided by RefSeq, Jul 2016]
GDF11	chr12	55743280	55757278	+	ENSG00000135414.9	protein_coding	BMP-11|BMP11|VHO	12q13.2	growth differentiation factor 11	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein plays a role in the development of the nervous and other organ systems, and may regulate aging. [provided by RefSeq, Aug 2016]
GDF15	chr19	18374731	18389176	+	ENSG00000130513.6	protein_coding	GDF-15|MIC-1|MIC1|NAG-1|PDF|PLAB|PTGFB	19p13.11	growth differentiation factor 15	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The protein is expressed in a broad range of cell types, acts as a pleiotropic cytokine and is involved in the stress response program of cells after cellular injury. Increased protein levels are associated with disease states such as tissue hypoxia, inflammation, acute injury and oxidative stress. [provided by RefSeq, Aug 2016]
GDF2	chr10	47322490	47326270	+	ENSG00000263761.2	protein_coding	BMP-9|BMP9|HHT5	10q11.22	growth differentiation factor 2	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates cartilage and bone development, angiogenesis and differentiation of cholinergic central nervous system neurons. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia. [provided by RefSeq, Jul 2016]
GDF5	chr20	35433347	35454746	-	ENSG00000125965.8	protein_coding	BDA1C|BMP-14|BMP14|CDMP1|DUPANS|LAP-4|LAP4|OS5|SYM1B|SYNS2	20q11.22	growth differentiation factor 5	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016]
GDF5-AS1	chr20	 35433029	35434651	+	-	ncRNA	GDF5OS	20q11.22	GDF5 antisense RNA 1	-
GDF7	chr2	20666664	20679245	+	ENSG00000143869.6	protein_coding	BMP12	2p24.1	growth differentiation factor 7	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein may play a role in the differentiation of tendon cells and spinal cord interneurons. A mutation in this gene may be associated with increased risk for Barretts esophagus and esophageal adenocarcinoma. [provided by RefSeq, Sep 2016]
GDF9	chr5	132861181	132866884	-	ENSG00000164404.8	protein_coding	POF14	5q31.1	growth differentiation factor 9	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates ovarian function. Reduced expression of this gene may be associated with polycystic ovary syndrome and mutations in this gene may be more common in mothers of dizygotic twins. [provided by RefSeq, Jul 2016]
GDI2	chr10	5765223	5842132	-	ENSG00000057608.16	protein_coding	HEL-S-46e|RABGDIB	10p15.1	GDP dissociation inhibitor 2	GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI2 is ubiquitously expressed. The GDI2 gene contains many repetitive elements indicating that it may be prone to inversion/deletion rearrangements. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
GDI2P2	chr1	72274552	72275159	+	ENSG00000233994.2	processed_pseudogene	-	1p31.1	GDP dissociation inhibitor 2 pseudogene 2	-
GDNF	chr5	37812677	37839686	-	ENSG00000168621.14	protein_coding	ATF|ATF1|ATF2|HFB1-GDNF|HSCR3	5p13.2	glial cell derived neurotrophic factor	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The recombinant form of this protein, a highly conserved neurotrophic factor, was shown to promote the survival and differentiation of dopaminergic neurons in culture, and was able to prevent apoptosis of motor neurons induced by axotomy. This protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. Mutations in this gene may be associated with Hirschsprung disease and Tourette syndrome. This gene encodes multiple protein isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
GDNF-AS1	chr5	37811589	37953827	+	ENSG00000248587.7	antisense	GDNFOS	5p13.2	GDNF antisense RNA 1	Low expression observed in reference dataset
GDPD1	chr17	59220467	59275967	+	ENSG00000153982.10	protein_coding	GDE4	17q22	glycerophosphodiester phosphodiesterase domain containing 1	This gene encodes a member of the glycerophosphodiester phosphodiesterase family of enzymes that catalyze the hydrolysis of deacylated glycerophospholipids to glycerol phosphate and alcohol. The encoded protein is localized to the cytoplasm and concentrates near the perinuclear region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
GDPD3	chr16	30104810	30113856	-	ENSG00000102886.14	protein_coding	GDE7	16p11.2	glycerophosphodiester phosphodiesterase domain containing 3	Broad expression in esophagus (RPKM 15.4), colon (RPKM 11.2) and 22 other tissues
GDPD4	chr11	77216558	77301687	-	ENSG00000178795.9	protein_coding	GDE6	11q13.5	glycerophosphodiester phosphodiesterase domain containing 4	Low expression observed in reference dataset
GDPD5	chr11	75434640	75525903	-	ENSG00000158555.14	protein_coding	GDE2|PP1665	11q13.4-q13.5	glycerophosphodiester phosphodiesterase domain containing 5	Glycerophosphodiester phosphodiesterases (GDPDs; EC 3.1.4.46), such as GDPD5, are involved in glycerol metabolism (Lang et al., 2008 [PubMed 17578682]).[supplied by OMIM, Jan 2010]
GDPGP1	chr15	90233808	90245811	+	ENSG00000183208.12	protein_coding	C15orf58|VTC2	15q26.1	GDP-D-glucose phosphorylase 1	Ubiquitous expression in duodenum (RPKM 1.5), testis (RPKM 1.4) and 25 other tissues
GEM	chr8	94249253	94262350	-	ENSG00000164949.7	protein_coding	KIR	8q22.1	GTP binding protein overexpressed in skeletal muscle	The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
GEMIN4	chr17	744414	753999	-	ENSG00000179409.10	protein_coding	HC56|HCAP1|HHRF-1|NEDMCR|p97	17p13.3	gem nuclear organelle associated protein 4	The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assembly in the cytoplasm, and regenerates spliceosomes required for pre-mRNA splicing in the nucleus. The encoded protein directly interacts with a DEAD box protein and several spliceosome core proteins. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
GEMIN5	chr5	154887416	154938209	-	ENSG00000082516.8	protein_coding	GEMIN-5|NEDCAM	5q33.2	gem nuclear organelle associated protein 5	This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
GEMIN6	chr2	38751534	38785000	+	ENSG00000152147.10	protein_coding	-	2p22.1	gem nuclear organelle associated protein 6	Ubiquitous expression in testis (RPKM 12.8), lymph node (RPKM 7.5) and 25 other tissues
GEMIN7	chr19	45079195	45091524	+	ENSG00000142252.10	protein_coding	SIP3	19q13.32	gem nuclear organelle associated protein 7	The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear gems (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
GEN1	chr2	17753858	17788941	+	ENSG00000178295.14	protein_coding	Gen	2p24.2	GEN1 Holliday junction 5' flap endonuclease	This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed by helix-hairpin-helix domains and disordered C-terminal domains. The protein encoded by this gene is involved in resolution of Holliday junctions, which are intermediate four-way structures that covalently link DNA during homologous recombination and double-strand break repair. The protein resolves Holliday junctions by creating dual incisions across the junction to produce nicked duplex products that can be ligated. In addition, this protein has been found to localize to centrosomes where it has been implicated in regulation of centrosome integrity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
GET1	chr21	 39380326	39428528	+	ENSG00000182093	protein-coding	CHD5|WRB	21q22.2	guided entry of tail-anchored proteins factor 1	This gene is located in the candidate region for congenital heart disease (CHD) in Down syndrome (DS). It encodes a basic protein that functions as a receptor that promotes insertion of tail-anchored proteins in the endoplasmic reticulum membrane. This gene is located at a maternally-methylated differentially methylated region (DMR); however, its transcription may be biallelic, not imprinted. Alternative splicing results in different transcript variants. A pseudogene has been defined on chromosome 4. [provided by RefSeq, Apr 2017]
GET4	chr7	876552	896436	+	ENSG00000239857.6	protein_coding	C7orf20|CEE|CGI-20|TRC35	7p22.3	guided entry of tail-anchored proteins factor 4	Enables chaperone binding activity. Involved in cytoplasmic sequestering of protein; maintenance of unfolded protein involved in ERAD pathway; and tail-anchored membrane protein insertion into ER membrane. Located in chromosome; cytosol; and nuclear lumen. Part of BAT3 complex. [provided by Alliance of Genome Resources, Apr 2022]
GFAP	chr17	44903161	44916937	-	ENSG00000131095.12	protein_coding	ALXDRD	17q21.31	glial fibrillary acidic protein	This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
GFER	chr16	1984207	1987749	+	ENSG00000127554.12	protein_coding	ALR|ERV1|HERV1|HPO|HPO1|HPO2|HSS|MMCHD|MPMCD	16p13.3	growth factor, augmenter of liver regeneration	The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene. [provided by RefSeq, Jul 2008]
GFI1	chr1	92474762	92486876	-	ENSG00000162676.11	protein_coding	GFI-1|GFI1A|SCN2|ZNF163	1p22.1	growth factor independent 1 transcriptional repressor	This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
GFI1B	chr9	132944000	132991687	+	ENSG00000165702.13	protein_coding	BDPLT17|ZNF163B	9q34.13	growth factor independent 1B transcriptional repressor	This gene encodes a zinc-finger containing transcriptional regulator that is primarily expressed in cells of hematopoietic lineage. The encoded protein complexes with numerous other transcriptional regulatory proteins including GATA-1, runt-related transcription factor 1 and histone deacetylases to control expression of genes involved in the development and maturation of erythrocytes and megakaryocytes. Mutations in this gene are the cause of the autosomal dominant platelet disorder, platelet-type bleeding disorder-17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
GFM1	chr3	158644278	158692575	+	ENSG00000168827.14	protein_coding	COXPD1|EFG|EFG1|EFGM|EGF1|GFM|hEFG1|mtEF-G1	3q25.32	G elongation factor mitochondrial 1	Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. [provided by RefSeq, Jul 2008]
GFM2	chr5	74721204	74767371	-	ENSG00000164347.17	protein_coding	EF-G2mt|EFG2|MRRF2|MST027|MSTP027|RRF|RRF2|RRF2mt|hEFG2|mEF-G 2	5q13.3	GTP dependent ribosome recycling factor mitochondrial 2	Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors, which is a GTPase that plays a role at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA . Its role in the regulation of normal mitochondrial function and in disease states attributed to mitochondrial dysfunction is not known. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]
GFOD1	chr6	13357830	13487662	-	ENSG00000145990.10	protein_coding	ADG-90|C6orf114	6p24.1-p23	glucose-fructose oxidoreductase domain containing 1	Broad expression in brain (RPKM 7.3), fat (RPKM 5.7) and 21 other tissues
GFOD2	chr16	67674531	67719421	-	ENSG00000141098.12	protein_coding	-	16q22.1	glucose-fructose oxidoreductase domain containing 2	-
GFPT1	chr2	69319769	69387254	-	ENSG00000198380.12	protein_coding	CMS12|CMSTA1|GFA|GFAT|GFAT 1|GFAT1|GFAT1m|GFPT|GFPT1L|MSLG	2p13.3	glutamine--fructose-6-phosphate transaminase 1	This gene encodes the first and rate-limiting enzyme of the hexosamine pathway and controls the flux of glucose into the hexosamine pathway. The product of this gene catalyzes the formation of glucosamine 6-phosphate. [provided by RefSeq, Sep 2008]
GFPT2	chr5	180300690	180353387	-	ENSG00000131459.12	protein_coding	GFAT|GFAT 2|GFAT2	5q35.3	glutamine-fructose-6-phosphate transaminase 2	Broad expression in appendix (RPKM 10.6), gall bladder (RPKM 9.6) and 23 other tissues
GFRA1	chr10	116056925	116273467	-	ENSG00000151892.14	protein_coding	GDNFR|GDNFRA|GFR-ALPHA-1|GFRalpha-1|RET1L|RETL1|TRNR1	10q25.3	GDNF family receptor alpha 1	This gene encodes a member of the glial cell line-derived neurotrophic factor receptor (GDNFR) family of proteins. The encoded preproprotein is proteolytically processed to generate the mature receptor. Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. This receptor is a glycosylphosphatidylinositol (GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This gene is a candidate gene for Hirschsprung disease. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
GFRA2	chr8	21690403	21812357	-	ENSG00000168546.10	protein_coding	GDNFRB|NRTNR-ALPHA|NTNRA|RETL2|TRNR2	8p21.3	GDNF family receptor alpha 2	Glial cell line-derived neurotrophic factor (GDNF) and neurturin (NTN) are two structurally related, potent neurotrophic factors that play key roles in the control of neuron survival and differentiation. The protein encoded by this gene is a member of the GDNF receptor family. It is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor for both GDNF and NTN, and mediates activation of the RET tyrosine kinase receptor. This encoded protein acts preferentially as a receptor for NTN compared to its other family member, GDNF family receptor alpha 1. This gene is a candidate gene for RET-associated diseases. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
GFRA3	chr5	138252379	138274671	-	ENSG00000146013.10	protein_coding	GDNFR3	5q31.2	GDNF family receptor alpha 3	The protein encoded by this gene is a glycosylphosphatidylinositol(GPI)-linked cell surface receptor and a member of the GDNF receptor family. It forms a signaling receptor complex with RET tyrosine kinase receptor and binds the ligand, artemin. [provided by RefSeq, Jul 2008]
GFRA4	chr20	3659292	3663399	-	ENSG00000125861.14	protein_coding	-	20p13	GDNF family receptor alpha 4	Low expression observed in reference dataset
GFRAL	chr6	55327469	55402493	+	ENSG00000187871.2	protein_coding	C6orf144|GRAL|UNQ9356|bA360D14.1	6p12.1	GDNF family receptor alpha like	Enables glial cell-derived neurotrophic factor receptor activity and receptor tyrosine kinase binding activity. Involved in glial cell-derived neurotrophic factor receptor signaling pathway; positive regulation of MAPK cascade; and positive regulation of protein kinase B signaling. Located in external side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
GFUS	chr8	 143612618	143618048	-	ENSG00000104522	protein-coding	FX|P35B|SDR4E1|TSTA3	8q24.3	GDP-L-fucose synthase	-
GGA1	chr22	37608475	37633564	+	ENSG00000100083.18	protein_coding	-	22q13.1	golgi associated, gamma adaptin ear containing, ARF binding protein 1	Broad expression in testis (RPKM 36.8), spleen (RPKM 8.3) and 23 other tissues
GGA3	chr17	75236599	75262363	-	ENSG00000125447.16	protein_coding	-	17q25.1	golgi associated, gamma adaptin ear containing, ARF binding protein 3	Ubiquitous expression in spleen (RPKM 11.9), lymph node (RPKM 11.0) and 25 other tissues
GGACT	chr13	100530164	100589528	-	ENSG00000134864.10	protein_coding	A2LD1	13q32.3	gamma-glutamylamine cyclotransferase	The protein encoded by this gene aids in the proteolytic degradation of crosslinked fibrin by breaking down isodipeptide L-gamma-glutamyl-L-epsilon-lysine, a byproduct of fibrin degradation. The reaction catalyzed by the encoded gamma-glutamylaminecyclotransferase produces 5-oxo-L-proline and a free alkylamine. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Aug 2010]
GGCT	chr7	30496621	30504844	-	ENSG00000006625.17	protein_coding	C7orf24|CRF21|GCTG|GGC	7p14.3	gamma-glutamylcyclotransferase	The protein encoded by this gene catalyzes the formation of 5-oxoproline from gamma-glutamyl dipeptides, the penultimate step in glutathione catabolism, and may play a critical role in glutathione homeostasis. The encoded protein may also play a role in cell proliferation, and the expression of this gene is a potential marker for cancer. Pseudogenes of this gene are located on the long arm of chromosome 5 and the short arm of chromosomes 2 and 20. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
GGCX	chr2	85544723	85561547	-	ENSG00000115486.11	protein_coding	VKCFD1	2p11.2	gamma-glutamyl carboxylase	This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
GGH	chr8	63015079	63039171	-	ENSG00000137563.11	protein_coding	GATD10|GH	8q12.3	gamma-glutamyl hydrolase	This gene catalyzes the hydrolysis of folylpoly-gamma-glutamates and antifolylpoly-gamma-glutamates by the removal of gamma-linked polyglutamates and glutamate. [provided by RefSeq, Jul 2008]
GGN	chr19	38384265	38388082	-	ENSG00000179168.14	protein_coding	-	19q13.2	gametogenetin	Restricted expression toward testis (RPKM 12.5)
GGNBP1	chr6	33540046	33589026	+	ENSG00000204188.7	transcribed_unitary_pseudogene	-	6p21.31	gametogenetin binding protein 1 (pseudogene)	Biased expression in testis (RPKM 1.5), lymph node (RPKM 0.2) and 2 other tissues
GGNBP2	chr17	36544888	36589848	+	ENSG00000278311.4	protein_coding	DIF-3|DIF3|LCRG1|LZK1|ZFP403|ZNF403	17q12	gametogenetin binding protein 2	Ubiquitous expression in testis (RPKM 42.4), bone marrow (RPKM 29.3) and 25 other tissues
GGPS1	chr1	235327350	235344532	+	ENSG00000152904.11	protein_coding	GGPPS|GGPPS1|MDHLO|MUDHLOV	1q42.3	geranylgeranyl diphosphate synthase 1	This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The enzyme catalyzes the synthesis of GGPP from farnesyl diphosphate and isopentenyl diphosphate. GGPP is an important molecule responsible for the C20-prenylation of proteins and for the regulation of a nuclear hormone receptor. Alternate transcriptional splice variants, both protein-coding and non-protein-coding, have been found for this gene. [provided by RefSeq, Sep 2010]
GGT2	chr22	21207973	21227637	-	ENSG00000133475.16	protein_coding	GGT|GGT 2	22q11.21	gamma-glutamyltransferase 2	GGT2 belongs to the gamma-glutamyltransferase (GGT; EC 2.3.2.2) gene family. GGT is a membrane-bound extracellular enzyme that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides and transfers the gamma-glutamyl moiety to acceptors. GGT is also key to glutathione homeostasis because it provides substrates for glutathione synthesis (Heisterkamp et al., 2008 [PubMed 18357469]).[supplied by OMIM, Oct 2008]
GGT5	chr22	24219654	24245142	-	ENSG00000099998.17	protein_coding	GGL|GGT 5|GGT-REL|GGTLA1	22q11.23	gamma-glutamyltransferase 5	This gene is a member of the gamma-glutamyl transpeptidase gene family, and some reports indicate that it is capable of cleaving the gamma-glutamyl moiety of glutathione. The protein encoded by this gene is synthesized as a single, catalytically-inactive polypeptide, that is processed post-transcriptionally to form a heavy and light subunit, with the catalytic activity contained within the small subunit. The encoded enzyme is able to convert leukotriene C4 to leukotriene D4, but appears to have distinct substrate specificity compared to gamma-glutamyl transpeptidase. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
GGT7	chr20	34844720	34872860	-	ENSG00000131067.16	protein_coding	D20S101|GGT4|GGTL3|GGTL5	20q11.22	gamma-glutamyltransferase 7	This gene is a member of a gene family that encodes enzymes involved in both the metabolism of glutathione and in the transpeptidation of amino acids. Changes in the activity of gamma-glutamyltransferase may signal preneoplastic or toxic conditions in the liver or kidney. The protein encoded by this gene consists of a heavy and a light chain, and it can interact with CT120, a plasma membrane-associated protein that is possibly involved in lung carcinogenesis. [provided by RefSeq, Jul 2008]
GGTA1	chr9	 121444990	121499844	-	ENSG00000204136	protein-coding	GGTA|GGTA1P|GLYT2|a1/3GTP	9q33.2	glycoprotein alpha-galactosyltransferase 1 (inactive)	-
GGTLC1	chr20	23985050	23988779	-	ENSG00000149435.12	protein_coding	GGTL6|GGTLA3|GGTLA4|dJ831C21.1|dJ831C21.2	20p11.21	gamma-glutamyltransferase light chain 1	This gene encodes a member of the gamma-glutamyl transpeptidase (GGT) family, which are important in the metabolism of glutathione. The most ubiquitously expressed human GGT gene, GGT1, encodes a single transmembrane polypeptide that is post-translationally processed to form a heavy and a light chain. In contrast, the product of this gene only contains homology to the light chain region, and lacks a transmembrane domain. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]
GGTLC4P	chr22	24248074	24249466	-	ENSG00000230712.2	unprocessed_pseudogene	GGT	22q11.23	gamma-glutamyltransferase light chain 4 pseudogene	-
GH1	chr17	63917200	63918838	-	ENSG00000259384.6	protein_coding	GH|GH-N|GHB5|GHN|IGHD1A|IGHD1B|IGHD2|hGH-N	17q23.3	growth hormone 1	The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008]
GHDC	chr17	42188799	42194532	-	ENSG00000167925.15	protein_coding	D11LGP1|LGP1	17q21.2	GH3 domain containing	Predicted to enable acid-amino acid ligase activity. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
GHET1	chr7	148987527	148989432	+	ENSG00000281189.1	lincRNA	lncRNA-GHET1	7q36.1	gastric carcinoma proliferation enhancing transcript 1	This gene encodes an unspliced long non-coding RNA that has been suggested to promote the proliferation of gastric carcinoma cells and bladder cancer cells. [provided by RefSeq, Dec 2014]
GHITM	chr10	84139440	84153245	+	ENSG00000165678.20	protein_coding	DERP2|HSPC282|MICS1|My021|PTD010|TMBIM5	10q23.1	growth hormone inducible transmembrane protein	Ubiquitous expression in heart (RPKM 139.5), kidney (RPKM 133.1) and 25 other tissues
GHR	chr5	42423777	42721878	+	ENSG00000112964.13	protein_coding	GHBP|GHIP	5p13.1-p12	growth hormone receptor	This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]
GHRH	chr20	37251082	37261835	-	ENSG00000118702.9	protein_coding	GHRF|GRF|INN	20q11.23	growth hormone releasing hormone	This gene encodes a member of the glucagon family of proteins. The encoded preproprotein is produced in the hypothalamus and cleaved to generate the mature factor, known as somatoliberin, which acts to stimulate growth hormone release from the pituitary gland. Variant receptors for somatoliberin have been found in several types of tumors, and antagonists of these receptors can inhibit the growth of the tumors. Defects in this gene are a cause of dwarfism, while hypersecretion of the encoded protein is a cause of gigantism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
GHRL	chr3	10285675	10292947	-	ENSG00000157017.15	protein_coding	MTLRP	3p25.3	ghrelin and obestatin prepropeptide	This gene encodes the ghrelin-obestatin preproprotein that is cleaved to yield two peptides, ghrelin and obestatin. Ghrelin is a powerful appetite stimulant and plays an important role in energy homeostasis. Its secretion is initiated when the stomach is empty, whereupon it binds to the growth hormone secretagogue receptor in the hypothalamus which results in the secretion of growth hormone (somatotropin). Ghrelin is thought to regulate multiple activities, including hunger, reward perception via the mesolimbic pathway, gastric acid secretion, gastrointestinal motility, and pancreatic glucose-stimulated insulin secretion. It was initially proposed that obestatin plays an opposing role to ghrelin by promoting satiety and thus decreasing food intake, but this action is still debated. Recent reports suggest multiple metabolic roles for obestatin, including regulating adipocyte function and glucose metabolism. Alternative splicing results in multiple transcript variants. In addition, antisense transcripts for this gene have been identified and may potentially regulate ghrelin-obestatin preproprotein expression. [provided by RefSeq, Nov 2014]
GHRLOS	chr3	10285754	10293449	+	ENSG00000240288.7	antisense	GHRL-AS1|GHRLAS|NCRNA00068	3p25.3	ghrelin opposite strand/antisense RNA	This gene is an antisense gene of the ghrelin/obestatin prepropeptide gene. Alternatively spliced transcript variants have been identified and they may function as non-coding regulatory RNAs. [provided by RefSeq, Jan 2013]
GHSR	chr3	172445133	172448456	-	ENSG00000121853.3	protein_coding	GHDP	3q26.31	growth hormone secretagogue receptor	This gene encodes a member of the G-protein coupled receptor family. The encoded protein may play a role in energy homeostasis and regulation of body weight. Two identified transcript variants are expressed in several tissues and are evolutionary conserved in fish and swine. One transcript, 1a, excises an intron and encodes the functional protein; this protein is the receptor for the Ghrelin ligand and defines a neuroendocrine pathway for growth hormone release. The second transcript (1b) retains the intron and does not function as a receptor for Ghrelin; however, it may function to attenuate activity of isoform 1a. Mutations in this gene are associated with autosomal idiopathic short stature.[provided by RefSeq, Apr 2010]
GID4	chr17	18039292	18068404	+	ENSG00000141034.9	protein_coding	C17orf39|VID2|VID24	17p11.2|17p11.2	GID complex subunit 4 homolog	The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
GID8	chr20	62938119	62948475	+	ENSG00000101193.7	protein_coding	C20orf11|TWA1	20q13.33	GID complex subunit 8 homolog	Ubiquitous expression in esophagus (RPKM 17.5), ovary (RPKM 15.5) and 25 other tissues
GIGYF1	chr7	100679507	100689448	-	ENSG00000146830.9	protein_coding	GYF1|PERQ1	7q22.1	GRB10 interacting GYF protein 1	This gene encodes a member of the gyf family of adaptor proteins. The encoded protein contains a gyf protein interaction domain. It binds growth factor receptor bound 10, another adaptor protein that binds activated insulin-like growth factor 1 and insulin receptors and regulates receptor signaling. [provided by RefSeq, Apr 2017]
GIGYF2	chr2	232697299	232860575	+	ENSG00000204120.14	protein_coding	GYF2|PARK11|PERQ2|PERQ3|TNRC15	2q37.1	GRB10 interacting GYF protein 2	This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
GIMAP1	chr7	150716557	150724284	+	ENSG00000213203.2	protein_coding	HIMAP1|IAN2|IMAP1|IMAP38	7q36.1	GTPase, IMAP family member 1	This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. This gene is thought to be involved in the differentiation of T helper (Th) cells of the Th1 lineage, and the related mouse gene has been shown to be critical for the development of mature B and T lymphocytes. Read-through transcription exists between this gene and the downstream GIMAP5 (GTPase, IMAP family member 5) gene. [provided by RefSeq, Dec 2010]
GIMAP2	chr7	150685697	150693641	+	ENSG00000106560.10	protein_coding	HIMAP2|IAN12|IMAP2	7q36.1	GTPase, IMAP family member 2	This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]
GIMAP4	chr7	150567277	150573955	+	ENSG00000133574.9	protein_coding	IAN-1|IAN1|IMAP4|MSTP062	7q36.1	GTPase, IMAP family member 4	This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. The encoded protein of this gene may be negatively regulated by T-cell acute lymphocytic leukemia 1 (TAL1). In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]
GIMAP5	chr7	150722253	150750033	+	ENSG00000196329.11	protein_coding	HIMAP3|IAN-5|IAN4|IAN4L1|IAN5|IMAP3|IROD|NCPH2	7q36.1	GTPase, IMAP family member 5	This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. This gene encodes an antiapoptotic protein that functions in T-cell survival. Polymorphisms in this gene are associated with systemic lupus erythematosus. Read-through transcription exists between this gene and the neighboring upstream GIMAP1 (GTPase, IMAP family member 1) gene. [provided by RefSeq, Dec 2010]
GIMAP6	chr7	150625375	150632648	-	ENSG00000133561.15	protein_coding	IAN-2|IAN-6|IAN2|IAN6	7q36.1	GTPase, IMAP family member 6	This gene encodes a member of the GTPases of immunity-associated proteins (GIMAP) family. GIMAP proteins contain GTP-binding and coiled-coil motifs, and may play roles in the regulation of cell survival. Decreased expression of this gene may play a role in non-small cell lung cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is found in a cluster with seven additional GIMAP genes on the long arm of chromosome 7. [provided by RefSeq, Sep 2011]
GIMAP7	chr7	150514830	150521073	+	ENSG00000179144.4	protein_coding	IAN7|hIAN7	7q36.1	GTPase, IMAP family member 7	This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]
GIMAP8	chr7	150450630	150479392	+	ENSG00000171115.3	protein_coding	IAN-9|IAN6|IAN9|IANT	7q36.1	GTPase, IMAP family member 8	This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]
GIN1	chr5	103086000	103120151	-	ENSG00000145723.16	protein_coding	GIN-1|TGIN1|ZH2C2	5q21.1	gypsy retrotransposon integrase 1	Ubiquitous expression in testis (RPKM 1.7), thyroid (RPKM 1.6) and 25 other tissues
GINM1	chr6	149566294	149591748	+	ENSG00000055211.12	protein_coding	C6orf72	6q25.1	glycoprotein integral membrane 1	Ubiquitous expression in thyroid (RPKM 51.1), kidney (RPKM 49.2) and 25 other tissues
GINS1	chr20	25407727	25452628	+	ENSG00000101003.9	protein_coding	IMD55|PSF1	20p11.21	GINS complex subunit 1	The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1, Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]).[supplied by OMIM, Mar 2008]
GINS2	chr16	85676198	85690073	-	ENSG00000131153.8	protein_coding	HSPC037|PSF2|Pfs2	16q24.1	GINS complex subunit 2	The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1 (GINS1; MIM 610608), Psf2, and Psf3 (GINS3; MIM 610610). The formation of this complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008]
GINS4	chr8	41529206	41545046	+	ENSG00000147536.11	protein_coding	SLD5	8p11.21	GINS complex subunit 4	The yeast heterotetrameric GINS complex is made up of Sld5, Psf1 (GINS1; MIM 610608), Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008]
GIPC1	chr19	14477760	14496149	-	ENSG00000123159.15	protein_coding	C19orf3|GIPC|GLUT1CBP|Hs.6454|IIP-1|NIP|OPDM2|RGS19IP1|SEMCAP|SYNECTIIN|SYNECTIN|TIP-2	19p13.12	GIPC PDZ domain containing family member 1	GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009]
GIPC2	chr1	77979542	78138449	+	ENSG00000137960.5	protein_coding	SEMCAP-2|SEMCAP2	1p31.1	GIPC PDZ domain containing family member 2	Broad expression in kidney (RPKM 20.2), small intestine (RPKM 19.8) and 18 other tissues
GIPR	chr19	45668244	45683724	+	ENSG00000010310.8	protein_coding	PGQTL2	19q13.32	gastric inhibitory polypeptide receptor	This gene encodes a G-protein coupled receptor for gastric inhibitory polypeptide (GIP), which was originally identified as an activity in gut extracts that inhibited gastric acid secretion and gastrin release, but subsequently was demonstrated to stimulate insulin release in the presence of elevated glucose. Mice lacking this gene exhibit higher blood glucose levels with impaired initial insulin response after oral glucose load. Defect in this gene thus may contribute to the pathogenesis of diabetes. [provided by RefSeq, Oct 2011]
GIT1	chr17	29573469	29594054	-	ENSG00000108262.15	protein_coding	p95-APP1	17q11.2	GIT ArfGAP 1	Broad expression in testis (RPKM 58.9), brain (RPKM 28.4) and 23 other tissues
GIT2	chr12	109929792	109996389	-	ENSG00000139436.20	protein_coding	CAT-2|CAT2|PKL	12q24.11	GIT ArfGAP 2	This gene encodes a member of the GIT protein family, which interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. GIT proteins traffic between cytoplasmic complexes, focal adhesions, and the cell periphery, and interact with Pak interacting exchange factor beta (PIX) to form large oligomeric complexes that transiently recruit other proteins. GIT proteins regulate cytoskeletal dynamics and participate in receptor internalization and membrane trafficking. This gene has been shown to repress lamellipodial extension and focal adhesion turnover, and is thought to regulate cell motility. This gene undergoes extensive alternative splicing to generate multiple isoforms, but the full-length nature of some of these variants has not been determined. The various isoforms have functional differences, with respect to ARF GAP activity and to G protein-coupled receptor kinase 2 binding. [provided by RefSeq, Sep 2008]
GJA1	chr6	121435692	121449727	+	ENSG00000152661.7	protein_coding	AVSD3|CMDR|CX43|EKVP|EKVP3|GJAL|HLHS1|HSS|ODDD|PPKCA	6q22.31	gap junction protein alpha 1	This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]
GJA10	chr6	89894469	89921760	+	ENSG00000135355.4	protein_coding	CX62	6q15	gap junction protein alpha 10	Connexins, such as GJA10, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]
GJA1P1	chr5	109051315	109052457	-	ENSG00000176857.5	processed_pseudogene	-	5q21.3	gap junction protein alpha 1 pseudogene 1	-
GJA4	chr1	34792998	34795747	+	ENSG00000187513.8	protein_coding	CX37	1p34.3	gap junction protein alpha 4	This gene encodes a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene have been associated with atherosclerosis and a higher risk of myocardial infarction. [provided by RefSeq, Jul 2008]
GJA5	chr1	147756199	147773362	-	ENSG00000265107.2	protein_coding	ATFB11|CX40	1q21.2	gap junction protein alpha 5	This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]
GJB2	chr13	20187470	20192898	-	ENSG00000165474.5	protein_coding	BAPS|CX26|DFNA3|DFNA3A|DFNB1|DFNB1A|HID|KID|NSRD1|PPK	13q12.11	gap junction protein beta 2	This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. [provided by RefSeq, Oct 2008]
GJB4	chr1	34759741	34763724	+	ENSG00000189433.5	protein_coding	CX30.3|EKV|EKVP2	1p34.3	gap junction protein beta 4	This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq, Dec 2009]
GJB7	chr6	87282978	87329278	-	ENSG00000164411.11	protein_coding	CX25|bA136M9.1|connexin25	6q14.3-q15	gap junction protein beta 7	Connexins, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]
GJC1	chr17	44798448	44830816	-	ENSG00000182963.9	protein_coding	CX45|GJA7	17q21.31	gap junction protein gamma 1	This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]
GJC2	chr1	228149852	228159826	+	ENSG00000198835.3	protein_coding	CX46.6|Cx47|GJA12|HLD2|LMPH1C|LMPHM3|PMLDAR|SPG44	1q42.13	gap junction protein gamma 2	This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]
GJC3	chr7	99923269	99929620	-	ENSG00000176402.5	protein_coding	CX29|CX30.2|CX31.3|GJE1	7q22.1	gap junction protein gamma 3	This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[provided by RefSeq, Feb 2010]
GK5	chr3	142157527	142225607	-	ENSG00000175066.15	protein_coding	-	3q23	glycerol kinase 5	-
GKAP1	chr9	83739421	83829516	-	ENSG00000165113.12	protein_coding	FKSG21|GKAP42	9q21.32	G kinase anchoring protein 1	This gene encodes a protein that is highly similar to the mouse cGMP-dependent protein kinase anchoring protein 42kDa. The mouse protein has been found to localize with the Golgi and recruit cGMP-dependent protein kinase I alpha to the Golgi in mouse testes. It is thought to play a role in germ cell development. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
GKN2	chr2	68945232	68952970	-	ENSG00000183607.9	protein_coding	BRICD1B|GDDR|PRO813|TFIZ1|VLTI465	2p13.3	gastrokine 2	The secretory protein encoded by this gene is produced in gastric surface mucous cells, where it can bind trefoil factor family peptide 1 or gastrokine-1. This gene may be a tumor suppressor gene, as its expression is markedly decreased in gastric cancer tissues. The encoded protein interacts with gastrokine-1 and regulates homeostasis of the gastric mucosa. [provided by RefSeq, Dec 2015]
GLB1	chr3	32996608	33097230	-	ENSG00000170266.15	protein_coding	EBP|ELNR1|MPS4B	3p22.3	galactosidase beta 1	This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]
GLB1L	chr2	219236606	219245478	-	ENSG00000163521.15	protein_coding	-	2q35	galactosidase beta 1 like	-
GLB1L2	chr11	134331874	134378341	+	ENSG00000149328.14	protein_coding	MST114|MSTP114	11q25	galactosidase beta 1 like 2	Broad expression in prostate (RPKM 28.1), thyroid (RPKM 21.3) and 17 other tissues
GLB1L3	chr11	134274245	134319564	+	ENSG00000166105.15	protein_coding	-	11q25	galactosidase beta 1 like 3	-
GLCCI1	chr7	7968794	8094272	+	ENSG00000106415.12	protein_coding	FAM117C|GCTR|GIG18|TSSN1	7p21.3	glucocorticoid induced 1	This gene encodes a protein of unknown function. Expression of this gene is induced by glucocorticoids and may be an early marker for glucocorticoid-induced apoptosis. Single nucleotide polymorphisms in this gene are associated with a decreased response to inhaled glucocorticoids in asthmatic patients. [provided by RefSeq, Feb 2012]
GLCE	chr15	69160584	69272217	+	ENSG00000138604.9	protein_coding	HSEPI	15q23	glucuronic acid epimerase	Ubiquitous expression in colon (RPKM 5.9), duodenum (RPKM 5.7) and 25 other tissues
GLDC	chr9	6532464	6645783	-	ENSG00000178445.9	protein_coding	GCE|GCSP|HYGN1	9p24.1	glycine decarboxylase	Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the P protein, which binds to glycine and enables the methylamine group from glycine to be transferred to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH).[provided by RefSeq, Jan 2010]
GLDN	chr15	51341629	51408013	+	ENSG00000186417.13	protein_coding	CLOM|COLM|CRG-L2|CRGL2|LCCS11|UNC-112|UNC-122	15q21.2	gliomedin	This gene encodes a protein that contains olfactomedin-like and collagen-like domains. The encoded protein, which exists in both transmembrane and secreted forms, promotes formation of the nodes of Ranvier in the peripheral nervous system. Mutations in this gene cause a form of lethal congenital contracture syndrome in human patients. Autoantibodies to the encoded protein have been identified in sera form patients with multifocal motor neuropathy. [provided by RefSeq, May 2017]
GLE1	chr9	128504700	128542288	+	ENSG00000119392.14	protein_coding	CAAHC|CAAHD|GLE1L|LCCS|LCCS1|hGLE1	9q34.11	GLE1 RNA export mediator	This gene encodes a predicted 75-kDa polypeptide with high sequence and structure homology to yeast Gle1p, which is nuclear protein with a leucine-rich nuclear export sequence essential for poly(A)+RNA export. Inhibition of human GLE1L by microinjection of antibodies against GLE1L in HeLa cells resulted in inhibition of poly(A)+RNA export. Immunoflourescence studies show that GLE1L is localized at the nuclear pore complexes. This localization suggests that GLE1L may act at a terminal step in the export of mature RNA messages to the cytoplasm. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GLG1	chr16	74447427	74607144	-	ENSG00000090863.11	protein_coding	CFR-1|ESL-1|MG-160|MG160	16q23.1	golgi glycoprotein 1	Ubiquitous expression in ovary (RPKM 26.0), testis (RPKM 23.5) and 25 other tissues
GLI1	chr12	57460135	57472262	+	ENSG00000111087.9	protein_coding	GLI|PAPA8|PPD1	12q13.3	GLI family zinc finger 1	This gene encodes a member of the Kruppel family of zinc finger proteins. The encoded transcription factor is activated by the sonic hedgehog signal transduction cascade and regulates stem cell proliferation. The activity and nuclear localization of this protein is negatively regulated by p53 in an inhibitory loop. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
GLI2	chr2	120735623	120992653	+	ENSG00000074047.21	protein_coding	CJS|HPE9|PHS2|THP1|THP2	2q14.2	GLI family zinc finger 2	This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]
GLI3	chr7	41960950	42237870	-	ENSG00000106571.12	protein_coding	ACLS|GCPS|GLI3-190|GLI3FL|PAP-A|PAPA|PAPA1|PAPB|PHS|PPDIV	7p14.1	GLI family zinc finger 3	This gene encodes a protein which belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. [provided by RefSeq, Jul 2008]
GLI4	chr8	143267433	143276931	+	ENSG00000250571.6	protein_coding	HKR4|ZNF928	8q24.3	GLI family zinc finger 4	Ubiquitous expression in fat (RPKM 5.3), spleen (RPKM 4.2) and 25 other tissues
GLIPR1	chr12	75480680	75503853	+	ENSG00000139278.9	protein_coding	CRISP7|GLIPR|RTVP1	12q21.2	GLI pathogenesis related 1	This gene encodes a protein with similarity to both the pathogenesis-related protein (PR) superfamily and the cysteine-rich secretory protein (CRISP) family. Increased expression of this gene is associated with myelomocytic differentiation in macrophage and decreased expression of this gene through gene methylation is associated with prostate cancer. The protein has proapoptotic activities in prostate and bladder cancer cells. This gene is a member of a cluster on chromosome 12 containing two other similar genes. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
GLIPR1L2	chr12	75391070	75432688	+	ENSG00000180481.10	protein_coding	-	12q21.2	GLIPR1 like 2	Biased expression in testis (RPKM 10.0), ovary (RPKM 1.3) and 3 other tissues
GLIPR2	chr9	36136536	36163913	+	ENSG00000122694.15	protein_coding	C9orf19|GAPR-1|GAPR1	9p13.3	GLI pathogenesis related 2	Broad expression in lung (RPKM 23.8), appendix (RPKM 20.8) and 24 other tissues
GLIS1	chr1	53506237	53738106	-	ENSG00000174332.5	protein_coding	-	1p32.3	GLIS family zinc finger 1	Low expression observed in reference dataset
GLIS2	chr16	4314761	4339597	+	ENSG00000126603.8	protein_coding	NKL|NPHP7	16p13.3	GLIS family zinc finger 2	This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this proteins C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.[provided by RefSeq, Jan 2010]
GLIS3	chr9	3824127	4348392	-	ENSG00000107249.21	protein_coding	NDH|ZNF515	9p24.2	GLIS family zinc finger 3	This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear protein with five C2H2-type zinc finger domains. This protein functions as both a repressor and activator of transcription and is specifically involved in the development of pancreatic beta cells, the thyroid, eye, liver and kidney. Mutations in this gene have been associated with neonatal diabetes and congenital hypothyroidism (NDH). Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only two have been determined. [provided by RefSeq, Jul 2008]
GLIS3-AS1	chr9	3898642	3901248	+	ENSG00000237009.2	antisense	C9orf70	9p24.2	GLIS3 antisense RNA 1	Broad expression in thyroid (RPKM 3.6), gall bladder (RPKM 1.0) and 17 other tissues
GLMN	chr1	92246402	92298987	-	ENSG00000174842.16	protein_coding	FAP|FAP48|FAP68|FKBPAP|GLML|GVM|VMGLOM	1p22.1	glomulin, FKBP associated protein	This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Multiple splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
GLMP	chr1	156290089	156295689	-	ENSG00000198715.11	protein_coding	C1orf85|NCU-G1	1q22	glycosylated lysosomal membrane protein	Ubiquitous expression in prostate (RPKM 30.2), placenta (RPKM 24.2) and 25 other tissues
GLO1	chr6	38675925	38703141	-	ENSG00000124767.6	protein_coding	GLOD1|GLYI|HEL-S-74	6p21.2	glyoxalase I	The enzyme encoded by this gene is responsible for the catalysis and formation of S-lactoyl-glutathione from methylglyoxal condensation and reduced glutatione.  Glyoxalase I is linked to HLA and is localized to 6p21.3-p21.1, between HLA and the centromere. [provided by RefSeq, Jul 2008]
GLOD4	chr17	757097	783390	-	ENSG00000167699.13	protein_coding	C17orf25|CGI-150|HC71	17p13.3	glyoxalase domain containing 4	Ubiquitous expression in kidney (RPKM 28.9), duodenum (RPKM 28.6) and 25 other tissues
GLP1R	chr6	39048798	39087743	+	ENSG00000112164.5	protein_coding	GLP-1|GLP-1-R|GLP-1R	6p21.2	glucagon like peptide 1 receptor	This gene encodes a 7-transmembrane protein that functions as a receptor for glucagon-like peptide 1 (GLP-1) hormone, which stimulates glucose-induced insulin secretion. This receptor, which functions at the cell surface, becomes internalized in response to GLP-1 and GLP-1 analogs, and it plays an important role in the signaling cascades leading to insulin secretion. It also displays neuroprotective effects in animal models. Polymorphisms in this gene are associated with diabetes. The protein is an important drug target for the treatment of type 2 diabetes and stroke. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
GLRA1	chr5	151822513	151924842	-	ENSG00000145888.10	protein_coding	HKPX1|STHE	5q33.1	glycine receptor alpha 1	The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Multiple transcript variants encoding different isoforms have been found. [provided by RefSeq, Dec 2015]
GLRA3	chr4	174636914	174829314	-	ENSG00000145451.12	protein_coding	-	4q34.1	glycine receptor alpha 3	Biased expression in brain (RPKM 2.6), adrenal (RPKM 0.4) and 1 other tissue
GLRX	chr5	95751319	95823005	-	ENSG00000173221.13	protein_coding	GRX|GRX1	5q15	glutaredoxin	This gene encodes a member of the glutaredoxin family. The encoded protein is a cytoplasmic enzyme catalyzing the reversible reduction of glutathione-protein mixed disulfides. This enzyme highly contributes to the antioxidant defense system. It is crucial for several signalling pathways by controlling the S-glutathionylation status of signalling mediators. It is involved in beta-amyloid toxicity and Alzheimers disease. Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Aug 2011]
GLRX2	chr1	193096468	193106114	-	ENSG00000023572.8	protein_coding	CGI-133|GRX2	1q31.2	glutaredoxin 2	The protein encoded by this gene is a member of the glutaredoxin family of proteins, which maintain cellular thiol homeostasis. These proteins are thiol-disulfide oxidoreductases that use a glutathione-binding site and one or two active cysteines in their active site. This gene undergoes alternative splicing to produce multiple isoforms, one of which is ubiquitously expressed and localizes to mitochondria, where it functions in mitochondrial redox homeostasis and is important for the protection against and recovery from oxidative stress. Other isoforms, which have more restrictive expression patterns, show cytosolic and nuclear localization, and are thought to function in cellular differentiation and transformation, possibly with a role in tumor progression. [provided by RefSeq, Aug 2011]
GLRX3	chr10	130136399	130184521	+	ENSG00000108010.11	protein_coding	GLRX4|GRX3|GRX4|PICOT|TXNL2|TXNL3	10q26.3	glutaredoxin 3	This gene encodes a member of the glutaredoxin family. Glutaredoxins are oxidoreductase enzymes that reduce a variety of substrates using glutathione as a cofactor. The encoded protein binds to and modulates the function of protein kinase C theta. The encoded protein may also inhibit apoptosis and play a role in cellular growth, and the expression of this gene may be a marker for cancer. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 9. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
GLRX5	chr14	95533503	95544724	+	ENSG00000182512.4	protein_coding	C14orf87|FLB4739|GRX5|PR01238|PRO1238|PRSA|SIDBA3|SPAHGC	14q32.13	glutaredoxin 5	This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in this gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, May 2010]
GLS	chr2	190880827	190965552	+	ENSG00000115419.12	protein_coding	AAD20|CASGID|DEE71|EIEE71|GAC|GAM|GDPAG|GLS1|KGA	2q32.2	glutaminase	This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
GLS2	chr12	56470944	56488414	-	ENSG00000135423.12	protein_coding	GA|GLS|LGA|hLGA	12q13.3	glutaminase 2	The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]
GLT1D1	chr12	128853427	128984968	+	ENSG00000151948.11	protein_coding	-	12q24.33	glycosyltransferase 1 domain containing 1	-
GLT8D1	chr3	52694488	52706032	-	ENSG00000016864.18	protein_coding	AD-017|MSTP139	3p21.1	glycosyltransferase 8 domain containing 1	This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene [provided by RefSeq, May 2013]
GLT8D2	chr12	103988984	104064183	-	ENSG00000120820.12	protein_coding	-	12q23.3	glycosyltransferase 8 domain containing 2	-
GLTP	chr12	109850943	109880488	-	ENSG00000139433.9	protein_coding	-	12q24.11	glycolipid transfer protein	Broad expression in esophagus (RPKM 87.8), skin (RPKM 85.1) and 23 other tissues
GLTPD2	chr17	4788959	4790390	+	ENSG00000182327.7	protein_coding	-	17p13.2	glycolipid transfer protein domain containing 2	-
GLUD1	chr10	87050486	87094866	-	ENSG00000148672.8	protein_coding	GDH|GDH1|GLUD	10q23.2	glutamate dehydrogenase 1	This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016]
GLUD1P2	chr10	46759019	46786770	-	ENSG00000265366.6	transcribed_unprocessed_pseudogene	GLUD1P7|GLUDP2|GLUDP7	10q11.22	glutamate dehydrogenase 1 pseudogene 2	Broad expression in liver (RPKM 3.6), kidney (RPKM 3.5) and 25 other tissues
GLUD1P3	chr10	73730562	73737311	+	ENSG00000250959.2	transcribed_unprocessed_pseudogene	C10orf102|GLUDP3	10q22.2	glutamate dehydrogenase 1 pseudogene 3	Ubiquitous expression in spleen (RPKM 1.9), endometrium (RPKM 1.8) and 25 other tissues
GLUL	chr1	182381704	182392206	-	ENSG00000135821.17	protein_coding	GLNS|GS|PIG43|PIG59	1q25.3	glutamate-ammonia ligase	The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role in ammonia and glutamate detoxification, acid-base homeostasis, cell signaling, and cell proliferation. Glutamine is an abundant amino acid, and is important to the biosynthesis of several amino acids, pyrimidines, and purines. Mutations in this gene are associated with congenital glutamine deficiency, and overexpression of this gene was observed in some primary liver cancer samples. There are six pseudogenes of this gene found on chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
GLYATL2	chr11	58834065	58904215	-	ENSG00000156689.6	protein_coding	BXMAS2-10|GATF-B	11q12.1	glycine-N-acyltransferase like 2	Biased expression in gall bladder (RPKM 3.1), salivary gland (RPKM 1.2) and 5 other tissues
GLYCTK	chr3	52287089	52293476	+	ENSG00000168237.17	protein_coding	HBEBP2|HBEBP4|HBeAgBP4A	3p21.2	glycerate kinase	This locus encodes a member of the glycerate kinase type-2 family. The encoded enzyme catalyzes the phosphorylation of (R)-glycerate and may be involved in serine degradation and fructose metabolism. Decreased activity of the encoded enzyme may be associated with the disease D-glyceric aciduria. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]
GLYCTK-AS1	chr3	52288580	52299067	-	ENSG00000242797.3	processed_transcript	-	3p21.2	GLYCTK antisense RNA 1	-
GLYR1	chr16	4803203	4847342	-	ENSG00000140632.16	protein_coding	BM045|HIBDL|N-PAC|NP60|hNDF	16p13.3	glyoxylate reductase 1 homolog	Ubiquitous expression in kidney (RPKM 24.0), brain (RPKM 23.5) and 25 other tissues
GM2A	chr5	151212150	151270440	+	ENSG00000196743.8	protein_coding	GM2-AP|SAP-3	5q33.1	GM2 ganglioside activator	This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
GMCL1	chr2	69829642	69881396	+	ENSG00000087338.4	protein_coding	BTBD13|GCL|GCL1|SPATA29	2p13.3	germ cell-less 1, spermatogenesis associated	This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-less gene but the human genome also contains a single-exon locus on chromosome 5 that contains an open reading frame capable of encoding a highly-related protein. [provided by RefSeq, Jul 2008]
GMDS	chr6	1623806	2245692	-	ENSG00000112699.10	protein_coding	GMD|SDR3E1	6p25.3	GDP-mannose 4,6-dehydratase	GDP-mannose 4,6-dehydratase (GMD; EC 4.2.1.47) catalyzes the conversion of GDP-mannose to GDP-4-keto-6-deoxymannose, the first step in the synthesis of GDP-fucose from GDP-mannose, using NADP+ as a cofactor. The second and third steps of the pathway are catalyzed by a single enzyme, GDP-keto-6-deoxymannose 3,5-epimerase, 4-reductase, designated FX in humans (MIM 137020).[supplied by OMIM, Aug 2009]
GMDS-DT	chr6	 2245753	2413591	+	ENSG00000250903	ncRNA	GMDS-AS1	6p25.3-p25.2	GMDS divergent transcript	Ubiquitous expression in thyroid (RPKM 1.9), prostate (RPKM 1.4) and 25 other tissues
GMEB1	chr1	28668732	28719353	+	ENSG00000162419.12	protein_coding	P96PIF|PIF96	1p35.3	glucocorticoid modulatory element binding protein 1	This gene encodes a member of KDWK gene family which associates with GMEB2 protein. The GMEB1-GMEB2 complex is essential for parvovirus DNA replication. Studies in rat for a similar gene suggest that this genes role is to modulate the transactivation of the glucocorticoid receptor when it is bound to glucocorticoid response elements. Three alternative spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Feb 2016]
GMEB2	chr20	63587602	63627041	-	ENSG00000101216.10	protein_coding	GMEB-2|P79PIF|PIF79	20q13.33	glucocorticoid modulatory element binding protein 2	This gene is a member of KDWK gene family. The product of this gene associates with GMEB1 protein, and the complex is essential for parvovirus DNA replication. Study of rat homolog implicates the role of this gene in modulation of transactivation by the glucocorticoid receptor bound to glucocorticoid response elements. This gene appears to use multiple polyadenylation sites. [provided by RefSeq, Jul 2008]
GMFB	chr14	54474484	54489196	-	ENSG00000197045.12	protein_coding	GMF	14q22.2	glia maturation factor beta	Ubiquitous expression in brain (RPKM 45.0), colon (RPKM 21.0) and 24 other tissues
GMFG	chr19	39328353	39342372	-	ENSG00000130755.12	protein_coding	GMF-GAMMA	19q13.2	glia maturation factor gamma	Broad expression in bone marrow (RPKM 133.3), spleen (RPKM 93.4) and 15 other tissues
GMIP	chr19	19629476	19643667	-	ENSG00000089639.10	protein_coding	ARHGAP46	19p13.11	GEM interacting protein	This gene encodes a member of the ARHGAP family of Rho/Rac/Cdc42-like GTPase activating proteins. The encoded protein interacts with the Ras-related protein Gem through its N-terminal domain. Separately, it interacts with RhoA through a RhoGAP domain, and stimulates RhoA-dependent GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
GML	chr8	142834247	142916506	+	ENSG00000104499.6	protein_coding	LY6DL	8q24.3	glycosylphosphatidylinositol anchored molecule like	Low expression observed in reference dataset
GMNC	chr3	190852877	190892429	-	ENSG00000205835.8	protein_coding	GEMC1	3q28	geminin coiled-coil domain containing	Predicted to enable chromatin binding activity. Predicted to be involved in DNA replication; negative regulation of DNA replication; and negative regulation of cell cycle. Predicted to act upstream of or within cilium assembly. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
GMNN	chr6	24774931	24786099	+	ENSG00000112312.9	protein_coding	Gem|MGORS6	6p22.3	geminin DNA replication inhibitor	This gene encodes a protein that plays a critical role in cell cycle regulation. The encoded protein inhibits DNA replication by binding to DNA replication factor Cdt1, preventing the incorporation of minichromosome maintenance proteins into the pre-replication complex. The encoded protein is expressed during the S and G2 phases of the cell cycle and is degraded by the anaphase-promoting complex during the metaphase-anaphase transition. Increased expression of this gene may play a role in several malignancies including colon, rectal and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and two pseudogenes of this gene are located on the short arm of chromosome 16. [provided by RefSeq, Oct 2011]
GMPPA	chr2	219498867	219506989	+	ENSG00000144591.18	protein_coding	AAMR	2q35	GDP-mannose pyrophosphorylase A	This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]
GMPPB	chr3	49716844	49723951	-	ENSG00000173540.12	protein_coding	LGMDR19|MDDGA14|MDDGB14|MDDGC14	3p21.31	GDP-mannose pyrophosphorylase B	This gene is thought to encode a GDP-mannose pyrophosphorylase. The encoded protein catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, a reaction involved in the production of N-linked oligosaccharides. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2009]
GMPR	chr6	16238580	16295549	+	ENSG00000137198.9	protein_coding	GMPR 1|GMPR1	6p22.3	guanosine monophosphate reductase	This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides.[provided by RefSeq, Oct 2009]
GMPR2	chr14	24232422	24239242	+	ENSG00000100938.17	protein_coding	GMPR 2	14q12	guanosine monophosphate reductase 2	This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of guanosine monophosphate (GMP) to inosine monophosphate (IMP). The protein also functions in the re-utilization of free intracellular bases and purine nucleosides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]
GNA11	chr19	3094410	3124004	+	ENSG00000088256.8	protein_coding	FBH|FBH2|FHH2|GNA-11|HG1K|HHC2|HYPOC2	19p13.3	G protein subunit alpha 11	The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]
GNA12	chr7	2728112	2844324	-	ENSG00000146535.13	protein_coding	HG1M1|NNX3|RMP|gep	7p22.3-p22.2	G protein subunit alpha 12	Ubiquitous expression in placenta (RPKM 20.5), ovary (RPKM 16.5) and 25 other tissues
GNA13	chr17	65010715	65056839	-	ENSG00000120063.9	protein_coding	G13|HG1N	17q24.1	G protein subunit alpha 13	Ubiquitous expression in bone marrow (RPKM 46.2), lymph node (RPKM 22.6) and 24 other tissues
GNA15	chr19	3136193	3163769	+	ENSG00000060558.3	protein_coding	GNA16|HG1L	19p13.3	G protein subunit alpha 15	Biased expression in esophagus (RPKM 28.1), bone marrow (RPKM 27.9) and 13 other tissues
GNAI1	chr7	80133955	80219402	+	ENSG00000127955.15	protein_coding	Gi|HG1B	7q21.11	G protein subunit alpha i1	Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The alpha subunit binds guanine nucleotide, can hydrolyze GTP, and can interact with other proteins. The protein encoded by this gene represents the alpha subunit of an inhibitory complex. The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
GNAI2	chr3	50226292	50259355	+	ENSG00000114353.16	protein_coding	GIP|GNAI2B|HG1C|H_LUCA15.1|H_LUCA16.1	3p21.31	G protein subunit alpha i2	The protein encoded by this gene is an alpha subunit of guanine nucleotide binding proteins (G proteins). The encoded protein contains the guanine nucleotide binding site and is involved in the hormonal regulation of adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
GNAI2P2	chr10	78068623	78069538	-	ENSG00000231957.2	processed_pseudogene	-	10q22.3	G protein subunit alpha i2 pseudogene 2	-
GNAI3	chr1	109548611	109618321	+	ENSG00000065135.10	protein_coding	87U6|ARCND1|HG1A	1p13.3	G protein subunit alpha i3	Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling pathways. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes an alpha subunit and belongs to the G-alpha family. Mutation in this gene, resulting in a gly40-to-arg substitution, is associated with auriculocondylar syndrome, and shown to affect downstream targets in the G protein-coupled endothelin receptor pathway. [provided by RefSeq, Jun 2012]
GNAL	chr18	11688956	11885685	+	ENSG00000141404.15	protein_coding	DYT25|HG1O	18p11.21	G protein subunit alpha L	This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
GNAO1	chr16	56191347	56357457	+	ENSG00000087258.14	protein_coding	DEE17|EIEE17|G-ALPHA-o|GNAO|HG1G|HLA-DQB1|NEDIM	16q13	G protein subunit alpha o1	The protein encoded by this gene represents the alpha subunit of the Go heterotrimeric G-protein signal-transducing complex. Defects in this gene are a cause of early-onset epileptic encephalopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
GNAO1-AS1	chr16	 56192617	56194525	-	ENSG00000261439	ncRNA	DKFZP434H168	16q13	GNAO1 antisense RNA 1	-
GNAS	chr20	58839718	58911192	+	ENSG00000087460.24	protein_coding	AHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PITA3|POH|SCG6|SgVI	20q13.32	GNAS complex locus	This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5 exons. Some transcripts contain a differentially methylated region (DMR) at their 5 exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]
GNAT1	chr3	50191612	50196516	+	ENSG00000114349.9	protein_coding	CSNB1G|CSNBAD3|GBT1|GNATR|HG1F	3p21.31	G protein subunit alpha transducin 1	Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]
GNAT2	chr1	109603267	109619929	-	ENSG00000134183.11	protein_coding	ACHM4|GNATC|HG1D	1p13.3	G protein subunit alpha transducin 2	Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008]
GNAZ	chr22	23070361	23125037	+	ENSG00000128266.8	protein_coding	HG1H|gz-alpha	22q11.22-q11.23	G protein subunit alpha z	The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systms. This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids. [provided by RefSeq, Jul 2008]
GNB1	chr1	1785285	1891117	-	ENSG00000078369.17	protein_coding	HG2A|MDS|MRD42	1p36.33	G protein subunit beta 1	Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
GNB1L	chr22	19783224	19854939	-	ENSG00000185838.13	protein_coding	DGCRK3|FKSG1|GY2|WDR14|WDVCF	22q11.21	G protein subunit beta 1 like	This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008]
GNB2	chr7	100673531	100679174	+	ENSG00000172354.9	protein_coding	HG2C1|SSS4|SSS4; NEDHYDF	7q22.1	G protein subunit beta 2	Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene contains a trinucleotide (CCG) repeat length polymorphism in its 5 UTR. [provided by RefSeq, Jul 2008]
GNB3	chr12	6839954	6847393	+	ENSG00000111664.10	protein_coding	CSNB1H|HG2D	12p13.31	G protein subunit beta 3	Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit which belongs to the WD repeat G protein beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]
GNB4	chr3	179396089	179451590	-	ENSG00000114450.9	protein_coding	CMTD1F|HG2B	3q26.33	G protein subunit beta 4	Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. [provided by RefSeq, Jul 2008]
GNG10	chr9	111661335	111670246	+	ENSG00000242616.3	protein_coding	-	9q31.3	G protein subunit gamma 10	-
GNG11	chr7	93921699	93928610	+	ENSG00000127920.5	protein_coding	GNGT11|HG3H1	7q21.3	G protein subunit gamma 11	This gene is a member of the guanine nucleotide-binding protein (G protein) gamma family and encodes a lipid-anchored, cell membrane protein. As a member of the heterotrimeric G protein complex, this protein plays a role in this transmembrane signaling system. This protein is also subject to carboxyl-terminal processing. Decreased expression of this gene is associated with splenic marginal zone lymphomas. [provided by RefSeq, Jul 2008]
GNG12	chr1	67701466	67833467	-	ENSG00000172380.5	protein_coding	HG3A	1p31.3	G protein subunit gamma 12	Ubiquitous expression in duodenum (RPKM 59.3), small intestine (RPKM 55.3) and 24 other tissues
GNG12-AS1	chr1	67832303	68202987	+	ENSG00000232284.7	antisense	-	1p31.3	GNG12, DIRAS3 and WLS antisense RNA 1	-
GNG2	chr14	51826195	51979342	+	ENSG00000186469.8	protein_coding	HG3F1	14q22.1	G protein subunit gamma 2	This gene encodes one of the gamma subunits of a guanine nucleotide-binding protein. Such proteins are involved in signaling mechanisms across membranes. Various subunits forms heterodimers which then interact with the different signal molecules. [provided by RefSeq, Aug 2011]
GNG3	chr11	62707658	62709201	+	ENSG00000162188.5	protein_coding	HG3D	11q12.3	G protein subunit gamma 3	Guanine nucleotide binding proteins are heterotrimeric signal-transducing molecules consisting of alpha, beta, and gamma subunits. The gamma subunit determines the specificity of which signaling pathways will be affected by this particular complex. The protein encoded by this gene represents the gamma subunit of both inhibitory and stimulatory complexes. [provided by RefSeq, Jan 2012]
GNG4	chr1	235547687	235650754	-	ENSG00000168243.10	protein_coding	HG3C	1q42.3	G protein subunit gamma 4	Predicted to enable G-protein beta-subunit binding activity. Involved in negative regulation of cell growth. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
GNG5	chr1	84498325	84506565	-	ENSG00000174021.10	protein_coding	-	1p22.3	G protein subunit gamma 5	Ubiquitous expression in colon (RPKM 64.2), bone marrow (RPKM 52.7) and 25 other tissues
GNG7	chr19	2511219	2702709	-	ENSG00000176533.12	protein_coding	HG3B	19p13.3	G protein subunit gamma 7	Ubiquitous expression in brain (RPKM 18.8), heart (RPKM 10.5) and 22 other tissues
GNG8	chr19	46634076	46634685	-	ENSG00000167414.4	protein_coding	HG3E	19q13.32	G protein subunit gamma 8	Predicted to enable G-protein beta-subunit binding activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Predicted to act upstream of or within cellular response to pheromone; nose development; and social behavior. Predicted to be located in plasma membrane. Predicted to be part of heterotrimeric G-protein complex. [provided by Alliance of Genome Resources, Apr 2022]
GNGT2	chr17	49202791	49210574	-	ENSG00000167083.6	protein_coding	G-GAMMA-8|G-GAMMA-C|GNG9|GNGT8|HG3I	17q21.32	G protein subunit gamma transducin 2	Phototransduction in rod and cone photoreceptors is regulated by groups of signaling proteins. The encoded protein is thought to play a crucial role in cone phototransduction. It belongs to the G protein gamma family and localized specifically in cones. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2010]
GNL1	chr6	30541377	30557174	-	ENSG00000204590.12	protein_coding	HSR1	6p21.33	G protein nucleolar 1 (putative)	The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. GNL1 is telomeric to HLA-B and HLA-C. [provided by RefSeq, Jul 2008]
GNL2P1	chr7	49942251	49944440	-	ENSG00000223893.1	processed_pseudogene	-	7p12.2	G protein nucleolar 2 pseudogene 1	-
GNL3	chr3	52681156	52694492	+	ENSG00000163938.16	protein_coding	C77032|E2IG3|NNP47|NS	3p21.1	G protein nucleolar 3	The protein encoded by this gene may interact with p53 and may be involved in tumorigenesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
GNL3L	chrX	54530211	54561071	+	ENSG00000130119.15	protein_coding	GNL3B	Xp11.22	G protein nucleolar 3 like	The protein encoded by this gene appears to be a nucleolar GTPase that is essential for ribosomal pre-rRNA processing and cell proliferation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
GNL3LP1	chr5	60891935	60893577	-	ENSG00000215032.2	processed_pseudogene	GNL3LP	5q12.1	G protein nucleolar 3 like pseudogene 1	-
GNMT	chr6	42960758	42963880	+	ENSG00000124713.5	protein_coding	HEL-S-182mP	6p21.1	glycine N-methyltransferase	The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between the upstream CNPY3 (canopy FGF signaling regulator 3) gene and this gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]
GNPDA1	chr5	141991749	142013041	-	ENSG00000113552.15	protein_coding	GNP1|GNPDA|GNPI|GPI|HLN	5q31.3	glucosamine-6-phosphate deaminase 1	Glucosamine-6-phosphate deaminase (EC 3.5.99.6) is an allosteric enzyme that catalyzes the reversible conversion of D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium (Arreola et al., 2003 [PubMed 12965206]).[supplied by OMIM, Jan 2010]
GNPNAT1	chr14	52775194	52791668	-	ENSG00000100522.8	protein_coding	GNA1|GNPNAT|Gpnat1	14q22.1	glucosamine-phosphate N-acetyltransferase 1	Ubiquitous expression in liver (RPKM 17.9), colon (RPKM 9.0) and 25 other tissues
GNPTAB	chr12	101745497	101830938	-	ENSG00000111670.14	protein_coding	GNPTA|ICD	12q23.2	N-acetylglucosamine-1-phosphate transferase subunits alpha and beta	This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]
GNPTG	chr16	1351923	1364113	+	ENSG00000090581.9	protein_coding	C16orf27|GNPTAG|LP2537|RJD9	16p13.3	N-acetylglucosamine-1-phosphate transferase subunit gamma	This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]
GNRH1	chr8	25419260	25424654	-	ENSG00000147437.9	protein_coding	GNRH|GRH|LHRH|LNRH	8p21.2	gonadotropin releasing hormone 1	This gene encodes a preproprotein that is proteolytically processed to generate a peptide that is a member of the gonadotropin-releasing hormone (GnRH) family of peptides. Alternative splicing results in multiple transcript variants, at least one of which is secreted and then cleaved to generate gonadoliberin-1 and GnRH-associated peptide 1. Gonadoliberin-1 stimulates the release of luteinizing and follicle stimulating hormones, which are important for reproduction. Mutations in this gene are associated with hypogonadotropic hypogonadism. [provided by RefSeq, Nov 2015]
GNRHR	chr4	67739328	67754360	-	ENSG00000109163.6	protein_coding	GNRHR1|GRHR|HH7|LHRHR|LRHR	4q13.2	gonadotropin releasing hormone receptor	This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5 region and multiple polyA signals in the 3 region have been identified for this gene. [provided by RefSeq, Jul 2008]
GNRHR2	chr1	145919013	145925341	+	ENSG00000211451.12	transcribed_unitary_pseudogene	GnRH-II-R	1q21.1	gonadotropin releasing hormone receptor 2 (pseudogene)	In non-hominoid primates and non-mammalian vertebrates, the gonadotropin releasing hormone 2 receptor gene (GnRHR2) encodes a seven-transmembrane G-protein coupled receptor. However, in human, the corresponding reading frame contains a premature stop codon, which has been suggested to encode a selenocysteine residue, but there is no solid evidence for selenocysteine incorporation (PMID: 12538601). It appears that the human GnRHR2 transcription occurs but the gene does not likely produce a functional multi-transmembrane protein. A non-transcribed pseudogene of GnRHR2 is located on chromosome 14. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2013]
GNS	chr12	64713445	64759447	-	ENSG00000135677.10	protein_coding	G6S	12q14.3	glucosamine (N-acetyl)-6-sulfatase	The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]
GOLGA1	chr9	124878357	124948492	-	ENSG00000136935.13	protein_coding	golgin-97	9q33.3	golgin A1	The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein is associated with Sjogrens syndrome. [provided by RefSeq, Feb 2010]
GOLGA2	chr9	128255829	128275995	-	ENSG00000167110.17	protein_coding	GM130	9q34.11	golgin A2	The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010]
GOLGA2P10	chr15	82472993	82513950	-	ENSG00000255769.7	transcribed_unprocessed_pseudogene	-	15q25.2	GOLGA2 pseudogene 10	-
GOLGA2P11	chr15	62253730	62270680	-	ENSG00000260062.3	transcribed_unprocessed_pseudogene	-	15q22.2	GOLGA2 pseudogene 11	-
GOLGA2P5	chr12	100156357	100173659	-	ENSG00000238105.7	transcribed_unprocessed_pseudogene	GOLGA2B|GOLGA2L1	12q23.1	GOLGA2 pseudogene 5	Broad expression in testis (RPKM 4.5), duodenum (RPKM 2.8) and 24 other tissues
GOLGA2P7	chr15	84199311	84230136	-	ENSG00000225151.10	transcribed_unprocessed_pseudogene	-	15q25.2	GOLGA2 pseudogene 7	-
GOLGA3	chr12	132768909	132828858	-	ENSG00000090615.14	protein_coding	GCP170|MEA-2	12q24.33	golgin A3	The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes a member of the golgin family of proteins which are localized to the Golgi. Its encoded protein has been postulated to play a role in nuclear transport and Golgi apparatus localization. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Feb 2010]
GOLGA4	chr3	37243177	37366751	+	ENSG00000144674.16	protein_coding	CRPF46|GCP2|GOLG|MU-RMS-40.18|p230	3p22.2	golgin A4	The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This protein has been postulated to play a role in Rab6-regulated membrane-tethering events in the Golgi apparatus. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]
GOLGA5	chr14	92794231	92839963	+	ENSG00000066455.12	protein_coding	GOLIM5|RFG5|ret-II	14q32.12	golgin A5	The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This protein is a coiled-coil membrane protein that has been postulated to play a role in vesicle tethering and docking. Translocations involving this gene and the ret proto-oncogene have been found in tumor tissues; the chimeric sequences have been designated RET-II and PTC5. A pseudogene of this gene is located on the short arm of chromosome 5. [provided by RefSeq, Jul 2013]
GOLGA6A	chr15	74069857	74082550	-	ENSG00000159289.6	protein_coding	GLP|GOLGA6	15q24.1	golgin A6 family member A	The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The protein encoded by this gene is a member of the golgin family of proteins, whose members localize to the Golgi. This gene is found in a large, low copy repeat sequence or duplicon that is found in multiple copies, that are greather than 90% similar, on chromosome 15. Duplicons are associated with deletions, inversions and other chromosome rearrangements that underlie genomic disease. The protein encoded by this gene is thought to be a functional golgin protein while the majority of the related copies of this gene are thought to be transcribed pseudogenes. [provided by RefSeq, Jul 2008]
GOLGA6C	chr15	75258599	75270199	+	ENSG00000167195.7	protein_coding	-	15q24.2	golgin A6 family member C	-
GOLGA6L10	chr15	82339998	82349475	-	ENSG00000278662.4	protein_coding	GOLGA6L18	15q25.2	golgin A6 family like 10	Broad expression in testis (RPKM 11.0), skin (RPKM 5.4) and 24 other tissues
GOLGA6L17P	chr15	82519590	82526412	+	ENSG00000277741.4	transcribed_unprocessed_pseudogene	GOLGA6L21P	15q25.2	golgin A6 family like 17, pseudogene	Broad expression in testis (RPKM 11.9), ovary (RPKM 4.9) and 23 other tissues
GOLGA6L3	chr15	85240472	85247170	+	ENSG00000188388.10	unprocessed_pseudogene	-	15q25.3	golgin A6 family like 3	-
GOLGA6L4	chr15	84235773	84245368	+	ENSG00000184206.11	protein_coding	-	15q25.2	golgin A6 family like 4	-
GOLGA6L5P	chr15	84507885	84516814	-	ENSG00000230373.8	transcribed_unprocessed_pseudogene	GOLGA6L5|GOLGA6L8	15q25.2	golgin A6 family like 5, pseudogene	-
GOLGA6L9	chr15	82430018	82439153	+	ENSG00000197978.9	protein_coding	GOLGA6L20	15q25.2	golgin A6 family like 9	Broad expression in testis (RPKM 10.2), skin (RPKM 7.1) and 25 other tissues
GOLGA7	chr8	41490396	41510980	+	ENSG00000147533.16	protein_coding	GCP16|GOLGA3AP1|GOLGA7A|HSPC041	8p11.21	golgin A7	Ubiquitous expression in brain (RPKM 33.3), testis (RPKM 26.7) and 25 other tissues
GOLGA8A	chr15	34379068	34437466	-	ENSG00000175265.17	protein_coding	CFAP286|FAP286|GM88|GOLGA8B	15q14	golgin A8 family member A	The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked, flattened membrane sacs referred to as cisternae. Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The golgins constitute a family of proteins which are localized to the Golgi. This gene encodes a golgin which structurally resembles its family member GOLGA2, suggesting that they may share a similar function. There are many similar copies of this gene on chromosome 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
GOLGA8B	chr15	34525207	34588503	-	ENSG00000215252.11	protein_coding	GOLGA5	15q14	golgin A8 family member B	Ubiquitous expression in thyroid (RPKM 78.1), testis (RPKM 47.6) and 24 other tissues
GOLGA8F	chr15	28378621	28392018	+	ENSG00000153684.14	protein_coding	-	15q13.1	golgin A8 family member F	Restricted expression toward testis (RPKM 35.6)
GOLGA8H	chr15	30604126	30614561	+	ENSG00000261794.1	protein_coding	GOLGA6L11	15q13.2	golgin A8 family member H	Broad expression in thyroid (RPKM 12.2), testis (RPKM 12.1) and 25 other tissues
GOLGA8K	chr15	32392782	32403292	-	ENSG00000249931.4	protein_coding	-	15q13.3	golgin A8 family member K	Broad expression in thyroid (RPKM 19.0), testis (RPKM 15.0) and 25 other tissues
GOLGA8N	chr15	32593456	32607310	+	ENSG00000232653.8	protein_coding	GOLGA8R	15q13.3	golgin A8 family member N	Note: In Annotation Release 105, it was noticed GOLGA8R and GOLGA8N were placed at the wrong locations, though they were placed at the correct locations in earlier releases. The error was fixed in December 2013 by renaming GeneID: 643699 as GOLGA8N and GeneID: 101059918 as GOLGA8R. [17 Jun 2014]
GOLGA8R	chr15	30403740	30414162	-	ENSG00000186399.10	protein_coding	-	15q13.2	golgin A8 family member R	Broad expression in thyroid (RPKM 31.7), testis (RPKM 15.6) and 25 other tissues
GOLGB1	chr3	121663199	121749767	-	ENSG00000173230.15	protein_coding	GCP|GCP372|GOLIM1	3q13.33	golgin B1	Ubiquitous expression in thyroid (RPKM 16.1), prostate (RPKM 15.7) and 25 other tissues
GOLIM4	chr3	168008677	168095975	-	ENSG00000173905.8	protein_coding	GIMPC|GOLPH4|GPP130|P138	3q26.2	golgi integral membrane protein 4	The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi-resident protein. It may process proteins synthesized in the rough endoplasmic reticulum and assist in the transport of protein cargo through the Golgi apparatus. [provided by RefSeq, Jul 2008]
GOLM1	chr9	86026146	86100173	-	ENSG00000135052.16	protein_coding	C9orf155|GOLPH2|GP73|HEL46|PSEC0257|bA379P1.3	9q21.33	golgi membrane protein 1	The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi transmembrane protein. It processes proteins synthesized in the rough endoplasmic reticulum and assists in the transport of protein cargo through the Golgi apparatus. The expression of this gene has been observed to be upregulated in response to viral infection. Alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Sep 2009]
GOLM2	chr15	 44288719	44415758	+	ENSG00000166734	protein-coding	CASC4|H63	15q15.3	golgi membrane protein 2	-
GOLPH3	chr5	32124704	32174350	-	ENSG00000113384.13	protein_coding	GOPP1|GPP34|MIDAS|Vps74	5p13.3	golgi phosphoprotein 3	The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a peripheral membrane protein of the Golgi stack and may have a regulatory role in Golgi trafficking. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Jul 2008]
GOLPH3L	chr1	150646225	150697144	-	ENSG00000143457.10	protein_coding	GPP34R	1q21.3	golgi phosphoprotein 3 like	The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is localized at the Golgi stack and may have a regulatory role in Golgi trafficking. [provided by RefSeq, Jul 2008]
GOLT1A	chr1	204198160	204214092	-	ENSG00000174567.7	protein_coding	CGI-141|GOT1|HMFN1187|YMR292W|hGOT1b	1q32.1	golgi transport 1A	Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport. Located in Golgi apparatus subcompartment; endoplasmic reticulum; and nuclear envelope. [provided by Alliance of Genome Resources, Apr 2022]
GOLT1B	chr12	21501781	21518408	+	ENSG00000111711.9	protein_coding	CGI-141|GCT2|GOT1|GOT1B|YMR292W	12p12.1	golgi transport 1B	Ubiquitous expression in placenta (RPKM 8.4), adrenal (RPKM 8.0) and 25 other tissues
GON4L	chr1	155749662	155859400	-	ENSG00000116580.18	protein_coding	GON-4|GON4|YARP	1q22	gon-4 like	Ubiquitous expression in testis (RPKM 11.0), spleen (RPKM 8.9) and 25 other tissues
GON7	chr14	93202894	93207094	-	ENSG00000170270.4	protein_coding	C14orf142|PNAS-127	14q32.12	GON7 subunit of KEOPS complex	Ubiquitous expression in colon (RPKM 9.4), kidney (RPKM 8.3) and 25 other tissues
GOPC	chr6	117560269	117602542	-	ENSG00000047932.13	protein_coding	CAL|FIG|GOPC1|PIST|dJ94G16.2	6q22.1	golgi associated PDZ and coiled-coil motif containing	This gene encodes a Golgi protein with a PDZ domain. The PDZ domain is globular and proteins which contain them bind other proteins through short motifs near the C-termini. Mice which are deficient in the orthologous protein have globozoospermia and are infertile. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
GORAB	chr1	170532129	170553446	+	ENSG00000120370.12	protein_coding	GO|NTKLBP1|SCYL1BP1	1q24.2	golgin, RAB6 interacting	This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
GORASP1	chr3	39096659	39108363	-	ENSG00000114745.13	protein_coding	GOLPH5|GRASP65|P65	3p22.2	golgi reassembly stacking protein 1	The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a membrane protein involved in establishing the stacked structure of the Golgi apparatus. It is a caspase-3 substrate, and cleavage of this encoded protein contributes to Golgi fragmentation in apoptosis. This encoded protein can form a complex with the Golgi matrix protein GOLGA2, and this complex binds to the vesicle docking protein p115. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
GORASP2	chr2	170928464	170967129	+	ENSG00000115806.12	protein_coding	GOLPH6|GRASP55|GRS2|p59	2q31.1	golgi reassembly stacking protein 2	This gene encodes a member of the Golgi reassembly stacking protein family. These proteins may play a role in the stacking of Golgi cisternae and Golgi ribbon formation, as well as Golgi fragmentation during apoptosis or mitosis. The encoded protein also plays a role in the intracellular transport of transforming growth factor alpha and may function as a molecular chaperone. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
GOSR1	chr17	30477362	30527592	+	ENSG00000108587.15	protein_coding	GOLIM2|GOS-28|GOS28|GOS28/P28|GS28|P28	17q11.2	golgi SNAP receptor complex member 1	This gene encodes a trafficking membrane protein which transports proteins among the endoplasmic reticulum and the Golgi and between Golgi compartments. This protein is considered an essential component of the Golgi SNAP receptor (SNARE) complex. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GOSR2	chr17	46923075	46975524	+	ENSG00000108433.16	protein_coding	Bos1|EPM6|GS27	17q21.32	golgi SNAP receptor complex member 2	This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. [provided by RefSeq, Mar 2016]
GOT1	chr10	99396870	99430624	-	ENSG00000120053.10	protein_coding	AST1|ASTQTL1|GIG18|cAspAT|cCAT	10q24.2	glutamic-oxaloacetic transaminase 1	Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively.  GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. [provided by RefSeq, Jul 2008]
GOT1L1	chr8	37934281	37940129	-	ENSG00000169154.5	protein_coding	-	8p11.23	glutamic-oxaloacetic transaminase 1 like 1	-
GOT2	chr16	58707131	58734357	-	ENSG00000125166.12	protein_coding	DEE82|KAT4|KATIV|KYAT4|mitAAT	16q21	glutamic-oxaloacetic transaminase 2	Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
GOT2P3	chr12	9641723	9643011	+	ENSG00000233719.4	transcribed_processed_pseudogene	GOT2L3|GOT2L3P	12p13.31	GOT2 pseudogene 3	-
GP1BA	chr17	4932297	4935030	+	ENSG00000185245.7	protein_coding	BDPLT1|BDPLT3|BSS|CD42B|CD42b-alpha|DBPLT3|GP1B|GPIbA|GPIbalpha|VWDP	17p13.2	glycoprotein Ib platelet subunit alpha	Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]
GP6	chr19	55013705	55038264	-	ENSG00000088053.11	protein_coding	BDPLT11|GPIV|GPVI	19q13.42	glycoprotein VI platelet	This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation. The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
GP9	chr3	129060767	129062406	+	ENSG00000169704.4	protein_coding	CD42a|GPIX	3q21.3	glycoprotein IX platelet	This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. [provided by RefSeq, Oct 2008]
GPAA1	chr8	144082590	144086216	+	ENSG00000197858.10	protein_coding	GAA1|GPIBD15|hGAA1	8q24.3	glycosylphosphatidylinositol anchor attachment 1	Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. [provided by RefSeq, Jul 2008]
GPAM	chr10	112149864	112215377	-	ENSG00000119927.13	protein_coding	GPAT|GPAT1	10q25.2	glycerol-3-phosphate acyltransferase, mitochondrial	This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathways first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
GPANK1	chr6	31661229	31666283	-	ENSG00000204438.10	protein_coding	ANKRD59|BAT4|D6S54E|G5|GPATCH10	6p21.33	G-patch domain and ankyrin repeats 1	This gene is located in a cluster of HLA-B-associated transcripts, which is included in the human major histocompatability complex III region. This gene encodes a protein which is thought to play a role in immunity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2010]
GPAT2	chr2	96021946	96039451	-	ENSG00000186281.12	protein_coding	CT123	2q11.2	glycerol-3-phosphate acyltransferase 2, mitochondrial	Broad expression in testis (RPKM 7.1), spleen (RPKM 3.6) and 22 other tissues
GPAT2P1	chr2	95789654	95800166	+	ENSG00000237510.7	transcribed_unprocessed_pseudogene	-	2q11.1	glycerol-3-phosphate acyltransferase 2 pseudogene 1	-
GPAT4	chr8	41577187	41625001	+	ENSG00000158669.11	protein_coding	1-AGPAT 6|AGPAT6|LPAAT-zeta|LPAATZ|TSARG7	8p11.21	glycerol-3-phosphate acyltransferase 4	Lysophosphatidic acid acyltransferases (EC 2.3.1.51) catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA). LPA and PA are involved in signal transduction and lipid biosynthesis.[supplied by OMIM, Apr 2004]
GPATCH1	chr19	33080880	33130542	+	ENSG00000076650.6	protein_coding	ECGP|GPATC1	19q13.11	G-patch domain containing 1	Ubiquitous expression in ovary (RPKM 3.8), testis (RPKM 3.4) and 25 other tissues
GPATCH11	chr2	37084451	37099244	+	ENSG00000152133.14	protein_coding	CCDC75|CENP-Y|CENPY	2p22.2	G-patch domain containing 11	Ubiquitous expression in fat (RPKM 17.4), testis (RPKM 7.9) and 23 other tissues
GPATCH2	chr1	217426992	217631082	-	ENSG00000092978.10	protein_coding	CT110|GPATC2|PPP1R30|Pfa1	1q41	G-patch domain containing 2	The gene encodes a nuclear factor that may play a role in spermatogenesis and in tumor growth during breast cancer. The encoded protein contains a G-patch domain with an RNA binding motif. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
GPATCH2L	chr14	76151916	76254342	+	ENSG00000089916.17	protein_coding	C14orf118	14q24.3	G-patch domain containing 2 like	Ubiquitous expression in bone marrow (RPKM 2.9), testis (RPKM 2.4) and 25 other tissues
GPATCH3	chr1	26890488	26900466	-	ENSG00000198746.12	protein_coding	GPATC3	1p36.11	G-patch domain containing 3	Ubiquitous expression in bone marrow (RPKM 7.1), testis (RPKM 5.8) and 25 other tissues
GPATCH4	chr1	156594487	156601496	-	ENSG00000160818.16	protein_coding	GPATC4	1q22-q23.1	G-patch domain containing 4	Annotation category: suggests misassembly
GPATCH8	chr17	44395284	44503430	-	ENSG00000186566.12	protein_coding	GPATC8|KIAA0553	17q21.31	G-patch domain containing 8	The protein encoded by this gene contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought to be associated with hyperuricemia (PMID: 21594610). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
GPBAR1	chr2	218259496	218263859	+	ENSG00000179921.14	protein_coding	BG37|GPCR19|GPR131|M-BAR|TGR5	2q35	G protein-coupled bile acid receptor 1	This gene encodes a member of the G protein-coupled receptor (GPCR) superfamily. This enzyme functions as a cell surface receptor for bile acids. Treatment of cells expressing this GPCR with bile acids induces the production of intracellular cAMP, activation of a MAP kinase signaling pathway, and internalization of the receptor. The receptor is implicated in the suppression of macrophage functions and regulation of energy homeostasis by bile acids. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
GPBP1	chr5	57173948	57264679	+	ENSG00000062194.15	protein_coding	GPBP|SSH6|VASCULIN	5q11.2	GC-rich promoter binding protein 1	This gene was originally isolated by subtractive hybridization of cDNAs expressed in atherosclerotic plaques with a thrombus, and was found to be expressed only in vascular smooth muscle cells. However, a shorter splice variant was found to be more ubiquitously expressed. This protein is suggested to play a role in the development of atherosclerosis. Studies in mice suggest that it may also function as a GC-rich promoter-specific trans-activating transcription factor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
GPBP1L1	chr1	45627304	45688113	-	ENSG00000159592.10	protein_coding	SP192	1p34.1	GC-rich promoter binding protein 1 like 1	Ubiquitous expression in testis (RPKM 44.4), thyroid (RPKM 35.1) and 25 other tissues
GPC1	chr2	240435671	240468078	+	ENSG00000063660.8	protein_coding	glypican	2q37.3	glypican 1	Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage.  These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]
GPC2	chr7	100169606	100177372	-	ENSG00000213420.7	protein_coding	-	7q22.1	glypican 2	-
GPC5	chr13	91398607	92873682	+	ENSG00000179399.14	protein_coding	-	13q31.3	glypican 5	Biased expression in brain (RPKM 1.8), testis (RPKM 1.4) and 7 other tissues
GPC6	chr13	93226842	94407401	+	ENSG00000183098.10	protein_coding	OMIMD1	13q31.3-q32.1	glypican 6	The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Mutations in this gene are associated with omodysplasia 1. [provided by RefSeq, Nov 2016]
GPC6-AS1	chr13	94154193	94187991	-	ENSG00000236520.2	antisense	-	13q31.3	GPC6 antisense RNA 1	-
GPCPD1	chr20	5544404	5611026	-	ENSG00000125772.12	protein_coding	EDI3|GDE5|GDPD6|PREI4	20p12.3	glycerophosphocholine phosphodiesterase 1	Ubiquitous expression in bone marrow (RPKM 31.5), spleen (RPKM 13.3) and 24 other tissues
GPD1	chr12	50103819	50111319	+	ENSG00000167588.12	protein_coding	GPD-C|GPDH-C|HTGTI	12q13.12	glycerol-3-phosphate dehydrogenase 1	This gene encodes a member of the NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible conversion of dihydroxyacetone phosphate (DHAP) and reduced nicotine adenine dinucleotide (NADH) to glycerol-3-phosphate (G3P) and NAD+. The encoded cytosolic protein and mitochondrial glycerol-3-phosphate dehydrogenase also form a glycerol phosphate shuttle that facilitates the transfer of reducing equivalents from the cytosol to mitochondria. Mutations in this gene are a cause of transient infantile hypertriglyceridemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
GPD1L	chr3	32105689	32168713	+	ENSG00000152642.10	protein_coding	GPD1-L	3p22.3	glycerol-3-phosphate dehydrogenase 1 like	The protein encoded by this gene catalyzes the conversion of sn-glycerol 3-phosphate to glycerone phosphate. The encoded protein is found in the cytoplasm, associated with the plasma membrane, where it binds the sodium channel, voltage-gated, type V, alpha subunit (SCN5A). Defects in this gene are a cause of Brugada syndrome type 2 (BRS2) as well as sudden infant death syndrome (SIDS). [provided by RefSeq, Jul 2010]
GPD2	chr2	156435290	156613735	+	ENSG00000115159.15	protein_coding	GDH2|GPDM|mGDH|mGPDH	2q24.1	glycerol-3-phosphate dehydrogenase 2	The protein encoded by this gene localizes to the inner mitochondrial membrane and catalyzes the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, using FAD as a cofactor. Along with GDP1, the encoded protein constitutes the glycerol phosphate shuttle, which reoxidizes NADH formed during glycolysis. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010]
GPER1	chr7	1082208	1093815	+	ENSG00000164850.14	protein_coding	CEPR|CMKRL2|DRY12|FEG-1|GPCR-Br|GPER|GPR30|LERGU|LERGU2|LyGPR|mER	7p22.3	G protein-coupled estrogen receptor 1	This gene encodes a multi-pass membrane protein that localizes to the endoplasmic reticulum and a member of the G-protein coupled receptor 1 family. This receptor binds estrogen and activates multiple downstream signaling pathways, leading to stimulation of adenylate cyclase and an increase in cyclic AMP levels, while also promoting intracellular calcium mobilization and synthesis of phosphatidylinositol 3,4,5-trisphosphate in the nucleus. This protein therefore plays a role in the rapid nongenomic signaling events widely observed following stimulation of cells and tissues with estrogen. This receptor has been shown to play a role in diverse biological processes, including bone and nervous system development, metabolism, cognition, male fertility and uterine function. [provided by RefSeq, Aug 2017]
GPHA2	chr11	64934471	64935888	-	ENSG00000149735.6	protein_coding	A2|GPA2|ZSIG51	11q13.1	glycoprotein hormone subunit alpha 2	GPHA2 is a cystine knot-forming polypeptide and a subunit of the dimeric glycoprotein hormone family (Hsu et al., 2002 [PubMed 12089349]).[supplied by OMIM, Mar 2008]
GPI	chr19	34359480	34402156	+	ENSG00000105220.14	protein_coding	AMF|GNPI|NLK|PGI|PHI|SA-36|SA36	19q13.11	glucose-6-phosphate isomerase	This gene encodes a member of the glucose phosphate isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In the cytoplasm, the gene product functions as a glycolytic enzyme (glucose-6-phosphate isomerase) that interconverts glucose-6-phosphate and fructose-6-phosphate. Extracellularly, the encoded protein (also referred to as neuroleukin) functions as a neurotrophic factor that promotes survival of skeletal motor neurons and sensory neurons, and as a lymphokine that induces immunoglobulin secretion. The encoded protein is also referred to as autocrine motility factor based on an additional function as a tumor-secreted cytokine and angiogenic factor. Defects in this gene are the cause of nonspherocytic hemolytic anemia and a severe enzyme deficiency can be associated with hydrops fetalis, immediate neonatal death and neurological impairment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
GPIHBP1	chr8	143213193	143217170	+	ENSG00000277494.1	protein_coding	GPI-HBP1|HYPL1D	8q24.3	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	This gene encodes a capillary endothelial cell protein that facilitates the lipolytic processing of triglyceride-rich lipoproteins. The encoded protein is a glycosylphosphatidylinositol-anchored protein that is a member of the lymphocyte antigen 6 (Ly6) family. This protein plays a major role in transporting lipoprotein lipase (LPL) from the subendothelial spaces to the capillary lumen. Mutations in this gene are the cause of hyperlipoproteinemia, type 1D. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
GPLD1	chr6	24424565	24495205	-	ENSG00000112293.14	protein_coding	GPIPLD|GPIPLDM|PIGPLD|PIGPLD1|PLD	6p22.3	glycosylphosphatidylinositol specific phospholipase D1	Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008]
GPM6A	chr4	175632934	176002664	-	ENSG00000150625.16	protein_coding	GPM6|M6A	4q34.2	glycoprotein M6A	Predicted to enable calcium channel activity. Involved in neuron migration and stem cell differentiation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
GPN1	chr2	27628247	27651508	+	ENSG00000198522.13	protein_coding	ATPBD1A|MBDIN|NTPBP|RPAP4|XAB1	2p23.3	GPN-loop GTPase 1	This gene encodes a guanosine triphosphatase enzyme. The encoded protein may play a role in DNA repair and may function in activation of transcription. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
GPN2	chr1	26876133	26890297	-	ENSG00000142751.14	protein_coding	ATPBD1B	1p36.11	GPN-loop GTPase 2	Ubiquitous expression in spleen (RPKM 6.7), duodenum (RPKM 6.2) and 25 other tissues
GPN3	chr12	110452484	110469268	-	ENSG00000111231.8	protein_coding	ATPBD1C	12q24.11	GPN-loop GTPase 3	Ubiquitous expression in testis (RPKM 19.7), fat (RPKM 10.4) and 25 other tissues
GPNMB	chr7	23235967	23275108	+	ENSG00000136235.15	protein_coding	HGFIN|NMB|PLCA3	7p15.3	glycoprotein nmb	The protein encoded by this gene is a type I transmembrane glycoprotein which shows homology to the pMEL17 precursor, a melanocyte-specific protein. GPNMB shows expression in the lowly metastatic human melanoma cell lines and xenografts but does not show expression in the highly metastatic cell lines. GPNMB may be involved in growth delay and reduction of metastatic potential. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GPR1-AS	chr2	206203376	206266243	+	ENSG00000279220.1	processed_transcript	GPR1-AS1|GPR1AS	2q33.3	GPR1 antisense RNA	This gene is thought to produce a non-coding RNA. It is situated adjacent to a differentially methylated region (DMR) and is imprinted and paternally expressed in the placenta. [provided by RefSeq, Nov 2015]
GPR108	chr19	6729914	6737603	-	ENSG00000125734.15	protein_coding	LUSTR2	19p13.3	G protein-coupled receptor 108	Ubiquitous expression in thyroid (RPKM 21.4), duodenum (RPKM 17.0) and 25 other tissues
GPR12	chr13	26755200	26760785	-	ENSG00000132975.7	protein_coding	GPCR12|GPCR21|PPP1R84	13q12.13	G protein-coupled receptor 12	Biased expression in brain (RPKM 3.0) and salivary gland (RPKM 0.6)
GPR135	chr14	59429022	59465342	-	ENSG00000181619.11	protein_coding	HUMNPIIY20	14q23.1	G protein-coupled receptor 135	Broad expression in testis (RPKM 3.7), ovary (RPKM 1.1) and 20 other tissues
GPR137	chr11	64270062	64289500	+	ENSG00000173264.14	protein_coding	C11orf4|GPR137A|TM7SF1L1	11q13.1	G protein-coupled receptor 137	Broad expression in testis (RPKM 30.3), brain (RPKM 9.0) and 24 other tissues
GPR137B	chr1	236142505	236221865	+	ENSG00000077585.13	protein_coding	TM7SF1	1q42.3	G protein-coupled receptor 137B	Involved in several processes, including positive regulation of TORC1 signaling; positive regulation of protein localization to lysosome; and regulation of GTPase activity. Located in lysosomal membrane. [provided by Alliance of Genome Resources, Apr 2022]
GPR141	chr7	37683796	37833788	+	ENSG00000187037.8	protein_coding	PGR13	7p14.1	G protein-coupled receptor 141	GPR141 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008]
GPR146	chr7	1044576	1059261	+	ENSG00000164849.9	protein_coding	PGR8	7p22.3	G protein-coupled receptor 146	Broad expression in fat (RPKM 14.9), lung (RPKM 4.6) and 18 other tissues
GPR151	chr5	146513103	146516190	-	ENSG00000173250.2	protein_coding	GALR4|GALRL|GPCR|GPCR-2037|PGR7	5q32	G protein-coupled receptor 151	This gene encodes an orphan member of the class A rhodopsin-like family of G-protein-coupled receptors (GPCRs). Within the rhodopsin-like family, this gene is a member of the SOG subfamily that includes somatostatin, opioid, galanin, and kisspeptin receptors. The orthologous mouse gene has a restricted pattern of neuronal expression which is induced following nerve injury. All GPCRs have a transmembrane domain that includes seven transmembrane alpha-helices. A general feature of GPCR signaling is the agonist-induced conformational change in the receptor, leading to activation of the heterotrimeric G protein. The activated G protein then binds to and activates numerous downstream effector proteins, which generate second messengers that mediate a broad range of cellular and physiological processes. [provided by RefSeq, Jul 2017]
GPR153	chr1	6247346	6260975	-	ENSG00000158292.6	protein_coding	PGR1	1p36.31	G protein-coupled receptor 153	This gene encodes an integral membrane protein that belongs to the Class A rhodopsin superfamily of G protein coupled receptors. The encoded protein is expressed primarily in the central nervous system. A knockdown of the orthologous gene in rat is associated with a significant reduction in food intake and impaired decision making ability. Mutations in this gene are associated with schizophrenia, autism, and other neuropsychiatric disorders. The expression of this gene is activated by the glioma-associated oncogene homolog 1 transcription factor which, in turn, is activated by sonic hedgehog in normal and tumorigenic cells. [provided by RefSeq, Feb 2017]
GPR155	chr2	174431571	174487094	-	ENSG00000163328.13	protein_coding	DEP.7|DEPDC3|PGR22	2q31.1	G protein-coupled receptor 155	Ubiquitous expression in stomach (RPKM 11.2), brain (RPKM 8.6) and 24 other tissues
GPR156	chr3	120164645	120285094	-	ENSG00000175697.10	protein_coding	GABABL|PGR28	3q13.33	G protein-coupled receptor 156	G protein-coupled receptors (GPCRs) are a large superfamily of cell surface receptors characterized by 7 helical transmembrane domains, together with N-terminal extracellular and C-terminal intracellular domains.[supplied by OMIM, Mar 2008]
GPR157	chr1	9100305	9129170	-	ENSG00000180758.11	protein_coding	-	1p36.22	G protein-coupled receptor 157	-
GPR158	chr10	25175062	25602226	+	ENSG00000151025.9	protein_coding	-	10p12.1	G protein-coupled receptor 158	-
GPR160	chr3	170037929	170085403	+	ENSG00000173890.16	protein_coding	GPCR1|GPCR150	3q26.2	G protein-coupled receptor 160	Broad expression in small intestine (RPKM 20.7), duodenum (RPKM 16.2) and 15 other tissues
GPR161	chr1	168079543	168137667	-	ENSG00000143147.14	protein_coding	RE2	1q24.2	G protein-coupled receptor 161	The protein encoded by this gene is an orphan G protein-coupled receptor whose ligand is unknown. This gene is overexpressed in triple-negative breast cancer, and disruption of this gene slows the proliferation of basal breast cancer cells. Therefore, this gene is a potential drug target for triple-negative breast cancer. [provided by RefSeq, Mar 2017]
GPR162	chr12	6821545	6829972	+	ENSG00000250510.7	protein_coding	A-2|GRCA	12p13.31	G protein-coupled receptor 162	This gene was identified upon genomic analysis of a gene-dense region at human chromosome 12p13. It appears to be mainly expressed in the brain; however, its function is not known. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
GPR17	chr2	127645864	127652639	+	ENSG00000144230.16	protein_coding	-	2q14.3	G protein-coupled receptor 17	-
GPR176	chr15	39799032	39920892	-	ENSG00000166073.10	protein_coding	HB-954	15q14-q15.1	G protein-coupled receptor 176	Members of the G protein-coupled receptor family, such as GPR176, are cell surface receptors involved in responses to hormones, growth factors, and neurotransmitters (Hata et al., 1995 [PubMed 7893747]).[supplied by OMIM, Jul 2008]
GPR179	chr17	38325530	38343847	-	ENSG00000277399.4	protein_coding	CSNB1E|GPR158L|GPR158L1	17q12	G protein-coupled receptor 179	This gene encodes a member of the glutamate receptor subfamily of G protein-coupled receptors. The encoded protein has an EGF-like calcium binding domain and a seven transmembrane domain in the N-terminal region of the protein. Mutations in this gene are associated with congenital stationary night blindness type 1E. [provided by RefSeq, Apr 2012]
GPR18	chr13	99254714	99261744	-	ENSG00000125245.12	protein_coding	-	13q32.3	G protein-coupled receptor 18	-
GPR180	chr13	94601903	94634645	+	ENSG00000152749.7	protein_coding	ITR	13q32.1	G protein-coupled receptor 180	This gene encodes a protein that is a member of the G protein-coupled receptor superfamily. This protein is produced predominantly in vascular smooth muscle cells and may play an important role in the regulation of vascular remodeling. [provided by RefSeq, Jul 2008]
GPR182	chr12	56994446	56998441	+	ENSG00000166856.2	protein_coding	7TMR|ADMR|AM-R|AMR|G10D|L1-R|gamrh|hrhAMR	12q13.3	G protein-coupled receptor 182	Adrenomedullin is a potent vasodilator peptide that exerts major effects on cardiovascular function. This gene encodes a seven-transmembrane protein that belongs to the family 1 of G-protein coupled receptors. Studies of the rat counterpart suggest that the encoded protein may function as a receptor for adrenomedullin. [provided by RefSeq, Jul 2008]
GPR183	chr13	99294530	99307405	-	ENSG00000169508.6	protein_coding	EBI2|hEBI2	13q32.3	G protein-coupled receptor 183	This gene was identified by the up-regulation of its expression upon Epstein-Barr virus infection of primary B lymphocytes. This gene is predicted to encode a G protein-coupled receptor that is most closely related to the thrombin receptor. Expression of this gene was detected in B-lymphocyte cell lines and lymphoid tissues but not in T-lymphocyte cell lines or peripheral blood T lymphocytes. The function of this gene is unknown. [provided by RefSeq, Jul 2008]
GPR19	chr12	12660891	12696207	-	ENSG00000183150.7	protein_coding	-	12p13.1	G protein-coupled receptor 19	-
GPR20	chr8	141356500	141367267	-	ENSG00000204882.3	protein_coding	-	8q24.3	G protein-coupled receptor 20	Low expression observed in reference dataset
GPR21	chr9	123034527	123035696	+	ENSG00000188394.6	protein_coding	-	9q33.2	G protein-coupled receptor 21	Low expression observed in reference dataset
GPR22	chr7	107470018	107475659	+	ENSG00000172209.5	protein_coding	-	7q22.3	G protein-coupled receptor 22	Biased expression in heart (RPKM 6.9), brain (RPKM 4.8) and 2 other tissues
GPR25	chr1	200872955	200874178	+	ENSG00000170128.4	protein_coding	-	1q32.1	G protein-coupled receptor 25	-
GPR26	chr10	123666355	123694607	+	ENSG00000154478.3	protein_coding	-	10q26.13	G protein-coupled receptor 26	Restricted expression toward brain (RPKM 2.1)
GPR27	chr3	71754050	71756496	+	ENSG00000170837.2	protein_coding	SREB1	3p13	G protein-coupled receptor 27	GPR27 is a member of the G protein-coupled receptors (GPCRs), a large family of receptors that have a similar structure characterized by 7 transmembrane domains. Activation of GPCRs by extracellular stimuli such as neurotransmitters, hormones, or light induces an intracellular signaling cascade mediated by heterotrimeric GTP-binding proteins, or G proteins.[supplied by OMIM, May 2010]
GPR3	chr1	27392644	27395814	+	ENSG00000181773.6	protein_coding	ACCA	1p36.11	G protein-coupled receptor 3	This gene is a member of the G protein-coupled receptor family and is found in the cell membrane. G protein-coupled receptors, characterized by a seven transmembrane domain motif, are involved in translating outside signals into G protein mediated intracellular effects. The encoded protein activates adenylate cyclase and modulates amyloid-beta production in a mouse model, suggesting that it may play a role in Alzheimers disease. [provided by RefSeq, Oct 2012]
GPR31	chr6	167156271	167158329	-	ENSG00000120436.3	protein_coding	12-HETER|HETER|HETER1	6q27	G protein-coupled receptor 31	Enables G protein-coupled receptor activity and arachidonic acid binding activity. Involved in G protein-coupled receptor signaling pathway and response to acidic pH. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
GPR35	chr2	240605431	240631259	+	ENSG00000178623.11	protein_coding	-	2q37.3	G protein-coupled receptor 35	-
GPR37	chr7	124745997	124765627	-	ENSG00000170775.2	protein_coding	EDNRBL|PAELR|hET(B)R-LP	7q31.33	G protein-coupled receptor 37	This gene is a member of the G protein-coupled receptor family. The encoded protein contains seven transmembrane domains and is found in cell and endoplasmic reticulum membranes. G protein-coupled receptors are involved in translating outside signals into G protein mediated intracellular effects. This gene product interacts with Parkin and is involved in juvenile Parkinson disease. [provided by RefSeq, Oct 2012]
GPR37L1	chr1	202122858	202133592	+	ENSG00000170075.8	protein_coding	ET(B)R-LP-2|ETBR-LP-2|ETBRLP2	1q32.1	G protein-coupled receptor 37 like 1	Biased expression in brain (RPKM 18.1) and colon (RPKM 0.5)
GPR4	chr19	45589764	45602208	-	ENSG00000177464.4	protein_coding	GPR6C.l	19q13.32	G protein-coupled receptor 4	Broad expression in fat (RPKM 4.0), lung (RPKM 2.3) and 22 other tissues
GPR52	chr1	174448111	174449198	+	ENSG00000203737.3	protein_coding	-	1q25.1	G protein-coupled receptor 52	-
GPR61	chr1	109539872	109548406	+	ENSG00000156097.12	protein_coding	BALGR|GPCR3	1p13.3	G protein-coupled receptor 61	This gene belongs to the G-protein coupled receptor 1 family. G protein-coupled receptors contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. The protein encoded by this gene is most closely related to biogenic amine receptors. [provided by RefSeq, Jul 2008]
GPR62	chr3	51955314	51957504	+	ENSG00000180929.5	protein_coding	GPCR8|KPG_005	3p21.2	G protein-coupled receptor 62	-
GPR63	chr6	96794126	96837463	-	ENSG00000112218.8	protein_coding	PSP24(beta)|PSP24B	6q16.1	G protein-coupled receptor 63	This gene encodes a G protein-coupled receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]
GPR65	chr14	88005124	88014811	+	ENSG00000140030.5	protein_coding	TDAG8|hTDAG8	14q31.3	G protein-coupled receptor 65	Broad expression in appendix (RPKM 6.3), bone marrow (RPKM 5.3) and 18 other tissues
GPR68	chr14	91232532	91253925	-	ENSG00000119714.10	protein_coding	AI2A6|GPR12A|OGR1	14q32.11	G protein-coupled receptor 68	The protein encoded by this gene is a G protein-coupled receptor for sphingosylphosphorylcholine. The encoded protein is a proton-sensing receptor, inactive at pH 7.8 but active at pH 6.8. Mutations in this gene are a cause of amelogenesis imperfecta. [provided by RefSeq, Feb 2017]
GPR75	chr2	53852913	53859989	-	ENSG00000119737.5	protein_coding	GPRchr2|WI31133	2p16.2	G protein-coupled receptor 75	GPR75 is a member of the G protein-coupled receptor family. GPRs are cell surface receptors that activate guanine-nucleotide binding proteins upon the binding of a ligand.[supplied by OMIM, Jul 2002]
GPR75-ASB3	chr2	53670293	53860160	-	ENSG00000270898.5	protein_coding	ASB-3|ASB3	2p16.2	GPR75-ASB3 readthrough	This locus represents naturally occurring read-through transcription between the neighboring GPR75 (G protein-coupled receptor 75) and ASB3 (ankyrin repeat and SOCS box containing 3) on chromosome 2. The transcript includes exons from both GPR75 and ASB3 and translation initiates in the 5 non-coding exon of GPR75. The resulting protein has a novel N-terminus but is otherwise identical to that encoded by ASB3.[provided by RefSeq, Feb 2011]
GPR78	chr4	8558725	8619761	+	ENSG00000155269.11	protein_coding	-	4p16.1	G protein-coupled receptor 78	Biased expression in placenta (RPKM 2.0), esophagus (RPKM 0.8) and 1 other tissue
GPR79	chr3	158841093	158841960	-	ENSG00000232374.5	processed_pseudogene	GPR79P	3q25.32	G protein-coupled receptor 79, pseudogene	-
GPR84	chr12	54362445	54364487	-	ENSG00000139572.3	protein_coding	EX33|GPCR4	12q13.13	G protein-coupled receptor 84	Biased expression in bone marrow (RPKM 5.7), appendix (RPKM 3.3) and 6 other tissues
GPR85	chr7	113078331	113087778	-	ENSG00000164604.12	protein_coding	SREB|SREB2	7q31.1	G protein-coupled receptor 85	Members of the G protein-coupled receptor (GPCR) family, such as GPR85, have a similar structure characterized by 7 transmembrane domains. Activation of GPCRs by extracellular stimuli, such as neurotransmitters, hormones, or light, induces an intracellular signaling cascade mediated by heterotrimeric GTP-binding proteins, or G proteins (Matsumoto et al., 2000 [PubMed 10833454]).[supplied by OMIM, Aug 2008]
GPR87	chr3	151294086	151316952	-	ENSG00000138271.5	protein_coding	FKSG78|GPR95|KPG_002	3q25.1	G protein-coupled receptor 87	This gene encodes a G protein-coupled receptor and is located in a cluster of G protein-couple receptor genes on chromosome 3. The encoded protein has been shown to be overexpressed in lung squamous cell carcinoma (PMID:18057535) and regulated by p53 (PMID:19602589). [provided by RefSeq, Nov 2011]
GPR88	chr1	100538137	100542018	+	ENSG00000181656.6	protein_coding	COCPMR|STRG	1p21.2	G protein-coupled receptor 88	The protein encoded by this gene is a G protein-coupled receptor found almost exclusively in the striatum, a brain structure that controls motor function and cognition. Defects in this gene have been associated with chorea, speech delay, and learning difficulties, as well as some neuropsychiatric disorders. [provided by RefSeq, Mar 2017]
GPR89A	chr1	145607990	145670648	+	ENSG00000117262.18	protein_coding	GPHR|GPR89|GPR89B|SH120|UNQ192	1q21.1	G protein-coupled receptor 89A	GPR89A is a nearly identical copy of the GPR89B gene (MIM 612806).[supplied by OMIM, Jun 2009]
GPR89B	chr1	147928393	147993521	+	ENSG00000188092.14	protein_coding	GPHR|GPR89|GPR89C|SH120|UNQ192	1q21.2	G protein-coupled receptor 89B	Note: There are multiple copies of the sequence G protein-coupled receptor 89  in the human genome. After consultation with the HUGO Gene Nomenclature committee, the symbol GPR89B was assigned to the most telomeric locus. [06 Jun 2007]
GPR89P	chr6	27737000	27738494	-	ENSG00000216915.2	processed_pseudogene	C11H1.2-Lp|SH120P	6p22.1	G protein-coupled receptor 89 pseudogene	-
GPRC5A	chr12	12890782	12917937	+	ENSG00000013588.7	protein_coding	GPCR5A|PEIG-1|RAI3|RAIG1|TIG1	12p13.1	G protein-coupled receptor class C group 5 member A	This gene encodes a member of the type 3 G protein-coupling receptor family, characterized by the signature 7-transmembrane domain motif. The encoded protein may be involved in interaction between retinoid acid and G protein signalling pathways. Retinoic acid plays a critical role in development, cellular growth, and differentiation. This gene may play a role in embryonic development and epithelial cell differentiation. [provided by RefSeq, Jul 2008]
GPRC5B	chr16	19856691	19886167	-	ENSG00000167191.11	protein_coding	RAIG-2|RAIG2	16p12.3	G protein-coupled receptor class C group 5 member B	This gene encodes a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The encoded protein may modulate insulin secretion and increased protein expression is associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
GPRC5D	chr12	12940775	12952147	-	ENSG00000111291.8	protein_coding	-	12p13.1	G protein-coupled receptor class C group 5 member D	Low expression observed in reference dataset
GPRIN1	chr5	176595802	176610133	-	ENSG00000169258.6	protein_coding	GRIN1	5q35.2	G protein regulated inducer of neurite outgrowth 1	Biased expression in brain (RPKM 11.5), duodenum (RPKM 2.2) and 5 other tissues
GPRIN3	chr4	89236386	89308010	-	ENSG00000185477.4	protein_coding	GRIN3	4q22.1	GPRIN family member 3	Broad expression in appendix (RPKM 5.7), lymph node (RPKM 5.4) and 24 other tissues
GPS1	chr17	82050691	82057470	+	ENSG00000169727.12	protein_coding	COPS1|CSN1|SGN1	17q25.3	G protein pathway suppressor 1	This gene is known to suppress G-protein and mitogen-activated signal transduction in mammalian cells. The encoded protein shares significant similarity with Arabidopsis FUS6, which is a regulator of light-mediated signal transduction in plant cells. [provided by RefSeq, Mar 2016]
GPS2	chr17	7311324	7315564	-	ENSG00000132522.15	protein_coding	AMF-1	17p13.1	G protein pathway suppressor 2	This gene encodes a protein involved in G protein-mitogen-activated protein kinase (MAPK) signaling cascades. When overexpressed in mammalian cells, this gene could potently suppress a RAS- and MAPK-mediated signal and interfere with JNK activity, suggesting that the function of this gene may be signal repression. The encoded protein is an integral subunit of the NCOR1-HDAC3 (nuclear receptor corepressor 1-histone deacetylase 3) complex, and it was shown that the complex inhibits JNK activation through this subunit and thus could potentially provide an alternative mechanism for hormone-mediated antagonism of AP1 (activator protein 1) function. [provided by RefSeq, Jul 2008]
GPSM1	chr9	136327476	136359605	+	ENSG00000160360.12	protein_coding	AGS3	9q34.3	G protein signaling modulator 1	G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
GPSM2	chr1	108875350	108934545	+	ENSG00000121957.12	protein_coding	CMCS|DFNB82|LGN|PINS	1p13.3	G protein signaling modulator 2	The protein encoded by this gene belongs to a family of proteins that modulate activation of G proteins, which transduce extracellular signals received by cell surface receptors into integrated cellular responses. The N-terminal half of this protein contains 10 copies of leu-gly-asn (LGN) repeat, and the C-terminal half contains 4 GoLoco motifs, which are involved in guanine nucleotide exchange. This protein may play a role in neuroblast division and in the development of normal hearing. Mutations in this gene are associated with autosomal recessive nonsyndromic deafness (DFNB82). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
GPSM3	chr6	32190766	32195523	-	ENSG00000213654.9	protein_coding	AGS4|C6orf9|G18|G18.1a|G18.1b|G18.2|NG1	6p21.32	G protein signaling modulator 3	Broad expression in spleen (RPKM 56.7), lymph node (RPKM 55.9) and 21 other tissues
GPT	chr8	144502973	144507174	+	ENSG00000167701.13	protein_coding	AAT1|ALT1|GPT1	8q24.3	glutamic--pyruvic transaminase	This gene encodes cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate and, therefore, plays a key role in the intermediary metabolism of glucose and amino acids. Serum activity levels of this enzyme are routinely used as a biomarker of liver injury caused by drug toxicity, infection, alcohol, and steatosis. A related gene on chromosome 16 encodes a putative mitochondrial alanine aminotransaminase.[provided by RefSeq, Nov 2009]
GPT2	chr16	46884378	46931297	+	ENSG00000166123.13	protein_coding	ALT2|GPT 2|MRT49|NEDSPM	16q11.2	glutamic--pyruvic transaminase 2	This gene encodes a mitochondrial alanine transaminase, a pyridoxal enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate. Alanine transaminases play roles in gluconeogenesis and amino acid metabolism in many tissues including skeletal muscle, kidney, and liver. Activating transcription factor 4 upregulates this gene under metabolic stress conditions in hepatocyte cell lines. A loss of function mutation in this gene has been associated with developmental encephalopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
GPX1	chr3	49357176	49358600	-	ENSG00000233276.3	protein_coding	GPXD|GSHPX1	3p21.31	glutathione peroxidase 1	The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Other studies indicate that H2O2 is also essential for growth-factor mediated signal transduction, mitochondrial function, and maintenance of thiol redox-balance; therefore, by limiting H2O2 accumulation, glutathione peroxidases are also involved in modulating these processes. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is the most abundant, is ubiquitously expressed and localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. It is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3 UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. This gene contains an in-frame GCG trinucleotide repeat in the coding region, and three alleles with 4, 5 or 6 repeats have been found in the human population. The allele with 4 GCG repeats has been significantly associated with breast cancer risk in premenopausal women. Alternatively spliced transcript variants have been found for this gene. Pseudogenes of this locus have been identified on chromosomes X and 21. [provided by RefSeq, Aug 2017]
GPX2	chr14	64939152	64942905	-	ENSG00000176153.11	protein_coding	GI-GPx|GPRP|GPRP-2|GPx-2|GPx-GI|GSHPX-GI|GSHPx-2	14q23.3	glutathione peroxidase 2	The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is predominantly expressed in the gastrointestinal tract (also in liver in human), is localized in the cytoplasm, and whose preferred substrate is hydrogen peroxide. Overexpression of this gene is associated with increased differentiation and proliferation in colorectal cancer. This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3 UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016]
GPX3	chr5	151020438	151028993	+	ENSG00000211445.11	protein_coding	GPx-P|GSHPx-3|GSHPx-P	5q33.1	glutathione peroxidase 3	The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of organic hydroperoxides and hydrogen peroxide (H2O2) by glutathione, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme is secreted, and is abundantly found in plasma. Downregulation of expression of this gene by promoter hypermethylation has been observed in a wide spectrum of human malignancies, including thyroid cancer, hepatocellular carcinoma and chronic myeloid leukemia. This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3 UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016]
GPX4	chr19	1103926	1106791	+	ENSG00000167468.16	protein_coding	GPx-4|GSHPx-4|MCSP|PHGPx|SMDS|snGPx|snPHGPx	19p13.3	glutathione peroxidase 4	The protein encoded by this gene belongs to the glutathione peroxidase family, members of which catalyze the reduction of hydrogen peroxide, organic hydroperoxides and lipid hydroperoxides, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme has a high preference for lipid hydroperoxides and protects cells against membrane lipid peroxidation and cell death. It is also required for normal sperm development; thus, it has been identified as a moonlighting protein because of its ability to serve dual functions as a peroxidase, as well as a structural protein in mature spermatozoa. Mutations in this gene are associated with Sedaghatian type of spondylometaphyseal dysplasia (SMDS). This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3 UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Transcript variants resulting from alternative splicing or use of alternate promoters have been described to encode isoforms with different subcellular localization. [provided by RefSeq, Dec 2018]
GPX7	chr1	52602372	52609051	+	ENSG00000116157.5	protein_coding	CL683|GPX6|GPx-7|GSHPx-7|NPGPx	1p32.3	glutathione peroxidase 7	Ubiquitous expression in placenta (RPKM 15.6), thyroid (RPKM 9.2) and 24 other tissues
GPX8	chr5	55160118	55167071	+	ENSG00000164294.13	protein_coding	EPLA847|GPx-8|GSHPx-8|UNQ847	5q11.2	glutathione peroxidase 8 (putative)	Broad expression in placenta (RPKM 14.8), endometrium (RPKM 12.4) and 20 other tissues
GRAMD1A	chr19	34994784	35026471	+	ENSG00000089351.14	protein_coding	KIAA1533	19q13.11	GRAM domain containing 1A	Ubiquitous expression in lung (RPKM 13.7), spleen (RPKM 13.3) and 25 other tissues
GRAMD1B	chr11	123358428	123627774	+	ENSG00000023171.16	protein_coding	LINC01059	11q24.1	GRAM domain containing 1B	Predicted to enable cholesterol binding activity; cholesterol transfer activity; and phospholipid binding activity. Predicted to be involved in cellular response to cholesterol and cholesterol homeostasis. Located in endoplasmic reticulum membrane; endoplasmic reticulum-plasma membrane contact site; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
GRAMD1C	chr3	113828182	113947174	+	ENSG00000178075.19	protein_coding	-	3q13.31	GRAM domain containing 1C	-
GRAMD2A	chr15	 72159806	72197787	-	ENSG00000175318	protein-coding	GRAMD2	15q23	GRAM domain containing 2A	Biased expression in placenta (RPKM 18.3), lung (RPKM 8.8) and 4 other tissues
GRAMD2B	chr5	 126360120	126494364	+	ENSG00000155324	protein-coding	GRAMD3|NS3TP2	5q23.2	GRAM domain containing 2B	Ubiquitous expression in brain (RPKM 12.1), thyroid (RPKM 10.5) and 23 other tissues
GRAMD4	chr22	46576012	46679790	+	ENSG00000075240.16	protein_coding	DIP	22q13.31	GRAM domain containing 4	GRAMD4 is a mitochondrial effector of E2F1 (MIM 189971)-induced apoptosis (Stanelle et al., 2005 [PubMed 15565177]).[supplied by OMIM, Jan 2011]
GRAP	chr17	19020673	19047637	-	ENSG00000154016.13	protein_coding	DFNB114	17p11.2	GRB2 related adaptor protein	This gene encodes a member of the GRB2/Sem5/Drk family and functions as a cytoplasmic signaling protein which contains an SH2 domain flanked by two SH3 domains. The SH2 domain interacts with ligand-activated receptors for stem cell factor and erythropoietin, and facilitates the formation of a stable complex with the BCR-ABL oncoprotein. This protein also associates with the Ras guanine nucleotide exchange factor SOS1 (son of sevenless homolog 1) through its N-terminal SH3 domain. In general, it couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. [provided by RefSeq, Jul 2012]
GRAP2	chr22	39901082	39973721	+	ENSG00000100351.16	protein_coding	GADS|GRAP-2|GRB2L|GRBLG|GRID|GRPL|GrbX|Grf40|Mona|P38	22q13.1	GRB2 related adaptor protein 2	This gene encodes a member of the GRB2/Sem5/Drk family. This member is an adaptor-like protein involved in leukocyte-specific protein-tyrosine kinase signaling. Like its related family member, GRB2-related adaptor protein (GRAP), this protein contains an SH2 domain flanked by two SH3 domains. This protein interacts with other proteins, such as GRB2-associated binding protein 1 (GAB1) and the SLP-76 leukocyte protein (LCP2), through its SH3 domains. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
GRB10	chr7	50590063	50793462	-	ENSG00000106070.17	protein_coding	GRB-IR|Grb-10|IRBP|MEG1|RSS	7p12.1	growth factor receptor bound protein 10	The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. Overexpression of some isoforms of the encoded protein inhibits tyrosine kinase activity and results in growth suppression. This gene is imprinted in a highly isoform- and tissue-specific manner, with expression observed from the paternal allele in the brain, and from the maternal allele in the placental trophoblasts. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]
GRB14	chr2	164492812	164621848	-	ENSG00000115290.9	protein_coding	-	2q24.3	growth factor receptor bound protein 14	Biased expression in kidney (RPKM 7.9), liver (RPKM 7.8) and 12 other tissues
GRB2	chr17	75318076	75405709	-	ENSG00000177885.13	protein_coding	ASH|EGFRBP-GRB2|Grb3-3|MST084|MSTP084|NCKAP2	17q25.1	growth factor receptor bound protein 2	The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GRB7	chr17	39737927	39747291	+	ENSG00000141738.13	protein_coding	-	17q12	growth factor receptor bound protein 7	Broad expression in kidney (RPKM 6.4), esophagus (RPKM 5.5) and 16 other tissues
GREB1	chr2	11482341	11642788	+	ENSG00000196208.13	protein_coding	-	2p25.1	growth regulating estrogen receptor binding 1	Biased expression in ovary (RPKM 38.8), prostate (RPKM 13.2) and 2 other tissues
GREB1L	chr18	21242242	21525417	+	ENSG00000141449.14	protein_coding	C18orf6|DFNA80|KIAA1772|RHDA3	18q11.1-q11.2	GREB1 like retinoic acid receptor coactivator	Biased expression in testis (RPKM 2.5), thyroid (RPKM 1.4) and 11 other tissues
GREM1	chr15	32717974	32745107	+	ENSG00000166923.10	protein_coding	C15DUPq|CKTSF1B1|CRAC1|CRCS4|DAND2|DRM|DUP15q|GREMLIN|HMPS|HMPS1|IHG-2|MPSH|PIG2	15q13.3	gremlin 1, DAN family BMP antagonist	This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. In mouse, this protein has been shown to relay the sonic hedgehog (SHH) signal from the polarizing region to the apical ectodermal ridge during limb bud outgrowth. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
GREM2	chr1	240489573	240612149	-	ENSG00000180875.4	protein_coding	CKTSF1B2|DAND3|PRDC|STHAG9	1q43	gremlin 2, DAN family BMP antagonist	This gene encodes a member of the BMP (bone morphogenic protein) antagonist family. Like BMPs, BMP antagonists contain cystine knots and typically form homo- and heterodimers. The CAN (cerberus and dan) subfamily of BMP antagonists, to which this gene belongs, is characterized by a C-terminal cystine knot with an eight-membered ring. The antagonistic effect of the secreted glycosylated protein encoded by this gene is likely due to its direct binding to BMP proteins. As an antagonist of BMP, this gene may play a role in regulating organogenesis, body patterning, and tissue differentiation. [provided by RefSeq, Jul 2008]
GRHL1	chr2	9951693	10002277	+	ENSG00000134317.17	protein_coding	LBP32|MGR|NH32|TFCP2L2	2p25.1	grainyhead like transcription factor 1	This gene encodes a member of the grainyhead family of transcription factors. The encoded protein can exist as a homodimer or can form heterodimers with sister-of-mammalian grainyhead or brother-of-mammalian grainyhead. This protein functions as a transcription factor during development. [provided by RefSeq, Jun 2009]
GRHL3	chr1	24319322	24364482	+	ENSG00000158055.15	protein_coding	SOM|TFCP2L4|VWS2	1p36.11	grainyhead like transcription factor 3	This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010]
GRHPR	chr9	37422666	37436990	+	ENSG00000137106.17	protein_coding	GLXR|GLYD|PH2	9p13.2	glyoxylate and hydroxypyruvate reductase	This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II hyperoxaluria is caused by mutations in this gene. [provided by RefSeq, Jul 2008]
GRIA1	chr5	153489615	153813869	+	ENSG00000155511.17	protein_coding	GLUH1|GLUR1|GLURA|GluA1|HBGR1	5q33.2	glutamate ionotropic receptor AMPA type subunit 1	Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes with multiple subunits, each possessing transmembrane regions, and all arranged to form a ligand-gated ion channel. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. This gene belongs to a family of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA) receptors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GRID1	chr10	85599555	86366493	-	ENSG00000182771.18	protein_coding	GluD1|GluD1-b	10q23.1-q23.2	glutamate ionotropic receptor delta type subunit 1	This gene encodes a subunit of glutamate receptor channels. These channels mediate most of the fast excitatory synaptic transmission in the central nervous system and play key roles in synaptic plasticity.[provided by RefSeq, Jan 2009]
GRID1-AS1	chr10	85577731	85607213	+	ENSG00000234942.2	antisense	-	10q23.1	GRID1 antisense RNA 1	-
GRID2	chr4	92303622	93810157	+	ENSG00000152208.12	protein_coding	GluD2|SCAR18	4q22.1-q22.2	glutamate ionotropic receptor delta type subunit 2	The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named lurcher, in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014]
GRID2IP	chr7	6497462	6551436	-	ENSG00000215045.8	protein_coding	DELPHILIN	7p22.1	Grid2 interacting protein	Glutamate receptor delta-2 (GRID2; MIM 602368) is predominantly expressed at parallel fiber-Purkinje cell postsynapses and plays crucial roles in synaptogenesis and synaptic plasticity. GRID2IP1 interacts with GRID2 and may control GRID2 signaling in Purkinje cells (Matsuda et al., 2006 [PubMed 16835239]).[supplied by OMIM, Mar 2008]
GRIK1-AS2	chr21	 29596040	29630747	+	ENSG00000156273	ncRNA	C21orf41|NCRNA00258	21q21.3	GRIK1 antisense RNA 2	Low expression observed in reference dataset
GRIK2	chr6	101398788	102070083	+	ENSG00000164418.19	protein_coding	EAA4|GLR6|GLUK6|GLUR6|GluK2|MRT6	6q16.3	glutamate ionotropic receptor kainate type subunit 2	Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing at multiple sites within the first and second transmembrane domains, which is thought to alter the structure and function of the receptor complex. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. Mutations in this gene have been associated with autosomal recessive cognitive disability. [provided by RefSeq, Jul 2008]
GRIK3	chr1	36795527	37034129	-	ENSG00000163873.9	protein_coding	EAA5|GLR7|GLUR7|GluK3|GluR7a	1p34.3	glutamate ionotropic receptor kainate type subunit 3	Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. It is not certain if the subunit encoded by this gene is subject to RNA editing as the other 2 family members (GRIK1 and GRIK2). A Ser310Ala polymorphism has been associated with schizophrenia, and there are conflicting reports of its association with the pathogenesis of delirium tremens in alcoholics. [provided by RefSeq, Jul 2008]
GRIK5	chr19	41998321	42069498	-	ENSG00000105737.9	protein_coding	EAA2|GRIK2|GluK5|KA2	19q13.2	glutamate ionotropic receptor kainate type subunit 5	This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
GRIN2A	chr16	9753404	10182754	-	ENSG00000183454.16	protein_coding	EPND|FESD|GluN2A|LKS|NMDAR2A|NR2A	16p13.2	glutamate ionotropic receptor NMDA type subunit 2A	This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
GRIN2B	chr12	13437942	13981957	-	ENSG00000273079.5	protein_coding	DEE27|EIEE27|GluN2B|MRD6|NMDAR2B|NR2B|NR3|hNR3	12p13.1	glutamate ionotropic receptor NMDA type subunit 2B	This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The NMDA receptors mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA receptors are heterotetramers of seven genetically encoded, differentially expressed subunits including NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene in development suggests a role in brain development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurring mutations within this gene are associated with neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug 2017]
GRIN2D	chr19	48394875	48444931	+	ENSG00000105464.3	protein_coding	DEE46|EB11|EIEE46|GluN2D|NMDAR2D|NR2D	19q13.33	glutamate ionotropic receptor NMDA type subunit 2D	N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C), and NMDAR2D (GRIN2D). [provided by RefSeq, Mar 2010]
GRIN3A	chr9	101569353	101738580	-	ENSG00000198785.4	protein_coding	GluN3A|NMDAR-L|NMDAR3A|NR3A	9q31.1	glutamate ionotropic receptor NMDA type subunit 3A	This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptors, which belong to the superfamily of glutamate-regulated ion channels, and function in physiological and pathological processes in the central nervous system. This subunit shows greater than 90% identity to the corresponding subunit in rat. Studies in the knockout mouse deficient in this subunit suggest that this gene may be involved in the development of synaptic elements by modulating NMDA receptor activity. [provided by RefSeq, Jul 2008]
GRIN3B	chr19	1000419	1009732	+	ENSG00000116032.5	protein_coding	GluN3B|NR3B	19p13.3	glutamate ionotropic receptor NMDA type subunit 3B	The protein encoded by this gene is a subunit of an N-methyl-D-aspartate (NMDA) receptor. The encoded protein is found primarily in motor neurons, where it forms a heterotetramer with GRIN1 to create an excitatory glycine receptor. Variations in this gene have been proposed to be linked to schizophrenia. [provided by RefSeq, Nov 2015]
GRINA	chr8	143990058	143993415	+	ENSG00000178719.16	protein_coding	HNRGW|LFG1|NMDARA1|TMBIM3	8q24.3	glutamate ionotropic receptor NMDA type subunit associated protein 1	Ubiquitous expression in fat (RPKM 80.7), brain (RPKM 68.3) and 25 other tissues
GRIP1	chr12	66347431	66804186	-	ENSG00000155974.11	protein_coding	FRASRS3|GRIP	12q14.3	glutamate receptor interacting protein 1	This gene encodes a member of the glutamate receptor interacting protein family. The encoded scaffold protein binds to and mediates the trafficking and membrane organization of a number of transmembrane proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010]
GRIPAP1	chrX	48973720	49002264	-	ENSG00000068400.13	protein_coding	GRASP-1	Xp11.23	GRIP1 associated protein 1	This gene encodes a guanine nucleotide exchange factor for the Ras family of small G proteins (RasGEF). The encoded protein interacts in a complex with glutamate receptor interacting protein 1 (GRIP1) and plays a role in the regulation of AMPA receptor function. [provided by RefSeq, Aug 2013]
GRK2	chr11	67266410	67286556	+	ENSG00000173020.10	protein_coding	ADRBK1|BARK1|BETA-ARK1	11q13.2	G protein-coupled receptor kinase 2	This gene encodes a member of the G protein-coupled receptor kinase family of proteins. The encoded protein phosphorylates the beta-adrenergic receptor as well as a wide range of other substrates including non-GPCR cell surface receptors, and cytoskeletal, mitochondrial, and transcription factor proteins. Data from rodent models supports a role for this gene in embryonic development, heart function and metabolism. Elevated expression of this gene has been observed in human patients with heart failure and Alzheimers disease. [provided by RefSeq, Sep 2017]
GRK4	chr4	2963608	3040747	+	ENSG00000125388.19	protein_coding	GPRK2L|GPRK4|GRK4a|IT11	4p16.3	G protein-coupled receptor kinase 4	This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating its deactivation. This gene has been linked to both genetic and acquired hypertension. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
GRK5	chr10	119207589	119459742	+	ENSG00000198873.11	protein_coding	FP2025|GPRK5	10q26.11	G protein-coupled receptor kinase 5	This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. It has also been shown to play a role in regulating the motility of polymorphonuclear leukocytes (PMNs). [provided by RefSeq, Jul 2008]
GRK6	chr5	177403204	177442901	+	ENSG00000198055.10	protein_coding	GPRK6	5q35.3	G protein-coupled receptor kinase 6	This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating their deactivation. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
GRK7	chr3	141778148	141818490	+	ENSG00000114124.2	protein_coding	GPRK7	3q23	G protein-coupled receptor kinase 7	This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. It is specifically expressed in the retina and the encoded protein has been shown to phosphorylate cone opsins and initiate their deactivation. [provided by RefSeq, Jul 2008]
GRM1	chr6	146027646	146437598	+	ENSG00000152822.13	protein_coding	GPRC1A|MGLU1|MGLUR1|PPP1R85|SCA44|SCAR13	6q24.3	glutamate metabotropic receptor 1	This gene encodes a metabotropic glutamate receptor that functions by activating phospholipase C. L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The canonical alpha isoform of the encoded protein is a disulfide-linked homodimer whose activity is mediated by a G-protein-coupled phosphatidylinositol-calcium second messenger system. This gene may be associated with many disease states, including schizophrenia, bipolar disorder, depression, and breast cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
GRM2	chr3	51707070	51718613	+	ENSG00000164082.14	protein_coding	GLUR2|GPRC1B|MGLUR2|mGlu2	3p21.2	glutamate metabotropic receptor 2	L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]
GRM3	chr7	86643914	86864884	+	ENSG00000198822.10	protein_coding	GLUR3|GPRC1C|MGLUR3|mGlu3	7q21.11-q21.12	glutamate metabotropic receptor 3	L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Jul 2008]
GRM4	chr6	34018645	34155622	-	ENSG00000124493.13	protein_coding	GPRC1D|MGLUR4|mGlu4	6p21.31	glutamate metabotropic receptor 4	L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
GRM5	chr11	88504576	89065945	-	ENSG00000168959.14	protein_coding	GPRC1E|MGLUR5|PPP1R86|mGlu5	11q14.2-q14.3	glutamate metabotropic receptor 5	This gene encodes a member of the G-protein coupled receptor 3 protein family. The encoded protein is a metabatropic glutamate receptor, whose signaling activates a phosphatidylinositol-calcium second messenger system. This protein may be involved in the regulation of neural network activity and synaptic plasticity. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. A pseudogene of this gene has been defined on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
GRM7	chr3	6770001	7741533	+	ENSG00000196277.15	protein_coding	GLUR7|GPRC1G|MGLU7|MGLUR7|NEDSHBA|PPP1R87	3p26.1	glutamate metabotropic receptor 7	L-glutamate is the major excitatory neurotransmitter in the central nervous system, and it activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors that have been divided into three groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5, and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3, while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
GRM8	chr7	126438598	127253294	-	ENSG00000179603.17	protein_coding	GLUR8|GPRC1H|MGLUR8|mGlu8	7q31.33	glutamate metabotropic receptor 8	L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
GRN	chr17	44345086	44353102	+	ENSG00000030582.17	protein_coding	CLN11|GEP|GP88|PCDGF|PEPI|PGRN	17q21.31	granulin precursor	Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. [provided by RefSeq, Jul 2008]
GRP	chr18	59220168	59230774	+	ENSG00000134443.9	protein_coding	BN|GRP-10|preproGRP|proGRP	18q21.32	gastrin releasing peptide	This gene encodes a member of the bombesin-like family of gastrin-releasing peptides. The encoded preproprotein is proteolytically processed to generate two peptides, gastrin-releasing peptide and neuromedin-C. These peptides regulate numerous functions of the gastrointestinal and central nervous systems, including release of gastrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation. These peptides are also likely to play a role in human cancers of the lung, colon, stomach, pancreas, breast, and prostate. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
GRPEL1	chr4	7058906	7068197	-	ENSG00000109519.12	protein_coding	GrpE|HMGE|mt-GrpE#1	4p16.1	GrpE like 1, mitochondrial	Ubiquitous expression in adrenal (RPKM 26.2), kidney (RPKM 13.9) and 25 other tissues
GRPEL2	chr5	149345430	149354583	+	ENSG00000164284.14	protein_coding	Mt-GrpE#2	5q32	GrpE like 2, mitochondrial	Ubiquitous expression in esophagus (RPKM 15.4), fat (RPKM 4.6) and 24 other tissues
GRPEL2-AS1	chr5	149348116	149357642	-	ENSG00000253618.1	antisense	-	5q32	GRPEL2 antisense RNA 1	-
GRTP1	chr13	113324164	113364148	-	ENSG00000139835.13	protein_coding	TBC1D6	13q34	growth hormone regulated TBC protein 1	Broad expression in duodenum (RPKM 6.6), small intestine (RPKM 5.5) and 19 other tissues
GRTP1-AS1	chr13	113351673	113361868	+	ENSG00000225083.1	antisense	-	13q34	GRTP1 antisense RNA 1	-
GS1-124K5.10	chr7	66511556	66545066	+	ENSG00000234500.1	unprocessed_pseudogene	-	-	-	-
GS1-124K5.12	chr7	66526088	66592397	-	ENSG00000229180.6	transcribed_unprocessed_pseudogene	-	-	-	-
GS1-124K5.13	chr7	66474556	66475749	+	ENSG00000279785.1	TEC	-	-	-	-
GS1-124K5.2	chr7	66427949	66453634	-	ENSG00000230189.7	transcribed_unprocessed_pseudogene	-	-	-	-
GS1-124K5.4	chr7	66493706	66495474	+	ENSG00000237310.1	lincRNA	-	7q11.21	uncharacterized LOC100289098	Broad expression in testis (RPKM 6.2), fat (RPKM 1.8) and 17 other tissues
GS1-124K5.7	chr7	66480394	66490108	-	ENSG00000244510.2	transcribed_unprocessed_pseudogene	-	-	-	-
GS1-124K5.8	chr7	66485095	66486532	-	ENSG00000244657.1	transcribed_unprocessed_pseudogene	-	-	-	-
GS1-124K5.9	chr7	66505155	66506223	-	ENSG00000179342.4	processed_pseudogene	-	-	-	-
GS1-165B14.2	chr7	7735743	7736851	-	ENSG00000270314.1	processed_pseudogene	-	-	-	-
GS1-24F4.2	chr8	6835554	6885276	+	ENSG00000245857.2	lincRNA	-	8p23.1	uncharacterized LOC100652791	-
GS1-251I9.3	chr8	91016588	91018655	+	ENSG00000253358.1	antisense	-	-	-	-
GS1-279B7.1	chr1	185321157	185335039	-	ENSG00000261024.6	lincRNA	-	1q25.3	microtubule associated protein 1 light chain 3 beta pseudogene	-
GS1-393G12.14	chr8	144409492	144409976	+	ENSG00000272115.1	antisense	-	-	-	-
GS1-531I17.3	chr17	65644308	65644617	+	ENSG00000271587.1	processed_pseudogene	-	-	-	-
GS1-72M22.1	chr8	24912165	24914717	-	ENSG00000272163.1	antisense	-	-	-	-
GSAP	chr7	77310751	77416400	-	ENSG00000186088.15	protein_coding	PION	7q11.23	gamma-secretase activating protein	Accumulation of neurotoxic amyloid-beta is a major hallmark of Alzheimer disease (AD; MIM 104300). Formation of amyloid-beta is catalyzed by gamma-secretase (see PSEN1; MIM 104311), a protease with numerous substrates. PION, or GSAP, selectively increases amyloid-beta production through a mechanism involving its interaction with both gamma-secretase and its substrate, the amyloid-beta precursor protein (APP; MIM 104760) C-terminal fragment (APP-CTF) (He et al., 2010 [PubMed 20811458]).[supplied by OMIM, Nov 2010]
GSDMA	chr17	39953263	39977766	+	ENSG00000167914.11	protein_coding	FKSG9|GSDM|GSDM1	17q21.1	gasdermin A	Biased expression in skin (RPKM 16.4) and esophagus (RPKM 1.0)
GSDMB	chr17	39904595	39919854	-	ENSG00000073605.18	protein_coding	GSDMB-1|GSDML|PP4052|PRO2521	17q21.1	gasdermin B	This gene encodes a member of the gasdermin-domain containing protein family. Other gasdermin-family genes are implicated in the regulation of apoptosis in epithelial cells, and are linked to cancer. Alternative splicing and the use of alternative promoters results in multiple transcript variants. Additional variants have been described, but they are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to be protein-coding. [provided by RefSeq, Nov 2016]
GSDMC	chr8	129748196	129786888	-	ENSG00000147697.8	protein_coding	MLZE	8q24.21	gasdermin C	Biased expression in skin (RPKM 9.5), spleen (RPKM 4.6) and 1 other tissue
GSDMD	chr8	143553207	143563062	+	ENSG00000104518.10	protein_coding	DF5L|DFNA5L|FKSG10|GSDMDC1	8q24.3	gasdermin D	Gasdermin D is a member of the gasdermin family. Members of this family appear to play a role in regulation of epithelial proliferation. Gasdermin D has been suggested to act as a tumor suppressor. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2009]
GSDME	chr7	 24698355	24795539	-	ENSG00000105928	protein-coding	DFNA5|ICERE-1	7p15.3	gasdermin E	Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GSE1	chr16	85169525	85676204	+	ENSG00000131149.18	protein_coding	CRHSP24|KIAA0182	16q24.1	Gse1 coiled-coil protein	This gene encodes a proline-rich protein with coiled coil domains that may be a subunit of a BRAF35-HDAC (BHC) histone deacetylase complex. This gene may function as an oncogene in breast cancer and enhanced expression of the encoded protein has been observed in breast cancer patients. [provided by RefSeq, May 2017]
GSEC	chr11	 126341716	126355587	-	-	ncRNA	DCPS-AS1|ST3GAL4-AS1	11q24.2	G-quadruplex forming sequence containing lncRNA	-
GSG1	chr12	13083560	13103683	-	ENSG00000111305.18	protein_coding	-	12p13.1	germ cell associated 1	-
GSG1L	chr16	27787535	28063509	-	ENSG00000169181.12	protein_coding	PRO19651	16p12.1	GSG1 like	Predicted to be involved in regulation of AMPA receptor activity. Predicted to be located in postsynaptic density. Predicted to be active in Schaffer collateral - CA1 synapse; glutamatergic synapse; and plasma membrane. Predicted to be integral component of postsynaptic density membrane. [provided by Alliance of Genome Resources, Apr 2022]
GSK3A	chr19	42230186	42242625	-	ENSG00000105723.11	protein_coding	-	19q13.2	glycogen synthase kinase 3 alpha	Ubiquitous expression in brain (RPKM 26.3), testis (RPKM 18.3) and 25 other tissues
GSK3B	chr3	119821323	120094417	-	ENSG00000082701.14	protein_coding	-	3q13.33	glycogen synthase kinase 3 beta	Ubiquitous expression in brain (RPKM 13.9), thyroid (RPKM 9.9) and 25 other tissues
GSKIP	chr14	96363452	96387288	+	ENSG00000100744.14	protein_coding	C14orf129|HSPC210	14q32.2	GSK3B interacting protein	This gene encodes a protein that is involved as a negative regulator of GSK3-beta in the Wnt signaling pathway. The encoded protein may play a role in the retinoic acid signaling pathway by regulating the functional interactions between GSK3-beta, beta-catenin and cyclin D1, and it regulates the beta-catenin/N-cadherin pool. The encoded protein contains a GSK3-beta interacting domain (GID) in its C-terminus, which is similar to the GID of Axin. The protein also contains an evolutionarily conserved RII-binding domain, which facilitates binding with protein kinase-A and GSK3-beta, enabling its role as an A-kinase anchoring protein. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]
GSN	chr9	121207794	121332843	+	ENSG00000148180.19	protein_coding	ADF|AGEL	9q33.2	gelsolin	The protein encoded by this gene binds to the plus ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GSPT1	chr16	11868128	11916082	-	ENSG00000103342.12	protein_coding	551G9.2|ETF3A|GST1|eRF3a	16p13.13	G1 to S phase transition 1	Ubiquitous expression in thyroid (RPKM 16.3), colon (RPKM 15.7) and 25 other tissues
GSPT2	chrX	51743431	51746232	+	ENSG00000189369.8	protein_coding	ERF3B|GST2	Xp11.22	G1 to S phase transition 2	This gene encodes a GTPase that belongs to the GTP-binding elongation factor family. The encoded protein is a polypeptide release factor that complexes with eukaryotic peptide chain release factor 1 to mediate translation termination. This protein may also be involved in mRNA stability.[provided by RefSeq, Mar 2010]
GSR	chr8	30678061	30727926	-	ENSG00000104687.12	protein_coding	GR|GSRD|HEL-75|HEL-S-122m	8p12	glutathione-disulfide reductase	This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. This enzyme is a homodimeric flavoprotein. It is a central enzyme of cellular antioxidant defense, and reduces oxidized glutathione disulfide (GSSG) to the sulfhydryl form GSH, which is an important cellular antioxidant. Rare mutations in this gene result in hereditary glutathione reductase deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Aug 2010]
GSS	chr20	34928430	34955817	-	ENSG00000100983.9	protein_coding	GSHS|HEL-S-64p|HEL-S-88n	20q11.22	glutathione synthetase	Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008]
GSTA1	chr6	52791664	52803910	-	ENSG00000243955.5	protein_coding	GST-epsilon|GST2|GSTA1-1|GTH1	6p12.2	glutathione S-transferase alpha 1	This gene encodes a member of a family of enzymes that function to add glutathione to target electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins, and products of oxidative stress. This action is an important step in detoxification of these compounds. This subfamily of enzymes has a particular role in protecting cells from reactive oxygen species and the products of peroxidation. Polymorphisms in this gene influence the ability of individuals to metabolize different drugs. This gene is located in a cluster of similar genes and pseudogenes on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
GSTA2	chr6	52750089	52763569	-	ENSG00000244067.2	protein_coding	GST2|GSTA2-2|GTA2|GTH2	6p12.2	glutathione S-transferase alpha 2	Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes function in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding these enzymes are known to be highly polymorphic. These genetic variations can change an individuals susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of some drugs. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, located in a cluster mapped to chromosome 6, are the most abundantly expressed glutathione S-transferases in liver. In addition to metabolizing bilirubin and certain anti-cancer drugs in the liver, the alpha class of these enzymes exhibit glutathione peroxidase activity thereby protecting the cells from reactive oxygen species and the products of peroxidation. [provided by RefSeq, Jul 2008]
GSTA3	chr6	52896639	52909685	-	ENSG00000174156.14	protein_coding	GSTA3-3|GTA3	6p12.2	glutathione S-transferase alpha 3	Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class genes that are located in a cluster mapped to chromosome 6. Genes of the alpha class are highly related and encode enzymes with glutathione peroxidase activity. However, during evolution, this alpha class gene diverged accumulating mutations in the active site that resulted in differences in substrate specificity and catalytic activity. The enzyme encoded by this gene catalyzes the double bond isomerization of precursors for progesterone and testosterone during the biosynthesis of steroid hormones. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]
GSTA5	chr6	52831655	52846095	-	ENSG00000182793.11	protein_coding	-	6p12.2	glutathione S-transferase alpha 5	Low expression observed in reference dataset
GSTA6P	chr6	52805613	52813460	-	ENSG00000223622.2	unprocessed_pseudogene	GSTAP1	6p12.2	glutathione S-transferase alpha 6, pseudogene	-
GSTA7P	chr6	52739590	52744656	-	ENSG00000237674.1	unprocessed_pseudogene	GSTAP2|GSTAP6	6p12.2	glutathione S-transferase alpha 7, pseudogene	-
GSTA8P	chr6	52687930	52703825	-	ENSG00000220377.1	unprocessed_pseudogene	GSTAP7	6p12.2	glutathione S-transferase alpha 8, pseudogene	-
GSTCD	chr4	105708778	105847728	+	ENSG00000138780.14	protein_coding	-	4q24	glutathione S-transferase C-terminal domain containing	-
GSTK1	chr7	143244093	143270854	+	ENSG00000197448.13	protein_coding	GST|GST 13-13|GST13|GST13-13|GSTK1-1|hGSTK1	7q34	glutathione S-transferase kappa 1	This gene encodes a member of the kappa class of the glutathione transferase superfamily of enzymes that function in cellular detoxification. The encoded protein is localized to the peroxisome and catalyzes the conjugation of glutathione to a wide range of hydrophobic substates facilitating the removal of these compounds from cells. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]
GSTM1	chr1	109687814	109709039	+	ENSG00000134184.12	protein_coding	GST1|GSTM1-1|GSTM1a-1a|GSTM1b-1b|GTH4|GTM1|H-B|MU|MU-1	1p13.3	glutathione S-transferase mu 1	Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individuals susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Null mutations of this class mu gene have been linked with an increase in a number of cancers, likely due to an increased susceptibility to environmental toxins and carcinogens. Multiple protein isoforms are encoded by transcript variants of this gene. [provided by RefSeq, Jul 2008]
GSTM2	chr1	109668022	109709551	+	ENSG00000213366.12	protein_coding	GST4|GSTM|GSTM2-2|GTHMUS	1p13.3	glutathione S-transferase mu 2	Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individuals susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. [provided by RefSeq, Jul 2008]
GSTM3	chr1	109733932	109741038	-	ENSG00000134202.10	protein_coding	GST5|GSTB|GSTM3-3|GTM3	1p13.3	glutathione S-transferase mu 3	Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individuals susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Mutations of this class mu gene have been linked with a slight increase in a number of cancers, likely due to exposure with environmental toxins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
GSTM3P1	chr20	21501395	21501968	+	ENSG00000227693.1	processed_pseudogene	GSTM3P|dJ984P4.2	20p11.22	glutathione S-transferase mu 3 pseudogene 1	-
GSTM4	chr1	109656081	109674836	+	ENSG00000168765.16	protein_coding	GSTM4-4|GTM4	1p13.3	glutathione S-transferase mu 4	Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individuals susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. Multiple transcript variants, each encoding a distinct protein isoform, have been identified. [provided by RefSeq, Jul 2008]
GSTM5	chr1	109712255	109775428	+	ENSG00000134201.10	protein_coding	GSTM5-5|GTM5	1p13.3	glutathione S-transferase mu 5	Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individuals susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. [provided by RefSeq, Jul 2008]
GSTM5P1	chr3	12257801	12258460	-	ENSG00000236062.1	processed_pseudogene	GST1L|GSTM1L	3p25.2	glutathione S-transferase mu 5 pseudogene 1	-
GSTO1	chr10	104235356	104267459	+	ENSG00000148834.12	protein_coding	GSTO 1-1|GSTTLp28|HEL-S-21|P28|SPG-R	10q25.1	glutathione S-transferase omega 1	The protein encoded by this gene is an omega class glutathione S-transferase (GST) with glutathione-dependent thiol transferase and dehydroascorbate reductase activities. GSTs are involved in the metabolism of xenobiotics and carcinogens. The encoded protein acts as a homodimer and is found in the cytoplasm. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
GSTO2	chr10	104268873	104304945	+	ENSG00000065621.14	protein_coding	GSTO 2-2|bA127L20.1	10q25.1	glutathione S-transferase omega 2	The protein encoded by this gene is an omega class glutathione S-transferase (GST). GSTs are involved in the metabolism of xenobiotics and carcinogens. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]
GSTP1	chr11	67583595	67586660	+	ENSG00000084207.15	protein_coding	DFN7|FAEES3|GST3|GSTP|HEL-S-22|PI	11q13.2	glutathione S-transferase pi 1	Glutathione S-transferases (GSTs) are a family of enzymes that play an important role in detoxification by catalyzing the conjugation of many hydrophobic and electrophilic compounds with reduced glutathione. Based on their biochemical, immunologic, and structural properties, the soluble GSTs are categorized into 4 main classes: alpha, mu, pi, and theta. This GST family member is a polymorphic gene encoding active, functionally different GSTP1 variant proteins that are thought to function in xenobiotic metabolism and play a role in susceptibility to cancer, and other diseases. [provided by RefSeq, Jul 2008]
GSTT1	chr22	 270308	278486	-	-	protein-coding	-	22q11.23	glutathione S-transferase theta 1	Annotation category: only annotated on alternate loci in reference assembly
GSTT2	chr22	23980058	23983915	+	ENSG00000099984.11	polymorphic_pseudogene	-	22q11.23	glutathione S-transferase theta 2 (gene/pseudogene)	Broad expression in adrenal (RPKM 18.4), skin (RPKM 14.6) and 20 other tissues
GSTT2B	chr22	23957414	23961186	-	ENSG00000133433.10	protein_coding	GSTT2P	22q11.23	glutathione S-transferase theta 2B	The protein encoded by this gene, glutathione S-transferase (GST) theta 2B (GSTT2B), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT2 and GSTT2B are nearly identical to each other, and share 55% amino acid identity with GSTT1. All three genes may play a role in human carcinogenesis. The GSTT2B gene is a pseudogene in some populations. [provided by RefSeq, Sep 2015]
GSTTP2	chr22	 280113	296074	-	-	pseudogene	-	22q11.23	glutathione S-transferase theta pseudogene 2	-
GSTZ1	chr14	77320884	77331597	+	ENSG00000100577.18	protein_coding	GSTZ1-1|MAAI|MAAID|MAI	14q24.3	glutathione S-transferase zeta 1	This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. This enzyme catalyzes the conversion of maleylacetoacetate to fumarylacetoacatate, which is one of the steps in the phenylalanine/tyrosine degradation pathway. Deficiency of a similar gene in mouse causes oxidative stress. Several transcript variants of this gene encode multiple protein isoforms. [provided by RefSeq, Jul 2015]
GSX2	chr4	54099523	54102505	+	ENSG00000180613.10	protein_coding	DMJDS2|GSH2	4q12	GS homeobox 2	Enables DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including nervous system development; positive regulation of Notch signaling pathway; and regulation of respiratory gaseous exchange by nervous system process. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
GTDC1	chr2	143938068	144332568	-	ENSG00000121964.14	protein_coding	Hmat-Xa|mat-Xa	2q22.3	glycosyltransferase like domain containing 1	Ubiquitous expression in brain (RPKM 3.1), fat (RPKM 2.4) and 25 other tissues
GTF2A1	chr14	81175452	81221377	-	ENSG00000165417.11	protein_coding	TF2A1|TFIIA|TFIIA-42|TFIIAL	14q31.1	general transcription factor IIA subunit 1	Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and several general initiation factors (summarized by DeJong and Roeder, 1993 [PubMed 8224848]). One of these factors is TFIIA, which when purified from HeLa extracts consists of 35-, 19-, and 12-kD subunits.[supplied by OMIM, Jul 2010]
GTF2A2	chr15	59638062	59657541	-	ENSG00000140307.10	protein_coding	HsT18745|T18745|TF2A2|TFIIA|TFIIA-12|TFIIA-gamma|TFIIAS	15q22.2	general transcription factor IIA subunit 2	Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and the general initiation factors TFIIA, TFIIB (MIM 189963), TFIID (MIM 313650), TFIIE (MIM 189962), TFIIF (MIM 189968), TFIIG/TFIIJ, and TFIIH (MIM 189972). The first step involves recognition of the TATA element by the TATA-binding subunit (TBP; MIM 600075) and may be regulated by TFIIA, a factor that interacts with both TBP and a TBP-associated factor (TAF; MIM 600475) in TFIID. TFIIA has 2 subunits (43 and 12 kD) in yeast and 3 subunits in higher eukaryotes. In HeLa extracts, it consists of a 35-kD alpha subunit and a 19-kD beta subunit encoded by the N- and C-terminal regions of GTF2A1 (MIM 600520), respectively, and a 12-kD gamma subunit encoded by GTF2A2 (DeJong et al., 1995 [PubMed 7724559]).[supplied by OMIM, Mar 2008]
GTF2B	chr1	88852932	88891944	-	ENSG00000137947.11	protein_coding	TF2B|TFIIB	1p22.2	general transcription factor IIB	This gene encodes the general transcription factor IIB, one of the ubiquitous factors required for transcription initiation by RNA polymerase II. The protein localizes to the nucleus where it forms a complex (the DAB complex) with transcription factors IID and IIA. Transcription factor IIB serves as a bridge between IID, the factor which initially recognizes the promoter sequence, and RNA polymerase II. [provided by RefSeq, Jul 2008]
GTF2E1	chr3	120742637	120783069	+	ENSG00000153767.9	protein_coding	FE|TF2E1|TFIIE-A	3q13.33	general transcription factor IIE subunit 1	Ubiquitous expression in testis (RPKM 6.1), lymph node (RPKM 3.7) and 25 other tissues
GTF2E2	chr8	30578318	30658251	-	ENSG00000197265.8	protein_coding	FE|TF2E2|TFIIE-B|TTD6	8p12	general transcription factor IIE subunit 2	The general transcription factor IIE (TFIIE) is part of the RNA polymerase II transcription initiation complex, recruiting TFIIH and being essential for promoter clearance by RNA polymerase II. TFIIE is a heterodimer (and sometimes heterotetramer) of alpha and beta subunits. The protein encoded by this gene represents the beta subunit of TFIIE. [provided by RefSeq, Jan 2017]
GTF2F1	chr19	6379569	6393981	-	ENSG00000125651.13	protein_coding	BTF4|RAP74|TF2F1|TFIIF	19p13.3	general transcription factor IIF subunit 1	Ubiquitous expression in ovary (RPKM 36.8), testis (RPKM 30.9) and 25 other tissues
GTF2H1	chr11	18322295	18367044	+	ENSG00000110768.11	protein_coding	BTF2|P62|TFB1|TFIIH	11p15.1	general transcription factor IIH subunit 1	Ubiquitous expression in testis (RPKM 18.1), thyroid (RPKM 12.6) and 25 other tissues
GTF2H2C	chr5	69560208	69594723	+	ENSG00000183474.15	protein_coding	GTF2H2C_2	5q13.2	GTF2H2 family member C	Ubiquitous expression in testis (RPKM 16.2), thyroid (RPKM 13.7) and 25 other tissues
GTF2H3	chr12	123633739	123662606	+	ENSG00000111358.13	protein_coding	BTF2|P34|TFB4|TFIIH	12q24.31	general transcription factor IIH subunit 3	This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision repair and associates with the Cdk-activating kinase complex. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 14. [provided by RefSeq, Dec 2012]
GTF2H4	chr6	30908184	30914106	+	ENSG00000213780.10	protein_coding	P52|TFB2|TFIIH	6p21.33	general transcription factor IIH subunit 4	Ubiquitous expression in appendix (RPKM 9.1), endometrium (RPKM 8.7) and 25 other tissues
GTF2H5	chr6	158168352	158199344	+	ENSG00000272047.1	protein_coding	C6orf175|TFB5|TFIIH|TGF2H5|TTD|TTD-A|TTD3|TTDA|bA120J8.2	6q25.3	general transcription factor IIH subunit 5	This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009]
GTF2I	chr7	74657667	74760692	+	ENSG00000263001.5	protein_coding	BAP135|BTKAP1|DIWS|GTFII-I|IB291|SPIN|TFII-I|WBS|WBSCR6	7q11.23	general transcription factor IIi	This gene encodes a phosphoprotein containing six characteristic repeat motifs. The encoded protein binds to the initiator element (Inr) and E-box element in promoters and functions as a regulator of transcription. This locus, along with several other neighboring genes, is deleted in Williams-Beuren syndrome. There are many closely related genes and pseudogenes for this gene on chromosome 7. This gene also has pseudogenes on chromosomes 9, 13, and 21. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2013]
GTF2IP1	chr7	75185385	75237696	-	ENSG00000277053.4	transcribed_unprocessed_pseudogene	WBSCR7	7q11.23	general transcription factor IIi pseudogene 1	Ubiquitous expression in brain (RPKM 127.2), thyroid (RPKM 95.5) and 25 other tissues
GTF2IP11	chr11	50100892	50102898	-	ENSG00000255199.2	unprocessed_pseudogene	-	11p11.12	general transcription factor IIi pseudogene 11	-
GTF2IP12	chr4	119407967	119454638	-	ENSG00000283050.1	transcribed_unprocessed_pseudogene	-	4q26	general transcription factor IIi pseudogene 12	-
GTF2IP23	chr7	66880708	66882981	+	ENSG00000230295.1	unprocessed_pseudogene	-	7q11.21	general transcription factor IIi pseudogene 23	-
GTF2IP3	chr13	19026001	19032626	-	ENSG00000187721.8	unprocessed_pseudogene	-	13q12.11	general transcription factor IIi pseudogene 3	-
GTF2IP4	chr7	73154938	73207283	+	ENSG00000233369.7	transcribed_processed_pseudogene	GTF2I	7q11.23	general transcription factor IIi pseudogene 4	Ubiquitous expression in brain (RPKM 129.8), thyroid (RPKM 92.9) and 25 other tissues
GTF2IP5	chr7	65773620	65802067	+	ENSG00000224316.1	unprocessed_pseudogene	-	7q11.21	general transcription factor IIi pseudogene 5	-
GTF2IP7	chr7	76090431	76108779	-	ENSG00000227038.3	transcribed_unprocessed_pseudogene	-	7q11.23	general transcription factor IIi pseudogene 7	-
GTF2IP9	chr7	66407288	66409239	-	ENSG00000251451.1	transcribed_unprocessed_pseudogene	-	7q11.21	general transcription factor IIi pseudogene 9	-
GTF2IRD1	chr7	74453790	74602604	+	ENSG00000006704.10	protein_coding	BEN|CREAM1|GTF3|MUSTRD1|RBAP2|WBS|WBSCR11|WBSCR12|hMusTRD1alpha1	7q11.23	GTF2I repeat domain containing 1	The protein encoded by this gene contains five GTF2I-like repeats and each repeat possesses a potential helix-loop-helix (HLH) motif. It may have the ability to interact with other HLH-proteins and function as a transcription factor or as a positive transcriptional regulator under the control of Retinoblastoma protein. This gene plays a role in craniofacial and cognitive development and mutations have been associated with Williams-Beuren syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
GTF2IRD1P1	chr7	66809993	66844826	-	ENSG00000230583.6	transcribed_unprocessed_pseudogene	-	7q11.21	GTF2I repeat domain containing 1 pseudogene 1	-
GTF2IRD2	chr7	74796144	74851551	-	ENSG00000196275.13	protein_coding	FP630|GTF2IRD2 alpha|GTF2IRD2A	7q11.23	GTF2I repeat domain containing 2	This gene is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
GTF2IRD2B	chr7	75092573	75149817	+	ENSG00000174428.16	protein_coding	GTF2IRD2|GTF2IRD2A	7q11.23	GTF2I repeat domain containing 2B	This gene encodes a glycosylated phosphoprotein with a leucine zipper motif, two helix-loop-helix motifs (I repeats) that are similar to domains found in the TFII-I family of transcription factors, one CHARLIE8 transposable element-like sequence, and a BED zinc finger. This gene lies within a region that is deleted in Williams-Beuren syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
GTF2IRD2P1	chr7	73242751	73280119	-	ENSG00000214544.7	transcribed_unprocessed_pseudogene	GTF2IRD2P	7q11.23	GTF2I repeat domain containing 2 pseudogene 1	-
GTF3A	chr13	27424544	27435823	+	ENSG00000122034.14	protein_coding	AP2|TFIIIA	13q12.2	general transcription factor IIIA	The product of this gene is a zinc finger protein with nine Cis[2]-His[2] zinc finger domains. It functions as an RNA polymerase III transcription factor to induce transcription of the 5S rRNA genes. The protein binds to a 50 bp internal promoter in the 5S genes called the internal control region (ICR), and nucleates formation of a stable preinitiation complex. This complex recruits the TFIIIC and TFIIIB transcription factors and RNA polymerase III to form the complete transcription complex. The protein is thought to be translated using a non-AUG translation initiation site in mammals based on sequence analysis, protein homology, and the size of the purified protein. [provided by RefSeq, Jul 2008]
GTF3C2	chr2	27325849	27357034	-	ENSG00000115207.13	protein_coding	TF3C-beta|TFIIIC-BETA|TFIIIC110	2p23.3	general transcription factor IIIC subunit 2	Ubiquitous expression in thyroid (RPKM 13.6), skin (RPKM 10.5) and 25 other tissues
GTF3C3	chr2	196763032	196799725	-	ENSG00000119041.10	protein_coding	TFIIIC102|TFIIICgamma|TFiiiC2-102	2q33.1	general transcription factor IIIC subunit 3	The protein encoded by this gene is part of the TFIIIC2 complex, which binds to the promoters of small nuclear and cytoplasmic RNA genes in order to recruit RNA polymerase III. The TFIIIC2 complex is composed of six subunits. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
GTF3C4	chr9	132670035	132694955	+	ENSG00000125484.11	protein_coding	KAT12|TF3C-delta|TFIII90|TFIIIC290|TFIIIC90|TFIIICDELTA	9q34.13	general transcription factor IIIC subunit 4	Ubiquitous expression in thyroid (RPKM 5.9), testis (RPKM 5.5) and 25 other tissues
GTF3C6	chr6	110958560	110967890	+	ENSG00000155115.6	protein_coding	C6orf51|TFIIIC35|bA397G5.3	6q21	general transcription factor IIIC subunit 6	RNA polymerases are unable to initiate RNA synthesis in the absence of additional proteins called general transcription factors (GTFs). GTFs assemble in a complex on the DNA promoter and recruit the RNA polymerase. GTF3C family proteins (e.g., GTF3C1, MIM 603246) are essential for RNA polymerase III to make a number of small nuclear and cytoplasmic RNAs, including 5S RNA (MIM 180420), tRNA, and adenovirus-associated (VA) RNA of both cellular and viral origin.[supplied by OMIM, Mar 2008]
GTPBP1	chr22	38705723	38738299	+	ENSG00000100226.15	protein_coding	GP-1|GP1|HSPC018	22q13.1	GTP binding protein 1	This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable phenotype. [provided by RefSeq, Jul 2008]
GTPBP10	chr7	90335223	90391455	+	ENSG00000105793.15	protein_coding	ObgH2|UG0751c10	7q21.13	GTP binding protein 10	Small G proteins, such as GTPBP10, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]
GTPBP2	chr6	43605316	43629162	-	ENSG00000172432.18	protein_coding	JABELS	6p21.1	GTP binding protein 2	GTP-binding proteins, or G proteins, constitute a superfamily capable of binding GTP or GDP. G proteins are activated by binding GTP and are inactivated by hydrolyzing GTP to GDP. This general mechanism enables G proteins to perform a wide range of biologic activities.[supplied by OMIM, Jan 2003]
GTPBP3	chr19	17334920	17342735	+	ENSG00000130299.16	protein_coding	COXPD23|GTPBG3|MSS1|MTGP1|THDF1	19p13.11	GTP binding protein 3, mitochondrial	This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010]
GTPBP4	chr10	988019	1019936	+	ENSG00000107937.18	protein_coding	CRFG|NGB|NOG1	10p15.3	GTP binding protein 4	GTP-binding proteins are GTPases and function as molecular switches that can flip between two states: active, when GTP is bound, and inactive, when GDP is bound. Active in this context usually means that the molecule acts as a signal to trigger other events in the cell. When an extracellular ligand binds to a G-protein-linked receptor, the receptor changes its conformation and switches on the trimeric G proteins that associate with it by causing them to eject their GDP and replace it with GTP. The switch is turned off when the G protein hydrolyzes its own bound GTP, converting it back to GDP. But before that occurs, the active protein has an opportunity to diffuse away from the receptor and deliver its message for a prolonged period to its downstream target. [provided by RefSeq, Jul 2008]
GTPBP8	chr3	112990918	113015060	+	ENSG00000163607.15	protein_coding	HSPC135	3q13.2	GTP binding protein 8 (putative)	Ubiquitous expression in testis (RPKM 4.6), thyroid (RPKM 3.8) and 25 other tissues
GTSE1	chr22	46296741	46330810	+	ENSG00000075218.18	protein_coding	B99	22q13.31	G2 and S-phase expressed 1	The protein encoded by this gene is only expressed in the S and G2 phases of the cell cycle, where it colocalizes with cytoplasmic tubulin and microtubules. In response to DNA damage, the encoded protein accumulates in the nucleus and binds the tumor suppressor protein p53, shuttling it out of the nucleus and repressing its ability to induce apoptosis. [provided by RefSeq, Jul 2008]
GTSF1	chr12	54455950	54473602	-	ENSG00000170627.10	protein_coding	Cue110|FAM112B	12q13.13	gametocyte specific factor 1	Restricted expression toward testis (RPKM 49.6)
GUCA1A	chr6	42155406	42180056	+	ENSG00000048545.13	protein_coding	C6orf131|COD3|CORD14|GCAP|GCAP1|GUCA|GUCA1	6p21.1	guanylate cyclase activator 1A	This gene encodes an enzyme that plays a role in the recovery of retinal photoreceptors from photobleaching. This enzyme promotes the activity of retinal guanylyl cyclase-1 (GC1) at low calcium concentrations and inhibits GC1 at high calcium concentrations. Mutations in this gene can cause cone dystrophy 3 and code-rod dystrophy 14. provided by RefSeq, Jul 2020]
GUCA1B	chr6	42184401	42194916	-	ENSG00000112599.8	protein_coding	GCAP 2|GCAP2|GUCA2|RP48	6p21.1	guanylate cyclase activator 1B	The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it on chromosome 6. Mutations in this gene can cause a form of retinitis pigmentosa. [provided by RefSeq, Nov 2009]
GUCA2A	chr1	42162691	42164718	-	ENSG00000197273.3	protein_coding	GCAP-I|GUCA2|STARA	1p34.2	guanylate cyclase activator 2A	Biased expression in small intestine (RPKM 352.1), colon (RPKM 198.7) and 1 other tissue
GUCD1	chr22	24540423	24555935	-	ENSG00000138867.16	protein_coding	C22orf13|LLN4	22q11.23	guanylyl cyclase domain containing 1	Ubiquitous expression in bone marrow (RPKM 29.5), duodenum (RPKM 28.4) and 25 other tissues
GUCY1A1	chr4	 155666848	155737059	+	ENSG00000164116	protein-coding	GC-S-alpha-1|GC-SA3|GCS-alpha-3|GUC1A3|GUCA3|GUCSA3|GUCY1A3|MYMY6	4q32.1	guanylate cyclase 1 soluble subunit alpha 1	Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3,5-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
GUCY1B1	chr4	 155759021	155807811	+	ENSG00000061918	protein-coding	GC-S-beta-1|GC-SB3|GUC1B3|GUCB3|GUCSB3|GUCY1B3	4q32.1	guanylate cyclase 1 soluble subunit beta 1	This gene encodes the beta subunit of the soluble guanylate cyclase (sGC), which catalyzes the conversion of GTP (guanosine triphosphate) to cGMP (cyclic guanosine monophosphate). The encoded protein contains an HNOX domain, which serves as a receptor for ligands such as nitric oxide, oxygen and nitrovasodilator drugs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
GUCY2C	chr12	14612632	14696585	-	ENSG00000070019.4	protein_coding	DIAR6|GC-C|GUC2C|MECIL|MUCIL|STAR	12p12.3	guanylate cyclase 2C	This gene encodes a transmembrane protein that functions as a receptor for endogenous peptides guanylin and uroguanylin, and the heat-stable E. coli enterotoxin. The encoded protein activates the cystic fibrosis transmembrane conductance regulator. Mutations in this gene are associated with familial diarrhea (autosomal dominant) and meconium ileus (autosomal recessive). [provided by RefSeq, Nov 2016]
GUCY2D	chr17	8002594	8020339	+	ENSG00000132518.6	protein_coding	CACD1|CG-E|CORD5|CORD6|CSNB1I|CYGD|GUC1A4|GUC2D|LCA|LCA1|RCD2|RETGC-1|ROS-GC1|ROSGC|retGC	17p13.1	guanylate cyclase 2D, retinal	This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq, Dec 2008]
GUF1	chr4	44678427	44700926	+	ENSG00000151806.13	protein_coding	DEE40|EF-4|EF4|EIEE40	4p12	GTP binding elongation factor GUF1	This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
GUK1	chr1	228139962	228148984	+	ENSG00000143774.16	protein_coding	GMK	1q42.13	guanylate kinase 1	The protein encoded by this gene is an enzyme that catalyzes the transfer of a phosphate group from ATP to guanosine monophosphate (GMP) to form guanosine diphosphate (GDP). The encoded protein is thought to be a good target for cancer chemotherapy. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
GULOP	chr8	27560274	27589073	+	ENSG00000234770.1	unitary_pseudogene	GULO|SCURVY	8p21.1	gulonolactone (L-) oxidase, pseudogene	This gene is nonfunctional in humans and other primates. In most mammalian species the corresponding gene encodes L-gulono-gamma-lactone oxidase which catalyzes the last step of ascorbic acid biosynthesis. The human gene is a remnant that lacks five of twelve exons found in functional rodent genes. The loss of enzyme activity results in hypoascorbemia or the inability to synthesize vitamin C. [provided by RefSeq, Nov 2010]
GULP1	chr2	188291669	188595931	+	ENSG00000144366.15	protein_coding	CED-6|CED6|GULP	2q32.1-q32.2	GULP PTB domain containing engulfment adaptor 1	The protein encoded by this gene is an adapter protein necessary for the engulfment of apoptotic cells by phagocytes. Several transcript variants, some protein coding and some thought not to be protein coding, have been found for this gene. [provided by RefSeq, Nov 2011]
GUSB	chr7	65960684	65982314	-	ENSG00000169919.16	protein_coding	BG|MPS7	7q11.21	glucuronidase beta	This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. Alternative splicing results in multiple transcript variants. There are many pseudogenes of this locus in the human genome.[provided by RefSeq, May 2014]
GUSBP2	chr6	26871484	26956554	-	ENSG00000241549.8	transcribed_unprocessed_pseudogene	GUSBL1|GUSBP4|SMA3-L|SMAC3L|SMAC3L2|b55C20.1|bA239L20.1|bA239L20.5|bGLU-Lp	6p22.2	GUSB pseudogene 2	Broad expression in testis (RPKM 20.4), thyroid (RPKM 9.5) and 25 other tissues
GUSBP3	chr5	69639459	69679259	-	ENSG00000253203.6	transcribed_unprocessed_pseudogene	GUSBP1|SMA3	5q13.2	GUSB pseudogene 3	Broad expression in testis (RPKM 23.2), thyroid (RPKM 10.1) and 24 other tissues
GUSBP5	chr4	143559472	143649305	+	ENSG00000236296.7	transcribed_processed_pseudogene	GYPELOC441046	4q31.21	GUSB pseudogene 5	-
GVQW1	chr9	32566789	32568621	+	ENSG00000241043.1	protein_coding	-	-	-	-
GXYLT1	chr12	42081845	42144879	-	ENSG00000151233.10	protein_coding	GLT8D3	12q12	glucoside xylosyltransferase 1	GXYLT1 is a xylosyltransferase (EC 2.4.2.-) that adds the first xylose to O-glucose-modified residues in the epidermal growth factor (EGF; MIM 131530) repeats of proteins such as NOTCH1 (MIM 190198) (Sethi et al., 2010 [PubMed 19940119]).[supplied by OMIM, Mar 2010]
GXYLT2	chr3	72888073	72998138	+	ENSG00000172986.12	protein_coding	GLT8D4	3p13	glucoside xylosyltransferase 2	The protein encoded by this gene is a xylosyltransferase that elongates O-linked glucose bound to epidermal growth factor (EGF) repeats. The encoded protein catalyzes the addition of xylose to the O-glucose-modified residues of EGF repeats of Notch proteins. [provided by RefSeq, Sep 2016]
GYG1	chr3	148991341	149027668	+	ENSG00000163754.17	protein_coding	GSD15|GYG	3q24	glycogenin 1	This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
GYPA	chr4	144109303	144140751	-	ENSG00000170180.19	protein_coding	CD235a|GPA|GPErik|GPSAT|HGpMiV|HGpMiXI|HGpSta(C)|MN|MNS|PAS-2	4q31.21	glycophorin A (MNS blood group)	Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. In addition to the M or N and S or s antigens that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta, as well as Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq, Jul 2008]
GYPB	chr4	143996104	144019345	-	ENSG00000250361.7	protein_coding	CD235b|GPB|GYP|GYPA|MNS|PAS-3|SS	4q31.21	glycophorin B (MNS blood group)	Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. GYPB gene consists of 5 exons and has 97% sequence homology with GYPA from the 5 UTR to the coding sequence encoding the first 45 amino acids. In addition to the M or N and S or s antigens, that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta; also, Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
GYPC	chr2	126655933	126696675	+	ENSG00000136732.14	protein_coding	CD236|CD236R|GE|GPC|GPD|GYPD|PAS-2|PAS-2'	2q14.3	glycophorin C (Gerbich blood group)	Glycophorin C (GYPC) is an integral membrane glycoprotein. It is a minor species carried by human erythrocytes, but plays an important role in regulating the mechanical stability of red cells. A number of glycophorin C mutations have been described. The Gerbich and Yus phenotypes are due to deletion of exon 3 and 2, respectively. The Webb and Duch antigens, also known as glycophorin D, result from single point mutations of the glycophorin C gene. The glycophorin C protein has very little homology with glycophorins A and B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
GYPE	chr4	143870867	143905563	-	ENSG00000197465.13	protein_coding	GPE|GYPA|MNS|MiIX	4q31.21	glycophorin E (MNS blood group)	The protein encoded by this gene is a sialoglycoprotein and a type I membrane protein. It is a member of a gene family with GPA and GPB genes. This encoded protein might carry the M blood group antigen. GYPA, GYPB, and GYPE are organized in tandem on chromosome 4. This gene might have derived from an ancestral gene common to the GPB gene by gene duplication. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
GYS1	chr19	48968125	48993310	-	ENSG00000104812.14	protein_coding	GSY|GYS	19q13.33	glycogen synthase 1	The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
GZMA	chr5	55102648	55110252	+	ENSG00000145649.7	protein_coding	CTLA3|HFSP	5q11.2	granzyme A	Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface nonself antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here is a T cell- and natural killer cell-specific serine protease that may function as a common component necessary for lysis of target cells by cytotoxic T lymphocytes and natural killer cells. [provided by RefSeq, Jul 2008]
GZMB	chr14	24630954	24634267	-	ENSG00000100453.12	protein_coding	C11|CCPI|CGL-1|CGL1|CSP-B|CSPB|CTLA1|CTSGL1|HLP|SECT	14q12	granzyme B	This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Expression of this gene may be elevated in human patients with cardiac fibrosis. [provided by RefSeq, Sep 2016]
GZMH	chr14	24606480	24609699	-	ENSG00000100450.12	protein_coding	CCP-X|CGL-2|CSP-C|CTLA1|CTSGL2	14q12	granzyme H	This gene encodes a member of the peptidase S1 family of serine proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a chymotrypsin-like protease. This protein is reported to be constitutively expressed in the NK (natural killer) cells of the immune system and may play a role in the cytotoxic arm of the innate immune response by inducing target cell death and by directly cleaving substrates in pathogen-infected cells. This gene is present in a gene cluster with another member of the granzyme subfamily on chromosome 14. [provided by RefSeq, Nov 2015]
GZMK	chr5	55024253	55034570	+	ENSG00000113088.5	protein_coding	TRYP2	5q11.2	granzyme K	This gene product is a member of a group of related serine proteases from the cytoplasmic granules of cytotoxic lymphocytes. Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface nonself antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here lacks consensus sequences for N-glycosylation present in other granzymes. [provided by RefSeq, Jul 2008]
GZMM	chr19	544034	549924	+	ENSG00000197540.7	protein_coding	LMET1|MET1	19p13.3	granzyme M	Human natural killer (NK) cells and activated lymphocytes express and store a distinct subset of neutral serine proteases together with proteoglycans and other immune effector molecules in large cytoplasmic granules. These serine proteases are collectively termed granzymes and include 4 distinct gene products: granzyme A, granzyme B, granzyme H, and the protein encoded by this gene, granzyme M. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
H1-0	chr22	 37805229	37807432	+	ENSG00000189060	protein-coding	H1.0|H10|H1F0|H1FV	22q13.1	H1.0 linker histone	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-independent histone that is a member of the histone H1 family. [provided by RefSeq, Oct 2015]
H1-1	chr6	 26017032	26017787	-	ENSG00000124610	protein-coding	H1.1|H1A|H1F1|HIST1|HIST1H1A	6p22.2	H1.1 linker histone, cluster member	Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
H1-10	chr3	 129314771	129316286	-	ENSG00000184897	protein-coding	H1.10|H1FX|H1X	3q21.3	H1.10 linker histone	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H1 family. [provided by RefSeq, Oct 2015]
H1-10-AS1	chr3	 129316271	129324569	+	-	ncRNA	C3orf47|H1FX-AS1	3q21.3	H1-10 antisense RNA 1	-
H1-12P	chr6	 26195566	26195771	+	-	pseudogene	H1F6P|HIST1H1PS1|dJ34B20.16	6p22.2	H1.12 linker histone, cluster member pseudogene	-
H1-2	chr6	 26055740	26056470	-	ENSG00000187837	protein-coding	H1.2|H1C|H1F2|H1s-1|HIST1H1C	6p22.2	H1.2 linker histone, cluster member	Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
H1-3	chr6	 26234212	26234987	-	ENSG00000124575	protein-coding	H1.3|H1D|H1F3|H1s-2|HIST1H1D	6p22.2	H1.3 linker histone, cluster member	Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
H1-4	chr6	 26156329	26157115	+	ENSG00000168298	protein-coding	H1.4|H1E|H1F4|H1s-4|HIST1H1E|RMNS|dJ221C16.5	6p22.2	H1.4 linker histone, cluster member	Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
H1-5	chr6	 27866792	27867588	-	ENSG00000184357	protein-coding	H1|H1.5|H1B|H1F5|H1s-3|HIST1H1B	6p22.1	H1.5 linker histone, cluster member	Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H1-6	chr6	 26107412	26108135	-	ENSG00000187475	protein-coding	H1.6|H1FT|H1t|HIST1H1T|dJ221C16.2	6p22.2	H1.6 linker histone, cluster member	Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
H1-7	chr12	 48328980	48330279	+	ENSG00000187166	protein-coding	H1.7|H1FNT|H1T2	12q13.11	H1.7 linker histone	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-independent histone that is a member of the histone H1 family. The related mouse gene encodes a testis specific protein that is required for spermatogenesis and male fertility. [provided by RefSeq, Oct 2015]
H2AC11	chr6	 27133043	27133535	+	ENSG00000196787	protein-coding	H2A.1b|H2A/p|H2AC13|H2AC15|H2AC16|H2AC17|H2AFP|H2AG|HIST1H2AG|pH2A/f	6p22.1	H2A clustered histone 11	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]
H2AC12	chr6	 27147106	27147562	+	ENSG00000274997	protein-coding	H2A/S|H2AFALii|H2AH|HIST1H2AH|dJ86C11.1	6p22.1	H2A clustered histone 12	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]
H2AC13	chr6	 27808173	27808667	+	ENSG00000196747	protein-coding	H2A/c|H2AC11|H2AC15|H2AC16|H2AC17|H2AFC|HIST1H2AI	6p22.1	H2A clustered histone 13	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H2AC15	chr6	 27837880	27838375	-	ENSG00000275221	protein-coding	H2A.1|H2A/d|H2AC11|H2AC13|H2AC14|H2AC16|H2AC17|H2AFD|HIST1H2AK	6p22.1	H2A clustered histone 15	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H2AC16	chr6	 27865317	27865798	+	ENSG00000276903	protein-coding	H2A.i|H2A/i|H2AC11|H2AC13|H2AC15|H2AC17|H2AFI|HIST1H2AL|dJ193B12.9	6p22.1	H2A clustered histone 16	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H2AC18	chr1	 149842218	149842750	-	ENSG00000288825	protein-coding	H2A|H2A.2|H2A/O|H2A/q|H2AC19|H2AFO|H2a-615|HIST2H2AA|HIST2H2AA3	1q21.2	H2A clustered histone 18	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the centromeric copy. [provided by RefSeq, Aug 2015]
H2AC19	chr1	 149851061	149851594	+	ENSG00000288859	protein-coding	H2A/R|H2AC18|HIST2H2AA4	1q21.2	H2A clustered histone 19	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. [provided by RefSeq, Aug 2015]
H2AC20	chr1	 149886918	149887411	+	ENSG00000184260	protein-coding	H2A|H2A-GL101|H2A/q|H2AFQ|HIST2H2AC	1q21.2	H2A clustered histone 20	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. [provided by RefSeq, Aug 2015]
H2AC21	chr1	 149887469	149887965	-	ENSG00000184270	protein-coding	H2AB|HIST2H2AB	1q21.2	H2A clustered histone 21	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]
H2AC2P	chr6	 25732381	25737705	+	-	pseudogene	H2AFSP|HIST1H2APS1|bA317E16.5	6p22.2	H2A clustered histone 2, pseudogene	-
H2AC4	chr6	 26033092	26033618	-	ENSG00000278463	protein-coding	H2A/m|H2AC8|H2AFM|HIST1H2AB	6p22.2	H2A clustered histone 4	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H2AC5P	chr6	 26043900	26044550	+	-	pseudogene	H2AFFP|HIST1H2APS5|pH2A/f	6p22.2	H2A clustered histone 5, pseudogene	Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This histone pseudogene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Oct 2015]
H2AC6	chr6	 26124172	26124690	+	ENSG00000180573	protein-coding	H2A/l|H2AFL|HIST1H2AC|dJ221C16.4	6p22.2	H2A clustered histone 6	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
H2AC7	chr6	 26198784	26199293	-	ENSG00000196866	protein-coding	H2A.3|H2A/g|H2AFG|HIST1H2AD	6p22.2	H2A clustered histone 7	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H2AC8	chr6	 26216921	26217437	+	ENSG00000277075	protein-coding	H2A.1|H2A.2|H2A/a|H2AC4|H2AFA|HIST1H2AE	6p22.2	H2A clustered histone 8	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H2AJ	chr12	 14774405	14778002	+	ENSG00000246705	protein-coding	H2AFJ	12p12.3	H2A.J histone	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is located on chromosome 12 and encodes a replication-independent histone that is a variant H2A histone. The protein is divergent at the C-terminus compared to the consensus H2A histone family member. This gene also encodes an antimicrobial peptide with antibacterial and antifungal activity.[provided by RefSeq, Oct 2015]
H2AW	chr1	 228457364	228457873	-	ENSG00000181218	protein-coding	HIST3H2A	1q42.13	H2A.W histone	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]
H2AX	chr11	 119093874	119095465	-	ENSG00000188486	protein-coding	H2A.X|H2A/X|H2AFX	11q23.3	H2A.X variant histone	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-independent histone that is a member of the histone H2A family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Oct 2015]
H2AZ1	chr4	 99948088	99950275	-	ENSG00000164032	protein-coding	H2A.Z-1|H2A.z|H2A/z|H2AFZ|H2AZ	4q23	H2A.Z variant histone 1	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. [provided by RefSeq, Jul 2008]
H2AZ2	chr7	 44826889	44848126	-	ENSG00000105968	protein-coding	H2A.Z-2|H2AFV|H2AV	7p13	H2A.Z variant histone 2	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. Several transcript variants encoding different isoforms, have been identified for this gene. [provided by RefSeq, Oct 2015]
H2BC1	chr6	 25726777	25727345	+	ENSG00000146047	protein-coding	H2BFU|HIST1H2BA|STBP|TH2B|TSH2B|TSH2B.1|bA317E16.3|hTSH2B	6p22.2	H2B clustered histone 1	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a testis/sperm-specific member of the histone H2B family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]
H2BC11	chr6	 27132316	27132795	-	ENSG00000124635	protein-coding	H2B/r|H2BFR|H2BJ|HIST1H2BJ	6p22.1	H2B clustered histone 11	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]
H2BC12	chr6	 27138293	27146858	-	ENSG00000197903	protein-coding	H2B/S|H2BFAiii|H2BFT|H2BK|HIST1H2BK	6p22.1	H2B clustered histone 12	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-dependent histone that is a member of the histone H2B family. The protein encoded is an antimicrobial protein with antibacterial and antifungal activity. Two transcripts that encode the same protein have been identified for this gene, which is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]
H2BC13	chr6	 27807479	27807929	-	ENSG00000185130	protein-coding	H2B/c|H2BFC|HIST1H2BL|dJ97D16.4	6p22.1	H2B clustered histone 13	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H2BC15	chr6	 27838569	27839110	+	ENSG00000233822	protein-coding	H2B/d|H2BFD|HIST1H2BN	6p22.1	H2B clustered histone 15	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H2BC17	chr6	 27893425	27893891	+	ENSG00000274641	protein-coding	H2B.2|H2B/n|H2BFN|HIST1H2BO|dJ193B12.2	6p22.1	H2B clustered histone 17	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H2BC18	chr1	 149782689	149812370	-	ENSG00000203814	protein-coding	HIST2H2BF	1q21.2	H2B clustered histone 18	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-dependent histone that is a member of the histone H2B family and is found in a histone cluster on chromosome 1. [provided by RefSeq, Aug 2015]
H2BC20P	chr1	 149850192	149850773	-	ENSG00000261716	pseudogene	H2B/t|HIST2H2BC|HIST2H2BD	1q21.2	H2B clustered histone 20, pseudogene	Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is found in a histone cluster on chromosome 1. [provided by RefSeq, Oct 2015]
H2BC21	chr1	 149884459	149886682	-	ENSG00000184678	protein-coding	GL105|H2B|H2B-GL105|H2B.1|H2BE|H2BFQ|H2BGL105|H2BQ|HIST2H2BE	1q21.2	H2B clustered histone 21	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-dependent histone that is a member of the histone H2B family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. The protein has antibacterial and antifungal antimicrobial activity. [provided by RefSeq, Aug 2015]
H2BC3	chr6	 26043227	26043713	-	ENSG00000276410	protein-coding	H2B.1|H2B/f|H2BFF|HIST1H2BB	6p22.2	H2B clustered histone 3	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H2BC5	chr6	 26158121	26171349	+	ENSG00000158373	protein-coding	H2B.1B|H2B/a|H2B/b|H2B/g|H2B/h|H2B/k|H2B/l|H2BFA|H2BFB|H2BFG|H2BFH|H2BFK|H2BFL|HIRIP2|HIST1H2BC|HIST1H2BD|HIST1H2BE|HIST1H2BF|HIST1H2BG|HIST1H2BI|dJ221C16.6	6p22.2	H2B clustered histone 5	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Two transcripts that encode the same protein have been identified for this gene, which is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H2BC9	chr6	 26251614	26252075	+	ENSG00000275713	protein-coding	H2B/j|H2BFJ|HIST1H2BH	6p22.2	H2B clustered histone 9	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
H2BP1	chr1	 121107175	121117292	-	ENSG00000223345	pseudogene	HIST2H2BA	1p11.2	H2B histone pseudogene 1	Broad expression in ovary (RPKM 2.4), prostate (RPKM 2.1) and 20 other tissues
H2BU2P	chr1	 228464170	228464575	-	ENSG00000181201	pseudogene	HIST3H2BA	1q42.13	H2B.U histone 2, pseudogene	-
H3-3A	chr1	 226061831	226072019	+	ENSG00000163041	protein-coding	H3-3B|H3.3A|H3F3|H3F3A	1q42.12	H3.3 histone A	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded is a replication-independent member of the histone H3 family. [provided by RefSeq, Jul 2008]
H3-3B	chr17	 75776434	75779779	-	ENSG00000132475	protein-coding	H3-3A|H3.3B|H3F3B	17q25.1	H3.3 histone B	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded by this gene is a replication-independent histone that is a member of the histone H3 family. Pseudogenes of this gene have been identified on the X chromosome, and on chromosomes 5, 13 and 17. [provided by RefSeq, Oct 2015]
H3-5	chr12	 31791185	31792298	-	ENSG00000188375	protein-coding	H3.5|H3F3C	12p11.21	H3.5 histone	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded by this gene is a replication-independent histone that is a member of the histone H3 family. [provided by RefSeq, Oct 2015]
H3-7	chr1	 143902386	143905977	-	ENSG00000273213	protein-coding	H3-2|H3.7|HIST2H3PS2|p06	1q21.1	H3.7 histone (putative)	-
H3C1	chr6	 26020451	26020958	+	ENSG00000275714	protein-coding	H3/A|H3C10|H3C11|H3C12|H3C2|H3C3|H3C4|H3C6|H3C7|H3C8|H3FA|HIST1H3A	6p22.2	H3 clustered histone 1	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H3C10	chr6	 27810051	27810536	+	ENSG00000278828	protein-coding	H3/k|H3C1|H3C11|H3C12|H3C2|H3C3|H3C4|H3C6|H3C7|H3C8|H3F1K|H3FK|HIST1H3H	6p22.1	H3 clustered histone 10	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H3C11	chr6	 27871845	27872346	-	ENSG00000275379	protein-coding	H3.f|H3/f|H3C1|H3C10|H3C12|H3C2|H3C3|H3C4|H3C6|H3C7|H3C8|H3FF|HIST1H3I	6p22.1	H3 clustered histone 11	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H3C12	chr6	 27890315	27890826	-	ENSG00000197153	protein-coding	H3/j|H3C1|H3C10|H3C11|H3C2|H3C3|H3C4|H3C6|H3C7|H3C8|H3FJ|HIST1H3J	6p22.1	H3 clustered histone 12	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H3C13	chr1	 149813225	149813693	-	ENSG00000183598	protein-coding	H3C14|H3C15|HIST2H3D	1q21.2	H3 clustered histone 13	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. [provided by RefSeq, Aug 2015]
H3C14	chr1	 149840687	149841208	-	ENSG00000203811	protein-coding	H3|H3.2|H3/M|H3C13|H3C15|H3F2|H3FM|H3FN|HIST2H3C	1q21.2	H3 clustered histone 14	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the telomeric copy. [provided by RefSeq, Aug 2015]
H3C2	chr6	 26031589	26032099	-	ENSG00000286522	protein-coding	H3/l|H3C1|H3C10|H3C11|H3C12|H3C3|H3C4|H3C6|H3C7|H3C8|H3FL|HIST1H3B	6p22.2	H3 clustered histone 2	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H3C3	chr6	 26045384	26045869	+	ENSG00000287080	protein-coding	H3.1|H3/c|H3C1|H3C10|H3C11|H3C12|H3C2|H3C4|H3C6|H3C7|H3C8|H3FC|HIST1H3C	6p22.2	H3 clustered histone 3	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
H3C4	chr6	 26196784	26199293	-	ENSG00000197409	protein-coding	H3/b|H3C1|H3C10|H3C11|H3C12|H3C2|H3C3|H3C6|H3C7|H3C8|H3FB|HIST1H3D	6p22.2	H3 clustered histone 4	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
H3C6	chr6	 26224178	26227473	+	ENSG00000274750	protein-coding	H3.1|H3/d|H3C1|H3C10|H3C11|H3C12|H3C2|H3C3|H3C4|H3C7|H3C8|H3FD|HIST1H3E	6p22.2	H3 clustered histone 6	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
H3C8	chr6	 26270918	26271413	-	ENSG00000273983	protein-coding	H3/h|H3C1|H3C10|H3C11|H3C12|H3C2|H3C3|H3C4|H3C6|H3C7|H3FH|HIST1H3G	6p22.2	H3 clustered histone 8	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
H3C9P	chr6	 26321876	26322292	-	ENSG00000220875	pseudogene	H3F3AP1|HIST1H3PS1|dJ45P21.6|p36	6p22.2	H3 clustered histone 9, pseudogene	Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is a histone pseudogene found on chromosome 6. [provided by RefSeq, Oct 2015]
H3P4	chr1	 121059763	121118626	-	-	pseudogene	HIST2H3DP1|p05	1p11.2	H3 histone pseudogene 4	-
H3P6	chr2	 174719800	174720858	+	-	pseudogene	H3F3AP4|p13	2q31.1	H3 histone pseudogene 6	-
H4-16	chr12	 14770720	14771131	-	ENSG00000197837	protein-coding	H4/p|H4C1|H4C11|H4C12|H4C13|H4C14|H4C15|H4C2|H4C3|H4C4|H4C5|H4C6|H4C8|H4C9|HIST4H4	12p12.3	H4 histone 16	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. [provided by RefSeq, Aug 2015]
H4C1	chr6	 26021649	26022050	+	ENSG00000278637	protein-coding	H4-16|H4C11|H4C12|H4C13|H4C14|H4C15|H4C2|H4C3|H4C4|H4C5|H4C6|H4C8|H4C9|H4FA|HIST1H4A	6p22.2	H4 clustered histone 1	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
H4C11	chr6	 27824092	27824480	+	ENSG00000197238	protein-coding	H4-16|H4/e|H4C1|H4C12|H4C13|H4C14|H4C15|H4C2|H4C3|H4C4|H4C5|H4C6|H4C8|H4C9|H4F2iv|H4FE|HIST1H4J|dJ160A22.2	6p22.1	H4 clustered histone 11	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H4C12	chr6	 27831174	27831560	-	ENSG00000273542	protein-coding	H4-16|H4/d|H4C1|H4C11|H4C13|H4C14|H4C15|H4C2|H4C3|H4C4|H4C5|H4C6|H4C8|H4C9|H4F2iii|H4FD|HIST1H4K|dJ160A22.1	6p22.1	H4 clustered histone 12	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H4C13	chr6	 27873148	27873534	-	ENSG00000275126	protein-coding	H4-16|H4.k|H4/k|H4C1|H4C11|H4C12|H4C14|H4C15|H4C2|H4C3|H4C4|H4C5|H4C6|H4C8|H4C9|H4FK|HIST1H4L	6p22.1	H4 clustered histone 13	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]
H4C14	chr1	 149832657	149833052	+	ENSG00000270882	protein-coding	FO108|H4|H4-16|H4/n|H4C1|H4C11|H4C12|H4C13|H4C15|H4C2|H4C3|H4C4|H4C5|H4C6|H4C8|H4C9|H4F2|H4FN|HIST2H4|HIST2H4A	1q21.2	H4 clustered histone 14	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. This gene is found in a histone cluster on chromosome 1. This gene is one of four histone genes in the cluster that are duplicated; this record represents the centromeric copy. [provided by RefSeq, Aug 2015]
H4C2	chr6	 26026896	26027283	-	ENSG00000278705	protein-coding	H4-16|H4/I|H4C1|H4C11|H4C12|H4C13|H4C14|H4C15|H4C3|H4C4|H4C5|H4C6|H4C8|H4C9|H4FI|HIST1H4B	6p22.2	H4 clustered histone 2	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
H4C3	chr6	 26103933	26104337	+	ENSG00000197061	protein-coding	H4-16|H4/g|H4C1|H4C11|H4C12|H4C13|H4C14|H4C15|H4C2|H4C4|H4C5|H4C6|H4C8|H4C9|H4FG|HIST1H4C|dJ221C16.1	6p22.2	H4 clustered histone 3	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
H4C4	chr6	 26188710	26189112	-	ENSG00000277157	protein-coding	H4-16|H4/b|H4C1|H4C11|H4C12|H4C13|H4C14|H4C15|H4C2|H4C3|H4C5|H4C6|H4C8|H4C9|H4FB|HIST1H4D|dJ221C16.9	6p22.2	H4 clustered histone 4	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
H4C5	chr6	 26204610	26205021	+	ENSG00000276966	protein-coding	H4-16|H4/j|H4C1|H4C11|H4C12|H4C13|H4C14|H4C15|H4C2|H4C3|H4C4|H4C6|H4C8|H4C9|H4FJ|HIST1H4E	6p22.2	H4 clustered histone 5	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
H4C8	chr6	 26285126	26285534	-	ENSG00000158406	protein-coding	H4-16|H4/h|H4C1|H4C11|H4C12|H4C13|H4C14|H4C15|H4C2|H4C3|H4C4|H4C5|H4C6|H4C9|H4FH|HIST1H4H	6p22.2	H4 clustered histone 8	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]
H4C9	chr6	 27139282	27139678	+	ENSG00000276180	protein-coding	H4-16|H4/m|H4C1|H4C11|H4C12|H4C13|H4C14|H4C15|H4C2|H4C3|H4C4|H4C5|H4C6|H4C8|H4FM|H4M|HIST1H4I	6p22.1	H4 clustered histone 9	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]
H6PD	chr1	9234775	9271337	+	ENSG00000049239.12	protein_coding	CORTRD1|G6PDH|GDH|H6PDH	1p36.22	hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase	There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008]
HAAO	chr2	42767089	42792593	-	ENSG00000162882.14	protein_coding	3-HAO|HAO|VCRL1|h3HAO	2p21	3-hydroxyanthranilate 3,4-dioxygenase	3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric cytosolic protein belonging to the family of intramolecular dioxygenases containing nonheme ferrous iron. It is widely distributed in peripheral organs, such as liver and kidney, and is also present in low amounts in the central nervous system. HAAO catalyzes the synthesis of quinolinic acid (QUIN) from 3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is mediated by its ability to activate glutamate N-methyl-D-aspartate receptors. Increased cerebral levels of QUIN may participate in the pathogenesis of neurologic and inflammatory disorders. HAAO has been suggested to play a role in disorders associated with altered tissue levels of QUIN. [provided by RefSeq, Jul 2008]
HABP2	chr10	113550837	113589602	+	ENSG00000148702.14	protein_coding	FSAP|HABP|HGFAL|NMTC5|PHBP	10q25.3	hyaluronan binding protein 2	This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extracellular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
HABP4	chr9	96450201	96491336	+	ENSG00000130956.13	protein_coding	IHABP-4|IHABP4|Ki-1/57|SERBP1L	9q22.32	hyaluronan binding protein 4	Broad expression in brain (RPKM 24.4), testis (RPKM 16.9) and 22 other tissues
HACD1	chr10	17589032	17617377	-	ENSG00000165996.13	protein_coding	CAP|PTPLA	10p12.33	3-hydroxyacyl-CoA dehydratase 1	The protein encoded by this gene contains a characteristic catalytic motif of the protein tyrosine phosphatases (PTPs) family. The PTP motif of this protein has the highly conserved arginine residue replaced by a proline residue; thus it may represent a distinct class of PTPs. Members of the PTP family are known to be signaling molecules that regulate a variety of cellular processes. This gene was preferentially expressed in both adult and fetal heart. A much lower expression level was detected in skeletal and smooth muscle tissues, and no expression was observed in other tissues. The tissue specific expression in the developing and adult heart suggests a role in regulating cardiac development and differentiation. [provided by RefSeq, Jul 2008]
HACD2	chr3	123490820	123585185	-	ENSG00000206527.9	protein_coding	PTPLB	3q21.1	3-hydroxyacyl-CoA dehydratase 2	The protein encoded by this gene can catalyze the third step (dehydration) in the conversion of long chain fatty acids to very long chain fatty acids. The encoded protein localizes to the endoplasmic reticulum membrane. [provided by RefSeq, Jul 2016]
HACD3	chr15	65530418	65578352	+	ENSG00000074696.12	protein_coding	B-IND1|BIND1|HSPC121|PTPLAD1	15q22.31	3-hydroxyacyl-CoA dehydratase 3	Ubiquitous expression in brain (RPKM 49.9), adrenal (RPKM 46.4) and 25 other tissues
HACD4	chr9	20999515	21031636	-	ENSG00000188921.13	protein_coding	PTPLAD2	9p21.3	3-hydroxyacyl-CoA dehydratase 4	Broad expression in lung (RPKM 8.9), bone marrow (RPKM 8.0) and 23 other tissues
HACE1	chr6	104728093	104859919	-	ENSG00000085382.11	protein_coding	SPPRS	6q16.3	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilms tumor. [provided by RefSeq, Mar 2016]
HACL1	chr3	15560704	15601852	-	ENSG00000131373.14	protein_coding	2-HPCL|HPCL|HPCL2|PHYH2	3p25.1	2-hydroxyacyl-CoA lyase 1	Ubiquitous expression in duodenum (RPKM 25.3), testis (RPKM 14.8) and 25 other tissues
HADH	chr4	107989714	108035175	+	ENSG00000138796.16	protein_coding	HAD|HADH1|HADHSC|HCDH|HHF4|MSCHAD|SCHAD	4q25	hydroxyacyl-CoA dehydrogenase	This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq, May 2010]
HADHA	chr2	26190635	26244726	-	ENSG00000084754.10	protein_coding	ECHA|GBP|HADH|LCEH|LCHAD|MTPA|TP-ALPHA	2p23.3	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008]
HADHAP1	chr4	165404067	165406350	-	ENSG00000251596.1	processed_pseudogene	HADHAP	4q32.3	HADHA pseudogene 1	-
HADHB	chr2	26243170	26290468	+	ENSG00000138029.13	protein_coding	ECHB|MSTP029|MTPB|TP-BETA	2p23.3	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta	This gene encodes the beta subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the beta subunit catalyzing the 3-ketoacyl-CoA thiolase activity. The encoded protein can also bind RNA and decreases the stability of some mRNAs. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. Mutations in this gene result in trifunctional protein deficiency. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
HAGH	chr16	1795620	1827194	-	ENSG00000063854.12	protein_coding	GLO2|GLX2|GLXII|HAGH1	16p13.3	hydroxyacylglutathione hydrolase	The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
HAGHL	chr16	726936	735525	+	ENSG00000103253.17	protein_coding	-	16p13.3	hydroxyacylglutathione hydrolase like	-
HAGLR	chr2	176173195	176188958	-	ENSG00000224189.6	antisense	HOXD-AS1|MIR7704HG|Mdgt	2q31.1	HOXD antisense growth-associated long non-coding RNA	Biased expression in testis (RPKM 20.0), lung (RPKM 8.2) and 9 other tissues
HAGLROS	chr2	176177717	176179008	+	ENSG00000226363.3	lincRNA	-	2q31.1	HAGLR opposite strand lncRNA	-
HAL	chr12	95972662	95996365	-	ENSG00000084110.10	protein_coding	HIS|HSTD	12q23.1	histidine ammonia-lyase	Histidine ammonia-lyase is a cytosolic enzyme catalyzing the first reaction in histidine catabolism, the nonoxidative deamination of L-histidine to trans-urocanic acid. Histidine ammonia-lyase defects cause histidinemia which is characterized by increased histidine and histamine and decreased urocanic acid in body fluids. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
HAMP	chr19	35280716	35285143	+	ENSG00000105697.7	protein_coding	HEPC|HFE2B|LEAP1|PLTR	19q13.12	hepcidin antimicrobial peptide	The product encoded by this gene is involved in the maintenance of iron homeostasis, and it is necessary for the regulation of iron storage in macrophages, and for intestinal iron absorption. The preproprotein is post-translationally cleaved into mature peptides of 20, 22 and 25 amino acids, and these active peptides are rich in cysteines, which form intramolecular bonds that stabilize their beta-sheet structures. These peptides exhibit antimicrobial activity against bacteria and fungi. Mutations in this gene cause hemochromatosis type 2B, also known as juvenile hemochromatosis, a disease caused by severe iron overload that results in cardiomyopathy, cirrhosis, and endocrine failure. [provided by RefSeq, Oct 2014]
HAND2-AS1	chr4	173527270	173591324	+	ENSG00000237125.8	antisense	DEIN|NBLA00301|UPH	4q34.1	HAND2 antisense RNA 1	Biased expression in endometrium (RPKM 13.8), adrenal (RPKM 11.4) and 8 other tissues
HAO2	chr1	119368779	119394130	+	ENSG00000116882.14	protein_coding	GIG16|HAOX2	1p12	hydroxyacid oxidase 2	This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
HAP1	chr17	41717742	41734644	-	ENSG00000173805.15	protein_coding	HAP2|HIP5|HLP|hHLP1	17q21.2	huntingtin associated protein 1	Huntingtons disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
HAPLN2	chr1	156619294	156625725	+	ENSG00000132702.12	protein_coding	BRAL1	1q23.1	hyaluronan and proteoglycan link protein 2	Biased expression in brain (RPKM 7.0), prostate (RPKM 0.6) and 2 other tissues
HAPLN3	chr15	88877288	88895626	-	ENSG00000140511.11	protein_coding	EXLD1|HsT19883	15q26.1	hyaluronan and proteoglycan link protein 3	This gene belongs to the hyaluronan and proteoglycan binding link protein gene family. The protein encoded by this gene may function in hyaluronic acid binding and cell adhesion. [provided by RefSeq, Jul 2008]
HAPLN4	chr19	19255641	19262796	-	ENSG00000187664.8	protein_coding	BRAL2	19p13.11	hyaluronan and proteoglycan link protein 4	Biased expression in small intestine (RPKM 9.9), duodenum (RPKM 7.8) and 4 other tissues
HAR1A	chr20	63102142	63102259	+	ENSG00000274915.1	misc_RNA	HAR1F|LINC00064|NCRNA00064	20q13.33	highly accelerated region 1A	Broad expression in brain (RPKM 1.1), testis (RPKM 0.4) and 21 other tissues
HARBI1	chr11	46602861	46617909	-	ENSG00000180423.4	protein_coding	C11orf77	11p11.2	harbinger transposase derived 1	Broad expression in testis (RPKM 5.1), brain (RPKM 1.4) and 25 other tissues
HARS1	chr5	 140673905	140691370	-	ENSG00000170445	protein-coding	CMT2W|HARS|HRS|USH3B	5q31.3	histidyl-tRNA synthetase 1	Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in the human autoimmune disease polymyositis/dermatomyositis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
HARS2	chr5	140691426	140699291	+	ENSG00000112855.14	protein_coding	HARSL|HARSR|HO3|HisRS|PRLTS2	5q31.3	histidyl-tRNA synthetase 2, mitochondrial	Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
HAS3	chr16	69105564	69118719	+	ENSG00000103044.10	protein_coding	-	16q22.1	hyaluronan synthase 3	Broad expression in urinary bladder (RPKM 19.2), lung (RPKM 12.8) and 24 other tissues
HASPIN	chr17	 3723903	3726699	+	ENSG00000177602	protein-coding	GSG2	17p13.2	histone H3 associated protein kinase	Enables ATP binding activity and histone kinase activity (H3-T3 specific). Involved in histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore; intracellular signal transduction; and mitotic sister chromatid cohesion. Located in centrosome; nucleoplasm; and spindle. [provided by Alliance of Genome Resources, Apr 2022]
HAT1	chr2	171922448	171983682	+	ENSG00000128708.12	protein_coding	KAT1	2q31.1	histone acetyltransferase 1	The protein encoded by this gene is a type B histone acetyltransferase (HAT) that is involved in the rapid acetylation of newly synthesized cytoplasmic histones, which are in turn imported into the nucleus for de novo deposition onto nascent DNA chains. Histone acetylation, particularly of histone H4, plays an important role in replication-dependent chromatin assembly. Specifically, this HAT can acetylate soluble but not nucleosomal histone H4 at lysines 5 and 12, and to a lesser degree, histone H2A at lysine 5. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jun 2009]
HAUS1P1	chr5	140581504	140582335	+	ENSG00000251453.1	processed_pseudogene	-	5q31.3	HAUS augmin like complex subunit 1 pseudogene 1	-
HAUS2	chr15	42548810	42569994	+	ENSG00000137814.10	protein_coding	C15orf25|CEP27|HsT17025	15q15.2	HAUS augmin like complex subunit 2	The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. [provided by RefSeq, Apr 2016]
HAUS3	chr4	2227464	2242164	-	ENSG00000214367.7	protein_coding	C4orf15|IT1|dgt3	4p16.3	HAUS augmin like complex subunit 3	This gene encodes a component of the HAUS augmin-like protein complex, which plays a key role in cytokinesis and mitosis. Disruption of the encoded protein causes mitotic defects resulting from fragmentation of centrosomes and microtubule destabilization. This gene shares its 5 exons with some transcripts from overlapping GeneID: 353497, which encodes a DNA polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
HAUS4	chr14	22946228	22957161	-	ENSG00000092036.18	protein_coding	C14orf94	14q11.2	HAUS augmin like complex subunit 4	This gene encodes a subunit of the centrosome complex termed the human augmin complex. The encoded protein localizes to the spindle microtubules and may play a role in mitotic spindle assembly and maintenance of centrosome integrity during cell division. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009]
HAUS6	chr9	19053143	19103119	-	ENSG00000147874.10	protein_coding	Dgt6|FAM29A	9p22.1	HAUS augmin like complex subunit 6	The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. This protein may have a role in efficient chromosome congression and segregation by promoting microtubule-dependent microtubule amplification. Pseudogenes of this gene are located on chromosomes 7 and 20. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
HAUS8	chr19	17049729	17075625	-	ENSG00000131351.14	protein_coding	DGT4|HICE1|NY-SAR-48	19p13.11	HAUS augmin like complex subunit 8	HAUS8 is 1 of 8 subunits of the 390-kD human augmin complex, or HAUS complex. The augmin complex was first identified in Drosophila, and its name comes from the Latin verb augmentare, meaning to increase. The augmin complex is a microtubule-binding complex involved in microtubule generation within the mitotic spindle and is vital to mitotic spindle assembly (Goshima et al., 2008 [PubMed 18443220]; Uehara et al., 2009 [PubMed 19369198]).[supplied by OMIM, Jun 2010]
HAVCR1	chr5	157029413	157059119	-	ENSG00000113249.12	protein_coding	CD365|HAVCR|HAVCR-1|KIM-1|KIM1|TIM|TIM-1|TIM1|TIMD-1|TIMD1	5q33.3	hepatitis A virus cellular receptor 1	The protein encoded by this gene is a membrane receptor for both human hepatitis A virus (HHAV) and TIMD4. The encoded protein may be involved in the moderation of asthma and allergic diseases. The reference genome represents an allele that retains a MTTVP amino acid segment that confers protection against atopy in HHAV seropositive individuals. The protein is a receptor for multiple other viruses, including Ebola virus, Marburg virus, Dengue virus, and Zika virus and is a possible entry factor for SARS-CoV-2 and other coronaviruses. [provided by RefSeq, Sep 2021]
HAVCR2	chr5	157085832	157142869	-	ENSG00000135077.8	protein_coding	CD366|HAVcr-2|KIM-3|SPTCL|TIM3|TIMD-3|TIMD3|Tim-3	5q33.3	hepatitis A virus cellular receptor 2	The protein encoded by this gene belongs to the immunoglobulin superfamily, and TIM family of proteins. CD4-positive T helper lymphocytes can be divided into types 1 (Th1) and 2 (Th2) on the basis of their cytokine secretion patterns. Th1 cells are involved in cell-mediated immunity to intracellular pathogens and delayed-type hypersensitivity reactions, whereas, Th2 cells are involved in the control of extracellular helminthic infections and the promotion of atopic and allergic diseases. This protein is a Th1-specific cell surface protein that regulates macrophage activation, and inhibits Th1-mediated auto- and alloimmune responses, and promotes immunological tolerance. [provided by RefSeq, Sep 2011]
HAX1	chr1	154272511	154275875	+	ENSG00000143575.14	protein_coding	HCLSBP1|HS1BP1|SCN3	1q21.3	HCLS1 associated protein X-1	The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
HBA2	chr16	172847	173710	+	ENSG00000188536.12	protein_coding	ECYT7|HBA-T2|HBH	16p13.3	hemoglobin subunit alpha 2	The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5 untranslated regions and the introns, but they differ significantly over the 3 untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]
HBD	chr11	5232678	5235370	-	ENSG00000223609.7	protein_coding	-	-	hypophosphatemic bone disease	-
HBE1	chr11	5268345	5505617	-	ENSG00000213931.5	protein_coding	HBE	11p15.4	hemoglobin subunit epsilon 1	The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order:  5-epsilon - G-gamma - A-gamma - delta - beta-3 [provided by RefSeq, Jul 2008]
HBEGF	chr5	140332843	140346631	-	ENSG00000113070.7	protein_coding	DTR|DTS|DTSF|HEGFL	5q31.3	heparin binding EGF like growth factor	Broad expression in gall bladder (RPKM 39.1), esophagus (RPKM 22.6) and 20 other tissues
HBG1	chr11	5248083	5249892	-	ENSG00000213934.6	protein_coding	HBG-T2|HBGA|HBGR|HSGGL1|PRO2979	11p15.4	hemoglobin subunit gamma 1	The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5-epsilon -- gamma-G -- gamma-A -- delta -- beta--3. [provided by RefSeq, Jul 2008]
HBG2	chr11	5253190	5645789	-	ENSG00000196565.13	protein_coding	HBG-T1|TNCY	11p15.4	hemoglobin subunit gamma 2	The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5- epsilon -- gamma-G -- gamma-A -- delta -- beta--3. [provided by RefSeq, Jul 2008]
HBM	chr16	153892	166768	+	ENSG00000206177.6	protein_coding	HBAP2|HBK	16p13.3	hemoglobin subunit mu	The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3. This gene has an ORF encoding a 141 aa polypeptide which is similar to the delta globins found in reptiles and birds. This locus was originally described as a pseudogene; however, it is currently thought to be a protein-coding gene. [provided by RefSeq, Jul 2008]
HBP1	chr7	107168961	107202529	+	ENSG00000105856.13	protein_coding	-	7q22.3	HMG-box transcription factor 1	-
HBQ1	chr16	180453	181181	+	ENSG00000086506.2	protein_coding	HBQ	16p13.3	hemoglobin subunit theta 1	Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks. Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order of genes is: 5 - zeta - pseudozeta - mu - pseudoalpha-2 -pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3. Research supports a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue. [provided by RefSeq, Jul 2008]
HBS1L	chr6	134960378	135103056	-	ENSG00000112339.14	protein_coding	EF-1a|ERFS|HBS1|HSPC276|eRF3c	6q23.3	HBS1 like translational GTPase	This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009]
HBZ	chr16	152687	154503	+	ENSG00000130656.4	protein_coding	HBAZ|HBZ-T1|HBZ1	16p13.3	hemoglobin subunit zeta	Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, while alpha-globin is produced throughout fetal and adult life. The zeta-globin gene is a member of the human alpha-globin gene cluster that includes five functional genes and two pseudogenes. The order of genes is: 5 - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 -alpha-1 - theta1 - 3. [provided by RefSeq, Nov 2009]
HCAR1	chr12	122726076	122730843	-	ENSG00000196917.5	protein_coding	FKSG80|GPR104|GPR81|HCA1|LACR1|TA-GPCR|TAGPCR	12q24.31	hydroxycarboxylic acid receptor 1	G protein-coupled receptors (GPCRs, or GPRs), such as GPR81, contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM, Feb 2005]
HCAR2	chr12	122701293	122703343	-	ENSG00000182782.7	protein_coding	GPR109A|HCA2|HM74a|HM74b|NIACR1|PUMAG|Puma-g	12q24.31	hydroxycarboxylic acid receptor 2	-
HCAR3	chr12	122714756	122716892	-	ENSG00000255398.2	protein_coding	GPR109B|HCA3|HM74|PUMAG|Puma-g	12q24.31	hydroxycarboxylic acid receptor 3	-
HCCS	chrX	11111301	11123078	+	ENSG00000004961.14	protein_coding	CCHL|LSDMCA1|MCOPS7|MLS	Xp22.2	holocytochrome c synthase	The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2010]
HCFC1R1	chr16	3022620	3024286	-	ENSG00000103145.10	protein_coding	HPIP	16p13.3	host cell factor C1 regulator 1	Ubiquitous expression in kidney (RPKM 18.6), prostate (RPKM 18.2) and 25 other tissues
HCG11	chr6	26523450	26526579	+	ENSG00000228223.2	lincRNA	CTA-14H9.3|bK14H9.3	6p22.2	HLA complex group 11	-
HCG14	chr6	28896530	28897322	+	ENSG00000224157.1	antisense	dJ111M5.4	6p22.1	HLA complex group 14	Low expression observed in reference dataset
HCG15	chr6	28986203	28987484	+	ENSG00000227214.2	antisense	HCG16	6p22.1	HLA complex group 15	-
HCG17	chr6	30234039	30326134	-	ENSG00000270604.5	lincRNA	HCG18|LINC00046|NCRNA00046	6p22.1	HLA complex group 17	Low expression observed in reference dataset
HCG18	chr6	30287397	30327150	-	ENSG00000231074.8	antisense	-	6p22.1	HLA complex group 18	-
HCG20	chr6	30766825	30792250	+	ENSG00000228022.5	lincRNA	NCRNA00149	6p21.33	HLA complex group 20	Broad expression in kidney (RPKM 1.8), colon (RPKM 1.5) and 25 other tissues
HCG21	chr6	30945979	30954862	-	ENSG00000233529.1	antisense	NCRNA00150	6p21.33	HLA complex group 21	Biased expression in stomach (RPKM 27.0), lung (RPKM 18.7) and 4 other tissues
HCG22	chr6	31053450	31059890	+	ENSG00000228789.6	lincRNA	PBMUCL2	6p21.33	HLA complex group 22 (gene/pseudogene)	Annotation category: suggests misassembly
HCG23	chr6	32390510	32393686	+	ENSG00000228962.1	antisense	dJ1077I5.3	6p21.32	HLA complex group 23	Biased expression in ovary (RPKM 1.8), brain (RPKM 1.3) and 11 other tissues
HCG24	chr6	33144783	33147767	+	ENSG00000230313.1	antisense	-	6p21.32	HLA complex group 24	-
HCG25	chr6	33249534	33254989	+	ENSG00000232940.5	antisense	dJ1033B10.16	6p21.32	HLA complex group 25	Ubiquitous expression in skin (RPKM 11.4), prostate (RPKM 11.1) and 25 other tissues
HCG27	chr6	31197760	31203968	+	ENSG00000206344.7	lincRNA	bCX101P6.9|bPG299F13.9|bQB115I13.2	6p21.33	HLA complex group 27	Broad expression in spleen (RPKM 2.2), appendix (RPKM 1.9) and 25 other tissues
HCG4	chr6	29791753	29792750	-	ENSG00000176998.4	unprocessed_pseudogene	HCG4P10|HCGIV-10|HCGIV.9	6p22.1	HLA complex group 4	-
HCG4B	chr6	29925983	29926973	-	ENSG00000227262.3	unprocessed_pseudogene	HCG4P6|HCGIV-06|HCGIV-6|HCGIV.5|bCX67J3.3|bPG309N1.1|bQB90C11.3	6p22.1	HLA complex group 4B	-
HCG4P11	chr6	29722981	29723971	-	ENSG00000225864.1	unprocessed_pseudogene	HCGIV-11|HCGIV.10	6p22.1	HLA complex group 4 pseudogene 11	-
HCG4P3	chr6	30006121	30007116	-	ENSG00000237669.1	unprocessed_pseudogene	HCGIV-03|HCGIV-3|HCGIV.2	6p22.1	HLA complex group 4 pseudogene 3	-
HCG4P5	chr6	29942075	29943067	-	ENSG00000227766.1	unprocessed_pseudogene	HCGIV-05|HCGIV-5|HCGIV.4	6p22.1	HLA complex group 4 pseudogene 5	-
HCG4P7	chr6	29887294	29888268	-	ENSG00000230521.1	unprocessed_pseudogene	HCGIV-07|HCGIV-7|HCGIV.C	6p22.1	HLA complex group 4 pseudogene 7	-
HCG4P8	chr6	29827385	29828364	-	ENSG00000229142.1	unprocessed_pseudogene	HCGIV-08|HCGIV-8|HCGIV.7	6p22.1	HLA complex group 4 pseudogene 8	-
HCG9	chr6	29975112	29978410	+	ENSG00000204625.10	lincRNA	HCGIX|HCGIX4	6p22.1	HLA complex group 9	This gene lies within the MHC class I region on chromosome 6p21.3. This gene is believed to be non-coding, but its function has not been determined. [provided by RefSeq, Jul 2009]
HCG9P5	chr6	29748289	29748513	+	ENSG00000227758.1	unprocessed_pseudogene	HCGIX-5|dJ377H14.6	6p22.1	HLA complex group 9 pseudogene 5	-
HCK	chr20	32052188	32101856	+	ENSG00000101336.13	protein_coding	JTK9|p59Hck|p61Hck	20q11.21	HCK proto-oncogene, Src family tyrosine kinase	The protein encoded by this gene is a member of the Src family of tyrosine kinases. This protein is primarily hemopoietic, particularly in cells of the myeloid and B-lymphoid lineages. It may help couple the Fc receptor to the activation of the respiratory burst. In addition, it may play a role in neutrophil migration and in the degranulation of neutrophils. Multiple isoforms with different subcellular distributions are produced due to both alternative splicing and the use of alternative translation initiation codons, including a non-AUG (CUG) codon. [provided by RefSeq, Feb 2010]
HCLS1	chr3	121631399	121660927	-	ENSG00000180353.10	protein_coding	CTTNL|HS1|lckBP1|p75	3q13.33	hematopoietic cell-specific Lyn substrate 1	Broad expression in spleen (RPKM 118.5), lymph node (RPKM 107.3) and 16 other tissues
HCN1	chr5	45254950	45696498	-	ENSG00000164588.6	protein_coding	BCNG-1|BCNG1|DEE24|EIEE24|GEFSP10|HAC-2	5p12	hyperpolarization activated cyclic nucleotide gated potassium channel 1	The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other pore-forming subunits to form a potassium channel. This channel may act as a receptor for sour tastes. [provided by RefSeq, Oct 2011]
HCN2	chr19	589893	617159	+	ENSG00000099822.2	protein_coding	BCNG-2|BCNG2|EIG17|FEB2|GEFSP11|HAC-1	19p13.3	hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2	The protein encoded by this gene is a hyperpolarization-activated cation channel involved in the generation of native pacemaker activity in the heart and in the brain. The encoded protein is activated by cAMP and can produce a fast, large current. Defects in this gene were noted as a possible cause of some forms of epilepsy. [provided by RefSeq, Jan 2017]
HCN3	chr1	155277583	155289848	+	ENSG00000143630.9	protein_coding	-	1q22	hyperpolarization activated cyclic nucleotide gated potassium channel 3	Ubiquitous expression in liver (RPKM 3.6), duodenum (RPKM 2.6) and 25 other tissues
HCN4	chr15	73319859	73369264	-	ENSG00000138622.3	protein_coding	BRGDA8|EIG18|SSS2	15q24.1	hyperpolarization activated cyclic nucleotide gated potassium channel 4	This gene encodes a member of the hyperpolarization-activated cyclic nucleotide-gated potassium channels. The encoded protein shows slow kinetics of activation and inactivation, and is necessary for the cardiac pacemaking process. This channel may also mediate responses to sour stimuli. Mutations in this gene have been linked to sick sinus syndrome 2, also known as atrial fibrillation with bradyarrhythmia or familial sinus bradycardia. Two pseudogenes have been identified on chromosome 15. [provided by RefSeq, Oct 2008]
HCP5	chr6	31400702	31477506	+	ENSG00000206337.10	sense_overlapping	6S2650E|D6S2650E|P5-1	6p21.33	HLA complex P5	Broad expression in spleen (RPKM 38.9), lymph node (RPKM 31.9) and 24 other tissues
HCP5B	chr6	29871895	29873783	-	ENSG00000281831.1	lincRNA	HCP5P10|P5-10|P5.9	6p22.1	HLA complex P5B	-
HCRTR1	chr1	31617686	31632518	+	ENSG00000121764.11	protein_coding	ORXR1|OX1R|OXR1	1p35.2	hypocretin receptor 1	The protein encoded by this gene is a G-protein coupled receptor involved in the regulation of feeding behavior. The encoded protein selectively binds the hypothalamic neuropeptide orexin A. A related gene (HCRTR2) encodes a G-protein coupled receptor that binds orexin A and orexin B. [provided by RefSeq, Jan 2009]
HCRTR2	chr6	55106460	55282620	+	ENSG00000137252.9	protein_coding	ORXR2|OX2R|OXR2	6p12.1	hypocretin receptor 2	The protein encoded by this gene is a G-protein coupled receptor involved in the regulation of feeding behavior. The encoded protein binds the hypothalamic neuropeptides orexin A and orexin B. A related gene (HCRTR1) encodes a G-protein coupled receptor that selectively binds orexin A. [provided by RefSeq, Jan 2009]
HCST	chr19	35902480	35904377	+	ENSG00000126264.9	protein_coding	DAP10|KAP10|PIK3AP	19q13.12	hematopoietic cell signal transducer	This gene encodes a transmembrane signaling adaptor that contains a YxxM motif in its cytoplasmic domain. The encoded protein may form part of the immune recognition receptor complex with the C-type lectin-like receptor NKG2D. As part of this receptor complex, this protein may activate phosphatidylinositol 3-kinase dependent signaling pathways through its intracytoplasmic YxxM motif. This receptor complex may have a role in cell survival and proliferation by activation of NK and T cell responses. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
HDAC1	chr1	32292086	32333635	+	ENSG00000116478.11	protein_coding	GON-10|HD1|KDAC1|RPD3|RPD3L1	1p35.2-p35.1	histone deacetylase 1	Histone acetylation and deacetylation, catalyzed by multisubunit complexes, play a key role in the regulation of eukaryotic gene expression. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family and is a component of the histone deacetylase complex. It also interacts with retinoblastoma tumor-suppressor protein and this complex is a key element in the control of cell proliferation and differentiation. Together with metastasis-associated protein-2, it deacetylates p53 and modulates its effect on cell growth and apoptosis. [provided by RefSeq, Jul 2008]
HDAC10	chr22	50245183	50251405	-	ENSG00000100429.17	protein_coding	HD10	22q13.33	histone deacetylase 10	The protein encoded by this gene belongs to the histone deacetylase family, members of which deacetylate lysine residues on the N-terminal part of the core histones. Histone deacetylation modulates chromatin structure, and plays an important role in transcriptional regulation, cell cycle progression, and developmental events. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
HDAC11	chr3	13479724	13506424	+	ENSG00000163517.14	protein_coding	HD11	3p25.1	histone deacetylase 11	This gene encodes a class IV histone deacetylase. The encoded protein is localized to the nucleus and may be involved in regulating the expression of interleukin 10. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2009]
HDAC1P1	chr10	94137748	94139500	+	ENSG00000234724.1	processed_pseudogene	-	10q23.33	histone deacetylase 1 pseudogene 1	-
HDAC3	chr5	141620876	141636870	-	ENSG00000171720.9	protein_coding	HD3|KDAC3|RPD3|RPD3-2	5q31.3	histone deacetylase 3	Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family. It has histone deacetylase activity and represses transcription when tethered to a promoter. It may participate in the regulation of transcription through its binding with the zinc-finger transcription factor YY1. This protein can also down-regulate p53 function and thus modulate cell growth and apoptosis. This gene is regarded as a potential tumor suppressor gene. [provided by RefSeq, Jul 2008]
HDAC4-AS1	chr2	 239401436	239402364	+	ENSG00000222020	ncRNA	-	2q37.3	HDAC4 antisense RNA 1	-
HDAC5	chr17	44076746	44123702	-	ENSG00000108840.15	protein_coding	HD5|NY-CO-9	17q21.31	histone deacetylase 5	Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the class II histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. It coimmunoprecipitates only with HDAC3 family member and might form multicomplex proteins. It also interacts with myocyte enhancer factor-2 (MEF2) proteins, resulting in repression of MEF2-dependent genes. This gene is thought to be associated with colon cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
HDAC7	chr12	47782722	47833132	-	ENSG00000061273.17	protein_coding	HD7|HD7A|HDAC7A	12q13.11	histone deacetylase 7	Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to mouse HDAC7 gene whose protein promotes repression mediated via the transcriptional corepressor SMRT. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
HDAC9	chr7	18086949	19002416	+	ENSG00000048052.21	protein_coding	HD7|HD7b|HD9|HDAC|HDAC7|HDAC7B|HDAC9B|HDAC9FL|HDRP|MITR	7p21.1	histone deacetylase 9	Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to the Xenopus and mouse MITR genes. The MITR protein lacks the histone deacetylase catalytic domain. It represses MEF2 activity through recruitment of multicomponent corepressor complexes that include CtBP and HDACs. This encoded protein may play a role in hematopoiesis. Multiple alternatively spliced transcripts have been described for this gene but the full-length nature of some of them has not been determined. [provided by RefSeq, Jul 2008]
HDC	chr15	50241947	50266026	-	ENSG00000140287.10	protein_coding	-	15q21.2	histidine decarboxylase	Broad expression in gall bladder (RPKM 9.0), stomach (RPKM 6.4) and 14 other tissues
HDDC2	chr6	125219962	125302078	-	ENSG00000111906.17	protein_coding	C6orf74|CGI-130|NS5ATP2|dJ167O5.2	6q22.31	HD domain containing 2	Ubiquitous expression in adrenal (RPKM 20.8), brain (RPKM 17.5) and 25 other tissues
HDDC3	chr15	90929964	90932569	-	ENSG00000184508.10	protein_coding	(ppGpp)ase|MESH1	15q26.1	HD domain containing 3	Ubiquitous expression in fat (RPKM 9.9), kidney (RPKM 7.9) and 25 other tissues
HDGF	chr1	156742107	156766925	-	ENSG00000143321.18	protein_coding	HMG1L2	1q23.1	heparin binding growth factor	This gene encodes a member of the hepatoma-derived growth factor family. The encoded protein has mitogenic and DNA-binding activity and may play a role in cellular proliferation and differentiation. High levels of expression of this gene enhance the growth of many tumors. This gene was thought initially to be located on chromosome X; however, that location has been determined to correspond to a related pseudogene. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2016]
HDGFL2	chr19	 4472297	4502207	+	ENSG00000167674	protein-coding	HDGF-2|HDGF2|HDGFRP2|HRP-2|HRP2	19p13.3	HDGF like 2	This gene encodes a member of the hepatoma-derived growth factor (HDGF) family. The protein includes an N-terminal PWWP domain that binds to methyl-lysine-containing histones, with specific binding of this protein to tri-methylated lysines 36 and 79 of histone H3, and di- and tri-methylated lysine 20 of histone H4. The protein functions in LEDGF/p75-independent HIV-1 replication by determining HIV-1 integration site selection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]
HDGFL3	chr15	 83112738	83207823	-	ENSG00000166503	protein-coding	CGI-142|HDGF-2|HDGF2|HDGFRP3|HRP-3	15q25.2	HDGF like 3	Broad expression in testis (RPKM 18.5), brain (RPKM 17.0) and 22 other tissues
HDHD2	chr18	47107403	47150520	-	ENSG00000167220.11	protein_coding	3110052N05Rik|HEL-S-301	18q21.1	haloacid dehalogenase like hydrolase domain containing 2	Ubiquitous expression in brain (RPKM 11.6), thyroid (RPKM 10.9) and 25 other tissues
HDHD3	chr9	113373419	113376999	-	ENSG00000119431.9	protein_coding	2810435D12Rik|C9orf158	9q32	haloacid dehalogenase like hydrolase domain containing 3	Ubiquitous expression in duodenum (RPKM 36.7), adrenal (RPKM 34.5) and 25 other tissues
HDHD5	chr22	17137511	17165287	-	ENSG00000069998.12	protein_coding	CECR5	22q11.1	haloacid dehalogenase like hydrolase domain containing 5	Predicted to be involved in glycerophospholipid biosynthetic process. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
HDLBP	chr2	241227264	241317061	-	ENSG00000115677.16	protein_coding	HBP|PRO2900|VGL	2q37.3	high density lipoprotein binding protein	The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [provided by RefSeq, Mar 2016]
HEATR1	chr1	236549005	236604504	-	ENSG00000119285.10	protein_coding	BAP28|UTP10	1q43	HEAT repeat containing 1	Ubiquitous expression in testis (RPKM 12.5), appendix (RPKM 11.0) and 25 other tissues
HEATR3	chr16	50065941	50106387	+	ENSG00000155393.12	protein_coding	SYO1	16q12.1	HEAT repeat containing 3	The protein encoded by this gene plays a role in ribosomal protein transport and in the assembly of the 5S ribonucleoprotein particle (5S RNP). The encoded protein also may be involved in NOD2-mediated NF-kappaB signaling. [provided by RefSeq, Jul 2016]
HEATR4	chr14	73478484	73558947	-	ENSG00000187105.8	protein_coding	-	14q24.3	HEAT repeat containing 4	-
HEATR5A	chr14	31291791	31420582	-	ENSG00000129493.14	protein_coding	C14orf125|p200b	14q12	HEAT repeat containing 5A	Ubiquitous expression in colon (RPKM 6.4), thyroid (RPKM 5.2) and 25 other tissues
HEATR5B	chr2	36968383	37084342	-	ENSG00000008869.11	protein_coding	p200|p200a	2p22.2	HEAT repeat containing 5B	Ubiquitous expression in lymph node (RPKM 6.3), thyroid (RPKM 6.0) and 25 other tissues
HEATR6	chr17	60043194	60078931	-	ENSG00000068097.14	protein_coding	ABC1	17q23.1	HEAT repeat containing 6	Ubiquitous expression in ovary (RPKM 3.1), testis (RPKM 3.0) and 25 other tissues
HEATR9	chr17	35854946	35868891	-	ENSG00000270379.5	protein_coding	C17orf66	17q12	HEAT repeat containing 9	Predicted to act upstream of or within hematopoietic progenitor cell differentiation. [provided by Alliance of Genome Resources, Apr 2022]
HEBP1	chr12	12974864	13000273	-	ENSG00000013583.8	protein_coding	HBP|HEBP	12p13.1	heme binding protein 1	The full-length protein encoded by this gene is an intracellular tetrapyrrole-binding protein. This protein includes a natural chemoattractant peptide of 21 amino acids at the N-terminus, which is a natural ligand for formyl peptide receptor-like receptor 2 (FPRL2) and promotes calcium mobilization and chemotaxis in monocytes and dendritic cells. [provided by RefSeq, Jul 2008]
HECA	chr6	139135112	139180802	+	ENSG00000112406.4	protein_coding	HDC|HDCL|HHDC|dJ225E12.1	6q24.1	hdc homolog, cell cycle regulator	This gene encodes the homolog of the Drosophila headcase protein, a highly basic, cytoplasmic protein that regulates the re-entry of imaginal cells into the mitotic cycle during adult morphogenesis. In Drosophila, the encoded protein also inhibits terminal branching of neighboring cells during tracheal development. [provided by RefSeq, Jul 2008]
HECTD1	chr14	31100112	31207804	-	ENSG00000092148.12	protein_coding	EULIR	14q12	HECT domain E3 ubiquitin protein ligase 1	Ubiquitous expression in thyroid (RPKM 22.9), testis (RPKM 20.1) and 25 other tissues
HECTD2	chr10	91409280	91514829	+	ENSG00000165338.16	protein_coding	-	10q23.32	HECT domain E3 ubiquitin protein ligase 2	-
HECTD4	chr12	112160188	112382439	-	ENSG00000173064.12	protein_coding	C12ord51|C12orf51|HEEL|POTAGE	12q24.13	HECT domain E3 ubiquitin protein ligase 4	Ubiquitous expression in brain (RPKM 8.7), bone marrow (RPKM 7.2) and 25 other tissues
HECW2	chr2	196194370	196593692	-	ENSG00000138411.10	protein_coding	NDHSAL|NEDL2	2q32.3	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	This gene encodes a member of a family of E3 ubiquitin ligases which plays an important role in the proliferation, migration and differentiation of neural crest cells as a regulator of glial cell line-derived neurotrophic factor (GDNF)/Ret signaling. This gene also plays an important role in angiogenesis through stabilization of endothelial cell-to-cell junctions as a regulator of angiomotin-like 1 stability. The encoded protein contains an N-terminal calcium/lipid-binding (C2) domain involved in membrane targeting, two-four WW domains responsible for cellular localization and substrate recognition, and a C-terminal homologous with E6-associated protein C-terminus (HECT) catalytic domain. Naturally occurring mutations in this gene are associated with neurodevelopmental delay, hypotonia, and epilepsy. The decreased expression of this gene in the aganglionic colon is associated with Hirschsprungs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
HEG1	chr3	124965710	125055958	-	ENSG00000173706.12	protein_coding	HEG|MST112|MSTP112	3q21.2	heart development protein with EGF like domains 1	Broad expression in thyroid (RPKM 26.8), lung (RPKM 26.7) and 23 other tissues
HEIH	chr5	180829954	180831605	-	ENSG00000278970.1	TEC	HCCAT2|LINC-HEIH|LINC00848|lncRNA-HEIH	5q35.3	hepatocellular carcinoma up-regulated EZH2-associated long non-coding RNA	-
HELB	chr12	66302545	66347645	+	ENSG00000127311.9	protein_coding	DHB|hDHB	12q14.3|12q	DNA helicase B	This gene encodes a DNA-dependent ATPase which catalyzes the unwinding of DNA necessary for DNA replication, repair, recombination, and transcription. This gene is thought to function specifically during the S phase entry of the cell cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
HELLS	chr10	94501434	94613905	+	ENSG00000119969.14	protein_coding	ICF4|LSH|Nbla10143|PASG|SMARCA6	10q23.33	helicase, lymphoid specific	This gene encodes a lymphoid-specific helicase. Other helicases function in processes involving DNA strand separation, including replication, repair, recombination, and transcription. This protein is thought to be involved with cellular proliferation and may play a role in leukemogenesis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2014]
HELQ	chr4	83407343	83455856	-	ENSG00000163312.10	protein_coding	HEL308	4q21.23	helicase, POLQ like	HEL308 is a single-stranded DNA-dependent ATPase and DNA helicase (Marini and Wood, 2002 [PubMed 11751861]).[supplied by OMIM, Mar 2008]
HELZ	chr17	67070438	67245989	-	ENSG00000198265.11	protein_coding	DHRC|DRHC|HUMORF5	17q24.2	helicase with zinc finger	HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et al., 1999 [PubMed 10471385]).[supplied by OMIM, Mar 2008]
HELZ2	chr20	63558086	63574239	-	ENSG00000130589.16	protein_coding	PDIP-1|PRIC285	20q13.33	helicase with zinc finger 2	The protein encoded by this gene is a nuclear transcriptional co-activator for peroxisome proliferator activated receptor alpha. The encoded protein contains a zinc finger and is a helicase that appears to be part of the peroxisome proliferator activated receptor alpha interacting complex. This gene is a member of the DNA2/NAM7 helicase gene family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
HEMGN	chr9	97926791	97944856	-	ENSG00000136929.12	protein_coding	CT155|EDAG|EDAG-1|NDR	9q22.33	hemogen	Biased expression in bone marrow (RPKM 77.2) and testis (RPKM 23.8)
HEMK1	chr3	50569152	50596168	+	ENSG00000114735.9	protein_coding	HEMK|MPRMC|MTQ1	3p21.31	HemK methyltransferase family member 1	Ubiquitous expression in thyroid (RPKM 4.4), ovary (RPKM 4.1) and 25 other tissues
HEPACAM2	chr7	93188586	93226524	-	ENSG00000188175.9	protein_coding	MIKI	7q21.2	HEPACAM family member 2	This gene encodes a protein related to the immunoglobulin superfamily that plays a role in mitosis. Knockdown of this gene results in prometaphase arrest, abnormal nuclear morphology and apoptosis. Poly(ADP-ribosylation) of the encoded protein promotes its translocation to centrosomes, which may stimulate centrosome maturation. A chromosomal deletion including this gene may be associated with myeloid leukemia and myelodysplastic syndrome in human patients. [provided by RefSeq, Oct 2016]
HERC1	chr15	63608618	63833942	-	ENSG00000103657.13	protein_coding	MDFPMR|p532|p619	15q22.31	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	This gen encodes a member of the HERC protein family. This protein stimulates guanine nucleotide exchange on ARF1 and Rab proteins. This protein may be involved in membrane transport processes. [provided by RefSeq, Mar 2012]
HERC2	chr15	28111040	28322152	-	ENSG00000128731.15	protein_coding	D15F37S1|MRT38|SHEP1|jdf2|p528	15q13.1	HECT and RLD domain containing E3 ubiquitin protein ligase 2	This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]
HERC2P10	chr15	30815271	30844153	+	ENSG00000259845.1	unprocessed_pseudogene	-	15q13.2	HERC2 pseudogene 10	-
HERC2P9	chr15	28589492	28685264	+	ENSG00000206149.10	transcribed_unprocessed_pseudogene	-	15q13.1	HERC2 pseudogene 9	-
HERC3	chr4	88521048	88708542	+	ENSG00000138641.15	protein_coding	-	4q22.1	HECT and RLD domain containing E3 ubiquitin protein ligase 3	Ubiquitous expression in prostate (RPKM 6.4), thyroid (RPKM 5.6) and 25 other tissues
HERC4	chr10	67921899	68075348	-	ENSG00000148634.15	protein_coding	-	10q21.3	HECT and RLD domain containing E3 ubiquitin protein ligase 4	Ubiquitous expression in lymph node (RPKM 8.1), adrenal (RPKM 7.4) and 25 other tissues
HERC5	chr4	88457117	88506163	+	ENSG00000138646.8	protein_coding	CEB1|CEBP1	4q22.1	HECT and RLD domain containing E3 ubiquitin protein ligase 5	This gene is a member of the HERC family of ubiquitin ligases and encodes a protein with a HECT domain and five RCC1 repeats. Pro-inflammatory cytokines upregulate expression of this gene in endothelial cells. The protein localizes to the cytoplasm and perinuclear region and functions as an interferon-induced E3 protein ligase that mediates ISGylation of protein targets. The protein also acts as a modulator of the antiviral immune response. The gene lies in a cluster of HERC family genes on chromosome 4. [provided by RefSeq, Aug 2021]
HERC6	chr4	88378739	88443111	+	ENSG00000138642.14	protein_coding	-	4q22.1	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	Ubiquitous expression in esophagus (RPKM 12.4), gall bladder (RPKM 7.3) and 25 other tissues
HERPUD1	chr16	56932048	56944863	+	ENSG00000051108.14	protein_coding	HERP|Mif1|SUP	16q13	homocysteine inducible ER protein with ubiquitin like domain 1	The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolded proteins, the increased expression of proteins involved in polypeptide folding, known as the unfolded protein response (UPR), and the destruction of misfolded proteins by the ER-associated protein degradation (ERAD) system. This gene may play a role in both UPR and ERAD. Its expression is induced by UPR and it has an ER stress response element in its promoter region while the encoded protein has an N-terminal ubiquitin-like domain which may interact with the ERAD system. This protein has been shown to interact with presenilin proteins and to increase the level of amyloid-beta protein following its overexpression. Alternative splicing of this gene produces multiple transcript variants encoding different isoforms. The full-length nature of all transcript variants has not been determined. [provided by RefSeq, Jan 2013]
HERPUD2	chr7	35632659	35695571	-	ENSG00000122557.9	protein_coding	-	7p14.2	HERPUD family member 2	-
HES3	chr1	6244192	6245578	+	ENSG00000173673.7	protein_coding	bHLHb43	1p36.31	hes family bHLH transcription factor 3	Low expression observed in reference dataset
HES4	chr1	998962	1000172	-	ENSG00000188290.10	protein_coding	bHLHb42	1p36.33	hes family bHLH transcription factor 4	Broad expression in fat (RPKM 3.0), prostate (RPKM 2.2) and 19 other tissues
HES5	chr1	2528745	2530245	-	ENSG00000197921.5	protein_coding	bHLHb38	1p36.32	hes family bHLH transcription factor 5	This gene encodes a member of a family of basic helix-loop-helix transcriptional repressors. The protein product of this gene, which is activated downstream of the Notch pathway, regulates cell differentiation in multiple tissues. Disruptions in the normal expression of this gene have been associated with developmental diseases and cancer. [provided by RefSeq, Dec 2008]
HES6	chr2	238238267	238240662	-	ENSG00000144485.10	protein_coding	C-HAIRY1|HES-6|bHLHb41|bHLHc23	2q37.3	hes family bHLH transcription factor 6	This gene encodes a member of a subfamily of basic helix-loop-helix transcription repressors that have homology to the Drosophila enhancer of split genes. Members of this gene family regulate cell differentiation in numerous cell types. The protein encoded by this gene functions as a cofactor, interacting with other transcription factors through a tetrapeptide domain in its C-terminus. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Dec 2008]
HES7	chr17	8120590	8124092	-	ENSG00000179111.8	protein_coding	SCDO4|bHLHb37	17p13.1	hes family bHLH transcription factor 7	This gene encodes a member of the hairy and enhancer of split family of bHLH transcription factors. The mouse ortholog of this gene is regulated by Notch signaling. The protein functions as a transcriptional repressor, and is implicated in correct patterning of the axial skeleton. A mutation in this gene has been shown to result in spondylocostal dysostosis. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
HESX1	chr3	57197843	57226521	-	ENSG00000163666.8	protein_coding	ANF|CPHD5|RPX	3p14.3	HESX homeobox 1	This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008]
HEXA	chr15	72340919	72376476	-	ENSG00000213614.9	protein_coding	TSD	15q23	hexosaminidase subunit alpha	This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
HEXA-AS1	chr15	72376113	72378788	+	ENSG00000260339.1	antisense	C15orf34	15q23	HEXA antisense RNA 1	-
HEXB	chr5	74640023	74722647	+	ENSG00000049860.13	protein_coding	ENC-1AS|HEL-248|HEL-S-111	5q13.3	hexosaminidase subunit beta	Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
HEXD	chr17	 82418347	82442645	+	ENSG00000169660	protein-coding	HEXDC	17q25.3	hexosaminidase D	Ubiquitous expression in spleen (RPKM 11.1), prostate (RPKM 7.3) and 25 other tissues
HEXIM1	chr17	45148502	45152101	+	ENSG00000186834.3	protein_coding	CLP1|EDG1|HIS1|MAQ1	17q21.31	HEXIM P-TEFb complex subunit 1	Expression of this gene is induced by hexamethylene-bis-acetamide in vascular smooth muscle cells. This gene has no introns. [provided by RefSeq, Jul 2008]
HEXIM2	chr17	45160700	45170040	+	ENSG00000168517.10	protein_coding	L3	17q21.31	HEXIM P-TEFb complex subunit 2	This gene encodes a member of the HEXIM family of proteins. This protein is a component of the 7SK small nuclear ribonucleoprotein. This protein has been found to negatively regulate the kinase activity of the cyclin-dependent kinase P-TEFb, which phosphorylates multiple target proteins to promote transcriptional elongation. This gene is located approximately 7 kb downstream from related family member HEXIM1 on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
HEY1	chr8	79764010	79767863	-	ENSG00000164683.16	protein_coding	BHLHb31|CHF2|HERP2|HESR1|HRT-1|NERP2|OAF1|hHRT1	8q21.13	hes related family bHLH transcription factor with YRPW motif 1	This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
HEY2	chr6	125747664	125761269	+	ENSG00000135547.8	protein_coding	CHF1|GRIDLOCK|GRL|HERP1|HESR2|HRT2|bHLHb32	6q22.31	hes related family bHLH transcription factor with YRPW motif 2	This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deacetylase complex to repress transcription. Expression of this gene is induced by the Notch signal transduction pathway. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
HEYL	chr1	39624153	39639945	-	ENSG00000163909.7	protein_coding	HESR3|HEY3|HRT3|bHLHb33	1p34.2	hes related family bHLH transcription factor with YRPW motif like	This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
HFE	chr6	26087281	26098343	+	ENSG00000010704.18	protein_coding	HFE1|HH|HLA-H|MVCD7|TFQTL2	6p22.2	homeostatic iron regulator	The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
HGD	chr3	120628173	120682571	-	ENSG00000113924.11	protein_coding	AKU|HGO	3q13.33	homogentisate 1,2-dioxygenase	This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010]
HGF	chr7	81699006	81770438	-	ENSG00000019991.15	protein_coding	DFNB39|F-TCF|HGFB|HPTA|SF	7q21.11	hepatocyte growth factor	This gene encodes a protein that binds to the hepatocyte growth factor receptor to regulate cell growth, cell motility and morphogenesis in numerous cell and tissue types. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate alpha and beta chains, which form the mature heterodimer. This protein is secreted by mesenchymal cells and acts as a multi-functional cytokine on cells of mainly epithelial origin. This protein also plays a role in angiogenesis, tumorogenesis, and tissue regeneration. Although the encoded protein is a member of the peptidase S1 family of serine proteases, it lacks peptidase activity. Mutations in this gene are associated with nonsyndromic hearing loss. [provided by RefSeq, Nov 2015]
HGFAC	chr4	3441887	3449495	+	ENSG00000109758.8	protein_coding	HGFA	4p16.3	HGF activator	This gene encodes a member of the peptidase S1 protein family. The encoded protein is first synthesized as an inactive single-chain precursor before being activated to a heterodimeric form by endoproteolytic processing. It acts as serine protease that converts hepatocyte growth factor to the active form. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
HGH1	chr8	144137769	144140843	+	ENSG00000235173.6	protein_coding	BRP16|BRP16L|C8orf30A|C8orf30B|FAM203A|FAM203B	8q24.3	HGH1 homolog	Ubiquitous expression in testis (RPKM 6.8), thyroid (RPKM 5.5) and 25 other tissues
HGS	chr17	81683326	81703138	+	ENSG00000185359.12	protein_coding	HRS	17q25.3	hepatocyte growth factor-regulated tyrosine kinase substrate	The protein encoded by this gene regulates endosomal sorting and plays a critical role in the recycling and degradation of membrane receptors. The encoded protein sorts monoubiquitinated membrane proteins into the multivesicular body, targeting these proteins for lysosome-dependent degradation. [provided by RefSeq, Dec 2010]
HGSNAT	chr8	43140455	43202855	+	ENSG00000165102.14	protein_coding	HGNAT|MPS3C|RP73|TMEM76	8p11.21-p11.1	heparan-alpha-glucosaminide N-acetyltransferase	This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]
HHAT	chr1	210328252	210676296	+	ENSG00000054392.12	protein_coding	MART2|NNMS|SKI1|Skn	1q32.2	hedgehog acyltransferase	Skinny hedgehog (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of hedgehog (see MIM 600725).[supplied by OMIM, Jul 2002]
HHATL	chr3	42692663	42702827	-	ENSG00000010282.14	protein_coding	C3orf3|GUP1|MBOAT3|MSTP002|OACT3	3p22.1	hedgehog acyltransferase like	Restricted expression toward heart (RPKM 165.4)
HHATL-AS1	chr3	42702653	42706776	+	ENSG00000230970.3	antisense	-	3p22.1	HHATL antisense RNA 1	-
HHEX	chr10	92689951	92695646	+	ENSG00000152804.10	protein_coding	HEX|HMPH|HOX11L-PEN|PRH|PRHX	10q23.33	hematopoietically expressed homeobox	This gene encodes a member of the homeobox family of transcription factors, many of which are involved in developmental processes. Expression in specific hematopoietic lineages suggests that this protein may play a role in hematopoietic differentiation. [provided by RefSeq, Jul 2008]
HHIP	chr4	144646021	144745271	+	ENSG00000164161.9	protein_coding	HIP	4q31.21	hedgehog interacting protein	This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns of limbs and regulation of left-right asymmetry in embryonic development. Multiple cell-surface receptors are responsible for transducing and/or regulating HH signals. The HHIP encoded by this gene is a highly conserved, vertebrate-specific inhibitor of HH signaling. It interacts with all three HH family members, SHH, IHH and DHH. Two single nucleotide polymorphisms (SNPs) near this gene are significantly associated with risk of chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism in this gene is also strongly associated with human height.[provided by RefSeq, Feb 2011]
HHIP-AS1	chr4	144642922	144661357	-	ENSG00000248890.1	antisense	-	4q31.21	HHIP antisense RNA 1	-
HHIPL1	chr14	99645110	99680569	+	ENSG00000182218.9	protein_coding	KIAA1822|UNQ9245	14q32.2	HHIP like 1	This gene encodes a protein that belongs to the glucose/sorbosone dehydrogenase family. The encoded protein also contains a domain that binds folate and reduced folic acid derivatives. [provided by RefSeq, Jul 2016]
HHIPL2	chr1	222522258	222548103	-	ENSG00000143512.12	protein_coding	KIAA1822L	1q41	HHIP like 2	Broad expression in testis (RPKM 5.8), bone marrow (RPKM 3.9) and 24 other tissues
HHLA2	chr3	108296490	108378285	+	ENSG00000114455.13	protein_coding	B7-H5|B7-H7|B7H7|B7y	3q13.13	HERV-H LTR-associating 2	This gene encodes a protein ligand found on the surface of monocytes. The encoded protein is thought to regulate cell-mediated immunity by binding to a receptor on T lymphocytes and inhibiting the proliferation of these cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
HIBADH	chr7	27525442	27662995	-	ENSG00000106049.8	protein_coding	NS5ATP1	7p15.2	3-hydroxyisobutyrate dehydrogenase	This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011]
HIBCH	chr2	190189735	190344193	-	ENSG00000198130.15	protein_coding	HIBYLCOAH	2q32.2	3-hydroxyisobutyryl-CoA hydrolase	This gene encodes the enzyme responsible for hydrolysis of both HIBYL-CoA and beta-hydroxypropionyl-CoA. Mutations in this gene have been associated with 3-hyroxyisobutyryl-CoA hydrolase deficiency. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
HIC1	chr17	2054154	2063241	+	ENSG00000177374.12	protein_coding	ZBTB29|ZNF901|hic-1	17p13.3	HIC ZBTB transcriptional repressor 1	This gene functions as a growth regulatory and tumor repressor gene. Hypermethylation or deletion of the region of this gene have been associated with tumors and the contiguous-gene syndrome, Miller-Dieker syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2010]
HIC2	chr22	21417404	21451463	+	ENSG00000169635.9	protein_coding	HRG22|ZBTB30|ZNF907	22q11.21	HIC ZBTB transcriptional repressor 2	Broad expression in placenta (RPKM 3.4), testis (RPKM 2.9) and 25 other tissues
HIF1A	chr14	61695513	61748259	+	ENSG00000100644.16	protein_coding	HIF-1-alpha|HIF-1A|HIF-1alpha|HIF1|HIF1-ALPHA|MOP1|PASD8|bHLHe78	14q23.2	hypoxia inducible factor 1 subunit alpha	This gene encodes the alpha subunit of transcription factor hypoxia-inducible factor-1 (HIF-1), which is a heterodimer composed of an alpha and a beta subunit. HIF-1 functions as a master regulator of cellular and systemic homeostatic response to hypoxia by activating transcription of many genes, including those involved in energy metabolism, angiogenesis, apoptosis, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia. HIF-1 thus plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2011]
HIF1AN	chr10	100529072	100559998	+	ENSG00000166135.13	protein_coding	FIH1	10q24.31	hypoxia inducible factor 1 subunit alpha inhibitor	Ubiquitous expression in testis (RPKM 12.2), skin (RPKM 8.6) and 25 other tissues
HIF1AP1	chr14	75116426	75116600	-	ENSG00000258978.1	processed_pseudogene	-	14q24.3	HIF1AP pseudogene 1	-
HIGD1A	chr3	42784298	42804531	-	ENSG00000181061.13	protein_coding	HIG1|RCF1a	3p22.1	HIG1 hypoxia inducible domain family member 1A	Ubiquitous expression in colon (RPKM 73.6), heart (RPKM 47.7) and 24 other tissues
HIGD1AP10	chr11	65145691	65145972	-	ENSG00000254455.1	processed_pseudogene	-	11q13.1	HIG1 hypoxia inducible domain family member 1A pseudogene 10	-
HIGD1AP11	chr1	53073110	53073389	-	ENSG00000227644.2	processed_pseudogene	-	1p32.3	HIG1 hypoxia inducible domain family member 1A pseudogene 11	-
HIGD1AP16	chr20	35878476	35878733	+	ENSG00000219608.3	processed_pseudogene	-	20q11.23	HIG1 hypoxia inducible domain family member 1A pseudogene 16	-
HIGD1B	chr17	44846353	44850480	+	ENSG00000131097.6	protein_coding	CLST11240|CLST11240-15	17q21.31	HIG1 hypoxia inducible domain family member 1B	This gene encodes a member of the hypoxia inducible gene 1 (HIG1) domain family. The encoded protein is localized to the cell membrane and has been linked to tumorigenesis and the progression of pituitary adenomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
HIGD1C	chr12	50953922	50970506	+	ENSG00000214511.3	protein_coding	GM921	12q13.12	HIG1 hypoxia inducible domain family member 1C	Low expression observed in reference dataset
HIGD2A	chr5	176388747	176389771	+	ENSG00000146066.2	protein_coding	RCF1b	5q35.2	HIG1 hypoxia inducible domain family member 2A	The protein encoded by this gene is a subunit of the cytochrome c oxidase complex (complex IV), which is the terminal enzyme in the mitochondrial respiratory chain. The encoded protein is an inner mitochondrial membrane protein and is a functional ortholog of the yeast respiratory supercomplex factor 1 (Rcf1). In mouse, the orthologous protein enhances cell survival under conditions of hypoxia. [provided by RefSeq, Sep 2016]
HIGD2B	chr15	72675783	72686149	-	ENSG00000175202.3	protein_coding	HIGD2BP	15q24.1	HIG1 hypoxia inducible domain family member 2B	Restricted expression toward testis (RPKM 2.2)
HIKESHI	chr11	86302211	86345931	+	ENSG00000149196.15	protein_coding	C11orf73|HLD13|HSPC138|HSPC179|L7RN6|OPI10	11q14.2	heat shock protein nuclear import factor hikeshi	This gene encodes an evolutionarily conserved nuclear transport receptor that mediates heat-shock-induced nuclear import of 70 kDa heat-shock proteins (Hsp70s) through interactions with FG-nucleoporins. The protein mediates transport of the ATP form but not the ADP form of Hsp70 proteins under conditions of heat shock stress. Structural analyses demonstrate that the protein forms an asymmetric homodimer and that the N-terminal domain consists of a jelly-roll/beta-sandwich fold structure that contains hydrophobic pockets involved in FG-nucleoporin recognition. Reduction of RNA expression levels in HeLa cells using small interfering RNAs results in inhibition of heat shock-induced nuclear accumulation of Hsp70s, indicating a role for this gene in regulation of Hsp70 nuclear import during heat shock stress. [provided by RefSeq, Apr 2016]
HINFP	chr11	119121587	119136044	+	ENSG00000172273.12	protein_coding	HiNF-P|MIZF|ZNF743	11q23.3	histone H4 transcription factor	This gene encodes a transcription factor that interacts with methyl-CpG-binding protein-2 (MBD2), a component of the MeCP1 histone deacetylase (HDAC) complex, and plays a role in DNA methylation and transcription repression. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2011]
HINT1	chr5	131159027	131171735	-	ENSG00000169567.11	protein_coding	HINT|NMAN|PKCI-1|PRKCNH1	5q23.3	histidine triad nucleotide binding protein 1	This gene encodes a protein that hydrolyzes purine nucleotide phosphoramidates substrates, including AMP-morpholidate, AMP-N-alanine methyl ester, AMP-alpha-acetyl lysine methyl ester, and AMP-NH2. The encoded protein interacts with these substrates via a histidine triad motif. This gene is considered a tumor suppressor gene. In addition, mutations in this gene can cause autosomal recessive neuromyotonia and axonal neuropathy. There are several related pseudogenes on chromosome 7. Several transcript variants have been observed. [provided by RefSeq, Dec 2015]
HINT2	chr9	35812960	35815354	-	ENSG00000137133.10	protein_coding	HIT-17	9p13.3	histidine triad nucleotide binding protein 2	Histidine triad proteins, such as HINT2, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008]
HINT3	chr6	125956781	125980244	+	ENSG00000111911.6	protein_coding	HINT4	6q22.32	histidine triad nucleotide binding protein 3	Histidine triad proteins, such as HINT3, are nucleotide hydrolases and transferases that act on the alpha-phosphate of ribonucleotides (Brenner, 2002 [PubMed 12119013]).[supplied by OMIM, Mar 2008]
HIP1	chr7	75533300	75738962	-	ENSG00000127946.16	protein_coding	HIP-I|ILWEQ|SHON|SHONbeta|SHONgamma	7q11.23	huntingtin interacting protein 1	The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntingtons disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
HIP1R	chr12	122834453	122862960	+	ENSG00000130787.13	protein_coding	HIP12|HIP3|ILWEQ	12q24.31	huntingtin interacting protein 1 related	Ubiquitous expression in brain (RPKM 19.4), kidney (RPKM 16.5) and 25 other tissues
HIPK1	chr1	113929192	113977869	+	ENSG00000163349.21	protein_coding	Myak|Nbak2	1p13.2	homeodomain interacting protein kinase 1	The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. [provided by RefSeq, Jul 2008]
HIPK1-AS1	chr1	113924000	113929492	-	ENSG00000235527.6	antisense	-	1p13.2	HIPK1 antisense RNA 1	-
HIPK2	chr7	139561570	139777778	-	ENSG00000064393.15	protein_coding	PRO0593	7q34	homeodomain interacting protein kinase 2	This gene encodes a conserved serine/threonine kinase that is a member of the homeodomain-interacting protein kinase family. The encoded protein interacts with homeodomain transcription factors and many other transcription factors such as p53, and can function as both a corepressor and a coactivator depending on the transcription factor and its subcellular localization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
HIPK4	chr19	40379271	40390187	-	ENSG00000160396.8	protein_coding	-	19q13.2	homeodomain interacting protein kinase 4	Restricted expression toward testis (RPKM 7.8)
HIRA	chr22	19330698	19447450	-	ENSG00000100084.14	protein_coding	DGCR1|TUP1|TUPLE1	22q11.21	histone cell cycle regulator	This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008]
HIRIP3	chr16	29992321	29996436	-	ENSG00000149929.15	protein_coding	-	16p11.2	HIRA interacting protein 3	Broad expression in testis (RPKM 18.6), brain (RPKM 7.1) and 24 other tissues
HIVEP1	chr6	12008762	12164999	+	ENSG00000095951.16	protein_coding	CIRIP|CRYBP1|GAAP|MBP-1|PRDII-BF1|Schnurri-1|ZAS1|ZNF40|ZNF40A	6p24.1	HIVEP zinc finger 1	This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011]
HIVEP2	chr6	142751467	142956698	-	ENSG00000010818.9	protein_coding	HIV-EP2|MBP-2|MIBP1|MRD43|SHN2|ZAS2|ZNF40B	6q24.2	HIVEP zinc finger 2	This gene encodes a member of a family of closely related, large, zinc finger-containing transcription factors. The encoded protein regulates transcription by binding to regulatory regions of various cellular and viral genes that maybe involved in growth, development and metastasis. The protein contains the ZAS domain comprised of two widely separated regions of zinc finger motifs, a stretch of highly acidic amino acids and a serine/threonine-rich sequence. [provided by RefSeq, Nov 2012]
HIVEP3	chr1	41506365	42035925	-	ENSG00000127124.14	protein_coding	KBP-1|KBP1|KRC|SHN3|Schnurri-3|ZAS3|ZNF40C	1p34.2	HIVEP zinc finger 3	This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serine-threonine rich regions. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Sep 2011]
HJURP	chr2	233833416	233854566	-	ENSG00000123485.11	protein_coding	FAKTS|URLC9|hFLEG1	2q37.1	Holliday junction recognition protein	Biased expression in bone marrow (RPKM 15.6), testis (RPKM 7.0) and 11 other tissues
HK1	chr10	69269984	69401882	+	ENSG00000156515.21	protein_coding	HK|HK1-ta|HK1-tb|HK1-tc|HKD|HKI|HMSNR|HXK1|NEDVIBA|RP79|hexokinase	10q22.1	hexokinase 1	Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene results in several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016]
HK2	chr2	74833981	74893359	+	ENSG00000159399.9	protein_coding	HKII|HXK2	2p12	hexokinase 2	Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 2, the predominant form found in skeletal muscle. It localizes to the outer membrane of mitochondria. Expression of this gene is insulin-responsive, and studies in rat suggest that it is involved in the increased rate of glycolysis seen in rapidly growing cancer cells. [provided by RefSeq, Apr 2009]
HK3	chr5	176880869	176899332	-	ENSG00000160883.10	protein_coding	HKIII|HXK3	5q35.2	hexokinase 3	Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 3. Similar to hexokinases 1 and 2, this allosteric enzyme is inhibited by its product glucose-6-phosphate. [provided by RefSeq, Apr 2009]
HKDC1	chr10	69220303	69267559	+	ENSG00000156510.12	protein_coding	-	10q22.1	hexokinase domain containing 1	Biased expression in duodenum (RPKM 22.5), small intestine (RPKM 21.3) and 6 other tissues
HLA-A	chr6	29941260	29945884	+	ENSG00000206503.12	protein_coding	HLAA	6p22.1	major histocompatibility complex, class I, A	HLA-A belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen so that they can be recognized by cytotoxic T cells. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. More than 6000 HLA-A alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020]
HLA-B	chr6	31269491	31357188	-	ENSG00000234745.10	protein_coding	AS|B-4901|HLAB	6p21.33	major histocompatibility complex, class I, B	HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]
HLA-C	chr6	31268749	31272130	-	ENSG00000204525.16	protein_coding	D6S204|HLA-JY3|HLAC|HLC-C|MHC|PSORS1	6p21.33	major histocompatibility complex, class I, C	HLA-C belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. About 6000 HLA-C alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020]
HLA-DMA	chr6	32948613	32969094	-	ENSG00000204257.14	protein_coding	D6S222E|DMA|HLADM|RING6	6p21.32	major histocompatibility complex, class II, DM alpha	HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. [provided by RefSeq, Jul 2008]
HLA-DMB	chr6	32934629	32941070	-	ENSG00000242574.8	protein_coding	D6S221E|RING7	6p21.32	major histocompatibility complex, class II, DM beta	HLA-DMB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta (DMB) chain, both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP (class II-associated invariant chain peptide) molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]
HLA-DOA	chr6	33004178	33009612	-	ENSG00000204252.13	protein_coding	HLA-DNA|HLA-DZA|HLADZ	6p21.32	major histocompatibility complex, class II, DO alpha	HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence variation, especially at the protein level. [provided by RefSeq, Jul 2008]
HLA-DOB	chr6	32812763	32817048	-	ENSG00000241106.6	protein_coding	DOB|HLA_DOB	6p21.32	major histocompatibility complex, class II, DO beta	HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]
HLA-DPA1	chr6	33064569	33080775	-	ENSG00000231389.7	protein_coding	DP(W3)|DP(W4)|DPA1|HLA-DP1A|HLA-DPA|HLA-DPB1|HLADP|HLASB|PLT1	6p21.32	major histocompatibility complex, class II, DP alpha 1	HLA-DPA1 belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta (DPB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]
HLA-DPA2	chr6	33091753	33097295	-	ENSG00000231461.1	unprocessed_pseudogene	HLA-DP2A	6p21.32	major histocompatibility complex, class II, DP alpha 2 (pseudogene)	-
HLA-DPA3	chr6	33131216	33143325	-	ENSG00000237398.1	unprocessed_pseudogene	dJ1033B10.14	6p21.32	major histocompatibility complex, class II, DP alpha 3 (pseudogene)	-
HLA-DPB1	chr6	33075926	33087201	+	ENSG00000223865.10	protein_coding	DPB1|HLA-DP|HLA-DP1B|HLA-DPB	6p21.32	major histocompatibility complex, class II, DP beta 1	HLA-DPB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DPA) and a beta chain (DPB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DP molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. [provided by RefSeq, Jul 2008]
HLA-DPB2	chr6	33112451	33129084	+	ENSG00000224557.7	transcribed_unprocessed_pseudogene	DP2B|DPB2|DPbeta2|HLA-DP2B	6p21.32	major histocompatibility complex, class II, DP beta 2 (pseudogene)	Biased expression in lymph node (RPKM 1.2), spleen (RPKM 1.0) and 10 other tissues
HLA-DQA1	chr6	32628179	32647062	+	ENSG00000196735.11	protein_coding	CELIAC1|DQ-A1|DQA1|HLA-DQA	6p21.32	major histocompatibility complex, class II, DQ alpha 1	HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. [provided by RefSeq, Jul 2008]
HLA-DQA2	chr6	32741342	32747215	+	ENSG00000237541.3	protein_coding	DC-alpha|DX-ALPHA|HLA-DCA|HLA-DXA|HLADQA2	6p21.32	major histocompatibility complex, class II, DQ alpha 2	This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic peptides on the cell surface to be recognized by CD4 T-cells. [provided by RefSeq, Jun 2010]
HLA-DQB1	chr6	32659467	32668383	-	ENSG00000179344.16	protein_coding	CELIAC1|HLA-DQB|IDDM1	6p21.32	major histocompatibility complex, class II, DQ beta 1	HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
HLA-DQB1-AS1	chr6	32659880	32660729	+	ENSG00000223534.1	antisense	-	6p21.32	HLA-DQB1 antisense RNA 1	-
HLA-DQB2	chr6	32756098	32763534	-	ENSG00000232629.8	protein_coding	DQB2|HLA-DQB1|HLA-DXB	6p21.32	major histocompatibility complex, class II, DQ beta 2	HLA-DQB2 belongs to the family of HLA class II beta chain paralogs. Class II molecules are heterodimers consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. They play a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). Polymorphisms in the alpha and beta chains specify the peptide binding specificity, and typing for these polymorphisms is routinely done for bone marrow transplantation. However this gene, HLA-DQB2, is not routinely typed, as it is not thought to have an effect on transplantation. There is conflicting evidence in the literature and public sequence databases for the protein-coding capacity of HLA-DQB2. Because there is evidence of transcription and an intact ORF, HLA-DQB2 is represented in Entrez Gene and in RefSeq as a protein-coding locus. [provided by RefSeq, Oct 2010]
HLA-DRA	chr6	32439842	32445046	+	ENSG00000204287.13	protein_coding	HLA-DRA1	6p21.32	major histocompatibility complex, class II, DR alpha	HLA-DRA is one of the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha and a beta chain, both anchored in the membrane. This molecule is expressed on the surface of various antigen presenting cells such as B lymphocytes, dendritic cells, and monocytes/macrophages, and plays a central role in the immune system and response by presenting peptides derived from extracellular proteins, in particular, pathogen-derived peptides to T cells. The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. DRA does not have polymorphisms in the peptide binding part and acts as the sole alpha chain for DRB1, DRB3, DRB4 and DRB5. [provided by RefSeq, Aug 2020]
HLA-DRB1	chr6	32578769	32589848	-	ENSG00000196126.11	protein_coding	DRB1|HLA-DR1B|HLA-DRB|SS1	6p21.32	major histocompatibility complex, class II, DR beta 1	HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]
HLA-DRB2	chr6	 3972319	3987751	-	-	pseudogene	HLA-DR2B	6p21.3	major histocompatibility complex, class II, DR beta 2 (pseudogene)	-
HLA-DRB4	chr6	 3840427	3855395	-	-	protein-coding	DR4|DRB4|HLA-DR4B|HLA-DRB4*	6p21.3	major histocompatibility complex, class II, DR beta 4	Annotation category: only annotated on alternate loci in reference assembly
HLA-DRB5	chr6	32517343	32530287	-	ENSG00000198502.5	protein_coding	HLA-DRB5*	6p21.32	major histocompatibility complex, class II, DR beta 5	HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020]
HLA-DRB6	chr6	32552713	32560022	-	ENSG00000229391.7	transcribed_unprocessed_pseudogene	-	6p21.32	major histocompatibility complex, class II, DR beta 6 (pseudogene)	-
HLA-DRB9	chr6	32459821	32473500	-	ENSG00000196301.3	unprocessed_pseudogene	D6S206|D6S206E|HLA-DR1BL|HLA-DRB1L	6p21.32	major histocompatibility complex, class II, DR beta 9 (pseudogene)	-
HLA-E	chr6	30489467	30494205	+	ENSG00000204592.8	protein_coding	HLA-6.2|QA1	6p22.1	major histocompatibility complex, class I, E	HLA-E belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-E binds a restricted subset of peptides derived from the leader peptides of other class I molecules. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. [provided by RefSeq, Jul 2008]
HLA-F	chr6	29722775	29738528	+	ENSG00000204642.13	protein_coding	CDA12|HLA-5.4|HLA-CDA12|HLAF	6p22.1	major histocompatibility complex, class I, F	This gene belongs to the HLA class I heavy chain paralogues. It encodes a non-classical heavy chain that forms a heterodimer with a beta-2 microglobulin light chain, with the heavy chain anchored in the membrane. Unlike most other HLA heavy chains, this molecule is localized in the endoplasmic reticulum and Golgi apparatus, with a small amount present at the cell surface in some cell types. It contains a divergent peptide-binding groove, and is thought to bind a restricted subset of peptides for immune presentation. This gene exhibits few polymorphisms. Multiple transcript variants encoding different isoforms have been found for this gene. These variants lack a coding exon found in transcripts from other HLA paralogues due to an altered splice acceptor site, resulting in a shorter cytoplasmic domain. [provided by RefSeq, Jul 2008]
HLA-F-AS1	chr6	29726601	29749049	-	ENSG00000214922.9	processed_transcript	-	6p22.1	HLA-F antisense RNA 1	-
HLA-G	chr6	29826967	29831125	+	ENSG00000204632.11	protein_coding	MHC-G	6p22.1	major histocompatibility complex, class I, G	HLA-G belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-G is expressed on fetal derived placental cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domain, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exon 6 encodes the cytoplasmic tail. [provided by RefSeq, Jul 2008]
HLA-H	chr6	29887752	29890482	+	ENSG00000206341.7	unprocessed_pseudogene	HLAHP	6p22.1	major histocompatibility complex, class I, H (pseudogene)	Ubiquitous expression in lymph node (RPKM 80.8), bone marrow (RPKM 75.9) and 25 other tissues
HLA-J	chr6	30005971	30009956	+	ENSG00000204622.11	transcribed_unprocessed_pseudogene	CDA12|D6S203|HLA-59|HLA-CDA12	6p22.1	major histocompatibility complex, class I, J (pseudogene)	This major histocompatibility complex gene represents a transcribed pseudogene, possibly derived from HLA-A. [provided by RefSeq, May 2010]
HLA-K	chr6	29926459	29929232	+	ENSG00000230795.3	unprocessed_pseudogene	HLA-70|HLA70|HLAK	6p22.1	major histocompatibility complex, class I, K (pseudogene)	-
HLA-L	chr6	30259584	30293014	+	ENSG00000243753.5	transcribed_unprocessed_pseudogene	HLA-92|HLA92|HLAL	6p22.1	major histocompatibility complex, class I, L (pseudogene)	Broad expression in brain (RPKM 1.3), lymph node (RPKM 1.1) and 21 other tissues
HLA-P	chr6	29800415	29802425	+	ENSG00000261548.1	unprocessed_pseudogene	C6orf101|HLA-90|dJ377H14.3	6p22.1	major histocompatibility complex, class I, P (pseudogene)	-
HLA-S	chr6	31382074	31382288	-	ENSG00000225851.1	unprocessed_pseudogene	HLA-17	6p21.33	major histocompatibility complex, class I, S (pseudogene)	-
HLA-T	chr6	29896654	29897786	+	ENSG00000231130.1	unprocessed_pseudogene	HLA-16	6p22.1	major histocompatibility complex, class I, T (pseudogene)	-
HLA-U	chr6	29934101	29934286	+	ENSG00000228078.1	unprocessed_pseudogene	HLA-21	6p22.1	major histocompatibility complex, class I, U (pseudogene)	-
HLA-V	chr6	29790954	29797811	+	ENSG00000181126.13	transcribed_unprocessed_pseudogene	HLA-75|dJ377H14.4	6p22.1	major histocompatibility complex, class I, V (pseudogene)	-
HLA-W	chr6	29956596	29958570	+	ENSG00000235290.1	unprocessed_pseudogene	HLA-80	6p22.1	major histocompatibility complex, class I, W (pseudogene)	-
HLCS-IT1	chr21	36803984	36806284	-	ENSG00000237646.1	sense_intronic	bde1	21q22.13	HLCS intronic transcript 1	-
HLF	chr17	55265012	55325065	+	ENSG00000108924.13	protein_coding	-	17q22	HLF transcription factor, PAR bZIP family member	Broad expression in liver (RPKM 22.6), brain (RPKM 22.4) and 18 other tissues
HLTF	chr3	149030127	149086554	-	ENSG00000071794.15	protein_coding	HIP116|HIP116A|HLTF1|RNF80|SMARCA3|SNF2L3|ZBU1	3q24	helicase like transcription factor	This gene encodes a member of the SWI/SNF family. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein contains a RING finger DNA binding motif. Two transcript variants encoding the same protein have been found for this gene. However, use of an alternative translation start site produces an isoform that is truncated at the N-terminus compared to the full-length protein. [provided by RefSeq, Jul 2008]
HLX	chr1	220879400	220885059	+	ENSG00000136630.12	protein_coding	HB24|HLX1	1q41	H2.0 like homeobox	Broad expression in bone marrow (RPKM 18.6), fat (RPKM 10.7) and 19 other tissues
HM13	chr20	31514428	31577923	+	ENSG00000101294.16	protein_coding	H13|IMP1|IMPAS|IMPAS-1|MSTP086|PSENL3|PSL3|SPP|SPPL1	20q11.21	histocompatibility minor 13	The protein encoded by this gene, which localizes to the endoplasmic reticulum, catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein. This activity is required to generate signal sequence-derived human lymphocyte antigen-E epitopes that are recognized by the immune system, and to process hepatitis C virus core protein. The encoded protein is an integral membrane protein with sequence motifs characteristic of the presenilin-type aspartic proteases. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
HM13-AS1	chr20	31567707	31573263	-	ENSG00000230613.1	antisense	-	20q11.21	HM13 antisense RNA 1	-
HM13-IT1	chr20	31563166	31564076	+	ENSG00000235313.1	sense_intronic	-	20q11.21	HM13 intronic transcript 1	-
HMBOX1	chr8	28890394	29064764	+	ENSG00000147421.17	protein_coding	HNF1LA|HOT1|PBHNF|TAH1	8p21.1-p12	homeobox containing 1	Ubiquitous expression in adrenal (RPKM 3.8), testis (RPKM 3.5) and 25 other tissues
HMBS	chr11	119084866	119093549	+	ENSG00000256269.7	protein_coding	PBG-D|PBGD|PORC|UPS	11q23.3	hydroxymethylbilane synthase	This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
HMCES	chr3	129278828	129306186	+	ENSG00000183624.13	protein_coding	C3orf37|DC12|SRAPD1	3q21.3	5-hydroxymethylcytosine binding, ES cell specific	Ubiquitous expression in lymph node (RPKM 40.1), testis (RPKM 20.9) and 24 other tissues
HMCN1	chr1	185734551	186190949	+	ENSG00000143341.11	protein_coding	ARMD1|FBLN6|FIBL-6|FIBL6	1q25.3-q31.1	hemicentin 1	This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008]
HMCN2	chr9	130265882	130434123	+	ENSG00000148357.16	protein_coding	-	9q34.11	hemicentin 2	-
HMG20A	chr15	77420412	77485607	+	ENSG00000140382.14	protein_coding	HMGX1|HMGXB1	15q24.3	high mobility group 20A	Ubiquitous expression in spleen (RPKM 13.0), testis (RPKM 10.4) and 25 other tissues
HMG20B	chr19	3572777	3579088	+	ENSG00000064961.18	protein_coding	BRAF25|BRAF35|HMGX2|HMGXB2|PP7706|SMARCE1r|SOXL|pp8857	19p13.3	high mobility group 20B	Ubiquitous expression in prostate (RPKM 40.0), kidney (RPKM 22.5) and 25 other tissues
HMGA1	chr6	34236873	34246231	+	ENSG00000137309.19	protein_coding	HMG-R|HMGA1A|HMGIY	6p21.31	high mobility group AT-hook 1	This gene encodes a chromatin-associated protein involved in the regulation of gene transcription, integration of retroviruses into chromosomes, and the metastatic progression of cancer cells. The encoded protein preferentially binds to the minor groove of AT-rich regions in double-stranded DNA. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been identified on multiple chromosomes. [provided by RefSeq, Jan 2016]
HMGA2	chr12	65824131	65966295	+	ENSG00000149948.13	protein_coding	BABL|HMGI-C|HMGIC|LIPO|SRS5|STQTL9	12q14.3	high mobility group AT-hook 2	This gene encodes a protein that belongs to the non-histone chromosomal high mobility group (HMG) protein family. HMG proteins function as architectural factors and are essential components of the enhancesome. This protein contains structural DNA-binding domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement of this gene that are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymal differentiation. A gene knock out study of the mouse counterpart demonstrated that this gene is involved in diet-induced obesity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
HMGA2-AS1	chr12	 65851227	65882325	-	ENSG00000197301	ncRNA	-	12q14.3	HMGA2 antisense RNA 1	-
HMGB1	chr13	30456704	30617597	-	ENSG00000189403.14	protein_coding	HMG-1|HMG1|HMG3|SBP-1	13q12.3	high mobility group box 1	This gene encodes a protein that belongs to the High Mobility Group-box superfamily. The encoded non-histone, nuclear DNA-binding protein regulates transcription, and is involved in organization of DNA. This protein plays a role in several cellular processes, including inflammation, cell differentiation and tumor cell migration. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2015]
HMGB1P21	chr5	78644265	78644845	-	ENSG00000248909.1	processed_pseudogene	-	5q14.1	high mobility group box 1 pseudogene 21	-
HMGB1P27	chr2	191174233	191174835	+	ENSG00000230611.1	processed_pseudogene	-	2q32.3	high mobility group box 1 pseudogene 27	-
HMGB1P31	chr2	54051334	54051760	+	ENSG00000233266.1	processed_pseudogene	-	2p16.2	high mobility group box 1 pseudogene 31	-
HMGB1P45	chr1	50398825	50399773	-	ENSG00000229316.1	processed_pseudogene	-	1p32.3	high mobility group box 1 pseudogene 45	-
HMGB1P8	chr15	89135547	89136495	-	ENSG00000259699.2	processed_pseudogene	HMG1L8|HMGB1L8	15q26.1	high mobility group box 1 pseudogene 8	-
HMGB2P1	chr19	1203209	1203842	+	ENSG00000267736.2	transcribed_processed_pseudogene	-	19p13.3	high mobility group box 2 pseudogene 1	-
HMGB3P1	chr20	34833575	34834462	-	ENSG00000225336.2	processed_pseudogene	HMG4L|HMGB3L1|dJ18C9.3	20q11.22	high mobility group box 3 pseudogene 1	-
HMGB3P22	chr5	179679032	179694768	+	ENSG00000225051.5	transcribed_processed_pseudogene	-	5q35.3	high mobility group box 3 pseudogene 22	-
HMGB3P24	chr9	36303499	36304924	-	ENSG00000215283.3	processed_pseudogene	-	9p13.2	high mobility group box 3 pseudogene 24	-
HMGB3P4	chr13	99372173	99372686	+	ENSG00000228808.1	processed_pseudogene	-	13q32.3	high mobility group box 3 pseudogene 4	-
HMGB3P9	chr1	92647048	92647630	-	ENSG00000229992.1	processed_pseudogene	-	1p22.1	high mobility group box 3 pseudogene 9	-
HMGB4	chr1	33860475	33864791	+	ENSG00000176256.10	protein_coding	dJ1007G16.5	1p35.1	high mobility group box 4	Restricted expression toward testis (RPKM 70.9)
HMGCL	chr1	23801885	23838620	-	ENSG00000117305.14	protein_coding	HL	1p36.11	3-hydroxy-3-methylglutaryl-CoA lyase	The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
HMGCLL1	chr6	55434369	55579214	-	ENSG00000146151.12	protein_coding	ERCHL|bA418P12.1|er-cHL	6p12.1	3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1	Broad expression in brain (RPKM 2.9), adrenal (RPKM 1.2) and 14 other tissues
HMGCR	chr5	75336329	75362104	+	ENSG00000113161.15	protein_coding	LDLCQ3	5q13.3	3-hydroxy-3-methylglutaryl-CoA reductase	HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
HMGN1	chr21	39342315	39349647	-	ENSG00000205581.10	protein_coding	HMG14	21q22.2	high mobility group nucleosome binding domain 1	The protein encoded by this gene binds nucleosomal DNA and is associated with transcriptionally active chromatin. Along with a similar protein, HMG17, the encoded protein may help maintain an open chromatin configuration around transcribable genes. [provided by RefSeq, Aug 2011]
HMGN1P10	chr3	136609050	136609602	+	ENSG00000244101.1	processed_pseudogene	-	3q22.3	high mobility group nucleosome binding domain 1 pseudogene 10	-
HMGN1P17	chr5	56381781	56382075	+	ENSG00000250787.1	processed_pseudogene	-	5q11.2	high mobility group nucleosome binding domain 1 pseudogene 17	-
HMGN1P4	chr1	182942115	182942404	-	ENSG00000224040.1	processed_pseudogene	-	1q25.3	high mobility group nucleosome binding domain 1 pseudogene 4	-
HMGN1P7	chr3	93988634	93988946	-	ENSG00000239614.1	processed_pseudogene	-	3q11.1	high mobility group nucleosome binding domain 1 pseudogene 7	-
HMGN2	chr1	26472450	26475972	+	ENSG00000198830.10	protein_coding	HMG17	1p36.11	high mobility group nucleosomal binding domain 2	The protein encoded by this gene binds nucleosomal DNA and is associated with transcriptionally active chromatin. Along with a similar protein, HMGN1, the encoded protein may help maintain an open chromatin configuration around transcribable genes. The protein has also been found to have antimicrobial activity against bacteria, viruses and fungi. [provided by RefSeq, Oct 2014]
HMGN2P15	chr17	42753530	42753799	-	ENSG00000214578.5	processed_pseudogene	-	17q21.2	high mobility group nucleosomal binding domain 2 pseudogene 15	-
HMGN2P17	chr1	8893409	8894151	+	ENSG00000238249.2	processed_pseudogene	-	1p36.23	high mobility group nucleosomal binding domain 2 pseudogene 17	-
HMGN2P18	chr1	155148544	155148813	+	ENSG00000223452.3	processed_pseudogene	-	1q22	high mobility group nucleosomal binding domain 2 pseudogene 18	-
HMGN2P19	chr1	229570532	229570796	+	ENSG00000229367.1	processed_pseudogene	-	1q42.13	high mobility group nucleosomal binding domain 2 pseudogene 19	-
HMGN2P4	chr5	76242024	76242404	-	ENSG00000249014.2	processed_pseudogene	HMGN2L4	5q13.3	high mobility group nucleosomal binding domain 2 pseudogene 4	-
HMGN3	chr6	79201245	79234738	-	ENSG00000118418.14	protein_coding	PNAS-24|PNAS-25|TRIP7	6q14.1	high mobility group nucleosomal binding domain 3	The protein encoded by this gene binds thyroid hormone receptor beta in the presence of thyroid hormone. The encoded protein, a member of the HMGN protein family, is thought to reduce the compactness of the chromatin fiber in nucleosomes, thereby enhancing transcription from chromatin templates. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. There is a related pseudogene on chromosome 1. [provided by RefSeq, Jan 2016]
HMGN3-AS1	chr6	79233718	79236797	+	ENSG00000270362.1	antisense	-	6q14.1	HMGN3 antisense RNA 1	-
HMGN4	chr6	26538405	26546254	+	ENSG00000182952.4	protein_coding	HMG17L3|NHC	6p22.2	high mobility group nucleosomal binding domain 4	The protein encoded by this gene, a member of the HMGN protein family, is thought to reduce the compactness of the chromatin fiber in nucleosomes, thereby enhancing transcription from chromatin templates. [provided by RefSeq, Mar 2013]
HMGXB3	chr5	150000046	150053142	+	ENSG00000113716.12	protein_coding	HMGX3|SMF	5q32	HMG-box containing 3	This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins. [provided by RefSeq, Aug 2011]
HMGXB4	chr22	35257452	35295807	+	ENSG00000100281.13	protein_coding	HMG2L1|HMGBCG|P53N|THC211630	22q12.3	HMG-box containing 4	High mobility group (HMG) proteins are nonhistone chromosomal proteins. See HMG2 (MIM 163906) for additional information on HMG proteins.[supplied by OMIM, Nov 2010]
HMHB1	chr5	143812161	143820719	+	ENSG00000158497.3	protein_coding	HB-1|HB-1Y|HLA-HB1	5q31.3	histocompatibility minor HB-1	This gene encodes one of the minor histocompatibility antigens, which play an important role in the induction of cytotoxic T lymphocyte (CTL) reactivity against leukemia after human histocompatibility leukocyte antigen (HLA)-identical allogeneic bone marrow transplantation (BMT). This gene is only expressed in B cell acute lymphoblastic leukemia cells and Epstein-Barr virus-transformed B cells. The translation of this mRNA initiates at a non-AUG (CUG) codon. [provided by RefSeq, Jul 2008]
HMOX1	chr22	35380361	35394214	+	ENSG00000100292.16	protein_coding	HMOX1D|HO-1|HSP32|bK286B10	22q12.3	heme oxygenase 1	Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. [provided by RefSeq, Jul 2008]
HMOX2	chr16	4474690	4510347	+	ENSG00000103415.11	protein_coding	HO-2	16p13.3	heme oxygenase 2	Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. Several alternatively spliced transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
HMSD	chr18	63949301	63981774	+	ENSG00000221887.5	protein_coding	ACC-6|ACC6|C18orf53|HSMD-v	18q22.1	histocompatibility minor serpin domain containing	This gene encodes a serpin-domain containing protein that may function as a serine protease inhibitor. This gene is primarily expressed in cells of myeloid lineage. A polymorphism in this gene may result in the expression a splice variant that encodes a minor histocompatibility antigen. [provided by RefSeq, Oct 2010]
HMX1	chr4	8846076	8871817	-	ENSG00000215612.7	protein_coding	H6|NKX5-3	4p16.1	H6 family homeobox 1	This gene encodes a transcription factor that belongs to the H6 family of homeobox proteins. This protein can bind a 5-CAAG-3 core DNA sequence, and it is involved in the development of craniofacial structures. Mutations in this gene cause oculoauricular syndrome, a disorder of the eye and external ear. [provided by RefSeq, Oct 2009]
HNF1A	chr12	120978543	121002512	+	ENSG00000135100.17	protein_coding	HNF-1A|HNF1|HNF1alpha|HNF4A|IDDM20|LFB1|MODY3|TCF-1|TCF1	12q24.31	HNF1 homeobox A	The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5-GTTAATNATTAAC-3. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
HNF1B	chr17	37686432	37745247	-	ENSG00000275410.4	protein_coding	ADTKD3|FJHN|HNF-1-beta|HNF-1B|HNF1beta|HNF2|HPC11|LF-B3|LFB3|MODY5|RCAD|T2D|TCF-2|TCF2|VHNF1	17q12	HNF1 homeobox B	This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
HNF4A	chr20	44355700	44434596	+	ENSG00000101076.16	protein_coding	FRTS4|HNF4|HNF4a7|HNF4a8|HNF4a9|HNF4alpha|MODY|MODY1|NR2A1|NR2A21|TCF|TCF-14|TCF14	20q13.12	hepatocyte nuclear factor 4 alpha	The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]
HNF4G	chr8	75407914	75566843	+	ENSG00000164749.11	protein_coding	NR2A2|NR2A3	8q21.13	hepatocyte nuclear factor 4 gamma	Biased expression in small intestine (RPKM 55.0), duodenum (RPKM 46.4) and 5 other tissues
HNMT	chr2	137964020	138016364	+	ENSG00000150540.13	protein_coding	HMT|HNMT-S1|HNMT-S2|MRT51	2q22.1	histamine N-methyltransferase	In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first enzyme which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. In the mammalian brain, the neurotransmitter activity of histamine is controlled by N(tau)-methylation as diamine oxidase is not found in the central nervous system. A common genetic polymorphism affects the activity levels of this gene product in red blood cells. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
HNRNPA0	chr5	137745651	137754376	-	ENSG00000177733.6	protein_coding	HNRPA0	5q31.2	heterogeneous nuclear ribonucleoprotein A0	This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind RNAs, followed by a glycine-rich C-terminus. [provided by RefSeq, Jul 2008]
HNRNPA1	chr12	54280193	54287088	+	ENSG00000135486.17	protein_coding	ALS19|ALS20|HNRPA1|HNRPA1L3|IBMPFD3|UP 1|hnRNP A1|hnRNP-A1	12q13.13	heterogeneous nuclear ribonucleoprotein A1	This gene encodes a member of a family of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs), which are RNA-binding proteins that associate with pre-mRNAs in the nucleus and influence pre-mRNA processing, as well as other aspects of mRNA metabolism and transport. The protein encoded by this gene is one of the most abundant core proteins of hnRNP complexes and plays a key role in the regulation of alternative splicing. Mutations in this gene have been observed in individuals with amyotrophic lateral sclerosis 20. Multiple alternatively spliced transcript variants have been found. There are numerous pseudogenes of this gene distributed throughout the genome. [provided by RefSeq, Feb 2016]
HNRNPA1P16	chr17	2306761	2307715	+	ENSG00000262333.1	processed_pseudogene	-	17p13.3	heterogeneous nuclear ribonucleoprotein A1 pseudogene 16	-
HNRNPA1P2	chr6	32325219	32326178	+	ENSG00000237285.1	processed_pseudogene	HNRPA1P2|dJ372B18.1	6p21.32	heterogeneous nuclear ribonucleoprotein A1 pseudogene 2	-
HNRNPA1P22	chr3	42889361	42890306	+	ENSG00000236459.1	processed_pseudogene	-	3p22.1	heterogeneous nuclear ribonucleoprotein A1 pseudogene 22	-
HNRNPA1P30	chr13	20938564	20949599	-	ENSG00000233780.3	transcribed_processed_pseudogene	-	13q12.11	heterogeneous nuclear ribonucleoprotein A1 pseudogene 30	-
HNRNPA1P36	chr8	81807772	81808726	+	ENSG00000231942.3	processed_pseudogene	-	8q21.13	heterogeneous nuclear ribonucleoprotein A1 pseudogene 36	-
HNRNPA1P46	chr1	191146025	191146961	-	ENSG00000228020.2	processed_pseudogene	-	1q31.2	heterogeneous nuclear ribonucleoprotein A1 pseudogene 46	-
HNRNPA1P54	chr1	179447602	179457315	-	ENSG00000236539.3	processed_pseudogene	-	1q25.2	heterogeneous nuclear ribonucleoprotein A1 pseudogene 54	-
HNRNPA1P57	chr2	41143780	41157555	+	ENSG00000237442.3	transcribed_processed_pseudogene	-	2p22.1	heterogeneous nuclear ribonucleoprotein A1 pseudogene 57	-
HNRNPA1P61	chr2	33636502	33637425	+	ENSG00000187999.4	processed_pseudogene	-	2p22.3	heterogeneous nuclear ribonucleoprotein A1 pseudogene 61	-
HNRNPA1P70	chr12	68035767	68036853	+	ENSG00000236946.2	processed_pseudogene	-	12q15	heterogeneous nuclear ribonucleoprotein A1 pseudogene 70	-
HNRNPA1P8	chr7	84983556	84984506	+	ENSG00000229251.3	processed_pseudogene	-	7q21.11	heterogeneous nuclear ribonucleoprotein A1 pseudogene 8	-
HNRNPA1P9	chr7	87521461	87522410	+	ENSG00000231956.1	processed_pseudogene	-	7q21.12	heterogeneous nuclear ribonucleoprotein A1 pseudogene 9	-
HNRNPA2B1	chr7	26189927	26201529	-	ENSG00000122566.20	protein_coding	HNRNPA2|HNRNPB1|HNRPA2|HNRPA2B1|HNRPB1|IBMPFD2|RNPA2|SNRPB1	7p15.2	heterogeneous nuclear ribonucleoprotein A2/B1	This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. This gene has been described to generate two alternatively spliced transcript variants which encode different isoforms. [provided by RefSeq, Jul 2008]
HNRNPA3P2	chr20	36620403	36621423	+	ENSG00000227688.2	unprocessed_pseudogene	HNRPA3P|HNRPA3P2|dJ977B1.2	20q11.23	heterogeneous nuclear ribonucleoprotein A3 pseudogene 2	-
HNRNPA3P7	chr5	154337471	154338452	-	ENSG00000253119.1	processed_pseudogene	-	5q33.2	heterogeneous nuclear ribonucleoprotein A3 pseudogene 7	-
HNRNPA3P9	chr11	32591793	32592771	-	ENSG00000270903.1	processed_pseudogene	-	11p13	heterogeneous nuclear ribonucleoprotein A3 pseudogene 9	-
HNRNPC	chr14	21209136	21269494	-	ENSG00000092199.17	protein_coding	C1|C2|HNRNP|HNRPC|SNRPC	14q11.2	heterogeneous nuclear ribonucleoprotein C	This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene can act as a tetramer and is involved in the assembly of 40S hnRNP particles. Multiple transcript variants encoding at least two different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
HNRNPCP4	chr16	11242653	11243552	+	ENSG00000263179.1	processed_pseudogene	-	16p13.13	heterogeneous nuclear ribonucleoprotein C pseudogene 4	-
HNRNPCP6	chr11	85020785	85021655	-	ENSG00000213305.3	processed_pseudogene	-	11q14.1	heterogeneous nuclear ribonucleoprotein C pseudogene 6	-
HNRNPCP7	chr7	64500825	64501729	+	ENSG00000228653.2	processed_pseudogene	-	7q11.21	heterogeneous nuclear ribonucleoprotein C pseudogene 7	-
HNRNPD	chr4	82352498	82374503	-	ENSG00000138668.18	protein_coding	AUF1|AUF1A|HNRPD|P37|hnRNPD0	4q21.22	heterogeneous nuclear ribonucleoprotein D	This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are nucleic acid binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It localizes to both the nucleus and the cytoplasm. This protein is implicated in the regulation of mRNA stability. Alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]
HNRNPDL	chr4	82422564	82430408	-	ENSG00000152795.17	protein_coding	HNRNP|HNRPDL|JKTBP|JKTBP2|LGMD1G|LGMDD3|laAUF1	4q21.22	heterogeneous nuclear ribonucleoprotein D like	This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind to RNAs. Three alternatively spliced transcript variants have been described for this gene. One of the variants is probably not translated because the transcript is a candidate for nonsense-mediated mRNA decay. The protein isoforms encoded by this gene are similar to its family member HNRPD. [provided by RefSeq, May 2011]
HNRNPF	chr10	43385617	43409166	-	ENSG00000169813.16	protein_coding	HNRPF|OK/SW-cl.23|mcs94-1	10q11.21	heterogeneous nuclear ribonucleoprotein F	This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs which have guanosine-rich sequences. This protein is very similar to the family member hnRPH. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
HNRNPFP1	chr1	42040597	42041729	+	ENSG00000227538.1	processed_pseudogene	-	1p34.2	heterogeneous nuclear ribonucleoprotein F pseudogene 1	-
HNRNPH1	chr5	179614178	179634784	-	ENSG00000169045.17	protein_coding	HNRPH|HNRPH1|hnRNPH	5q35.3	heterogeneous nuclear ribonucleoprotein H1	This gene encodes a member of a subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA. These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some may shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNA and is very similar to the family member HNRPF. This gene may be associated with hereditary lymphedema type I. Alternatively spliced transcript variants have been described [provided by RefSeq, Mar 2012]
HNRNPH3	chr10	68331174	68343191	+	ENSG00000096746.17	protein_coding	2H9|HNRPH3	10q21.3	heterogeneous nuclear ribonucleoprotein H3	This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. It is localized in nuclear bodies of the nucleus. This protein is involved in the splicing process and it also participates in early heat shock-induced splicing arrest by transiently leaving the hnRNP complexes. Several alternatively spliced transcript variants have been noted for this gene, however, not all are fully characterized. [provided by RefSeq, Jul 2008]
HNRNPK	chr9	83968083	83980616	-	ENSG00000165119.20	protein_coding	AUKS|CSBP|HNRPK|TUNP	9q21.32	heterogeneous nuclear ribonucleoprotein K	This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene is located in the nucleoplasm and has three repeats of KH domains that binds to RNAs. It is distinct among other hnRNP proteins in its binding preference; it binds tenaciously to poly(C). This protein is also thought to have a role during cell cycle progession. Several alternatively spliced transcript variants have been described for this gene, however, not all of them are fully characterized. [provided by RefSeq, Jul 2008]
HNRNPKP1	chr5	127511464	127512842	-	ENSG00000250859.1	processed_pseudogene	-	5q23.2	heterogeneous nuclear ribonucleoprotein K pseudogene 1	-
HNRNPKP3	chr11	43120762	43269393	-	ENSG00000251557.2	transcribed_processed_pseudogene	-	11p12	heterogeneous nuclear ribonucleoprotein K pseudogene 3	-
HNRNPL	chr19	38836388	38852347	-	ENSG00000104824.16	protein_coding	HNRPL|P/OKcl.14|hnRNP-L	19q13.2	heterogeneous nuclear ribonucleoprotein L	Heterogeneous nuclear RNAs (hnRNAs) which include mRNA precursors and mature mRNAs are associated with specific proteins to form heterogenous ribonucleoprotein (hnRNP) complexes. Heterogeneous nuclear ribonucleoprotein L is among the proteins that are stably associated with hnRNP complexes and along with other hnRNP proteins is likely to play a major role in the formation, packaging, processing, and function of mRNA. Heterogeneous nuclear ribonucleoprotein L is present in the nucleoplasm as part of the HNRP complex. HNRP proteins have also been identified outside of the nucleoplasm. Exchange of hnRNP for mRNA-binding proteins accompanies transport of mRNA from the nucleus to the cytoplasm. Since HNRP proteins have been shown to shuttle between the nucleus and the cytoplasm, it is possible that they also have cytoplasmic functions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
HNRNPLL	chr2	38561978	38603586	-	ENSG00000143889.15	protein_coding	HNRPLL|SRRF	2p22.1	heterogeneous nuclear ribonucleoprotein L like	HNRNPLL is a master regulator of activation-induced alternative splicing in T cells. In particular, it alters splicing of CD45 (PTPRC; MIM 151460), a tyrosine phosphatase essential for T-cell development and activation (Oberdoerffer et al., 2008 [PubMed 18669861]).[supplied by OMIM, Aug 2008]
HNRNPLP1	chr6	7481094	7482594	-	ENSG00000233503.1	processed_pseudogene	-	6p24.3	heterogeneous nuclear ribonucleoprotein L pseudogene 1	-
HNRNPM	chr19	8444767	8489114	+	ENSG00000099783.11	protein_coding	CEAR|HNRNPM4|HNRPM|HNRPM4|HTGR1|NAGR1|hnRNP M	19p13.2	heterogeneous nuclear ribonucleoprotein M	This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that bind to RNAs. This protein also constitutes a monomer of the N-acetylglucosamine-specific receptor which is postulated to trigger selective recycling of immature GlcNAc-bearing thyroglobulin molecules. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
HNRNPR	chr1	23303771	23344336	-	ENSG00000125944.18	protein_coding	HNRPR|hnRNP-R	1p36.12	heterogeneous nuclear ribonucleoprotein R	This gene encodes an RNA-binding protein that is a member of the spliceosome C complex, which functions in pre-mRNA processing and transport. The encoded protein also promotes transcription at the c-fos gene. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes 4, 11, and 10. [provided by RefSeq, Jul 2014]
HNRNPUL1	chr19	41262496	41307598	+	ENSG00000105323.16	protein_coding	E1B-AP5|E1BAP5|HNRPUL1	19q13.2	heterogeneous nuclear ribonucleoprotein U like 1	This gene encodes a nuclear RNA-binding protein of the heterogeneous nuclear ribonucleoprotein (hnRNP) family. This protein binds specifically to adenovirus early-1B-55kDa oncoprotein. It may play an important role in nucleocytoplasmic RNA transport, and its function is modulated by early-1B-55kDa in adenovirus-infected cells. [provided by RefSeq, Mar 2016]
HNRNPUL2	chr11	62712630	62727349	-	ENSG00000214753.2	protein_coding	HNRPUL2|SAF-A2	11q12.3	heterogeneous nuclear ribonucleoprotein U like 2	Ubiquitous expression in brain (RPKM 35.1), colon (RPKM 29.9) and 25 other tissues
HOGA1	chr10	97584323	97612802	+	ENSG00000241935.8	protein_coding	C10orf65|DHDPS2|DHDPSL|HP3|NPL2	10q24.2	4-hydroxy-2-oxoglutarate aldolase 1	The authors of PMID:20797690 cloned this gene while searching for genes in a region of chromosome 10 linked to primary hyperoxalurea type III. They noted that even though the encoded protein has been described as a mitochondrial dihydrodipicolinate synthase-like enzyme, it shares little homology with E. coli dihydrodipicolinate synthase (Dhdps), particularly in the putative substrate-binding region. Moreover, neither lysine biosynthesis nor sialic acid metabolism, for which Dhdps is responsible, occurs in vertebrate mitochondria. They propose that this gene encodes mitochondrial 4-hydroxyl-2-oxoglutarate aldolase (EC 4.1.3.16), which catalyzes the final step in the metabolic pathway of hydroxyproline, releasing glyoxylate and pyruvate. This gene is predominantly expressed in the liver and kidney, and mutations in this gene are found in patients with primary hyperoxalurea type III. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Nov 2010]
HOMER1	chr5	79372636	79514217	-	ENSG00000152413.14	protein_coding	HOMER|HOMER1A|HOMER1B|HOMER1C|SYN47|Ves-1	5q14.1	homer scaffold protein 1	This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. [provided by RefSeq, Jul 2008]
HOMER2	chr15	82836946	82986153	-	ENSG00000103942.12	protein_coding	ACPD|CPD|DFNA68|HOMER-2|VESL-2	15q25.2	homer scaffold protein 2	This gene encodes a member of the homer family of dendritic proteins. Members of this family regulate group 1 metabotrophic glutamate receptor function. The encoded protein is a postsynaptic density scaffolding protein. Alternative splicing results in multiple transcript variants. Two related pseudogenes have been identified on chromosome 14. [provided by RefSeq, Jun 2011]
HOMER3	chr19	18929201	18941261	-	ENSG00000051128.18	protein_coding	HOMER-3|VESL3	19p13.11	homer scaffold protein 3	This gene encodes a member of the HOMER family of postsynaptic density scaffolding proteins that share a similar domain structure consisting of an N-terminal Enabled/vasodilator-stimulated phosphoprotein homology 1 domain which mediates protein-protein interactions, and a carboxy-terminal coiled-coil domain and two leucine zipper motifs that are involved in self-oligomerization. The encoded protein binds numerous other proteins including group I metabotropic glutamate receptors, inositol 1,4,5-trisphosphate receptors and amyloid precursor proteins and has been implicated in diverse biological functions such as neuronal signaling, T-cell activation and trafficking of amyloid beta peptides. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
HOMEZ	chr14	23272422	23299447	-	ENSG00000215271.7	protein_coding	KIAA1443	14q11.2	homeobox and leucine zipper encoding	Broad expression in testis (RPKM 9.5), urinary bladder (RPKM 4.3) and 24 other tissues
HOOK2	chr19	12763003	12872740	-	ENSG00000095066.11	protein_coding	HK2	19p13.13	hook microtubule tethering protein 2	Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004]
HOPX	chr4	56647988	56681899	-	ENSG00000171476.21	protein_coding	CAMEO|HOD|HOP|LAGY|NECC1|OB1|SMAP31|TOTO	4q12	HOP homeobox	The protein encoded by this gene is a homeodomain protein that lacks certain conserved residues required for DNA binding. It was reported that choriocarcinoma cell lines and tissues failed to express this gene, which suggested the possible involvement of this gene in malignant conversion of placental trophoblasts. Studies in mice suggest that this protein may interact with serum response factor (SRF) and modulate SRF-dependent cardiac-specific gene expression and cardiac development. Multiple alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Feb 2009]
HORMAD1	chr1	150698060	150720888	-	ENSG00000143452.15	protein_coding	CT46|NOHMA	1q21.3	HORMA domain containing 1	This gene encodes a HORMA domain-containing protein. HORMA domains are involved in chromatin binding and play a role in cell cycle regulation. The encoded protein may play a role in meiosis, and expression of this gene is a potential marker for cancer. A pseudogene of this gene is located on the long arm of chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
HORMAD2	chr22	30080174	30177075	+	ENSG00000176635.17	protein_coding	CT46.2	22q12.2	HORMA domain containing 2	Restricted expression toward testis (RPKM 6.8)
HORMAD2-AS1	chr22	30008742	30080480	-	ENSG00000227117.6	antisense	MTMR3-AS1	22q12.2	HORMAD2 and MTMR3 antisense RNA 1	Ubiquitous expression in liver (RPKM 3.9), testis (RPKM 3.7) and 25 other tissues
HOTAIR	chr12	53962308	53974956	-	ENSG00000228630.5	antisense	HOXAS|HOXC-AS4|HOXC11-AS1|NCRNA00072	12q13.13	HOX transcript antisense RNA	This gene is located within the Homeobox C (HOXC) gene cluster on chromosome 12 and is co-expressed with the HOXC genes. It functions through an RNA product, which binds lysine specific demethylase 1 (LSD1) and Polycomb repressive complex 2 (PRC2), and serves as a scaffold to assemble these regulators at the HOXD gene cluster, thereby promoting epigenetic repression of HOXD. This gene is highly expressed in multiple tumors. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Feb 2019]
HOTAIRM1	chr7	27095647	27100265	+	ENSG00000233429.9	antisense	HOXA-AS1|HOXA1-AS1|NCRNA00179	7p15.2	HOXA transcript antisense RNA, myeloid-specific 1	This non-coding locus is located in the HOX gene cluster. Transcription of this locus is induced by retinoic acid, and transcripts likely function in regulation of myelopoiesis through transcriptional activation of several genes in the HOXA cluster, in addition to several beta-2 integrins. [provided by RefSeq, Jan 2013]
HOTTIP	chr7	27198575	27207259	+	ENSG00000243766.7	antisense	HOXA-AS6|HOXA13-AS1|NCRNA00213	7p15.2	HOXA distal transcript antisense RNA	This gene produces a long RNA in antisense to the HOXA gene cluster. This transcript may regulate expression of HOXA genes in cis. This gene is upregulated in tumors and is implicated in the promotion of cell proliferation. [provided by RefSeq, Dec 2017]
HOXA-AS2	chr7	27107777	27134302	+	ENSG00000253552.7	antisense	HOXA3as	7p15.2	HOXA cluster antisense RNA 2	This gene produces a long non-coding RNA that promotes cell proliferation. This transcript may interact with enhancer of zeste homolog 2 Polycomb repressive complex to repress gene expression. [provided by RefSeq, Dec 2017]
HOXA1	chr7	27092993	27095996	-	ENSG00000105991.7	protein_coding	BSAS|HOX1|HOX1F	7p15.2	homeobox A1	In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region. [provided by RefSeq, Jul 2008]
HOXA10	chr7	27170591	27180261	-	ENSG00000253293.4	protein_coding	HOX1|HOX1.8|HOX1H|PL	7p15.2	homeobox A10	In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor that may regulate gene expression, morphogenesis, and differentiation. More specifically, it may function in fertility, embryo viability, and regulation of hematopoietic lineage commitment. Alternatively spliced transcript variants have been described. Read-through transcription also exists between this gene and the downstream homeobox A9 (HOXA9) gene. [provided by RefSeq, Mar 2011]
HOXA10-AS	chr7	27168619	27171915	+	ENSG00000253187.2	antisense	HOXA-AS4	7p15.2	HOXA10 antisense RNA	Biased expression in endometrium (RPKM 40.3), prostate (RPKM 15.7) and 8 other tissues
HOXA11	chr7	27181510	27185223	-	ENSG00000005073.5	protein_coding	HOX1|HOX1I|RUSAT1	7p15.2	homeobox A11	In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [provided by RefSeq, Jul 2008]
HOXA11-AS	chr7	27184518	27189293	+	ENSG00000240990.9	antisense	HOXA-AS5|HOXA11-AS1|HOXA11AS|HOXA11S|NCRNA00076	7p15.2	HOXA11 antisense RNA	This gene produces a long non-coding RNA in antisense to transcription of the homeobox A11 gene. This transcript may associate with chromatin factors such as Polycomb repressive complex and act as a sponge for microRNAs, thereby participating in the regulation of expression of target genes. High levels of this transcript may be associated with tumor progression. [provided by RefSeq, Dec 2017]
HOXA13	chr7	27193503	27200106	-	ENSG00000106031.7	protein_coding	HOX1|HOX1J	7p15.2	homeobox A13	In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Expansion of a polyalanine tract in the encoded protein can cause hand-foot-uterus syndrome, also known as hand-foot-genital syndrome. [provided by RefSeq, Jul 2008]
HOXA2	chr7	27100354	27102811	-	ENSG00000105996.6	protein_coding	HOX1K|MCOHI	7p15.2	homeobox A2	In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. [provided by RefSeq, Jul 2008]
HOXA3	chr7	27106184	27152581	-	ENSG00000105997.22	protein_coding	HOX1|HOX1E	7p15.2	homeobox A3	In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
HOXA4	chr7	27128507	27130799	-	ENSG00000197576.13	protein_coding	HOX1|HOX1D	7p15.2	homeobox A4	In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. [provided by RefSeq, Jul 2008]
HOXA5	chr7	27141052	27143668	-	ENSG00000106004.4	protein_coding	HOX1|HOX1.3|HOX1C	7p15.2	homeobox A5	In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Methylation of this gene may result in the loss of its expression and, since the encoded protein upregulates the tumor suppressor p53, this protein may play an important role in tumorigenesis. [provided by RefSeq, Jul 2008]
HOXA6	chr7	27145396	27150603	-	ENSG00000106006.6	protein_coding	HOX1|HOX1.2|HOX1B	7p15.2	homeobox A6	In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. [provided by RefSeq, Jul 2008]
HOXA7	chr7	27153716	27157936	-	ENSG00000122592.7	protein_coding	ANTP|HOX1|HOX1.1|HOX1A	7p15.2	homeobox A7	In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. For example, the encoded protein represses the transcription of differentiation-specific genes during keratinocyte proliferation, but this repression is then overcome by differentiation signals. This gene is highly similar to the antennapedia (Antp) gene of Drosophila. [provided by RefSeq, Jul 2008]
HOXA9	chr7	27162435	27175180	-	ENSG00000078399.17	protein_coding	ABD-B|HOX1|HOX1.7|HOX1G	7p15.2	homeobox A9	In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is highly similar to the abdominal-B (Abd-B) gene of Drosophila. A specific translocation event which causes a fusion between this gene and the NUP98 gene has been associated with myeloid leukemogenesis. Read-through transcription exists between this gene and the upstream homeobox A10 (HOXA10) gene.[provided by RefSeq, Mar 2011]
HOXB-AS1	chr17	48543551	48551250	+	ENSG00000230148.8	antisense	HOXB3OS	17q21.32	HOXB cluster antisense RNA 1	Broad expression in fat (RPKM 17.1), colon (RPKM 6.0) and 20 other tissues
HOXB-AS2	chr17	48557262	48560333	+	ENSG00000239552.2	antisense	-	17q21.32	HOXB cluster antisense RNA 2	-
HOXB-AS3	chr17	48549630	48606414	+	ENSG00000233101.10	antisense	-	17q21.32	HOXB cluster antisense RNA 3	-
HOXB-AS4	chr17	48628675	48634932	+	ENSG00000242207.1	antisense	-	17q21.32	HOXB cluster antisense RNA 4	-
HOXB1	chr17	48528526	48530997	-	ENSG00000120094.6	protein_coding	HCFP3|HOX2|HOX2I|Hox-2.9	17q21.32	homeobox B1	This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXB genes located in a cluster on chromosome 17. [provided by RefSeq, Jul 2008]
HOXB13	chr17	48724763	48729178	-	ENSG00000159184.7	protein_coding	HPC9|PSGD	17q21.32	homeobox B13	This gene encodes a transcription factor that belongs to the homeobox gene family. Genes of this family are highly conserved among vertebrates and essential for vertebrate embryonic development. This gene has been implicated to play a role in fetal skin development and cutaneous regeneration. In mice, a similar gene was shown to exhibit temporal and spatial colinearity in the main body axis of the embryo, but was not expressed in the secondary axes, which suggests functions in body patterning along the axis. This gene and other HOXB genes form a gene cluster at chromosome the 17q21-22 region. [provided by RefSeq, Jul 2008]
HOXB2	chr17	48540894	48544989	-	ENSG00000173917.10	protein_coding	HOX2|HOX2H|Hox-2.8|K8	17q21.32	homeobox B2	This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with pancreatic cancer. [provided by RefSeq, Jul 2008]
HOXB3	chr17	48548870	48604912	-	ENSG00000120093.11	protein_coding	HOX2|HOX2G|Hox-2.7	17q21.32	homeobox B3	This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML). [provided by RefSeq, Jul 2008]
HOXB4	chr17	48575513	48580111	-	ENSG00000182742.5	protein_coding	HOX-2.6|HOX2|HOX2F	17q21.32	homeobox B4	This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Intracellular or ectopic expression of this protein expands hematopoietic stem and progenitor cells in vivo and in vitro, making it a potential candidate for therapeutic stem cell expansion. [provided by RefSeq, Jul 2008]
HOXB5	chr17	48591257	48593961	-	ENSG00000120075.5	protein_coding	HHO.C10|HOX2|HOX2A|HU-1|Hox2.1	17q21.32	homeobox B5	This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in lung and gut development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML) and the occurrence of bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) tissue. [provided by RefSeq, Jul 2008]
HOXB6	chr17	48595751	48604992	-	ENSG00000108511.9	protein_coding	HOX2|HOX2B|HU-2|Hox-2.2	17q21.32	homeobox B6	This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development, including that of lung and skin, and has been localized to both the nucleus and cytoplasm. Altered expression of this gene or a change in the subcellular localization of its protein is associated with some cases of acute myeloid leukemia and colorectal cancer. [provided by RefSeq, Jul 2008]
HOXB7	chr17	48607227	48633572	-	ENSG00000260027.4	protein_coding	HHO.C1|HOX2|HOX2C|Hox-2.3	17q21.32	homeobox B7	This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of melanoma and ovarian carcinoma. [provided by RefSeq, Jul 2008]
HOXB8	chr17	48611377	48614939	-	ENSG00000120068.6	protein_coding	HOX2|HOX2D|Hox-2.4	17q21.32	homeobox B8	This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with colorectal cancer. Mice that have had the murine ortholog of this gene knocked out exhibit an excessive pathologic grooming behavior. This behavior is similar to the behavior of humans suffering from the obsessive-compulsive spectrum disorder trichotillomania. [provided by RefSeq, Jul 2008]
HOXB9	chr17	48621159	48626356	-	ENSG00000170689.9	protein_coding	HOX-2.5|HOX2|HOX2E	17q21.32	homeobox B9	This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded nuclear protein functions as a sequence-specific transcription factor that is involved in cell proliferation and differentiation. Increased expression of this gene is associated with some cases of leukemia, prostate cancer and lung cancer. [provided by RefSeq, Jul 2008]
HOXC-AS1	chr12	53999022	54000010	-	ENSG00000250451.5	antisense	-	12q13.13	HOXC cluster antisense RNA 1	-
HOXC-AS3	chr12	53981509	53985519	-	ENSG00000251151.2	processed_transcript	-	12q13.13	HOXC cluster antisense RNA 3	-
HOXC10	chr12	53985065	53990279	+	ENSG00000180818.4	protein_coding	HOX3I	12q13.13	homeobox C10	This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The protein level is controlled during cell differentiation and proliferation, which may indicate this protein has a role in origin activation. [provided by RefSeq, Jul 2008]
HOXC12	chr12	53954834	53958956	+	ENSG00000123407.3	protein_coding	HOC3F|HOX3|HOX3F	12q13.13	homeobox C12	This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. [provided by RefSeq, Jul 2008]
HOXC13-AS	chr12	53935328	53939643	-	ENSG00000249641.2	antisense	HOXC-AS5	12q13.13	HOXC13 antisense RNA	Biased expression in skin (RPKM 2.1), placenta (RPKM 0.1) and 1 other tissue
HOXC4	chr12	54016931	54056030	+	ENSG00000198353.7	protein_coding	HOX3|HOX3E|cp19	12q13.13	homeobox C4	This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC4, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5 non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants that encode the same protein have been described for HOXC4. Transcript variant one includes the shared exon, and transcript variant two includes only gene-specific exons. [provided by RefSeq, Jul 2008]
HOXC5	chr12	54032853	54035358	+	ENSG00000172789.3	protein_coding	CP11|HOX3|HOX3D	12q13.13	homeobox C5	This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC5, is one of several homeobox HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5 non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Two alternatively spliced variants have been described for HOXC5. The transcript variant which includes the shared exon apparently doesnt encode a protein. The protein-coding transcript variant contains gene-specific exons only. [provided by RefSeq, Jul 2008]
HOXC6	chr12	53990624	54030823	+	ENSG00000197757.7	protein_coding	CP25|HHO.C8|HOX3|HOX3C	12q13.13	homeobox C6	This gene belongs to the homeobox family, members of which encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene, HOXC6, is one of several HOXC genes located in a cluster on chromosome 12. Three genes, HOXC5, HOXC4 and HOXC6, share a 5 non-coding exon. Transcripts may include the shared exon spliced to the gene-specific exons, or they may include only the gene-specific exons. Alternatively spliced transcript variants encoding different isoforms have been identified for HOXC6. Transcript variant two includes the shared exon, and transcript variant one includes only gene-specific exons. [provided by RefSeq, Jul 2008]
HOXC8	chr12	54009106	54012362	+	ENSG00000037965.5	protein_coding	HOX3|HOX3A	12q13.13	homeobox C8	This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the regulation of cartilage differentiation. It could also be involved in chondrodysplasias or other cartilage disorders. [provided by RefSeq, Jul 2008]
HOXC9	chr12	53994895	54003337	+	ENSG00000180806.4	protein_coding	HOX3|HOX3B	12q13.13	homeobox C9	This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. [provided by RefSeq, Jul 2008]
HOXD-AS2	chr2	176121611	176137098	-	ENSG00000237380.6	antisense	-	2q31.1	HOXD cluster antisense RNA 2	-
HOXD1	chr2	176188579	176190907	+	ENSG00000128645.14	protein_coding	HOX4|HOX4G|Hox-4.7	2q31.1	homeobox D1	This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. This nuclear protein functions as a sequence-specific transcription factor that is involved in differentiation and limb development. Mutations in this gene have been associated with severe developmental defects on the anterior-posterior (a-p) limb axis. [provided by RefSeq, Jul 2008]
HOXD10	chr2	176108790	176119942	+	ENSG00000128710.5	protein_coding	HOX4|HOX4D|HOX4E|Hox-4.4	2q31.1	homeobox D10	This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilms tumor and congenital vertical talus (also known as rocker-bottom foot deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]
HOXD11	chr2	176104216	176109754	+	ENSG00000128713.13	protein_coding	HOX4|HOX4F	2q31.1	homeobox D11	This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5 end of this cluster have been associated with severe limb and genital abnormalities. The product of the mouse Hoxd11 gene plays a role in forelimb morphogenesis. [provided by RefSeq, Jul 2008]
HOXD13	chr2	176092891	176095938	+	ENSG00000128714.5	protein_coding	BDE|BDSD|HOX4I|SPD|SPD1	2q31.1	homeobox D13	This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5 end of this cluster have been associated with severe limb and genital abnormalities. Mutations in this particular gene cause synpolydactyly. [provided by RefSeq, Jul 2008]
HOXD3	chr2	176136612	176173102	+	ENSG00000128652.11	protein_coding	HOX1D|HOX4|HOX4A|Hox-4.1	2q31.1	homeobox D3	This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5 end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in the regulation of cell adhesion processes. [provided by RefSeq, Jul 2008]
HOXD4	chr2	176151222	176153226	+	ENSG00000170166.5	protein_coding	HHO.C13|HOX-5.1|HOX4|HOX4B|Hox-4.2	2q31.1	homeobox D4	This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5 end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in determining positional values in developing limb buds. Alternatively spliced variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
HOXD8	chr2	176129694	176132695	+	ENSG00000175879.8	protein_coding	HOX4|HOX4E|HOX5.4	2q31.1	homeobox D8	This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5 end of this cluster have been associated with severe limb and genital abnormalities. In addition to effects during embryogenesis, this particular gene may also play a role in adult urogenital tract function. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]
HOXD9	chr2	176122720	176124937	+	ENSG00000128709.12	protein_coding	HOX4|HOX4C|Hox-4.3|Hox-5.2	2q31.1	homeobox D9	This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5 end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]
HP	chr16	72054592	72061055	+	ENSG00000257017.8	protein_coding	BP|HP2ALPHA2|HPA1S	16q22.2	haptoglobin	This gene encodes a preproprotein, which is processed to yield both alpha and beta chains, which subsequently combine as a tetramer to produce haptoglobin. Haptoglobin functions to bind free plasma hemoglobin, which allows degradative enzymes to gain access to the hemoglobin, while at the same time preventing loss of iron through the kidneys and protecting the kidneys from damage by hemoglobin. Mutations in this gene and/or its regulatory regions cause ahaptoglobinemia or hypohaptoglobinemia. This gene has also been linked to diabetic nephropathy, the incidence of coronary artery disease in type 1 diabetes, Crohns disease, inflammatory disease behavior, primary sclerosing cholangitis, susceptibility to idiopathic Parkinsons disease, and a reduced incidence of Plasmodium falciparum malaria. The protein encoded also exhibits antimicrobial activity against bacteria. A similar duplicated gene is located next to this gene on chromosome 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]
HP1BP3	chr1	20742661	20787323	-	ENSG00000127483.17	protein_coding	HP1-BP74|HP1BP74	1p36.12	heterochromatin protein 1 binding protein 3	Ubiquitous expression in thyroid (RPKM 36.6), endometrium (RPKM 35.9) and 25 other tissues
HPCA	chr1	32885994	32898441	+	ENSG00000121905.9	protein_coding	BDR2|DYT2	1p35.1	hippocalcin	The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. This protein is associated with the plasma membrane. It has similarities to proteins located in the photoreceptor cells that regulate photosignal transduction in a calcium-sensitive manner. This protein displays recoverin activity and a calcium-dependent inhibition of rhodopsin kinase. It is identical to the rat and mouse hippocalcin proteins and thought to play an important role in neurons of the central nervous system in a number of species. [provided by RefSeq, Jul 2008]
HPCAL1	chr2	10302889	10427617	+	ENSG00000115756.12	protein_coding	BDR1|HLP2|VILIP-3	2p25.1	hippocalcin like 1	The protein encoded by this gene is a member of neuron-specific calcium-binding proteins family found in the retina and brain. It is highly similar to human hippocalcin protein and nearly identical to the rat and mouse hippocalcin like-1 proteins. It may be involved in the calcium-dependent regulation of rhodopsin phosphorylation and may be of relevance for neuronal signalling in the central nervous system. Several alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2012]
HPCAL4	chr1	39678648	39691689	-	ENSG00000116983.12	protein_coding	HLP4	1p34.2	hippocalcin like 4	The protein encoded by this gene is highly similar to human hippocalcin protein and hippocalcin like-1 protein. It also has similarity to rat neural visinin-like Ca2+-binding protein-type 1 and 2 proteins. This encoded protein may be involved in the calcium-dependent regulation of rhodopsin phosphorylation. The transcript of this gene has multiple polyadenylation sites. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
HPD	chr12	121839527	121863596	-	ENSG00000158104.11	protein_coding	4-HPPD|4HPPD|GLOD3|HPPDASE|PPD	12q24.31	4-hydroxyphenylpyruvate dioxygenase	The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
HPDL	chr1	45326905	45328533	+	ENSG00000186603.5	protein_coding	4-HPPD-L|GLOXD1|NEDSWMA|SPG83	1p34.1	4-hydroxyphenylpyruvate dioxygenase like	The protein encoded by this intronless gene localizes to mitochondria, where it may function as 4-hydroxyphenylpyruvate dioxygenase. Clinical studies have identified several bi-allelic variants in this gene that lower the level of the encoded protein and lead to a clinically variable form of pediatric-onset spastic movement disorder. [provided by RefSeq, Aug 2020]
HPN	chr19	35040506	35066571	+	ENSG00000105707.13	protein_coding	TMPRSS1	19q13.11	hepsin	This gene encodes a type II transmembrane serine protease that may be involved in diverse cellular functions, including blood coagulation and the maintenance of cell morphology. Expression of the encoded protein is associated with the growth and progression of cancers, particularly prostate cancer. The protein is cleaved into a catalytic serine protease chain and a non-catalytic scavenger receptor cysteine-rich chain, which associate via a single disulfide bond. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
HPR	chr16	72063224	72077246	+	ENSG00000261701.6	protein_coding	A-259H10.2|HP	16q22.2	haptoglobin-related protein	This gene encodes a haptoglobin-related protein that binds hemoglobin as efficiently as haptoglobin. Unlike haptoglobin, plasma concentration of this protein is unaffected in patients with sickle cell anemia and extensive intravascular hemolysis, suggesting a difference in binding between haptoglobin-hemoglobin and haptoglobin-related protein-hemoglobin complexes to CD163, the hemoglobin scavenger receptor. This protein may also be a clinically important predictor of recurrence of breast cancer. [provided by RefSeq, Oct 2011]
HPS1	chr10	98416198	98446947	-	ENSG00000107521.18	protein_coding	BLOC3S1|HPS	10q24.2	HPS1 biogenesis of lysosomal organelles complex 3 subunit 1	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]
HPS4	chr22	26443423	26483837	-	ENSG00000100099.20	protein_coding	BLOC3S2|LE	22q12.1	HPS4 biogenesis of lysosomal organelles complex 3 subunit 2	This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
HPS5	chr11	18278668	18322198	-	ENSG00000110756.17	protein_coding	AIBP63|BLOC2S2	11p15.1	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2	This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 6 protein and may interact with the cytoplasmic domain of integrin, alpha-3. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 5. Multiple transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
HPS6	chr10	102065390	102068038	+	ENSG00000166189.7	protein_coding	BLOC2S3	10q24.32	HPS6 biogenesis of lysosomal organelles complex 2 subunit 3	This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]
HPSE	chr4	83292461	83335153	-	ENSG00000173083.14	protein_coding	HPA|HPA1|HPR1|HPSE1|HSE1	4q21.23	heparanase	Heparan sulfate proteoglycans are major components of the basement membrane and extracellular matrix. The protein encoded by this gene is an enzyme that cleaves heparan sulfate proteoglycans to permit cell movement through remodeling of the extracellular matrix. In addition, this cleavage can release bioactive molecules from the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
HPSE2	chr10	98457077	99235862	-	ENSG00000172987.12	protein_coding	HPA2|HPR2|UFS|UFS1	10q24.2	heparanase 2 (inactive)	This gene encodes a heparanase enzyme. The encoded protein is a endoglycosidase that degrades heparin sulfate proteoglycans located on the extracellular matrix and cell surface. This protein may be involved in biological processes involving remodeling of the extracellular matrix including angiogenesis and tumor progression. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
HR	chr8	22114415	22133384	-	ENSG00000168453.14	protein_coding	ALUNC|AU|HSA277165|HYPT4|MUHH|MUHH1	8p21.3	HR lysine demethylase and nuclear receptor corepressor	This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory open reading frame (ORF) that exists upstream of the primary ORF. Mutations in this upstream ORF cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, other diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]
HRAS	chr11	532242	537287	-	ENSG00000174775.16	protein_coding	C-BAS/HAS|C-H-RAS|C-HA-RAS1|CTLO|H-RASIDX|HAMSV|HRAS1|RASH1|p21ras	11p15.5	HRas proto-oncogene, GTPase	This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, cognitive disability, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008]
HRC	chr19	49151198	49155424	-	ENSG00000130528.11	protein_coding	-	19q13.33	histidine rich calcium binding protein	Restricted expression toward heart (RPKM 206.9)
HRCT1	chr9	35906192	35907141	+	ENSG00000196196.2	protein_coding	LGLL338|PRO537|UNQ338	9p13.3	histidine rich carboxyl terminus 1	-
HRH1	chr3	11137093	11263557	+	ENSG00000196639.6	protein_coding	H1-R|H1R|HH1R|hisH1	3p25.3	histamine receptor H1	Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. The protein encoded by this gene is an integral membrane protein and belongs to the G protein-coupled receptor superfamily. It mediates the contraction of smooth muscles, the increase in capillary permeability due to contraction of terminal venules, the release of catecholamine from adrenal medulla, and neurotransmission in the central nervous system. It has been associated with multiple processes, including memory and learning, circadian rhythm, and thermoregulation. It is also known to contribute to the pathophysiology of allergic diseases such as atopic dermatitis, asthma, anaphylaxis and allergic rhinitis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2015]
HRH4	chr18	24460629	24479957	+	ENSG00000134489.6	protein_coding	AXOR35|BG26|GPCR105|GPRv53|H4|H4R|HH4R	18q11.2	histamine receptor H4	Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by a family of histamine receptors, which are a subset of the G-protein coupled receptor superfamily. This gene encodes a histamine receptor that is predominantly expressed in haematopoietic cells. The protein is thought to play a role in inflammation and allergy reponses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
HRK	chr12	116856144	116881441	-	ENSG00000135116.9	protein_coding	DP5|HARAKIRI	12q24.22	harakiri, BCL2 interacting protein	This gene encodes a member of the BCL-2 protein family. Members of this family are involved in activating or inhibiting apoptosis. The encoded protein localizes to intracellular membranes. This protein promotes apoptosis by interacting with the apoptotic inhibitors BCL-2 and BCL-X(L) via its BH3 domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
HRNR	chr1	152212082	152224193	-	ENSG00000197915.5	protein_coding	FLG3|S100A16|S100a18	1q21.3	hornerin	Low expression observed in reference dataset
HROB	chr17	 44141930	44162476	+	ENSG00000125319	protein-coding	C17orf53|MCM8IP	17q21.31	homologous recombination factor with OB-fold	Broad expression in testis (RPKM 4.5), bone marrow (RPKM 2.8) and 14 other tissues
HS1BP3	chr2	20560448	20651089	-	ENSG00000118960.12	protein_coding	ETM2|HS1-BP3	2p24.1	HCLS1 binding protein 3	The protein encoded by this gene shares similarity with mouse Hs1bp3, an Hcls1/Hs1-interacting protein that may be involved in lymphocyte activation. [provided by RefSeq, Jul 2008]
HS1BP3-IT1	chr2	20590775	20592548	-	ENSG00000231948.2	sense_intronic	-	2p24.1	HS1BP3 intronic transcript 1	-
HS2ST1	chr1	86914648	87109998	+	ENSG00000153936.16	protein_coding	NFSRA|dJ604K5.2	1p22.3	heparan sulfate 2-O-sulfotransferase 1	Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Aug 2008]
HS3ST1	chr4	11393150	11429765	-	ENSG00000002587.9	protein_coding	3OST|3OST1	4p15.33	heparan sulfate-glucosamine 3-sulfotransferase 1	Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It possesses both heparan sulfate glucosaminyl 3-O-sulfotransferase activity, anticoagulant heparan sulfate conversion activity, and is a rate limiting enzyme for synthesis of anticoagulant heparan. This enzyme is an intraluminal Golgi resident protein. [provided by RefSeq, Jul 2008]
HS3ST4	chr16	25692026	26137688	+	ENSG00000182601.6	protein_coding	3-OST-4|30ST4|3OST4|h3-OST-4	16p12.1	heparan sulfate-glucosamine 3-sulfotransferase 4	This gene encodes the enzyme heparan sulfate D-glucosaminyl 3-O-sulfotransferase 4. This enzyme generates 3-O-sulfated glucosaminyl residues in heparan sulfate. Cell surface heparan sulfate is used as a receptor by herpes simplex virus type 1 (HSV-1), and expression of this gene is thought to play a role in HSV-1 pathogenesis. [provided by RefSeq, Jul 2008]
HS3ST6	chr16	1911463	1918440	-	ENSG00000162040.6	protein_coding	3-OST-6|3OST6|HAE8|HS3ST5	16p13.3	heparan sulfate-glucosamine 3-sulfotransferase 6	Biased expression in skin (RPKM 2.3), placenta (RPKM 0.2) and 1 other tissue
HS6ST1	chr2	128236716	128318577	-	ENSG00000136720.6	protein_coding	HH15|HS6ST	2q14.3	heparan sulfate 6-O-sulfotransferase 1	The protein encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biological activities. This enzyme is a type II integral membrane protein and is responsible for 6-O-sulfation of heparan sulfate. This enzyme does not share significant sequence similarity with other known sulfotransferases. A pseudogene located on chromosome 1 has been found for this gene. [provided by RefSeq, Jul 2008]
HS6ST3	chr13	96090839	96839562	+	ENSG00000185352.8	protein_coding	HS6ST-3	13q32.1	heparan sulfate 6-O-sulfotransferase 3	Heparan sulfate (HS) sulfotransferases, such as HS6ST3, modify HS to generate structures required for interactions between HS and a variety of proteins. These interactions are implicated in proliferation and differentiation, adhesion, migration, inflammation, blood coagulation, and other diverse processes (Habuchi et al., 2000 [PubMed 10644753]).[supplied by OMIM, Mar 2008]
HSBP1L1	chr18	79964561	79970822	+	ENSG00000226742.3	protein_coding	-	18q23	heat shock factor binding protein 1 like 1	-
HSCB	chr22	28742031	28757515	+	ENSG00000100209.9	protein_coding	DNAJC20|HSC20|JAC1|SIDBA5	22q12.1	HscB mitochondrial iron-sulfur cluster cochaperone	This gene encodes a DnaJ-type co-chaperone and member of the heat shock cognate B (HscB) family of proteins. The encoded protein plays a role in the synthesis of iron-sulfur clusters, protein cofactors that are involved in the redox reactions of mitochondrial electron transport and other processes. Cells in which this gene is knocked down exhibit reduced activity of iron-sulfur cluster-dependent enzymes including succinate dehydrogenase and aconitase. The encoded protein may stimulate the ATPase activity of the mitochondrial stress-70 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
HSD11B1	chr1	209686178	209734950	+	ENSG00000117594.9	protein_coding	11-DH|11-beta-HSD1|CORTRD2|HDL|HSD11|HSD11B|HSD11L|SDR26C1	1q32.2	hydroxysteroid 11-beta dehydrogenase 1	The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze the reverse reaction, the conversion of cortisone to cortisol. Too much cortisol can lead to central obesity, and a particular variation in this gene has been associated with obesity and insulin resistance in children. Mutations in this gene and H6PD (hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)) are the cause of cortisone reductase deficiency. Alternate splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2011]
HSD11B1L	chr19	5680604	5688523	+	ENSG00000167733.13	protein_coding	11-DH3|11-beta-HSD3|HSD1L|HSD3|SCDR10|SCDR10B|SDR26C2	19p13.3	hydroxysteroid 11-beta dehydrogenase 1 like	This gene is a member of the hydroxysteroid dehydrogenase family. The encoded protein is similar to an enzyme that catalyzes the interconversion of inactive to active glucocorticoids (e.g. cortisone). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]
HSD11B2	chr16	67430652	67437553	+	ENSG00000176387.6	protein_coding	AME|AME1|HSD11K|HSD2|SDR9C3	16q22.1	hydroxysteroid 11-beta dehydrogenase 2	There are at least two isozymes of the corticosteroid 11-beta-dehydrogenase, a microsomal enzyme complex responsible for the interconversion of cortisol and cortisone. The type I isozyme has both 11-beta-dehydrogenase (cortisol to cortisone) and 11-oxoreductase (cortisone to cortisol) activities. The type II isozyme, encoded by this gene, has only 11-beta-dehydrogenase activity. In aldosterone-selective epithelial tissues such as the kidney, the type II isozyme catalyzes the glucocorticoid cortisol to the inactive metabolite cortisone, thus preventing illicit activation of the mineralocorticoid receptor. In tissues that do not express the mineralocorticoid receptor, such as the placenta and testis, it protects cells from the growth-inhibiting and/or pro-apoptotic effects of cortisol, particularly during embryonic development. Mutations in this gene cause the syndrome of apparent mineralocorticoid excess and hypertension. [provided by RefSeq, Feb 2010]
HSD17B1	chr17	42549214	42555213	+	ENSG00000108786.10	protein_coding	17-beta-HSD|20-alpha-HSD|E2DH|EDH17B2|EDHB17|HSD17|SDR28C1	17q21.2	hydroxysteroid 17-beta dehydrogenase 1	This gene encodes a member of the 17beta-hydroxysteroid dehydrogenase family of short-chain dehydrogenases/reductases. It has a dual function in estrogen activation and androgen inactivation and plays a major role in establishing the estrogen E2 concentration gradient between serum and peripheral tissues. The encoded protein catalyzes the last step in estrogen activation, using NADPH to convert estrogens E1 and E2 and androgens like 4-androstenedione, to testosterone. It has an N-terminal short-chain dehydrogenase domain with a cofactor binding site, and a narrow, hydrophobic C-terminal domain with a steroid substrate binding site. This gene is expressed primarily in the placenta and ovarian granulosa cells, and to a lesser extent, in the endometrium, adipose tissue, and prostate. Polymorphisms in this gene have been linked to breast and prostate cancer. A pseudogene of this gene has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
HSD17B11	chr4	87336610	87391386	-	ENSG00000198189.10	protein_coding	17-BETA-HSD11|17-BETA-HSDXI|17BHSD11|DHRS8|PAN1B|RETSDR2|SDR16C2	4q22.1	hydroxysteroid 17-beta dehydrogenase 11	Short-chain alcohol dehydrogenases, such as HSD17B11, metabolize secondary alcohols and ketones (Brereton et al., 2001 [PubMed 11165019]).[supplied by OMIM, Jun 2009]
HSD17B12	chr11	43680558	43856617	+	ENSG00000149084.12	protein_coding	KAR|SDR12C1	11p11.2	hydroxysteroid 17-beta dehydrogenase 12	This gene encodes a very important 17beta-hydroxysteroid dehydrogenase (17beta-HSD) that converts estrone into estradiol in ovarian tissue. This enzyme is also involved in fatty acid elongation. [provided by RefSeq, Oct 2011]
HSD17B13	chr4	87303789	87322906	-	ENSG00000170509.11	protein_coding	HMFN0376|NIIL497|SCDR9|SDR16C3	4q22.1	hydroxysteroid 17-beta dehydrogenase 13	Biased expression in liver (RPKM 126.6) and fat (RPKM 7.3)
HSD17B14	chr19	48813017	48836678	-	ENSG00000087076.8	protein_coding	DHRS10|SDR47C1|retSDR3	19q13.33	hydroxysteroid 17-beta dehydrogenase 14	17-beta-hydroxysteroid dehydrogenases, such as HSD17B14, are primarily involved in metabolism of steroids at the C17 position and also of other substrates, such as fatty acids, prostaglandins, and xenobiotics (Lukacik et al., 2007 [PubMed 17067289]).[supplied by OMIM, Jun 2009]
HSD17B1P1	chr17	42546764	42548706	+	ENSG00000108785.7	unprocessed_pseudogene	EDH17B1|EDHB17|HSD17|HSD17BP1|SDR28C1P1	17q21.2	hydroxysteroid 17-beta dehydrogenase 1 pseudogene 1	-
HSD17B3	chr9	96235306	96302152	-	ENSG00000130948.9	protein_coding	EDH17B3|SDR12C2	9q22.32	hydroxysteroid 17-beta dehydrogenase 3	This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone.  It preferentially uses NADP as cofactor.  Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]
HSD17B4	chr5	119452443	119637199	+	ENSG00000133835.14	protein_coding	DBP|MFE-2|MFP-2|MPF-2|PRLTS1|SDR8C1	5q23.1	hydroxysteroid 17-beta dehydrogenase 4	The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
HSD17B6	chr12	56752161	56787790	+	ENSG00000025423.11	protein_coding	HSE|RODH|SDR9C6	12q13.3	hydroxysteroid 17-beta dehydrogenase 6	The protein encoded by this gene has both oxidoreductase and epimerase activities and is involved in androgen catabolism. The oxidoreductase activity can convert 3 alpha-adiol to dihydrotestosterone, while the epimerase activity can convert androsterone to epi-androsterone. Both reactions use NAD+ as the preferred cofactor. This gene is a member of the retinol dehydrogenase family. [provided by RefSeq, Aug 2013]
HSD17B7	chr1	162790702	162812817	+	ENSG00000132196.13	protein_coding	PRAP|SDR37C1	1q23.3	hydroxysteroid 17-beta dehydrogenase 7	HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]
HSD17B7P1	chr1	247827486	247828502	+	ENSG00000232908.3	processed_pseudogene	-	1q44	hydroxysteroid 17-beta dehydrogenase 7 pseudogene 1	-
HSD17B7P2	chr10	38356380	38378505	+	ENSG00000099251.14	transcribed_unprocessed_pseudogene	HSD17B7|Hsd17b_2|bA291L22.1	10p11.1	hydroxysteroid 17-beta dehydrogenase 7 pseudogene 2	Ubiquitous expression in prostate (RPKM 3.6), lymph node (RPKM 3.5) and 25 other tissues
HSD17B8	chr6	33204642	33206831	+	ENSG00000204228.3	protein_coding	D6S2245E|FABG|FABGL|H2-KE6|HKE6|KE6|RING2|SDR30C1|dJ1033B10.9	6p21.32	hydroxysteroid 17-beta dehydrogenase 8	In mice, the Ke6 protein is a 17-beta-hydroxysteroid dehydrogenase that can regulate the concentration of biologically active estrogens and androgens. It is preferentially an oxidative enzyme and inactivates estradiol, testosterone, and dihydrotestosterone. However, the enzyme has some reductive activity and can synthesize estradiol from estrone. The protein encoded by this gene is similar to Ke6 and is a member of the short-chain dehydrogenase superfamily. An alternatively spliced transcript of this gene has been detected, but the full-length nature of this variant has not been determined. [provided by RefSeq, Jul 2008]
HSD3B2	chr1	119414931	119423035	+	ENSG00000203859.9	protein_coding	HSD3B|HSDB|SDR11E2	1p12	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
HSD3B7	chr16	30985207	30989152	+	ENSG00000099377.13	protein_coding	CBAS1|PFIC4|SDR11E3	16p11.2	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
HSD3BP4	chr1	119564066	119572067	+	ENSG00000203855.7	unprocessed_pseudogene	-	1p12	hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 4	-
HSD3BP5	chr1	119601340	119609250	+	ENSG00000198857.3	transcribed_unprocessed_pseudogene	-	1p12	hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 5	-
HSDL2	chr9	112379937	112472410	+	ENSG00000119471.14	protein_coding	C9orf99|SDR13C1	9q32	hydroxysteroid dehydrogenase like 2	Ubiquitous expression in fat (RPKM 44.0), liver (RPKM 33.8) and 24 other tissues
HSF1	chr8	144291591	144314722	+	ENSG00000185122.10	protein_coding	HSTF1	8q24.3	heat shock transcription factor 1	The product of this gene is a transcription factor that is rapidly induced after temperature stress and binds heat shock promoter elements (HSE). This protein plays a role in the regulation of lifespan. Expression of this gene is repressed by phosphorylation, which promotes binding by heat shock protein 90. [provided by RefSeq, Jul 2017]
HSF2	chr6	122399546	122433119	+	ENSG00000025156.12	protein_coding	HSF 2|HSTF 2	6q22.31	heat shock transcription factor 2	The protein encoded by this gene belongs to the HSF family of transcription factors that bind specifically to the heat-shock promoter element and activate transcription. Heat shock transcription factors activate heat-shock response genes under conditions of heat or other stresses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
HSF2BP	chr21	43529192	43659493	-	ENSG00000160207.8	protein_coding	MEILB2|POF19	21q22.3	heat shock transcription factor 2 binding protein	HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation. [provided by RefSeq, Jul 2008]
HSF4	chr16	67164681	67169945	+	ENSG00000102878.16	protein_coding	CTM|CTRCT5	16q22.1	heat shock transcription factor 4	Heat-shock transcription factors (HSFs) activate heat-shock response genes under conditions of heat or other stresses. HSF4 lacks the carboxyl-terminal hydrophobic repeat which is shared among all vertebrate HSFs and has been suggested to be involved in the negative regulation of DNA binding activity. Two alternatively spliced transcripts encoding distinct isoforms and possessing different transcriptional activity have been described. [provided by RefSeq, Jul 2008]
HSH2D	chr19	16134028	16158575	+	ENSG00000196684.12	protein_coding	ALX|HSH2	19p13.11	hematopoietic SH2 domain containing	T-cell activation requires 2 signals: recognition of antigen by the T-cell receptor (see TCR; MIM 186880) and a costimulatory signal provided primarily by CD28 (MIM 186760) in naive T cells. HSH2 is a target of both of these signaling pathways (Greene et al., 2003 [PubMed 12960172]).[supplied by OMIM, Mar 2008]
HSP90AA1	chr14	102080738	102139699	-	ENSG00000080824.18	protein_coding	EL52|HEL-S-65p|HSP86|HSP89A|HSP90A|HSP90N|HSPC1|HSPCA|HSPCAL1|HSPCAL4|HSPN|Hsp103|Hsp89|Hsp90|LAP-2|LAP2	14q32.31	heat shock protein 90 alpha family class A member 1	The protein encoded by this gene is an inducible molecular chaperone that functions as a homodimer. The encoded protein aids in the proper folding of specific target proteins by use of an ATPase activity that is modulated by co-chaperones. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
HSP90AA4P	chr4	189472965	189475192	+	ENSG00000205100.2	transcribed_processed_pseudogene	HSP90Ad|HSPCAL2	4q35.2	heat shock protein 90 alpha family class A member 4, pseudogene	Predicted to enable ATP binding activity; disordered domain specific binding activity; and unfolded protein binding activity. Predicted to be involved in cellular response to heat; protein folding; and protein stabilization. Predicted to be part of protein-containing complex. Predicted to be active in several cellular components, including myelin sheath; neuronal cell body; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
HSP90AA5P	chr3	184115352	184117898	+	ENSG00000205955.4	transcribed_processed_pseudogene	HSP90Ae	3q27.1	heat shock protein 90 alpha family class A member 5, pseudogene	Predicted to enable ATP binding activity and unfolded protein binding activity. Predicted to be involved in protein folding. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
HSP90AB1	chr6	44246166	44253888	+	ENSG00000096384.19	protein_coding	D6S182|HSP84|HSP90B|HSPC2|HSPCB	6p21.1	heat shock protein 90 alpha family class B member 1	This gene encodes a member of the heat shock protein 90 family; these proteins are involved in signal transduction, protein folding and degradation and morphological evolution. This gene encodes the constitutive form of the cytosolic 90 kDa heat-shock protein and is thought to play a role in gastric apoptosis and inflammation. Alternative splicing results in multiple transcript variants. Pseudogenes have been identified on multiple chromosomes. [provided by RefSeq, Dec 2012]
HSP90AB2P	chr4	13333414	13338657	+	ENSG00000205940.8	transcribed_processed_pseudogene	HSP90BB	4p15.33	heat shock protein 90 alpha family class B member 2, pseudogene	Predicted to enable ATP binding activity; disordered domain specific binding activity; and unfolded protein binding activity. Predicted to be involved in cellular response to heat; protein folding; and protein stabilization. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
HSP90AB3P	chr4	87891843	87894015	+	ENSG00000183199.6	processed_pseudogene	HSP90BC|HSPCP1	4q22.1	heat shock protein 90 alpha family class B member 3, pseudogene	Predicted to enable ATP binding activity; disordered domain specific binding activity; and unfolded protein binding activity. Predicted to be involved in cellular response to heat; protein folding; and protein stabilization. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
HSP90AB4P	chr15	58691106	58693125	-	ENSG00000282100.1	processed_pseudogene	HSP90Bd	15q21.3	heat shock protein 90 alpha family class B member 4, pseudogene	Predicted to enable ATP binding activity; disordered domain specific binding activity; and unfolded protein binding activity. Predicted to be involved in cellular response to heat; protein folding; and protein stabilization. Predicted to be part of protein-containing complex. Predicted to be active in cytosol; perinuclear region of cytoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
HSP90B1	chr12	103930107	103953645	+	ENSG00000166598.14	protein_coding	ECGP|GP96|GRP94|HEL-S-125m|HEL35|TRA1	12q23.3	heat shock protein 90 beta family member 1	This gene encodes a member of a family of adenosine triphosphate(ATP)-metabolizing molecular chaperones with roles in stabilizing and folding other proteins. The encoded protein is localized to melanosomes and the endoplasmic reticulum. Expression of this protein is associated with a variety of pathogenic states, including tumor formation. There is a microRNA gene located within the 5 exon of this gene. There are pseudogenes for this gene on chromosomes 1 and 15. [provided by RefSeq, Aug 2012]
HSP90B2P	chr15	99257632	99260015	+	ENSG00000259706.1	processed_pseudogene	GRP94P1|GRP94b|HSP|HSPCP2|TRA1P1|TRAP1	15q26.3	heat shock protein 90 beta family member 2, pseudogene	-
HSPA12A	chr10	116671192	116849741	-	ENSG00000165868.13	protein_coding	-	10q25.3	heat shock protein family A (Hsp70) member 12A	-
HSPA14	chr10	14838164	14871741	+	ENSG00000187522.14	protein_coding	HSP70-4|HSP70L1	10p13	heat shock protein family A (Hsp70) member 14	Predicted to enable several functions, including ATP binding activity; misfolded protein binding activity; and unfolded protein binding activity. Predicted to be involved in several processes, including cellular response to unfolded protein; chaperone cofactor-dependent protein refolding; and protein refolding. Located in cytosol. Colocalizes with ribosome. [provided by Alliance of Genome Resources, Apr 2022]
HSPA1A	chr6	31815464	31817946	+	ENSG00000204389.9	protein_coding	HEL-S-103|HSP70-1|HSP70-1A|HSP70-2|HSP70.1|HSP70.2|HSP70I|HSP72|HSPA1	6p21.33	heat shock protein family A (Hsp70) member 1A	This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008]
HSPA1B	chr6	31827735	31830255	+	ENSG00000204388.6	protein_coding	HSP70-1|HSP70-1B|HSP70-2|HSP70.1|HSP70.2|HSP72|HSPA1|HSX70	6p21.33	heat shock protein family A (Hsp70) member 1B	This intronless gene encodes a 70kDa heat shock protein which is a member of the heat shock protein 70 family. In conjuction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. It is also involved in the ubiquitin-proteasome pathway through interaction with the AU-rich element RNA-binding protein 1. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which encode similar proteins. [provided by RefSeq, Jul 2008]
HSPA1L	chr6	31809619	31815065	-	ENSG00000204390.9	protein_coding	HSP70-1L|HSP70-HOM|HSP70T|hum70t	6p21.33	heat shock protein family A (Hsp70) member 1 like	This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which also encode isoforms of the 70kDa heat shock protein. [provided by RefSeq, Jul 2008]
HSPA2	chr14	64535905	64546173	+	ENSG00000126803.9	protein_coding	HSP70-2|HSP70-3	14q23.3	heat shock protein family A (Hsp70) member 2	-
HSPA4	chr5	133051962	133106449	+	ENSG00000170606.14	protein_coding	APG-2|HEL-S-5a|HS24/P52|HSPH2|RY|hsp70|hsp70RY	5q31.1	heat shock protein family A (Hsp70) member 4	Ubiquitous expression in testis (RPKM 45.7), esophagus (RPKM 33.4) and 25 other tissues
HSPA5	chr9	125234853	125241330	-	ENSG00000044574.7	protein_coding	BIP|GRP78|HEL-S-89n	9q33.3	heat shock protein family A (Hsp70) member 5	The protein encoded by this gene is a member of the heat shock protein 70 (HSP70) family. This protein localizes to the lumen of the endoplasmic reticulum (ER) where it operates as a typical HSP70 chaperone involved in the folding and assembly of proteins in the ER and is a master regulator of ER homeostasis. During cellular stress, as during viral infection or tumorogenesis, this protein interacts with the transmembrane stress sensor proteins PERK (protein kinase R-like endoplasmic reticulum kinase), IRE1 (inositol-requiring kinase 1), and ATF6 (activating transcription factor 6) where it acts as a repressor of the unfolded protein response (UPR) and also plays a role in cellular apoptosis and senescence. Elevated expression and atypical translocation of this protein to the cell surface has been reported in viral infections and some types of cancer cells. At the cell surface this protein may facilitate viral attachment and entry to host cells. This gene is a therapeutic target for the treatment of coronavirus diseases and chemoresistant cancers. [provided by RefSeq, Jul 2020]
HSPA6	chr1	161524540	161526910	+	ENSG00000173110.7	protein_coding	HSP70B'	1q23.3	heat shock protein family A (Hsp70) member 6	-
HSPA7	chr1	161606291	161608217	+	ENSG00000225217.1	unprocessed_pseudogene	HSP70B	1q23.3	heat shock protein family A (Hsp70) member 7 (pseudogene)	Predicted to enable several functions, including ATP binding activity; misfolded protein binding activity; and ubiquitin protein ligase binding activity. Predicted to be involved in several processes, including cellular response to unfolded protein; chaperone cofactor-dependent protein refolding; and protein refolding. Located in blood microparticle and extracellular exosome. Colocalizes with COP9 signalosome. [provided by Alliance of Genome Resources, Apr 2022]
HSPA8	chr11	123057489	123063230	-	ENSG00000109971.13	protein_coding	HEL-33|HEL-S-72p|HSC54|HSC70|HSC71|HSP71|HSP73|HSPA10|LAP-1|LAP1|NIP71	11q24.1	heat shock protein family A (Hsp70) member 8	This gene encodes a member of the heat shock protein 70 family, which contains both heat-inducible and constitutively expressed members. This protein belongs to the latter group, which are also referred to as heat-shock cognate proteins. It functions as a chaperone, and binds to nascent polypeptides to facilitate correct folding. It also functions as an ATPase in the disassembly of clathrin-coated vesicles during transport of membrane components through the cell. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
HSPA8P14	chr12	111381867	111385638	+	ENSG00000257539.2	processed_pseudogene	-	12q24.12	heat shock protein family A (Hsp70) member 8 pseudogene 14	-
HSPA8P15	chr6	151411259	151413945	-	ENSG00000219395.2	processed_pseudogene	-	6q25.1	heat shock protein family A (Hsp70) member 8 pseudogene 15	-
HSPA8P4	chr5	130140031	130141950	+	ENSG00000248610.1	processed_pseudogene	-	5q23.3	heat shock protein family A (Hsp70) member 8 pseudogene 4	-
HSPA9	chr5	138554882	138575444	-	ENSG00000113013.12	protein_coding	CRP40|CSA|EVPLS|GRP-75|GRP75|HEL-S-124m|HSPA9B|MOT|MOT2|MTHSP75|PBP74|SAAN|SIDBA4	5q31.2	heat shock protein family A (Hsp70) member 9	This gene encodes a member of the heat shock protein 70 gene family. The encoded protein is primarily localized to the mitochondria but is also found in the endoplasmic reticulum, plasma membrane and cytoplasmic vesicles. This protein is a heat-shock cognate protein. This protein plays a role in cell proliferation, stress response and maintenance of the mitochondria. A pseudogene of this gene is found on chromosome 2.[provided by RefSeq, May 2010]
HSPB1	chr7	76302544	76304295	+	ENSG00000106211.8	protein_coding	CMT2F|HEL-S-102|HMN2B|HS.76067|HSP27|HSP28|Hsp25|SRP27	7q11.23	heat shock protein family B (small) member 1	This gene encodes a member of the small heat shock protein (HSP20) family of proteins. In response to environmental stress, the encoded protein translocates from the cytoplasm to the nucleus and functions as a molecular chaperone that promotes the correct folding of other proteins. This protein plays an important role in the differentiation of a wide variety of cell types. Expression of this gene is correlated with poor clinical outcome in multiple human cancers, and the encoded protein may promote cancer cell proliferation and metastasis, while protecting cancer cells from apoptosis. Mutations in this gene have been identified in human patients with Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. [provided by RefSeq, Aug 2017]
HSPB2	chr11	111912242	111914093	+	ENSG00000170276.5	protein_coding	HSP27|Hs.78846|LOH11CR1K|MKBP	11q23.1	heat shock protein family B (small) member 2	The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The protein is expressed preferentially in the heart and skeletal muscle. This protein regulates Myotonic Dystrophy Protein Kinase, which plays an important role in maintenance of muscle structure and function. [provided by RefSeq, Dec 2012]
HSPB3	chr5	54455601	54456384	+	ENSG00000169271.2	protein_coding	DHMN2C|HMN2C|HSPL27	5q11.2	heat shock protein family B (small) member 3	This gene encodes a muscle-specific small heat shock protein. A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[provided by RefSeq, Sep 2010]
HSPB6	chr19	35754569	35758079	-	ENSG00000004776.12	protein_coding	HEL55|Hsp20|PPP1R91	19q13.12	heat shock protein family B (small) member 6	This locus encodes a heat shock protein. The encoded protein likely plays a role in smooth muscle relaxation. [provided by RefSeq, Jan 2012]
HSPB7	chr1	16014028	16019594	-	ENSG00000173641.17	protein_coding	cvHSP	1p36.13	heat shock protein family B (small) member 7	This gene encodes a small heat shock family B member that can heterodimerize with similar heat shock proteins. Defects in this gene are associated with advanced heart failure. In addition, the encoded protein may be a tumor suppressor in the p53 pathway, with defects in this gene being associated with renal cell carcinoma. [provided by RefSeq, Mar 2017]
HSPB9	chr17	42121431	42123352	+	ENSG00000260325.1	protein_coding	CT51	17q21.2	heat shock protein family B (small) member 9	-
HSPBAP1	chr3	122740003	122793824	-	ENSG00000169087.10	protein_coding	PASS1	3q21.1	HSPB1 associated protein 1	This gene encodes a protein that binds to one of the small heat shock proteins, specifically hsp27. Hsp27 is involved with cell growth and differentiation. This encoded protein was found to be abnormally expressed in patients with intractable epilepsy, although how brain function is affected remains unknown. [provided by RefSeq, Sep 2011]
HSPBP1	chr19	55262231	55280381	-	ENSG00000133265.10	protein_coding	FES1	19q13.42	HSPA (Hsp70) binding protein 1	Ubiquitous expression in brain (RPKM 7.8), kidney (RPKM 7.4) and 25 other tissues
HSPD1	chr2	197486581	197516737	-	ENSG00000144381.16	protein_coding	CPN60|GROEL|HLD4|HSP-60|HSP60|HSP65|HuCHA60|SPG13	2q33.1	heat shock protein family D (Hsp60) member 1	This gene encodes a member of the chaperonin family. The encoded mitochondrial protein may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. This gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010]
HSPD1P10	chr6	87298772	87300447	+	ENSG00000216990.2	processed_pseudogene	HSPD1-4P	6q14.3-q15	heat shock protein family D (Hsp60) member 1 pseudogene 10	-
HSPD1P11	chr5	95768999	95770700	+	ENSG00000251348.1	processed_pseudogene	HSPD1-11P	5q15	heat shock protein family D (Hsp60) member 1 pseudogene 11	-
HSPD1P4	chr12	56511002	56512703	+	ENSG00000257576.1	processed_pseudogene	HSPD1-5P	12q13.3	heat shock protein family D (Hsp60) member 1 pseudogene 4	-
HSPE1	chr2	197499994	197503457	+	ENSG00000115541.10	protein_coding	CPN10|EPF|GROES|HSP10	2q33.1	heat shock protein family E (Hsp10) member 1	This gene encodes a major heat shock protein which functions as a chaperonin. Its structure consists of a heptameric ring which binds to another heat shock protein in order to form a symmetric, functional heterodimer which enhances protein folding in an ATP-dependent manner. This gene and its co-chaperonin, HSPD1, are arranged in a head-to-head orientation on chromosome 2. Naturally occurring read-through transcription occurs between this locus and the neighboring locus MOBKL3.[provided by RefSeq, Feb 2011]
HSPE1-MOB4	chr2	197500413	197550726	+	ENSG00000270757.1	protein_coding	HSPE1-PHOCN	2q33.1	HSPE1-MOB4 readthrough	This locus represents naturally occurring read-through transcription between the neighboring HSPE1 (heat shock 10kDa protein 1 (chaperonin 10)) and MOB4 (MOB family member 4, phocein) genes on chromosome 2. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Oct 2011]
HSPE1P18	chr11	118208932	118209211	-	ENSG00000255163.1	processed_pseudogene	-	11q23.3	heat shock protein family E (Hsp10) member 1 pseudogene 18	-
HSPE1P3	chr15	90634725	90635033	+	ENSG00000259746.1	processed_pseudogene	-	15q26.1	heat shock protein family E (Hsp10) member 1 pseudogene 3	-
HSPE1P5	chr16	68686399	68686670	+	ENSG00000261395.3	transcribed_processed_pseudogene	-	16q22.1	heat shock protein family E (Hsp10) member 1 pseudogene 5	-
HSPG2	chr1	21822245	21937297	-	ENSG00000142798.17	protein_coding	HSPG|PLC|PRCAN|SJA|SJS|SJS1	1p36.12	heparan sulfate proteoglycan 2	This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, collagen type IV, FGFBP1, FBLN2, FGF7 and transthyretin, etc., and it plays essential roles in multiple biological activities. Perlecan is a key component of the vascular extracellular matrix, where it helps to maintain the endothelial barrier function. It is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis. It can also promote growth factor (e.g., FGF2) activity and thus stimulate endothelial growth and re-generation. It is a major component of basement membranes, where it is involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. Mutations in this gene cause Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia, and tardive dyskinesia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
HSPH1	chr13	31134974	31162388	-	ENSG00000120694.19	protein_coding	HSP105|HSP105A|HSP105B|NY-CO-25	13q12.3	heat shock protein family H (Hsp110) member 1	This gene encodes a member of the heat shock protein 70 family of proteins. The encoded protein functions as a nucleotide exchange factor for the molecular chaperone heat shock cognate 71 kDa protein (Hsc70). In addition, this protein plays a distinct but related role as a holdase that inhibits the aggregation of misfolded proteins, including the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Elevated expression of this protein has been observed in numerous human cancers. [provided by RefSeq, Mar 2017]
HTR1B	chr6	77461753	77463773	-	ENSG00000135312.6	protein_coding	5-HT-1B|5-HT-1D-beta|5-HT1B|5-HT1DB|HTR1D2|HTR1DB|S12	6q14.1	5-hydroxytryptamine receptor 1B	The protein encoded by this intronless gene is a G-protein coupled receptor for serotonin (5-hydroxytryptamine). Ligand binding activates second messengers that inhibit the activity of adenylate cyclase and manage the release of serotonin, dopamine, and acetylcholine in the brain. The encoded protein may be involved in several neuropsychiatric disorders and therefore is often a target of antidepressant and other psychotherapeutic drugs. [provided by RefSeq, Nov 2015]
HTR1D	chr1	23191895	23194729	-	ENSG00000179546.4	protein_coding	5-HT1D|HT1DA|HTR1DA|HTRL|RDC4	1p36.12	5-hydroxytryptamine receptor 1D	-
HTR1F	chr3	87990696	87993835	+	ENSG00000179097.5	protein_coding	5-HT-1F|5-HT1F|5HT6|HTR1EL|MR77	3p11.2-p11.1	5-hydroxytryptamine receptor 1F	Low expression observed in reference dataset
HTR2A	chr13	46831550	46897076	-	ENSG00000102468.10	protein_coding	5-HT2A|HTR2	13q14.2	5-hydroxytryptamine receptor 2A	This gene encodes one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepressant citalopram in patients with major depressive disorder (MDD). MDD patients who also have a mutation in intron 2 of this gene show a significantly reduced response to citalopram as this antidepressant downregulates expression of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
HTR2B	chr2	231108230	231125118	-	ENSG00000135914.5	protein_coding	5-HT(2B)|5-HT-2B|5-HT2B	2q37.1	5-hydroxytryptamine receptor 2B	This gene encodes one of the several different receptors for 5-hydroxytryptamine (serotonin) that belongs to the G-protein coupled receptor 1 family. Serotonin is a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. Serotonin receptors mediate many of the central and peripheral physiologic functions of serotonin, including regulation of cardiovascular functions and impulsive behavior. Population and family-based analyses of a minor allele (glutamine-to-stop substitution, designated Q20*) which blocks expression of this protein, and knockout studies in mice, suggest a role for this gene in impulsivity. However, other factors, such as elevated testosterone levels, may also be involved. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
HTR3C	chr3	184053047	184060671	+	ENSG00000178084.1	protein_coding	-	3q27.1	5-hydroxytryptamine receptor 3C	Low expression observed in reference dataset
HTR3D	chr3	184031544	184039369	+	ENSG00000186090.10	protein_coding	5HT3D	3q27.1	5-hydroxytryptamine receptor 3D	The protein encoded this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit D of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a mitogen and a hormone. This hormone has been linked to neuropsychiatric disorders, including anxiety, depression, and migraine. Serotonin receptors causes fast and depolarizing responses in neurons following activation. The genes encoding subunits C, D and E of this type 3 receptor form a cluster on chromosome 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
HTR3E	chr3	184097064	184106995	+	ENSG00000186038.9	protein_coding	5-HT3-E|5-HT3E|5-HT3c1	3q27.1	5-hydroxytryptamine receptor 3E	This locus encodes a 5-hydroxytryptamine (serotonin) receptor subunit. The encoded protein, subunit E, may play a role in neurotransmission in myenteric neurons. Genes encoding subunits C, D and E form a cluster on chromosome 3. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2012]
HTR3E-AS1	chr3	184095118	184105178	-	ENSG00000238020.1	antisense	-	3q27.1	HTR3E antisense RNA 1	-
HTR5A-AS1	chr7	155067067	155071557	-	ENSG00000220575.7	antisense	HTR5AOS	7q36.2	HTR5A antisense RNA 1	Restricted expression toward brain (RPKM 2.6)
HTR5BP	chr2	117859427	117934942	+	ENSG00000125631.7	transcribed_unprocessed_pseudogene	5-HT5B|GPR134|HTR5B	2q14.1	5-hydroxytryptamine receptor 5B, pseudogene	-
HTR6	chr1	19665287	19679562	+	ENSG00000158748.3	protein_coding	5-HT6|5-HT6R	1p36.13	5-hydroxytryptamine receptor 6	This gene encodes a protein that belongs to the seven-transmembrane G protein-coupled receptor family of proteins. The encoded protein couples with the Gs alpha subunit and stimulates adenylate cyclase to activate the cyclic AMP-dependent signaling pathway. This receptor is thought to regulate cholinergic neuronal transmission in the brain. Several antidepressants and antipsychotic drugs have a high affinity for this receptor. [provided by RefSeq, Aug 2013]
HTR7	chr10	90740823	90857698	-	ENSG00000148680.15	protein_coding	5-HT7	10q23.31	5-hydroxytryptamine receptor 7	The neurotransmitter, serotonin, is thought to play a role in various cognitive and behavioral functions. The serotonin receptor encoded by this gene belongs to the superfamily of G protein-coupled receptors and the gene is a candidate locus for involvement in autistic disorder and other neuropsychiatric disorders. Three splice variants have been identified which encode proteins that differ in the length of their carboxy terminal ends. [provided by RefSeq, Jul 2008]
HTR7P1	chr12	13000420	13004830	+	ENSG00000183935.5	transcribed_processed_pseudogene	HTR7P	12p13.1	5-hydroxytryptamine receptor 7 pseudogene 1	-
HTRA1	chr10	122461525	122514908	+	ENSG00000166033.11	protein_coding	ARMD7|CADASIL2|CARASIL|HtrA|L56|ORF480|PRSS11	10q26.13	HtrA serine peptidase 1	This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008]
HTRA3	chr4	8269765	8307111	+	ENSG00000170801.9	protein_coding	Prsp|Tasp	4p16.1	HtrA serine peptidase 3	Enables endopeptidase activity; identical protein binding activity; and serine-type peptidase activity. Involved in proteolysis. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
HTRA4	chr8	38974164	38988662	+	ENSG00000169495.4	protein_coding	-	8p11.22	HtrA serine peptidase 4	Biased expression in placenta (RPKM 16.9) and bone marrow (RPKM 1.2)
HTT	chr4	3074681	3243959	+	ENSG00000197386.10	protein_coding	HD|IT15|LOMARS	4p16.3	huntingtin	Huntingtin is a disease gene linked to Huntingtons disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range of trinucleotide repeats (9-35) has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntingtons disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5 UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2016]
HTT-AS	chr4	3063471	3074514	-	ENSG00000251075.1	antisense	HTT-AS1|HTTAS	4p16.3	HTT antisense RNA	-
HUS1	chr7	47695730	47979581	-	ENSG00000136273.11	protein_coding	hHUS1	7p12.3	HUS1 checkpoint clamp component	The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
HUS1B	chr6	655939	656963	-	ENSG00000188996.4	protein_coding	-	6p25.3	HUS1 checkpoint clamp component B	-
HVCN1	chr12	110627841	110704950	-	ENSG00000122986.13	protein_coding	HV1|VSOP	12q24.11	hydrogen voltage gated channel 1	This gene encodes a voltage-gated protein channel protein expressed more highly in certain cells of the immune system. Phagocytic cells produce superoxide anions which require this channel protein, and in B cells this same process facilitates antibody production. This same channel protein, however, can also regulate functions in other cells including spermatozoa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
HYAL1	chr3	50299889	50312381	-	ENSG00000114378.16	protein_coding	HYAL-1|LUCA1|MPS9|NAT6	3p21.31	hyaluronidase 1	This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
HYAL2	chr3	50317790	50322906	-	ENSG00000068001.13	protein_coding	LUCA2	3p21.31	hyaluronidase 2	This gene encodes a weak acid-active hyaluronidase. The encoded protein is similar in structure to other more active hyaluronidases. Hyaluronidases degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan and fragments of hyaluronan are thought to be involved in cell proliferation, migration and differentiation. Although it was previously thought to be a lysosomal hyaluronidase that is active at a pH below 4, the encoded protein is likely a GPI-anchored cell surface protein. This hyaluronidase serves as a receptor for the oncogenic virus Jaagsiekte sheep retrovirus. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. This gene encodes two alternatively spliced transcript variants which differ only in the 5 UTR.[provided by RefSeq, Mar 2010]
HYAL3	chr3	50292831	50299468	-	ENSG00000186792.16	protein_coding	HYAL-3|LUCA-3|LUCA3	3p21.31	hyaluronidase 3	This gene encodes a member of the hyaluronidase family. Hyaluronidases are endoglycosidase enzymes that degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. The regulated turnover of hyaluronan plays a critical role in many biological processes including cell proliferation, migration and differentiation. The encoded protein may also play an important role in sperm function. This gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression, and the expression of specific transcript variants may be indicative of tumor status. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and some isoforms may lack hyaluronidase activity. This gene overlaps and is on the same strand as N-acetyltransferase 6 (GCN5-related), and some transcripts of each gene share a portion of the first exon. [provided by RefSeq, Jan 2011]
HYAL4	chr7	123828983	123877478	+	ENSG00000106302.9	protein_coding	CSHY|HYAL-4	7q31.32	hyaluronidase 4	This gene encodes a protein which is similar in structure to hyaluronidases but lacks hyaluronidase activity. The encoded protein acts as a chondroitin-sulfate-specific endo-beta-N-acetylgalactosaminidase; that is, it exhibits hydrolytic activity toward chondroitin sulfate chains and degrades them into oligosaccharides. Proteoglycans are formed by the covalent linkage of chondroitin sulfate chains to protein. Proteoglycans are ubiquitous components of the extracellular matrix of connective tissues and are also found at the surface of many cell types where they participate in a variety of cellular processes such as cell proliferation, differentiation, migration, cell-cell recognition, extracellular matrix deposition, and tissue morphogenesis. The expression of this gene is highest in testes and placenta. [provided by RefSeq, Apr 2019]
HYDIN	chr16	70807378	71230722	-	ENSG00000157423.17	protein_coding	CILD5|HYDIN1|HYDIN2|PPP1R31	16q22.2	HYDIN axonemal central pair apparatus protein	This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013]
HYI	chr1	43451003	43453989	-	ENSG00000178922.16	protein_coding	HT036	1p34.2	hydroxypyruvate isomerase (putative)	This gene encodes a putative hydroxypyruvate isomerase, which likely catalyzes the conversion of hydroxypyruvate to 2-hydroxy-3-oxopropanoate, and may be involved in carbohydrate transport and metabolism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
HYI-AS1	chr1	43453927	43456995	+	ENSG00000229348.1	3prime_overlapping_ncRNA	-	1p34.2	HYI antisense RNA 1	-
HYKK	chr15	78507564	78537372	+	ENSG00000188266.13	protein_coding	AGPHD1	15q25.1	hydroxylysine kinase	Ubiquitous expression in kidney (RPKM 1.5), duodenum (RPKM 1.5) and 24 other tissues
HYLS1	chr11	125883614	125900648	+	ENSG00000198331.10	protein_coding	HLS	11q24.2	HYLS1 centriolar and ciliogenesis associated	This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2008]
HYOU1	chr11	119044189	119057202	-	ENSG00000149428.18	protein_coding	GRP-170|Grp170|HSP12A|IMD59|ORP-150|ORP150	11q23.3	hypoxia up-regulated 1	The protein encoded by this gene belongs to the heat shock protein 70 family. This gene uses alternative transcription start sites. A cis-acting segment found in the 5 UTR is involved in stress-dependent induction, resulting in the accumulation of this protein in the endoplasmic reticulum (ER) under hypoxic conditions. The protein encoded by this gene is thought to play an important role in protein folding and secretion in the ER. Since suppression of the protein is associated with accelerated apoptosis, it is also suggested to have an important cytoprotective role in hypoxia-induced cellular perturbation. This protein has been shown to be up-regulated in tumors, especially in breast tumors, and thus it is associated with tumor invasiveness. This gene also has an alternative translation initiation site, resulting in a protein that lacks the N-terminal signal peptide. This signal peptide-lacking protein, which is only 3 amino acids shorter than the mature protein in the ER, is thought to have a housekeeping function in the cytosol. In rat, this protein localizes to both the ER by a carboxy-terminal peptide sequence and to mitochondria by an amino-terminal targeting signal. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
HYPK	chr15	43796142	43803043	+	ENSG00000242028.6	protein_coding	C15orf63|HSPC136	15q15.3	huntingtin interacting protein K	Ubiquitous expression in fat (RPKM 18.1), prostate (RPKM 18.1) and 25 other tissues
IAH1	chr2	9473658	9496543	+	ENSG00000134330.18	protein_coding	-	2p25.1	isoamyl acetate hydrolyzing esterase 1 (putative)	-
IARS1	chr9	 92210207	92293697	-	ENSG00000196305	protein-coding	GRIDHH|IARS|ILERS|ILRS|IRS|PRO0785	9q22.31	isoleucyl-tRNA synthetase 1	Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2012]
IBA57	chr1	228165815	228182257	+	ENSG00000181873.12	protein_coding	C1orf69|MMDS3|SPG74	1q42.13	iron-sulfur cluster assembly factor IBA57	The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015]
IBA57-DT	chr1	 228164086	228165512	-	ENSG00000203684	ncRNA	C1orf148|IBA57-AS1	1q42.13	IBA57 divergent transcript	Biased expression in testis (RPKM 4.5), brain (RPKM 1.1) and 4 other tissues
IBSP	chr4	87799581	87812435	+	ENSG00000029559.6	protein_coding	BNSP|BSP|BSP-II|SP-II	4q22.1	integrin binding sialoprotein	The protein encoded by this gene is a major structural protein of the bone matrix. It constitutes approximately 12% of the noncollagenous proteins in human bone and is synthesized by skeletal-associated cell types, including hypertrophic chondrocytes, osteoblasts, osteocytes, and osteoclasts. The only extraskeletal site of its synthesis is the trophoblast. This protein binds to calcium and hydroxyapatite via its acidic amino acid clusters, and mediates cell attachment through an RGD sequence that recognizes the vitronectin receptor. [provided by RefSeq, Jul 2008]
IBTK	chr6	82169983	82247754	-	ENSG00000005700.14	protein_coding	BTBD26|BTKI	6q14.1	inhibitor of Bruton tyrosine kinase	Bruton tyrosine kinase (BTK) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to BTK and downregulates BTKs kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. This gene has a pseudogene on chromosome 18. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
ICA1	chr7	8113184	8262687	-	ENSG00000003147.17	protein_coding	ICA69|ICAp69	7p21.3	islet cell autoantigen 1	This gene encodes a protein with an arfaptin homology domain that is found both in the cytosol and as membrane-bound form on the Golgi complex and immature secretory granules. This protein is believed to be an autoantigen in insulin-dependent diabetes mellitus and primary Sjogrens syndrome. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
ICA1L	chr2	202773150	202871985	-	ENSG00000163596.16	protein_coding	ALS2CR14|ALS2CR15	2q33.2	islet cell autoantigen 1 like	Broad expression in brain (RPKM 3.9), testis (RPKM 2.5) and 22 other tissues
ICAM1	chr19	10270835	10286615	+	ENSG00000090339.8	protein_coding	BB2|CD54|P3.58	19p13.2	intercellular adhesion molecule 1	This gene encodes a cell surface glycoprotein which is typically expressed on endothelial cells and cells of the immune system. It binds to integrins of type CD11a / CD18, or CD11b / CD18 and is also exploited by Rhinovirus as a receptor. [provided by RefSeq, Jul 2008]
ICAM2	chr17	64002594	64020634	-	ENSG00000108622.10	protein_coding	CD102	17q23.3	intercellular adhesion molecule 2	The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen-specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
ICAM3	chr19	10333776	10339823	-	ENSG00000076662.9	protein_coding	CD50|CDW50|ICAM-R	19p13.2	intercellular adhesion molecule 3	The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is constitutively and abundantly expressed by all leucocytes and may be the most important ligand for LFA-1 in the initiation of the immune response. It functions not only as an adhesion molecule, but also as a potent signalling molecule. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
ICAM4	chr19	10286967	10288522	+	ENSG00000105371.8	protein_coding	CD242|LW	19p13.2	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	This gene encodes the Landsteiner-Wiener (LW) blood group antigen(s) that belongs to the immunoglobulin (Ig) superfamily, and that shares similarity with the intercellular adhesion molecule (ICAM) protein family. This ICAM protein contains 2 Ig-like C2-type domains and binds to the leukocyte adhesion LFA-1 protein. The molecular basis of the LW(A)/LW(B) blood group antigens is a single aa variation at position 100; Gln-100=LW(A) and Arg-100=LW(B). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
ICAM5	chr19	10289981	10296778	+	ENSG00000105376.4	protein_coding	TLCN|TLN	19p13.2	intercellular adhesion molecule 5	The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is expressed on the surface of telencephalic neurons and displays two types of adhesion activity, homophilic binding between neurons and heterophilic binding between neurons and leukocytes. It may be a critical component in neuron-microglial cell interactions in the course of normal development or as part of neurodegenerative diseases. [provided by RefSeq, Jul 2008]
ICE2	chr15	60419609	60479160	-	ENSG00000128915.11	protein_coding	BRCC1|NARG2	15q22.2	interactor of little elongation complex ELL subunit 2	This gene encodes a protein component of the little elongation complex (LEC), which plays a role in small nuclear RNA (snRNA) transcription. The LEC regulates snRNA transcription by enhancing both RNA Polymerase II occupancy and transcriptional elongation. The encoded protein and other LEC components have been shown to localize to Cajal bodies, which are sites of ribonucleoprotein (RNP) complex assembly. Pseudogenes of this gene have been identified on chromosomes 3 and 4. [provided by RefSeq, May 2017]
ICE2P2	chr3	88948142	88950928	+	ENSG00000242705.1	processed_pseudogene	NARG2P2	3p11.1	interactor of little elongation complex ELL subunit 2 pseudogene 2	-
ICMT	chr1	6221193	6235972	-	ENSG00000116237.15	protein_coding	HSTE14|MST098|MSTP098|PCCMT|PCMT|PPMT	1p36.31	isoprenylcysteine carboxyl methyltransferase	This gene encodes the third of three enzymes that posttranslationally modify isoprenylated C-terminal cysteine residues in certain proteins and target those proteins to the cell membrane. This enzyme localizes to the endoplasmic reticulum. Alternative splicing may result in other transcript variants, but the biological validity of those transcripts has not been determined. [provided by RefSeq, Jul 2008]
ICMT-DT	chr1	 6236240	6239444	+	-	ncRNA	C1orf211|LINC00337|NCRNA00337	1p36.31	ICMT divergent transcript	-
ICOS	chr2	203936748	203961577	+	ENSG00000163600.12	protein_coding	AILIM|CD278|CVID1	2q33.2	inducible T cell costimulator	The protein encoded by this gene belongs to the CD28 and CTLA-4 cell-surface receptor family. It forms homodimers and plays an important role in cell-cell signaling, immune responses, and regulation of cell proliferation. [provided by RefSeq, Jul 2008]
ICOSLG	chr21	44222991	44240966	-	ENSG00000160223.16	protein_coding	B7-H2|B7H2|B7RP-1|B7RP1|B7h|CD275|GL50|ICOS-L|ICOSL|LICOS	21q22.3	inducible T cell costimulator ligand	Ubiquitous expression in brain (RPKM 4.2), lymph node (RPKM 3.4) and 23 other tissues
ID1	chr20	31605283	31606515	+	ENSG00000125968.8	protein_coding	ID|bHLHb24	20q11.21	inhibitor of DNA binding 1, HLH protein	The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with members of the basic HLH family of transcription factors. The encoded protein has no DNA binding activity and therefore can inhibit the DNA binding and transcriptional activation ability of basic HLH proteins with which it interacts. This protein may play a role in cell growth, senescence, and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ID3	chr1	23557918	23559794	-	ENSG00000117318.8	protein_coding	HEIR-1|bHLHb25	1p36.12	inhibitor of DNA binding 3, HLH protein	The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with other HLH proteins. However, the encoded protein lacks a basic DNA-binding domain and therefore inhibits the DNA binding of any HLH protein with which it interacts. [provided by RefSeq, Aug 2011]
ID4	chr6	19837386	19840684	+	ENSG00000172201.11	protein_coding	IDB4|bHLHb27	6p22.3	inhibitor of DNA binding 4, HLH protein	This gene encodes a member of the inhibitor of DNA binding (ID) protein family. The encoded protein lacks DNA binding ability, and instead regulates gene expression through binding to and inhibiting basic helix-loop-helix transcription factors. This protein has been implicated in the regulation of diverse cellular processes that play a role in development and tumorigenesis. [provided by RefSeq, Aug 2017]
IDE	chr10	92451684	92574076	-	ENSG00000119912.15	protein_coding	INSULYSIN	10q23.33	insulin degrading enzyme	This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diverse peptides such as glucagon, amylin, bradykinin, and kallidin. The preferential affinity of this enzyme for insulin results in insulin-mediated inhibition of the degradation of other peptides such as beta-amyloid. Deficiencies in this proteins function are associated with Alzheimers disease and type 2 diabetes mellitus but mutations in this gene have not been shown to be causitive for these diseases. This protein localizes primarily to the cytoplasm but in some cell types localizes to the extracellular space, cell membrane, peroxisome, and mitochondrion. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but have not been experimentally verified.[provided by RefSeq, Sep 2009]
IDH1	chr2	208236227	208266074	-	ENSG00000138413.13	protein_coding	HEL-216|HEL-S-26|IDCD|IDH|IDP|IDPC|PICD	2q34	isocitrate dehydrogenase (NADP(+)) 1	Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the cytoplasm and peroxisomes. It contains the PTS-1 peroxisomal targeting signal sequence. The presence of this enzyme in peroxisomes suggests roles in the regeneration of NADPH for intraperoxisomal reductions, such as the conversion of 2, 4-dienoyl-CoAs to 3-enoyl-CoAs, as well as in peroxisomal reactions that consume 2-oxoglutarate, namely the alpha-hydroxylation of phytanic acid. The cytoplasmic enzyme serves a significant role in cytoplasmic NADPH production. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]
IDH1-AS1	chr2	208255247	208256181	+	ENSG00000231908.1	antisense	-	2q34	IDH1 antisense RNA 1	-
IDH2	chr15	90083045	90102504	-	ENSG00000182054.9	protein_coding	D2HGA2|ICD-M|IDH|IDHM|IDP|IDPM|mNADP-IDH	15q26.1	isocitrate dehydrogenase (NADP(+)) 2	Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the mitochondria. It plays a role in intermediary metabolism and energy production. This protein may tightly associate or interact with the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
IDH3A	chr15	78131498	78171949	+	ENSG00000166411.13	protein_coding	RP90	15q25.1	isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha	Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the alpha subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. [provided by RefSeq, Jul 2008]
IDH3B	chr20	2658395	2664219	-	ENSG00000101365.20	protein_coding	RP46	20p13	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta	Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the beta subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2016]
IDI1	chr10	1039908	1049170	-	ENSG00000067064.10	protein_coding	IPP1|IPPI1	10p15.3	isopentenyl-diphosphate delta isomerase 1	IDI1 encodes a peroxisomally-localized enzyme that catalyzes the interconversion of isopentenyl diphosphate (IPP) to its highly electrophilic isomer, dimethylallyl diphosphate (DMAPP), which are the substrates for the successive reaction that results in the synthesis of farnesyl diphosphate and, ultimately, cholesterol.  It has been shown in peroxisomal deficiency diseases such as Zellweger syndrome and neonatal adrenoleukodystrophy that there is reduction in IPP isomerase activity. [provided by RefSeq, Jul 2008]
IDI2	chr10	1018907	1025859	-	ENSG00000148377.5	protein_coding	IPPI2	10p15.3	isopentenyl-diphosphate delta isomerase 2	The protein encoded by this gene catalyzes the conversion of isopentenyl diphosphate to dimethylallyl diphosphate, which is a precursor for the synthesis of cholesterol and other isoprenoids. This gene, which is a product of an ancestral gene duplication event, encodes a protein that may be involved in the aggregation of alpha-synuclein in the cerebral cortex of patients with Lewy body disease. In addition, segmental copy number gains in this locus have been associated with sporadic amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2016]
IDI2-AS1	chr10	1022666	1044201	+	ENSG00000232656.7	antisense	C10orf110|HT009|IDI2-AS	10p15.3	IDI2 antisense RNA 1	Ubiquitous expression in bone marrow (RPKM 15.7), liver (RPKM 9.8) and 24 other tissues
IDNK	chr9	83623049	83644130	+	ENSG00000148057.15	protein_coding	C9orf103|bA522I20.2|hGntK	9q21.32	IDNK gluconokinase	Ubiquitous expression in kidney (RPKM 3.7), liver (RPKM 2.2) and 25 other tissues
IDS	chrX	149476990	149521096	-	ENSG00000010404.17	protein_coding	ID2S|MPS2|SIDS	Xq28	iduronate 2-sulfatase	This gene encodes a member of the sulfatase family of proteins. The encoded preproprotein is proteolytically processed to generate two polypeptide chains. This enzyme is involved in the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X-linked lysosomal storage disease mucopolysaccharidosis type II, also known as Hunter syndrome. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
IDUA	chr4	986997	1004506	+	ENSG00000127415.12	protein_coding	IDA|MPS1|MPSI	4p16.3	alpha-L-iduronidase	This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]
IER2	chr19	13150415	13154908	+	ENSG00000160888.6	protein_coding	ETR101	19p13.13	immediate early response 2	Ubiquitous expression in prostate (RPKM 98.0), bone marrow (RPKM 95.1) and 24 other tissues
IER3	chr6	30743199	30744554	-	ENSG00000137331.11	protein_coding	DIF-2|DIF2|GLY96|IEX-1|IEX-1L|IEX1|PRG1	6p21.33	immediate early response 3	This gene functions in the protection of cells from Fas- or tumor necrosis factor type alpha-induced apoptosis. Partially degraded and unspliced transcripts are found after virus infection in vitro, but these transcripts are not found in vivo and do not generate a valid protein. [provided by RefSeq, Jul 2008]
IER3IP1	chr18	47152834	47176374	-	ENSG00000134049.5	protein_coding	HSPC039|MEDS|PRO2309	18q21.1	immediate early response 3 interacting protein 1	This gene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and specificity protein 1 (Sp1). Mutations in this gene may play a role in microcephaly, epilepsy, and diabetes syndrome (MEDS), and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Dec 2011]
IER5	chr1	181088712	181092899	+	ENSG00000162783.10	protein_coding	SBBI48	1q25.3	immediate early response 5	This gene encodes a protein that is similar to other immediate early response proteins. In the mouse, a similar gene may play an important role in mediating the cellular response to mitogenic signals. Studies in rats found the expression of a similar gene to be increased after waking and sleep deprivation. [provided by RefSeq, Jul 2008]
IER5L	chr9	129175552	129178262	-	ENSG00000188483.7	protein_coding	bA247A12.2	9q34.11	immediate early response 5 like	-
IFFO2	chr1	18904281	18956686	-	ENSG00000169991.10	protein_coding	-	1p36.13	intermediate filament family orphan 2	-
IFI16	chr1	158999968	159055155	+	ENSG00000163565.18	protein_coding	IFNGIP1|PYHIN2	1q23.1	interferon gamma inducible protein 16	This gene encodes a member of the HIN-200 (hematopoietic interferon-inducible nuclear antigens with 200 amino acid repeats) family of cytokines. The encoded protein contains domains involved in DNA binding, transcriptional regulation, and protein-protein interactions. The protein localizes to the nucleoplasm and nucleoli, and interacts with p53 and retinoblastoma-1. It modulates p53 function, and inhibits cell growth in the Ras/Raf signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011]
IFI27	chr14	94104836	94116698	+	ENSG00000165949.12	protein_coding	FAM14D|ISG12|ISG12A|P27	14q32.12	interferon alpha inducible protein 27	Broad expression in stomach (RPKM 224.1), spleen (RPKM 211.7) and 21 other tissues
IFI27L1	chr14	94081282	94103846	+	ENSG00000165948.10	protein_coding	FAM14B|ISG12C	14q32.12	interferon alpha inducible protein 27 like 1	Broad expression in testis (RPKM 8.5), adrenal (RPKM 3.1) and 23 other tissues
IFI27L2	chr14	94127779	94130253	-	ENSG00000119632.3	protein_coding	FAM14A|ISG12B|TLH29	14q32.12	interferon alpha inducible protein 27 like 2	Ubiquitous expression in adrenal (RPKM 32.8), brain (RPKM 28.7) and 25 other tissues
IFI30	chr19	18173162	18178117	+	ENSG00000216490.3	protein_coding	GILT|IFI-30|IP-30|IP30	19p13.11	IFI30 lysosomal thiol reductase	The protein encoded by this gene is a lysosomal thiol reductase that at low pH can reduce protein disulfide bonds. The enzyme is expressed constitutively in antigen-presenting cells and induced by gamma-interferon in other cell types. This enzyme has an important role in MHC class II-restricted antigen processing. [provided by RefSeq, Jul 2008]
IFI35	chr17	43006725	43014456	+	ENSG00000068079.7	protein_coding	IFP35	17q21.31	interferon induced protein 35	Ubiquitous expression in spleen (RPKM 18.2), appendix (RPKM 14.5) and 25 other tissues
IFI44L	chr1	78619922	78646145	+	ENSG00000137959.15	protein_coding	C1orf29|GS3686|TLDC5B	1p31.1	interferon induced protein 44 like	Broad expression in spleen (RPKM 16.8), bone marrow (RPKM 13.1) and 23 other tissues
IFI6	chr1	27666061	27672218	-	ENSG00000126709.14	protein_coding	6-16|FAM14C|G1P3|IFI-6-16|IFI616	1p35.3	interferon alpha inducible protein 6	This gene was first identified as one of the many genes induced by interferon. The encoded protein may play a critical role in the regulation of apoptosis. A minisatellite that consists of 26 repeats of a 12 nucleotide repeating element resembling the mammalian splice donor consensus sequence begins near the end of the second exon. Alternatively spliced transcript variants that encode different isoforms by using the two downstream repeat units as splice donor sites have been described. [provided by RefSeq, Jul 2008]
IFIH1	chr2	162267079	162318703	-	ENSG00000115267.5	protein_coding	AGS7|Hlcd|IDDM19|MDA-5|MDA5|RLR-2|SGMRT1	2q24.2	interferon induced with helicase C domain 1	IFIH1 encodes MDA5 which is an intracellular sensor of viral RNA that triggers the innate immune response. Sensing RNA length and secondary structure, MDA5 binds dsRNA oligonucleotides with a modified DExD/H-box helicase core and a C-terminal domain, thus leading to a proinflammatory response that includes interferons. It has been shown that Coronaviruses (CoVs) as well as various other virus families, are capable of evading the MDA5-dependent interferon response, thus impeding the activation of the innate immune response to infection. MDA5 has also been shown to play an important role in enhancing natural killer cell function in malaria infection. In addition to its protective role in antiviral responses, MDA5 has been implicated in autoimmune and autoinflammatory diseases such as type 1 diabetes, systemic lupus erythematosus, and Aicardi-Goutieres syndrome[provided by RefSeq, Jul 2020]
IFIT1	chr10	89392546	89406486	+	ENSG00000185745.9	protein_coding	C56|G10P1|IFI-56|IFI-56K|IFI56|IFIT-1|IFNAI1|ISG56|P56|RNM561	10q23.31	interferon induced protein with tetratricopeptide repeats 1	This gene encodes a protein containing tetratricopeptide repeats that was originally identified as induced upon treatment with interferon. The encoded protein may inhibit viral replication and translational initiation. This gene is located in a cluster on chromosome 10 with five other closely related genes. There is a pseudogene for this gene on chromosome 13. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2012]
IFIT1B	chr10	89378056	89385205	+	ENSG00000204010.3	protein_coding	IFIT1L|bA149I23.6	10q23.31	interferon induced protein with tetratricopeptide repeats 1B	Restricted expression toward bone marrow (RPKM 10.2)
IFIT1P1	chr13	32384660	32386108	+	ENSG00000215515.2	processed_pseudogene	G13P1|IFI56P|IFIT1P|II56P	13q13.1	interferon induced protein with tetratricopeptide repeats 1 pseudogene 1	-
IFIT2	chr10	89283694	89309276	+	ENSG00000119922.9	protein_coding	G10P2|GARG-39|IFI-54|IFI-54K|IFI54|IFIT-2|ISG-54|ISG-54 K|ISG-54K|ISG54|P54|cig42	10q23.31	interferon induced protein with tetratricopeptide repeats 2	Broad expression in bone marrow (RPKM 19.8), spleen (RPKM 15.9) and 24 other tissues
IFIT3	chr10	89327894	89340971	+	ENSG00000119917.13	protein_coding	CIG-49|GARG-49|IFI60|IFIT4|IRG2|ISG60|P60|RIG-G|cig41	10q23.31	interferon induced protein with tetratricopeptide repeats 3	Ubiquitous expression in spleen (RPKM 22.6), lung (RPKM 21.1) and 24 other tissues
IFIT5	chr10	89414586	89421001	+	ENSG00000152778.8	protein_coding	ISG58|P58|RI58	10q23.31	interferon induced protein with tetratricopeptide repeats 5	Ubiquitous expression in spleen (RPKM 7.8), lung (RPKM 7.7) and 25 other tissues
IFITM1	chr11	313506	315272	+	ENSG00000185885.15	protein_coding	9-27|CD225|DSPA2a|IFI17|LEU13	11p15.5	interferon induced transmembrane protein 1	Ubiquitous expression in spleen (RPKM 191.9), endometrium (RPKM 153.8) and 24 other tissues
IFITM10	chr11	1732410	1750591	-	ENSG00000244242.1	protein_coding	DSPA3	11p15.5	interferon induced transmembrane protein 10	Biased expression in adrenal (RPKM 13.9), brain (RPKM 6.2) and 11 other tissues
IFITM2	chr11	307631	315272	+	ENSG00000185201.16	protein_coding	1-8D|DSPA2c	11p15.5	interferon induced transmembrane protein 2	Ubiquitous expression in appendix (RPKM 262.7), spleen (RPKM 209.9) and 23 other tissues
IFITM3	chr11	319669	327537	-	ENSG00000142089.15	protein_coding	1-8U|DSPA2b|IP15	11p15.5	interferon induced transmembrane protein 3	The protein encoded by this gene is an interferon-induced membrane protein that helps confer immunity to influenza A H1N1 virus, West Nile virus, and dengue virus. Two transcript variants, only one of them protein-coding, have been found for this gene. Another variant encoding an N-terminally truncated isoform has been reported, but the full-length nature of this variant has not been determined. [provided by RefSeq, May 2012]
IFITM4P	chr6	29750729	29751148	-	ENSG00000235821.1	processed_pseudogene	dJ377H14.5	6p22.1	interferon induced transmembrane protein 4 pseudogene	-
IFITM5	chr11	298200	299526	-	ENSG00000206013.2	protein_coding	BRIL|DSPA1|Hrmp1|OI5|fragilis4	11p15.5	interferon induced transmembrane protein 5	This gene encodes a membrane protein thought to play a role in bone mineralization. This gene is located on chromosome 11 in a cluster of related genes which are induced by interferon, however, this gene has not been shown to be interferon inducible. A similar gene, located in a gene cluster on mouse chromosome 7, is a member of the interferon-inducible fragilis gene family. The mouse gene encodes a transmembrane protein described as participating in germ cell competence. A mutation in the 5 UTR of this gene has been associated with osteogenesis imperfecta type V (PMID: 22863190, 22863195). [provided by RefSeq, Aug 2012]
IFNA1	chr9	21440454	21441316	+	ENSG00000197919.5	protein_coding	IFL|IFN|IFN-ALPHA|IFN-alphaD|IFNA13|IFNA@|leIF D	9p21.3	interferon alpha 1	This gene is a member of the alpha interferon gene cluster on chromosome 9. The encoded cytokine is a member of the type I interferon family that is produced in response to viral infection as a key part of the innate immune response with potent antiviral, antiproliferative and immunomodulatory properties. This cytokine, like other type I interferons, binds a plasma membrane receptor made of IFNAR1 and IFNAR2 that is ubiquitously expressed, and thus is able to act on virtually all body cells. This cytokine is upregulated in preeclamptic placentas and is thought to be a mediator of preeclampsia. [provided by RefSeq, Aug 2020]
IFNA8	chr9	21409147	21410185	+	ENSG00000120242.3	protein_coding	IFN-alphaB	9p21.3	interferon alpha 8	-
IFNAR1	chr21	33324477	33359862	+	ENSG00000142166.12	protein_coding	AVP|IFN-alpha-REC|IFNAR|IFNBR|IFRC	21q22.11	interferon alpha and beta receptor subunit 1	The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The protein belongs to the type II cytokine receptor family and functions as an antiviral factor. [provided by RefSeq, Jul 2020]
IFNAR2	chr21	33229901	33265675	+	ENSG00000159110.19	protein_coding	IFN-R|IFN-alpha-REC|IFNABR|IFNARB|IMD45	21q22.11	interferon alpha and beta receptor subunit 2	The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The protein belongs to the type II cytokine receptor family. Mutations in this gene are associated with Immunodeficiency 45. [provided by RefSeq, Jul 2020]
IFNE	chr9	21480839	21482313	-	ENSG00000184995.7	protein_coding	IFN-E|IFNE1|IFNT1|INFE1|PRO655	9p21.3	interferon epsilon	-
IFNGR1	chr6	137197484	137219449	-	ENSG00000027697.13	protein_coding	CD119|IFNGR|IMD27A|IMD27B	6q23.3	interferon gamma receptor 1	This gene (IFNGR1) encodes the ligand-binding chain (alpha) of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. A genetic variation in IFNGR1 is associated with susceptibility to Helicobacter pylori infection. In addition, defects in IFNGR1 are a cause of mendelian susceptibility to mycobacterial disease, also known as familial disseminated atypical mycobacterial infection. [provided by RefSeq, Jul 2008]
IFNGR2	chr21	33402896	33479348	+	ENSG00000159128.14	protein_coding	AF-1|IFGR2|IFNGT1|IMD28	21q22.11	interferon gamma receptor 2	This gene (IFNGR2) encodes the non-ligand-binding beta chain of the gamma interferon receptor. Human interferon-gamma receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2 are a cause of mendelian susceptibility to mycobacterial disease (MSMD), also known as familial disseminated atypical mycobacterial infection. MSMD is a genetically heterogeneous disease with autosomal recessive, autosomal dominant or X-linked inheritance. [provided by RefSeq, Jul 2008]
IFNL2	chr19	39268514	39270092	+	ENSG00000183709.7	protein_coding	IFNL2a|IFNL3a|IL-28A|IL28A	19q13.2	interferon lambda 2	This gene encodes a cytokine distantly related to type I interferons and the IL-10 family. This gene, interleukin 28B (IL28B), and interleukin 29 (IL29) are three closely related cytokine genes that form a cytokine gene cluster on a chromosomal region mapped to 19q13. Expression of the cytokines encoded by the three genes can be induced by viral infection. All three cytokines have been shown to interact with a heterodimeric class II cytokine receptor that consists of interleukin 10 receptor, beta (IL10RB) and interleukin 28 receptor, alpha (IL28RA). [provided by RefSeq, Jul 2008]
IFRD1	chr7	112422968	112481017	+	ENSG00000006652.13	protein_coding	PC4|TIS7	7q31.1	interferon related developmental regulator 1	This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
IFRD2	chr3	50287732	50292918	-	ENSG00000214706.10	protein_coding	IFNRP|SKMc15|SM15	3p21.31	interferon related developmental regulator 2	Ubiquitous expression in stomach (RPKM 16.0), thyroid (RPKM 14.2) and 25 other tissues
IFT122	chr3	129440036	129520507	+	ENSG00000163913.11	protein_coding	CED|CED1|FAP80|SPG|WDR10|WDR10p|WDR140	3q21.3-q22.1	intraflagellar transport 122	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
IFT140	chr16	1510427	1612110	-	ENSG00000187535.13	protein_coding	MZSDS|RP80|SRTD9|WDTC2|c305C8.4|c380F5.1|gs114	16p13.3	intraflagellar transport 140	This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease. [provided by RefSeq, Jun 2012]
IFT172	chr2	27444371	27489789	-	ENSG00000138002.14	protein_coding	BBS20|NPHP17|RP71|SLB|SRTD10|osm-1|wim	2p23.3	intraflagellar transport 172	This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]
IFT22	chr7	101313367	101321823	-	ENSG00000128581.15	protein_coding	FAP9|RABL5	7q22.1	intraflagellar transport 22	Broad expression in testis (RPKM 22.2), thyroid (RPKM 11.1) and 21 other tissues
IFT43	chr14	75902136	76084585	+	ENSG00000119650.12	protein_coding	C14orf179|CED3|RP81|SRTD18	14q24.3	intraflagellar transport 43	This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
IFT46	chr11	118544528	118572970	-	ENSG00000118096.7	protein_coding	C11orf2|C11orf60|CFAP32	11q23.3	intraflagellar transport 46	Ubiquitous expression in testis (RPKM 6.3), thyroid (RPKM 5.1) and 25 other tissues
IFT52	chr20	43590931	43647296	+	ENSG00000101052.12	protein_coding	C20orf9|CGI-53|NGD2|NGD5	20q13.12	intraflagellar transport 52	This gene encodes a conserved proline-rich protein that is a component of the intraflagellar transport-B (IFT-B) core complex. The encoded protein is essential for the integrity of the IFT-B core complex, and for biosynthesis and maintenance of cilia. Mutations in this gene are associated with ciliopathy that affects the skeleton. [provided by RefSeq, Oct 2016]
IFT57	chr3	108160812	108222570	-	ENSG00000114446.4	protein_coding	ESRRBL1|HIPPI|MHS4R2|OFD18	3q13.12-q13.13	intraflagellar transport 57	Broad expression in testis (RPKM 34.1), lung (RPKM 27.3) and 24 other tissues
IFT74	chr9	26947039	27062930	+	ENSG00000096872.15	protein_coding	BBS22|CCDC2|CMG-1|CMG1	9p21.2	intraflagellar transport 74	This gene encodes a core intraflagellar transport (IFT) protein which belongs to a multi-protein complex involved in the transport of ciliary proteins along axonemal microtubules. IFT proteins are found at the base of the cilium as well as inside the cilium, where they assemble into long arrays between the ciliary base and tip. This protein, together with intraflagellar transport protein 81, binds and transports tubulin within cilia and is required for ciliogenesis. Naturally occurring mutations in this gene are associated with amyotrophic lateral sclerosis--frontotemporal dementia and Bardet-Biedl Syndrome. [provided by RefSeq, Mar 2017]
IFT80	chr3	160256986	160399880	-	ENSG00000068885.14	protein_coding	ATD2|FAP167|SRTD2|WDR56	3q25.33	intraflagellar transport 80	The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]
IFT81	chr12	110124335	110218797	+	ENSG00000122970.15	protein_coding	CDV-1|CDV-1R|CDV1|CDV1R|DV1|SRTD19	12q24.11	intraflagellar transport 81	The protein encoded by this gene, together with IFT74, forms a tubulin-binding module of intraflagellar transport complex B. This module is involved in transport of tubulin within the cilium, and the encoded protein is required for ciliogenesis. Mutations in this gene are a cause of short-rib polydactyly syndromes. [provided by RefSeq, Dec 2016]
IFT88	chr13	20567069	20691437	+	ENSG00000032742.17	protein_coding	D13S1056E|DAF19|TG737|TTC10|hTg737	13q12.11	intraflagellar transport 88	This gene encodes a member of the tetratrico peptide repeat (TPR) family. The encoded protein is involved in cilium biogenesis. Mutations of a similar gene in mouse can cause polycystic kidney disease. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2017]
IFTAP	chr11	 36594502	36659272	+	ENSG00000166352	protein-coding	C11orf74|HEPIS|NWC	11p12	intraflagellar transport associated protein	-
IGBP1P1	chr14	34939324	34940332	+	ENSG00000226677.3	processed_pseudogene	C14orf19	14q13.2	immunoglobulin (CD79A) binding protein 1 pseudogene 1	-
IGDCC3	chr15	65327127	65378040	-	ENSG00000174498.13	protein_coding	HsT18880|PUNC	15q22.31	immunoglobulin superfamily DCC subclass member 3	Biased expression in placenta (RPKM 4.0), testis (RPKM 2.0) and 4 other tissues
IGDCC4	chr15	65381464	65423072	-	ENSG00000103742.11	protein_coding	DDM36|NOPE	15q22.31	immunoglobulin superfamily DCC subclass member 4	Broad expression in ovary (RPKM 6.3), placenta (RPKM 5.2) and 17 other tissues
IGF1	chr12	102395867	102480645	-	ENSG00000017427.15	protein_coding	IGF|IGF-I|IGFI|MGF	12q23.2	insulin like growth factor 1	The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]
IGF1R	chr15	98648971	98964530	+	ENSG00000140443.13	protein_coding	CD221|IGFIR|IGFR|JTK13	15q26.3	insulin like growth factor 1 receptor	This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
IGF2	chr11	2129112	2141238	-	ENSG00000167244.18	protein_coding	C11orf43|GRDF|IGF-II|PP9974|SRS3	11p15.5	insulin like growth factor 2	This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5 region overlaps the INS gene and the 3 region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
IGF2-AS	chr11	2140501	2148666	+	ENSG00000099869.7	antisense	IGF2-AS1|IGF2AS|PEG8	11p15.5	IGF2 antisense RNA	This gene is expressed in antisense to the insulin-like growth factor 2 (IGF2) gene and is imprinted and paternally expressed. It is thought to be non-coding because the putative protein is not conserved and translation is predicted to trigger nonsense mediated decay (NMD). Transcripts from this gene are produced in tumors and may function to suppress cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
IGF2BP1	chr17	48997412	49055650	+	ENSG00000159217.9	protein_coding	CRD-BP|CRDBP|IMP-1|IMP1|VICKZ1|ZBP1	17q21.32	insulin like growth factor 2 mRNA binding protein 1	This gene encodes a member of the insulin-like growth factor 2 mRNA-binding protein family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the mRNAs of certain genes, including insulin-like growth factor 2, beta-actin and beta-transducin repeat-containing protein, and regulating their translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
IGF2BP2	chr3	185643739	185825056	-	ENSG00000073792.15	protein_coding	IMP-2|IMP2|VICKZ2	3q27.2	insulin like growth factor 2 mRNA binding protein 2	This gene encodes a protein that binds the 5 UTR of insulin-like growth factor 2 (IGF2) mRNA and regulates its translation. It plays an important role in metabolism and variation in this gene is associated with susceptibility to diabetes. Alternative splicing and promoter usage results in multiple transcript variants. Related pseudogenes are found on several chromosomes. [provided by RefSeq, Sep 2016]
IGF2BP2-AS1	chr3	185712528	185729787	+	ENSG00000163915.7	antisense	C3orf65	3q27.2	IGF2BP2 antisense RNA 1	Low expression observed in reference dataset
IGF2R	chr6	159969099	160113507	+	ENSG00000197081.12	protein_coding	CD222|CI-M6PR|CIMPR|M6P-R|M6P/IGF2R|MPR 300|MPR1|MPR300|MPRI	6q25.3	insulin like growth factor 2 receptor	This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015]
IGFALS	chr16	1790413	1794971	-	ENSG00000099769.5	protein_coding	ACLSD|ALS	16p13.3	insulin like growth factor binding protein acid labile subunit	The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
IGFBP1	chr7	45888357	45893668	+	ENSG00000146678.9	protein_coding	AFBP|IBP1|IGF-BP25|PP12|hIGFBP-1	7p12.3	insulin like growth factor binding protein 1	This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP N-terminal domain and a thyroglobulin type-I domain. The encoded protein, mainly expressed in the liver, circulates in the plasma and binds both insulin-like growth factors (IGFs) I and II, prolonging their half-lives and altering their interaction with cell surface receptors. This protein is important in cell migration and metabolism. Low levels of this protein may be associated with impaired glucose tolerance, vascular disease and hypertension in human patients. [provided by RefSeq, Aug 2017]
IGFBP2	chr2	216632828	216664436	+	ENSG00000115457.9	protein_coding	IBP2|IGF-BP53	2q35	insulin like growth factor binding protein 2	The protein encoded by this gene is one of six similar proteins that bind insulin-like growth factors I and II (IGF-I and IGF-II). The encoded protein can be secreted into the bloodstream, where it binds IGF-I and IGF-II with high affinity, or it can remain intracellular, interacting with many different ligands. High expression levels of this protein promote the growth of several types of tumors and may be predictive of the chances of recovery of the patient. Several transcript variants, one encoding a secreted isoform and the others encoding nonsecreted isoforms, have been found for this gene. [provided by RefSeq, Sep 2015]
IGFBP3	chr7	45912245	45921874	-	ENSG00000146674.14	protein_coding	BP-53|IBP3	7p12.3	insulin like growth factor binding protein 3	This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
IGFBP4	chr17	40443461	40457731	+	ENSG00000141753.6	protein_coding	BP-4|HT29-IGFBP|IBP4|IGFBP-4	17q21.2	insulin like growth factor binding protein 4	This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma in both glycosylated and non-glycosylated forms. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008]
IGFBP5	chr2	216672105	216695525	-	ENSG00000115461.4	protein_coding	IBP5	2q35	insulin like growth factor binding protein 5	Enables insulin-like growth factor I binding activity. Involved in several processes, including cellular response to cAMP; regulation of smooth muscle cell migration; and regulation of smooth muscle cell proliferation. Part of insulin-like growth factor ternary complex. Biomarker of pulmonary fibrosis. [provided by Alliance of Genome Resources, Apr 2022]
IGFL1	chr19	46229752	46231243	+	ENSG00000188293.5	protein_coding	APRG644|UNQ644	19q13.32	IGF like family member 1	The protein encoded by this gene is a member of the insulin-like growth factor family of signaling molecules. The encoded protein is synthesized as a precursor protein and is proteolytically cleaved to form a secreted mature peptide. The mature peptide binds to a receptor, which in mouse was found on the cell surface of T cells. Increased expression of this gene may be linked to psoriasis. [provided by RefSeq, Aug 2016]
IGFL2	chr19	46143106	46161299	+	ENSG00000204866.8	protein_coding	UNQ645|VPRI645	19q13.32	IGF like family member 2	IGFL2 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially prenatal growth (Emtage et al., 2006 [PubMed 16890402]).[supplied by OMIM, Mar 2008]
IGFL4	chr19	46039748	46077118	-	ENSG00000204869.8	protein_coding	-	19q13.32	IGF like family member 4	-
IGFLR1	chr19	35738801	35742453	-	ENSG00000126246.9	protein_coding	TMEM149	19q13.12	IGF like family receptor 1	Broad expression in lymph node (RPKM 16.7), spleen (RPKM 14.5) and 24 other tissues
IGFN1	chr1	201190825	201228952	+	ENSG00000163395.16	protein_coding	EEF1A2BP1	1q32.1	immunoglobulin like and fibronectin type III domain containing 1	Biased expression in endometrium (RPKM 9.4), testis (RPKM 3.4) and 5 other tissues
IGHA1	chr14	105707118	105708665	-	ENSG00000211895.4	IG_C_gene	IgA1	14q32.33	immunoglobulin heavy constant alpha 1	Contributes to immunoglobulin receptor binding activity. Involved in antibacterial humoral response; glomerular filtration; and positive regulation of respiratory burst. Located in extracellular space. Part of monomeric IgA immunoglobulin complex and secretory dimeric IgA immunoglobulin complex. [provided by Alliance of Genome Resources, Apr 2022]
IGHA2	chr14	105586889	105588395	-	ENSG00000211890.3	IG_C_gene	A2M	14q32.33	immunoglobulin heavy constant alpha 2 (A2m marker)	Contributes to immunoglobulin receptor binding activity. Involved in antibacterial humoral response; glomerular filtration; and positive regulation of respiratory burst. Located in extracellular space. Part of monomeric IgA immunoglobulin complex and secretory dimeric IgA immunoglobulin complex. [provided by Alliance of Genome Resources, Apr 2022]
IGHEP2	chr9	5113549	5114804	+	ENSG00000254017.1	IG_C_pseudogene	-	9p24.1	immunoglobulin heavy constant epsilon P2 (pseudogene)	-
IGHG1	chr14	105736343	105743071	-	ENSG00000211896.7	IG_C_gene	-	14q32.33	immunoglobulin heavy constant gamma 1 (G1m marker)	-
IGHG2	chr14	105643052	105644790	-	ENSG00000211893.3	IG_C_gene	-	14q32.33	immunoglobulin heavy constant gamma 2 (G2m marker)	-
IGHG3	chr14	105769102	105771405	-	ENSG00000211897.8	IG_C_gene	IgG3	14q32.33	immunoglobulin heavy constant gamma 3 (G3m marker)	Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Involved in retina homeostasis. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
IGHG4	chr14	105624341	105626066	-	ENSG00000211892.3	IG_C_gene	-	14q32.33	immunoglobulin heavy constant gamma 4 (G4m marker)	-
IGHGP	chr14	105664633	105669843	-	ENSG00000253755.1	IG_C_pseudogene	IGHGP1	14q32.33	immunoglobulin heavy constant gamma P (non-functional)	-
IGHJ1	chr14	105865407	105865458	-	ENSG00000211905.1	IG_J_gene	JH1	14q32.33	immunoglobulin heavy joining 1	Predicted to be involved in adaptive immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Apr 2022]
IGHJ2	chr14	105865199	105865250	-	ENSG00000211904.2	IG_J_gene	JH2	14q32.33	immunoglobulin heavy joining 2	Annotation category: partial on reference assembly
IGHJ3	chr14	105864587	105864635	-	ENSG00000242887.1	IG_J_gene	JH3b	14q32.33	immunoglobulin heavy joining 3	Annotation category: partial on reference assembly
IGHM	chr14	105851708	105856218	-	ENSG00000211899.9	IG_C_gene	AGM1|MU|VH	14q32.33	immunoglobulin heavy constant mu	Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains and 2 identical light chains (see MIM 147200) joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. Each Ig heavy chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by an individual C region gene, that determines the isotype of the antibody and provides effector or signaling functions. The heavy chain V region is encoded by 1 each of 3 types of genes: V genes (see MIM 147070), joining (J) genes (see MIM 147010), and diversity (D) genes (see MIM 146910). The C region genes are clustered downstream of the V region genes within the heavy chain locus on chromosome 14. The IGHM gene encodes the C region of the mu heavy chain, which defines the IgM isotype. Naive B cells express the transmembrane forms of IgM and IgD (see IGHD; MIM 1471770) on their surface. During an antibody response, activated B cells can switch to the expression of individual downstream heavy chain C region genes by a process of somatic recombination known as isotype switching. In addition, secreted Ig forms that act as antibodies can be produced by alternative RNA processing of the heavy chain C region sequences. Although the membrane forms of all Ig isotypes are monomeric, secreted IgM forms pentamers, and occasionally hexamers, in plasma (summary by Janeway et al., 2005).[supplied by OMIM, Aug 2010]
IGHMBP2	chr11	68903842	68940602	+	ENSG00000132740.8	protein_coding	CATF1|CMT2S|HCSA|HMN6|SMARD1|SMUBP2|ZFAND7	11q13.3	immunoglobulin mu DNA binding protein 2	This gene encodes a helicase superfamily member that binds a specific DNA sequence from the immunoglobulin mu chain switch region. Mutations in this gene lead to spinal muscle atrophy with respiratory distress type 1. [provided by RefSeq, Jul 2008]
IGHV1-3	chr14	106005095	106005574	-	ENSG00000211935.3	IG_V_gene	IGHV13|VI-3B	14q32.33	immunoglobulin heavy variable 1-3	Annotation category: partial on reference assembly
IGHV1-69	chr14	106714684	106715181	-	ENSG00000211973.2	IG_V_gene	IGHV1-E|IGHV169|IGHV1E	14q32.33	immunoglobulin heavy variable 1-69	Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Predicted to be involved in several processes, including activation of immune response; defense response to other organism; and phagocytosis. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex, circulating. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
IGHV2-26	chr14	106301396	106301862	-	ENSG00000211951.2	IG_V_gene	IGHV226|VH	14q32.33	immunoglobulin heavy variable 2-26	Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Predicted to be involved in several processes, including activation of immune response; defense response to other organism; and phagocytosis. Predicted to be part of immunoglobulin complex, circulating. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
IGHV3-15	chr14	106153624	106154163	-	ENSG00000211943.2	IG_V_gene	IGHV315|VH	14q32.33	immunoglobulin heavy variable 3-15	Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Predicted to be involved in several processes, including activation of immune response; defense response to other organism; and phagocytosis. Predicted to be part of immunoglobulin complex, circulating. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
IGHV3-22	chr14	106257762	106258223	-	ENSG00000253957.1	IG_V_pseudogene	3-22P|IGHV322	14q32.33	immunoglobulin heavy variable 3-22 (pseudogene)	-
IGHV3-23	chr14	106268606	106269140	-	ENSG00000211949.3	IG_V_gene	DP47|IGHV323|V3-23|VH26	14q32.33	immunoglobulin heavy variable 3-23	IGHV3-23 belongs to a cluster of approximately 40 functional variable (V) genes in the immunoglobulin (Ig) heavy chain locus on chromosome 14. For background information on the Ig heavy chain and the V gene cluster, see (MIM 147070).[supplied by OMIM, Apr 2008]
IGHV3-25	chr14	106289029	106289479	-	ENSG00000253441.1	IG_V_pseudogene	3-25P|IGHV325	14q32.33	immunoglobulin heavy variable 3-25 (pseudogene)	-
IGHV3-35	chr14	106389392	106389858	-	ENSG00000211957.2	IG_V_gene	IGHV335|VH	14q32.33	immunoglobulin heavy variable 3-35 (non-functional)	Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Predicted to be involved in several processes, including activation of immune response; defense response to other organism; and phagocytosis. Predicted to be part of immunoglobulin complex, circulating. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
IGHV3-42	chr14	106463256	106463691	-	ENSG00000254228.2	IG_V_pseudogene	3-42P|IGHV342	14q32.33	immunoglobulin heavy variable 3-42 (pseudogene)	-
IGHV4-28	chr14	106324254	106324760	-	ENSG00000211952.3	IG_V_gene	IGHV428|VH	14q32.33	immunoglobulin heavy variable 4-28	Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Predicted to be involved in several processes, including activation of immune response; defense response to other organism; and phagocytosis. Predicted to be part of immunoglobulin complex, circulating. Predicted to be active in external side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
IGHV4-31	chr14	106349283	106349792	-	ENSG00000231475.3	IG_V_gene	IGHV431	14q32.33	immunoglobulin heavy variable 4-31	not in current annotation release
IGHV6-1	chr14	105939756	105940253	-	ENSG00000211933.2	IG_V_gene	IGHV61|VH	14q32.33	immunoglobulin heavy variable 6-1	Annotation category: partial on reference assembly
IGHV7-27	chr14	106317823	106318236	-	ENSG00000254326.1	IG_V_pseudogene	7-27P|IGHV727	14q32.33	immunoglobulin heavy variable 7-27 (pseudogene)	-
IGIP	chr5	140125935	140129392	+	ENSG00000182700.4	protein_coding	C5orf53	5q31.3	IgA inducing protein	-
IGKJ2	chr2	88861525	88861563	-	ENSG00000211596.3	IG_J_gene	J2	2p11.2	immunoglobulin kappa joining 2	Annotation category: partial on reference assembly
IGKJ5	chr2	88860568	88860605	-	ENSG00000211593.2	IG_J_gene	J5	2p11.2	immunoglobulin kappa joining 5	Annotation category: partial on reference assembly
IGKV1-12	chr2	89040224	89040745	-	ENSG00000243290.3	IG_V_gene	IGKV112|L19	2p11.2	immunoglobulin kappa variable 1-12	Annotation category: partial on reference assembly
IGKV1-16	chr2	89099859	89100361	-	ENSG00000240864.3	IG_V_gene	IGKV116|L1	2p11.2	immunoglobulin kappa variable 1-16	Annotation category: partial on reference assembly
IGKV1-33	chr2	89266494	89268506	-	ENSG00000242076.2	IG_V_gene	IGKV133|O18	2p11.2	immunoglobulin kappa variable 1-33	Annotation category: partial on reference assembly
IGKV1-37	chr2	89297264	89297785	-	ENSG00000239862.1	IG_V_gene	IGKV137|O14	2p11.2	immunoglobulin kappa variable 1-37 (non-functional)	Annotation category: partial on reference assembly
IGKV1-6	chr2	88966262	88966767	-	ENSG00000239855.1	IG_V_gene	IGKV16|L11	2p11.2	immunoglobulin kappa variable 1-6	Annotation category: partial on reference assembly
IGKV1-8	chr2	88992409	88992931	-	ENSG00000240671.4	IG_V_gene	IGKV18|L9	2p11.2	immunoglobulin kappa variable 1-8	Annotation category: partial on reference assembly
IGKV1D-8	chr2	90220727	90221384	+	ENSG00000239819.2	IG_V_gene	IGKV1D8|L24|L24a	2p11.2	immunoglobulin kappa variable 1D-8	Annotation category: partial on reference assembly
IGKV1OR2-108	chr2	113406396	113406872	+	ENSG00000231292.6	IG_V_gene	IGKV1OR2108|IGO1	2q12-q14	immunoglobulin kappa variable 1/OR2-108 (non-functional)	not in current annotation release
IGKV2-26	chr2	89196096	89196829	-	ENSG00000254098.1	IG_V_pseudogene	A21|IGKV226	2p11.2	immunoglobulin kappa variable 2-26 (pseudogene)	-
IGKV2-28	chr2	89221698	89222461	-	ENSG00000244116.3	IG_V_gene	A19|IGKV228	2p11.2	immunoglobulin kappa variable 2-28	Annotation category: partial on reference assembly
IGKV2-29	chr2	89234174	89234912	-	ENSG00000253998.3	IG_V_pseudogene	A18|A18b|IGKV|IGKV229|IGVK-A18	2p11.2	immunoglobulin kappa variable 2-29	-
IGKV2-30	chr2	89244781	89245596	-	ENSG00000243238.1	IG_V_gene	A17|IGKV230	2p11.2	immunoglobulin kappa variable 2-30	Annotation category: partial on reference assembly
IGKV3-15	chr2	89085177	89085787	-	ENSG00000244437.1	IG_V_gene	IGKV315|L2	2p11.2	immunoglobulin kappa variable 3-15	Annotation category: partial on reference assembly
IGKV3-7	chr2	88978468	88979081	-	ENSG00000243063.1	IG_V_gene	IGKV37|L10|L10a|Vh	2p11.2	immunoglobulin kappa variable 3-7 (non-functional)	Annotation category: partial on reference assembly
IGKV4-1	chr2	88885397	88886153	+	ENSG00000211598.2	IG_V_gene	B3|IGKV41	2p11.2	immunoglobulin kappa variable 4-1	Annotation category: partial on reference assembly
IGKV5-2	chr2	88897232	88897784	+	ENSG00000211599.2	IG_V_gene	B2|IGKV52	2p11.2	immunoglobulin kappa variable 5-2	Annotation category: partial on reference assembly
IGKV6-21	chr2	89159751	89160366	-	ENSG00000211611.2	IG_V_gene	A26|IGKV621	2p11.2	immunoglobulin kappa variable 6-21 (non-functional)	Annotation category: partial on reference assembly
IGLC3	chr22	22906342	22906803	+	ENSG00000211679.2	IG_C_gene	IGLC	22q11.22	immunoglobulin lambda constant 3 (Kern-Oz+ marker)	-
IGLJ2	chr22	22899481	22899655	+	ENSG00000211676.2	IG_J_gene	J2	22q11.22	immunoglobulin lambda joining 2	-
IGLON5	chr19	51311848	51330354	+	ENSG00000142549.9	protein_coding	-	19q13.41	IgLON family member 5	-
IGLV1-36	chr22	22431958	22432465	+	ENSG00000211655.3	IG_V_gene	IGLV136|V1-11	22q11.22	immunoglobulin lambda variable 1-36	-
IGLV1-41	chr22	22404207	22404721	+	ENSG00000253818.1	IG_V_pseudogene	IGLV141|V1-14P	22q11.22	immunoglobulin lambda variable 1-41 (pseudogene)	-
IGLV3-10	chr22	22811747	22812285	+	ENSG00000211669.2	IG_V_gene	IGLV310|V2-7	22q11.22	immunoglobulin lambda variable 3-10	-
IGLV3-12	chr22	22771824	22772586	+	ENSG00000211667.2	IG_V_gene	IGLV312|V2-8	22q11.22	immunoglobulin lambda variable 3-12	-
IGLV3-13	chr22	22762294	22762516	+	ENSG00000253590.1	IG_V_pseudogene	IGLV313|V2-9P	22q11.22	immunoglobulin lambda variable 3-13 (pseudogene)	-
IGLV3-21	chr22	22711689	22713203	+	ENSG00000211662.2	IG_V_gene	IGLV321|V2-14	22q11.22	immunoglobulin lambda variable 3-21	-
IGLV3-29	chr22	22661299	22661542	+	ENSG00000253338.1	IG_V_pseudogene	IGLV329	22q11.22	immunoglobulin lambda variable 3-29 (pseudogene)	-
IGLV5-45	chr22	22375986	22376505	+	ENSG00000211650.2	IG_V_gene	IGLV545|V4-2	22q11.22	immunoglobulin lambda variable 5-45	-
IGLV6-57	chr22	22195799	22196276	+	ENSG00000211640.4	IG_V_gene	IGLV657|V1-22	22q11.22	immunoglobulin lambda variable 6-57	-
IGLV7-46	chr22	22369614	22370087	+	ENSG00000211649.3	IG_V_gene	IGLV746|V3-3	22q11.22	immunoglobulin lambda variable 7-46	-
IGLV8-61	chr22	22098700	22099212	+	ENSG00000211638.2	IG_V_gene	IGLV861|V3-4	22q11.22	immunoglobulin lambda variable 8-61	-
IGLVI-70	chr22	22026076	22026593	+	ENSG00000253239.1	IG_V_pseudogene	IGLV(I)-70|IGLVI70|V1-27P	22q11.22	immunoglobulin lambda variable (I)-70 (pseudogene)	-
IGSF22	chr11	18704305	18726230	-	ENSG00000179057.13	protein_coding	IGFN2	11p15.1	immunoglobulin superfamily member 22	Broad expression in kidney (RPKM 2.8), skin (RPKM 1.7) and 21 other tissues
IGSF23	chr19	44613630	44636781	+	ENSG00000216588.8	protein_coding	-	19q13.31	immunoglobulin superfamily member 23	Biased expression in small intestine (RPKM 1.4), duodenum (RPKM 1.3) and 3 other tissues
IGSF5	chr21	39745407	39802096	+	ENSG00000183067.5	protein_coding	GSF5|JAM4	21q22.2	immunoglobulin superfamily member 5	Low expression observed in reference dataset
IGSF6	chr16	21639537	21652660	-	ENSG00000140749.8	protein_coding	DORA	16p12.2	immunoglobulin superfamily member 6	Biased expression in spleen (RPKM 32.0), appendix (RPKM 25.4) and 13 other tissues
IGSF9B	chr11	133908564	133956985	-	ENSG00000080854.14	protein_coding	LINC00947|MIR4697HG	11q25	immunoglobulin superfamily member 9B	Broad expression in brain (RPKM 1.7), testis (RPKM 1.1) and 21 other tissues
IHH	chr2	219054420	219060467	-	ENSG00000163501.6	protein_coding	BDA1|HHG2	2q35	Indian hedgehog signaling molecule	This gene encodes a member of the hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Nov 2015]
IHO1	chr3	 49191309	49258106	+	ENSG00000173421	protein-coding	CCDC36|CT74|LELA1	3p21.31	interactor of HORMAD1 1	-
IK	chr5	140647058	140662479	+	ENSG00000113141.17	protein_coding	CSA2|RED|RER	5q31.3	IK cytokine	The protein encoded by this gene was identified by its RED repeat, a stretch of repeated arginine, glutamic acid and aspartic acid residues. The protein localizes to discrete dots within the nucleus, excluding the nucleolus. Its function is unknown. This gene maps to chromosome 5; however, a pseudogene may exist on chromosome 2. [provided by RefSeq, Jul 2008]
IKBIP	chr12	98613405	98645113	-	ENSG00000166130.14	protein_coding	IKIP	12q23.1	IKBKB interacting protein	Ubiquitous expression in placenta (RPKM 6.8), urinary bladder (RPKM 5.4) and 24 other tissues
IKBKB	chr8	42271302	42332653	+	ENSG00000104365.13	protein_coding	IKK-beta|IKK2|IKKB|IMD15|IMD15A|IMD15B|NFKBIKB	8p11.21	inhibitor of nuclear factor kappa B kinase subunit beta	The protein encoded by this gene phosphorylates the inhibitor in the inhibitor/NF-kappa-B complex, causing dissociation of the inhibitor and activation of NF-kappa-B. The encoded protein itself is found in a complex of proteins. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Sep 2011]
IKBKE	chr1	206470476	206496889	+	ENSG00000263528.7	protein_coding	IKK-E|IKK-i|IKKE|IKKI	1q32.1	inhibitor of nuclear factor kappa B kinase subunit epsilon	IKBKE is a noncanonical I-kappa-B (see MIM 164008) kinase (IKK) that is essential for regulating antiviral signaling pathways. IKBKE has also been identified as a breast cancer (MIM 114480) oncogene and is amplified and overexpressed in over 30% of breast carcinomas and breast cancer cell lines (Hutti et al., 2009 [PubMed 19481526]).[supplied by OMIM, Oct 2009]
IKZF1	chr7	50304124	50405101	+	ENSG00000185811.16	protein_coding	CVID13|Hs.54452|IK1|IKAROS|LYF1|LyF-1|PPP1R92|PRO0758|ZNFN1A1	7p12.2	IKAROS family zinc finger 1	This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions as a regulator of lymphocyte differentiation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. Most isoforms share a common C-terminal domain, which contains two zinc finger motifs that are required for hetero- or homo-dimerization, and for interactions with other proteins. The isoforms, however, differ in the number of N-terminal zinc finger motifs that bind DNA and in nuclear localization signal presence, resulting in members with and without DNA-binding properties. Only a few isoforms contain the requisite three or more N-terminal zinc motifs that confer high affinity binding to a specific core DNA sequence element in the promoters of target genes. The non-DNA-binding isoforms are largely found in the cytoplasm, and are thought to function as dominant-negative factors. Overexpression of some dominant-negative isoforms have been associated with B-cell malignancies, such as acute lymphoblastic leukemia (ALL). [provided by RefSeq, May 2014]
IKZF2	chr2	212999691	213152427	-	ENSG00000030419.16	protein_coding	ANF1A2|HELIOS|ZNF1A2|ZNFN1A2	2q34	IKAROS family zinc finger 2	This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This protein forms homo- or hetero-dimers with other Ikaros family members, and is thought to function predominantly in early hematopoietic development. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
IKZF3	chr17	39757715	39864188	-	ENSG00000161405.16	protein_coding	AIO|AIOLOS|IMD84|ZNFN1A3	17q12-q21.1	IKAROS family zinc finger 3	This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012]
IKZF4	chr12	56007659	56038435	+	ENSG00000123411.14	protein_coding	EOS|ZNFN1A4	12q13.2	IKAROS family zinc finger 4	Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Eos, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]
IKZF5	chr10	122990806	123008817	-	ENSG00000095574.11	protein_coding	PEGASUS|THC7|ZNFN1A5	10q26.13	IKAROS family zinc finger 5	Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Pegasus, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]
IL10	chr1	206767602	206772494	-	ENSG00000136634.5	protein_coding	CSIF|GVHDS|IL-10|IL10A|TGIF	1q32.1	interleukin 10	The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. Mutations in this gene are associated with an increased susceptibility to HIV-1 infection and rheumatoid arthritis. [provided by RefSeq, May 2020]
IL10RB	chr21	33266358	33310187	+	ENSG00000243646.9	protein_coding	CDW210B|CRF2-4|CRFB4|D21S58|D21S66|IL-10R2	21q22.11	interleukin 10 receptor subunit beta	The protein encoded by this gene belongs to the cytokine receptor family. It is an accessory chain essential for the active interleukin 10 receptor complex. Coexpression of this and IL10RA proteins has been shown to be required for IL10-induced signal transduction. This gene and three other interferon receptor genes, IFAR2, IFNAR1, and IFNGR2, form a class II cytokine receptor gene cluster located in a small region on chromosome 21. [provided by RefSeq, Jul 2008]
IL11	chr19	55364389	55370463	-	ENSG00000095752.6	protein_coding	AGIF|IL-11	19q13.42	interleukin 11	The protein encoded by this gene is a member of the gp130 family of cytokines. These cytokines drive the assembly of multisubunit receptor complexes, all of which contain at least one molecule of the transmembrane signaling receptor IL6ST (gp130). This cytokine is shown to stimulate the T-cell-dependent development of immunoglobulin-producing B cells. It is also found to support the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
IL11RA	chr9	34650702	34661892	+	ENSG00000137070.17	protein_coding	CRSDA	9p13.3	interleukin 11 receptor subunit alpha	Interleukin 11 is a stromal cell-derived cytokine that belongs to a family of pleiotropic and redundant cytokines that use the gp130 transducing subunit in their high affinity receptors. This gene encodes the IL-11 receptor, which is a member of the hematopoietic cytokine receptor family. This particular receptor is very similar to ciliary neurotrophic factor, since both contain an extracellular region with a 2-domain structure composed of an immunoglobulin-like domain and a cytokine receptor-like domain. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]
IL12A	chr3	159988750	159996019	+	ENSG00000168811.6	protein_coding	CLMF|IL-12A|NFSK|NKSF1|P35	3q25.33	interleukin 12A	This gene encodes a subunit of a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. The cytokine is a disulfide-linked heterodimer composed of the 35-kD subunit encoded by this gene, and a 40-kD subunit that is a member of the cytokine receptor family. This cytokine is required for the T-cell-independent induction of interferon (IFN)-gamma, and is important for the differentiation of both Th1 and Th2 cells. The responses of lymphocytes to this cytokine are mediated by the activator of transcription protein STAT4. Nitric oxide synthase 2A (NOS2A/NOS2) is found to be required for the signaling process of this cytokine in innate immunity. [provided by RefSeq, Jul 2008]
IL12A-AS1	chr3	159913400	160225299	-	ENSG00000244040.5	antisense	ILAS1-AS1	3q25.33	IL12A antisense RNA 1	Biased expression in esophagus (RPKM 1.2), testis (RPKM 0.4) and 3 other tissues
IL12B	chr5	159314783	159330887	-	ENSG00000113302.4	protein_coding	CLMF|CLMF2|IL-12B|IMD28|IMD29|NKSF|NKSF2	5q33.3	interleukin 12B	This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008]
IL12RB1	chr19	18058995	18098944	-	ENSG00000096996.15	protein_coding	CD212|IL-12R-BETA1|IL12RB|IMD30	19p13.11	interleukin 12 receptor subunit beta 1	The protein encoded by this gene is a type I transmembrane protein that belongs to the hemopoietin receptor superfamily. This protein binds to interleukine 12 (IL12) with a low affinity, and is thought to be a part of IL12 receptor complex. This protein forms a disulfide-linked oligomer, which is required for its IL12 binding activity. The coexpression of this and IL12RB2 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. Mutations in this gene impair the development of interleukin-17-producing T lymphocytes and result in increased susceptibility to mycobacterial and Salmonella infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
IL12RB2	chr1	67307364	67396900	+	ENSG00000081985.10	protein_coding	-	1p31.3	interleukin 12 receptor subunit beta 2	Broad expression in placenta (RPKM 2.3), brain (RPKM 0.9) and 18 other tissues
IL13	chr5	132656263	132661110	+	ENSG00000169194.9	protein_coding	IL-13|P600	5q31.1	interleukin 13	This gene encodes an immunoregulatory cytokine produced primarily by activated Th2 cells. This cytokine is involved in several stages of B-cell maturation and differentiation. It up-regulates CD23 and MHC class II expression, and promotes IgE isotype switching of B cells. This cytokine down-regulates macrophage activity, thereby inhibits the production of pro-inflammatory cytokines and chemokines. This cytokine is found to be critical to the pathogenesis of allergen-induced asthma but operates through mechanisms independent of IgE and eosinophils. This gene, IL3, IL5, IL4, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL4. [provided by RefSeq, Jul 2008]
IL13RA1	chrX	118727572	118794539	+	ENSG00000131724.10	protein_coding	CD213A1|CT19|IL-13Ra|NR4	Xq24	interleukin 13 receptor subunit alpha 1	The protein encoded by this gene is a subunit of the interleukin 13 receptor. This subunit forms a receptor complex with IL4 receptor alpha, a subunit shared by IL13 and IL4 receptors. This subunit serves as a primary IL13-binding subunit of the IL13 receptor, and may also be a component of IL4 receptors. This protein has been shown to bind tyrosine kinase TYK2, and thus may mediate the signaling processes that lead to the activation of JAK1, STAT3 and STAT6 induced by IL13 and IL4. [provided by RefSeq, Jul 2008]
IL15	chr4	141636599	141733987	+	ENSG00000164136.16	protein_coding	IL-15	4q31.21	interleukin 15	The protein encoded by this gene is a cytokine that regulates T and natural killer cell activation and proliferation. This cytokine and interleukine 2 share many biological activities. They are found to bind common hematopoietin receptor subunits, and may compete for the same receptor, and thus negatively regulate each others activity. The number of CD8+ memory cells is shown to be controlled by a balance between this cytokine and IL2. This cytokine induces the activation of JAK kinases, as well as the phosphorylation and activation of transcription activators STAT3, STAT5, and STAT6. Studies of the mouse counterpart suggested that this cytokine may increase the expression of apoptosis inhibitor BCL2L1/BCL-x(L), possibly through the transcription activation activity of STAT6, and thus prevent apoptosis. Alternatively spliced transcript variants of this gene have been reported. [provided by RefSeq, Feb 2011]
IL15RA	chr10	5943639	5978187	-	ENSG00000134470.20	protein_coding	CD215	10p15.1	interleukin 15 receptor subunit alpha	This gene encodes a cytokine receptor that specifically binds interleukin 15 (IL15) with high affinity. The receptors of IL15 and IL2 share two subunits, IL2R beta and IL2R gamma. This forms the basis of many overlapping biological activities of IL15 and IL2. The protein encoded by this gene is structurally related to IL2R alpha, an additional IL2-specific alpha subunit necessary for high affinity IL2 binding. Unlike IL2RA, IL15RA is capable of binding IL15 with high affinity independent of other subunits, which suggests distinct roles between IL15 and IL2. This receptor is reported to enhance cell proliferation and expression of apoptosis inhibitor BCL2L1/BCL2-XL and BCL2. Multiple alternatively spliced transcript variants of this gene have been reported.[provided by RefSeq, Apr 2010]
IL16	chr15	81159575	81314058	+	ENSG00000172349.17	protein_coding	LCF|NIL16|PRIL16|prIL-16	15q25.1	interleukin 16	The protein encoded by this gene is a pleiotropic cytokine that functions as a chemoattractant, a modulator of T cell activation, and an inhibitor of HIV replication. The signaling process of this cytokine is mediated by CD4. The product of this gene undergoes proteolytic processing, which is found to yield two functional proteins. The cytokine function is exclusively attributed to the secreted C-terminal peptide, while the N-terminal product may play a role in cell cycle control. Caspase 3 is reported to be involved in the proteolytic processing of this protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
IL17B	chr5	149371324	149404202	-	ENSG00000127743.5	protein_coding	IL-17B|IL-20|NIRF|ZCYTO7	5q32	interleukin 17B	The protein encoded by this gene is a T cell-derived cytokine that shares sequence similarity with IL17. This cytokine was reported to stimulate the release of TNF alpha (TNF) and IL1 beta (IL1B) from a monocytic cell line. Immunohistochemical analysis of several nerve tissues indicated that this cytokine is primarily localized to neuronal cell bodies. Alternative splicing results in multiple splice variants. [provided by RefSeq, Dec 2015]
IL17C	chr16	88638591	88640473	+	ENSG00000124391.4	protein_coding	CX2|IL-17C	16q24.2	interleukin 17C	The protein encoded by this gene is a T cell-derived cytokine that shares the sequence similarity with IL17. This cytokine was reported to stimulate the release of tumor necrosis factor alpha and interleukin 1 beta from a monocytic cell line. The expression of this cytokine was found to be restricted to activated T cells. [provided by RefSeq, Jul 2008]
IL17D	chr13	20702127	20723098	+	ENSG00000172458.4	protein_coding	IL-17D	13q12.11	interleukin 17D	The protein encoded by this gene is a cytokine that shares the sequence similarity with IL17. The treatment of endothelial cells with this cytokine has been shown to stimulate the production of other cytokines including IL6, IL8 and CSF2/ GM-CSF. The increased expression of IL8 induced by this cytokine was found to be NF-kappa B-dependent. [provided by RefSeq, Jul 2008]
IL17F	chr6	52236681	52244537	-	ENSG00000112116.9	protein_coding	CANDF6|IL-17F|ML-1|ML1	6p12.2	interleukin 17F	The protein encoded by this gene is a cytokine that shares sequence similarity with IL17. This cytokine is expressed by activated T cells, and has been shown to stimulate the production of several other cytokines, including IL6, IL8, and CSF2/GM_CSF. This cytokine is also found to inhibit the angiogenesis of endothelial cells and induce endothelial cells to produce IL2, TGFB1/TGFB, and monocyte chemoattractant protein-1. [provided by RefSeq, Jul 2008]
IL17RA	chr22	17084954	17115694	+	ENSG00000177663.13	protein_coding	CANDF5|CD217|CDw217|IL-17RA|IL17R|IMD51|hIL-17R	22q11.1	interleukin 17 receptor A	Interleukin 17A (IL17A) is a proinflammatory cytokine secreted by activated T-lymphocytes. It is a potent inducer of the maturation of CD34-positive hematopoietic precursors into neutrophils. The transmembrane protein encoded by this gene (interleukin 17A receptor; IL17RA) is a ubiquitous type I membrane glycoprotein that binds with low affinity to interleukin 17A. Interleukin 17A and its receptor play a pathogenic role in many inflammatory and autoimmune diseases such as rheumatoid arthritis. Like other cytokine receptors, this receptor likely has a multimeric structure. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2014]
IL17RB	chr3	53846580	53865800	+	ENSG00000056736.9	protein_coding	CRL4|EVI27|IL17BR|IL17RH1	3p21.1	interleukin 17 receptor B	The protein encoded by this gene is a cytokine receptor. This receptor specifically binds to IL17B and IL17E, but does not bind to IL17 and IL17C. This receptor has been shown to mediate the activation of NF-kappaB and the production of IL8 induced by IL17E. The expression of the rat counterpart of this gene was found to be significantly up-regulated during intestinal inflammation, which suggested the immunoregulatory activity of this receptor. [provided by RefSeq, Jul 2008]
IL17RC	chr3	9917074	9933630	+	ENSG00000163702.18	protein_coding	CANDF9|IL17-RL|IL17RL	3p25.3|3p25.3-p24.1	interleukin 17 receptor C	This gene encodes a single-pass type I membrane protein that shares similarity with the interleukin-17 receptor (IL-17RA). Unlike IL-17RA, which is predominantly expressed in hemopoietic cells, and binds with high affinity to only IL-17A, this protein is expressed in nonhemopoietic tissues, and binds both IL-17A and IL-17F with similar affinities. The proinflammatory cytokines, IL-17A and IL-17F, have been implicated in the progression of inflammatory and autoimmune diseases. Multiple alternatively spliced transcript variants encoding different isoforms have been detected for this gene, and it has been proposed that soluble, secreted proteins lacking transmembrane and intracellular domains may function as extracellular antagonists to cytokine signaling. [provided by RefSeq, Feb 2011]
IL17RD	chr3	57089982	57170306	-	ENSG00000144730.17	protein_coding	HH18|IL-17RD|IL17RLM|SEF	3p14.3	interleukin 17 receptor D	This gene encodes a membrane protein belonging to the interleukin-17 receptor (IL-17R) protein family. The encoded protein is a component of the interleukin-17 receptor signaling complex, and the interaction between this protein and IL-17R does not require the interleukin. The gene product also affects fibroblast growth factor signaling, inhibiting or stimulating growth through MAPK/ERK signaling. Alternate splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
IL17RE	chr3	9902612	9916402	+	ENSG00000163701.18	protein_coding	-	3p25.3	interleukin 17 receptor E	Broad expression in duodenum (RPKM 10.6), skin (RPKM 9.9) and 17 other tissues
IL17REL	chr22	49994513	50012659	-	ENSG00000188263.10	protein_coding	-	22q13.33	interleukin 17 receptor E like	-
IL18	chr11	112143251	112164117	-	ENSG00000150782.11	protein_coding	IGIF|IL-18|IL-1g|IL1F4	11q23.1	interleukin 18	The protein encoded by this gene is a proinflammatory cytokine of the IL-1 family that is constitutively found as a precursor within the cytoplasm of a variety of cells including macrophages and keratinocytes. The inactive IL-18 precursor is processed to its active form by caspase-1, and is capable of stimulating interferon gamma production, and of regulating both T helper (Th) 1 and Th2 responses. This cytokine has been implicated in the injury of different organs, and in potentially fatal conditions characterized by a cytokine storm. In humans, IL-18 gene is located on chromosome 11. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2020]
IL18BP	chr11	71998541	72005715	+	ENSG00000137496.17	protein_coding	FVH|IL18BPa	11q13.4	interleukin 18 binding protein	The protein encoded by this gene functions as an inhibitor of the proinflammatory cytokine, IL18. It binds IL18, prevents the binding of IL18 to its receptor, and thus inhibits IL18-induced IFN-gamma production, resulting in reduced T-helper type 1 immune responses. This protein is constitutively expressed and secreted in mononuclear cells. Elevated level of this protein is detected in the intestinal tissues of patients with Crohns disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
IL18R1	chr2	102311529	102398775	+	ENSG00000115604.10	protein_coding	CD218a|CDw218a|IL-18R-alpha|IL-18Ralpha|IL-1Rrp|IL18RA|IL18Ralpha2|IL1RRP	2q12.1	interleukin 18 receptor 1	The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This receptor specifically binds interleukin 18 (IL18), and is essential for IL18 mediated signal transduction. IFN-alpha and IL12 are reported to induce the expression of this receptor in NK and T cells. This gene along with four other members of the interleukin 1 receptor family, including IL1R2, IL1R1, ILRL2 (IL-1Rrp2), and IL1RL1 (T1/ST2), form a gene cluster on chromosome 2q. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
IL18RAP	chr2	102418689	102452565	+	ENSG00000115607.9	protein_coding	ACPL|CD218b|CDw218b|IL-18R-beta|IL-18RAcP|IL-18Rbeta|IL-1R-7|IL-1R7|IL-1RAcPL|IL18RB	2q12.1	interleukin 18 receptor accessory protein	The protein encoded by this gene is an accessory subunit of the heterodimeric receptor for interleukin 18 (IL18), a proinflammatory cytokine involved in inducing cell-mediated immunity. This protein enhances the IL18-binding activity of the IL18 receptor and plays a role in signaling by IL18. Mutations in this gene are associated with Crohns disease and inflammatory bowel disease, and susceptibility to celiac disease and leprosy. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]
IL19	chr1	206798870	206842981	+	ENSG00000142224.15	protein_coding	IL-10C|MDA1|NG.1|ZMDA1	1q32.1	interleukin 19	The protein encoded by this gene is a cytokine that belongs to the IL10 cytokine subfamily. This cytokine is found to be preferentially expressed in monocytes. It can bind the IL20 receptor complex and lead to the activation of the signal transducer and activator of transcription 3 (STAT3). A similar cytokine in mouse is reported to up-regulate the expression of IL6 and TNF-alpha and induce apoptosis, which suggests a role of this cytokine in inflammatory responses. Alternatively spliced transcript variants encoding the distinct isoforms have been described. [provided by RefSeq, Jul 2008]
IL1A	chr2	112773915	112784590	-	ENSG00000115008.5	protein_coding	IL-1 alpha|IL-1A|IL1|IL1-ALPHA|IL1F1	2q14.1	interleukin 1 alpha	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macrophages as a proprotein, which is proteolytically processed and released in response to cell injury, and thus induces apoptosis. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimers disease. [provided by RefSeq, Jul 2008]
IL1B	chr2	112829751	112836903	-	ENSG00000125538.11	protein_coding	IL-1|IL1-BETA|IL1F2|IL1beta	2q14.1	interleukin 1 beta	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytokine is an important mediator of the inflammatory response, and is involved in a variety of cellular activities, including cell proliferation, differentiation, and apoptosis. The induction of cyclooxygenase-2 (PTGS2/COX2) by this cytokine in the central nervous system (CNS) is found to contribute to inflammatory pain hypersensitivity. Similarly, IL-1B has been implicated in human osteoarthritis pathogenesis. Patients with severe Coronavirus Disease 2019 (COVID-19) present elevated levels of pro-inflammatory cytokines such as IL-1B in bronchial alveolar lavage fluid samples. The lung damage induced by the Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is to a large extent, a result of the inflammatory response promoted by cytokines such as IL-1B. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. [provided by RefSeq, Jul 2020]
IL1F10	chr2	113067970	113075850	+	ENSG00000136697.12	protein_coding	FIL1-theta|FKSG75|IL-1HY2|IL-38|IL1-theta|IL1HY2	2q14.1	interleukin 1 family member 10	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. This cytokine is thought to participate in a network of interleukin 1 family members to regulate adapted and innate immune responses. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
IL1R1	chr2	102064544	102179874	+	ENSG00000115594.11	protein_coding	CD121A|D2S1473|IL-1R-alpha|IL1R|IL1RA|P80	2q11.2-q12.1	interleukin 1 receptor type 1	This gene encodes a cytokine receptor that belongs to the interleukin-1 receptor family. The encoded protein is a receptor for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 receptor antagonist. It is an important mediator involved in many cytokine-induced immune and inflammatory responses. This gene is located in a cluster of related cytokine receptor genes on chromosome 2q12. [provided by RefSeq, Dec 2013]
IL1R2	chr2	101991844	102028544	+	ENSG00000115590.13	protein_coding	CD121b|CDw121b|IL-1R-2|IL-1RT-2|IL-1RT2|IL1R2c|IL1RB	2q11.2	interleukin 1 receptor type 2	The protein encoded by this gene is a cytokine receptor that belongs to the interleukin 1 receptor family. This protein binds interleukin alpha (IL1A), interleukin beta (IL1B), and interleukin 1 receptor, type I(IL1R1/IL1RA), and acts as a decoy receptor that inhibits the activity of its ligands. Interleukin 4 (IL4) is reported to antagonize the activity of interleukin 1 by inducing the expression and release of this cytokine. This gene and three other genes form a cytokine receptor gene cluster on chromosome 2q12. Alternative splicing results in multiple transcript variants and protein isoforms. Alternative splicing produces both membrane-bound and soluble proteins. A soluble protein is also produced by proteolytic cleavage. [provided by RefSeq, May 2012]
IL1RAP	chr3	190514051	190659750	+	ENSG00000196083.9	protein_coding	C3orf13|IL-1RAcP|IL1R3	3q28	interleukin 1 receptor accessory protein	This gene encodes a component of the interleukin 1 receptor complex, which initiates signalling events that result in the activation of interleukin 1-responsive genes. Alternative splicing of this gene results in membrane-bound and soluble isoforms differing in their C-terminus. The ratio of soluble to membrane-bound forms increases during acute-phase induction or stress. [provided by RefSeq, Jul 2018]
IL1RL1	chr2	102311502	102352037	+	ENSG00000115602.16	protein_coding	DER4|FIT-1|IL33R|ST2|ST2L|ST2V|T1	2q12.1	interleukin 1 receptor like 1	The protein encoded by this gene is a member of the interleukin 1 receptor family. Studies of the similar gene in mouse suggested that this receptor can be induced by proinflammatory stimuli, and may be involved in the function of helper T cells. This gene, interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2) and interleukin 1 receptor-like 2 (IL1RL2) form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
IL1RL2	chr2	102186973	102240002	+	ENSG00000115598.9	protein_coding	IL-1Rrp2|IL-36R|IL1R-rp2|IL1RRP2	2q12.1	interleukin 1 receptor like 2	The protein encoded by this gene is a member of the interleukin 1 receptor family. An experiment with transient gene expression demonstrated that this receptor was incapable of binding to interleukin 1 alpha and interleukin 1 beta with high affinity. This gene and four other interleukin 1 receptor family genes, including interleukin 1 receptor, type I (IL1R1), interleukin 1 receptor, type II (IL1R2), interleukin 1 receptor-like 1 (IL1RL1), and interleukin 18 receptor 1 (IL18R1), form a cytokine receptor gene cluster in a region mapped to chromosome 2q12. [provided by RefSeq, Jul 2008]
IL1RN	chr2	113107214	113134016	+	ENSG00000136689.18	protein_coding	DIRA|ICIL-1RA|IL-1RN|IL-1ra|IL-1ra3|IL1F3|IL1RA|IRAP|MVCD4	2q14.1	interleukin 1 receptor antagonist	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This protein inhibits the activities of interleukin 1, alpha (IL1A) and interleukin 1, beta (IL1B), and modulates a variety of interleukin 1 related immune and inflammatory responses, particularly in the acute phase of infection and inflammation. This gene and five other closely related cytokine genes form a gene cluster spanning approximately 400 kb on chromosome 2. A polymorphism of this gene is reported to be associated with increased risk of osteoporotic fractures and gastric cancer. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2020]
IL2	chr4	122451470	122456725	-	ENSG00000109471.4	protein_coding	IL-2|TCGF|lymphokine	4q27	interleukin 2	This gene is a member of the interleukin 2 (IL2) cytokine subfamily which includes IL4, IL7, IL9, IL15, IL21, erythropoietin, and thrombopoietin. The protein encoded by this gene is a secreted cytokine produced by activated CD4+ and CD8+ T lymphocytes, that is important for the proliferation of T and B lymphocytes. The receptor of this cytokine (IL2R) is a heterotrimeric protein complex whose gamma chain is also shared by IL4 and IL7. The expression of this gene in mature thymocytes is monoallelic, which represents an unusual regulatory mode for controlling the precise expression of a single gene. The targeted disruption of a similar gene in mice leads to ulcerative colitis-like disease, which suggests an essential role of this gene in the immune response to antigenic stimuli. [provided by RefSeq, Sep 2020]
IL20	chr1	206865354	206869223	+	ENSG00000162891.10	protein_coding	IL-20|IL10D|ZCYTO10	1q32.1	interleukin 20	The protein encoded by this gene is a cytokine structurally related to interleukin 10 (IL10). This cytokine has been shown to transduce its signal through signal transducer and activator of transcription 3 (STAT3) in keratinocytes. A specific receptor for this cytokine is found to be expressed in skin and upregulated dramatically in psoriatic skin, suggesting a role for this protein in epidermal function and psoriasis. [provided by RefSeq, Jul 2008]
IL20RA	chr6	136999971	137045180	-	ENSG00000016402.13	protein_coding	CRF2-8|IL-20R-alpha|IL-20R1|IL-20RA	6q23.3	interleukin 20 receptor subunit alpha	This gene encodes a member of the type II cytokine receptor family. The encoded protein is a subunit of the receptor for interleukin 20, a cytokine that may be involved in epidermal function. The interleukin 20 receptor is a heterodimeric complex consisting of the encoded protein and interleukin 20 receptor beta. This gene and interleukin 20 receptor beta are highly expressed in skin, and are upregulated in psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
IL20RB	chr3	136946230	137011085	+	ENSG00000174564.12	protein_coding	DIRS1|FNDC6|IL-20R2	3q22.3	interleukin 20 receptor subunit beta	IL20RB and IL20RA (MIM 605620) form a heterodimeric receptor for interleukin-20 (IL20; MIM 605619) (Blumberg et al., 2001 [PubMed 11163236]).[supplied by OMIM, Feb 2009]
IL20RB-AS1	chr3	136959125	136982196	-	ENSG00000249407.1	antisense	-	3q22.3	IL20RB antisense RNA 1	-
IL21-AS1	chr4	122618983	122689156	+	ENSG00000227145.1	antisense	-	4q27	IL21 antisense RNA 1	-
IL21R	chr16	27402162	27452042	+	ENSG00000103522.15	protein_coding	CD360|IMD56|NILR	16p12.1	interleukin 21 receptor	The protein encoded by this gene is a cytokine receptor for interleukin 21 (IL21). It belongs to the type I cytokine receptors, and has been shown to form a heterodimeric receptor complex with the common gamma-chain, a receptor subunit also shared by the receptors for interleukin 2, 4, 7, 9, and 15. This receptor transduces the growth promoting signal of IL21, and is important for the proliferation and differentiation of T cells, B cells, and natural killer (NK) cells. The ligand binding of this receptor leads to the activation of multiple downstream signaling molecules, including JAK1, JAK3, STAT1, and STAT3. Knockout studies of a similar gene in mouse suggest a role for this gene in regulating immunoglobulin production. Three alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]
IL22RA1	chr1	24119771	24143121	-	ENSG00000142677.3	protein_coding	CRF2-9|IL22R|IL22R1	1p36.11	interleukin 22 receptor subunit alpha 1	The protein encoded by this gene belongs to the class II cytokine receptor family, and has been shown to be a receptor for interleukin 22 (IL22). IL22 receptor is a protein complex that consists of this protein and interleukin 10 receptor, beta (IL10BR/CRFB4), a subunit also shared by the receptor complex for interleukin 10 (IL10). This gene and interleukin 28 receptor, alpha (IL28RA) form a cytokine receptor gene cluster in the chromosomal region 1p36. [provided by RefSeq, Jul 2008]
IL23A	chr12	56334174	56340410	+	ENSG00000110944.8	protein_coding	IL-23|IL-23A|IL23P19|P19|SGRF	12q13.3	interleukin 23 subunit alpha	This gene encodes a subunit of the heterodimeric cytokine interleukin 23 (IL23). IL23 is composed of this protein and the p40 subunit of interleukin 12 (IL12B). The receptor of IL23 is formed by the beta 1 subunit of IL12 (IL12RB1) and an IL23 specific subunit, IL23R. Both IL23 and IL12 can activate the transcription activator STAT4, and stimulate the production of interferon-gamma (IFNG). In contrast to IL12, which acts mainly on naive CD4(+) T cells, IL23 preferentially acts on memory CD4(+) T cells. [provided by RefSeq, Jul 2008]
IL23R	chr1	67138907	67259979	+	ENSG00000162594.15	protein_coding	-	1p31.3	interleukin 23 receptor	Low expression observed in reference dataset
IL24	chr1	206897443	206904139	+	ENSG00000162892.15	protein_coding	C49A|FISP|IL10B|MDA7|MOB5|ST16	1q32.1	interleukin 24	This gene encodes a member of the IL10 family of cytokines. It was identified as a gene induced during terminal differentiation in melanoma cells. The protein encoded by this gene can induce apoptosis selectively in various cancer cells. Overexpression of this gene leads to elevated expression of several GADD family genes, which correlates with the induction of apoptosis. The phosphorylation of mitogen-activated protein kinase 14 (MAPK7/P38), and heat shock 27kDa protein 1 (HSPB2/HSP27) are found to be induced by this gene in melanoma cells, but not in normal immortal melanocytes. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
IL25	chr14	23372809	23376403	+	ENSG00000166090.8	protein_coding	IL17E	14q11.2	interleukin 25	The protein encoded by this gene is a cytokine that shares sequence similarity with interleukin 17. This cytokine can induce NF-kappaB activation, and stimulate the production of interleukin 8. Both this cytokine and interleukin 17B are ligands for the cytokine receptor IL17BR. Studies of a similar gene in mice suggest that this cytokine may be a pro-inflammatory cytokine favoring the Th2-type immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
IL27	chr16	28499362	28512051	-	ENSG00000197272.2	protein_coding	IL-27|IL-27A|IL27A|IL27p28|IL30|p28	16p12.1-p11.2	interleukin 27	The protein encoded by this gene is one of the subunits of a heterodimeric cytokine complex. This protein is related to interleukin 12A (IL12A). It interacts with Epstein-Barr virus induced gene 3 (EBI3), a protein similar to interleukin 12B (IL12B), and forms a complex that has been shown to drive rapid expansion of naive but not memory CD4(+) T cells. The complex is also found to synergize strongly with interleukin 12 to trigger interferon gamma (IFNG) production of naive CD4(+) T cells. The biological effects of this cytokine are mediated by the class I cytokine receptor (WSX1/TCRR). [provided by RefSeq, Jul 2008]
IL27RA	chr19	14031748	14053216	+	ENSG00000104998.3	protein_coding	CRL1|IL-27RA|IL27R|TCCR|WSX1|zcytor1	19p13.12	interleukin 27 receptor subunit alpha	In mice, CD4+ helper T-cells differentiate into type 1 (Th1) cells, which are critical for cell-mediated immunity, predominantly under the influence of IL12. Also, IL4 influences their differentiation into type 2 (Th2) cells, which are critical for most antibody responses. Mice deficient in these cytokines, their receptors, or associated transcription factors have impaired, but are not absent of, Th1 or Th2 immune responses. This gene encodes a protein which is similar to the mouse T-cell cytokine receptor Tccr at the amino acid level, and is predicted to be a glycosylated transmembrane protein. [provided by RefSeq, Jul 2008]
IL2RA	chr10	6010689	6062325	-	ENSG00000134460.15	protein_coding	CD25|IDDM10|IL2R|IMD41|TCGFR|p55	10p15.1	interleukin 2 receptor subunit alpha	The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2RB) chains produce a medium-affinity receptor. Normally an integral-membrane protein, soluble IL2RA has been isolated and determined to result from extracellular proteolyisis. Alternately-spliced IL2RA mRNAs have been isolated, but the significance of each is presently unknown. Mutations in this gene are associated with interleukin 2 receptor alpha deficiency. Patients with severe Coronavirus Disease 2019 (COVID-19), the disease caused by the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), have significantly elevated levels of IL2R in their plasma. Similarly, serum IL-2R levels are found to be elevated in patients with different types of carcinomas. Certain IL2RA and IL2RB gene polymorphisms have been associated with lung cancer risk. [provided by RefSeq, Jul 2020]
IL2RB	chr22	37125838	37175054	-	ENSG00000100385.13	protein_coding	CD122|IL15RB|IMD63|P70-75	22q12.3	interleukin 2 receptor subunit beta	The interleukin 2 receptor, which is involved in T cell-mediated immune responses, is present in 3 forms with respect to ability to bind interleukin 2. The low affinity form is a monomer of the alpha subunit and is not involved in signal transduction. The intermediate affinity form consists of an alpha/beta subunit heterodimer, while the high affinity form consists of an alpha/beta/gamma subunit heterotrimer. Both the intermediate and high affinity forms of the receptor are involved in receptor-mediated endocytosis and transduction of mitogenic signals from interleukin 2. The protein encoded by this gene represents the beta subunit and is a type I membrane protein. The use of alternative promoters results in multiple transcript variants encoding the same protein. The protein is primarily expressed in the hematopoietic system. The use by some variants of an alternate promoter in an upstream long terminal repeat (LTR) results in placenta-specific expression. [provided by RefSeq, Sep 2016]
IL31RA	chr5	55851379	55922853	+	ENSG00000164509.13	protein_coding	CRL|CRL3|GLM-R|GLMR|GPL|IL-31RA|PLCA2|PRO21384|hGLM-R|zcytoR17	5q11.2	interleukin 31 receptor A	The protein encoded by this gene belongs to the type I cytokine receptor family. This receptor, with homology to gp130, is expressed on monocytes, and is involved in IL-31 signaling via activation of STAT-3 and STAT-5. It functions either as a monomer, or as part of a receptor complex with oncostatin M receptor (OSMR). Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011]
IL32	chr16	3065297	3082192	+	ENSG00000008517.16	protein_coding	IL-32alpha|IL-32beta|IL-32delta|IL-32gamma|NK4|TAIF|TAIFa|TAIFb|TAIFc|TAIFd	16p13.3	interleukin 32	This gene encodes a member of the cytokine family. The protein contains a tyrosine sulfation site, 3 potential N-myristoylation sites, multiple putative phosphorylation sites, and an RGD cell-attachment sequence. Expression of this protein is increased after the activation of T-cells by mitogens or the activation of NK cells by IL-2. This protein induces the production of TNFalpha from macrophage cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
IL33	chr9	6215786	6257983	+	ENSG00000137033.11	protein_coding	C9orf26|DVS27|IL1F11|NF-HEV|NFEHEV	9p24.1	interleukin 33	The protein encoded by this gene is a cytokine that binds to the IL1RL1/ST2 receptor. The encoded protein is involved in the maturation of Th2 cells and the activation of mast cells, basophils, eosinophils and natural killer cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
IL34	chr16	70579895	70660682	+	ENSG00000157368.10	protein_coding	C16orf77|IL-34	16q22.1	interleukin 34	Interleukin-34 is a cytokine that promotes the differentiation and viability of monocytes and macrophages through the colony-stimulating factor-1 receptor (CSF1R; MIM 164770) (Lin et al., 2008 [PubMed 18467591]).[supplied by OMIM, May 2008]
IL36B	chr2	113022091	113052867	-	ENSG00000136696.10	protein_coding	FIL1|FIL1-(ETA)|FIL1H|FILI-(ETA)|IL-1F8|IL-1H2|IL1-ETA|IL1F8|IL1H2	2q14.1	interleukin 36 beta	The protein encoded by this gene is a member of the interleukin 1 cytokine family. Protein structure modeling indicated that this cytokine may contain a 12-stranded beta-trefoil structure that is conserved between IL1A (IL-A alpha) and IL1B (IL-1 beta). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
IL36G	chr2	112973203	112985665	+	ENSG00000136688.10	protein_coding	IL-1F9|IL-1H1|IL-1RP2|IL1E|IL1F9|IL1H1|IL1RP2	2q14.1	interleukin 36 gamma	The protein encoded by this gene is a member of the interleukin 1 cytokine family. The activity of this cytokine is mediated by interleukin 1 receptor-like 2 (IL1RL2/IL1R-rp2), and is specifically inhibited by interleukin 1 family, member 5 (IL1F5/IL-1 delta). Interferon-gamma, tumor necrosis factor-alpha and interleukin 1, beta (IL1B) are reported to stimulate the expression of this cytokine in keratinocytes. The expression of this cytokine in keratinocytes can also be induced by a contact hypersensitivity reaction or herpes simplex virus infection. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. [provided by RefSeq, May 2019]
IL36RN	chr2	113058638	113065382	+	ENSG00000136695.14	protein_coding	FIL1|FIL1(DELTA)|FIL1D|IL-36Ra|IL1F5|IL1HY1|IL1L1|IL1RP3|IL36RA|PSORP|PSORS14	2q14.1	interleukin 36 receptor antagonist	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine was shown to specifically inhibit the activation of NF-kappaB induced by interleukin 1 family, member 6 (IL1F6). This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Two alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
IL37	chr2	112912971	112918882	+	ENSG00000125571.9	protein_coding	FIL1|FIL1(ZETA)|FIL1Z|IL-1F7|IL-1H|IL-1H4|IL-1RP1|IL-23|IL-37|IL1F7|IL1H4|IL1RP1	2q14.1	interleukin 37	The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine can bind to, and may be a ligand for interleukin 18 receptor (IL18R1/IL-1Rrp). This cytokine also binds to interleukin 18 binding protein (IL18BP), an inhibitory binding protein of interleukin 18 (IL18), and subsequently forms a complex with IL18 receptor beta subunit, and through which it inhibits the activity of IL18. This gene along with eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. Five alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
IL4	chr5	132673986	132682676	+	ENSG00000113520.10	protein_coding	BCGF-1|BCGF1|BSF-1|BSF1|IL-4	5q31.1	interleukin 4	The protein encoded by this gene is a pleiotropic cytokine produced by activated T cells. This cytokine is a ligand for interleukin 4 receptor. The interleukin 4 receptor also binds to IL13, which may contribute to many overlapping functions of this cytokine and IL13. STAT6, a signal transducer and activator of transcription, has been shown to play a central role in mediating the immune regulatory signal of this cytokine. This gene, IL3, IL5, IL13, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL13. This gene, IL13 and IL5 are found to be regulated coordinately by several long-range regulatory elements in an over 120 kilobase range on the chromosome. IL4 is considered an important cytokine for tissue repair, counterbalancing the effects of proinflammatory type 1 cytokines, however, it also promotes allergic airway inflammation. Moreover, IL-4, a type 2 cytokine, mediates and regulates a variety of human host responses such as allergic, anti-parasitic, wound healing, and acute inflammation. This cytokine has been reported to promote resolution of neutrophil-mediated acute lung injury. In an allergic response, IL-4 has an essential role in the production of allergen-specific immunoglobin (Ig) E. This pro-inflammatory cytokine has been observed to be increased in COVID-19 (Coronavirus disease 2019) patients, but is not necessarily associated with severe COVID-19 pathology. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Aug 2020]
IL4I1	chr19	49889654	49929539	-	ENSG00000104951.15	protein_coding	FIG1|LAAO|LAO|hIL4I1	19q13.33	interleukin 4 induced 1	This gene encodes a secreted L-amino acid oxidase protein which primarily catabolizes L-phenylalanine and, to a lesser extent, L-arginine. The expression of this gene is induced by the cytokine interleukin 4 in B cells. This gene is also expressed in macrophages and dendritic cells. This protein may play a role immune system escape as it is expressed in tumor-associated macrophages and suppresses T-cell responses. This protein also contains domains thought to be involved in the binding of flavin adenine dinucleotide (FAD) cofactor. Multiple transcript variants encoding different isoforms have been found for this gene. Some transcripts of this gene share a promoter and exons of the 5 UTR with the overlapping NUP62 gene. [provided by RefSeq, Jul 2020]
IL4R	chr16	27313668	27364778	+	ENSG00000077238.13	protein_coding	CD124|IL-4RA|IL4RA	16p12.1	interleukin 4 receptor	This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
IL5	chr5	132541444	132556838	-	ENSG00000113525.9	protein_coding	EDF|IL-5|TRF	5q31.1	interleukin 5	This gene encodes a cytokine that acts as a growth and differentiation factor for both B cells and eosinophils. The encoded cytokine plays a major role in the regulation of eosinophil formation, maturation, recruitment and survival. The increased production of this cytokine may be related to pathogenesis of eosinophil-dependent inflammatory diseases. This cytokine functions by binding to its receptor, which is a heterodimer, whose beta subunit is shared with the receptors for interleukine 3 (IL3) and colony stimulating factor 2 (CSF2/GM-CSF). This gene is located on chromosome 5 within a cytokine gene cluster which includes interleukin 4 (IL4), interleukin 13 (IL13), and CSF2 . This gene, IL4, and IL13 may be regulated coordinately by long-range regulatory elements spread over 120 kilobases on chromosome 5q31. [provided by RefSeq, Jul 2013]
IL5RA	chr3	3066326	3126613	-	ENSG00000091181.19	protein_coding	CD125|CDw125|HSIL5R3|IL5R	3p26.2	interleukin 5 receptor subunit alpha	The protein encoded by this gene is an interleukin 5 specific subunit of a heterodimeric cytokine receptor. The receptor is comprised of a ligand specific alpha subunit and a signal transducing beta subunit shared by the receptors for interleukin 3 (IL3), colony stimulating factor 2 (CSF2/GM-CSF), and interleukin 5 (IL5). The binding of this protein to IL5 depends on the beta subunit. The beta subunit is activated by the ligand binding, and is required for the biological activities of IL5. This protein has been found to interact with syndecan binding protein (syntenin), which is required for IL5 mediated activation of the transcription factor SOX4. Several alternatively spliced transcript variants encoding four distinct isoforms have been reported. [provided by RefSeq, Jul 2011]
IL6	chr7	22725884	22732002	+	ENSG00000136244.11	protein_coding	BSF-2|BSF2|CDF|HGF|HSF|IFN-beta-2|IFNB2|IL-6	7p15.3	interleukin 6	This gene encodes a cytokine that functions in inflammation and the maturation of B cells. In addition, the encoded protein has been shown to be an endogenous pyrogen capable of inducing fever in people with autoimmune diseases or infections. The protein is primarily produced at sites of acute and chronic inflammation, where it is secreted into the serum and induces a transcriptional inflammatory response through interleukin 6 receptor, alpha. The functioning of this gene is implicated in a wide variety of inflammation-associated disease states, including suspectibility to diabetes mellitus and systemic juvenile rheumatoid arthritis. Elevated levels of the encoded protein have been found in virus infections, including COVID-19 (disease caused by SARS-CoV-2). [provided by RefSeq, Aug 2020]
IL6R	chr1	154405193	154469450	+	ENSG00000160712.12	protein_coding	CD126|HIES5|IL-1Ra|IL-6R|IL-6R-1|IL-6RA|IL6Q|IL6QTL|IL6RA|IL6RQ|gp80	1q21.3	interleukin 6 receptor	This gene encodes a subunit of the interleukin 6 (IL6) receptor complex. Interleukin 6 is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in the immune response. The IL6 receptor is a protein complex consisting of this protein and interleukin 6 signal transducer (IL6ST/GP130/IL6-beta), a receptor subunit also shared by many other cytokines. Dysregulated production of IL6 and this receptor are implicated in the pathogenesis of many diseases, such as multiple myeloma, autoimmune diseases and prostate cancer. Alternatively spliced transcript variants encoding distinct isoforms have been identified in this gene. A pseudogene of this gene is found on chromosome 9. [provided by RefSeq, Aug 2020]
IL6ST	chr5	55935095	55994993	-	ENSG00000134352.19	protein_coding	CD130|CDW130|GP130|HIES4|IL-6RB|sGP130	5q11.2	interleukin 6 cytokine family signal transducer	The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggest that this gene plays a critical role in regulating myocyte apoptosis. Alternatively spliced transcript variants have been described. A related pseudogene has been identified on chromosome 17. [provided by RefSeq, May 2014]
IL7	chr8	78675743	78805523	-	ENSG00000104432.13	protein_coding	IL-7	8q21.13	interleukin 7	The protein encoded by this gene is a cytokine important for B and T cell development. This cytokine and the hepatocyte growth factor (HGF) form a heterodimer that functions as a pre-pro-B cell growth-stimulating factor. IL7 is found to be a cofactor for V(D)J rearrangement of the T cell receptor beta (TCRB) during early T cell development. This cytokine can be produced locally by intestinal epithelial and epithelial goblet cells, and may serve as a regulatory factor for intestinal mucosal lymphocytes. IL7 plays an essential role in lymphoid cell survival, and in the maintenance of naive and memory T cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their presence in normal tissues has not been confirmed. Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection can be a potent inducer of proinflammatory cytokines and chemokines which may defend against the infection, but may also mediate destructive lung injury. Elevated serum IL7 levels, together with several other circulating cytokines and chemokines, has been found to be associated with the severity of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Jul 2020]
IL7R	chr5	35852695	35879603	+	ENSG00000168685.14	protein_coding	CD127|CDW127|IL-7R-alpha|IL7RA|ILRA	5p13.2	interleukin 7 receptor	The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found. [provided by RefSeq, Dec 2015]
IL9RP3	chr16	29336	38321	-	ENSG00000226942.2	unprocessed_pseudogene	-	16p13.3	interleukin 9 receptor pseudogene 3	-
ILDR1	chr3	121987323	122022204	-	ENSG00000145103.12	protein_coding	DFNB42|ILDR1alpha|ILDR1alpha'|ILDR1beta	3q13.33	immunoglobulin like domain containing receptor 1	This gene encodes a protein that contains an immunoglobulin-like domain. The encoded protein may function as a multimeric receptor at the cell surface. The expression of this gene may be a diagnostic marker for cancer progression. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
ILF2	chr1	153661788	153671048	-	ENSG00000143621.16	protein_coding	NF45|PRO3063	1q21.3	interleukin enhancer binding factor 2	The protein encoded by this gene is a transcription factor required for T-cell expression of the interleukin 2 gene. It also binds RNA and is an essential component for encapsidation and protein priming of hepatitis B viral polymerase. The encoded 45 kDa protein (NF45, ILF2) forms a complex with the 90 kDa interleukin enhancer-binding factor 3 (NF90, ILF3), and this complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm, to repair DNA breaks by nonhomologous end joining, and to negatively regulate the microRNA processing pathway. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. Alternative splicing results in multiple transcript variants. Related pseudogenes have been found on chromosomes 3 and 14. [provided by RefSeq, Dec 2014]
ILF3	chr19	10654261	10692417	+	ENSG00000129351.17	protein_coding	CBTF|DRBF|DRBP76|MMP4|MPHOSPH4|MPP4|MPP4110|NF-AT-90|NF110|NF110b|NF90|NF90a|NF90b|NF90c|NF90ctv|NFAR|NFAR-1|NFAR-2|NFAR110|NFAR2|NFAR90|TCP110|TCP80	19p13.2	interleukin enhancer binding factor 3	This gene encodes a double-stranded RNA (dsRNA) binding protein that complexes with other proteins, dsRNAs, small noncoding RNAs, and mRNAs to regulate gene expression and stabilize mRNAs. This protein (NF90, ILF3) forms a heterodimer with a 45 kDa transcription factor (NF45, ILF2) required for T-cell expression of interleukin 2. This complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. In contrast, an isoform (NF110) of this gene that is predominantly restricted to the nucleus has only minor effects on cell growth when its levels are reduced. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2014]
ILF3-DT	chr19	 10651862	10653872	-	ENSG00000267100	ncRNA	ILF3-AS1	19p13.2	ILF3 divergent transcript	-
ILK	chr11	6603708	6610874	+	ENSG00000166333.13	protein_coding	HEL-S-28|ILK-1|ILK-2|P59|p59ILK	11p15.4	integrin linked kinase	This gene encodes a protein with a kinase-like domain and four ankyrin-like repeats. The encoded protein associates at the cell membrane with the cytoplasmic domain of beta integrins, where it regulates integrin-mediated signal transduction. Activity of this protein is important in the epithelial to mesenchymal transition, and over-expression of this gene is implicated in tumor growth and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
ILKAP	chr2	238170401	238203729	-	ENSG00000132323.8	protein_coding	ILKAP2|ILKAP3|PP2C-DELTA|PP2CD|PPM1O	2q37.3	ILK associated serine/threonine phosphatase	The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq, Jul 2008]
ILRUN	chr6	 34587288	34696767	-	ENSG00000196821	protein-coding	C6orf106|FP852|dJ391O22.4	6p21.31	inflammation and lipid regulator with UBA-like and NBR1-like domains	This gene encodes a protein with N-terminal ubiquitin-associated (UBA)-like and central neighbor of BRCA1 gene 1 (NBR1)-like domains. The protein acts an inhibitor of antiviral and proinflammatory cytokine transcription and as a regulator of the renin-angiotensin-aldosterone system (RAAS). [provided by RefSeq, Jul 2021]
ILVBL	chr19	15114984	15125785	-	ENSG00000105135.15	protein_coding	209L8|AHAS|HACL1L|ILV2H	19p13.12	ilvB acetolactate synthase like	The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes that catalyze the first step in branched-chain amino acid biosynthesis. [provided by RefSeq, Jul 2008]
IMMP1L	chr11	31432401	31509645	-	ENSG00000148950.9	protein_coding	IMMP1|IMP1|IMP1-LIKE	11p13	inner mitochondrial membrane peptidase subunit 1	The mitochondrial inner membrane peptidase (IMP) complex generates mature, active proteins in the mitochondrial intermembrane space by proteolytically removing the mitochondrial targeting presequence of nuclear-encoded proteins. IMP1 and IMP2 (IMMP2L; MIM 605977) are the catalytic subunits of the IMP complex (Burri et al., 2005 [PubMed 15814844]).[supplied by OMIM, Sep 2008]
IMMP2L	chr7	110663051	111562517	-	ENSG00000184903.9	protein_coding	IMMP2L-IT1|IMP2|IMP2-LIKE	7q31.1	inner mitochondrial membrane peptidase subunit 2	This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of the necessary proteins for the catalytic activity of the mitochondrial inner membrane peptidase (IMP) complex. Two variants that encode the same protein have been described for this gene. [provided by RefSeq, Sep 2011]
IMMT	chr2	86143932	86195770	-	ENSG00000132305.20	protein_coding	HMP|MICOS60|MINOS2|Mic60|P87|P87/89|P89|PIG4|PIG52	2p11.2|2	inner membrane mitochondrial protein	Ubiquitous expression in heart (RPKM 51.0), adrenal (RPKM 34.2) and 25 other tissues
IMP3	chr15	75639085	75648706	-	ENSG00000177971.8	protein_coding	BRMS2|C15orf12|MRPS4	15q24.2	IMP U3 small nucleolar ribonucleoprotein 3	This gene encodes the human homolog of the yeast Imp3 protein. The protein localizes to the nucleoli and interacts with the U3 snoRNP complex. The protein contains an S4 domain. [provided by RefSeq, Jul 2008]
IMP4	chr2	130342225	130347810	+	ENSG00000136718.9	protein_coding	BXDC4	2q21.1	IMP U3 small nucleolar ribonucleoprotein 4	The protein encoded by this gene, along with IMP3 and MPP10, is part of the 60-80S U3 small nucleolar ribonucleoprotein (U3 snoRNP) complex. This complex is necessary for the early cleavage steps of pre-18S ribosomal RNA processing. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
IMPA1	chr8	81657961	81686693	-	ENSG00000133731.9	protein_coding	IMP|IMPA|MRT59	8q21.13	inositol monophosphatase 1	This gene encodes an enzyme that dephosphorylates myo-inositol monophosphate to generate free myo-inositol, a precursor of phosphatidylinositol, and is therefore an important modulator of intracellular signal transduction via the production of the second messengers myoinositol 1,4,5-trisphosphate and diacylglycerol. This enzyme can also use myo-inositol-1,3-diphosphate, myo-inositol-1,4-diphosphate, scyllo-inositol-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2-AMP as substrates. This enzyme shows magnesium-dependent phosphatase activity and is inhibited by therapeutic concentrations of lithium. Inhibition of inositol monophosphate hydroylosis and subsequent depletion of inositol for phosphatidylinositol synthesis may explain the anti-manic and anti-depressive effects of lithium administered to treat bipolar disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A pseudogene of this gene is also present on chromosome 8q21.13. [provided by RefSeq, Dec 2014]
IMPA2	chr18	11981025	12030883	+	ENSG00000141401.11	protein_coding	-	18p11.21	inositol monophosphatase 2	Broad expression in kidney (RPKM 73.3), skin (RPKM 38.8) and 18 other tissues
IMPACT	chr18	24426616	24453535	+	ENSG00000154059.9	protein_coding	RWDD5	18q11.2	impact RWD domain protein	Ubiquitous expression in thyroid (RPKM 17.1), testis (RPKM 17.0) and 25 other tissues
IMPDH1	chr7	128392277	128410252	-	ENSG00000106348.16	protein_coding	IMPD|IMPD1|IMPDH-I|LCA11|RP10|sWSS2608	7q32.1	inosine monophosphate dehydrogenase 1	The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
IMPDH1P5	chr10	77780337	77781876	-	ENSG00000213513.3	processed_pseudogene	-	10q22.3	inosine monophosphate dehydrogenase 1 pseudogene 5	-
IMPDH1P8	chr3	15878047	15879571	+	ENSG00000224728.1	processed_pseudogene	-	3p25.1	inosine monophosphate dehydrogenase 1 pseudogene 8	-
IMPDH2	chr3	49024325	49029408	-	ENSG00000178035.11	protein_coding	IMPD2|IMPDH-II	3p21.31	inosine monophosphate dehydrogenase 2	This gene encodes the rate-limiting enzyme in the de novo guanine nucleotide biosynthesis. It is thus involved in maintaining cellular guanine deoxy- and ribonucleotide pools needed for DNA and RNA synthesis. The encoded protein catalyzes the NAD-dependent oxidation of inosine-5-monophosphate into xanthine-5-monophosphate, which is then converted into guanosine-5-monophosphate. This gene is up-regulated in some neoplasms, suggesting it may play a role in malignant transformation. [provided by RefSeq, Jul 2008]
IMPG1	chr6	75921115	76072678	-	ENSG00000112706.11	protein_coding	GP147|IPM150|RP91|SPACR|VMD4	6q14.1	interphotoreceptor matrix proteoglycan 1	This gene encodes a protein that is a major component of the retinal interphotoreceptor matrix. The encoded protein is a proteoglycan that is thought to play a role in maintaining viability of photoreceptor cells and in adhesion of the neural retina to the retinal pigment epithelium. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
IMPG2	chr3	101222546	101320560	-	ENSG00000081148.11	protein_coding	IPM200|RP56|SPACRCAN|VMD5	3q12.3	interphotoreceptor matrix proteoglycan 2	The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photoreceptor outer segment. Defects in this gene are a cause of retinitis pigmentosa type 56 and maculopathy, IMPG2-related.[provided by RefSeq, Mar 2011]
INA	chr10	103277163	103290351	+	ENSG00000148798.10	protein_coding	NEF5|NF-66|NF66|TXBP-1	10q24.33	internexin neuronal intermediate filament protein alpha	Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene is a member of the intermediate filament family and is involved in the morphogenesis of neurons. [provided by RefSeq, Jun 2009]
INAFM1	chr19	47274453	47275707	+	ENSG00000257704.3	protein_coding	PRR24	19q13.32	InaF motif containing 1	Ubiquitous expression in adrenal (RPKM 12.5), endometrium (RPKM 9.8) and 25 other tissues
INAFM2	chr15	40323664	40326715	+	ENSG00000259330.2	protein_coding	LINC00984|OGU1	15q15.1	InaF motif containing 2	Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
INAVA	chr1	 200891531	200915742	+	ENSG00000163362	protein-coding	C1orf106	1q32.1	innate immunity activator	Biased expression in small intestine (RPKM 20.8), duodenum (RPKM 17.6) and 11 other tissues
INCA1	chr17	4988130	4997610	-	ENSG00000196388.8	protein_coding	HSD45	17p13.2	inhibitor of CDK, cyclin A1 interacting protein 1	Broad expression in testis (RPKM 10.5), prostate (RPKM 1.7) and 21 other tissues
INCENP	chr11	62123973	62153163	+	ENSG00000149503.12	protein_coding	-	11q12.3	inner centromere protein	Ubiquitous expression in bone marrow (RPKM 6.2), esophagus (RPKM 5.2) and 24 other tissues
INF2	chr14	104689606	104722535	+	ENSG00000203485.12	protein_coding	C14orf151|C14orf173|CMTDIE|FSGS5|pp9484	14q32.33	inverted formin 2	This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]
ING1	chr13	110712736	110723339	+	ENSG00000153487.12	protein_coding	p24ING1c|p33|p33ING1|p33ING1b|p47|p47ING1a	13q34	inhibitor of growth family member 1	This gene encodes a tumor suppressor protein that can induce cell growth arrest and apoptosis. The encoded protein is a nuclear protein that physically interacts with the tumor suppressor protein TP53 and is a component of the p53 signaling pathway. Reduced expression and rearrangement of this gene have been detected in various cancers. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
ING2	chr4	183504994	183511096	+	ENSG00000168556.6	protein_coding	ING1L|p33ING2	4q35.1	inhibitor of growth family member 2	This gene is a member of the inhibitor of growth (ING) family. Members of the ING family associate with and modulate the activity of histone acetyltransferase (HAT) and histone deacetylase (HDAC) complexes and function in DNA repair and apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
ING3	chr7	120950749	120977216	+	ENSG00000071243.15	protein_coding	Eaf4|ING2|MEAF4|p47ING3	7q31.31	inhibitor of growth family member 3	The protein encoded by this gene is similar to ING1, a tumor suppressor protein that can interact with TP53, inhibit cell growth, and induce apoptosis. This protein contains a PHD-finger, which is a common motif in proteins involved in chromatin remodeling. This gene can activate p53 trans-activated promoters, including promoters of p21/waf1 and bax. Overexpression of this gene has been shown to inhibit cell growth and induce apoptosis. Allelic loss and reduced expression of this gene were detected in head and neck cancers. Two alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2008]
ING5	chr2	241687085	241729478	+	ENSG00000168395.15	protein_coding	p28ING5	2q37.3	inhibitor of growth family member 5	This gene encodes a tumor suppressor protein that inhibits cell growth and induces apoptosis. This protein contains a PHD-type zinc finger. It interacts with tumor suppressor p53 and p300, a component of the histone acetyl transferase complex, suggesting a role in transcriptional regulation. Alternative splicing and the use of multiple promoters and 3 terminal exons results in multiple transcript variants. [provided by RefSeq, Aug 2016]
INHA	chr2	219569162	219575713	+	ENSG00000123999.4	protein_coding	-	2q35	inhibin subunit alpha	Biased expression in testis (RPKM 55.0), adrenal (RPKM 22.2) and 2 other tissues
INHBA	chr7	41667168	41705834	-	ENSG00000122641.10	protein_coding	EDF|FRP	7p14.1	inhibin subunit beta A	This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate a subunit of the dimeric activin and inhibin protein complexes. These complexes activate and inhibit, respectively, follicle stimulating hormone secretion from the pituitary gland. The encoded protein also plays a role in eye, tooth and testis development. Elevated expression of this gene may be associated with cancer cachexia in human patients. [provided by RefSeq, Aug 2016]
INHBB	chr2	120346143	120351808	+	ENSG00000163083.5	protein_coding	-	2q14.2	inhibin subunit beta B	Biased expression in fat (RPKM 16.6), testis (RPKM 13.1) and 13 other tissues
INHBC	chr12	57434760	57450828	+	ENSG00000175189.3	protein_coding	IHBC	12q13.3	inhibin subunit beta C	This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate a subunit of homodimeric and heterodimeric activin complexes. The heterodimeric complex may function in the inhibition of activin A signaling. Transgenic mice overexpressing this gene exhibit defects in testis, liver and prostate. [provided by RefSeq, Aug 2016]
INHBE	chr12	57452323	57459280	+	ENSG00000139269.2	protein_coding	-	12q13.3	inhibin subunit beta E	Restricted expression toward liver (RPKM 43.7)
INKA1	chr3	 49803261	49805030	+	ENSG00000185614	protein-coding	C3orf54|FAM212A	3p21.31	inka box actin regulator 1	Broad expression in skin (RPKM 6.6), lung (RPKM 3.2) and 23 other tissues
INKA2	chr1	 111722064	111755797	-	ENSG00000197852	protein-coding	C1orf183|FAM212B	1p13.2	inka box actin regulator 2	Ubiquitous expression in brain (RPKM 6.5), heart (RPKM 3.4) and 23 other tissues
INKA2-AS1	chr1	 111739841	111747798	+	ENSG00000227811	ncRNA	FAM212B-AS1	1p13.2	INKA2 antisense RNA 1	Broad expression in placenta (RPKM 1.6), brain (RPKM 0.9) and 16 other tissues
INMT	chr7	30697985	30757602	+	ENSG00000241644.2	protein_coding	TEMT	7p14.3	indolethylamine N-methyltransferase	N-methylation of endogenous and xenobiotic compounds is a major method by which they are degraded. This gene encodes an enzyme that N-methylates indoles such as tryptamine. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream MINDY4 (aka FAM188B) gene. In rodents and other mammals such as cetartiodactyla this gene is in the opposite orientation compared to its orientation in human and other primates and this gene appears to have been lost in carnivora and chiroptera. [provided by RefSeq, Jul 2019]
INO80	chr15	40978880	41116354	-	ENSG00000128908.15	protein_coding	INO80A|INOC1	15q15.1	INO80 complex ATPase subunit	This gene encodes a subunit of the chromatin remodeling complex, which is classified into subfamilies depending on sequence features apart from the conserved ATPase domain. This protein is the catalytic ATPase subunit of the INO80 chromatin remodeling complex, which is characterized by a DNA-binding domain. This protein is proposed to bind DNA and be recruited by the YY1 transcription factor to activate certain genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
INO80B	chr2	74455023	74457960	+	ENSG00000115274.14	protein_coding	HMGA1L4|HMGIYL4|IES2|PAP-1BP|PAPA-1|PAPA1|ZNHIT4|hIes2	2p13.1	INO80 complex subunit B	This gene encodes a subunit of an ATP-dependent chromatin remodeling complex, INO80, which plays a role in DNA and nucleosome-activated ATPase activity and ATP-dependent nucleosome sliding. Readthrough transcription of this gene into the neighboring downstream gene, which encodes WW domain-binding protein 1, generates a non-coding transcript. [provided by RefSeq, Feb 2011]
INO80C	chr18	35452230	35497991	-	ENSG00000153391.15	protein_coding	C18orf37|IES6|hIes6	18q12.2	INO80 complex subunit C	Broad expression in testis (RPKM 20.7), esophagus (RPKM 7.5) and 24 other tissues
INO80D	chr2	205993721	206086303	-	ENSG00000114933.15	protein_coding	-	2q33.3	INO80 complex subunit D	-
INO80E	chr16	29995294	30005793	+	ENSG00000169592.14	protein_coding	CCDC95	16p11.2	INO80 complex subunit E	Ubiquitous expression in testis (RPKM 18.0), spleen (RPKM 15.7) and 25 other tissues
INPP1	chr2	190343470	190371665	+	ENSG00000151689.12	protein_coding	-	2q32.2	inositol polyphosphate-1-phosphatase	Ubiquitous expression in testis (RPKM 21.9), esophagus (RPKM 18.0) and 24 other tissues
INPP4A	chr2	98444854	98594390	+	ENSG00000040933.15	protein_coding	INPP4|TVAS1	2q11.2	inositol polyphosphate-4-phosphatase type I A	This gene encodes an Mg++ independent enzyme that hydrolyzes the 4-position phosphate from the inositol ring of phosphatidylinositol 3,4-bisphosphate, inositol 1,3,4-trisphosphate, and inositol 3,4-bisphosphate. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2008]
INPP4B	chr4	142023160	142847432	-	ENSG00000109452.12	protein_coding	-	4q31.21	inositol polyphosphate-4-phosphatase type II B	Ubiquitous expression in lymph node (RPKM 4.4), urinary bladder (RPKM 4.1) and 24 other tissues
INPP5A	chr10	132537820	132783480	+	ENSG00000068383.18	protein_coding	5PTASE	10q26.3	inositol polyphosphate-5-phosphatase A	The protein encoded by this gene is a membrane-associated type I inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. [provided by RefSeq, Jul 2008]
INPP5B	chr1	37860697	37947057	-	ENSG00000204084.12	protein_coding	5PTase	1p34.3	inositol polyphosphate-5-phosphatase B	This gene encodes a member of a family of inositol polyphosphate-5-phosphatases. These enzymes function in the regulation of calcium signaling by inactivating inositol phosphates. The encoded protein is localized to the cytosol and mitochondria, and associates with membranes through an isoprenyl modification near the C-terminus. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2014]
INPP5D	chr2	233059967	233207903	+	ENSG00000168918.13	protein_coding	SHIP|SHIP-1|SHIP1|SIP-145|hp51CN|p150Ship	2q37.1	inositol polyphosphate-5-phosphatase D	This gene is a member of the inositol polyphosphate-5-phosphatase (INPP5) family and encodes a protein with an N-terminal SH2 domain, an inositol phosphatase domain, and two C-terminal protein interaction domains. Expression of this protein is restricted to hematopoietic cells where its movement from the cytosol to the plasma membrane is mediated by tyrosine phosphorylation. At the plasma membrane, the protein hydrolyzes the 5 phosphate from phosphatidylinositol (3,4,5)-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, thereby affecting multiple signaling pathways. The protein is also partly localized to the nucleus, where it may be involved in nuclear inositol phosphate signaling processes. Overall, the protein functions as a negative regulator of myeloid cell proliferation and survival. Mutations in this gene are associated with defects and cancers of the immune system. Deficiencies in the encoded protein, SHIP1, have been associated with Inflammatory Bowel Disease types such as Crohns Disease and Ulcerative Colitis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2020]
INPP5E	chr9	136428619	136439823	-	ENSG00000148384.12	protein_coding	CORS1|CPD4|JBTS1|MORMS|PPI5PIV|pharbin	9q34.3	inositol polyphosphate-5-phosphatase E	The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
INPP5F	chr10	119726097	119829278	+	ENSG00000198825.12	protein_coding	MSTP007|MSTPO47|SAC2|hSAC2	10q26.11	inositol polyphosphate-5-phosphatase F	The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
INPP5J	chr22	31122731	31134696	+	ENSG00000185133.13	protein_coding	INPP5|PIB5PA|PIPP	22q12.2	inositol polyphosphate-5-phosphatase J	Biased expression in thyroid (RPKM 63.8), small intestine (RPKM 7.6) and 4 other tissues
INPP5K	chr17	1494571	1516888	-	ENSG00000132376.19	protein_coding	MDCCAID|PPS|SKIP	17p13.3	inositol polyphosphate-5-phosphatase K	This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
INPPL1	chr11	72223701	72239105	+	ENSG00000165458.13	protein_coding	OPSMD|SHIP2	11q13.4	inositol polyphosphate phosphatase like 1	The protein encoded by this gene is an SH2-containing 5-inositol phosphatase that is involved in the regulation of insulin function. The encoded protein also plays a role in the regulation of epidermal growth factor receptor turnover and actin remodelling. Additionally, this gene supports metastatic growth in breast cancer and is a valuable biomarker for breast cancer. [provided by RefSeq, Jan 2009]
INS	chr11	2159779	2161341	-	ENSG00000254647.6	protein_coding	IDDM|IDDM1|IDDM2|ILPR|IRDN|MODY10|PNDM4	11p15.5	insulin	This gene encodes insulin, a peptide hormone that plays a vital role in the regulation of carbohydrate and lipid metabolism. After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified, including insulin-dependent diabetes mellitus, permanent neonatal diabetes diabetes mellitus, maturity-onset diabetes of the young type 10 and hyperproinsulinemia. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5 region and with the IGF2 gene at the 3 region. [provided by RefSeq, May 2020]
INSC	chr11	15112424	15247208	+	ENSG00000188487.11	protein_coding	-	11p15.2	INSC spindle orientation adaptor protein	Low expression observed in reference dataset
INSIG1	chr7	155297776	155310235	+	ENSG00000186480.12	protein_coding	CL6	7q36.3	insulin induced gene 1	This gene encodes an endoplasmic reticulum membrane protein that regulates cholesterol metabolism, lipogenesis, and glucose homeostasis. The encoded protein has six transmembrane helices which contain an effector protein binding site. It binds the sterol-sensing domains of sterol regulatory element-binding protein (SREBP) cleavage-activating protein (SCAP) and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMG-CoA reductase), and is essential for the sterol-mediated trafficking of these two proteins. It promotes the endoplasmic reticulum retention of SCAP and the ubiquitin-mediated degradation of HMG-CoA reductase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
INSIG2	chr2	118088452	118110997	+	ENSG00000125629.14	protein_coding	INSIG-2	2q14.1-q14.2	insulin induced gene 2	The protein encoded by this gene is highly similar to the protein product encoded by gene INSIG1. Both INSIG1 protein and this protein are endoplasmic reticulum proteins that block the processing of sterol regulatory element binding proteins (SREBPs) by binding to SREBP cleavage-activating protein (SCAP), and thus prevent SCAP from escorting SREBPs to the Golgi. [provided by RefSeq, Jul 2008]
INSL3	chr19	17816512	17821574	-	ENSG00000248099.3	protein_coding	RLF|RLNL|ley-I-L	19p13.11	insulin like 3	This gene encodes a member of the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies of the mouse counterpart suggest that this gene may be involved in the development of urogenital tract and female fertility. This protein may also act as a hormone to regulate growth and differentiation of gubernaculum, and thus mediating intra-abdominal testicular descent. Mutations in this gene may lead to cryptorchidism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
INSL5	chr1	66797741	66801256	-	ENSG00000172410.4	protein_coding	PRO182|UNQ156	1p31.3	insulin like 5	The protein encoded by this gene contains a classical signature of the insulin superfamily and is highly similar to relaxin 3 (RLN3/INSL7). [provided by RefSeq, Jul 2008]
INSL6	chr9	5131979	5185668	-	ENSG00000120210.6	protein_coding	RIF1	9p24.1	insulin like 6	The protein encoded by this gene contains a classical signature of the insulin superfamily and is significantly similar to relaxin and relaxin-like factor. This gene is preferentially expressed in testis. Its expression in testis is restricted to interstitial cells surrounding seminiferous tubules, which suggests a role in sperm development and fertilization. [provided by RefSeq, Jul 2008]
INSM1	chr20	20368121	20370949	+	ENSG00000173404.4	protein_coding	IA-1|IA1	20p11.23	INSM transcriptional repressor 1	Insulinoma-associated 1 (INSM1) gene is intronless and encodes a protein containing both a zinc finger DNA-binding domain and a putative prohormone domain. This gene is a sensitive marker for neuroendocrine differentiation of human lung tumors. [provided by RefSeq, Jul 2008]
INSM2	chr14	35534042	35537054	+	ENSG00000168348.3	protein_coding	IA-6|IA6|mlt1	14q13.2	INSM transcriptional repressor 2	-
INSR	chr19	7112255	7294034	-	ENSG00000171105.13	protein_coding	CD220|HHF5	19p13.2	insulin receptor	This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
INSRR	chr1	156840063	156859018	-	ENSG00000027644.4	protein_coding	IRR	1q23.1	insulin receptor related receptor	Biased expression in kidney (RPKM 1.2), testis (RPKM 1.1) and 5 other tissues
INSYN1	chr15	 73735458	73753351	-	ENSG00000205363	protein-coding	C15orf59	15q24.1	inhibitory synaptic factor 1	Biased expression in brain (RPKM 6.6), heart (RPKM 2.3) and 12 other tissues
INSYN1-AS1	chr15	 73768086	73769802	+	-	ncRNA	C15orf59-AS1	15q24.1	INSYN1 antisense RNA 1	-
INSYN2A	chr10	 127135430	127196591	-	ENSG00000188916	protein-coding	C10orf141|FAM196A|INSYN2	10q26.2	inhibitory synaptic factor 2A	Predicted to be involved in inhibitory postsynaptic potential. Predicted to be active in postsynaptic density. [provided by Alliance of Genome Resources, Apr 2022]
INTS1	chr7	1470277	1504367	-	ENSG00000164880.15	protein_coding	INT1|NDCAGF|NET28	7p22.3	integrator complex subunit 1	INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
INTS10	chr8	19817140	19852083	+	ENSG00000104613.11	protein_coding	C8orf35|INT10	8p21.3	integrator complex subunit 10	INTS10 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
INTS11	chr1	1311585	1324691	-	ENSG00000127054.20	protein_coding	CPSF3L|CPSF73L|INT11|RC-68|RC68	1p36.33	integrator complex subunit 11	The Integrator complex contains at least 12 subunits and associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates the 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690). INTS11, or CPSF3L, is the catalytic subunit of the Integrator complex (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
INTS12	chr4	105682627	105895986	-	ENSG00000138785.14	protein_coding	INT12|PHF22|SBBI22	4q24	integrator complex subunit 12	INTS12 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
INTS14	chr15	65578753	65611289	-	ENSG00000138614.14	protein_coding	C15orf44|VWA9	15q22.31	integrator complex subunit 14	Ubiquitous expression in thyroid (RPKM 12.8), testis (RPKM 11.6) and 25 other tissues
INTS2	chr17	61865367	61928016	-	ENSG00000108506.11	protein_coding	INT2|KIAA1287	17q23.2	integrator complex subunit 2	INTS2 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
INTS3	chr1	153728067	153774808	+	ENSG00000143624.13	protein_coding	C1orf193|C1orf60|INT3|SOSS-A|SOSSA	1q21.3	integrator complex subunit 3	The protein encoded by this gene can form a complex with human single-strand DNA binding proteins 1 or 2 (hSSB1 and hSSB2) and other proteins to mediate genome stability and the DNA damage response. The encoded protein is also part of a multiprotein complex that interacts with the C-terminal domain of RNA polymerase II large subunit to help regulate processing of U1 and U2 small nuclear RNAs. [provided by RefSeq, May 2016]
INTS4	chr11	77878720	77994678	-	ENSG00000149262.16	protein_coding	INT4|MST093	11q14.1	integrator complex subunit 4	INTS4 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
INTS4P1	chr7	65141225	65234216	+	ENSG00000164669.12	transcribed_unprocessed_pseudogene	INTS4L1	7q11.21	integrator complex subunit 4 pseudogene 1	Ubiquitous expression in testis (RPKM 4.2), appendix (RPKM 2.9) and 25 other tissues
INTS5	chr11	62646848	62653302	-	ENSG00000185085.2	protein_coding	INT5|KIAA1698	11q12.3	integrator complex subunit 5	The Integrator complex is a complex that associates with the C-terminal domain of RNA polymerase II large subunit. This complex is brought to U1 and U2 small nuclear RNA genes, where it is involved in the transcription and processing of their transcripts. The protein encoded by this gene represents a subunit of the Integrator complex. [provided by RefSeq, Aug 2016]
INTS6	chr13	51354077	51454264	-	ENSG00000102786.14	protein_coding	DBI-1|DDX26|DDX26A|DICE1|HDB|INT6|Notchl2	13q14.3	integrator complex subunit 6	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. The protein encoded by this gene is a DEAD box protein that is part of a complex that interacts with the C-terminus of RNA polymerase II and is involved in 3 end processing of snRNAs. In addition, this gene is a candidate tumor suppressor and is located in the critical region of loss of heterozygosity (LOH). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2015]
INTS7	chr1	211940399	212035542	-	ENSG00000143493.12	protein_coding	C1orf73|INT7	1q32.3	integrator complex subunit 7	This gene encodes a subunit of the integrator complex. The integrator complex associates with the C-terminal domain of RNA polymerase II and mediates 3-end processing of the small nuclear RNAs U1 and U2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
INTS8	chr8	94813311	94881746	+	ENSG00000164941.13	protein_coding	C8orf52|INT8|NEDCHS	8q22.1	integrator complex subunit 8	This gene encodes a subunit of the Integrator complex which is involved in the cleavage of small nuclear RNAs U1 and U2 within the nucleus. The encoded protein associates with RNA polymerase II and is recruited to the U1 and U2 small nuclear RNA genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
INTS9	chr8	28767661	28890242	-	ENSG00000104299.14	protein_coding	CPSF2L|INT9|RC74	8p21.1	integrator complex subunit 9	This gene encodes a subunit of the Integrator complex. This protein complex binds the C-terminal domain of RNA polymerase II and likely plays a role in small nuclear RNA processing. The encoded protein has similarities to the subunits of the cleavage and polyadenylation specificity factor complex. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
INVS	chr9	100099256	100301000	+	ENSG00000119509.12	protein_coding	INV|NPH2|NPHP2	9q31.1	inversin	This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012]
IP6K1	chr3	49724294	49786542	-	ENSG00000176095.11	protein_coding	IHPK1|PiUS	3p21.31	inositol hexakisphosphate kinase 1	This gene encodes a member of the inositol phosphokinase family. The encoded protein may be responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]
IP6K2	chr3	48688003	48740353	-	ENSG00000068745.14	protein_coding	IHPK2|InsP6K2|PIUS	3p21.31	inositol hexakisphosphate kinase 2	This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4 and affect the growth suppressive and apoptotic activities of interferon-beta in some ovarian cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
IP6K3	chr6	33721670	33746905	-	ENSG00000161896.11	protein_coding	IHPK3|INSP6K3	6p21.31	inositol hexakisphosphate kinase 3	This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]
IPCEF1	chr6	154154496	154356792	-	ENSG00000074706.13	protein_coding	PIP3-E	6q25.2	interaction protein for cytohesin exchange factors 1	Biased expression in thyroid (RPKM 13.5), brain (RPKM 6.8) and 9 other tissues
IPMK	chr10	58191517	58267934	-	ENSG00000151151.5	protein_coding	-	10q21.1	inositol polyphosphate multikinase	Ubiquitous expression in colon (RPKM 5.2), small intestine (RPKM 4.9) and 25 other tissues
IPO11	chr5	62403972	62628582	+	ENSG00000086200.16	protein_coding	RanBP11	5q12.1	importin 11	Importins, including IPO11, are a members of the karyopherin/importin-beta family of transport receptors (see KPNB1; 602738) that mediate nucleocytoplasmic transport of protein and RNA cargoes (Plafker and Macara, 2000 [PubMed 11032817]).[supplied by OMIM, Sep 2008]
IPO13	chr1	43946939	43968022	+	ENSG00000117408.10	protein_coding	IMP13|KAP13|LGL2|RANBP13	1p34.1	importin 13	This gene encodes a member of the importin-beta family of nuclear transport proteins. The encoded protein mediates the import of specific cargo proteins from the cytoplasm to the nucleus and is dependent on the Ras-related nuclear protein-GTPase system. The encoded protein is also involved in nuclear export of the eukaryotic translation initiation factor 1A.[provided by RefSeq, Mar 2009]
IPO7	chr11	9384622	9448126	+	ENSG00000205339.9	protein_coding	Imp7|RANBP7	11p15.4	importin 7	The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. Similar to importin-beta, this protein prevents the activation of Rans GTPase by RanGAP1 and inhibits nucleotide exchange on RanGTP, and also binds directly to nuclear pore complexes where it competes for binding sites with importin-beta and transportin. This protein has a Ran-dependent transport cycle and it can cross the nuclear envelope rapidly and in both directions. At least four importin beta-like transport receptors, namely importin beta itself, transportin, RanBP5 and RanBP7, directly bind and import ribosomal proteins. [provided by RefSeq, Jul 2008]
IPO8	chr12	30628988	30695986	-	ENSG00000133704.9	protein_coding	RANBP8|VISS	12p11.21	importin 8	The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
IPO9	chr1	201829141	201884294	+	ENSG00000198700.9	protein_coding	Imp9	1q32.1	importin 9	Ubiquitous expression in brain (RPKM 7.6), thyroid (RPKM 6.7) and 25 other tissues
IPO9-AS1	chr1	201688259	201829559	-	ENSG00000231871.5	antisense	-	1q32.1	IPO9 antisense RNA 1	-
IPP	chr1	45694324	45750650	-	ENSG00000197429.10	protein_coding	KLHL27	1p34.1	intracisternal A particle-promoted polypeptide	The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 50 amino acid repeat which interacts with actin. Transcript variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
IPPK	chr9	92613184	92670265	-	ENSG00000127080.9	protein_coding	C9orf12|INSP5K2|IP5K|IPK1|bA476B13.1	9q22.31	inositol-pentakisphosphate 2-kinase	The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010]
IQANK1	chr8	 143734139	143790645	+	ENSG00000203499	protein-coding	FAM83H-AS1|FAM83HAS1|onco-lncRNA-3	8q24.3	IQ motif and ankyrin repeat containing 1	Predicted to be involved in regulation of barbed-end actin filament capping. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
IQCA1	chr2	236324147	236507542	-	ENSG00000132321.16	protein_coding	4930465P12Rik|DRC11|IQCA	2q37.2-q37.3	IQ motif containing with AAA domain 1	The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
IQCB1	chr3	121769763	121835079	-	ENSG00000173226.16	protein_coding	NPHP5|PIQ|SLSN5	3q13.33|3q21.1	IQ motif containing B1	This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Jan 2016]
IQCB2P	chr6	28010723	28012355	+	ENSG00000217539.2	processed_pseudogene	IQCB1P1|dJ313I6.1	6p22.1	IQ motif containing B2 pseudogene	-
IQCC	chr1	32205661	32208687	+	ENSG00000160051.11	protein_coding	-	1p35.2	IQ motif containing C	-
IQCE	chr7	2558972	2614734	+	ENSG00000106012.17	protein_coding	1700028P05Rik|PAPA7	7p22.3	IQ motif containing E	Broad expression in testis (RPKM 11.3), brain (RPKM 6.8) and 24 other tissues
IQCF2	chr3	51861629	51863424	+	ENSG00000184345.4	protein_coding	-	3p21.2	IQ motif containing F2	-
IQCF6	chr3	51778561	51779187	-	ENSG00000214686.4	protein_coding	-	3p21.2	IQ motif containing F6	-
IQCH	chr15	67254800	67502260	+	ENSG00000103599.19	protein_coding	NYDSP5	15q23	IQ motif containing H	Biased expression in testis (RPKM 4.7), thyroid (RPKM 1.3) and 5 other tissues
IQCH-AS1	chr15	67403619	67521844	-	ENSG00000259673.5	lincRNA	-	15q23	IQCH antisense RNA 1	-
IQCJ-SCHIP1	chr3	158962235	159897366	+	ENSG00000283154.2	protein_coding	-	3q25.32-q25.33	IQCJ-SCHIP1 readthrough	Broad expression in brain (RPKM 44.2), heart (RPKM 26.4) and 14 other tissues
IQCJ-SCHIP1-AS1	chr3	159765387	159768612	-	ENSG00000241211.1	antisense	uaz98	3q25.33	IQCJ-SCHIP1 readthrough antisense RNA 1	Low expression observed in reference dataset
IQCK	chr16	19716456	19858467	+	ENSG00000174628.16	protein_coding	-	16p12.3	IQ motif containing K	Broad expression in brain (RPKM 34.9), testis (RPKM 17.8) and 17 other tissues
IQCN	chr19	 18257098	18274452	-	ENSG00000130518	protein-coding	KIAA1683	19p13.11	IQ motif containing N	Biased expression in testis (RPKM 15.0), lung (RPKM 1.4) and 4 other tissues
IQGAP1	chr15	90388218	90502243	+	ENSG00000140575.12	protein_coding	HUMORFA01|SAR1|p195	15q26.1	IQ motif containing GTPase activating protein 1	This gene encodes a member of the IQGAP family. The protein contains four IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. Expression of the protein is upregulated by gene amplification in two gastric cancer cell lines. [provided by RefSeq, Jul 2008]
IQGAP2	chr5	76403249	76708132	+	ENSG00000145703.15	protein_coding	-	5q13.3	IQ motif containing GTPase activating protein 2	Broad expression in liver (RPKM 36.3), duodenum (RPKM 28.2) and 21 other tissues
IQGAP3	chr1	156525405	156572604	-	ENSG00000183856.10	protein_coding	-	1q22	IQ motif containing GTPase activating protein 3	-
IQSEC1	chr3	12897220	13073117	-	ENSG00000144711.13	protein_coding	ARF-GEP100|ARFGEP100|BRAG2|GEP100|IDDSSBA	3p25.2-p25.1	IQ motif and Sec7 domain ArfGEF 1	Ubiquitous expression in brain (RPKM 17.9), bone marrow (RPKM 13.3) and 25 other tissues
IQSEC3	chr12	66765	178460	+	ENSG00000120645.11	protein_coding	-	12p13.33	IQ motif and Sec7 domain ArfGEF 3	-
IQUB	chr7	123452400	123535077	-	ENSG00000164675.10	protein_coding	-	7q31.32	IQ motif and ubiquitin domain containing	-
IRAG1	chr11	 10573095	10693755	-	ENSG00000072952	protein-coding	IRAG|JAW1L|MRVI1	11p15.4	inositol 1,4,5-triphosphate receptor associated 1	-
IRAG1-AS1	chr11	 10541236	10599932	+	ENSG00000177112	ncRNA	MRVI1-AS1	11p15.4	IRAG1 antisense RNA 1	-
IRAG2	chr12	 24997575	25108335	+	ENSG00000118308	protein-coding	JAW1|LRMP	12p12.1	inositol 1,4,5-triphosphate receptor associated 2	-
IRAK1BP1	chr6	78867472	78946440	+	ENSG00000146243.13	protein_coding	AIP70|SIMPL	6q14.1	interleukin 1 receptor associated kinase 1 binding protein 1	Ubiquitous expression in testis (RPKM 2.2), thyroid (RPKM 1.5) and 25 other tissues
IRAK2	chr3	10164865	10243743	+	ENSG00000134070.4	protein_coding	IRAK-2	3p25.3	interleukin 1 receptor associated kinase 2	IRAK2 encodes the interleukin-1 receptor-associated kinase 2, one of two putative serine/threonine kinases that become associated with the interleukin-1 receptor (IL1R) upon stimulation. IRAK2 is reported to participate in the IL1-induced upregulation of NF-kappaB. [provided by RefSeq, Jul 2008]
IRAK3	chr12	66188879	66254622	+	ENSG00000090376.10	protein_coding	ASRT5|IRAKM	12q14.3	interleukin 1 receptor associated kinase 3	This gene encodes a member of the interleukin-1 receptor-associated kinase protein family. Members of this family are essential components of the Toll/IL-R immune signal transduction pathways. This protein is primarily expressed in monocytes and macrophages and functions as a negative regulator of Toll-like receptor signaling. Mutations in this gene are associated with a susceptibility to asthma. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
IRAK4	chr12	43758944	43789543	+	ENSG00000198001.13	protein_coding	IMD67|IPD1|IRAK-4|NY-REN-64|REN64	12q12	interleukin 1 receptor associated kinase 4	This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
IREB2	chr15	78437431	78501456	+	ENSG00000136381.12	protein_coding	ACO3|IRE-BP 2|IRE-BP2|IRP2|IRP2AD|NDCAMA	15q25.1	iron responsive element binding protein 2	The protein encoded by this gene is an RNA-binding protein that acts to regulate iron levels in the cells by regulating the translation and stability of mRNAs that affect iron homeostasis under conditions when iron is depleted. When iron levels are low, this protein binds to iron-responsive elements (IRES), stem-loop structures located either in the 5 or 3 UTRs. Binding to the 5 UTR represses translation, while binding to the 3 UTR inhibits mRNA degradation. When iron is found in the cell, this protein is degraded in a F-box and leucine rich repeat protein 5-dependent manner. Variants in this gene have been associated with lung cancer and chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]
IRF1	chr5	132481609	132490798	-	ENSG00000125347.13	protein_coding	IRF-1|MAR	5q31.1	interferon regulatory factor 1	The protein encoded by this gene is a transcriptional regulator and tumor suppressor, serving as an activator of genes involved in both innate and acquired immune responses. The encoded protein activates the transcription of genes involved in the bodys response to viruses and bacteria, playing a role in cell proliferation, apoptosis, the immune response, and DNA damage response. This protein represses the transcription of several other genes. As a tumor suppressor, it both suppresses tumor cell growth and stimulates an immune response against tumor cells. Defects in this gene have been associated with gastric cancer, myelogenous leukemia, and lung cancer. [provided by RefSeq, Aug 2017]
IRF1-AS1	chr5	 132410929	132476044	+	-	ncRNA	C5orf56	5q31.1	IRF1 antisense RNA 1	-
IRF2BP1	chr19	45883607	45886170	-	ENSG00000170604.4	protein_coding	-	19q13.32	interferon regulatory factor 2 binding protein 1	-
IRF2BP2	chr1	234604269	234609525	-	ENSG00000168264.10	protein_coding	CVID14	1q42.3	interferon regulatory factor 2 binding protein 2	This gene encodes an interferon regulatory factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
IRF2BPL	chr14	77024543	77028699	-	ENSG00000119669.4	protein_coding	C14orf4|EAP1|NEDAMSS	14q24.3	interferon regulatory factor 2 binding protein like	This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]
IRF3	chr19	49659569	49665875	-	ENSG00000126456.15	protein_coding	IIAE7	19q13.33	interferon regulatory factor 3	This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. The protein plays an important role in the innate immune response against DNA and RNA viruses. Mutations in this gene are associated with Encephalopathy, acute, infection-induced, herpes-specific, 7. [provided by RefSeq, Sep 2020]
IRF4	chr6	391739	411447	+	ENSG00000137265.14	protein_coding	LSIRF|MUM1|NF-EM5|SHEP8	6p25.3	interferon regulatory factor 4	The protein encoded by this gene belongs to the IRF (interferon regulatory factor) family of transcription factors, characterized by an unique tryptophan pentad repeat DNA-binding domain. The IRFs are important in the regulation of interferons in response to infection by virus, and in the regulation of interferon-inducible genes. This family member is lymphocyte specific and negatively regulates Toll-like-receptor (TLR) signaling that is central to the activation of innate and adaptive immune systems. A chromosomal translocation involving this gene and the IgH locus, t(6;14)(p25;q32), may be a cause of multiple myeloma. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2010]
IRF5	chr7	128937612	128950035	+	ENSG00000128604.19	protein_coding	SLEB10	7q32.1	interferon regulatory factor 5	This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Alternative promoter use and alternative splicing result in multiple transcript variants, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa segment. [provided by RefSeq, Dec 2016]
IRF6	chr1	209785623	209806175	-	ENSG00000117595.10	protein_coding	LPS|OFC6|PIT|PPS|PPS1|VWS|VWS1	1q32.2	interferon regulatory factor 6	This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011]
IRF7	chr11	612553	615999	-	ENSG00000185507.19	protein_coding	IMD39|IRF-7|IRF-7H|IRF7A|IRF7B|IRF7C|IRF7H	11p15.5	interferon regulatory factor 7	This gene encodes interferon regulatory factor 7, a member of the interferon regulatory transcription factor (IRF) family. It has been shown to play a role in the transcriptional activation of virus-inducible cellular genes, including interferon beta chain genes. Inducible expression of IRF7 is largely restricted to lymphoid tissue. The encoded protein plays an important role in the innate immune response against DNA and RNA viruses. [provided by RefSeq, Jul 2021]
IRF8	chr16	85898803	85922609	+	ENSG00000140968.10	protein_coding	H-ICSBP|ICSBP|ICSBP1|IMD32A|IMD32B|IRF-8	16q24.1	interferon regulatory factor 8	Interferon consensus sequence-binding protein (ICSBP) is a transcription factor of the interferon (IFN) regulatory factor (IRF) family. Proteins of this family are composed of a conserved DNA-binding domain in the N-terminal region and a divergent C-terminal region that serves as the regulatory domain. The IRF family proteins bind to the IFN-stimulated response element (ISRE) and regulate expression of genes stimulated by type I IFNs, namely IFN-alpha and IFN-beta. IRF family proteins also control expression of IFN-alpha and IFN-beta-regulated genes that are induced by viral infection. [provided by RefSeq, Jul 2008]
IRF9	chr14	24161053	24166565	+	ENSG00000213928.8	protein_coding	IRF-9|ISGF3|ISGF3G|p48	14q12	interferon regulatory factor 9	This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Mutations in this gene result in Immunodeficiency 65. [provided by RefSeq, Jul 2020]
IRGM	chr5	150846523	150900736	+	ENSG00000237693.4	protein_coding	IFI1|IRGM1|LRG-47|LRG47	5q33.1	immunity related GTPase M	This gene encodes a member of the p47 immunity-related GTPase family. The encoded protein may play a role in the innate immune response by regulating autophagy formation in response to intracellular pathogens. Polymorphisms that affect the normal expression of this gene are associated with a susceptibility to Crohns disease and tuberculosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2016]
IRGQ	chr19	43584369	43596135	-	ENSG00000167378.8	protein_coding	FKSG27|IRGQ1	19q13.31	immunity related GTPase Q	Ubiquitous expression in brain (RPKM 3.6), bone marrow (RPKM 3.5) and 25 other tissues
IRS1	chr2	226731317	226799759	-	ENSG00000169047.5	protein_coding	HIRS-1	2q36.3	insulin receptor substrate 1	This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]
IRS2	chr13	109752698	109786568	-	ENSG00000185950.8	protein_coding	IRS-2	13q34	insulin receptor substrate 2	This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a molecular adaptor between diverse receptor tyrosine kinases and downstream effectors. The product of this gene is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation, as well as by an interleukin 4 receptor-associated kinase in response to IL4 treatment. [provided by RefSeq, Jul 2008]
IRS3P	chr7	100570131	100571136	+	ENSG00000184414.2	processed_pseudogene	IRS3L	7q22.1	insulin receptor substrate 3, pseudogene	Predicted to enable phosphatidylinositol 3-kinase binding activity. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
IRS4	chrX	108732482	108736409	-	ENSG00000133124.11	protein_coding	CHNG9|IRS-4|PY160	Xq22.3	insulin receptor substrate 4	IRS4 encodes the insulin receptor substrate 4, a cytoplasmic protein that contains many potential tyrosine and serine/threonine phosphorylation sites. Tyrosine-phosphorylated IRS4 protein has been shown to associate with cytoplasmic signalling molecules that contain SH2 domains. The IRS4 protein is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation.. [provided by RefSeq, Jul 2008]
IRX1	chr5	3596054	3601403	+	ENSG00000170549.3	protein_coding	IRX-5|IRXA1	5p15.33	iroquois homeobox 1	This gene encodes a member of the Iroquois homeobox protein family. Homeobox genes in this family are involved in pattern formation in the embryo. The gene product has been identified as a tumor suppressor in gastric (PMID: 21602894, 20440264) and head and neck cancers (PMID: 18559491). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Dec 2011]
IRX3	chr16	54283304	54286763	-	ENSG00000177508.11	protein_coding	IRX-1|IRXB1	16q12.2	iroquois homeobox 3	IRX3 is a member of the Iroquois homeobox gene family (see IRX1; MIM 606197) and plays a role in an early step of neural development (Bellefroid et al., 1998 [PubMed 9427753]). Members of this family appear to play multiple roles during pattern formation of vertebrate embryos (Lewis et al., 1999 [PubMed 10370142]).[supplied by OMIM, Aug 2009]
IRX4	chr5	1877413	1887236	-	ENSG00000113430.9	protein_coding	IRXA3	5p15.33	iroquois homeobox 4	Biased expression in prostate (RPKM 2.5), skin (RPKM 2.0) and 3 other tissues
ISCA1	chr9	86264546	86283102	-	ENSG00000135070.14	protein_coding	HBLD2|ISA1|MMDS5|hIscA	9q21.33	iron-sulfur cluster assembly 1	ISCA1 is a mitochondrial protein involved in the biogenesis and assembly of iron-sulfur clusters, which play a role in electron-transfer reactions (Cozar-Castellano et al., 2004 [PubMed 15262227]).[supplied by OMIM, Mar 2008]
ISCA2	chr14	74493720	74497106	+	ENSG00000165898.13	protein_coding	HBLD1|ISA2|MMDS4|c14_5557	14q24.3	iron-sulfur cluster assembly 2	The protein encoded by this gene is an A-type iron-sulfur cluster (ISC) protein found in mitochondria. The encoded protein appears to be involved in the maturation of mitochondrial iron-sulfur proteins. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
ISCU	chr12	108562582	108569384	+	ENSG00000136003.15	protein_coding	2310020H20Rik|HML|ISU2|NIFU|NIFUN|hnifU	12q23.3	iron-sulfur cluster assembly enzyme	This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol or to the mitochondrion. Mutations in this gene have been found in patients with hereditary myopathy with lactic acidosis. A disease-associated mutation in an intron may activate a cryptic splice site, resulting in the production of a splice variant encoding a putatively non-functional protein. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Feb 2016]
ISG15	chr1	1001138	1014541	+	ENSG00000187608.8	protein_coding	G1P2|IFI15|IMD38|IP17|UCRP|hUCRP	1p36.33	ISG15 ubiquitin like modifier	The protein encoded by this gene is a ubiquitin-like protein that is conjugated to intracellular target proteins upon activation by interferon-alpha and interferon-beta. Several functions have been ascribed to the encoded protein, including chemotactic activity towards neutrophils, direction of ligated target proteins to intermediate filaments, cell-to-cell signaling, and antiviral activity during viral infections. While conjugates of this protein have been found to be noncovalently attached to intermediate filaments, this protein is sometimes secreted. [provided by RefSeq, Dec 2012]
ISG20	chr15	88636153	88656483	+	ENSG00000172183.14	protein_coding	CD25|HEM45	15q26.1	interferon stimulated exonuclease gene 20	Biased expression in lymph node (RPKM 12.2), spleen (RPKM 8.7) and 13 other tissues
ISG20L2	chr1	156721891	156728799	-	ENSG00000143319.16	protein_coding	HSD38	1q23.1	interferon stimulated exonuclease gene 20 like 2	This gene encodes a 3-5 exoribonuclease that may be involved in the processing of the 12S pre-rRNA. Pseudogenes have been identified on chromosomes 6 and 11. [provided by RefSeq, Dec 2014]
ISL1	chr5	51383391	51394738	+	ENSG00000016082.14	protein_coding	ISLET1|Isl-1	5q11.1	ISL LIM homeobox 1	This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene expression. The encoded protein is central to the development of pancreatic cell lineages and may also be required for motor neuron generation. Mutations in this gene have been associated with maturity-onset diabetes of the young. [provided by RefSeq, Jul 2008]
ISL2	chr15	76336724	76342476	+	ENSG00000159556.9	protein_coding	-	15q24.3	ISL LIM homeobox 2	Low expression observed in reference dataset
ISLR	chr15	74173671	74176872	+	ENSG00000129009.12	protein_coding	HsT17563|Meflin	15q24.1	immunoglobulin superfamily containing leucine rich repeat	Broad expression in endometrium (RPKM 88.5), ovary (RPKM 76.4) and 22 other tissues
ISLR2	chr15	74100311	74138540	+	ENSG00000167178.15	protein_coding	LINX	15q24.1	immunoglobulin superfamily containing leucine rich repeat 2	Biased expression in brain (RPKM 4.7), testis (RPKM 3.0) and 5 other tissues
ISM2	chr14	77474394	77498850	-	ENSG00000100593.17	protein_coding	TAIL1|THSD3	14q24.3	isthmin 2	The protein encoded by this gene contains a type 1 thrombospondin domain, which is present in thrombospondin, a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Mar 2009]
ISOC1	chr5	129094751	129114028	+	ENSG00000066583.11	protein_coding	CGI-111	5q23.3	isochorismatase domain containing 1	Ubiquitous expression in endometrium (RPKM 57.7), liver (RPKM 27.5) and 24 other tissues
ISOC2	chr19	55452985	55462343	-	ENSG00000063241.7	protein_coding	-	19q13.42	isochorismatase domain containing 2	-
IST1	chr16	71845996	71931199	+	ENSG00000182149.20	protein_coding	CHMP8|OLC1	16q22.2	IST1 factor associated with ESCRT-III	This gene encodes a protein with MIT-interacting motifs that interacts with components of endosomal sorting complexes required for transport (ESCRT). ESCRT functions in vesicle budding, such as that which occurs during membrane abscission in cytokinesis. There is a pseudogene for this gene on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
ISY1	chr3	129127415	129161293	-	ENSG00000240682.9	protein_coding	FSAP33	3q21.3	ISY1 splicing factor homolog	Enables RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in nucleus. Part of U2-type catalytic step 1 spliceosome and catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Apr 2022]
ISYNA1	chr19	18434388	18438301	-	ENSG00000105655.18	protein_coding	INO1|INOS|IPS|IPS 1|IPS-1	19p13.11	inositol-3-phosphate synthase 1	This gene encodes an inositol-3-phosphate synthase enzyme. The encoded protein plays a critical role in the myo-inositol biosynthesis pathway by catalyzing the rate-limiting conversion of glucose 6-phosphate to myoinositol 1-phosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011]
ITCH	chr20	34363235	34511393	+	ENSG00000078747.14	protein_coding	ADMFD|AIF4|AIP4|NAPP1	20q11.22	itchy E3 ubiquitin protein ligase	This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
ITCH-AS1	chr20	34441592	34442025	-	ENSG00000236388.1	antisense	-	20q11.22	ITCH antisense RNA 1	-
ITCH-IT1	chr20	34450930	34454552	+	ENSG00000231795.1	sense_intronic	-	20q11.22	ITCH intronic transcript 1	-
ITFG1	chr16	47154387	47464149	-	ENSG00000129636.12	protein_coding	2310047C21Rik|CDA08|LNKN-1|TIP	16q12.1	integrin alpha FG-GAP repeat containing 1	Ubiquitous expression in brain (RPKM 35.9), adrenal (RPKM 25.7) and 25 other tissues
ITFG2	chr12	2812622	2859791	+	ENSG00000111203.11	protein_coding	FGGAP1|KICS3|MDS028	12p13.33	integrin alpha FG-GAP repeat containing 2	Ubiquitous expression in thyroid (RPKM 9.5), ovary (RPKM 9.0) and 25 other tissues
ITGA1	chr5	52787896	52959210	+	ENSG00000213949.8	protein_coding	CD49a|VLA1	5q11.2	integrin subunit alpha 1	This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008]
ITGA11	chr15	68296533	68432162	-	ENSG00000137809.16	protein_coding	HsT18964	15q23	integrin subunit alpha 11	This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissue, dimerizes with beta 1 integrin in vitro, and appears to bind collagen in this form. Therefore, the protein may be involved in attaching muscle tissue to the extracellular matrix. Alternative transcriptional splice variants have been found for this gene, but their biological validity is not determined. [provided by RefSeq, Jul 2008]
ITGA2	chr5	52989326	53094779	+	ENSG00000164171.10	protein_coding	BR|CD49B|GPIa|HPA-5|VLA-2|VLAA2	5q11.2	integrin subunit alpha 2	This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
ITGA2B	chr17	44372180	44389505	-	ENSG00000005961.17	protein_coding	BDPLT16|BDPLT2|CD41|CD41B|GP2B|GPIIb|GT|GT1|GTA|HPA3|PPP1R93	17q21.31	integrin subunit alpha 2b	This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]
ITGA3	chr17	50055968	50090481	+	ENSG00000005884.17	protein_coding	CD49C|FRP-2|GAP-B3|GAPB3|ILNEB|MSK18|VCA-2|VL3A|VLA3a	17q21.33	integrin subunit alpha 3	The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function as cell surface adhesion molecules. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 3 subunit. This subunit joins with a beta 1 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. Expression of this gene may be correlated with breast cancer metastasis. [provided by RefSeq, Oct 2015]
ITGA4	chr2	181457202	181536187	+	ENSG00000115232.13	protein_coding	CD49D|IA4	2q31.3	integrin subunit alpha 4	The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 4 subunit. This subunit associates with a beta 1 or beta 7 subunit to form an integrin that may play a role in cell motility and migration. This integrin is a therapeutic target for the treatment of multiple sclerosis, Crohns disease and inflammatory bowel disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
ITGA5	chr12	54395261	54419460	-	ENSG00000161638.10	protein_coding	CD49e|FNRA|VLA-5|VLA5A	12q13.13	integrin subunit alpha 5	The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 5 subunit. This subunit associates with the beta 1 subunit to form a fibronectin receptor. This integrin may promote tumor invasion, and higher expression of this gene may be correlated with shorter survival time in lung cancer patients. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015]
ITGA6	chr2	172427354	172506282	+	ENSG00000091409.14	protein_coding	CD49f|ITGA6B|VLA-6	2q31.1	integrin subunit alpha 6	The gene encodes a member of the integrin alpha chain family of proteins. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 6 subunit. This subunit may associate with a beta 1 or beta 4 subunit to form an integrin that interacts with extracellular matrix proteins including members of the laminin family. The alpha 6 beta 4 integrin may promote tumorigenesis, while the alpha 6 beta 1 integrin may negatively regulate erbB2/HER2 signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
ITGA7	chr12	55684568	55716043	-	ENSG00000135424.15	protein_coding	-	12q13.2	integrin subunit alpha 7	Biased expression in fat (RPKM 86.9), heart (RPKM 53.0) and 9 other tissues
ITGA9	chr3	37452115	37823514	+	ENSG00000144668.11	protein_coding	ALPHA-RLC|ITGA4L|RLC	3p22.2	integrin subunit alpha 9	This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane glycoproteins composed of an alpha chain and a beta chain that mediate cell-cell and cell-matrix adhesion. The protein encoded by this gene, when bound to the beta 1 chain, forms an integrin that is a receptor for VCAM1, cytotactin and osteopontin. Expression of this gene has been found to be upregulated in small cell lung cancers. [provided by RefSeq, Jul 2008]
ITGA9-AS1	chr3	37745432	37861780	-	ENSG00000235257.8	processed_transcript	-	3p22.2	ITGA9 antisense RNA 1	-
ITGAD	chr16	31393312	31426505	+	ENSG00000156886.11	protein_coding	ADB2|CD11D	16p11.2	integrin subunit alpha D	This gene belongs to the beta-2 integrin family of membrane glycoproteins, which are are composed of non-covalently linked alpha and beta subunits to form a heterodimer. It encodes the alpha subunit of the cell surface heterodimers and is involved in the activation and adhesion functions of leukocytes. The gene is located about 11kb downstream of the integrin subunit alpha X gene, another member of the integrin family. It is expressed in the tissue and circulating myeloid leukocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
ITGAE	chr17	3714628	3801243	-	ENSG00000083457.11	protein_coding	CD103|HUMINAE	17p13.2	integrin subunit alpha E	Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage in the extracellular domain, yielding disulfide-linked heavy and light chains. In combination with the beta 7 integrin, this protein forms the E-cadherin binding integrin known as the human mucosal lymphocyte-1 antigen. This protein is preferentially expressed in human intestinal intraepithelial lymphocytes (IEL), and in addition to a role in adhesion, it may serve as an accessory molecule for IEL activation. [provided by RefSeq, Jul 2008]
ITGAL	chr16	30472658	30523185	+	ENSG00000005844.17	protein_coding	CD11A|LFA-1|LFA1A	16p11.2	integrin subunit alpha L	ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form the integrin lymphocyte function-associated antigen-1 (LFA-1), which is expressed on all leukocytes. LFA-1 plays a central role in leukocyte intercellular adhesion through interactions with its ligands, ICAMs 1-3 (intercellular adhesion molecules 1 through 3), and also functions in lymphocyte costimulatory signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ITGAM	chr16	31259990	31332892	+	ENSG00000169896.16	protein_coding	CD11B|CR3A|MAC-1|MAC1A|MO1A|SLEB6	16p11.2	integrin subunit alpha M	This gene encodes the integrin alpha M chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as macrophage receptor 1 (Mac-1), or inactivated-C3b (iC3b) receptor 3 (CR3). The alpha M beta 2 integrin is important in the adherence of neutrophils and monocytes to stimulated endothelium, and also in the phagocytosis of complement coated particles. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
ITGAV	chr2	186590065	186680901	+	ENSG00000138448.11	protein_coding	CD51|MSK8|VNRA|VTNR	2q32.1	integrin subunit alpha V	The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha V subunit. This subunit associates with beta 1, beta 3, beta 5, beta 6 and beta 8 subunits. The heterodimer consisting of alpha V and beta 3 subunits is also known as the vitronectin receptor. This integrin may regulate angiogenesis and cancer progression. Alternative splicing results in multiple transcript variants. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015]
ITGAX	chr16	31355134	31382997	+	ENSG00000140678.16	protein_coding	CD11C|SLEB6	16p11.2	integrin subunit alpha X	This gene encodes the integrin alpha X chain protein. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein combines with the beta 2 chain (ITGB2) to form a leukocyte-specific integrin referred to as inactivated-C3b (iC3b) receptor 4 (CR4). The alpha X beta 2 complex seems to overlap the properties of the alpha M beta 2 integrin in the adherence of neutrophils and monocytes to stimulated endothelium cells, and in the phagocytosis of complement coated particles. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
ITGB1	chr10	32900319	33005792	-	ENSG00000150093.18	protein_coding	CD29|FNRB|GPIIA|MDF2|MSK12|VLA-BETA|VLAB	10p11.22	integrin subunit beta 1	Integrins are heterodimeric proteins made up of alpha and beta subunits. At least 18 alpha and 8 beta subunits have been described in mammals. Integrin family members are membrane receptors involved in cell adhesion and recognition in a variety of processes including embryogenesis, hemostasis, tissue repair, immune response and metastatic diffusion of tumor cells. This gene encodes a beta subunit. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ITGB1BP1	chr2	9403475	9423547	-	ENSG00000119185.12	protein_coding	ICAP-1A|ICAP-1B|ICAP-1alpha|ICAP1|ICAP1A|ICAP1B	2p25.1	integrin subunit beta 1 binding protein 1	The cytoplasmic domains of integrins are essential for cell adhesion. The protein encoded by this gene binds to the beta1 integrin cytoplasmic domain. The interaction between this protein and beta1 integrin is highly specific. Two isoforms of this protein are derived from alternatively spliced transcripts. The shorter form of this protein does not interact with the beta1 integrin cytoplasmic domain. The longer form is a phosphoprotein and the extent of its phosphorylation is regulated by the cell-matrix interaction, suggesting an important role of this protein during integrin-dependent cell adhesion. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]
ITGB2	chr21	44885953	44931989	-	ENSG00000160255.17	protein_coding	CD18|LAD|LCAMB|LFA-1|MAC-1|MF17|MFI7	21q22.3	integrin subunit beta 2	This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
ITGB3	chr17	47253846	47311816	+	ENSG00000259207.7	protein_coding	BDPLT16|BDPLT2|BDPLT24|CD61|GP3A|GPIIIa|GT|GT2	17q21.32	integrin subunit beta 3	The ITGB3 protein product is the integrin beta chain beta 3. Integrins are integral cell-surface proteins composed of an alpha chain and a beta chain. A given chain may combine with multiple partners resulting in different integrins. Integrin beta 3 is found along with the alpha IIb chain in platelets. Integrins are known to participate in cell adhesion as well as cell-surface mediated signalling. [provided by RefSeq, Jul 2008]
ITGB3BP	chr1	63440770	63593721	-	ENSG00000142856.16	protein_coding	CENP-R|CENPR|HSU37139|NRIF3|TAP20	1p31.3	integrin subunit beta 3 binding protein	This gene encodes a transcriptional coregulator that binds to and enhances the activity of members of the nuclear receptor families, thyroid hormone receptors and retinoid X receptors. This protein also acts as a corepressor of NF-kappaB-dependent signaling. This protein induces apoptosis in breast cancer cells through a caspase 2-mediated signaling pathway. This protein is also a component of the centromere-specific histone H3 variant nucleosome associated complex (CENP-NAC) and may be involved in mitotic progression by recruiting the histone H3 variant CENP-A to the centromere. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
ITGB4	chr17	75721328	75757818	+	ENSG00000132470.13	protein_coding	CD104|GP150	17q25.1	integrin subunit beta 4	Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ITGB5	chr3	124761948	124901418	-	ENSG00000082781.11	protein_coding	-	3q21.2	integrin subunit beta 5	Ubiquitous expression in placenta (RPKM 40.4), gall bladder (RPKM 34.0) and 24 other tissues
ITGB6	chr2	160099666	160271888	-	ENSG00000115221.10	protein_coding	AI1H	2q24.2	integrin subunit beta 6	This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms a dimer with an alpha v chain and this heterodimer can bind to ligands like fibronectin and transforming growth factor beta 1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
ITGB7	chr12	53191318	53207307	-	ENSG00000139626.15	protein_coding	-	12q13.13	integrin subunit beta 7	Broad expression in spleen (RPKM 15.4), lymph node (RPKM 15.4) and 19 other tissues
ITGB8	chr7	20330702	20415754	+	ENSG00000105855.9	protein_coding	-	7p21.1	integrin subunit beta 8	Broad expression in kidney (RPKM 12.1), brain (RPKM 11.6) and 19 other tissues
ITGBL1	chr13	101452593	101720856	+	ENSG00000198542.13	protein_coding	OSCP|TIED	13q33.1	integrin subunit beta like 1	This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
ITIH1	chr3	52777592	52792068	+	ENSG00000055957.10	protein_coding	H1P|IATIH|IGHEP1|ITI-HC1|ITIH|SHAP	3p21.1	inter-alpha-trypsin inhibitor heavy chain 1	This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015]
ITIH3	chr3	52794768	52809009	+	ENSG00000162267.12	protein_coding	H3P|ITI-HC3|SHAP	3p21.1	inter-alpha-trypsin inhibitor heavy chain 3	This gene encodes the heavy chain subunit of the pre-alpha-trypsin inhibitor complex. This complex may stabilize the extracellular matrix through its ability to bind hyaluronic acid. Polymorphisms of this gene may be associated with increased risk for schizophrenia and major depressive disorder. This gene is present in an inter-alpha-trypsin inhibitor family gene cluster on chromosome 3. [provided by RefSeq, Jul 2015]
ITIH4	chr3	52812975	52831479	-	ENSG00000055955.15	protein_coding	GP120|H4P|IHRP|ITI-HC4|ITIHL1|PK-120|PK120	3p21.1	inter-alpha-trypsin inhibitor heavy chain 4	The protein encoded by this gene is secreted into the blood, where it is cleaved by plasma kallikrein into two smaller forms. Expression of this gene has been detected only in liver, and it seems to be upregulated during surgical trauma. This gene is part of a cluster of similar genes on chromosome 3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
ITIH4-AS1	chr3	52823935	52825314	+	ENSG00000239799.1	antisense	-	3p21.1	ITIH4 antisense RNA 1	-
ITIH5	chr10	7559270	7666998	-	ENSG00000123243.14	protein_coding	ITI-HC5|PP14776	10p14	inter-alpha-trypsin inhibitor heavy chain 5	This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
ITK	chr5	157142933	157255191	+	ENSG00000113263.12	protein_coding	EMT|LPFS1|LYK|PSCTK2	5q33.3	IL2 inducible T cell kinase	This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation. [provided by RefSeq, Jul 2008]
ITLN1	chr1	160876539	160885170	-	ENSG00000179914.4	protein_coding	HL-1|HL1|INTL|ITLN|LFR|hIntL|omentin	1q23.3	intelectin 1	Biased expression in colon (RPKM 361.8), small intestine (RPKM 202.0) and 3 other tissues
ITLN2	chr1	160945025	160954799	-	ENSG00000158764.6	protein_coding	HL-2|HL2	1q23.3	intelectin 2	Predicted to enable oligosaccharide binding activity. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
ITM2B	chr13	48233158	48270357	+	ENSG00000136156.12	protein_coding	ABRI|BRI|BRI2|BRICD2B|E25B|E3-16|FBD|RDGCA|imBRI2	13q14.2	integral membrane protein 2B	Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009]
ITM2C	chr2	230864639	230879248	+	ENSG00000135916.15	protein_coding	BRI3|BRICD2C|E25|E25C|ITM3	2q37.1	integral membrane protein 2C	Broad expression in colon (RPKM 478.6), brain (RPKM 266.8) and 17 other tissues
ITPA	chr20	3208868	3223870	+	ENSG00000125877.12	protein_coding	C20orf37|DEE35|HLC14-06-P|ITPase|My049|NTPase|dJ794I6.3	20p13	inosine triphosphatase	This gene encodes an inosine triphosphate pyrophosphohydrolase. The encoded protein hydrolyzes inosine triphosphate and deoxyinosine triphosphate to the monophosphate nucleotide and diphosphate. This protein, which is a member of the HAM1 NTPase protein family, is found in the cytoplasm and acts as a homodimer. Defects in the encoded protein can result in inosine triphosphate pyrophosphorylase deficiency which causes an accumulation of ITP in red blood cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
ITPK1	chr14	92936914	93116320	-	ENSG00000100605.16	protein_coding	ITRPK1	14q32.12	inositol-tetrakisphosphate 1-kinase	This gene encodes an enzyme that belongs to the inositol 1,3,4-trisphosphate 5/6-kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Jul 2016]
ITPKA	chr15	41493393	41503551	+	ENSG00000137825.10	protein_coding	IP3-3KA|IP3KA	15q15.1	inositol-trisphosphate 3-kinase A	Regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of the inositol 1,4,5-trisphosphate 3-kinase is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. It is also a substrate for the cyclic AMP-dependent protein kinase, calcium/calmodulin- dependent protein kinase II, and protein kinase C in vitro.[provided by RefSeq, Apr 2011]
ITPKB	chr1	226631690	226739323	-	ENSG00000143772.9	protein_coding	IP3-3KB|IP3K|IP3K-B|IP3KB|PIG37	1q42.12	inositol-trisphosphate 3-kinase B	The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. [provided by RefSeq, Jul 2008]
ITPKC	chr19	40717103	40740860	+	ENSG00000086544.2	protein_coding	IP3-3KC|IP3KC	19q13.2	inositol-trisphosphate 3-kinase C	This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009]
ITPR1	chr3	4493348	4847840	+	ENSG00000150995.18	protein_coding	ACV|CLA4|INSP3R1|IP3R|IP3R1|PPP1R94|SCA15|SCA16|SCA29	3p26.1	inositol 1,4,5-trisphosphate receptor type 1	This gene encodes an intracellular receptor for inositol 1,4,5-trisphosphate. Upon stimulation by inositol 1,4,5-trisphosphate, this receptor mediates calcium release from the endoplasmic reticulum. Mutations in this gene cause spinocerebellar ataxia type 15, a disease associated with an heterogeneous group of cerebellar disorders. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
ITPR1-DT	chr3	 4490317	4493163	-	ENSG00000231249	ncRNA	ITPR1-AS1	3p26.1	ITPR1 divergent transcript	Broad expression in thyroid (RPKM 1.5), prostate (RPKM 1.2) and 22 other tissues
ITPR2	chr12	26336515	26833198	-	ENSG00000123104.11	protein_coding	ANHD|CFAP48|INSP3R2|IP3R2	12p11.23	inositol 1,4,5-trisphosphate receptor type 2	The protein encoded by this gene belongs to the inositol 1,4,5-triphosphate receptor family, whose members are second messenger intracellular calcium release channels. These proteins mediate a rise in cytoplasmic calcium in response to receptor activated production of inositol triphosphate. Inositol triphosphate receptor-mediated signaling is involved in many processes including cell migration, cell division, smooth muscle contraction, and neuronal signaling. This protein is a type 2 receptor that consists of a cytoplasmic amino-terminus that binds inositol triphosphate, six membrane-spanning helices that contribute to the ion pore, and a short cytoplasmic carboxy-terminus. A mutation in this gene has been associated with anhidrosis, suggesting that intracellular calcium release mediated by this protein is required for eccrine sweat production. [provided by RefSeq, Apr 2015]
ITPR3	chr6	33620365	33696574	+	ENSG00000096433.10	protein_coding	IP3R|IP3R3	6p21.31	inositol 1,4,5-trisphosphate receptor type 3	This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies in mice suggest that type 2 and type 3 inositol 1,4,5-trisphosphate receptors play a key role in exocrine secretion underlying energy metabolism and growth. [provided by RefSeq, Aug 2010]
ITPRID2	chr2	 181891730	181930738	+	ENSG00000138434	protein-coding	CS-1|CS1|KRAP|SPAG13|SSFA2	2q31.3	ITPR interacting domain containing 2	Ubiquitous expression in skin (RPKM 31.5), colon (RPKM 22.4) and 25 other tissues
ITPRIP	chr10	104309698	104338404	-	ENSG00000148841.15	protein_coding	DANGER|KIAA1754|bA127L20|bA127L20.2	10q25.1	inositol 1,4,5-trisphosphate receptor interacting protein	This gene encodes a membrane-associated protein that binds the inositol 1,4,5-trisphosphate receptor (ITPR). The encoded protein enhances the sensitivity of ITPR to intracellular calcium signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
ITPRIPL1	chr2	96325331	96330517	+	ENSG00000198885.9	protein_coding	KIAA1754L	2q11.2	ITPRIP like 1	Broad expression in testis (RPKM 4.7), lymph node (RPKM 1.3) and 15 other tissues
ITSN1	chr21	33642400	33899861	+	ENSG00000205726.14	protein_coding	ITSN|SH3D1A|SH3P17	21q22.11	intersectin 1	The protein encoded by this gene is a cytoplasmic membrane-associated protein that indirectly coordinates endocytic membrane traffic with the actin assembly machinery. In addition, the encoded protein may regulate the formation of clathrin-coated vesicles and could be involved in synaptic vesicle recycling. This protein has been shown to interact with dynamin, CDC42, SNAP23, SNAP25, SPIN90, EPS15, EPN1, EPN2, and STN2. Multiple transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been characterized so far. [provided by RefSeq, Jul 2008]
ITSN2	chr2	24202864	24360714	-	ENSG00000198399.14	protein_coding	PRO2015|SH3D1B|SH3P18|SWA|SWAP	2p23.3	intersectin 2	This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis. [provided by RefSeq, Jan 2017]
IVD	chr15	40405795	40435947	+	ENSG00000128928.8	protein_coding	ACAD2|IVDH	15q15.1	isovaleryl-CoA dehydrogenase	Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]
IVL	chr1	152908545	152911886	+	ENSG00000163207.6	protein_coding	-	1q21.3	involucrin	Restricted expression toward esophagus (RPKM 127.7)
IVNS1ABP	chr1	185296388	185317329	-	ENSG00000116679.15	protein_coding	ARA3|FLARA3|HSPC068|IMD70|KLHL39|ND1|NS-1|NS1-BP|NS1BP	1q25.3	influenza virus NS1A binding protein	Ubiquitous expression in bone marrow (RPKM 56.1), kidney (RPKM 31.5) and 24 other tissues
IWS1	chr2	127436207	127526886	-	ENSG00000163166.14	protein_coding	-	2q14.3	interacts with SUPT6H, CTD assembly factor 1	-
IZUMO1	chr19	48740852	48746909	-	ENSG00000182264.8	protein_coding	IZUMO|OBF	19q13.33	izumo sperm-egg fusion 1	The sperm-specific protein Izumo, named for a Japanese shrine dedicated to marriage, is essential for sperm-egg plasma membrane binding and fusion (Inoue et al., 2005 [PubMed 15759005]).[supplied by OMIM, Mar 2008]
IZUMO4	chr19	2096429	2099593	+	ENSG00000099840.13	protein_coding	C19orf36|IMAGE:4215339	19p13.3	IZUMO family member 4	Restricted expression toward testis (RPKM 134.0)
JADE1	chr4	128809623	128875224	+	ENSG00000077684.15	protein_coding	PHF17	4q28.2	jade family PHD finger 1	Ubiquitous expression in thyroid (RPKM 13.1), ovary (RPKM 12.4) and 25 other tissues
JADE2	chr5	134524312	134583230	+	ENSG00000043143.20	protein_coding	JADE-2|PHF15	5q31.1	jade family PHD finger 2	Ubiquitous expression in spleen (RPKM 11.1), ovary (RPKM 11.0) and 24 other tissues
JAG1	chr20	10637684	10674107	-	ENSG00000101384.11	protein_coding	AGS|AGS1|AHD|AWS|CD339|DCHE|HJ1|JAGL1	20p12.2	jagged canonical Notch ligand 1	The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Nov 2019]
JAG2	chr14	105140981	105168824	-	ENSG00000184916.8	protein_coding	HJ2|LGMDR27|SER2	14q32.33	jagged canonical Notch ligand 2	The Notch signaling pathway is an intercellular signaling mechanism that is essential for proper embryonic development. Members of the Notch gene family encode transmembrane receptors that are critical for various cell fate decisions. The protein encoded by this gene is one of several ligands that activate Notch and related receptors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
JAGN1	chr3	9890554	9894349	+	ENSG00000171135.13	protein_coding	GL009|SCN6	3p25.3	jagunal homolog 1	The protein encoded by this gene is a transmembrane protein. It functions in the early secretory pathway and is necessary for neutrophil differentiation and survival. Mutations in this gene result in severe congenital neutropenia. [provided by RefSeq, Oct 2014]
JAK1	chr1	64833229	64966504	-	ENSG00000162434.11	protein_coding	AIIDE|JAK1A|JAK1B|JTK3	1p31.3	Janus kinase 1	This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The encoded kinase phosphorylates STAT proteins (signal transducers and activators of transcription) and plays a key role in interferon-alpha/beta, interferon-gamma, and cytokine signal transduction. This gene plays a crucial role in effecting the expression of genes that mediate inflammation, epithelial remodeling, and metastatic cancer progression. This gene is a key component of the interleukin-6 (IL-6)/JAK1/STAT3 immune and inflammation response and is a therapeutic target for alleviating cytokine storms. The kinase activity of this gene is directly inhibited by the suppressor of cytokine signalling 1 (SOCS1) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2020]
JAK2	chr9	4984390	5128183	+	ENSG00000096968.13	protein_coding	JTK10	9p24.1	Janus kinase 2	This gene encodes a non-receptor tyrosine kinase that plays a central role in cytokine and growth factor signalling. The primary isoform of this protein has an N-terminal FERM domain that is required for erythropoietin receptor association, an SH2 domain that binds STAT transcription factors, a pseudokinase domain and a C-terminal tyrosine kinase domain. Cytokine binding induces autophosphorylation and activation of this kinase. This kinase then recruits and phosphorylates signal transducer and activator of transcription (STAT) proteins. Growth factors like TGF-beta 1 also induce phosphorylation and activation of this kinase and translocation of downstream STAT proteins to the nucleus where they influence gene transcription. Mutations in this gene are associated with numerous inflammatory diseases and malignancies. This gene is a downstream target of the pleiotropic cytokine IL6 that is produced by B cells, T cells, dendritic cells and macrophages to produce an immune response or inflammation. Disregulation of the IL6/JAK2/STAT3 signalling pathways produces increased cellular proliferation and myeloproliferative neoplasms of hematopoietic stem cells. A nonsynonymous mutation in the pseudokinase domain of this gene disrupts the domains inhibitory effect and results in constitutive tyrosine phosphorylation activity and hypersensitivity to cytokine signalling. This gene and the IL6/JAK2/STAT3 signalling pathway is a therapeutic target for the treatment of excessive inflammatory responses to viral infections. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]
JAKMIP1	chr4	6026199	6200591	-	ENSG00000152969.17	protein_coding	Gababrbp|JAMIP1|MARLIN1	4p16.1	janus kinase and microtubule interacting protein 1	Biased expression in brain (RPKM 7.6), testis (RPKM 1.5) and 4 other tissues
JAKMIP3	chr10	132104671	132184809	+	ENSG00000188385.11	protein_coding	C10orf14|C10orf39|Jamip3|NECC2|bA140A10.5	10q26.3	Janus kinase and microtubule interacting protein 3	Biased expression in brain (RPKM 2.2), prostate (RPKM 1.0) and 11 other tissues
JAM2	chr21	25639272	25717562	+	ENSG00000154721.14	protein_coding	C21orf43|CD322|IBGC8|JAM-B|JAMB|PRO245|VE-JAM|VEJAM	21q21.3	junctional adhesion molecule 2	This gene belongs to the immunoglobulin superfamily, and the junctional adhesion molecule (JAM) family. The protein encoded by this gene is a type I membrane protein that is localized at the tight junctions of both epithelial and endothelial cells. It acts as an adhesive ligand for interacting with a variety of immune cell types, and may play a role in lymphocyte homing to secondary lymphoid organs. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2012]
JAM3	chr11	134068925	134152001	+	ENSG00000166086.12	protein_coding	JAM-2|JAM-3|JAM-C|JAMC	11q25	junctional adhesion molecule 3	Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. Unlike other proteins in this family, the this protein is unable to adhere to leukocyte cell lines and only forms weak homotypic interactions. The encoded protein is a member of the junctional adhesion molecule protein family and acts as a receptor for another member of this family. A mutation in an intron of this gene is associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]
JAML	chr11	118193740	118225094	-	ENSG00000160593.18	protein_coding	AMICA|AMICA1|CREA7-1|CREA7-4|Gm638	11q23.3	junction adhesion molecule like	Broad expression in appendix (RPKM 34.6), spleen (RPKM 24.5) and 14 other tissues
JARID2	chr6	15246296	15522040	+	ENSG00000008083.13	protein_coding	JMJ	6p22.3	jumonji and AT-rich interaction domain containing 2	This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012]
JARID2-AS1	chr6	15247815	15248634	-	ENSG00000235488.1	antisense	-	6p22.3	JARID2 antisense RNA 1	-
JAZF1	chr7	27830573	28180743	-	ENSG00000153814.11	protein_coding	TIP27|ZNF802	7p15.2-p15.1	JAZF zinc finger 1	This gene encodes a nuclear protein with three C2H2-type zinc fingers, and functions as a transcriptional repressor. Chromosomal aberrations involving this gene are associated with endometrial stromal tumors. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized [provided by RefSeq, Jul 2008]
JAZF1-AS1	chr7	28180322	28243917	+	ENSG00000234336.6	antisense	-	7p15.1	JAZF1 antisense RNA 1	-
JCAD	chr10	 30012803	30115494	-	ENSG00000165757	protein-coding	KIAA1462	10p11.23	junctional cadherin 5 associated	This gene encodes an endothelial cell-to-cell junction protein. Naturally occurring mutations in this gene are associated with coronary artery disease, late onset alzheimer disease, and emphysema distribution. [provided by RefSeq, Mar 2017]
JCHAIN	chr4	70655541	70681817	-	ENSG00000132465.10	protein_coding	IGCJ|IGJ|JCH	4q13.3	joining chain of multimeric IgA and IgM	Biased expression in colon (RPKM 2264.9), duodenum (RPKM 2014.1) and 10 other tissues
JDP2	chr14	75427716	75474111	+	ENSG00000140044.12	protein_coding	JUNDM2	14q24.3	Jun dimerization protein 2	Ubiquitous expression in spleen (RPKM 5.0), bone marrow (RPKM 4.2) and 25 other tissues
JHY	chr11	 122882759	122963862	+	ENSG00000109944	protein-coding	C11orf63	11q24.1	junctional cadherin complex regulator	Broad expression in testis (RPKM 7.4), kidney (RPKM 1.8) and 16 other tissues
JKAMP	chr14	59484443	59505410	+	ENSG00000050130.17	protein_coding	C14orf100|C24orf100|CDA06|HSPC213|HSPC327|JAMP	14q23.1	JNK1/MAPK8 associated membrane protein	Ubiquitous expression in testis (RPKM 16.2), adrenal (RPKM 14.0) and 25 other tissues
JMJD1C	chr10	63167221	63521850	-	ENSG00000171988.18	protein_coding	KDM3C|TRIP-8|TRIP8	10q21.3	jumonji domain containing 1C	The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pathway by demethylating the mediator of DNA damage checkpoint 1 (MDC1) protein, and is required for the survival of acute myeloid leukemia. Mutations in this gene are associated with Rett syndrome and intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
JMJD1C-AS1	chr10	63465229	63466563	+	ENSG00000272767.1	antisense	-	10q21.3	JMJD1C antisense RNA 1	-
JMJD4	chr1	227730425	227735411	-	ENSG00000081692.12	protein_coding	-	1q42.13	jumonji domain containing 4	-
JMJD6	chr17	76712832	76726799	-	ENSG00000070495.14	protein_coding	PSR|PTDSR|PTDSR1	17q25.1	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	This gene encodes a nuclear protein with a JmjC domain. JmjC domain-containing proteins are predicted to function as protein hydroxylases or histone demethylases. This protein was first identified as a putative phosphatidylserine receptor involved in phagocytosis of apoptotic cells; however, subsequent studies have indicated that it does not directly function in the clearance of apoptotic cells, and questioned whether it is a true phosphatidylserine receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
JMJD7	chr15	41828085	41837581	+	ENSG00000243789.10	protein_coding	-	15q15.1	jumonji domain containing 7	Ubiquitous expression in skin (RPKM 20.1), esophagus (RPKM 12.8) and 25 other tissues
JMJD8	chr16	681671	684528	-	ENSG00000161999.11	protein_coding	C16orf20|PP14397	16p13.3	jumonji domain containing 8	Ubiquitous expression in thyroid (RPKM 36.7), kidney (RPKM 34.2) and 25 other tissues
JMY	chr5	79236189	79327215	+	ENSG00000152409.8	protein_coding	WHAMM2|WHDC1L3	5q14.1	junction mediating and regulatory protein, p53 cofactor	Ubiquitous expression in endometrium (RPKM 8.1), thyroid (RPKM 7.3) and 25 other tissues
JOSD1	chr22	38685543	38701556	-	ENSG00000100221.10	protein_coding	dJ508I15.2	22q13.1	Josephin domain containing 1	Ubiquitous expression in bone marrow (RPKM 27.2), gall bladder (RPKM 19.0) and 25 other tissues
JOSD2	chr19	50505998	50511353	-	ENSG00000161677.11	protein_coding	SBBI54	19q13.33	Josephin domain containing 2	This gene encodes a protein containing a Josephin domain. Josephin domain-containing proteins are deubiquitinating enzymes which catalyze the hydrolysis of the bond between the C-terminal glycine of the ubiquitin peptide and protein substrates. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
JPH2	chr20	44111695	44187578	-	ENSG00000149596.6	protein_coding	CMD2E|CMH17|JP-2|JP2	20q13.12	junctophilin 2	Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. Alternative splicing has been observed at this locus and two variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2008]
JPH3	chr16	87601835	87698156	+	ENSG00000154118.12	protein_coding	CAGL237|HDL2|JP-3|JP3|TNRC22	16q24.2	junctophilin 3	Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3 UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]
JPH4	chr14	23568035	23578800	-	ENSG00000092051.16	protein_coding	JP4|JPHL1	14q11.2	junctophilin 4	This gene encodes a member of the junctophilin family of transmembrane proteins that are involved in the formation of the junctional membrane complexes between the plasma membrane and the endoplasmic/sarcoplasmic reticulum in excitable cells. The encoded protein contains a conserved N-terminal repeat region called the membrane occupation and recognition nexus sequence that is found in other members of the junctophilin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
JPX	chrX	73944184	74070408	+	ENSG00000225470.7	lincRNA	DCBALD06|ENOX|LINC00183|NCRNA00183	Xq13.2	JPX transcript, XIST activator	JPX is a nonprotein-coding RNA transcribed from a gene within the X-inactivation center (XIC; MIM 314670) that appears to participate in X chromosome inactivation (Tian et al., 2010 [PubMed 21029862]).[supplied by OMIM, Feb 2011]
JRK	chr8	142657460	142681968	-	ENSG00000234616.8	protein_coding	JH8|jerky	8q24.3	Jrk helix-turn-helix protein	This gene encodes a conserved protein that is similar to DNA-binding proteins, such as major centromere autoantigen B (CENPB). Inactivation of the related gene in mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
JSRP1	chr19	2252252	2269759	-	ENSG00000167476.10	protein_coding	JP-45|JP45	19p13.3	junctional sarcoplasmic reticulum protein 1	The protein encoded by this gene is involved in excitation-contraction coupling at the sarcoplasmic reticulum. The encoded protein can interact with CACNA1S, CACNB1, and calsequestrin to help regulate calcium influx and efflux in skeletal muscle. [provided by RefSeq, Jul 2012]
JTB	chr1	153974269	153977688	-	ENSG00000143543.14	protein_coding	HJTB|HSPC222|PAR|hJT	1q21.3	jumping translocation breakpoint	Enables protein kinase binding activity. Involved in mitotic cytokinesis and positive regulation of protein kinase activity. Located in cytoplasm and midbody. Colocalizes with centrosome and spindle. [provided by Alliance of Genome Resources, Apr 2022]
JTBP1	chr22	40798039	40798285	+	ENSG00000233603.1	processed_pseudogene	-	22q13.2	jumping translocation breakpoint pseudogene 1	-
JUN	chr1	58780788	58784327	-	ENSG00000177606.6	protein_coding	AP-1|AP1|c-Jun|cJUN|p39	1p32.1	Jun proto-oncogene, AP-1 transcription factor subunit	This gene is the putative transforming gene of avian sarcoma virus 17. It encodes a protein which is highly similar to the viral protein, and which interacts directly with specific target DNA sequences to regulate gene expression. This gene is intronless and is mapped to 1p32-p31, a chromosomal region involved in both translocations and deletions in human malignancies. [provided by RefSeq, Jul 2008]
JUNB	chr19	12791496	12793315	+	ENSG00000171223.5	protein_coding	AP-1	19p13.13	JunB proto-oncogene, AP-1 transcription factor subunit	-
JUND	chr19	18279760	18281622	-	ENSG00000130522.5	protein_coding	AP-1	19p13.11	JunD proto-oncogene, AP-1 transcription factor subunit	The protein encoded by this intronless gene is a member of the JUN family, and a functional component of the AP1 transcription factor complex. This protein has been proposed to protect cells from p53-dependent senescence and apoptosis. Alternative translation initiation site usage results in the production of different isoforms (PMID:12105216). [provided by RefSeq, Nov 2013]
JUP	chr17	41754604	41786931	-	ENSG00000173801.16	protein_coding	CTNNG|DP3|DPIII|PDGB|PG|PKGB	17q21.2	junction plakoglobin	This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008]
KALRN	chr3	124080023	124726325	+	ENSG00000160145.15	protein_coding	ARHGEF24|CHD5|CHDS5|DUET|DUO|HAPIP|TRAD	3q21.1-q21.2	kalirin RhoGEF kinase	Huntingtons disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016]
KANK1	chr9	470291	746106	+	ENSG00000107104.18	protein_coding	ANKRD15|CPSQ2|KANK	9p24.3	KN motif and ankyrin repeat domains 1	The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]
KANK2	chr19	11164267	11197791	-	ENSG00000197256.10	protein_coding	ANKRD25|MXRA3|NPHS16|PPKWH|SIP	19p13.2	KN motif and ankyrin repeat domains 2	This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul 2016]
KANK3	chr19	8322584	8343262	-	ENSG00000186994.11	protein_coding	ANKRD47	19p13.2	KN motif and ankyrin repeat domains 3	Broad expression in fat (RPKM 11.4), spleen (RPKM 8.7) and 21 other tissues
KANK4	chr1	62236979	62319414	-	ENSG00000132854.18	protein_coding	ANKRD38|dJ1078M7.1	1p31.3	KN motif and ankyrin repeat domains 4	Biased expression in fat (RPKM 7.4), placenta (RPKM 5.9) and 10 other tissues
KANSL1	chr17	46029916	46225389	-	ENSG00000120071.13	protein_coding	CENP-36|KDVS|KIAA1267|MSL1v1|NSL1|hMSL1v1	17q21.31	KAT8 regulatory NSL complex subunit 1	This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012]
KANSL1-AS1	chr17	46193576	46196723	+	ENSG00000214401.4	antisense	-	17q21.31	KANSL1 antisense RNA 1	-
KANSL1L	chr2	210021423	210171383	-	ENSG00000144445.16	protein_coding	C2orf67|MSL1v2	2q34	KAT8 regulatory NSL complex subunit 1 like	Ubiquitous expression in testis (RPKM 5.3), ovary (RPKM 4.5) and 25 other tissues
KANSL2	chr12	48653401	48682238	-	ENSG00000139620.12	protein_coding	C12orf41|NSL2	12q13.11	KAT8 regulatory NSL complex subunit 2	Ubiquitous expression in bone marrow (RPKM 25.9), testis (RPKM 12.9) and 25 other tissues
KANSL3	chr2	96593170	96642787	-	ENSG00000114982.17	protein_coding	KIAA1310|NSL3|Rcd1	2q11.2	KAT8 regulatory NSL complex subunit 3	Ubiquitous expression in testis (RPKM 20.0), ovary (RPKM 12.2) and 25 other tissues
KARS1	chr16	 75627724	75647665	-	ENSG00000065427	protein-coding	CMTRIB|DEAPLE|DFNB89|KARS|KARS2|KRS|LEPID	16q23.1	lysyl-tRNA synthetase 1	Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
KASH5	chr19	 49388249	49417990	+	ENSG00000161609	protein-coding	CCDC155	19q13.33	KASH domain containing 5	-
KAT14	chr20	18138118	18188387	+	ENSG00000149474.13	protein_coding	ATAC2|CRP2BP|CSRP2BP|PRO1194|dJ717M23.1	20p11.23	lysine acetyltransferase 14	CSRP2 is a protein containing two LIM domains, which are double zinc finger motifs found in proteins of diverse function. CSRP2 and some related proteins are thought to act as protein adapters, bridging two or more proteins to form a larger protein complex. The protein encoded by this gene binds to one of the LIM domains of CSRP2 and contains an acetyltransferase domain. Although the encoded protein has been detected in the cytoplasm, it is predominantly a nuclear protein. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]
KAT2A	chr17	42113108	42121358	-	ENSG00000108773.10	protein_coding	GCN5|GCN5L2|PCAF-b|hGCN5	17q21.2	lysine acetyltransferase 2A	KAT2A, or GCN5, is a histone acetyltransferase (HAT) that functions primarily as a transcriptional activator. It also functions as a repressor of NF-kappa-B (see MIM 164011) by promoting ubiquitination of the NF-kappa-B subunit RELA (MIM 164014) in a HAT-independent manner (Mao et al., 2009 [PubMed 19339690]).[supplied by OMIM, Sep 2009]
KAT2B	chr3	20040023	20154404	+	ENSG00000114166.7	protein_coding	CAF|P/CAF|PCAF	3p24.3	lysine acetyltransferase 2B	CBP and p300 are large nuclear proteins that bind to many sequence-specific factors involved in cell growth and/or differentiation, including c-jun and the adenoviral oncoprotein E1A. The protein encoded by this gene associates with p300/CBP. It has in vitro and in vivo binding activity with CBP and p300, and competes with E1A for binding sites in p300/CBP. It has histone acetyl transferase activity with core histones and nucleosome core particles, indicating that this protein plays a direct role in transcriptional regulation. [provided by RefSeq, Jul 2008]
KAT5	chr11	65711996	65719604	+	ENSG00000172977.12	protein_coding	ESA1|HTATIP|HTATIP1|NEDFASB|PLIP|TIP|TIP60|ZC2HC5|cPLA2	11q13.1	lysine acetyltransferase 5	The protein encoded by this gene belongs to the MYST family of histone acetyl transferases (HATs) and was originally isolated as an HIV-1 TAT-interactive protein. HATs play important roles in regulating chromatin remodeling, transcription and other nuclear processes by acetylating histone and nonhistone proteins. This protein is a histone acetylase that has a role in DNA repair and apoptosis and is thought to play an important role in signal transduction. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
KAT6A	chr8	41929479	42051990	-	ENSG00000083168.9	protein_coding	ARTHS|MOZ|MRD32|MYST-3|MYST3|RUNXBP2|ZC2HC6A|ZNF220	8p11.21	lysine acetyltransferase 6A	This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase domain, a glutamate/aspartate-rich region, and a serine- and methionine-rich transactivation domain. It is part of a complex that acetylates lysine-9 residues in histone 3, and in addition, it acts as a co-activator for several transcription factors. Allelic variants of this gene are associated with an autosomal dominant form of cognitive disability. Chromosomal translocations of this gene are associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
KAT6B	chr10	74825582	75032622	+	ENSG00000156650.12	protein_coding	GTPTS|MORF|MOZ2|MYST4|ZC2HC6B|qkf|querkopf	10q22.2	lysine acetyltransferase 6B	The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
KAT7	chr17	49788555	49835030	+	ENSG00000136504.11	protein_coding	HBO1|HBOA|MYST2|ZC2HC7	17q21.33	lysine acetyltransferase 7	The protein encoded by this gene is part of the multimeric HBO1 complex, which possesses histone H4-specific acetyltransferase activity. This activity is required for functional replication origins and is involved in transcriptional activation of some genes. In both cases, the acetylation of histone H4 helps unfold chromatin so that the DNA can be accessed and replicated or transcribed. [provided by RefSeq, Oct 2016]
KAT8	chr16	31115754	31131393	+	ENSG00000103510.19	protein_coding	LIGOWS|MOF|MYST1|ZC2HC8|hMOF	16p11.2	lysine acetyltransferase 8	This gene encodes a member of the MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins which bind histones, and a C2HC-type zinc finger. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
KATNA1	chr6	149594873	149648972	-	ENSG00000186625.13	protein_coding	-	6q25.1	katanin catalytic subunit A1	Broad expression in testis (RPKM 18.8), ovary (RPKM 7.2) and 24 other tissues
KATNAL1	chr13	30202630	30307484	-	ENSG00000102781.13	protein_coding	-	13q12.3	katanin catalytic subunit A1 like 1	-
KATNAL2	chr18	46917492	47102243	+	ENSG00000167216.16	protein_coding	-	18q21.1	katanin catalytic subunit A1 like 2	-
KATNB1	chr16	57735730	57757250	+	ENSG00000140854.12	protein_coding	KAT|LIS6	16q21	katanin regulatory subunit B1	Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. [provided by RefSeq, Jul 2008]
KATNIP	chr16	 27550144	27780344	+	ENSG00000047578	protein-coding	JBTS26|KIAA0556	16p12.1	katanin interacting protein	-
KAZALD1	chr10	101061841	101068131	+	ENSG00000107821.14	protein_coding	BONO1|FKSG28|FKSG40|IGFBP-rP10	10q24.31	Kazal type serine peptidase inhibitor domain 1	This gene encodes a secreted member of the insulin growth factor-binding protein (IGFBP) superfamily. The protein contains an insulin growth factor-binding domain in its N-terminal region, a Kazal-type serine protease inhibitor and follistatin-like domain in its central region, and an immunoglobulin-like domain in its C-terminal region. Studies of the mouse ortholog suggest that this protein may function in bone development and bone regeneration. This gene is hypomethylated and over-expressed in high-grade glioma compared to low-grade glioma, and thus the hypomethylated gene may be associated with cell proliferation and the shorter survival of patients with high-grade glioma. It is also one of numerous genes found to be deleted in a novel 5.54 Mb interstitial deletion, which is associated with multiple congenital anomalies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
KAZN	chr1	13892792	15118043	+	ENSG00000189337.16	protein_coding	C1orf196|KAZ	1p36.21	kazrin, periplakin interacting protein	This gene encodes a protein that plays a role in desmosome assembly, cell adhesion, cytoskeletal organization, and epidermal differentiation. This protein co-localizes with desmoplakin and the cytolinker protein periplakin. In general, this protein localizes to the nucleus, desmosomes, cell membrane, and cortical actin-based structures. Some isoforms of this protein also associate with microtubules. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity has not been verified. [provided by RefSeq, Aug 2011]
KB-1027C11.4	chr22	21885282	21885673	-	ENSG00000225544.1	processed_pseudogene	-	-	-	-
KB-1083B1.1	chr8	100618581	100619993	+	ENSG00000253740.5	antisense	-	-	-	-
KB-1125A3.12	chr22	23865248	23873277	-	ENSG00000279467.1	antisense	-	-	-	-
KB-1440D3.13	chr22	21661934	21662363	+	ENSG00000272954.1	sense_intronic	-	-	-	-
KB-1440D3.14	chr22	21640844	21641284	+	ENSG00000273342.1	lincRNA	-	-	-	-
KB-1448A5.1	chr8	96371865	96387438	-	ENSG00000253105.5	lincRNA	-	-	-	-
KB-1471A8.1	chr8	119867419	119874488	-	ENSG00000245330.4	lincRNA	-	-	-	-
KB-1507C5.3	chr8	102891876	102893608	+	ENSG00000253263.1	lincRNA	-	-	-	-
KB-1507C5.4	chr8	102978785	103000184	+	ENSG00000254281.1	lincRNA	-	-	-	-
KB-1732A1.1	chr8	102805517	102809971	+	ENSG00000253669.3	lincRNA	-	-	-	-
KB-173C10.1	chr8	100428834	100430997	-	ENSG00000253842.1	lincRNA	-	-	-	-
KB-176G8.1	chr21	36485867	36487760	+	ENSG00000279365.1	TEC	-	-	-	-
KB-1980E6.3	chr8	102528740	102538668	+	ENSG00000253633.1	lincRNA	-	-	-	-
KB-7G2.8	chr22	16676016	16694648	-	ENSG00000273244.1	processed_transcript	-	-	-	-
KBTBD11	chr8	1973878	2006936	+	ENSG00000176595.3	protein_coding	KLHDC7C	8p23.3	kelch repeat and BTB domain containing 11	Broad expression in brain (RPKM 16.2), kidney (RPKM 8.3) and 19 other tissues
KBTBD12	chr3	127915232	127987671	+	ENSG00000187715.13	protein_coding	KLHDC6	3q21.3	kelch repeat and BTB domain containing 12	Biased expression in heart (RPKM 3.3), stomach (RPKM 0.6) and 10 other tissues
KBTBD2	chr7	32868172	32894131	-	ENSG00000170852.10	protein_coding	BKLHD1	7p14.3	kelch repeat and BTB domain containing 2	Ubiquitous expression in gall bladder (RPKM 16.7), bone marrow (RPKM 14.7) and 25 other tissues
KBTBD4	chr11	47572197	47579015	-	ENSG00000123444.13	protein_coding	BKLHD4|HSPC252	11p11.2	kelch repeat and BTB domain containing 4	Ubiquitous expression in testis (RPKM 10.3), thyroid (RPKM 10.1) and 25 other tissues
KBTBD6	chr13	41127569	41132746	-	ENSG00000165572.7	protein_coding	-	13q14.11	kelch repeat and BTB domain containing 6	-
KBTBD7	chr13	41189833	41194566	-	ENSG00000120696.8	protein_coding	-	13q14.11	kelch repeat and BTB domain containing 7	-
KCMF1	chr2	84971093	85059472	+	ENSG00000176407.17	protein_coding	DEBT91|FIGC|PCMF|ZZZ1	2p11.2	potassium channel modulatory factor 1	Ubiquitous expression in testis (RPKM 9.7), thyroid (RPKM 7.1) and 25 other tissues
KCNA3	chr1	110672465	110675033	-	ENSG00000177272.8	protein_coding	HGK5|HLK3|HPCN3|HUKIII|KV1.3|MK3|PCN3	1p13.3	potassium voltage-gated channel subfamily A member 3	Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. It plays an essential role in T-cell proliferation and activation. This gene appears to be intronless and it is clustered together with KCNA2 and KCNA10 genes on chromosome 1. [provided by RefSeq, Jul 2008]
KCNA4	chr11	30009741	30017023	-	ENSG00000182255.6	protein_coding	HBK4|HK1|HPCN2|HUKII|KCNA4L|KCNA8|KV1.4|MCIDDS|PCN2	11p14.1	potassium voltage-gated channel subfamily A member 4	Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the A-type potassium current class, the members of which may be important in the regulation of the fast repolarizing phase of action potentials in heart and thus may influence the duration of cardiac action potential.[provided by RefSeq, Mar 2011]
KCNA5	chr12	5043989	5046788	+	ENSG00000130037.4	protein_coding	ATFB7|HCK1|HK2|HPCN1|KV1.5|PCN1	12p13.32	potassium voltage-gated channel subfamily A member 5	Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, the function of which could restore the resting membrane potential of beta cells after depolarization and thereby contribute to the regulation of insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on chromosome 12. Defects in this gene are a cause of familial atrial fibrillation type 7 (ATFB7). [provided by RefSeq, May 2012]
KCNA7	chr19	49067418	49072941	-	ENSG00000104848.1	protein_coding	HAK6|KV1.7	19q13.33	potassium voltage-gated channel subfamily A member 7	Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. The gene is expressed preferentially in skeletal muscle, heart and kidney. It is a candidate gene for inherited cardiac disorders. [provided by RefSeq, Jul 2008]
KCNAB1	chr3	156037701	156539138	+	ENSG00000169282.17	protein_coding	AKR6A3|KCNA1B|KV-BETA-1|Kvb1.3|hKvBeta3|hKvb3	3q25.31	potassium voltage-gated channel subfamily A regulatory beta subunit 1	Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member includes distinct isoforms which are encoded by alternatively spliced transcript variants of this gene. Some of these isoforms are beta subunits, which form heteromultimeric complexes with alpha subunits and modulate the activity of the pore-forming alpha subunits. [provided by RefSeq, Apr 2015]
KCNAB2	chr1	5991466	6101193	+	ENSG00000069424.14	protein_coding	AKR6A5|HKvbeta2|HKvbeta2.1|HKvbeta2.2|KCNA2B|KV-BETA-2	1p36.31	potassium voltage-gated channel subfamily A regulatory beta subunit 2	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. This member alters functional properties of the KCNA4 gene product. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2010]
KCNAB3	chr17	7921859	7929803	-	ENSG00000170049.9	protein_coding	AKR6A9|KCNA3.1B|KCNA3B|KV-BETA-3	17p13.1	potassium voltage-gated channel subfamily A regulatory beta subunit 3	This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. The encoded protein is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. The encoded protein forms a heterodimer with the potassium voltage-gated channel, shaker-related subfamily, member 5 gene product and regulates the activity of the alpha subunit. [provided by RefSeq, May 2012]
KCNB1	chr20	49293394	49484297	-	ENSG00000158445.9	protein_coding	DEE26|DRK1|Kv2.1	20q13.13	potassium voltage-gated channel subfamily B member 1	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008]
KCNB2	chr8	72537391	72938349	+	ENSG00000182674.5	protein_coding	KV2.2	8q21.11	potassium voltage-gated channel subfamily B member 2	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel. The gene is expressed in gastrointestinal smooth muscle cells. [provided by RefSeq, Jul 2008]
KCNC1	chr11	17734774	17856804	+	ENSG00000129159.7	protein_coding	EPM7|KV3.1|KV4|NGK2	11p15.1	potassium voltage-gated channel subfamily C member 1	This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both b and alpha, while the shorter isoform has been called both a and beta (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014]
KCNC3	chr19	50311937	50333515	-	ENSG00000131398.13	protein_coding	KSHIIID|KV3.3|SCA13	19q13.33	potassium voltage-gated channel subfamily C member 3	The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Alternate splicing results in several transcript variants. [provided by RefSeq, Mar 2014]
KCNC4	chr1	110211343	110283100	+	ENSG00000116396.14	protein_coding	C1orf30|HKSHIIIC|KSHIIIC|KV3.4	1p13.3	potassium voltage-gated channel subfamily C member 4	The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]
KCNC4-DT	chr1	 110208450	110209987	-	-	ncRNA	KCNC4-AS1|LINC02586	1p13.3	KCNC4 divergent transcript	-
KCND2	chr7	120273668	120750331	+	ENSG00000184408.9	protein_coding	KV4.2|RK5	7q31.31	potassium voltage-gated channel subfamily D member 2	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. [provided by RefSeq, Jul 2008]
KCNE1	chr21	34446688	34512275	-	ENSG00000180509.11	protein_coding	ISK|JLNS|JLNS2|LQT2/5|LQT5|MinK	21q22.12	potassium voltage-gated channel subfamily E regulatory subunit 1	The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
KCNE2	chr21	34364024	34371389	+	ENSG00000159197.3	protein_coding	ATFB4|LQT5|LQT6|MIRP1	21q22.11	potassium voltage-gated channel subfamily E regulatory subunit 2	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a small integral membrane subunit that assembles with the KCNH2 gene product, a pore-forming protein, to alter its function. This gene is expressed in heart and muscle and the gene mutations are associated with cardiac arrhythmia. [provided by RefSeq, Jul 2008]
KCNE3	chr11	74454841	74467729	-	ENSG00000175538.10	protein_coding	BRGDA6|HOKPP|HYPP|MiRP2	11q13.4	potassium voltage-gated channel subfamily E regulatory subunit 3	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. [provided by RefSeq, Jul 2008]
KCNE4	chr2	223051814	223198399	+	ENSG00000152049.6	protein_coding	MIRP3	2q36.1	potassium voltage-gated channel subfamily E regulatory subunit 4	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. [provided by RefSeq, Jul 2008]
KCNF1	chr2	10911937	10914225	+	ENSG00000162975.4	protein_coding	IK8|KCNF|KV5.1|kH1	2p25.1	potassium voltage-gated channel modifier subfamily F member 1	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily F. This gene is intronless and expressed in all tissues tested, including the heart, skeletal muscle, brain, kidney, and pancreas. [provided by RefSeq, Jul 2008]
KCNG1	chr20	51003656	51023129	-	ENSG00000026559.13	protein_coding	K13|KCNG|KV6.1|kH2	20q13.13	potassium voltage-gated channel modifier subfamily G member 1	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This gene is abundantly expressed in skeletal muscle. Multiple alternatively spliced transcript variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008]
KCNG2	chr18	79863668	79900184	+	ENSG00000178342.4	protein_coding	KCNF2|KV6.2	18q23	potassium voltage-gated channel modifier subfamily G member 2	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit of the voltage-gated potassium channel. The delayed-rectifier type channels containing this subunit may contribute to cardiac action potential repolarization. [provided by RefSeq, Jul 2008]
KCNG3	chr2	42442017	42494097	-	ENSG00000171126.7	protein_coding	KV10.1|KV6.3	2p21	potassium voltage-gated channel modifier subfamily G member 3	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This member is a gamma subunit functioning as a modulatory molecule. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
KCNH1-IT1	chr1	211132588	211133374	-	ENSG00000234233.1	sense_intronic	-	1q32.2	KCNH1 intronic transcript 1	-
KCNH2	chr7	150944961	150978315	-	ENSG00000055118.14	protein_coding	ERG-1|ERG1|H-ERG|HERG|HERG1|Kv11.1|LQT2|SQT1	7q36.1	potassium voltage-gated channel subfamily H member 2	This gene encodes a voltage-activated potassium channel belonging to the eag family. It shares sequence similarity with the Drosophila ether-a-go-go (eag) gene. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
KCNH3	chr12	49539157	49558308	+	ENSG00000135519.6	protein_coding	BEC1|ELK2|Kv12.2	12q13.12	potassium voltage-gated channel subfamily H member 3	The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
KCNH4	chr17	42156891	42181278	-	ENSG00000089558.8	protein_coding	BEC2|ELK1|Kv12.3	17q21.2	potassium voltage-gated channel subfamily H member 4	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. The gene is brain-specific, and located in the neocortex and the striatum. It may be involved in cellular excitability of restricted neurons in the central nervous system. [provided by RefSeq, Jul 2008]
KCNH6	chr17	63523334	63548977	+	ENSG00000173826.14	protein_coding	ERG-2|ERG2|HERG2|Kv11.2|hERG-2	17q23.3	potassium voltage-gated channel subfamily H member 6	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]
KCNH7	chr2	162371407	162838730	-	ENSG00000184611.11	protein_coding	ERG3|HERG3|Kv11.3	2q24.2	potassium voltage-gated channel subfamily H member 7	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008]
KCNIP1	chr5	170353487	170736632	+	ENSG00000182132.13	protein_coding	KCHIP1|VABP	5q35.1	potassium voltage-gated channel interacting protein 1	This gene encodes a member of the family of cytosolic voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the neuronal calcium sensor (NCS) family of the calcium binding EF-hand proteins. They associate with Kv4 alpha subunits to form native Kv4 channel complexes. The encoded protein may regulate rapidly inactivating (A-type) currents, and hence neuronal membrane excitability, in response to changes in the concentration of intracellular calcium. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
KCNIP2	chr10	101825974	101843920	-	ENSG00000120049.18	protein_coding	KCHIP2	10q24.32	potassium voltage-gated channel interacting protein 2	This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belongs to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified from this gene. [provided by RefSeq, Jul 2008]
KCNIP2-AS1	chr10	101819078	101828779	+	ENSG00000226009.1	antisense	-	10q24.32	KCNIP2 antisense RNA 1	-
KCNIP3	chr2	95297304	95386083	+	ENSG00000115041.12	protein_coding	CSEN|DREAM|KCHIP3	2q11.1	potassium voltage-gated channel interacting protein 3	This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins, which belong to the recoverin branch of the EF-hand superfamily. Members of this family are small calcium binding proteins containing EF-hand-like domains. They are integral subunit components of native Kv4 channel complexes that may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. The encoded protein also functions as a calcium-regulated transcriptional repressor, and interacts with presenilins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
KCNIP4	chr4	20728616	21948799	-	ENSG00000185774.14	protein_coding	CALP|KCHIP4	4p15.31-p15.2	potassium voltage-gated channel interacting protein 4	This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins (KCNIPs), which belong to the recoverin branch of the EF-hand superfamily. Members of the KCNIP family are small calcium binding proteins. They all have EF-hand-like domains, and differ from each other in the N-terminus. They are integral subunit components of native Kv4 channel complexes. They may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. This protein member also interacts with presenilin. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
KCNJ1	chr11	128836315	128867373	-	ENSG00000151704.15	protein_coding	KIR1.1|ROMK|ROMK1	11q24.3	potassium inwardly rectifying channel subfamily J member 1	Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
KCNJ10	chr1	159998651	160070483	-	ENSG00000177807.8	protein_coding	BIRK-10|KCNJ13-PEN|KIR1.2|KIR4.1|SESAME	1q23.2	potassium inwardly rectifying channel subfamily J member 10	This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008]
KCNJ11	chr11	17385859	17389331	-	ENSG00000187486.5	protein_coding	BIR|HHF2|IKATP|KIR6.2|MODY13|PHHI|PNDM2|TNDM3	11p15.1	potassium inwardly rectifying channel subfamily J member 11	Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]
KCNJ12	chr17	21376197	21419872	+	ENSG00000184185.9	protein_coding	IRK-2|IRK2|KCNJN1|Kir2.2|Kir2.2v|hIRK|hIRK1|hkir2.2x|kcnj12x	17p11.2	potassium inwardly rectifying channel subfamily J member 12	This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
KCNJ13	chr2	232766464	232776568	-	ENSG00000115474.6	protein_coding	KIR1.4|KIR7.1|LCA16|SVD	2q37.1	potassium inwardly rectifying channel subfamily J member 13	This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
KCNJ14	chr19	48455509	48466980	+	ENSG00000182324.6	protein_coding	IRK4|KIR2.4	19q13.33	potassium inwardly rectifying channel subfamily J member 14	Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel, and probably has a role in controlling the excitability of motor neurons. [provided by RefSeq, Feb 2013]
KCNJ15	chr21	38157034	38307357	+	ENSG00000157551.17	protein_coding	IRKK|KIR1.3|KIR4.2	21q22.13-q22.2	potassium inwardly rectifying channel subfamily J member 15	Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Eight transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2013]
KCNJ16	chr17	70053429	70135608	+	ENSG00000153822.13	protein_coding	BIR9|HKTD|KIR5.1	17q24.3	potassium inwardly rectifying channel subfamily J member 16	Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which tends to allow potassium to flow into rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. It may function in fluid and pH balance regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
KCNJ2	chr17	70168673	70180048	+	ENSG00000123700.4	protein_coding	ATFB9|HHBIRK1|HHIRK1|IRK1|KIR2.1|LQT7|SQT3	17q24.3	potassium inwardly rectifying channel subfamily J member 2	Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]
KCNJ2-AS1	chr17	70166961	70169402	-	ENSG00000267365.1	antisense	-	17q24.3	KCNJ2 antisense RNA 1	-
KCNJ3	chr2	154698299	154858352	+	ENSG00000162989.4	protein_coding	GIRK1|KGA|KIR3.1	2q24.1	potassium inwardly rectifying channel subfamily J member 3	Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Downs syndrome, ataxia, and Parkinsons disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012]
KCNJ4	chr22	38426327	38455199	-	ENSG00000168135.4	protein_coding	HIR|HIRK2|HRK1|IRK-3|IRK3|Kir2.3	22q13.1	potassium inwardly rectifying channel subfamily J member 4	Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
KCNJ5	chr11	128891356	128921035	+	ENSG00000120457.11	protein_coding	CIR|GIRK4|KATP1|KIR3.4|LQT13	11q24.3	potassium inwardly rectifying channel subfamily J member 5	This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric. It is controlled by G-proteins and has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Naturally occurring mutations in this gene are associated with aldosterone-producing adenomas. [provided by RefSeq, Aug 2017]
KCNJ5-AS1	chr11	 128899565	128906231	-	ENSG00000174370	ncRNA	C11orf45	11q24.3	KCNJ5 antisense RNA 1	-
KCNJ6	chr21	37607376	37916446	-	ENSG00000157542.9	protein_coding	BIR1|GIRK-2|GIRK2|KATP-2|KATP2|KCNJ7|KIR3.2|KPLBS|hiGIRK2	21q22.13	potassium inwardly rectifying channel subfamily J member 6	This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015]
KCNJ9	chr1	160081570	160090563	+	ENSG00000162728.4	protein_coding	GIRK3|KIR3.3	1q23.2	potassium inwardly rectifying channel subfamily J member 9	Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. It associates with another G-protein-activated potassium channel to form a heteromultimeric pore-forming complex. [provided by RefSeq, Jul 2008]
KCNK1	chr1	233614004	233672512	+	ENSG00000135750.14	protein_coding	DPK|HOHO|K2P1|K2p1.1|KCNO1|TWIK-1|TWIK1	1q42.2	potassium two pore domain channel subfamily K member 1	This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]
KCNK10	chr14	88180103	88326907	-	ENSG00000100433.15	protein_coding	K2p10.1|PPP1R97|TREK-2|TREK2	14q31.3	potassium two pore domain channel subfamily K member 10	The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations, and is stimulated strongly by arachidonic acid and to a lesser degree by membrane stretching, intracellular acidification, and general anaesthetics. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008]
KCNK15	chr20	44745780	44752313	+	ENSG00000124249.6	protein_coding	K2p15.1|KCNK11|KCNK14|KT3.3|TASK-5|TASK5|dJ781B1.1	20q13.12	potassium two pore domain channel subfamily K member 15	This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]
KCNK16	chr6	39314698	39322968	-	ENSG00000095981.10	protein_coding	K2p16.1|TALK-1|TALK1	6p21.2	potassium two pore domain channel subfamily K member 16	The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. This gene is expressed predominantly in the pancreas and is activated at alkaline pH. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008]
KCNK17	chr6	39299001	39314553	-	ENSG00000124780.13	protein_coding	K2p17.1|TALK-2|TALK2|TASK-4|TASK4	6p21.2	potassium two pore domain channel subfamily K member 17	The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations. This gene is activated at alkaline pH. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
KCNK3	chr2	26692690	26733420	+	ENSG00000171303.6	protein_coding	K2p3.1|OAT1|PPH4|TASK|TASK-1|TASK1|TBAK1	2p23.3	potassium two pore domain channel subfamily K member 3	This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene. [provided by RefSeq, Aug 2008]
KCNK4	chr11	64291302	64300031	+	ENSG00000182450.12	protein_coding	FHEIG|K2p4.1|TRAAK|TRAAK1	11q13.1	potassium two pore domain channel subfamily K member 4	This gene encodes a member of the TWIK-related arachidonic acid-stimulated two pore potassium channel subfamily. The encoded protein homodimerizes and functions as an outwardly rectifying channel. This channel is regulated by polyunsaturated fatty acids, temperature and mechanical deformation of the lipid membrane. This protein is expressed primarily in neural tissues and may be involved in regulating the noxious input threshold in dorsal root ganglia neurons. Alternate splicing results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream testis expressed 40 (TEX40) gene, as represented in GeneID: 106780802. [provided by RefSeq, Nov 2015]
KCNK4-TEX40	chr11	64291722	64304769	+	ENSG00000257069.6	processed_transcript	-	11q13.1	KCNK4-TEX40 readthrough	-
KCNK5	chr6	39188973	39229450	-	ENSG00000164626.8	protein_coding	K2p5.1|KCNK5b|TASK-2|TASK2	6p21.2	potassium two pore domain channel subfamily K member 5	This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubules and collecting ducts of the kidney. The protein is highly sensitive to external pH and this, in combination with its expression pattern, suggests it may play an important role in renal potassium transport. [provided by RefSeq, Jul 2008]
KCNK6	chr19	38319844	38332076	+	ENSG00000099337.4	protein_coding	K2p6.1|KCNK8|TOSS|TWIK-2|TWIK2	19q13.2	potassium two pore domain channel subfamily K member 6	This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. This channel protein, considered an open rectifier, is widely expressed. It is stimulated by arachidonic acid, and inhibited by internal acidification and volatile anaesthetics. [provided by RefSeq, Jul 2008]
KCNK7	chr11	65592855	65595996	-	ENSG00000173338.12	protein_coding	K2p7.1|TWIK3	11q13.1	potassium two pore domain channel subfamily K member 7	This gene encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel; however, it may require other non-pore-forming proteins for activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
KCNMA1	chr10	76869601	77638369	-	ENSG00000156113.22	protein_coding	BKTM|CADEDS|IEG16|KCa1.1|LIWAS|MaxiK|PNKD3|SAKCA|SLO|SLO-ALPHA|SLO1|bA205K10.1|hSlo|mSLO1	10q22.3	potassium calcium-activated channel subfamily M alpha 1	MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
KCNMB2	chr3	178272932	178844429	+	ENSG00000197584.11	protein_coding	-	3q26.32	potassium calcium-activated channel subfamily M regulatory beta subunit 2	Biased expression in ovary (RPKM 5.5), adrenal (RPKM 2.4) and 8 other tissues
KCNMB2-AS1	chr3	178526505	178860405	-	ENSG00000237978.5	antisense	-	3q26.32	KCNMB2 antisense RNA 1	-
KCNMB3	chr3	179236691	179267002	-	ENSG00000171121.16	protein_coding	BKBETA3|HBETA3|K(VCA)BETA-3|KCNMB2|KCNMBL|SLO-BETA-3|SLOBETA3	3q26.32	potassium calcium-activated channel subfamily M regulatory beta subunit 3	MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which may partially inactivate or slightly decrease the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 22. [provided by RefSeq, Jul 2009]
KCNMB4	chr12	70366276	70434292	+	ENSG00000135643.4	protein_coding	-	12q15	potassium calcium-activated channel subfamily M regulatory beta subunit 4	Broad expression in brain (RPKM 7.6), adrenal (RPKM 4.7) and 15 other tissues
KCNN3	chr1	154697455	154870280	-	ENSG00000143603.18	protein_coding	KCa2.3|SK3|SKCA3|ZLS3|hSK3	1q21.3	potassium calcium-activated channel subfamily N member 3	Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
KCNN4	chr19	43766533	43781257	-	ENSG00000104783.11	protein_coding	DHS2|IK|IK1|IKCA1|KCA4|KCa3.1|SK4|hIKCa1|hKCa4|hSK4	19q13.31	potassium calcium-activated channel subfamily N member 4	The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008]
KCNQ1	chr11	2444684	2849109	+	ENSG00000053918.15	protein_coding	ATFB1|ATFB3|JLNS1|KCNA8|KCNA9|KVLQT1|Kv1.9|Kv7.1|LQT|LQT1|RWS|SQT2|WRS	11p15.5-p15.4	potassium voltage-gated channel subfamily Q member 1	This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
KCNQ1-AS1	chr11	2840135	2861568	-	ENSG00000229414.2	antisense	-	11p15.4	KCNQ1 antisense RNA 1	-
KCNQ1OT1	chr11	2608328	2699994	-	ENSG00000269821.1	antisense	KCNQ1-AS2|KCNQ10T1|Kncq1|KvDMR1|KvLQT1-AS|LIT1|NCRNA00012	11p15.5	KCNQ1 opposite strand/antisense transcript 1	Human chromosomal region 11p15.5 contains two clusters of epigenetically-regulated genes that are expressed from only one chromosome in a parent-of-origin manner. Each cluster, or imprinted domain, is regulated by a functionally independent imprinting control region (ICR). The human CDKN1C/KCNQ1OT1 domain is regulated by an ICR located in an intron of KCNQ1, and contains at least eight genes that are expressed exclusively or preferentially from the maternally-inherited allele. The DNA of the ICR is specifically methylated on the maternally-inherited chromosome, and unmethylated on the paternally-inherited chromosome. The ICR contains the promoter of the KCNQ1OT1 gene that is exclusively expressed from the paternal allele. The KCNQ1OT1 transcript is the antisense to the KCNQ1 gene and is a unspliced long non-coding RNA. It interacts with chromatin and regulates transcription of multiple target genes through epigenetic modifications. The transcript is abnormally expressed from both chromosomes in most patients with Beckwith-Wiedemann syndrome, and the transcript also plays an important role in colorectal carcinogenesis. [provided by RefSeq, Apr 2012]
KCNQ2	chr20	63400210	63472677	-	ENSG00000075043.18	protein_coding	BFNC|DEE7|EBN|EBN1|ENB1|HNSPC|KCNA11|KV7.2	20q13.33	potassium voltage-gated channel subfamily Q member 2	The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability.  The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
KCNQ4	chr1	40784012	40840452	+	ENSG00000117013.14	protein_coding	DFNA2|DFNA2A|KV7.4	1p34.2	potassium voltage-gated channel subfamily Q member 4	The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
KCNQ5	chr6	72621792	73198851	+	ENSG00000185760.15	protein_coding	Kv7.5|MRD46	6q13	potassium voltage-gated channel subfamily Q member 5	This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
KCNRG	chr13	50015254	50020922	+	ENSG00000198553.8	protein_coding	DLTET	13q14.2	potassium channel regulator	This gene encodes a protein which regulates the activity of voltage-gated potassium channels. This gene is on chromosome 13 and overlaps the gene for tripartite motif containing 13 on the same strand. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
KCNS1	chr20	45092310	45101112	-	ENSG00000124134.8	protein_coding	Kv9.1	20q13.12	potassium voltage-gated channel modifier subfamily S member 1	Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. [provided by RefSeq, Jul 2008]
KCNS2	chr8	98427022	98432848	+	ENSG00000156486.7	protein_coding	KV9.2	8q22.2	potassium voltage-gated channel modifier subfamily S member 2	Biased expression in brain (RPKM 4.8), urinary bladder (RPKM 1.1) and 8 other tissues
KCNT1	chr9	135702185	135795508	+	ENSG00000107147.12	protein_coding	DEE14|EIEE14|ENFL5|KCa4.1|SLACK|Slo2.2|bA100C15.2	9q34.3	potassium sodium-activated channel subfamily T member 1	Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
KCNT2	chr1	196225779	196609225	-	ENSG00000162687.16	protein_coding	DEE57|EIEE57|KCa4.2|SLICK|SLO2.1	1q31.3	potassium sodium-activated channel subfamily T member 2	Broad expression in ovary (RPKM 1.6), lung (RPKM 0.9) and 22 other tissues
KCNV1	chr8	109963645	109975847	-	ENSG00000164794.8	protein_coding	HNKA|KCNB3|KV2.3|KV8.1	8q23.2	potassium voltage-gated channel modifier subfamily V member 1	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This protein is essentially present in the brain, and its role might be to inhibit the function of a particular class of outward rectifier potassium channel types. [provided by RefSeq, Jul 2008]
KCNV2	chr9	2717502	2730037	+	ENSG00000168263.8	protein_coding	KV11.1|Kv8.2|RCD3B	9p24.2	potassium voltage-gated channel modifier subfamily V member 2	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This member is identified as a silent subunit, and it does not form homomultimers, but forms heteromultimers with several other subfamily members. Through obligatory heteromerization, it exerts a function-altering effect on other potassium channel subunits. This protein is strongly expressed in pancreas and has a weaker expression in several other tissues. [provided by RefSeq, Jul 2008]
KCTD1	chr18	26454910	26657401	-	ENSG00000134504.12	protein_coding	C18orf5	18q11.2	potassium channel tetramerization domain containing 1	This gene encodes a protein containing a BTB (Broad-complex, tramtrack and bric a brac), also known as a POZ (POxvirus and zinc finger) protein-protein interaction domain. The encoded protein negatively regulates the AP-2 family of transcription factors and the Wnt signaling pathway. A mechanism for the modulation of Wnt signaling has been proposed in which the encoded protein enhances ubiquitination and degradation of the beta-catenin protein. Mutations in this gene have been identified in Scalp-ear-nipple (SEN) syndrome. [provided by RefSeq, May 2017]
KCTD10	chr12	109448656	109477544	-	ENSG00000110906.12	protein_coding	BTBD28|MSTP028|ULRO61|hBACURD3	12q24.11	potassium channel tetramerization domain containing 10	The protein encoded by this gene binds proliferating cell nuclear antigen (PCNA) and may be involved in DNA synthesis and cell proliferation. In addition, the encoded protein may be a tumor suppressor. Several protein-coding and non-protein coding transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
KCTD11	chr17	7351889	7354944	+	ENSG00000213859.4	protein_coding	C17orf36|KCASH1|REN|REN/KCTD11	17p13.1	potassium channel tetramerization domain containing 11	-
KCTD12	chr13	76880166	76886390	-	ENSG00000178695.5	protein_coding	C13orf2|PFET1|PFETIN	13q22.3	potassium channel tetramerization domain containing 12	-
KCTD13	chr16	29905012	29927035	-	ENSG00000174943.9	protein_coding	BACURD1|FKSG86|PDIP1|POLDIP1|hBACURD1	16p11.2	potassium channel tetramerization domain containing 13	Broad expression in testis (RPKM 12.8), brain (RPKM 4.9) and 23 other tissues
KCTD14	chr11	78015715	78046191	-	ENSG00000151364.16	protein_coding	-	11q14.1	potassium channel tetramerization domain containing 14	-
KCTD15	chr19	33795933	33815763	+	ENSG00000153885.14	protein_coding	-	19q13.11	potassium channel tetramerization domain containing 15	-
KCTD16	chr5	144170832	144485686	+	ENSG00000183775.10	protein_coding	-	5q31.3	potassium channel tetramerization domain containing 16	-
KCTD17	chr22	37051736	37063390	+	ENSG00000100379.17	protein_coding	-	22q12.3	potassium channel tetramerization domain containing 17	Broad expression in brain (RPKM 11.5), testis (RPKM 10.6) and 22 other tissues
KCTD19	chr16	67289428	67326763	-	ENSG00000168676.10	protein_coding	-	16q22.1	potassium channel tetramerization domain containing 19	-
KCTD2	chr17	75032575	75065889	+	ENSG00000180901.10	protein_coding	-	17q25.1	potassium channel tetramerization domain containing 2	-
KCTD20	chr6	36442767	36491143	+	ENSG00000112078.13	protein_coding	C6orf69|dJ108K11.3	6p21.31	potassium channel tetramerization domain containing 20	Ubiquitous expression in fat (RPKM 16.9), gall bladder (RPKM 16.8) and 25 other tissues
KCTD21	chr11	78171249	78188822	-	ENSG00000188997.7	protein_coding	KCASH2	11q14.1	potassium channel tetramerization domain containing 21	Ubiquitous expression in thyroid (RPKM 3.5), brain (RPKM 3.4) and 25 other tissues
KCTD3	chr1	215567392	215621807	+	ENSG00000136636.12	protein_coding	NY-REN-45	1q41	potassium channel tetramerization domain containing 3	This gene encodes a member of the potassium channel tetramerization-domain containing (KCTD) protein family. Members of this protein family regulate the biophysical characteristics of ion channels. In mouse, this protein interacts with hyperpolarization-activated cyclic nucleotide-gated channel complex 3 and enhances its cell surface expression and current density. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
KCTD5	chr16	2682475	2709030	+	ENSG00000167977.8	protein_coding	-	16p13.3	potassium channel tetramerization domain containing 5	-
KCTD6	chr3	58492114	58502360	+	ENSG00000168301.12	protein_coding	KCASH3	3p14.3	potassium channel tetramerization domain containing 6	Ubiquitous expression in brain (RPKM 6.8), endometrium (RPKM 3.6) and 25 other tissues
KCTD7	chr7	66628767	66649067	+	ENSG00000243335.9	protein_coding	CLN14|EPM3	7q11.21	potassium channel tetramerization domain containing 7	This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]
KCTD8	chr4	44173909	44448807	-	ENSG00000183783.6	protein_coding	-	4p13	potassium channel tetramerization domain containing 8	-
KCTD9	chr8	25427847	25458476	-	ENSG00000104756.15	protein_coding	BTBD27	8p21.2	potassium channel tetramerization domain containing 9	Ubiquitous expression in heart (RPKM 8.3), esophagus (RPKM 7.8) and 25 other tissues
KCTD9P1	chr17	20111824	20112990	+	ENSG00000225014.1	transcribed_processed_pseudogene	HsT38306	17p11.2	potassium channel tetramerization domain containing 9 pseudogene 1	-
KDELR1	chr19	48382570	48391553	-	ENSG00000105438.8	protein_coding	ERD2|ERD2.1|HDEL|PM23	19q13.33	KDEL endoplasmic reticulum protein retention receptor 1	Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, which is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. The protein encoded by this gene was the first member of the family to be identified, and it encodes a protein structurally and functionally similar to the yeast ERD2 gene product. [provided by RefSeq, Jul 2008]
KDELR2	chr7	6445953	6484242	-	ENSG00000136240.9	protein_coding	ELP-1|ELP1|ERD2.2|OI21	7p22.1	KDEL endoplasmic reticulum protein retention receptor 2	Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR2 was the second member of the family to be identified, and it encodes a protein which is 83% identical to the KDELR1 gene product. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
KDELR3	chr22	38468062	38483447	+	ENSG00000100196.10	protein_coding	ERD2L3	22q13.1	KDEL endoplasmic reticulum protein retention receptor 3	This gene encodes a member of the KDEL endoplasmic reticulum protein retention receptor family. Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR3 was the third member of the family to be identified. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
KDF1	chr1	26949562	26960406	-	ENSG00000175707.8	protein_coding	C1orf172|ECTD12	1p36.11	keratinocyte differentiation factor 1	Broad expression in thyroid (RPKM 5.3), duodenum (RPKM 5.2) and 18 other tissues
KDM1A	chr1	23019448	23083689	+	ENSG00000004487.15	protein_coding	AOF2|BHC110|CPRF|KDM1|LSD1	1p36.12	lysine demethylase 1A	This gene encodes a nuclear protein containing a SWIRM domain, a FAD-binding motif, and an amine oxidase domain. This protein is a component of several histone deacetylase complexes, though it silences genes by functioning as a histone demethylase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
KDM1B	chr6	18155329	18223853	+	ENSG00000165097.13	protein_coding	AOF1|C6orf193|LSD2	6p22.3	lysine demethylase 1B	Flavin-dependent histone demethylases, such as KDM1B, regulate histone lysine methylation, an epigenetic mark that regulates gene expression and chromatin function (Karytinos et al., 2009 [PubMed 19407342]).[supplied by OMIM, Oct 2009]
KDM2A	chr11	67119269	67258087	+	ENSG00000173120.14	protein_coding	CXXC8|FBL11|FBL7|FBXL11|JHDM1A|LILINA	11q13.2	lysine demethylase 2A	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains at least six highly degenerated leucine-rich repeats. This family member plays a role in epigenetic silencing. It nucleates at CpG islands and specifically demethylates both mono- and di-methylated lysine-36 of histone H3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
KDM2B	chr12	121429097	121581015	-	ENSG00000089094.18	protein_coding	CXXC2|FBXL10|Fbl10|JHDM1B|PCCX2	12q24.31	lysine demethylase 2B	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
KDM3A	chr2	86440647	86492716	+	ENSG00000115548.16	protein_coding	JHDM2A|JHMD2A|JMJD1|JMJD1A|TSGA	2p11.2	lysine demethylase 3A	This gene encodes a zinc finger protein that contains a jumonji domain and may play a role in hormone-dependent transcriptional activation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
KDM3B	chr5	138352596	138437028	+	ENSG00000120733.13	protein_coding	5qNCA|C5orf7|DIJOS|JMJD1B|NET22	5q31.2	lysine demethylase 3B	Ubiquitous expression in ovary (RPKM 15.2), thyroid (RPKM 13.7) and 25 other tissues
KDM4A	chr1	43650158	43705515	+	ENSG00000066135.12	protein_coding	JHDM3A|JMJD2|JMJD2A|TDRD14A	1p34.2-p34.1	lysine demethylase 4A	This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein containing a JmjN domain, a JmjC domain, a JD2H domain, two TUDOR domains, and two PHD-type zinc fingers. This nuclear protein functions as a trimethylation-specific demethylase, converting specific trimethylated histone residues to the dimethylated form, and as a transcriptional repressor. [provided by RefSeq, Apr 2009]
KDM4A-AS1	chr1	43699765	43708138	-	ENSG00000236200.5	antisense	-	1p34.2-p34.1	KDM4A antisense RNA 1	-
KDM4B	chr19	4969113	5153595	+	ENSG00000127663.14	protein_coding	JMJD2B|MRD65|TDRD14B	19p13.3	lysine demethylase 4B	Ubiquitous expression in prostate (RPKM 5.2), thyroid (RPKM 5.0) and 25 other tissues
KDM4C	chr9	6720863	7175648	+	ENSG00000107077.18	protein_coding	GASC1|JHDM3C|JMJD2C|TDRD14C	9p24.1	lysine demethylase 4C	This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation. Chromosomal aberrations and changes in expression of this gene may be found in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
KDM5A	chr12	280129	389454	-	ENSG00000073614.12	protein_coding	RBBP-2|RBBP2|RBP2	12p13.33	lysine demethylase 5A	This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. The encoded protein interacts with many other proteins, including retinoblastoma protein, and is implicated in the transcriptional regulation of Hox genes and cytokines. This gene may play a role in tumor progression. [provided by RefSeq, Aug 2013]
KDM5B	chr1	202724491	202809470	-	ENSG00000117139.16	protein_coding	CT31|JARID1B|MRT65|PLU-1|PLU1|PPP1R98|PUT1|RBBP2H1A|RBP2-H1	1q32.1	lysine demethylase 5B	This gene encodes a lysine-specific histone demethylase that belongs to the jumonji/ARID domain-containing family of histone demethylases. The encoded protein is capable of demethylating tri-, di- and monomethylated lysine 4 of histone H3. This protein plays a role in the transcriptional repression or certain tumor suppressor genes and is upregulated in certain cancer cells. This protein may also play a role in genome stability and DNA repair. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
KDM6A	chrX	44873177	45112602	+	ENSG00000147050.14	protein_coding	KABUK2|UTX|bA386N14.2	Xp11.3	lysine demethylase 6A	This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
KDM6B	chr17	7839904	7854796	+	ENSG00000132510.10	protein_coding	JMJD3|NEDCFSA	17p13.1	lysine demethylase 6B	The protein encoded by this gene is a lysine-specific demethylase that specifically demethylates di- or tri-methylated lysine 27 of histone H3 (H3K27me2 or H3K27me3). H3K27 trimethylation is a repressive epigenetic mark controlling chromatin organization and gene silencing. This protein can also demethylate non-histone proteins such as retinoblastoma protein. Through its demethylation actvity this gene influences cellular differentiation and development, tumorigenesis, inflammatory diseases, and neurodegenerative diseases. This protein has two classical nuclear localization signals at its N-terminus. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
KDM7A	chr7	140084746	140177035	-	ENSG00000006459.10	protein_coding	JHDM1D	7q34	lysine demethylase 7A	Ubiquitous expression in bone marrow (RPKM 9.6), colon (RPKM 7.1) and 25 other tissues
KDM7A-DT	chr7	 140177261	140179640	+	ENSG00000260231	ncRNA	JHDM1D-AS1	7q34	KDM7A divergent transcript	-
KDM8	chr16	27203495	27221768	+	ENSG00000155666.11	protein_coding	JMJD5	16p12.1	lysine demethylase 8	This gene likely encodes a histone lysine demethylase. Studies of a similar protein in mouse indicate a potential role for this protein as a tumor suppressor. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]
KDR	chr4	55078477	55125589	-	ENSG00000128052.8	protein_coding	CD309|FLK1|VEGFR|VEGFR2	4q12	kinase insert domain receptor	Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. [provided by RefSeq, May 2009]
KDSR	chr18	63327726	63367510	-	ENSG00000119537.15	protein_coding	DHSR|EKVP4|FVT1|SDR35C1	18q21.33	3-ketodihydrosphingosine reductase	The protein encoded by this gene catalyzes the reduction of 3-ketodihydrosphingosine to dihydrosphingosine. The putative active site residues of the encoded protein are found on the cytosolic side of the endoplasmic reticulum membrane. A chromosomal rearrangement involving this gene is a cause of follicular lymphoma, also known as type II chronic lymphatic leukemia. The mutation of a conserved residue in the bovine ortholog causes spinal muscular atrophy. [provided by RefSeq, Jul 2008]
KEAP1	chr19	10486120	10503741	-	ENSG00000079999.13	protein_coding	INrf2|KLHL19	19p13.2	kelch like ECH associated protein 1	This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is followed by transportation of NF-E2-related factor 2 to the nucleus. This interaction results in the expression of the catalytic subunit of gamma-glutamylcysteine synthetase. Two alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]
KEL	chr7	142941114	142962681	-	ENSG00000197993.7	protein_coding	CD238|ECE3|Kell	7q34	Kell metallo-endopeptidase (Kell blood group)	This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains sequence and structural similarity to members of the neprilysin (M13) family of zinc endopeptidases. [provided by RefSeq, Jul 2008]
KERA	chr12	91050491	91057983	-	ENSG00000139330.5	protein_coding	CNA2|KTN|SLRR2B	12q21.33	keratocan	The protein encoded by this gene is a keratan sulfate proteoglycan that is involved in corneal transparency. Defects in this gene are a cause of autosomal recessive cornea plana 2 (CNA2).[provided by RefSeq, May 2010]
KHDC1	chr6	73241314	73310365	-	ENSG00000135314.12	protein_coding	C6orf147|C6orf148|Em:AC019205.8|KHDC1L|NDG1|bA257K9.4	6q13	KH domain containing 1	Broad expression in brain (RPKM 1.7), thyroid (RPKM 1.1) and 23 other tissues
KHDC4	chr1	 155913045	155934413	-	ENSG00000132680	protein-coding	BLOM7|KIAA0907|SNORA80EHG	1q22	KH domain containing 4, pre-mRNA splicing factor	Ubiquitous expression in lymph node (RPKM 16.6), spleen (RPKM 15.4) and 25 other tissues
KHDRBS1	chr1	32013829	32060850	+	ENSG00000121774.17	protein_coding	Sam68|p62|p68	1p35.2	KH RNA binding domain containing, signal transduction associated 1	This gene encodes a member of the K homology domain-containing, RNA-binding, signal transduction-associated protein family. The encoded protein appears to have many functions and may be involved in a variety of cellular processes, including alternative splicing, cell cycle regulation, RNA 3-end formation, tumorigenesis, and regulation of human immunodeficiency virus gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
KHDRBS2	chr6	61679960	62286227	-	ENSG00000112232.8	protein_coding	SLM-1|SLM1	6q11.1	KH RNA binding domain containing, signal transduction associated 2	Low expression observed in reference dataset
KHK	chr2	27086747	27100772	+	ENSG00000138030.12	protein_coding	-	2p23.3	ketohexokinase	Biased expression in kidney (RPKM 77.2), liver (RPKM 59.5) and 2 other tissues
KHNYN	chr14	24429286	24441834	+	ENSG00000100441.9	protein_coding	KIAA0323	14q12	KH and NYN domain containing	The protein encoded by this gene contains a ribonuclease NYN domain and belongs to the N4BP1 family. The protein is a cofactor for the zinc finger antiviral protein (ZAP protein) which targets viral RNA for degradation and restricts SARS-CoV-2 infection. [provided by RefSeq, Sep 2021]
KHSRP	chr19	6413348	6424794	-	ENSG00000088247.17	protein_coding	FBP2|FUBP2|KSRP|p75	19p13.3	KH-type splicing regulatory protein	The KHSRP gene encodes a multifunctional RNA-binding protein implicated in a variety of cellular processes, including transcription, alternative pre-mRNA splicing, and mRNA localization (Min et al., 1997 [PubMed 9136930]; Gherzi et al., 2004 [PubMed 15175153]).[supplied by OMIM, Apr 2010]
KIAA0040	chr1	175156987	175192999	-	ENSG00000235750.9	protein_coding	-	1q25.1	KIAA0040	-
KIAA0087	chr7	26533121	26538788	-	ENSG00000122548.5	lincRNA	-	7p15.2	KIAA0087 lncRNA	-
KIAA0100	chr17	28614440	28645454	-	ENSG00000007202.14	protein_coding	BCOX|BCOX1|CT101|FMP27	17q11.2	KIAA0100	This gene was initially characterized in human as having high expression levels in breast carcinomas and breast cancer cell lines. This gene also has increased expression in prostrate cancer cells relative to normal prostrate tissues. Expression of this gene is negatively regulated by direct binding of the microRNA miR-195 to its 3 UTR. miR-195 has been shown to modulate the invasiveness of prostrate cancer cells and xenograft metastases by downgrading expression of this gene. In mouse, the protein encoded by this gene was identified as an antigen on acute monocytic leukemia cells. In human, alternative splicing results in multiple transcript variants encoding distinct isoforms; some of these isoforms are predicted to contain an RNA pol II promoter FMP27 protein domain and a Golgi-body-localization APT1 domain. [provided by RefSeq, Apr 2017]
KIAA0232	chr4	6781375	6884170	+	ENSG00000170871.11	protein_coding	-	4p16.1	KIAA0232	-
KIAA0319	chr6	24544104	24646155	-	ENSG00000137261.13	protein_coding	AAVR|DYLX2|DYX2|NMIG	6p22.3	KIAA0319	This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in this gene are associated with dyslexia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
KIAA0319L	chr1	35433490	35557950	-	ENSG00000142687.17	protein_coding	AAVR|AAVRL	1p34.3	KIAA0319 like	This gene is a candidate gene for dyslexia susceptibility.[provided by RefSeq, Apr 2009]
KIAA0408	chr6	127440343	127459391	-	ENSG00000189367.14	protein_coding	-	6q22.33	KIAA0408	-
KIAA0586	chr14	58427385	58551289	+	ENSG00000100578.14	protein_coding	JBTS23|SRTD14|Talpid3	14q23.1	KIAA0586	This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Aug 2016]
KIAA0753	chr17	6578148	6640927	-	ENSG00000198920.9	protein_coding	JBTS38|MNR|OFIP|SRTD21	17p13.1	KIAA0753	This gene encodes a subunit of a protein complex that regulates ciliogenesis and cilia maintenance. The encoded protein has also been shown to regulate centriolar duplication. Mutations in this gene cause an orofaciodigital syndrome and a form of Joubert syndrome in human patients. [provided by RefSeq, May 2017]
KIAA0895L	chr16	67175602	67184040	-	ENSG00000196123.12	protein_coding	-	16q22.1	KIAA0895 like	-
KIAA0930	chr22	45190338	45240769	-	ENSG00000100364.18	protein_coding	C22orf9|LSC3	22q13.31	KIAA0930	Ubiquitous expression in brain (RPKM 20.3), skin (RPKM 12.7) and 24 other tissues
KIAA1109	chr4	122152333	122362758	+	ENSG00000138688.15	protein_coding	ALKKUCS|FSA|Tweek	4q27	KIAA1109	This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009]
KIAA1143	chr3	44737661	44761662	-	ENSG00000163807.5	protein_coding	-	3p21.31	KIAA1143	-
KIAA1191	chr5	176346061	176361968	-	ENSG00000122203.14	protein_coding	p33MONOX|p60MONOX	5q35.2	KIAA1191	Ubiquitous expression in kidney (RPKM 91.5), ovary (RPKM 39.0) and 25 other tissues
KIAA1328	chr18	36829106	37232172	+	ENSG00000150477.14	protein_coding	-	18q12.2	KIAA1328	-
KIAA1522	chr1	32741885	32774970	+	ENSG00000162522.10	protein_coding	-	1p35.1	KIAA1522	-
KIAA1549	chr7	138831381	138981318	-	ENSG00000122778.9	protein_coding	RP86	7q34	KIAA1549	The protein encoded by this gene belongs to the UPF0606 family. This gene has been found to be fused to the BRAF oncogene in many cases of pilocytic astrocytoma. The fusion results from 2Mb tandem duplications at 7q34. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
KIAA1549L	chr11	33542072	33674102	+	ENSG00000110427.14	protein_coding	C11orf41|C11orf69|G2	11p13	KIAA1549 like	Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
KIAA1586	chr6	57046532	57055239	+	ENSG00000168116.13	protein_coding	-	6p12.1	KIAA1586	-
KIAA1614	chr1	180913154	180951614	+	ENSG00000135835.11	protein_coding	-	1q25.3	KIAA1614	-
KIAA1614-AS1	chr1	180949699	180954887	-	ENSG00000232586.1	antisense	-	1q25.3	KIAA1614 antisense RNA 1	-
KIAA1671	chr22	24952730	25197448	+	ENSG00000197077.13	protein_coding	-	22q11.23	KIAA1671	-
KIAA1755	chr20	38210488	38260772	-	ENSG00000149633.11	protein_coding	-	20q11.23	KIAA1755	-
KIAA1958	chr9	112486847	112669397	+	ENSG00000165185.14	protein_coding	-	9q32	KIAA1958	-
KIAA2012	chr2	202073289	202205203	+	ENSG00000182329.12	protein_coding	-	2q33.1	KIAA2012	-
KIAA2013	chr1	11919591	11926428	-	ENSG00000116685.15	protein_coding	-	1p36.22	KIAA2013	-
KIAA2026	chr9	5881596	6007901	-	ENSG00000183354.11	protein_coding	-	9p24.1	KIAA2026	-
KIF11	chr10	92593286	92655395	+	ENSG00000138160.5	protein_coding	EG5|HKSP|KNSL1|MCLMR|TRIP5	10q23.33	kinesin family member 11	This gene encodes a motor protein that belongs to the kinesin-like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis. [provided by RefSeq, Jul 2008]
KIF13A	chr6	17759183	17987623	-	ENSG00000137177.19	protein_coding	RBKIN|bA500C11.2	6p22.3	kinesin family member 13A	This gene encodes a member of the kinesin family of microtubule-based motor proteins that function in the positioning of endosomes. This family member can direct mannose-6-phosphate receptor-containing vesicles from the trans-Golgi network to the plasma membrane, and it is necessary for the steady-state distribution of late endosomes/lysosomes. It is also required for the translocation of FYVE-CENT and TTC19 from the centrosome to the midbody during cytokinesis, and it plays a role in melanosome maturation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
KIF14	chr1	200551497	200620734	-	ENSG00000118193.11	protein_coding	MCPH20|MKS12	1q32.1	kinesin family member 14	This gene encodes a member of the kinesin-3 superfamily of microtubule motor proteins. These proteins are involved in numerous processes including vesicle transport, chromosome segregation, mitotic spindle formation, and cytokinesis. In human HeLa-S3 and 293T cells, this protein is localized to the cytoplasm during interphase, to the spindle poles and spindle microtubules during mitosis, and to the midbody during cytokinesis. An internal motor domain displays microtubule-dependent ATPase activity, consistent with its function as a microtubule motor protein. Knockdown of this gene results in failed cytokinesis with endoreplication, which results in multinucleated cells. This gene has been identified as a likely oncogene in breast, lung and ovarian cancers, as well as retinoblastomas and gliomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
KIF15	chr3	44761717	44873376	+	ENSG00000163808.16	protein_coding	HKLP2|KLP2|KNSL7|NY-BR-62	3p21.31	kinesin family member 15	Biased expression in testis (RPKM 8.0), bone marrow (RPKM 4.1) and 13 other tissues
KIF16B	chr20	16272104	16573434	-	ENSG00000089177.18	protein_coding	C20orf23|KISC20ORF|SNX23	20p12.1	kinesin family member 16B	The protein encoded by this gene is a kinesin-like protein that may be involved in intracellular trafficking. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
KIF17	chr1	20664014	20718017	-	ENSG00000117245.12	protein_coding	KIF17B|KIF3X|KLP-2|OSM-3	1p36.12	kinesin family member 17	Biased expression in testis (RPKM 11.7), spleen (RPKM 7.5) and 6 other tissues
KIF18A	chr11	28020620	28108308	-	ENSG00000121621.6	protein_coding	MS-KIF18A|PPP1R99	11p14.1	kinesin family member 18A	KIF18A is a member of the kinesin superfamily of microtubule-associated molecular motors (see MIM 148760) that use hydrolysis of ATP to produce force and movement along microtubules (Luboshits and Benayahu, 2005 [PubMed 15878648]).[supplied by OMIM, Aug 2008]
KIF18B	chr17	44924709	44947711	-	ENSG00000186185.13	protein_coding	-	17q21.31	kinesin family member 18B	-
KIF19	chr17	74326210	74355820	+	ENSG00000196169.14	protein_coding	KIF19A	17q25.1	kinesin family member 19	Broad expression in spleen (RPKM 3.3), duodenum (RPKM 1.5) and 14 other tissues
KIF1A	chr2	240713764	240820308	-	ENSG00000130294.15	protein_coding	ATSV|C2orf20|HSN2C|MRD9|NESCAVS|SPG30|UNC104	2q37.3	kinesin family member 1A	The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]
KIF1B	chr1	10210805	10381603	+	ENSG00000054523.17	protein_coding	CMT2|CMT2A|CMT2A1|HMSNII|KLP|NBLST1	1p36.22	kinesin family member 1B	This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1. [provided by RefSeq, Jul 2008]
KIF1C	chr17	4997948	5028401	+	ENSG00000129250.11	protein_coding	LTXS1|SATX2|SAX2|SPAX2|SPG58	17p13.2	kinesin family member 1C	The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. Mutations in this gene are a cause of spastic ataxia 2, autosomal recessive. [provided by RefSeq, May 2014]
KIF20A	chr5	138178719	138187715	+	ENSG00000112984.11	protein_coding	MKLP2|RAB6KIFL|RCM6	5q31.2	kinesin family member 20A	Broad expression in testis (RPKM 7.6), bone marrow (RPKM 5.2) and 14 other tissues
KIF20B	chr10	89701610	89774939	+	ENSG00000138182.14	protein_coding	CT90|KRMP1|MPHOSPH1|MPP-1|MPP1	10q23.31	kinesin family member 20B	Broad expression in testis (RPKM 5.3), lymph node (RPKM 5.3) and 24 other tissues
KIF21A	chr12	39293228	39443390	-	ENSG00000139116.18	protein_coding	CFEOM1|FEOM1|FEOM3A	12q12	kinesin family member 21A	This gene encodes a member of the KIF4 subfamily of kinesin-like motor proteins. The encoded protein is characterized by an N-terminal motor domain a coiled-coil stalk domain and a C-terminal WD-40 repeat domain. This protein may be involved in microtubule dependent transport. Mutations in this gene are the cause of congenital fibrosis of extraocular muscles-1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
KIF21B	chr1	200969390	201023700	-	ENSG00000116852.14	protein_coding	-	1q32.1	kinesin family member 21B	Biased expression in bone marrow (RPKM 12.6), brain (RPKM 10.5) and 11 other tissues
KIF22	chr16	29790719	29805385	+	ENSG00000079616.12	protein_coding	A-328A3.2|KID|KNSL4|OBP|OBP-1|OBP-2|SEMDJL2	16p11.2	kinesin family member 22	The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. The C-terminal half of this protein has been shown to bind DNA. Studies with the Xenopus homolog suggests its essential role in metaphase chromosome alignment and maintenance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
KIF24	chr9	34252381	34311371	-	ENSG00000186638.16	protein_coding	C9orf48|bA571F15.4	9p13.3	kinesin family member 24	This gene encodes a member of the kinesin superfamily of microtubule-based motor proteins which are involved in the intracellular transport of membranous organelles, protein complexes, and mRNAs. They also play critical roles in mitosis, morphogenesis, and signal transduction. The encoded protein contains an N-terminal sterile alpha motif (SAM) domain and an ATP-binding kinesin motor domain. It binds centriolar coiled coil protein 110 and centrosomal protein 97 and localizes to the mother centriole to regulate ciliogenesis by controlling microtubule polymerization. [provided by RefSeq, Mar 2017]
KIF25	chr6	167996241	168045089	+	ENSG00000125337.16	protein_coding	KNSL3	6q27	kinesin family member 25	The protein encoded by this gene is a member of the kinesin-like protein family. Protein family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. However, the particular function of this gene product has not yet been determined. Two alternatively spliced transcript variants which encode products have been described. Other splice variants have been found that lack exon 2 and the initiation codon for translation. [provided by RefSeq, Jul 2008]
KIF26A	chr14	104138723	104180894	+	ENSG00000066735.14	protein_coding	-	14q32.33	kinesin family member 26A	-
KIF27	chr9	83836698	83921465	-	ENSG00000165115.14	protein_coding	-	9q21.32	kinesin family member 27	Broad expression in testis (RPKM 7.5), thyroid (RPKM 3.1) and 21 other tissues
KIF2A	chr5	62306162	62537249	+	ENSG00000068796.16	protein_coding	CDCBM3|HK2|KIF2	5q12.1	kinesin family member 2A	The protein encoded by this gene is a plus end-directed motor required for normal mitotic progression. The encoded protein is required for normal spindle activity during mitosis and is necessary for normal brain development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
KIF2B	chr17	53822901	53825213	+	ENSG00000141200.7	protein_coding	-	17q22	kinesin family member 2B	-
KIF2C	chr1	44739818	44767767	+	ENSG00000142945.12	protein_coding	CT139|KNSL6|MCAK	1p34.1	kinesin family member 2C	This gene encodes a kinesin-like protein that functions as a microtubule-dependent molecular motor. The encoded protein can depolymerize microtubules at the plus end, thereby promoting mitotic chromosome segregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
KIF3A	chr5	132692628	132737638	-	ENSG00000131437.15	protein_coding	FLA10|KLP-20	5q31.1	kinesin family member 3A	Broad expression in brain (RPKM 20.7), testis (RPKM 8.8) and 19 other tissues
KIF3B	chr20	32277664	32335011	+	ENSG00000101350.7	protein_coding	FLA8|HH0048|KLP-11|RP89	20q11.21	kinesin family member 3B	The protein encoded by this gene acts as a heterodimer with kinesin family member 3A to aid in chromosome movement during mitosis and meiosis. The encoded protein is a plus end-directed microtubule motor and can interact with the SMC3 subunit of the cohesin complex. In addition, the encoded protein may be involved in the intracellular movement of membranous organelles. This protein and kinesin family member 3A form the kinesin II subfamily of the kinesin superfamily. [provided by RefSeq, Jul 2008]
KIF3C	chr2	25926596	25982749	-	ENSG00000084731.14	protein_coding	-	2p23.3	kinesin family member 3C	-
KIF5A	chr12	57549998	57586632	+	ENSG00000155980.11	protein_coding	ALS25|D12S1889|MY050|NEIMY|NKHC|SPG10	12q13.3	kinesin family member 5A	This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10. [provided by RefSeq, Jul 2008]
KIF5B	chr10	32009010	32056431	-	ENSG00000170759.10	protein_coding	HEL-S-61|KINH|KNS|KNS1|UKHC	10p11.22	kinesin family member 5B	Ubiquitous expression in testis (RPKM 44.1), gall bladder (RPKM 42.8) and 25 other tissues
KIF6	chr6	39329990	39725405	-	ENSG00000164627.17	protein_coding	C6orf102|dJ1043E3.1|dJ137F1.4|dJ188D3.1	6p21.2	kinesin family member 6	This gene encodes a member of a family of molecular motors which are involved in intracellular transport of protein complexes, membrane organelles, and messenger ribonucleic acid along microtubules. Kinesins function as homodimeric molecules with two N-terminal head domains that move along microtubules and two C-terminal tail domains that interact with the transported cargo, either directly or indirectly, through adapter molecules. This gene is ubiquitously expressed in coronary arteries and other vascular tissue. A naturally occurring mutation in this gene is associated with coronary heart disease. [provided by RefSeq, May 2017]
KIF7	chr15	89608789	89655451	-	ENSG00000166813.14	protein_coding	ACLS|AGBK|HLS2|JBTS12|UNQ340	15q26.1	kinesin family member 7	This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011]
KIF9	chr3	47228026	47283451	-	ENSG00000088727.12	protein_coding	-	3p21.31	kinesin family member 9	-
KIF9-AS1	chr3	47164497	47246601	+	ENSG00000227398.3	antisense	-	3p21.31	KIF9 antisense RNA 1	-
KIFAP3	chr1	169921326	170085208	-	ENSG00000075945.12	protein_coding	FLA3|KAP-1|KAP-3|KAP3|SMAP|Smg-GDS|dJ190I16.1	1q24.2	kinesin associated protein 3	The small G protein GDP dissociation stimulator (smg GDS) is a regulator protein having two activities on a group of small G proteins including the Rho and Rap1 family members and Ki-Ras; one is to stimulate their GDP/GTP exchange reactions, and the other is to inhibit their interactions with membranes. The protein encoded by this gene contains 9 Armadillo repeats and interacts with the smg GDS protein through these repeats. This protein, which is highly concentrated around the endoplasmic reticulum, is phosphorylated by v-src, and this phosphorylation reduces the affinity of the protein for smg GDS. It is thought that this protein serves as a linker between human chromosome-associated polypeptide (HCAP) and KIF3A/B, a kinesin superfamily protein in the nucleus, and that it plays a role in the interaction of chromosomes with an ATPase motor protein. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
KIFBP	chr10	 68988803	69016982	+	ENSG00000198954	protein-coding	KBP|KIAA1279|KIF1BP|TTC20	10q22.1	kinesin family binding protein	This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats. The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria. Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. [provided by RefSeq, Mar 2010]
KIFC1	chr6	33391536	33409924	+	ENSG00000237649.7	protein_coding	HSET|KNSL2	6p21.32	kinesin family member C1	Broad expression in bone marrow (RPKM 10.5), lymph node (RPKM 9.0) and 15 other tissues
KIFC2	chr8	144466043	144474202	+	ENSG00000167702.11	protein_coding	-	8q24.3	kinesin family member C2	-
KIFC3	chr16	57758217	57863053	-	ENSG00000140859.15	protein_coding	-	16q21	kinesin family member C3	Broad expression in kidney (RPKM 11.2), testis (RPKM 9.9) and 24 other tissues
KIN	chr10	7750962	7787981	-	ENSG00000151657.11	protein_coding	BTCD|KIN17|Rts2	10p14	Kin17 DNA and RNA binding protein	The protein encoded by this gene is a nuclear protein that forms intranuclear foci during proliferation and is redistributed in the nucleoplasm during the cell cycle. Short-wave ultraviolet light provokes the relocalization of the protein, suggesting its participation in the cellular response to DNA damage. Originally selected based on protein-binding with RecA antibodies, the mouse protein presents a limited similarity with a functional domain of the bacterial RecA protein, a characteristic shared by this human ortholog. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
KIR2DL4	chr19	54803535	54814517	+	ENSG00000189013.14	protein_coding	CD158D|G9P|KIR-103AS|KIR-2DL4|KIR103|KIR103AS	19q13.42	killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4	Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several framework genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the framework loci that is present on all haplotypes. Alternate alleles of this gene are represented on multiple alternate reference loci (ALT_REF_LOCs). Alternative splicing results in multiple transcript variants, some of which may not be annotated on the primary reference assembly. [provided by RefSeq, Jul 2016]
KIR3DL1	chr19	54816468	54830778	+	ENSG00000167633.18	protein_coding	CD158E1|KIR|KIR2DL5B|KIR3DL1/S1|NKAT-3|NKAT3|NKB1|NKB1B	19q13.42	killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 1	Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several framework genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. [provided by RefSeq, Jul 2008]
KIR3DL2	chr19	54850443	54867207	+	ENSG00000240403.5	protein_coding	3DL2|CD158K|KIR-3DL2|NKAT-4|NKAT4|NKAT4B|p140	19q13.42	killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2	Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several framework genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the framework loci that is present on all haplotypes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]
KIR3DX1	chr19	54532692	54545771	+	ENSG00000104970.10	protein_coding	KIR3DL0|LENG12	19q13.42	killer cell immunoglobulin like receptor, three Ig domains X1 (pseudogene)	Low expression observed in reference dataset
KIRREL1-IT1	chr1	 158025550	158032098	+	-	ncRNA	KIRREL-IT1	1q23.1	KIRREL1 intronic transcript 1	-
KIRREL2	chr19	35855861	35867109	+	ENSG00000126259.19	protein_coding	FILTRIN|NEPH3|NLG1	19q13.12	kirre like nephrin family adhesion molecule 2	This gene encodes a type I transmembrane protein and member of the immunoglobulin superfamily of cell adhesion molecules. The encoded protein localizes to adherens junctions in pancreatic beta cells and regulates insulin secretion. Autoantibodies against the encoded protein have been detected in serum from patients with type 1 diabetes. This gene may also play a role in glomerular development and decreased expression of this gene has been observed in human glomerular diseases. This gene and the related opposite-strand gene nephrin (GeneID: 527362) are regulated by a bidirectional promoter. [provided by RefSeq, Jul 2016]
KIRREL3	chr11	126423359	127003460	-	ENSG00000149571.11	protein_coding	KIRRE|MRD4|NEPH2|PRO4502	11q24.2	kirre like nephrin family adhesion molecule 3	The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. The protein encoded by this gene is a synaptic cell adhesion molecule with multiple extracellular immunoglobulin-like domains and a cytoplasmic PDZ domain-binding motif. Mutations in this gene are associated with several neurological and cognitive disorders. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
KIRREL3-AS2	chr11	126940746	126945090	+	ENSG00000254960.2	antisense	-	11q24.2	KIRREL3 antisense RNA 2	-
KISS1R	chr19	917287	921015	+	ENSG00000116014.9	protein_coding	AXOR12|CPPB1|GPR54|HH8|HOT7T175|KISS-1R	19p13.3	KISS1 receptor	The protein encoded by this gene is a galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq, Jul 2008]
KIT	chr4	54657918	54740715	+	ENSG00000157404.15	protein_coding	C-Kit|CD117|MASTC|PBT|SCFR	4q12	KIT proto-oncogene, receptor tyrosine kinase	This gene encodes a receptor tyrosine kinase. This gene was initially identified as a homolog of the feline sarcoma viral oncogene v-kit and is often referred to as proto-oncogene c-Kit. The canonical form of this glycosylated transmembrane protein has an N-terminal extracellular region with five immunoglobulin-like domains, a transmembrane region, and an intracellular tyrosine kinase domain at the C-terminus. Upon activation by its cytokine ligand, stem cell factor (SCF), this protein phosphorylates multiple intracellular proteins that play a role in in the proliferation, differentiation, migration and apoptosis of many cell types and thereby plays an important role in hematopoiesis, stem cell maintenance, gametogenesis, melanogenesis, and in mast cell development, migration and function. This protein can be a membrane-bound or soluble protein. Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous leukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2020]
KITLG	chr12	88492793	88580851	-	ENSG00000049130.14	protein_coding	DCUA|DFNA69|FPH2|FPHH|KL-1|Kitl|MGF|SCF|SF|SHEP7|SLF	12q21.32	KIT ligand	This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In adults, it functions pleiotropically, while mostly noted for its continued requirement in hematopoiesis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
KIZ	chr20	21125983	21246622	+	ENSG00000088970.15	protein_coding	C20orf19|HT013|Kizuna|NCRNA00153|PLK1S1|RP69	20p11.23	kizuna centrosomal protein	The protein encoded by this gene localizes to centrosomes, strengthening and stabilizing the pericentriolar region prior to spindle formation. The encoded protein usually remains with the mother centrosome after centrosomal duplication. Sevral transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
KL	chr13	33016433	33066145	+	ENSG00000133116.7	protein_coding	HFTC3|KLA	13q13.1	klotho	This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008]
KLB	chr4	39406853	39451536	+	ENSG00000134962.6	protein_coding	BKL	4p14	klotho beta	Biased expression in fat (RPKM 16.3), liver (RPKM 5.1) and 2 other tissues
KLC1	chr14	103561896	103714249	+	ENSG00000126214.21	protein_coding	KLC|KNS2|KNS2A	14q32.33	kinesin light chain 1	Conventional kinesin is a tetrameric molecule composed of two heavy chains and two light chains, and transports various cargos along microtubules toward their plus ends. The heavy chains provide the motor activity, while the light chains bind to various cargos. This gene encodes a member of the kinesin light chain family. It associates with kinesin heavy chain through an N-terminal domain, and six tetratricopeptide repeat (TPR) motifs are thought to be involved in binding of cargos such as vesicles, mitochondria, and the Golgi complex. Thus, kinesin light chains function as adapter molecules and not motors per se. Although previously named kinesin 2, this gene is not a member of the kinesin-2 / kinesin heavy chain subfamily of kinesin motor proteins. Extensive alternative splicing produces isoforms with different C-termini that are proposed to bind to different cargos; however, the full-length nature and/or biological validity of most of these variants have not been determined. [provided by RefSeq, Jul 2008]
KLC2	chr11	66257294	66267860	+	ENSG00000174996.11	protein_coding	-	11q13.2	kinesin light chain 2	Broad expression in brain (RPKM 19.0), testis (RPKM 14.0) and 23 other tissues
KLC3	chr19	45333434	45351520	+	ENSG00000104892.16	protein_coding	KLC2|KLC2L|KLCt|KNS2B	19q13.32	kinesin light chain 3	This gene encodes a member of the kinesin light chain gene family. Kinesins are molecular motors involved in the transport of cargo along microtubules, and are composed of two kinesin heavy chain (KHC) and two kinesin light chain (KLC) molecules. KLCs are thought to typically be involved in binding cargo and regulating kinesin activity. In the rat, a protein similar to this gene product is expressed in post-meiotic spermatids, where it associates with structural components of sperm tails and mitochondria. [provided by RefSeq, Jul 2008]
KLC4	chr6	43040777	43075099	+	ENSG00000137171.14	protein_coding	KNSL8|bA387M24.3	6p21.1	kinesin light chain 4	Ubiquitous expression in duodenum (RPKM 24.3), small intestine (RPKM 22.1) and 25 other tissues
KLF1	chr19	12884423	12887181	-	ENSG00000105610.4	protein_coding	EKLF|EKLF/KLF1	19p13.13	Kruppel like factor 1	This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009]
KLF10	chr8	102648779	102655902	-	ENSG00000155090.14	protein_coding	EGR-alpha|EGRA|TIEG|TIEG1	8q22.3	Kruppel like factor 10	This gene encodes a member of a family of proteins that feature C2H2-type zinc finger domains. The encoded protein is a transcriptional repressor that acts as an effector of transforming growth factor beta signaling. Activity of this protein may inhibit the growth of cancers, particularly pancreatic cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
KLF11	chr2	10042849	10054836	+	ENSG00000172059.10	protein_coding	FKLF|FKLF1|MODY7|TIEG2|Tieg3	2p25.1	Kruppel like factor 11	The protein encoded by this gene is a zinc finger transcription factor that binds to SP1-like sequences in epsilon- and gamma-globin gene promoters. This binding inhibits cell growth and causes apoptosis. Defects in this gene are a cause of maturity-onset diabetes of the young type 7 (MODY7). Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
KLF12	chr13	73686089	73995056	-	ENSG00000118922.17	protein_coding	AP-2rep|AP2REP|HSPC122	13q22.1	Kruppel like factor 12	Activator protein-2 alpha (AP-2 alpha) is a developmentally-regulated transcription factor and important regulator of gene expression during vertebrate development and carcinogenesis. The protein encoded by this gene is a member of the Kruppel-like zinc finger protein family and can repress expression of the AP-2 alpha gene by binding to a specific site in the AP-2 alpha gene promoter. Repression by the encoded protein requires binding with a corepressor, CtBP1. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
KLF13	chr15	31326855	31435665	+	ENSG00000169926.10	protein_coding	BTEB3|FKLF2|NSLP1|RFLAT-1|RFLAT1	15q13.3	Kruppel like factor 13	KLF13 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008]
KLF14	chr7	130731235	130734061	-	ENSG00000266265.2	protein_coding	BTEB5	7q32.2	Kruppel like factor 14	This intronless gene encodes a member of the Kruppel-like family of transcription factors. The encoded protein functions as a transcriptional co-repressor, and is induced by transforming growth factor-beta (TGF-beta) to repress TGF-beta receptor II gene expression. This gene exhibits imprinted expression from the maternal allele in embryonic and extra-embryonic tissues. [provided by RefSeq, Jul 2013]
KLF16	chr19	1852399	1863568	-	ENSG00000129911.8	protein_coding	BTEB4|DRRF|NSLP2	19p13.3	Kruppel like factor 16	Ubiquitous expression in brain (RPKM 6.7), colon (RPKM 5.5) and 25 other tissues
KLF17P1	chr12	62234390	62235515	-	ENSG00000258316.1	processed_pseudogene	-	12q14.1	Kruppel like factor 17 pseudogene 1	-
KLF2	chr19	16324817	16327874	+	ENSG00000127528.5	protein_coding	LKLF	19p13.11	Kruppel like factor 2	This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is expressed early in mammalian development and is found in many different cell types. The protein acts to bind the CACCC box found in the promoter of target genes to activate their transcription. It plays a role in many processes during development and disease including adipogenesis, embryonic erythropoiesis, epithelial integrity, inflammation and t-cell viability. [provided by RefSeq, Mar 2017]
KLF3	chr4	38664196	38701042	+	ENSG00000109787.12	protein_coding	BKLF	4p14	Kruppel like factor 3	Ubiquitous expression in colon (RPKM 22.1), gall bladder (RPKM 19.2) and 25 other tissues
KLF3-AS1	chr4	38612701	38664883	-	ENSG00000231160.9	processed_transcript	-	4p14	KLF3 antisense RNA 1	-
KLF4	chr9	107484852	107490482	-	ENSG00000136826.14	protein_coding	EZF|GKLF	9q31.2	Kruppel like factor 4	This gene encodes a protein that belongs to the Kruppel family of transcription factors. The encoded zinc finger protein is required for normal development of the barrier function of skin. The encoded protein is thought to control the G1-to-S transition of the cell cycle following DNA damage by mediating the tumor suppressor gene p53. Mice lacking this gene have a normal appearance but lose weight rapidly, and die shortly after birth due to fluid evaporation resulting from compromised epidermal barrier function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
KLF5	chr13	73054976	73077542	+	ENSG00000102554.13	protein_coding	BTEB2|CKLF|IKLF	13q22.1	Kruppel like factor 5	This gene encodes a member of the Kruppel-like factor subfamily of zinc finger proteins. The encoded protein is a transcriptional activator that binds directly to a specific recognition motif in the promoters of target genes. This protein acts downstream of multiple different signaling pathways and is regulated by post-translational modification. It may participate in both promoting and suppressing cell proliferation. Expression of this gene may be changed in a variety of different cancers and in cardiovascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
KLF6	chr10	3775996	3785281	-	ENSG00000067082.14	protein_coding	BCD1|CBA1|COPEB|CPBP|GBF|PAC1|ST12|ZF9	10p15.2	Kruppel like factor 6	This gene encodes a member of the Kruppel-like family of transcription factors. The zinc finger protein is a transcriptional activator, and functions as a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene, some of which are implicated in carcinogenesis. [provided by RefSeq, May 2009]
KLF7	chr2	207074137	207167267	-	ENSG00000118263.14	protein_coding	UKLF	2q33.3	Kruppel like factor 7	The protein encoded by this gene is a member of the Kruppel-like transcriptional regulator family. Members in this family regulate cell proliferation, differentiation and survival and contain three C2H2 zinc fingers at the C-terminus that mediate binding to GC-rich sites. This protein may contribute to the progression of type 2 diabetes by inhibiting insulin expression and secretion in pancreatic beta-cells and by deregulating adipocytokine secretion in adipocytes. A pseudogene of this gene is located on the long arm of chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
KLF7-IT1	chr2	207120884	207122044	-	ENSG00000237892.1	sense_intronic	-	2q33.3	KLF7 intronic transcript 1	-
KLF7P1	chr3	170952850	170953897	-	ENSG00000240704.1	processed_pseudogene	KLF7P	3q26.2	kruppel like factor 7 pseudogene 1	-
KLF9	chr9	70384597	70414624	-	ENSG00000119138.4	protein_coding	BTEB|BTEB1	9q21.12	Kruppel like factor 9	The protein encoded by this gene is a transcription factor that binds to GC box elements located in the promoter. Binding of the encoded protein to a single GC box inhibits mRNA expression while binding to tandemly repeated GC box elements activates transcription. [provided by RefSeq, Jul 2008]
KLHDC10	chr7	130070510	130135720	+	ENSG00000128607.13	protein_coding	slim	7q32.2	kelch domain containing 10	Ubiquitous expression in testis (RPKM 13.1), thyroid (RPKM 12.0) and 25 other tissues
KLHDC3	chr6	43014103	43021298	+	ENSG00000124702.17	protein_coding	PEAS|dJ20C7.3	6p21.1	kelch domain containing 3	The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2, a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to be expressed specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasma and meiotic chromatin, suggesting that this gene may be involved in meiotic recombination. [provided by RefSeq, Jun 2012]
KLHDC4	chr16	87696485	87765992	-	ENSG00000104731.13	protein_coding	-	16q24.2	kelch domain containing 4	-
KLHDC7A	chr1	18480982	18486126	+	ENSG00000179023.8	protein_coding	-	1p36.13	kelch domain containing 7A	-
KLHDC7B	chr22	50548033	50551023	+	ENSG00000130487.5	protein_coding	-	22q13.33	kelch domain containing 7B	-
KLHDC8A	chr1	205336065	205357090	-	ENSG00000162873.14	protein_coding	-	1q32.1	kelch domain containing 8A	Biased expression in ovary (RPKM 76.6) and adrenal (RPKM 7.3)
KLHDC8B	chr3	49171611	49176486	+	ENSG00000185909.14	protein_coding	CHL	3p21.31	kelch domain containing 8B	This gene encodes a protein which forms a distinct beta-propeller protein structure of kelch domains allowing for protein-protein interactions. Mutations in this gene have been associated with Hodgkin lymphoma. [provided by RefSeq, Sep 2010]
KLHL1	chr13	69700594	70108493	-	ENSG00000150361.11	protein_coding	MRP2	13q21.33	kelch like family member 1	The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).[supplied by OMIM, Feb 2010]
KLHL10	chr17	41835685	41848384	+	ENSG00000161594.6	protein_coding	SPGF11	17q21.2	kelch like family member 10	The protein encoded by this gene belongs to the kelch repeat-containing family, and contains an N-terminal BTB/POZ domain a BACK domain and six C-terminal kelch repeats. Kelch domains are thought to form a four stranded beta-sheet blade structure that can fold into a beta-propeller domain when multiple kelch repeats are found together. Mutations in this gene have been associated with oligozoospermia in some infertile males. [provided by RefSeq, Jul 2016]
KLHL11	chr17	41853545	41865431	-	ENSG00000178502.5	protein_coding	-	17q21.2	kelch like family member 11	-
KLHL12	chr1	202891100	202928636	-	ENSG00000117153.15	protein_coding	C3IP1|DKIR	1q32.1	kelch like family member 12	This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogrens syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
KLHL14	chr18	32672671	32773062	-	ENSG00000197705.9	protein_coding	-	18q12.1	kelch like family member 14	Biased expression in thyroid (RPKM 4.4), spleen (RPKM 2.8) and 10 other tissues
KLHL17	chr1	960587	965715	+	ENSG00000187961.13	protein_coding	AF	1p36.33	kelch like family member 17	The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010]
KLHL18	chr3	47282917	47346816	+	ENSG00000114648.11	protein_coding	-	3p21.31	kelch like family member 18	-
KLHL20	chr1	173714941	173786702	+	ENSG00000076321.10	protein_coding	KHLHX|KLEIP|KLHLX	1q25.1	kelch like family member 20	The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities. [provided by RefSeq, Jul 2008]
KLHL21	chr1	6590724	6614607	-	ENSG00000162413.16	protein_coding	-	1p36.31	kelch like family member 21	-
KLHL22	chr22	20441519	20495883	-	ENSG00000099910.16	protein_coding	KELCHL	22q11.21	kelch like family member 22	Ubiquitous expression in brain (RPKM 3.8), thyroid (RPKM 3.7) and 25 other tissues
KLHL23	chr2	169694488	169776989	+	ENSG00000213160.9	protein_coding	DITHP	2q31.1	kelch like family member 23	Ubiquitous expression in endometrium (RPKM 12.1), brain (RPKM 7.8) and 22 other tissues
KLHL24	chr3	183635568	183684477	+	ENSG00000114796.15	protein_coding	DRE1|EBSSH|KRIP6	3q27.1	kelch like family member 24	The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protein due to loss of the autoubiquitination function. The more stable mutant protein causes an increased ubiquitin and degradation of keratin 14, which leads to skin fragility and the potentially life-threatening disease epidermolysis bullosa. The encoded protein is also involved in the regulation of kainate receptors. [provided by RefSeq, Mar 2017]
KLHL25	chr15	85759323	85795030	-	ENSG00000183655.12	protein_coding	ENC-2|ENC2	15q25.3	kelch like family member 25	Broad expression in brain (RPKM 6.7), testis (RPKM 5.6) and 23 other tissues
KLHL26	chr19	18636965	18671714	+	ENSG00000167487.11	protein_coding	-	19p13.11	kelch like family member 26	-
KLHL29	chr2	23385217	23708611	+	ENSG00000119771.14	protein_coding	KBTBD9	2p24.1	kelch like family member 29	Ubiquitous expression in adrenal (RPKM 5.0), prostate (RPKM 2.9) and 24 other tissues
KLHL2P1	chr4	119334329	119378233	+	ENSG00000250412.1	unprocessed_pseudogene	MAVP1	4q26	kelch like family member 2 pseudogene 1	-
KLHL3	chr5	137617500	137736090	-	ENSG00000146021.14	protein_coding	PHA2D	5q31.2	kelch like family member 3	This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]
KLHL30	chr2	238138722	238152947	+	ENSG00000168427.8	protein_coding	-	2q37.3	kelch like family member 30	-
KLHL30-AS1	chr2	238152889	238155994	-	ENSG00000279484.1	TEC	C2orf19	2q37.3	KLHL30 antisense RNA 1	-
KLHL31	chr6	53647901	53665708	-	ENSG00000124743.5	protein_coding	BKLHD6|KBTBD1|KLHL|bA345L23.2	6p12.1	kelch like family member 31	Biased expression in heart (RPKM 15.6), fat (RPKM 6.5) and 1 other tissue
KLHL32	chr6	96924620	97140754	+	ENSG00000186231.16	protein_coding	BKLHD5|KIAA1900|UG0030H05|dJ21F7.1	6q16.1	kelch like family member 32	Biased expression in brain (RPKM 4.5), testis (RPKM 0.6) and 7 other tissues
KLHL35	chr11	75422394	75430629	-	ENSG00000149243.15	protein_coding	-	11q13.4	kelch like family member 35	-
KLHL36	chr16	84648525	84667686	+	ENSG00000135686.12	protein_coding	C16orf44	16q24.1	kelch like family member 36	Ubiquitous expression in thyroid (RPKM 7.4), testis (RPKM 6.8) and 25 other tissues
KLHL40	chr3	42685519	42692544	+	ENSG00000157119.11	protein_coding	KBTBD5|NEM8|SRYP|SYRP	3p22.1	kelch like family member 40	This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]
KLHL41	chr2	169509702	169526262	+	ENSG00000239474.6	protein_coding	KBTBD10|Krp1|SARCOSIN	2q31.1	kelch like family member 41	This gene is a member of the kelch-like family. The encoded protein contains a BACK domain, a BTB/POZ domain, and 5 Kelch repeats. This protein is thought to function in skeletal muscle development and maintenance. Mutations in this gene have been associated with nemaline myopathy (NM), a rare congenital muscle disorder. [provided by RefSeq, Mar 2015]
KLHL42	chr12	27780020	27803040	+	ENSG00000087448.9	protein_coding	Ctb9|KLHDC5	12p11.22	kelch like family member 42	Ubiquitous expression in brain (RPKM 7.6), endometrium (RPKM 5.0) and 25 other tissues
KLHL5	chr4	39045039	39126857	+	ENSG00000109790.16	protein_coding	-	4p14	kelch like family member 5	-
KLHL6	chr3	183487531	183555689	-	ENSG00000172578.11	protein_coding	-	3q27.1	kelch like family member 6	Biased expression in lymph node (RPKM 24.5), appendix (RPKM 11.9) and 10 other tissues
KLHL7	chr7	23105758	23177914	+	ENSG00000122550.17	protein_coding	CISS3|KLHL6|PERCHING|SBBI26	7p15.3	kelch like family member 7	This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]
KLHL8	chr4	87160103	87240314	-	ENSG00000145332.13	protein_coding	-	4q22.1	kelch like family member 8	-
KLHL9	chr9	21329671	21335380	-	ENSG00000198642.6	protein_coding	-	9p21.3	kelch like family member 9	-
KLK6	chr19	50958631	50969673	-	ENSG00000167755.14	protein_coding	Bssp|Klk7|PRSS18|PRSS9|SP59|hK6	19q13.41	kallikrein related peptidase 6	This gene encodes a member of the kallikrein subfamily of the peptidase S1 family of serine proteases. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. The encoded preproprotein is proteolytically processed to generate the mature protease. Expression of this protease is regulated by steroid hormones and may be elevated in multiple human cancers and in serum from psoriasis patients. The encoded protease may participate in the cleavage of amyloid precursor protein and alpha-synuclein, thus implicating this protease in Alzheimers and Parkinsons disease, respectively. This gene is located in a gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
KLK8	chr19	50996007	51002711	-	ENSG00000129455.15	protein_coding	HNP|NP|NRPN|PRSS19|TADG14	19q13.41	kallikrein related peptidase 8	Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in tandem in a gene cluster on chromosome 19. The encoded protein may be involved in proteolytic cascade in the skin and may serve as a biomarker for ovarian cancer. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
KLKB1	chr4	186208979	186258471	+	ENSG00000164344.15	protein_coding	KLK3|PKK|PKKD|PPK	4q35.2	kallikrein B1	This gene encodes a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. The encoded preproprotein present in plasma as a non-covalent complex with high molecular weight kininogen undergoes proteolytic processing mediated by activated coagulation factor XII to generate a disulfide-linked, heterodimeric serine protease comprised of heavy and light chains. Certain mutations in this gene cause prekallikrein deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
KLRA1P	chr12	10588063	10599669	-	ENSG00000256667.6	transcribed_unprocessed_pseudogene	KLRA1|KLRAP1|LY49L|Ly-49L|Ly49	12p13.2	killer cell lectin like receptor A1, pseudogene	Note: This locus was originally considered to be protein coding, but has been reclassified as a transcribed pseudogene because all associated transcripts are candidates for nonsense-mediated decay (NMD). PMID: 10369937 and 16492762 also state that this locus is likely to be a pseudogene. [13 Feb 2013]
KLRB1	chr12	9594551	9607886	-	ENSG00000111796.3	protein_coding	CD161|CLEC5B|NKR|NKR-P1|NKR-P1A|NKRP1A|hNKR-P1A	12p13.31	killer cell lectin like receptor B1	Natural killer (NK) cells are lymphocytes that mediate cytotoxicity and secrete cytokines after immune stimulation. Several genes of the C-type lectin superfamily, including the rodent NKRP1 family of glycoproteins, are expressed by NK cells and may be involved in the regulation of NK cell function. The KLRB1 protein contains an extracellular domain with several motifs characteristic of C-type lectins, a transmembrane domain, and a cytoplasmic domain. The KLRB1 protein is classified as a type II membrane protein because it has an external C terminus. [provided by RefSeq, Jul 2008]
KLRC1	chr12	10442264	10454685	-	ENSG00000134545.13	protein_coding	CD159A|NKG2|NKG2A	12p13.2	killer cell lectin like receptor C1	Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor family, also called NKG2 family, which is a group of transmembrane proteins preferentially expressed in NK cells. This family of proteins is characterized by the type II membrane orientation and the presence of a C-type lectin domain. This protein forms a complex with another family member, KLRD1/CD94, and has been implicated in the recognition of the MHC class I HLA-E molecules in NK cells. The genes of NKG2 family members form a killer cell lectin-like receptor gene cluster on chromosome 12. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jan 2015]
KLRC2	chr12	10426854	10442300	-	ENSG00000205809.9	protein_coding	CD159c|NKG2-C|NKG2C	12p13.2	killer cell lectin like receptor C2	Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The group, designated KLRC (NKG2) are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. KLRC2 alternative splice variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
KLRC3	chr12	10412312	10420595	-	ENSG00000205810.8	protein_coding	NKG2-E|NKG2E	12p13.2	killer cell lectin like receptor C3	Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. KLRC3 is a member of the NKG2 group which are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
KLRC4	chr12	10407382	10409757	-	ENSG00000183542.5	protein_coding	NKG2-F|NKG2F	12p13.2	killer cell lectin like receptor C4	Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. This gene is a member of the NKG2 group of genes that are expressed primarily in natural killer (NK) cells. These family members encode transmembrane proteins that are characterized by a type II membrane orientation (have an extracellular C-terminus) and the presence of a C-type lectin domain. This family member is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell lectin-like receptor subfamily K, member 1) family member. [provided by RefSeq, Dec 2010]
KLRD1	chr12	10226058	10329600	+	ENSG00000134539.16	protein_coding	CD94	12p13.2	killer cell lectin like receptor D1	Natural killer (NK) cells are a distinct lineage of lymphocytes that mediate cytotoxic activity and secrete cytokines upon immune stimulation. Several genes of the C-type lectin superfamily, including members of the NKG2 family, are expressed by NK cells and may be involved in the regulation of NK cell function. KLRD1 (CD94) is an antigen preferentially expressed on NK cells and is classified as a type II membrane protein because it has an external C terminus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]
KLRF1	chr12	9827481	9845007	+	ENSG00000150045.11	protein_coding	CLEC5C|NKp80	12p13.31	killer cell lectin like receptor F1	KLRF1, an activating homodimeric C-type lectin-like receptor (CTLR), is expressed on nearly all natural killer (NK) cells and stimulates their cytoxicity and cytokine release (Kuttruff et al., 2009 [PubMed 18922855]).[supplied by OMIM, Oct 2009]
KLRG1	chr12	8950044	9010760	+	ENSG00000139187.9	protein_coding	2F1|CLEC15A|MAFA|MAFA-2F1|MAFA-L|MAFA-LIKE	12p13.31	killer cell lectin like receptor G1	Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor (KLR) family, which is a group of transmembrane proteins preferentially expressed in NK cells. Studies in mice suggested that the expression of this gene may be regulated by MHC class I molecules. [provided by RefSeq, Jun 2016]
KLRK1	chr12	10372353	10391874	-	ENSG00000213809.8	protein_coding	CD314|D12S2489E|KLR|NKG2-D|NKG2D	12p13.2	killer cell lectin like receptor K1	Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The NKG2 gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. This gene encodes a member of the NKG2 family. The encoded transmembrane protein is characterized by a type II membrane orientation (has an extracellular C terminus) and the presence of a C-type lectin domain. It binds to a diverse family of ligands that include MHC class I chain-related A and B proteins and UL-16 binding proteins, where ligand-receptor interactions can result in the activation of NK and T cells. The surface expression of these ligands is important for the recognition of stressed cells by the immune system, and thus this protein and its ligands are therapeutic targets for the treatment of immune diseases and cancers. Read-through transcription exists between this gene and the upstream KLRC4 (killer cell lectin-like receptor subfamily C, member 4) family member in the same cluster. [provided by RefSeq, Dec 2010]
KMT2A	chr11	118436490	118526832	+	ENSG00000118058.20	protein_coding	ALL-1|CXXC7|HRX|HTRX1|MLL|MLL1|MLL1A|TRX1|WDSTS	11q23.3	lysine methyltransferase 2A	This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
KMT2B	chr19	35718019	35738878	+	ENSG00000272333.5	protein_coding	CXXC10|DYT28|HRX2|MLL1B|MLL2|MLL4|TRX2|WBP-7|WBP7	19q13.12	lysine methyltransferase 2B	This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008]
KMT2C	chr7	152134922	152436005	-	ENSG00000055609.17	protein_coding	HALR|KLEFS2|MLL3	7q36.1	lysine methyltransferase 2C	This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008]
KMT2D	chr12	49018975	49059774	-	ENSG00000167548.14	protein_coding	AAD10|ALR|CAGL114|KABUK1|KMS|MLL2|MLL4|TNRC21	12q13.12	lysine methyltransferase 2D	The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]
KMT2E	chr7	105014179	105114361	+	ENSG00000005483.20	protein_coding	HDCMC04P|MLL5|NKp44L|ODLURO	7q22.3	lysine methyltransferase 2E (inactive)	This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
KMT5A	chr12	123383773	123409358	+	ENSG00000183955.12	protein_coding	PR-Set7|PR/SET07|SET07|SET8|SETD8	12q24.31	lysine methyltransferase 5A	The protein encoded by this gene is a protein-lysine N-methyltransferase that can monomethylate Lys-20 of histone H4 to effect transcriptional repression of some genes. The encoded protein is required for cell proliferation and plays a role in chromatin condensation. [provided by RefSeq, May 2016]
KMT5B	chr11	68154863	68213828	-	ENSG00000110066.14	protein_coding	CGI-85|CGI85|MRD51|SUV420H1	11q13.2	lysine methyltransferase 5B	This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
KMT5C	chr19	55339853	55348120	+	ENSG00000133247.13	protein_coding	SUV420H2|Suv4-20h2	19q13.42	lysine methyltransferase 5C	SUV420H2 and the related enzyme SUV420H1 (MIM 610881) function as histone methyltransferases that specifically trimethylate nucleosomal histone H4 (see MIM 602822) on lysine-20 (K20) (Schotta et al., 2004 [PubMed 15145825]).[supplied by OMIM, Dec 2009]
KNCN	chr1	46545644	46551527	-	ENSG00000162456.9	protein_coding	Kino|L5	1p33	kinocilin	Low expression observed in reference dataset
KNDC1	chr10	133160447	133226412	+	ENSG00000171798.17	protein_coding	C10orf23|RASGEF2|Very-KIND|bB439H18.3|v-KIND	10q26.3	kinase non-catalytic C-lobe domain containing 1	The protein encoded by this gene is a Ras guanine nucleotide exchange factor that appears to negatively regulate dendritic growth in the brain. Knockdown of this gene in senescent umbilical vein endothelial cells partially reversed the senescence, showing that this gene could potentially be targeted by anti-aging therapies. [provided by RefSeq, Dec 2016]
KNG1	chr3	186717276	186743954	+	ENSG00000113889.11	protein_coding	BDK|BK|HAE6|HMWK|KNG	3q27.3	kininogen 1	This gene uses alternative splicing to generate two different proteins- high molecular weight kininogen (HMWK) and low molecular weight kininogen (LMWK). HMWK is essential for blood coagulation and assembly of the kallikrein-kinin system. Also, bradykinin, a peptide causing numerous physiological effects, is released from HMWK. Bradykinin also functions as an antimicrobial peptide with antibacterial and antifungal activity. In contrast to HMWK, LMWK is not involved in blood coagulation. Infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) reduces or depletes angiotensin converting enzyme 2 (ACE2), which results in an increase in levels of des-Arg(9)-bradykinin, a bioactive metabolite of bradykinin that is associated with lung injury and inflammation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2020]
KNL1	chr15	40594020	40664342	+	ENSG00000137812.19	protein_coding	AF15Q14|CASC5|CT29|D40|MCPH4|PPP1R55|Spc7|hKNL-1|hSpc105	15q15.1	kinetochore scaffold 1	The protein encoded by this gene is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jan 2013]
KNOP1	chr16	19701934	19718235	-	ENSG00000103550.13	protein_coding	101F10.1|C16orf88|FAM191A|TSG118	16p12.3	lysine rich nucleolar protein 1	The protein encoded by this gene is a nucleolar protein that interacts with zinc finger 106 protein. The encoded protein has several of the same characteristics as nucleostemin and may be involved in testis development. [provided by RefSeq, Feb 2017]
KNSTRN	chr15	40382721	40394246	+	ENSG00000128944.13	protein_coding	C15orf23|HSD11|ROCHIS|SKAP|TRAF4AF1	15q15.1	kinetochore localized astrin (SPAG5) binding protein	Broad expression in testis (RPKM 31.0), thyroid (RPKM 17.6) and 23 other tissues
KNTC1	chr12	122527246	122626396	+	ENSG00000184445.11	protein_coding	ROD	12q24.31	kinetochore associated 1	This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. Experimental evidence indicated that the encoded protein functioned in a similar manner to that of the Drosophila rough deal protein. [provided by RefSeq, Jul 2008]
KPNA1	chr3	122421949	122514945	-	ENSG00000114030.12	protein_coding	IPOA5|NPI-1|RCH2|SRP1	3q21.1	karyopherin subunit alpha 1	The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. This protein interacts with the recombination activating gene 1 (RAG1) protein and is a putative substrate of the RAG1 ubiquitin ligase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
KPNA2	chr17	68035519	68046842	+	ENSG00000182481.8	protein_coding	IPOA1|QIP2|RCH1|SRP1-alpha|SRP1alpha	17q24.2	karyopherin subunit alpha 2	The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS) which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear import have been identified in different systems. These include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2 also may play a role in V(D)J recombination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
KPNA2P3	chr17	64749918	64758603	-	ENSG00000266820.1	transcribed_unprocessed_pseudogene	-	17q24.1	karyopherin subunit alpha 2 pseudogene 3	-
KPNA3	chr13	49699307	49792921	-	ENSG00000102753.9	protein_coding	IPOA4|SRP1|SRP1gamma|SRP4|hSRP1	13q14.2	karyopherin subunit alpha 3	The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. [provided by RefSeq, Jan 2009]
KPNA4	chr3	160494995	160565588	-	ENSG00000186432.8	protein_coding	IPOA3|QIP1|SRP3	3q25.33	karyopherin subunit alpha 4	The nuclear import of karyophilic proteins is directed by short amino acid sequences termed nuclear localization signals (NLSs). Karyopherins, or importins, are cytoplasmic proteins that recognize NLSs and dock NLS-containing proteins to the nuclear pore complex. The protein encoded by this gene shares the sequence similarity with Xenopus importin-alpha and Saccharomyces cerevisiae Srp1. This protein is found to interact with the NLSs of DNA helicase Q1 and SV40 T antigen. [provided by RefSeq, Jul 2008]
KPNA5	chr6	116681187	116741866	+	ENSG00000196911.10	protein_coding	IPOA6|SRP6	6q22.1	karyopherin subunit alpha 5	The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC) which consists of 60-100 proteins and is probably 120 million daltons in molecular size. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion; larger molecules are transported by an active process. Most nuclear proteins contain short basic amino acid sequences known as nuclear localization signals (NLSs). KPNA5 protein belongs to the importin alpha protein family and is thought to be involved in NLS-dependent protein import into the nucleus. [provided by RefSeq, Jul 2008]
KPNA6	chr1	32108038	32176568	+	ENSG00000025800.13	protein_coding	IPOA7	1p35.2	karyopherin subunit alpha 6	Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. The protein encoded by this gene is a member of the importin alpha family. [provided by RefSeq, Jul 2008]
KPNA7	chr7	99173574	99207506	-	ENSG00000185467.7	protein_coding	IPOA8	7q22.1	karyopherin subunit alpha 7	The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import, but exhibits different nuclear localization signal binding specificity compared to other members of the family. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Jul 2016]
KPNB1	chr17	47649476	47685505	+	ENSG00000108424.9	protein_coding	IMB1|IPO1|IPOB|Impnb|NTF97	17q21.32	karyopherin subunit beta 1	Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
KPRP	chr1	152759561	152762052	+	ENSG00000203786.6	protein_coding	C1orf45	1q21.3	keratinocyte proline rich protein	This gene encodes a proline-rich skin protein possibly involved in keratinocyte differentiation. [provided by RefSeq, Jul 2016]
KPTN	chr19	47475144	47484268	-	ENSG00000118162.13	protein_coding	2E4|KICS4|MRT41	19q13.32	kaptin, actin binding protein	This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. This protein is part of the KICSTOR protein complex that localizes to lysosomes. Mutations in this gene result in an autosomal recessive form of intellectual disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2017]
KRAS	chr12	25204789	25250936	-	ENSG00000133703.11	protein_coding	'C-K-RAS|C-K-RAS|CFC2|K-RAS2A|K-RAS2B|K-RAS4A|K-RAS4B|K-Ras|K-Ras 2|KI-RAS|KRAS1|KRAS2|NS|NS3|OES|RALD|RASK2|c-Ki-ras|c-Ki-ras2	12p12.1	KRAS proto-oncogene, GTPase	This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [provided by RefSeq, Jul 2008]
KRBA1	chr7	149714781	149734575	+	ENSG00000133619.17	protein_coding	-	7q36.1	KRAB-A domain containing 1	-
KRBA2	chr17	8368637	8376711	-	ENSG00000184619.3	protein_coding	-	17p13.1	KRAB-A domain containing 2	-
KRBOX1	chr3	42809483	42942792	+	ENSG00000240747.7	protein_coding	-	3p22.1	KRAB box domain containing 1	Note: This gene LOC26172 (GeneID: 26172) was previously annotated as C3orf41, and a chimeric/readthrough mRNA that contained part of the neighboring gene (GeneID: 729085) as well as LOC26172 was associated with this GeneID. The two genes are now represented by separate entries, LOC26172 (GeneID: 26172) and C3orf41 (GeneID: 729085). [13 Feb 2013]
KRBOX1-AS1	chr3	42934252	42936785	-	ENSG00000206552.4	antisense	-	3p22.1	KRBOX1 antisense RNA 1	-
KRBOX5	chr16	 31713244	31761565	+	ENSG00000197302	protein-coding	ZNF720	16p11.2	KRAB box domain containing 5	-
KRCC1	chr2	88027205	88055729	-	ENSG00000172086.7	protein_coding	CHBP2	2p11.2	lysine rich coiled-coil 1	Ubiquitous expression in colon (RPKM 25.0), thyroid (RPKM 18.1) and 25 other tissues
KREMEN1	chr22	29073078	29168333	+	ENSG00000183762.12	protein_coding	ECTD13|KREMEN|KRM1	22q12.1	kringle containing transmembrane protein 1	This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor that functionally cooperates with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein is a component of a membrane complex that modulates canonical WNT signaling through lipoprotein receptor-related protein 6 (LRP6). It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]
KRI1	chr19	10553078	10566037	-	ENSG00000129347.19	protein_coding	-	19p13.2	KRI1 homolog	Ubiquitous expression in testis (RPKM 16.4), lymph node (RPKM 12.7) and 25 other tissues
KRIT1	chr7	92198969	92246166	-	ENSG00000001631.15	protein_coding	CAM|CCM1	7q21.2	KRIT1 ankyrin repeat containing	This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
KRR1	chr12	75490861	75511636	-	ENSG00000111615.13	protein_coding	HRB2|RIP-1	12q21.2	KRR1 small subunit processome component homolog	Ubiquitous expression in appendix (RPKM 20.3), bone marrow (RPKM 19.6) and 25 other tissues
KRT1	chr12	52674736	52680407	-	ENSG00000167768.4	protein_coding	CK1|EHK|EHK1|EPPK|K1|KRT1A|NEPPK	12q13.13	keratin 1	The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the spinous and granular layers of the epidermis with family member KRT10 and mutations in these genes have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
KRT10	chr17	40818117	40822595	-	ENSG00000186395.7	protein_coding	BCIE|BIE|CK10|EHK|K10|KPP	17q21.2	keratin 10	This gene encodes a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located within a cluster of keratin family members on chromosome 17q21. [provided by RefSeq, Jul 2008]
KRT10-AS1	chr17	 40819145	40836274	+	ENSG00000167920	ncRNA	TMEM99	17q21.2	KRT10 antisense RNA 1	-
KRT12	chr17	40861303	40867210	-	ENSG00000187242.4	protein_coding	K12|MECD1	17q21.2	keratin 12	KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008]
KRT14	chr17	41582279	41586921	-	ENSG00000186847.5	protein_coding	CK14|EBS3|EBS4|K14|NFJ	17q21.2	keratin 14	This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008]
KRT16	chr17	41609778	41615899	-	ENSG00000186832.8	protein_coding	CK16|FNEPPK|K16|K1CP|KRT16A|NEPPK|PC1	17q21.2	keratin 16	The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq, Jul 2008]
KRT16P1	chr17	18432051	18442895	+	ENSG00000214856.11	transcribed_unprocessed_pseudogene	KRT14P|KRT16P	17p11.2	keratin 16 pseudogene 1	Biased expression in skin (RPKM 6.6), esophagus (RPKM 3.1) and 3 other tissues
KRT16P3	chr17	20501513	20512357	-	ENSG00000214822.8	transcribed_unprocessed_pseudogene	KERSMCR	17p11.2	keratin 16 pseudogene 3	Biased expression in esophagus (RPKM 10.2), skin (RPKM 2.1) and 1 other tissue
KRT16P4	chr17	18450244	18475920	+	ENSG00000229526.2	transcribed_processed_pseudogene	-	17p11.2	keratin 16 pseudogene 4	-
KRT16P6	chr17	16817983	16822579	-	ENSG00000226145.7	transcribed_unprocessed_pseudogene	-	17p11.2	keratin 16 pseudogene 6	-
KRT17	chr17	41619437	41624842	-	ENSG00000128422.15	protein_coding	39.1|CK-17|K17|PC|PC2|PCHC1	17q21.2	keratin 17	This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. [provided by RefSeq, Aug 2008]
KRT17P1	chr17	16840743	16845883	-	ENSG00000131885.16	transcribed_unprocessed_pseudogene	-	17p11.2	keratin 17 pseudogene 1	-
KRT17P2	chr17	18426861	18431848	+	ENSG00000186831.11	transcribed_unprocessed_pseudogene	-	17p11.2	keratin 17 pseudogene 2	-
KRT17P5	chr17	18415728	18425097	+	ENSG00000205266.9	transcribed_unprocessed_pseudogene	-	17p11.2	keratin 17 pseudogene 5	-
KRT17P6	chr17	20512560	20517479	-	ENSG00000231645.2	transcribed_unprocessed_pseudogene	-	17p11.2	keratin 17 pseudogene 6	-
KRT18	chr12	52948871	52952901	+	ENSG00000111057.10	protein_coding	CK-18|CYK18|K18	12q13.13	keratin 18	KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
KRT18P1	chr6	28969130	28970460	-	ENSG00000228666.1	processed_pseudogene	dJ25J6.3	6p22.1	keratin 18 pseudogene 1	-
KRT18P13	chr9	97698922	97700734	+	ENSG00000214417.4	processed_pseudogene	KRT18L3	9q22.33	keratin 18 pseudogene 13	-
KRT18P17	chr3	12787393	12788671	-	ENSG00000213943.3	processed_pseudogene	-	3p25.2	keratin 18 pseudogene 17	-
KRT18P25	chr4	40020240	40021517	+	ENSG00000249064.1	processed_pseudogene	-	4p14	keratin 18 pseudogene 25	-
KRT18P26	chr2	74306728	74308008	-	ENSG00000229798.1	processed_pseudogene	-	2p13.1	keratin 18 pseudogene 26	-
KRT18P29	chr2	181961212	181962478	-	ENSG00000213958.2	processed_pseudogene	-	2q31.3	keratin 18 pseudogene 29	-
KRT18P31	chr5	36885206	36886497	+	ENSG00000249850.1	processed_pseudogene	-	5p13.2	keratin 18 pseudogene 31	-
KRT18P34	chr3	157162663	157163932	-	ENSG00000244515.1	processed_pseudogene	-	3q25.31	keratin 18 pseudogene 34	-
KRT18P38	chr6	19612755	19614036	+	ENSG00000214012.4	processed_pseudogene	-	6p22.3	keratin 18 pseudogene 38	-
KRT18P39	chr2	203764295	203765593	-	ENSG00000224791.1	processed_pseudogene	-	2q33.2	keratin 18 pseudogene 39	-
KRT18P4	chr20	49956745	49958032	+	ENSG00000229222.1	processed_pseudogene	dJ963K23.1	20q13.13	keratin 18 pseudogene 4	-
KRT18P42	chr5	109588338	109589592	+	ENSG00000214794.4	processed_pseudogene	-	5q21.3	keratin 18 pseudogene 42	-
KRT18P52	chr2	31822591	31823436	-	ENSG00000237007.4	processed_pseudogene	-	2p22.3	keratin 18 pseudogene 52	-
KRT18P60	chr12	65418731	65420027	-	ENSG00000215208.3	processed_pseudogene	-	12q14.3	keratin 18 pseudogene 60	-
KRT18P63	chr4	17911674	17912976	+	ENSG00000235413.3	processed_pseudogene	-	4p15.31	keratin 18 pseudogene 63	-
KRT18P67	chr9	122837557	122838820	+	ENSG00000233425.1	processed_pseudogene	-	9q33.2	keratin 18 pseudogene 67	-
KRT18P9	chr6	34189780	34191079	+	ENSG00000271231.1	processed_pseudogene	bA513I15.2	6p21.31	keratin 18 pseudogene 9	-
KRT2	chr12	52644558	52652164	-	ENSG00000172867.3	protein_coding	CK-2e|K2e|KRT2A|KRT2E|KRTE	12q13.13	keratin 2	The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is expressed largely in the upper spinous layer of epidermal keratinocytes and mutations in this gene have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
KRT20	chr17	40875941	40885227	-	ENSG00000171431.3	protein_coding	CD20|CK-20|CK20|K20|KRT21	17q21.2	keratin 20	The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This cytokeratin is a major cellular protein of mature enterocytes and goblet cells and is specifically expressed in the gastric and intestinal mucosa. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2008]
KRT222	chr17	40654665	40665181	-	ENSG00000213424.8	protein_coding	KA21|KRT222P	17q21.2	keratin 222	Predicted to enable structural molecule activity. Predicted to be located in intermediate filament. [provided by Alliance of Genome Resources, Apr 2022]
KRT223P	chr17	40717235	40721932	-	ENSG00000229028.2	transcribed_unprocessed_pseudogene	-	17q21.2	keratin 223, pseudogene	-
KRT23	chr17	40922696	40937634	-	ENSG00000108244.16	protein_coding	CK23|HAIK1|K23	17q21.2	keratin 23	The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
KRT24	chr17	40697991	40703750	-	ENSG00000167916.4	protein_coding	K24|KA24	17q21.2	keratin 24	This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jun 2009]
KRT25	chr17	40748021	40755332	-	ENSG00000204897.6	protein_coding	ARWH3|KRT24IRS1|KRT25A	17q21.2	keratin 25	This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]
KRT27	chr17	40776808	40782534	-	ENSG00000171446.6	protein_coding	K25IRS3|KRT25C	17q21.2	keratin 27	This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]
KRT31	chr17	41393724	41397592	-	ENSG00000094796.4	protein_coding	HA1|Ha-1|KRTHA1|hHa1	17q21.2	keratin 31	The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]
KRT32	chr17	41459811	41467429	-	ENSG00000108759.3	protein_coding	HA2|HKA2|KRTHA2|hHa2	17q21.2	keratin 32	The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]
KRT34	chr17	41377650	41382403	-	ENSG00000131737.5	protein_coding	HA4|Ha-4|K34|KRTHA4|hHa4	17q21.2	keratin 34	The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]
KRT35	chr17	41476689	41481140	-	ENSG00000197079.8	protein_coding	HA5|Ha-5|K35|KRTHA5|hHa5	17q21.2	keratin 35	The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]
KRT36	chr17	41486136	41492546	-	ENSG00000126337.13	protein_coding	HA6|KRTHA6|hHa6	17q21.2	keratin 36	The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]
KRT39	chr17	40958417	40966892	-	ENSG00000196859.7	protein_coding	CK-39|K39|KA35	17q21.2	keratin 39	This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]
KRT4	chr12	52806549	52814551	-	ENSG00000170477.12	protein_coding	CK-4|CK4|CYK4|K4|WSN1	12q13.13	keratin 4	The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in differentiated layers of the mucosal and esophageal epithelia with family member KRT13. Mutations in these genes have been associated with White Sponge Nevus, characterized by oral, esophageal, and anal leukoplakia. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
KRT6A	chr12	52487174	52493257	-	ENSG00000205420.10	protein_coding	CK-6C|CK-6E|CK6A|CK6C|CK6D|K6A|K6C|K6D|KRT6C|KRT6D|PC3	12q13.13	keratin 6A	The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. In addition, peptides from the C-terminal region of the protein have antimicrobial activity against bacterial pathogens. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Oct 2014]
KRT6B	chr12	52446651	52452126	-	ENSG00000185479.5	protein_coding	CK-6B|CK6B|K6B|KRTL1|PC2|PC4	12q13.13	keratin 6B	The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. Mutations in these genes have been associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
KRT7	chr12	52232520	52252186	+	ENSG00000135480.15	protein_coding	CK7|K2C7|K7|SCL	12q13.13	keratin 7	The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the simple epithelia lining the cavities of the internal organs and in the gland ducts and blood vessels. The genes encoding the type II cytokeratins are clustered in a region of chromosome 12q12-q13. Alternative splicing may result in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
KRT71	chr12	52543909	52553147	-	ENSG00000139648.6	protein_coding	HYPT13|K6IRS1|KRT6IRS|KRT6IRS1	12q13.13	keratin 71	Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]
KRT72	chr12	52585589	52601538	-	ENSG00000170486.10	protein_coding	CK-72|K6IRS2|K6irs|K72|KRT6|KRT6IRS2	12q13.13	keratin 72	Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells. The type II keratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This gene encodes a type II keratin that is specifically expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q12-q13. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2009]
KRT77	chr12	52689626	52703463	-	ENSG00000189182.9	protein_coding	K1B|KRT1B	12q13.13	keratin 77	Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial keratin that is expressed in the skin and eccrine sweat glands. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]
KRT8	chr12	52897187	52949954	-	ENSG00000170421.12	protein_coding	CARD2|CK-8|CK8|CYK8|K2C8|K8|KO	12q13.13	keratin 8	This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
KRT80	chr12	52168996	52192000	-	ENSG00000167767.13	protein_coding	KB20	12q13.13	keratin 80	Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This genes expression profile shows that it encodes a type II epithelial keratin, although structurally the encoded protein is more like a type II hair keratin. This protein is involved in cell differentiation, localizing near desmosomal plaques in earlier stages of differentiation but then dispersing throughout the cytoplasm in terminally differentiating cells. The type II keratins are clustered in a region of chromosome 12q13. Two transcript variants encoding two different fully functional isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
KRT83	chr12	52314301	52321398	-	ENSG00000170523.3	protein_coding	EKVP5|HB3|Hb-3|KRTHB3|MNLIX	12q13.13	keratin 83	The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex. [provided by RefSeq, Jul 2008]
KRT84	chr12	52377812	52385652	-	ENSG00000161849.3	protein_coding	HB4|KRTHB4	12q13.13	keratin 84	The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin is contained primarily in the filiform tongue papilla, among other hair keratins. [provided by RefSeq, Jul 2008]
KRT87P	chr12	52250466	52258867	-	ENSG00000135477.11	transcribed_unprocessed_pseudogene	HBD|KRT121P|KRTHBP4|psihHbD	12q13.13	keratin 87, pseudogene	-
KRT8P12	chr3	160565447	160569248	+	ENSG00000229320.3	transcribed_processed_pseudogene	KRT8L2	3q25.33	keratin 8 pseudogene 12	-
KRT8P26	chr11	65726939	65728214	+	ENSG00000214659.4	processed_pseudogene	-	11q13.1	keratin 8 pseudogene 26	-
KRT8P28	chr1	151949523	151950912	-	ENSG00000223810.2	processed_pseudogene	-	1q21.3	keratin 8 pseudogene 28	-
KRT8P29	chr1	203872574	203874187	-	ENSG00000236430.1	processed_pseudogene	-	1q32.1	keratin 8 pseudogene 29	-
KRT8P30	chr2	218953401	218954050	-	ENSG00000224928.2	processed_pseudogene	-	2q35	keratin 8 pseudogene 30	-
KRT8P33	chr5	123400922	123402344	-	ENSG00000250539.1	processed_pseudogene	-	5q23.2	keratin 8 pseudogene 33	-
KRT8P38	chr10	88727485	88728914	+	ENSG00000226358.1	processed_pseudogene	-	10q23.31	keratin 8 pseudogene 38	-
KRT8P41	chr11	9094377	9095890	+	ENSG00000213538.5	processed_pseudogene	-	11p15.4	keratin 8 pseudogene 41	-
KRT8P43	chr6	24598012	24599790	+	ENSG00000218186.2	processed_pseudogene	-	6p22.3	keratin 8 pseudogene 43	-
KRT8P45	chr1	157073257	157074703	+	ENSG00000224520.2	processed_pseudogene	-	1q23.1	keratin 8 pseudogene 45	-
KRT8P46	chr4	102728746	102730171	-	ENSG00000248971.2	processed_pseudogene	-	4q24	keratin 8 pseudogene 46	-
KRT8P47	chr1	44103306	44104703	-	ENSG00000271647.1	processed_pseudogene	-	1p34.1	keratin 8 pseudogene 47	-
KRT8P51	chr7	136938280	136938553	-	ENSG00000223657.2	processed_pseudogene	-	7q33	keratin 8 pseudogene 51	-
KRTAP1-1	chr17	41040559	41041461	-	ENSG00000188581.8	protein_coding	HB2A|KAP1.1|KAP1.1A|KAP1.1B|KAP1.6|KAP1.7|KRTAP1.1|KRTAP1A|hKAP1.7	17q21.2	keratin associated protein 1-1	This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]
KRTAP1-5	chr17	41026026	41027202	-	ENSG00000221852.4	protein_coding	KAP1.5|KRTAP1.5	17q21.2	keratin associated protein 1-5	This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]
KRTAP10-10	chr21	44637356	44638455	+	ENSG00000221859.2	protein_coding	KAP10.10|KAP18.10|KRTAP18-10|KRTAP18.10	21q22.3	keratin associated protein 10-10	-
KRTAP12-2	chr21	44666189	44666927	-	ENSG00000221864.4	protein_coding	KAP12.2|KRTAP12.2	21q22.3	keratin associated protein 12-2	-
KRTAP4-12	chr17	41123091	41124167	-	ENSG00000213416.3	protein_coding	KAP4.12|KRTAP4.12	17q21.2	keratin associated protein 4-12	This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]
KRTAP4-6	chr17	41139433	41140487	-	ENSG00000198090.3	protein_coding	KAP4.15|KAP4.6|KRTAP4-15|KRTAP4.15	17q21.2	keratin associated protein 4-6	-
KRTAP4-8	chr17	41096981	41098141	-	ENSG00000204880.7	protein_coding	KAP4.8|KRTAP4.8	17q21.2	keratin associated protein 4-8	-
KRTAP5-1	chr11	1584342	1585283	-	ENSG00000205869.2	protein_coding	KRN1L|KRTAP5.1	11p15.5	keratin associated protein 5-1	-
KRTAP5-5	chr11	1629775	1630707	+	ENSG00000185940.10	protein_coding	KRTAP5-11|KRTAP5.5	11p15.5	keratin associated protein 5-5	-
KRTCAP2	chr1	155169408	155173475	-	ENSG00000163463.11	protein_coding	KCP2	1q22	keratinocyte associated protein 2	Enables enzyme activator activity. Involved in protein N-linked glycosylation via arginine. Is active in oligosaccharyltransferase complex. [provided by Alliance of Genome Resources, Apr 2022]
KRTCAP3	chr2	27442366	27446481	+	ENSG00000157992.12	protein_coding	KCP3	2p23.3	keratinocyte associated protein 3	Broad expression in colon (RPKM 15.6), small intestine (RPKM 13.3) and 22 other tissues
KRTDAP	chr19	35487324	35495558	-	ENSG00000188508.10	protein_coding	KDAP|UNQ467	19q13.12	keratinocyte differentiation associated protein	This gene encodes a protein which may function in the regulation of keratinocyte differentiation and maintenance of stratified epithelia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
KSR1	chr17	27456714	27626438	+	ENSG00000141068.13	protein_coding	KSR|RSU2	17q11.2	kinase suppressor of ras 1	Ubiquitous expression in placenta (RPKM 8.2), endometrium (RPKM 5.8) and 23 other tissues
KSR2	chr12	117453012	117968983	-	ENSG00000171435.13	protein_coding	-	12q24.22-q24.23	kinase suppressor of ras 2	Biased expression in brain (RPKM 1.7), adrenal (RPKM 0.5) and 7 other tissues
KTN1	chr14	55559072	55701526	+	ENSG00000126777.17	protein_coding	CG1|KNT|MU-RMS-40.19	14q22.3	kinectin 1	This gene encodes an integral membrane protein that is a member of the kinectin protein family. The encoded protein is primarily localized to the endoplasmic reticulum membrane. This protein binds kinesin and may be involved in intracellular organelle motility. This protein also binds translation elongation factor-delta and may be involved in the assembly of the elongation factor-1 complex. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Aug 2012]
KTN1-AS1	chr14	55499278	55580110	-	ENSG00000186615.10	antisense	C14orf33|MYCLo-3	14q22.3	KTN1 antisense RNA 1	Low expression observed in reference dataset
KXD1	chr19	18557762	18569387	+	ENSG00000105700.10	protein_coding	BORCS4|C10orf50|C19orf50|KXDL|MST096|MSTP096	19p13.11	KxDL motif containing 1	Ubiquitous expression in testis (RPKM 13.1), placenta (RPKM 13.1) and 25 other tissues
KY	chr3	134603138	134651636	-	ENSG00000174611.11	protein_coding	MFM7	3q22.2	kyphoscoliosis peptidase	The protein encoded by this gene belongs to the transglutaminase-like superfamily. The protein is involved in the function, maturation and stabilization of the neuromuscular junction and may be required for normal muscle growth. Mutations in this gene are associated with myopathy, myofibrillar, 7. [provided by RefSeq, Apr 2017]
KYAT1	chr9	128832942	128882494	-	ENSG00000171097.13	protein_coding	CCBL1|GTK|KAT1|KATI	9q34.11	kynurenine aminotransferase 1	This gene encodes a cytosolic enzyme that is responsible for the metabolism of cysteine conjugates of certain halogenated alkenes and alkanes. This metabolism can form reactive metabolites leading to nephrotoxicity and neurotoxicity. Increased levels of this enzyme have been linked to schizophrenia. Multiple transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
KYAT3	chr1	88935773	88992953	-	ENSG00000137944.17	protein_coding	CCBL2|KAT3|KATIII	1p22.2	kynurenine aminotransferase 3	This gene encodes an aminotransferase that transaminates kynurenine to form kynurenic acid, which is a metabolite of tryptophan. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene. This gene shares 5 exon structure with the RNA binding motif protein, X-linked-like 1 locus on chromosome 1, but the coding sequences are non-overlapping. [provided by RefSeq, Mar 2017]
KYNU	chr2	142877498	143055832	+	ENSG00000115919.14	protein_coding	KYNUU|VCRL2	2q22.2	kynureninase	Kynureninase is a pyridoxal-5-phosphate (pyridoxal-P) dependent enzyme that catalyzes the cleavage of L-kynurenine and L-3-hydroxykynurenine into anthranilic and 3-hydroxyanthranilic acids, respectively. Kynureninase is involved in the biosynthesis of NAD cofactors from tryptophan through the kynurenine pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
L1TD1	chr1	62194831	62212328	+	ENSG00000240563.1	protein_coding	ECAT11	1p31.3	LINE1 type transposase domain containing 1	Biased expression in placenta (RPKM 6.2), testis (RPKM 4.7) and 4 other tissues
L2HGDH	chr14	50237563	50312548	-	ENSG00000087299.11	protein_coding	C14orf160|L2HGA	14q21.3	L-2-hydroxyglutarate dehydrogenase	This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe cognitive disability. [provided by RefSeq, Jul 2008]
L34079.3	chr19	43553445	43555494	+	ENSG00000269177.1	antisense	-	-	-	-
L34079.4	chr19	43574638	43575618	+	ENSG00000269583.1	antisense	-	-	-	-
L3HYPDH	chr14	59460363	59484430	-	ENSG00000126790.11	protein_coding	C14orf149	14q23.1	trans-L-3-hydroxyproline dehydratase	The protein encoded by this gene is a dehydratase that converts trans-3-hydroxy-L-proline to delta(1)-pyrroline-2-carboxylate. This enzyme may function to degrade dietary proteins that contain trans-3-hydroxy-L-proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site. [provided by RefSeq, Sep 2016]
L3MBTL1	chr20	43507680	43550950	+	ENSG00000185513.14	protein_coding	H-L(3)MBT|L3MBTL|ZC2HC3|dJ138B7.3	20q13.12	L3MBTL histone methyl-lysine binding protein 1	This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
L3MBTL2	chr22	41205205	41231271	+	ENSG00000100395.14	protein_coding	H-l(3)mbt-l|L3MBT	22q13.2	L3MBTL histone methyl-lysine binding protein 2	Ubiquitous expression in lymph node (RPKM 7.9), testis (RPKM 7.9) and 25 other tissues
L3MBTL3	chr6	130013699	130141451	+	ENSG00000198945.7	protein_coding	MBT-1|MBT1	6q23.1	L3MBTL histone methyl-lysine binding protein 3	This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize methylated lysine residues on histone protein tails, and are associated with the repression of gene expression. The encoded protein may regulate hematopoiesis. Homozygous deletion of this gene has been observed in human patients with medulloblastoma. [provided by RefSeq, Oct 2016]
LA16c-306A4.1	chr16	883780	885090	+	ENSG00000260022.1	antisense	-	-	-	-
LA16c-306E5.1	chr16	3496201	3496768	+	ENSG00000240311.1	processed_pseudogene	-	-	-	-
LA16c-306E5.3	chr16	3458071	3515564	+	ENSG00000263212.2	processed_transcript	-	-	-	-
LA16c-313D11.12	chr16	689001	692554	+	ENSG00000261659.2	processed_transcript	-	-	-	-
LA16c-313F4.1	chr16	1576716	1578371	-	ENSG00000280327.1	TEC	-	-	-	-
LA16c-329F2.2	chr16	1707252	1707973	+	ENSG00000275092.1	sense_intronic	-	-	-	-
LA16c-335H7.2	chr16	769119	769443	-	ENSG00000279136.1	TEC	-	-	-	-
LA16c-349E10.1	chr16	654611	656194	-	ENSG00000262528.2	antisense	-	-	-	-
LA16c-358B7.3	chr16	1317891	1322845	-	ENSG00000261505.1	antisense	-	-	-	-
LA16c-358B7.4	chr16	1305547	1309413	-	ENSG00000274751.1	antisense	-	-	-	-
LA16c-359F1.1	chr16	424243	424543	-	ENSG00000276984.1	lincRNA	-	-	-	-
LA16c-360A4.1	chr16	848525	849065	-	ENSG00000275438.1	lincRNA	-	-	-	-
LA16c-360H6.3	chr16	3307573	3308393	-	ENSG00000262899.1	antisense	-	-	-	-
LA16c-380A1.1	chr16	710746	711277	-	ENSG00000259840.1	lincRNA	-	-	-	-
LA16c-380A1.2	chr16	707650	709067	+	ENSG00000279255.1	TEC	-	-	-	-
LA16c-380F5.1	chr16	1530715	1533301	+	ENSG00000280062.1	TEC	-	-	-	-
LA16c-380F5.3	chr16	1553655	1554130	-	ENSG00000280231.1	TEC	-	-	-	-
LA16c-381G6.1	chr16	1111627	1113399	+	ENSG00000260532.1	lincRNA	-	-	-	-
LA16c-385E7.1	chr16	1512979	1514675	+	ENSG00000260646.1	lincRNA	-	-	-	-
LA16c-390E6.5	chr16	1445343	1446519	+	ENSG00000261641.2	antisense	-	-	-	-
LA16c-OS12.2	chr16	185748	186294	-	ENSG00000268836.1	lincRNA	-	-	-	-
LACC1	chr13	43879284	43893932	+	ENSG00000179630.10	protein_coding	C13orf31|FAMIN|JUVAR	13q14.11	laccase domain containing 1	This gene encodes an oxidoreductase that promotes fatty-acid oxidation, with concomitant inflammasome activation, mitochondrial and NADPH-oxidase-dependent reactive oxygen species production, and bactericidal activity of macrophages. The encoded protein forms a complex with fatty acid synthase on peroxisomes and is thought to be modulated by peroxisome proliferator-activated receptor signaling events. Naturally occurring mutations in this gene are associated with inflammatory bowel disease, Behcets disease, leprosy, ulcerative colitis, early-onset Crohns disease, and systemic juvenile idiopathic arthritis. [provided by RefSeq, Apr 2017]
LACTB	chr15	63121800	63142061	+	ENSG00000103642.11	protein_coding	G24|MRPL56	15q22.2	lactamase beta	This gene encodes a mitochondrially-localized protein that has sequence similarity to prokaryotic beta-lactamases. Many of the residues responsible for beta-lactamase activity are not conserved in this protein, suggesting it may have a different enzymatic function. Increased expression of the related mouse gene was found to be associated with obesity. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Dec 2013]
LACTB2	chr8	70635318	70669174	-	ENSG00000147592.8	protein_coding	CGI-83	8q13.3	lactamase beta 2	Broad expression in testis (RPKM 25.7), kidney (RPKM 23.4) and 24 other tissues
LACTBL1	chr1	22953043	22965338	-	ENSG00000215906.8	protein_coding	-	1p36.12	lactamase beta like 1	-
LAD1	chr1	201373244	201399915	-	ENSG00000159166.13	protein_coding	LadA	1q32.1	ladinin 1	The protein encoded by this gene may be an anchoring filament that is a component of basement membranes. It may contribute to the stability of the association of the epithelial layers with the underlying mesenchyme. [provided by RefSeq, Jul 2008]
LAG3	chr12	6772512	6778455	+	ENSG00000089692.8	protein_coding	CD223	12p13.31	lymphocyte activating 3	Lymphocyte-activation protein 3 belongs to Ig superfamily and contains 4 extracellular Ig-like domains. The LAG3 gene contains 8 exons.  The sequence data, exon/intron organization, and chromosomal localization all indicate a close relationship of LAG3 to CD4. [provided by RefSeq, Jul 2008]
LAIR1	chr19	54351384	54370558	-	ENSG00000167613.15	protein_coding	CD305|LAIR-1	19q13.42	leukocyte associated immunoglobulin like receptor 1	The protein encoded by this gene is an inhibitory receptor found on peripheral mononuclear cells, including natural killer cells, T cells, and B cells. Inhibitory receptors regulate the immune response to prevent lysis of cells recognized as self. The gene is a member of both the immunoglobulin superfamily and the leukocyte-associated inhibitory receptor family. The gene maps to a region of 19q13.4 called the leukocyte receptor cluster, which contains at least 29 genes encoding leukocyte-expressed receptors of the immunoglobulin superfamily. The encoded protein has been identified as an anchor for tyrosine phosphatase SHP-1, and may induce cell death in myeloid leukemias. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
LAMA2	chr6	128883141	129516569	+	ENSG00000196569.11	protein_coding	LAMM|MDC1A	6q22.33	laminin subunit alpha 2	Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
LAMA3	chr18	23689443	23955066	+	ENSG00000053747.15	protein_coding	BM600|E170|LAMNA|LOCS	18q11.2	laminin subunit alpha 3	The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants. [provided by RefSeq, Dec 2014]
LAMA4	chr6	112108760	112254939	-	ENSG00000112769.18	protein_coding	CMD1JJ|LAMA3|LAMA4*-1	6q21	laminin subunit alpha 4	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]
LAMA5	chr20	62307955	62367312	-	ENSG00000130702.15	protein_coding	-	20q13.33	laminin subunit alpha 5	Broad expression in skin (RPKM 18.3), placenta (RPKM 17.0) and 24 other tissues
LAMA5-AS1	chr20	62352995	62356480	+	ENSG00000228812.7	antisense	-	20q13.33	LAMA5 antisense RNA 1	-
LAMB1	chr7	107923799	108003255	-	ENSG00000091136.13	protein_coding	CLM|LIS5	7q31.1	laminin subunit beta 1	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 1. The beta 1 chain has 7 structurally distinct domains which it shares with other beta chain isomers. The C-terminal helical region containing domains I and II are separated by domain alpha, domains III and V contain several EGF-like repeats, and domains IV and VI have a globular conformation. Laminin, beta 1 is expressed in most tissues that produce basement membranes, and is one of the 3 chains constituting laminin 1, the first laminin isolated from Engelbreth-Holm-Swarm (EHS) tumor. A sequence in the beta 1 chain that is involved in cell attachment, chemotaxis, and binding to the laminin receptor was identified and shown to have the capacity to inhibit metastasis. [provided by RefSeq, Aug 2011]
LAMB2	chr3	49121114	49133118	-	ENSG00000172037.13	protein_coding	LAMS|NPHS5|PIERS	3p21.31	laminin subunit beta 2	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the beta chain isoform laminin, beta 2. The beta 2 chain contains the 7 structural domains typical of beta chains of laminin, including the short alpha region. However, unlike beta 1 chain, beta 2 has a more restricted tissue distribution. It is enriched in the basement membrane of muscles at the neuromuscular junctions, kidney glomerulus and vascular smooth muscle. Transgenic mice in which the beta 2 chain gene was inactivated by homologous recombination, showed defects in the maturation of neuromuscular junctions and impairment of glomerular filtration. Alternative splicing involving a non consensus 5 splice site (gc) in the 5 UTR of this gene has been reported. It was suggested that inefficient splicing of this first intron, which does not change the protein sequence, results in a greater abundance of the unspliced form of the transcript than the spliced form. The full-length nature of the spliced transcript is not known. [provided by RefSeq, Aug 2011]
LAMB4	chr7	108023548	108130356	-	ENSG00000091128.12	protein_coding	-	7q31.1	laminin subunit beta 4	-
LAMC1	chr1	183023460	183145592	+	ENSG00000135862.5	protein_coding	LAMB2	1q25.3	laminin subunit gamma 1	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 1. The gamma 1 chain, formerly thought to be a beta chain, contains structural domains similar to beta chains, however, lacks the short alpha region separating domains I and II. The structural organization of this gene also suggested that it had diverged considerably from the beta chain genes. Embryos of transgenic mice in which both alleles of the gamma 1 chain gene were inactivated by homologous recombination, lacked basement membranes, indicating that laminin, gamma 1 chain is necessary for laminin heterotrimer assembly. It has been inferred by analogy with the strikingly similar 3 UTR sequence in mouse laminin gamma 1 cDNA, that multiple polyadenylation sites are utilized in human to generate the 2 different sized mRNAs (5.5 and 7.5 kb) seen on Northern analysis. [provided by RefSeq, Aug 2011]
LAMC1-AS1	chr1	 183138402	183141270	-	ENSG00000224468	ncRNA	lnc-LAMC2-1:1	1q25.3	LAMC1 antisense RNA 1	-
LAMC2	chr1	183186238	183244900	+	ENSG00000058085.14	protein_coding	B2T|BM600|CSF|EBR2|EBR2A|LAMB2T|LAMNB2	1q25.3	laminin subunit gamma 2	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins, composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively), have a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 2. The gamma 2 chain, formerly thought to be a truncated version of beta chain (B2t), is highly homologous to the gamma 1 chain; however, it lacks domain VI, and domains V, IV and III are shorter. It is expressed in several fetal tissues but differently from gamma 1, and is specifically localized to epithelial cells in skin, lung and kidney. The gamma 2 chain together with alpha 3 and beta 3 chains constitute laminin 5 (earlier known as kalinin), which is an integral part of the anchoring filaments that connect epithelial cells to the underlying basement membrane. The epithelium-specific expression of the gamma 2 chain implied its role as an epithelium attachment molecule, and mutations in this gene have been associated with junctional epidermolysis bullosa, a skin disease characterized by blisters due to disruption of the epidermal-dermal junction. Two transcript variants resulting from alternative splicing of the 3 terminal exon, and encoding different isoforms of gamma 2 chain, have been described. The two variants are differentially expressed in embryonic tissues, however, the biological significance of the two forms is not known. Transcript variants utilizing alternative polyA_signal have also been noted in literature. [provided by RefSeq, Aug 2011]
LAMC3	chr9	131009082	131094473	+	ENSG00000050555.17	protein_coding	OCCM	9q34.12	laminin subunit gamma 3	Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the gamma chain isoform laminin, gamma 3. The gamma 3 chain is most similar to the gamma 1 chain, and contains all the 6 domains expected of the gamma chain. It is a component of laminin 12. The gamma 3 chain is broadly expressed in skin, heart, lung, and the reproductive tracts. In skin, it is seen within the basement membrane of the dermal-epidermal junction at points of nerve penetration. Gamma 3 is also a prominent element of the apical surface of ciliated epithelial cells of lung, oviduct, epididymis, ductus deferens, and seminiferous tubules. The distribution of gamma 3-containing laminins along ciliated epithelial surfaces suggests that the apical laminins are important in the morphogenesis and structural stability of the ciliated processes of these cells. [provided by RefSeq, Aug 2011]
LAMP1	chr13	113297241	113323672	+	ENSG00000185896.10	protein_coding	CD107a|LAMPA|LGP120	13q34	lysosomal associated membrane protein 1	The protein encoded by this gene is a member of a family of membrane glycoproteins.  This glycoprotein provides selectins with carbohydrate ligands.  It may also play a role in tumor cell metastasis. [provided by RefSeq, Jul 2008]
LAMP2	chrX	120427827	120469365	-	ENSG00000005893.15	protein_coding	CD107b|DND|LAMP-2|LAMPB|LGP-96|LGP110	Xq24	lysosomal associated membrane protein 2	The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
LAMP3	chr3	183122213	183163839	-	ENSG00000078081.7	protein_coding	CD208|DC LAMP|DC-LAMP|DCLAMP|LAMP|LAMP-3|TSC403	3q27.1	lysosomal associated membrane protein 3	Dendritic cells (DCs) are the most potent antigen-presenting cells. Immature DCs efficiently capture antigens and differentiate into interdigitating dendritic cells (IDCs) in lymphoid tissues that induce primary T-cell responses (summary by de Saint-Vis et al., 1998 [PubMed 9768752]).[supplied by OMIM, Dec 2010]
LAMP5	chr20	9514358	9530524	+	ENSG00000125869.9	protein_coding	BAD-LAMP|BADLAMP|C20orf103|LAMP-5|UNC-46	20p12.2	lysosomal associated membrane protein family member 5	Biased expression in brain (RPKM 17.1), ovary (RPKM 10.7) and 6 other tissues
LAMTOR2	chr1	156054752	156058510	+	ENSG00000116586.11	protein_coding	ENDAP|HSPC003|MAPBPIP|MAPKSP1AP|ROBLD3|Ragulator2|p14	1q22	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a component of the mitogen-activated protein kinase pathway. In humans, a mutation in this gene has been associated with a primary immunodeficiency syndrome, and suggests a role for this protein in endosomal biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
LAMTOR3	chr4	99878336	99894490	-	ENSG00000109270.12	protein_coding	MAP2K1IP1|MAPBP|MAPKSP1|MP1|PRO0633|Ragulator3	4q23	late endosomal/lysosomal adaptor, MAPK and MTOR activator 3	This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding protein-interacting protein, and binds specifically to MAP kinase kinase MAP2K1/MEK1, MAP kinase MAPK3/ERK1, and MAP kinase MAPK1/ERK2. Studies of the orthologous gene in mouse indicate that it regulates late endosomal traffic and cell proliferation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 13. [provided by RefSeq, Aug 2011]
LAMTOR4	chr7	100148907	100155944	+	ENSG00000188186.10	protein_coding	C7orf59	7q22.1	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4	Ubiquitous expression in skin (RPKM 36.0), spleen (RPKM 29.2) and 25 other tissues
LAMTOR5	chr1	110401249	110407942	-	ENSG00000134248.13	protein_coding	HBXIP|XIP	1p13.3	late endosomal/lysosomal adaptor, MAPK and MTOR activator 5	This gene encodes a protein that specifically complexes with the C-terminus of hepatitis B virus X protein (HBx). The function of this protein is to negatively regulate HBx activity and thus to alter the replication life cycle of the virus. [provided by RefSeq, Jul 2008]
LANCL1	chr2	210431249	210477652	-	ENSG00000115365.11	protein_coding	GPR69A|p40	2q34	LanC like 1	This gene encodes a loosely associated peripheral membrane protein related to the LanC family of bacterial membrane-associated proteins involved in the biosynthesis of antimicrobial peptides. This protein may play a role as a peptide-modifying enzyme component in eukaryotic cells. Previously considered a member of the G-protein-coupled receptor superfamily, this protein is now in the LanC family. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]
LANCL2	chr7	55365448	55433742	+	ENSG00000132434.9	protein_coding	GPR69B|TASP	7p11.2	LanC like 2	Ubiquitous expression in brain (RPKM 16.9), testis (RPKM 9.1) and 24 other tissues
LAP3	chr4	17577192	17607972	+	ENSG00000002549.12	protein_coding	HEL-S-106|LAP|LAPEP|PEPS	4p15.32	leucine aminopeptidase 3	Ubiquitous expression in appendix (RPKM 73.5), lymph node (RPKM 68.4) and 24 other tissues
LAP3P1	chr6	82924829	82925122	-	ENSG00000220091.2	processed_pseudogene	-	6q14.1	leucine aminopeptidase 3 pseudogene 1	-
LAPTM4A	chr2	20032650	20052028	-	ENSG00000068697.6	protein_coding	HUMORF13|LAPTM4|MBNT|Mtrp	2p24.1	lysosomal protein transmembrane 4 alpha	This gene encodes a protein that has four predicted transmembrane domains. The function of this gene has not yet been determined; however, studies in the mouse homolog suggest a role in the transport of small molecules across endosomal and lysosomal membranes. [provided by RefSeq, Jul 2008]
LAPTM4B	chr8	97775057	97853013	+	ENSG00000104341.16	protein_coding	LAPTM4beta|LC27	8q22.1	lysosomal protein transmembrane 4 beta	Ubiquitous expression in heart (RPKM 97.2), testis (RPKM 52.3) and 23 other tissues
LAPTM5	chr1	30732469	30757820	-	ENSG00000162511.7	protein_coding	CLAST6	1p35.2	lysosomal protein transmembrane 5	This gene encodes a transmembrane receptor that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis. [provided by RefSeq, Feb 2009]
LARGE1	chr22	33162226	33922841	-	ENSG00000133424.20	protein_coding	LARGE|MDC1D|MDDGA6|MDDGB6	22q12.3	LARGE xylosyl- and glucuronyltransferase 1	This gene encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2018]
LARGE2	chr11	45921621	45929096	+	ENSG00000165905.17	protein_coding	GYLTL1B|PP5656	11p11.2	LARGE xylosyl- and glucuronyltransferase 2	Biased expression in placenta (RPKM 26.3), skin (RPKM 8.2) and 10 other tissues
LARP1	chr5	154712902	154817607	+	ENSG00000155506.16	protein_coding	LARP|Lar1|Lhp1	5q33.2	La ribonucleoprotein 1, translational regulator	Ubiquitous expression in thyroid (RPKM 29.3), brain (RPKM 25.2) and 25 other tissues
LARP1B	chr4	128061268	128222931	+	ENSG00000138709.17	protein_coding	LARP2	4q28.2	La ribonucleoprotein 1B	This gene encodes a protein containing domains found in the La related protein of Drosophila melanogaster. La motif-containing proteins are thought to be RNA-binding proteins, where the La motif and adjacent amino acids fold into an RNA recognition motif. The La motif is also found in proteins unrelated to the La protein. Alternative splicing has been observed at this locus and multiple variants, encoding distinct isoforms, are described. Additional splice variation has been identified but the full-length nature of these transcripts has not been determined. [provided by RefSeq, Jun 2013]
LARP4	chr12	50392383	50480004	+	ENSG00000161813.21	protein_coding	PP13296	12q13.12	La ribonucleoprotein 4	Ubiquitous expression in liver (RPKM 13.3), adrenal (RPKM 12.0) and 25 other tissues
LARP4B	chr10	806914	931705	-	ENSG00000107929.14	protein_coding	KIAA0217|LARP5	10p15.3	La ribonucleoprotein 4B	This gene encodes a member of an evolutionarily conserved protein family implicated in RNA metabolism and translation. Members of this family are characterized by the presence of an La motif, which is often located adjacent to one or more RNA recognition motifs (RRM). Together, the two motifs constitute the functional region of the protein and enable its interaction with the RNA substrate. This protein family is divided into five sub-families: the genuine La proteins and four La-related protein (LARP) sub-families. The protein encoded by this gene belongs to LARP sub-family 4. It is a cytoplasmic protein that may play a stimulatory role in translation. [provided by RefSeq, Oct 2012]
LARP6	chr15	70829130	70854159	-	ENSG00000166173.10	protein_coding	ACHN	15q23	La ribonucleoprotein 6, translational regulator	Broad expression in brain (RPKM 22.8), thyroid (RPKM 15.1) and 17 other tissues
LARP7	chr4	112636964	112657592	+	ENSG00000174720.15	protein_coding	ALAZS|HDCMA18P|PIP7S|hLARP7	4q25	La ribonucleoprotein 7, transcriptional regulator	This gene encodes a protein which is found in the 7SK snRNP (small nuclear ribonucleoprotein). This snRNP complex inhibits a cyclin-dependent kinase, positive transcription elongation factor b, which is required for paused RNA polymerase II at a promoter to begin transcription elongation. A pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
LARS1	chr5	 146113034	146182650	-	ENSG00000133706	protein-coding	HSPC192|ILFS1|LARS|LEURS|LEUS|LFIS|LRS|PIG44|RNTLS|hr025Cl	5q32	leucyl-tRNA synthetase 1	This gene encodes a cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase complex and interacts with the arginine tRNA synthetase through its C-terminal domain. A mutation in this gene was found in affected individuals with infantile liver failure syndrome 1. Alternatively spliced transcript variants of this gene have been observed. [provided by RefSeq, Dec 2015]
LARS2	chr3	45388506	45549421	+	ENSG00000011376.9	protein_coding	HLASA|LEURS|PRLTS4|mtLeuRS	3p21.31	leucyl-tRNA synthetase 2, mitochondrial	This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008]
LASP1	chr17	38869859	38921770	+	ENSG00000002834.17	protein_coding	Lasp-1|MLN50	17q12	LIM and SH3 protein 1	This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homology region 3, and also a member of the nebulin family of actin-binding proteins. The encoded protein is a cAMP and cGMP dependent signaling protein and binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, and colorectal cancer. [provided by RefSeq, Oct 2012]
LAT	chr16	28984826	28990783	+	ENSG00000213658.11	protein_coding	IMD52|LAT1|pp36	16p11.2	linker for activation of T cells	The protein encoded by this gene is phosphorylated by ZAP-70/Syk protein tyrosine kinases following activation of the T-cell antigen receptor (TCR) signal transduction pathway. This transmembrane protein localizes to lipid rafts and acts as a docking site for SH2 domain-containing proteins. Upon phosphorylation, this protein recruits multiple adaptor proteins and downstream signaling molecules into multimolecular signaling complexes located near the site of TCR engagement. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
LAT2	chr7	74199652	74229834	+	ENSG00000086730.16	protein_coding	HSPC046|LAB|NTAL|WBSCR15|WBSCR5|WSCR5	7q11.23	linker for activation of T cells family member 2	This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. [provided by RefSeq, Jul 2008]
LATS1	chr6	149658153	149718256	-	ENSG00000131023.12	protein_coding	WARTS|wts	6q25.1	large tumor suppressor kinase 1	The protein encoded by this gene is a putative serine/threonine kinase that localizes to the mitotic apparatus and complexes with cell cycle controller CDC2 kinase in early mitosis. The protein is phosphorylated in a cell-cycle dependent manner, with late prophase phosphorylation remaining through metaphase. The N-terminal region of the protein binds CDC2 to form a complex showing reduced H1 histone kinase activity, indicating a role as a negative regulator of CDC2/cyclin A. In addition, the C-terminal kinase domain binds to its own N-terminal region, suggesting potential negative regulation through interference with complex formation via intramolecular binding. Biochemical and genetic data suggest a role as a tumor suppressor. This is supported by studies in knockout mice showing development of soft-tissue sarcomas, ovarian stromal cell tumors and a high sensitivity to carcinogenic treatments. [provided by RefSeq, Apr 2017]
LATS2	chr13	20973032	21061547	-	ENSG00000150457.8	protein_coding	KPM	13q12.11	large tumor suppressor kinase 2	This gene encodes a serine/threonine protein kinase belonging to the LATS tumor suppressor family. The protein localizes to centrosomes during interphase, and early and late metaphase. It interacts with the centrosomal proteins aurora-A and ajuba and is required for accumulation of gamma-tubulin and spindle formation at the onset of mitosis. It also interacts with a negative regulator of p53 and may function in a positive feedback loop with p53 that responds to cytoskeleton damage. Additionally, it can function as a co-repressor of androgen-responsive gene expression. [provided by RefSeq, Jul 2008]
LATS2-AS1	chr13	21005157	21018122	+	ENSG00000233851.1	antisense	-	13q12.11	LATS2 antisense RNA 1	-
LAX1	chr1	203765176	203776233	+	ENSG00000122188.12	protein_coding	LAX	1q32.1	lymphocyte transmembrane adaptor 1	Biased expression in lymph node (RPKM 6.4), appendix (RPKM 5.1) and 13 other tissues
LAYN	chr11	111540280	111561745	+	ENSG00000204381.11	protein_coding	-	11q23.1	layilin	-
LBH	chr2	30231531	30323730	+	ENSG00000213626.11	protein_coding	-	2p23.1	LBH regulator of WNT signaling pathway	-
LBHD1	chr11	62662817	62672255	-	ENSG00000162194.12	protein_coding	C11orf48	11q12.3	LBH domain containing 1	This gene shares three exons in common with another gene, chromosome 11 open reading frame 98 (GeneID:102288414), but the encoded protein uses a reading frame that is different from that of the chromosome 11 open reading frame 98 gene. [provided by RefSeq, Nov 2017]
LBP	chr20	38346356	38377023	+	ENSG00000129988.5	protein_coding	BPIFD2	20q11.23	lipopolysaccharide binding protein	The protein encoded by this gene is involved in the acute-phase immunologic response to gram-negative bacterial infections. Gram-negative bacteria contain a glycolipid, lipopolysaccharide (LPS), on their outer cell wall. Together with bactericidal permeability-increasing protein (BPI), the encoded protein binds LPS and interacts with the CD14 receptor, probably playing a role in regulating LPS-dependent monocyte responses. Studies in mice suggest that the encoded protein is necessary for the rapid acute-phase response to LPS but not for the clearance of LPS from circulation. This protein is part of a family of structurally and functionally related proteins, including BPI, plasma cholesteryl ester transfer protein (CETP), and phospholipid transfer protein (PLTP). [provided by RefSeq, Apr 2012]
LBR	chr1	225401502	225428925	-	ENSG00000143815.14	protein_coding	C14SR|DHCR14B|LMN2R|PHA|PHASK|TDRD18	1q42.12	lamin B receptor	The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
LBX1-AS1	chr10	101229594	101270148	+	ENSG00000227128.4	processed_transcript	MUSE	10q24.32	LBX1 antisense RNA 1	-
LBX2	chr2	74497517	74503316	-	ENSG00000179528.15	protein_coding	LP3727	2p13.1	ladybird homeobox 2	Biased expression in liver (RPKM 2.5), small intestine (RPKM 1.7) and 11 other tissues
LBX2-AS1	chr2	74502595	74504678	+	ENSG00000257702.3	antisense	-	2p13.1	LBX2 antisense RNA 1	-
LCA5	chr6	79484991	79537458	-	ENSG00000135338.13	protein_coding	C6orf152	6q14.1	lebercilin LCA5	This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [provided by RefSeq, Oct 2009]
LCA5L	chr21	39405844	39445805	-	ENSG00000157578.13	protein_coding	C21orf13	21q22.2	lebercilin LCA5 like	Restricted expression toward testis (RPKM 36.4)
LCAT	chr16	67939750	67944131	-	ENSG00000213398.7	protein_coding	-	16q22.1	lecithin-cholesterol acyltransferase	Broad expression in liver (RPKM 51.1), skin (RPKM 11.1) and 19 other tissues
LCE1A	chr1	152827473	152827894	+	ENSG00000186844.5	protein_coding	LEP1	1q21.3	late cornified envelope 1A	LCE1A belongs to the late cornified envelope (LCE) gene cluster within the epidermal differentiation complex (EDC) on chromosome 1. The LCE cluster contains multiple conserved genes that encode stratum corneum proteins, and these genes are expressed relatively late during fetal assembly of the skin cornified envelope (Jackson et al., 2005 [PubMed 15854049]). For further information on the LCE gene cluster, see GENE FAMILY below.[supplied by OMIM, Feb 2009]
LCE1C	chr1	152804835	152806628	-	ENSG00000197084.5	protein_coding	LEP3	1q21.3	late cornified envelope 1C	Restricted expression toward skin (RPKM 108.0)
LCE1D	chr1	152796751	152798181	+	ENSG00000172155.9	protein_coding	LEP4	1q21.3	late cornified envelope 1D	Restricted expression toward skin (RPKM 30.0)
LCE1E	chr1	152786214	152788426	+	ENSG00000186226.8	protein_coding	LEP5	1q21.3	late cornified envelope 1E	Restricted expression toward skin (RPKM 20.8)
LCE2A	chr1	152698364	152699442	+	ENSG00000187173.3	protein_coding	LEP9	1q21.3	late cornified envelope 2A	Restricted expression toward skin (RPKM 30.4)
LCE2B	chr1	152686123	152687401	+	ENSG00000159455.8	protein_coding	LEP10|SPRL1B|XP5	1q21.3	late cornified envelope 2B	This gene is one of the at least 20 genes expressed during epidermal differentiation and located on chromosomal band 1q21. This gene is involved in epidermal differentiation, and it is expressed at high levels in normal and psoriatic skin, but not in cultured keratinocytes or in any other tested cell types or tissues. [provided by RefSeq, Jul 2008]
LCE2C	chr1	152675295	152676574	+	ENSG00000187180.3	protein_coding	LEP11	1q21.3	late cornified envelope 2C	Restricted expression toward skin (RPKM 72.0)
LCE3A	chr1	152622834	152623103	-	ENSG00000185962.1	protein_coding	LEP13	1q21.3	late cornified envelope 3A	-
LCE3C	chr1	152600662	152601086	+	ENSG00000244057.4	protein_coding	LEP15|SPRL3A	1q21.3	late cornified envelope 3C	-
LCE3D	chr1	152579381	152580504	-	ENSG00000163202.4	protein_coding	LEP16|SPRL6A|SPRL6B	1q21.3	late cornified envelope 3D	Biased expression in skin (RPKM 6.3) and esophagus (RPKM 3.1)
LCE3E	chr1	152565654	152566772	-	ENSG00000185966.3	protein_coding	LEP17	1q21.3	late cornified envelope 3E	Biased expression in esophagus (RPKM 2.4) and skin (RPKM 2.3)
LCE4A	chr1	152708160	152709491	+	ENSG00000187170.4	protein_coding	LEP8|SPRL4A	1q21.3	late cornified envelope 4A	-
LCE5A	chr1	152510844	152512177	+	ENSG00000186207.4	protein_coding	LEP18|SPRL5A	1q21.3	late cornified envelope 5A	Restricted expression toward skin (RPKM 22.8)
LCK	chr1	32251239	32286165	+	ENSG00000182866.16	protein_coding	IMD22|LSK|YT16|p56lck|pp58lck	1p35.2	LCK proto-oncogene, Src family tyrosine kinase	This gene is a member of the Src family of protein tyrosine kinases (PTKs). The encoded protein is a key signaling molecule in the selection and maturation of developing T-cells. It contains N-terminal sites for myristylation and palmitylation, a PTK domain, and SH2 and SH3 domains which are involved in mediating protein-protein interactions with phosphotyrosine-containing and proline-rich motifs, respectively. The protein localizes to the plasma membrane and pericentrosomal vesicles, and binds to cell surface receptors, including CD4 and CD8, and other signaling molecules. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Aug 2016]
LCLAT1	chr2	30447226	30644225	+	ENSG00000172954.13	protein_coding	1AGPAT8|AGPAT8|ALCAT1|HSRG1849|LYCAT|UNQ1849	2p23.1	lysocardiolipin acyltransferase 1	Enables 1-acylglycerol-3-phosphate O-acyltransferase activity. Predicted to be involved in phosphatidylinositol acyl-chain remodeling. Located in cytosol and endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
LCMT2	chr15	43323649	43330605	-	ENSG00000168806.7	protein_coding	PPM2|TYW4	15q15.3	leucine carboxyl methyltransferase 2	The protein encoded by this intronless gene belongs to the highly variable methyltransferase superfamily. This gene is the inferred homolog of the Saccharomyces cerevisiae carboxymethyltransferase gene PPM2 that is essential for the synthesis of the hypermodified guanosine Wybutosine (yW). [provided by RefSeq, Jul 2008]
LCN10	chr9	136738167	136743356	-	ENSG00000187922.13	protein_coding	-	9q34.3	lipocalin 10	Broad expression in spleen (RPKM 4.2), endometrium (RPKM 3.9) and 19 other tissues
LCN12	chr9	136949551	136955497	+	ENSG00000184925.11	protein_coding	-	9q34.3	lipocalin 12	Biased expression in thyroid (RPKM 11.7), spleen (RPKM 1.8) and 4 other tissues
LCN15	chr9	136759634	136766255	-	ENSG00000177984.6	protein_coding	PRO6093|UNQ2541	9q34.3	lipocalin 15	Biased expression in duodenum (RPKM 4.8), colon (RPKM 2.3) and 2 other tissues
LCN1P1	chr9	133224905	133228591	-	ENSG00000119440.8	unprocessed_pseudogene	LCN1L1|bA430N14.2	9q34.2	lipocalin 1 pseudogene 1	Predicted to enable small molecule binding activity. Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
LCN2	chr9	128149071	128153455	+	ENSG00000148346.11	protein_coding	24p3|MSFI|NGAL|p25	9q34.11	lipocalin 2	This gene encodes a protein that belongs to the lipocalin family. Members of this family transport small hydrophobic molecules such as lipids, steroid hormones and retinoids. The protein encoded by this gene is a neutrophil gelatinase-associated lipocalin and plays a role in innate immunity by limiting bacterial growth as a result of sequestering iron-containing siderophores. The presence of this protein in blood and urine is an early biomarker of acute kidney injury. This protein is thought to be be involved in multiple cellular processes, including maintenance of skin homeostasis, and suppression of invasiveness and metastasis. Mice lacking this gene are more susceptible to bacterial infection than wild type mice. [provided by RefSeq, Sep 2015]
LCN8	chr9	136754386	136758543	-	ENSG00000204001.9	protein_coding	EP17|LCN5	9q34.3	lipocalin 8	Members of the lipocalin family, such as LCN8, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]
LCN9	chr9	135663322	135666422	+	ENSG00000148386.9	protein_coding	HEL129	9q34.3	lipocalin 9	Members of the lipocalin family, such as LCN9, have a common structure consisting of an 8-stranded antiparallel beta-barrel that forms a cup-shaped ligand-binding pocket or calyx. Lipocalins generally bind small hydrophobic ligands and transport them to specific cells (Suzuki et al., 2004 [PubMed 15363845]).[supplied by OMIM, Aug 2009]
LCNL1	chr9	136981904	136986410	+	ENSG00000214402.6	protein_coding	-	9q34.3	lipocalin like 1	-
LCOR	chr10	96832260	96995959	+	ENSG00000196233.12	protein_coding	C10orf12|MLR2	10q24.1	ligand dependent nuclear receptor corepressor	LCOR is a transcriptional corepressor widely expressed in fetal and adult tissues that is recruited to agonist-bound nuclear receptors through a single LxxLL motif, also referred to as a nuclear receptor (NR) box (Fernandes et al., 2003 [PubMed 12535528]).[supplied by OMIM, Mar 2008]
LCORL	chr4	17841199	18021876	-	ENSG00000178177.15	protein_coding	MLR1	4p15.31	ligand dependent nuclear receptor corepressor like	This gene encodes a transcription factor that appears to function in spermatogenesis. Polymorphisms in this gene are associated with measures of skeletal frame size and adult height. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
LCP1	chr13	46125920	46211871	-	ENSG00000136167.13	protein_coding	CP64|HEL-S-37|L-PLASTIN|LC64P|LPL|PLS2	13q14.13	lymphocyte cytosolic protein 1	Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). However, L-plastin has been found in many types of malignant human cells of non-hemopoietic origin suggesting that its expression is induced accompanying tumorigenesis in solid tissues. [provided by RefSeq, Jul 2008]
LCT	chr2	135787840	135837180	-	ENSG00000115850.9	protein_coding	LAC|LPH|LPH1	2q21.3	lactase	The protein encoded by this gene belongs to the glycosyl hydrolase 1 family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme is integral to the plasma membrane and has both phlorizin hydrolase activity and lactase activity. Mutations in this gene are associated with congenital lactase deficiency. Polymorphisms in this gene are associated with lactase persistence, in which intestinal lactase activity persists at childhood levels into adulthood. [provided by RefSeq, Jan 2016]
LCTL	chr15	66547179	66565979	-	ENSG00000188501.11	protein_coding	KLG|KLPH	15q22.31	lactase like	This gene encodes a member of family 1 glycosidases. Glycosidases are enzymes that hydrolyze glycosidic bonds and are classified into families based on primary amino acid sequence. Most members of family 1 have two conserved glutamic acid residues, which are required for enzymatic activity. The mouse ortholog of this protein has been characterized and has a domain structure of an N-terminal signal peptide, glycosidase domain, transmembrane domain, and a short cytoplasmic tail. It lacks one of the conserved glutamic acid residues important for catalysis, and its function remains to be determined (PMID: 12084582). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
LDAF1	chr16	 21158674	21180616	+	ENSG00000011638	protein-coding	TMEM159	16p12.3	lipid droplet assembly factor 1	-
LDAH	chr2	20684014	20823130	-	ENSG00000118961.14	protein_coding	C2orf43|hLDAH	2p24.1	lipid droplet associated hydrolase	Ubiquitous expression in adrenal (RPKM 4.0), urinary bladder (RPKM 3.6) and 25 other tissues
LDB1	chr10	102107560	102120453	-	ENSG00000198728.10	protein_coding	CLIM-2|CLIM2|LDB-1|NLI	10q24.32	LIM domain binding 1	Ubiquitous expression in skin (RPKM 42.1), ovary (RPKM 38.8) and 25 other tissues
LDB3	chr10	86668449	86736068	+	ENSG00000122367.19	protein_coding	CMD1C|CMH24|CMPD3|CYPHER|LDB3Z1|LDB3Z4|LVNC3|MFM4|ORACLE|PDLIM6|ZASP	10q23.2	LIM domain binding 3	This gene encodes a PDZ domain-containing protein. PDZ motifs are modular protein-protein interaction domains consisting of 80-120 amino acid residues. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins involved in targeting and clustering of membrane proteins. The protein encoded by this gene interacts with alpha-actinin-2 through its N-terminal PDZ domain and with protein kinase C via its C-terminal LIM domains. The LIM domain is a cysteine-rich motif defined by 50-60 amino acids containing two zinc-binding modules. This protein also interacts with all three members of the myozenin family. Mutations in this gene have been associated with myofibrillar myopathy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been identified; all isoforms have N-terminal PDZ domains while only longer isoforms (1, 2 and 5) have C-terminal LIM domains. [provided by RefSeq, Jan 2010]
LDHA	chr11	18394388	18408425	+	ENSG00000134333.13	protein_coding	GSD11|HEL-S-133P|LDHM|PIG19	11p15.1	lactate dehydrogenase A	The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2008]
LDHAL6A	chr11	18455824	18479600	+	ENSG00000166800.9	protein_coding	LDH6A	11p15.1	lactate dehydrogenase A like 6A	Biased expression in testis (RPKM 3.4) and thyroid (RPKM 0.2)
LDHAL6B	chr15	59206823	59208515	+	ENSG00000171989.5	protein_coding	LDH6B|LDHAL6|LDHL	15q22.2	lactate dehydrogenase A like 6B	-
LDHAL6CP	chr12	63003553	63006902	+	ENSG00000250517.2	transcribed_processed_pseudogene	LDH6C	12q14.2	lactate dehydrogenase A like 6C, pseudogene	-
LDHAP2	chr1	235738005	235738989	+	ENSG00000235674.2	processed_pseudogene	LDHAL2	1q42.3	lactate dehydrogenase A pseudogene 2	-
LDHAP5	chr10	118932674	118933295	-	ENSG00000213574.2	processed_pseudogene	LDHAL5	10q26.11	lactate dehydrogenase A pseudogene 5	-
LDHB	chr12	21635342	21757857	-	ENSG00000111716.12	protein_coding	HEL-S-281|LDH-B|LDH-H|LDHBD|TRG-5	12p12.1	lactate dehydrogenase B	This gene encodes the B subunit of lactate dehydrogenase enzyme, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+ in a post-glycolysis process. Alternatively spliced transcript variants have been found for this gene. Recent studies have shown that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Mutations in this gene are associated with lactate dehydrogenase B deficiency. Pseudogenes have been identified on chromosomes X, 5 and 13. [provided by RefSeq, Feb 2016]
LDHBP1	chr13	113276616	113277734	+	ENSG00000232662.2	processed_pseudogene	LDHBL1	13q34	lactate dehydrogenase B pseudogene 1	-
LDHD	chr16	75111860	75116771	-	ENSG00000166816.13	protein_coding	DLACD|DLD	16q23.1	lactate dehydrogenase D	The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
LDLR	chr19	11089362	11133816	+	ENSG00000130164.13	protein_coding	FH|FHC|FHCL1|LDLCQ2	19p13.2	low density lipoprotein receptor	The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]
LDLRAD2	chr1	21812265	21825221	+	ENSG00000187942.11	protein_coding	-	1p36.12	low density lipoprotein receptor class A domain containing 2	-
LDLRAD4	chr18	13217498	13652755	+	ENSG00000168675.18	protein_coding	C18orf1	18p11.21	low density lipoprotein receptor class A domain containing 4	Ubiquitous expression in brain (RPKM 2.9), prostate (RPKM 1.4) and 24 other tissues
LDLRAP1	chr1	25543580	25568886	+	ENSG00000157978.11	protein_coding	ARH|ARH1|ARH2|FHCB1|FHCB2|FHCL4	1p36.11	low density lipoprotein receptor adaptor protein 1	The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]
LEAP2	chr5	132872322	132875046	+	ENSG00000164406.7	protein_coding	LEAP-2	5q31.1	liver enriched antimicrobial peptide 2	This gene encodes a cysteine-rich cationic antimicrobial peptide that is expressed predominantly in the liver. The mature peptide has activity against gram-positive bacteria and yeasts. [provided by RefSeq, Sep 2014]
LEF1	chr4	108047545	108168956	-	ENSG00000138795.9	protein_coding	LEF-1|TCF10|TCF1ALPHA|TCF7L3	4q25	lymphoid enhancer binding factor 1	This gene encodes a transcription factor belonging to a family of proteins that share homology with the high mobility group protein-1. The protein encoded by this gene can bind to a functionally important site in the T-cell receptor-alpha enhancer, thereby conferring maximal enhancer activity. This transcription factor is involved in the Wnt signaling pathway, and it may function in hair cell differentiation and follicle morphogenesis. Mutations in this gene have been found in somatic sebaceous tumors. This gene has also been linked to other cancers, including androgen-independent prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
LEFTY1	chr1	225886282	225911382	-	ENSG00000243709.1	protein_coding	LEFTB|LEFTYB	1q42.12	left-right determination factor 1	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. This gene is closely linked to both a related family member and a related pseudogene. [provided by RefSeq, Aug 2016]
LEFTY2	chr1	225936598	225941489	-	ENSG00000143768.12	protein_coding	EBAF|LEFTA|LEFTYA|TGFB4	1q42.12	left-right determination factor 2	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which plays a role in left-right asymmetry determination of organ systems during development. The protein may also play a role in endometrial bleeding. Mutations in this gene have been associated with left-right axis malformations, particularly in the heart and lungs. Some types of infertility have been associated with dysregulated expression of this gene in the endometrium. This gene is closely linked to both a related family member and a related pseudogene. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
LEKR1	chr3	156825481	157046129	+	ENSG00000197980.12	protein_coding	-	3q25.31	leucine, glutamate and lysine rich 1	-
LELP1	chr1	153203443	153205120	+	ENSG00000203784.2	protein_coding	-	1q21.3	late cornified envelope like proline rich 1	-
LEMD2	chr6	33771202	33789136	-	ENSG00000161904.11	protein_coding	CTRCT42|LEM2|MARUPS|NET25|dJ482C21.1	6p21.31	LEM domain nuclear envelope protein 2	This gene encodes a LEM domain-containing transmembrane protein of the inner nuclear membrane. The protein is involved in nuclear structure organization and plays a role in cell signaling and differentiation. Mutations in this gene result in Cataract 46, juvenile-onset. Multiple transcript variants have been found for this gene. [provided by RefSeq, Feb 2017]
LEMD3	chr12	65169571	65248327	+	ENSG00000174106.2	protein_coding	MAN1	12q14.3	LEM domain containing 3	This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]
LENEP	chr1	154993586	154994315	+	ENSG00000163352.5	protein_coding	LEP503	1q21.3	lens epithelial protein	The ocular lens is a tissue of epithelial origin and devoid of blood vessels and nerves. Cells of the lens epithelium are responsible for the growth and maintenance of the lens through mitosis, protein synthesis, and active transport of ions and metabolites across the lens capsule. Lens epithelial protein is expressed exclusively in lens epithelial cells and may play a role in cell differentiation. [provided by RefSeq, Jul 2008]
LEO1	chr15	51938025	51971806	-	ENSG00000166477.12	protein_coding	RDL	15q21.2	LEO1 homolog, Paf1/RNA polymerase II complex component	LEO1, parafibromin (CDC73; MIM 607393), CTR9 (MIM 609366), and PAF1 (MIM 610506) form the PAF protein complex that associates with the RNA polymerase II subunit POLR2A (MIM 180660) and with a histone methyltransferase complex (Rozenblatt-Rosen et al., 2005 [PubMed 15632063]).[supplied by OMIM, Mar 2008]
LEP	chr7	128241284	128257628	+	ENSG00000174697.4	protein_coding	LEPD|OB|OBS	7q32.1	leptin	This gene encodes a protein that is secreted by white adipocytes into the circulation and plays a major role in the regulation of energy homeostasis. Circulating leptin binds to the leptin receptor in the brain, which activates downstream signaling pathways that inhibit feeding and promote energy expenditure. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis, reproduction, bone formation and wound healing. Mutations in this gene and its regulatory regions cause severe obesity and morbid obesity with hypogonadism in human patients. A mutation in this gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Aug 2017]
LEPR	chr1	65420652	65641559	+	ENSG00000116678.19	protein_coding	CD295|LEP-R|LEPRD|OB-R|OBR	1p31.3	leptin receptor	The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]
LEPROT	chr1	65420587	65436007	+	ENSG00000213625.8	protein_coding	LEPR|OB-RGRP|OBRGRP|VPS55	1p31.3	leptin receptor overlapping transcript	LEPROT is associated with the Golgi complex and endosomes and has a role in cell surface expression of growth hormone receptor (GHR; MIM 600946) and leptin receptor (OBR, or LEPR; MIM 601007), thereby altering receptor-mediated cell signaling (Couturier et al., 2007 [PubMed 18042720]; Touvier et al., 2009 [PubMed 19907080]).[supplied by OMIM, Jul 2010]
LEPROTL1	chr8	30095398	30177208	+	ENSG00000104660.17	protein_coding	HSPC112|Vps55|my047	8p12	leptin receptor overlapping transcript like 1	Ubiquitous expression in placenta (RPKM 29.1), lymph node (RPKM 17.8) and 24 other tissues
LETM1	chr4	1811479	1856247	-	ENSG00000168924.14	protein_coding	SLC55A1	4p16.3	leucine zipper and EF-hand containing transmembrane protein 1	This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009]
LETM2	chr8	38386207	38409527	+	ENSG00000165046.12	protein_coding	SLC55A2	8p11.23	leucine zipper and EF-hand containing transmembrane protein 2	Broad expression in testis (RPKM 3.0), brain (RPKM 0.6) and 14 other tissues
LETMD1	chr12	51047962	51060424	+	ENSG00000050426.15	protein_coding	1110019O13Rik|HCCR|HCCR-1|HCCR-2|HCCR1|HCCR2|HCRR-2|SLC55A3	12q13.12	LETM1 domain containing 1	This gene encodes a mitochondrial outer membrane protein. It has a potential role in tumorigenesis, which may result from negative regulation of the p53 tumor suppressor gene. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Aug 2011]
LETR1	chr15	 95279288	95327100	-	ENSG00000248441	ncRNA	LINC01197	15q26.2	lymphatic endothelial transcriptional regulator lncRNA 1	-
LEXM	chr1	54806063	54842252	+	ENSG00000162398.11	protein_coding	C1orf177|LEM	1p32.3	lymphocyte expansion molecule	Biased expression in esophagus (RPKM 2.6), testis (RPKM 1.5) and 3 other tissues
LFNG	chr7	2512529	2529177	+	ENSG00000106003.12	protein_coding	SCDO3	7p22.3	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the MFNG (GeneID: 4242) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. [provided by RefSeq, May 2018]
LGALS1	chr22	37675608	37679806	+	ENSG00000100097.11	protein_coding	GAL1|GBP	22q13.1	galectin 1	The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. This gene product may act as an autocrine negative growth factor that regulates cell proliferation. [provided by RefSeq, Jul 2008]
LGALS12	chr11	63506084	63516774	+	ENSG00000133317.14	protein_coding	GAL12|GRIP1	11q12.3	galectin 12	This gene encodes a member of the galectin superfamily, a group of beta-galactoside-binding proteins with conserved carbohydrate recognition domains. The related mouse protein is a primary regulator of the early stages of adipose tissue development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010]
LGALS16	chr19	39655894	39660647	+	ENSG00000249861.3	protein_coding	-	19q13.2	galectin 16	-
LGALS2	chr22	37570246	37582616	-	ENSG00000100079.6	protein_coding	HL14	22q13.1	galectin 2	The protein encoded by this gene is a soluble beta-galactoside binding lectin. The encoded protein is found as a homodimer and can bind to lymphotoxin-alpha. A single nucleotide polymorphism in an intron of this gene can alter the transcriptional level of the protein, with a resultant increased risk of myocardial infarction. [provided by RefSeq, Jul 2008]
LGALS3	chr14	55124110	55145413	+	ENSG00000131981.15	protein_coding	CBP35|GAL3|GALBP|GALIG|L31|LGALS2|MAC2	14q22.3	galectin 3	This gene encodes a member of the galectin family of carbohydrate binding proteins. Members of this protein family have an affinity for beta-galactosides. The encoded protein is characterized by an N-terminal proline-rich tandem repeat domain and a single C-terminal carbohydrate recognition domain. This protein can self-associate through the N-terminal domain allowing it to bind to multivalent saccharide ligands. This protein localizes to the extracellular matrix, the cytoplasm and the nucleus. This protein plays a role in numerous cellular functions including apoptosis, innate immunity, cell adhesion and T-cell regulation. The protein exhibits antimicrobial activity against bacteria and fungi. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2014]
LGALS3BP	chr17	78971238	78980109	-	ENSG00000108679.12	protein_coding	90K|BTBD17B|CyCAP|M2BP|MAC-2-BP|TANGO10B|gp90	17q25.3	galectin 3 binding protein	The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. LGALS3BP has been found elevated in the serum of patients with cancer and in those infected by the human immunodeficiency virus (HIV). It appears to be implicated in immune response associated with natural killer (NK) and lymphokine-activated killer (LAK) cell cytotoxicity. Using fluorescence in situ hybridization the full length 90K cDNA has been localized to chromosome 17q25. The native protein binds specifically to a human macrophage-associated lectin known as Mac-2 and also binds galectin 1. [provided by RefSeq, Jul 2008]
LGALS4	chr19	38801671	38813364	-	ENSG00000171747.8	protein_coding	GAL4|L36LBP	19q13.2	galectin 4	The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. The expression of this gene is restricted to small intestine, colon, and rectum, and it is underexpressed in colorectal cancer. [provided by RefSeq, Jul 2008]
LGALS7	chr19	38770971	38773492	-	ENSG00000205076.4	protein_coding	GAL7|LGALS7A	19q13.2	galectin 7	The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. Differential and in situ hybridization studies indicate that this lectin is specifically expressed in keratinocytes and found mainly in stratified squamous epithelium. A duplicate copy of this gene (GeneID:653499) is found adjacent to, but on the opposite strand on chromosome 19. [provided by RefSeq, Jul 2008]
LGALS7B	chr19	38789211	38791749	+	ENSG00000178934.4	protein_coding	GAL7|Gal-7|HKL-14|LGALS7|PI7	19q13.2	galectin 7B	The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. Differential and in situ hybridization studies indicate that this lectin is specifically expressed in keratinocytes and found mainly in stratified squamous epithelium. A duplicate copy of this gene (GeneID:3963) is found adjacent to, but on the opposite strand on chromosome 19. [provided by RefSeq, Jul 2008]
LGALS8	chr1	236518000	236552981	+	ENSG00000116977.18	protein_coding	Gal-8|PCTA-1|PCTA1|Po66-CBP	1q43	galectin 8	This gene encodes a member of the galectin family. Galectins are beta-galactoside-binding animal lectins with conserved carbohydrate recognition domains. The galectins have been implicated in many essential functions including development, differentiation, cell-cell adhesion, cell-matrix interaction, growth regulation, apoptosis, and RNA splicing. This gene is widely expressed in tumoral tissues and seems to be involved in integrin-like cell interactions. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
LGALS9B	chr17	20449395	20467539	-	ENSG00000170298.15	protein_coding	-	17p11.2	galectin 9B	Biased expression in stomach (RPKM 25.2), gall bladder (RPKM 10.0) and 4 other tissues
LGALS9C	chr17	18476737	18494945	+	ENSG00000171916.16	protein_coding	Gal-9B|LGALS9B	17p11.2	galectin 9C	This gene was initially thought to represent a pseudogene of galectin 9; however, this transcript has good exon-intron structure and encodes a predicted protein of the same size as and highly similar to galectin 9. This gene is one of two similar loci on chromosome 17p similar to galectin 9 and now thought to be protein-encoding. This gene is the more telomeric gene. [provided by RefSeq, Jul 2008]
LGI1	chr10	93757809	93806272	+	ENSG00000108231.12	protein_coding	ADLTE|ADPAEF|ADPEAF|EPITEMPIN|EPT|ETL1|IB1099	10q23.33	leucine rich glioma inactivated 1	This gene encodes a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with members of the SLIT protein family. The encoded protein may regulate the activity of voltage-gated potassium channels and may be involved in neuronal growth regulation and cell survival. This gene is rearranged as a result of translocations in glioblastoma cell lines, and it is frequently down-regulated or rearranged in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
LGI2	chr4	24998847	25030879	-	ENSG00000153012.11	protein_coding	LGIL2	4p15.2	leucine rich repeat LGI family member 2	Broad expression in gall bladder (RPKM 3.7), appendix (RPKM 3.2) and 20 other tissues
LGMN	chr14	92703807	92748702	-	ENSG00000100600.14	protein_coding	AEP|LGMN1|PRSC1	14q32.12	legumain	This gene encodes a cysteine protease that has a strict specificity for hydrolysis of asparaginyl bonds. This enzyme may be involved in the processing of bacterial peptides and endogenous proteins for MHC class II presentation in the lysosomal/endosomal systems. Enzyme activation is triggered by acidic pH and appears to be autocatalytic. Protein expression occurs after monocytes differentiate into dendritic cells. A fully mature, active enzyme is produced following lipopolysaccharide expression in mature dendritic cells. Overexpression of this gene may be associated with the majority of solid tumor types. This gene has a pseudogene on chromosome 13. Several alternatively spliced transcript variants have been described, but the biological validity of only two has been determined. These two variants encode the same isoform. [provided by RefSeq, Jul 2008]
LGR4	chr11	27365961	27472775	-	ENSG00000205213.13	protein_coding	BNMD17|GPR48	11p14.1	leucine rich repeat containing G protein-coupled receptor 4	The protein encoded by this gene is a G-protein coupled receptor that binds R-spondins and activates the Wnt signaling pathway. This Wnt signaling pathway activation is necessary for proper development of many organs of the body. [provided by RefSeq, Oct 2016]
LGR5	chr12	71439770	71586310	+	ENSG00000139292.12	protein_coding	FEX|GPR49|GPR67|GRP49|HG38	12q21.1	leucine rich repeat containing G protein-coupled receptor 5	The protein encoded by this gene is a leucine-rich repeat-containing receptor (LGR) and member of the G protein-coupled, 7-transmembrane receptor (GPCR) superfamily. The encoded protein is a receptor for R-spondins and is involved in the canonical Wnt signaling pathway. This protein plays a role in the formation and maintenance of adult intestinal stem cells during postembryonic development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
LGR6	chr1	202193901	202319781	+	ENSG00000133067.17	protein_coding	GPCR|VTS20631	1q32.1	leucine rich repeat containing G protein-coupled receptor 6	This gene encodes a member of the leucine-rich repeat-containing subgroup of the G protein-coupled 7-transmembrane protein superfamily. The encoded protein is a glycoprotein hormone receptor with a large N-terminal extracellular domain that contains leucine-rich repeats important for the formation of a horseshoe-shaped interaction motif for ligand binding. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
LGSN	chr6	63275951	63319977	-	ENSG00000146166.16	protein_coding	GLULD1|LGS	6q12	lengsin, lens protein with glutamine synthetase domain	This gene encodes a protein with similarity to the GS I members of the glutamine synthetase superfamily. The encoded protein is referred to as a pseudo-glutamine synthetase because it has no glutamine synthesis activity and may function as a chaperone protein. This protein is localized to the lens and may be associated with cataract disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
LHCGR	chr2	48686775	48755730	-	ENSG00000138039.14	protein_coding	HHG|LCGR|LGR2|LH/CG-R|LH/CGR|LHR|LHRHR|LSH-R|ULG5	2p16.3	luteinizing hormone/choriogonadotropin receptor	This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008]
LHFPL2	chr5	78485215	78770021	-	ENSG00000145685.13	protein_coding	-	5q14.1	LHFPL tetraspan subfamily member 2	Ubiquitous expression in gall bladder (RPKM 15.4), urinary bladder (RPKM 12.9) and 25 other tissues
LHFPL3	chr7	104328656	104907232	+	ENSG00000187416.11	protein_coding	LHFPL4	7q22.2-q22.3	LHFPL tetraspan subfamily member 3	This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in one LHFP-like gene result in deafness in humans and mice, and a second LHFP-like gene is fused to a high-mobility group gene in a translocation-associated lipoma. A partial gene fragment named LHFPL4 corresponds to a portion of the first exon of this gene. [provided by RefSeq, Jul 2008]
LHFPL3-AS1	chr7	104738597	104804107	-	ENSG00000226869.6	processed_transcript	-	7q22.2	LHFPL3 antisense RNA 1	-
LHFPL3-AS2	chr7	104894628	104926645	-	ENSG00000225329.3	processed_transcript	-	7q22.2-q22.3	LHFPL3 antisense RNA 2	-
LHFPL5	chr6	35805293	35833874	+	ENSG00000197753.8	protein_coding	DFNB67|TMHS|dJ510O8.8	6p21.31	LHFPL tetraspan subfamily member 5	This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. Mutations in this gene result in deafness in humans, and a mutation in a similar gene in mice results in deafness and vestibular dysfunction with severe degeneration of the organ of Corti. It is proposed to function in hair bundle morphogenesis. [provided by RefSeq, Jul 2008]
LHFPL6	chr13	 39342892	39603193	-	ENSG00000183722	protein-coding	LHFP	13q13.3-q14.11	LHFPL tetraspan subfamily member 6	This gene is a member of the lipoma HMGIC fusion partner (LHFP) gene family, which is a subset of the superfamily of tetraspan transmembrane protein encoding genes. This gene is fused to a high-mobility group gene in a translocation-associated lipoma. Mutations in another LHFP-like gene result in deafness in humans and mice. Alternatively spliced transcript variants have been found; however, their full-length nature is not known. [provided by RefSeq, Jul 2008]
LHPP	chr10	124461834	124617888	+	ENSG00000107902.13	protein_coding	HDHD2B	10q26.13	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	Ubiquitous expression in brain (RPKM 7.5), kidney (RPKM 4.5) and 25 other tissues
LHX3	chr9	136196250	136205109	-	ENSG00000107187.15	protein_coding	CPHD3|LIM3|M2-LHX3	9q34.3	LIM homeobox 3	This gene encodes a member of a large family of proteins which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Mutations in this gene cause combined pituitary hormone deficiency 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
LHX4	chr1	180230286	180278982	+	ENSG00000121454.5	protein_coding	CPHD4	1q25.2	LIM homeobox 4	This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor involved in the control of differentiation and development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4. [provided by RefSeq, Dec 2010]
LHX9	chr1	197911902	197935478	+	ENSG00000143355.15	protein_coding	-	1q31.3	LIM homeobox 9	Biased expression in ovary (RPKM 2.6), testis (RPKM 0.9) and 1 other tissue
LIAS	chr4	39458587	39485109	+	ENSG00000121897.14	protein_coding	HGCLAS|HUSSY-01|LAS|LIP1|LS|PDHLD	4p14	lipoic acid synthetase	The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. Localized in the mitochondrion, this iron-sulfur enzyme catalyzes the final step in the de novo pathway for the biosynthesis of lipoic acid, a potent antioxidant. The deficient expression of this enzyme has been linked to conditions such as diabetes, atherosclerosis and neonatal-onset epilepsy. Alternative splicing occurs at this locus, and several transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Aug 2020]
LIF	chr22	30240447	30246851	-	ENSG00000128342.4	protein_coding	CDF|DIA|HILDA|MLPLI	22q12.2	LIF interleukin 6 family cytokine	The protein encoded by this gene is a pleiotropic cytokine with roles in several different systems. It is involved in the induction of hematopoietic differentiation in normal and myeloid leukemia cells, induction of neuronal cell differentiation, regulator of mesenchymal to epithelial conversion during kidney development, and may also have a role in immune tolerance at the maternal-fetal interface. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
LIG1	chr19	48115445	48170603	-	ENSG00000105486.13	protein_coding	-	19q13.33	DNA ligase 1	Broad expression in bone marrow (RPKM 13.9), lymph node (RPKM 9.7) and 24 other tissues
LIG3	chr17	34980494	35009743	+	ENSG00000005156.11	protein_coding	LIG2|LIG3alpha	17q12	DNA ligase 3	This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
LIG4	chr13	108207439	108218368	-	ENSG00000174405.13	protein_coding	LIG4S	13q33.3	DNA ligase 4	The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
LILRA2	chr19	54572920	54590287	+	ENSG00000239998.5	protein_coding	CD85H|ILT1|LIR-7|LIR7	19q13.42	leukocyte immunoglobulin like receptor A2	This gene encodes a member of a family of immunoreceptors that are expressed predominantly on monocytes and B cells, and at lower levels on dendritic cells and natural killer cells. The encoded protein is an activating receptor that inhibits dendritic cell differentiation and antigen presentation and suppresses innate immune response. Alternatively spliced transcript variants encoding different isoforms have been found. This gene is located in a cluster of related genes on chromosome 19 and there is a pseudogene for this gene on chromosome 3. [provided by RefSeq, Mar 2014]
LILRA3	chr19	 270735	275150	-	-	protein-coding	CD85E|HM31|HM43|ILT-6|ILT6|LIR-4|LIR4	19q13.4	leukocyte immunoglobulin like receptor A3	This gene encodes a member of a family of immunoreceptors that are expressed predominantly in monocytes and B cells, and at lower levels in dendritic cells and natural killer cells. The encoded protein lacks the transmembrane region found in other members of this family. It acts as a soluble receptor for class I major histocompatibility complex (MHC) antigens. Alternatively spliced transcript variants encoding different isoforms have been found. This gene is located in a cluster of related genes on chromosome 19 and is polymorphic in human populations, with many individuals containing a deletion of this genomic region. [provided by RefSeq, Mar 2014]
LILRA4	chr19	54333185	54339150	-	ENSG00000239961.2	protein_coding	CD85g|ILT7	19q13.42	leukocyte immunoglobulin like receptor A4	This gene encodes an immunoglobulin-like cell surface protein that is expressed predominantly on plasmacytoid dendritic cells (PDCs) and modulates the function of these cells in the immune response. Expression of this gene is downregulated by interleukin 3 (IL3). This gene is one of a cluster of highly related genes located at chromosomal region 19q13.4. [provided by RefSeq, Jan 2015]
LILRA5	chr19	54307070	54313139	-	ENSG00000187116.13	protein_coding	CD85|CD85F|ILT-11|ILT11|LILRB7|LIR-9|LIR9	19q13.42	leukocyte immunoglobulin like receptor A5	The protein encoded by this gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family. LIR family members are known to have activating and inibitory functions in leukocytes. Crosslink of this receptor protein on the surface of monocytes has been shown to induce calcium flux and secretion of several proinflammatory cytokines, which suggests the roles of this protein in triggering innate immune responses. This gene is one of the leukocyte receptor genes that form a gene cluster on the chromosomal region 19q13.4. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
LILRA6	chr19	54236592	54242791	-	ENSG00000244482.10	protein_coding	CD85b|ILT-8|ILT5|ILT8|LILRB3|LILRB6	19q13.42	leukocyte immunoglobulin like receptor A6	Biased expression in appendix (RPKM 13.1), spleen (RPKM 5.9) and 7 other tissues
LILRB1	chr19	54617158	54637528	+	ENSG00000104972.15	protein_coding	CD85J|ILT-2|ILT2|LIR-1|LIR1|MIR-7|MIR7|PIR-B|PIRB	19q13.42	leukocyte immunoglobulin like receptor B1	This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
LILRB2	chr19	54273821	54281184	-	ENSG00000131042.14	protein_coding	CD85D|ILT-4|ILT4|LIR-2|LIR2|MIR-10|MIR10	19q13.42	leukocyte immunoglobulin like receptor B2	This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
LILRB3	chr19	54216278	54223506	-	ENSG00000204577.11	protein_coding	CD85A|HL9|ILT-5|ILT5|LILRA6|LIR-3|LIR3|PIR-B|PIRB	19q13.42	leukocyte immunoglobulin like receptor B3	This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
LILRB4	chr19	54643889	54670359	+	ENSG00000186818.12	protein_coding	CD85K|ILT-3|ILT3|LIR-5|LIR5	19q13.42	leukocyte immunoglobulin like receptor B4	This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. The receptor can also function in antigen capture and presentation. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
LILRB5	chr19	54249431	54257301	-	ENSG00000105609.16	protein_coding	CD85C|LIR-8|LIR8	19q13.42	leukocyte immunoglobulin like receptor B5	This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). Several other LIR subfamily B receptors are expressed on immune cells where they bind to MHC class I molecules on antigen-presenting cells and inhibit stimulation of an immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
LILRP1	chr19	54696604	54700905	+	ENSG00000186152.6	unprocessed_pseudogene	CD85l|ILT9|LILRA6P	19q13.42	leukocyte immunoglobulin-like receptor pseudogene 1	-
LILRP2	chr19	54707916	54713453	+	ENSG00000170858.10	transcribed_processed_pseudogene	CD85m|ILT10|LILRA5	19q13.42	leukocyte immunoglobulin-like receptor pseudogene 2	Low expression observed in reference dataset
LIMA1	chr12	50175788	50283546	-	ENSG00000050405.13	protein_coding	EPLIN|LDLCQ8|SREBP3	12q13.12	LIM domain and actin binding 1	This gene encodes a cytoskeleton-associated protein that inhibits actin filament depolymerization and cross-links filaments in bundles. It is downregulated in some cancer cell lines. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and expression of some of the variants maybe independently regulated. [provided by RefSeq, Aug 2011]
LIMD1	chr3	45555394	45686338	+	ENSG00000144791.9	protein_coding	-	3p21.31	LIM domain containing 1	-
LIMD1-AS1	chr3	45679043	45689134	-	ENSG00000230530.1	antisense	-	3p21.31	LIMD1 antisense RNA 1	-
LIMD2	chr17	63695902	63701172	-	ENSG00000136490.8	protein_coding	-	17q23.3	LIM domain containing 2	-
LIME1	chr20	63736283	63739103	+	ENSG00000203896.9	protein_coding	LIME|dJ583P15.4	20q13.33	Lck interacting transmembrane adaptor 1	This gene encodes a transmembrane adaptor protein that links the T and B-cell receptor stimulation to downstream signaling pathways via its association with the Src family kinases Lck and Lyn, respectively. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2015]
LIMK1	chr7	74082933	74122525	+	ENSG00000106683.14	protein_coding	LIMK|LIMK-1	7q11.23	LIM domain kinase 1	There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. LIMK1 is a serine/threonine kinase that regulates actin polymerization via phosphorylation and inactivation of the actin binding factor cofilin. This protein is ubiquitously expressed during development and plays a role in many cellular processes associated with cytoskeletal structure. This protein also stimulates axon growth and may play a role in brain development. LIMK1 hemizygosity is implicated in the impaired visuospatial constructive cognition of Williams syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Feb 2011]
LIMK2	chr22	31212239	31280080	+	ENSG00000182541.17	protein_coding	-	22q12.2	LIM domain kinase 2	Ubiquitous expression in skin (RPKM 19.7), placenta (RPKM 19.5) and 25 other tissues
LIMS1	chr2	108534355	108687246	+	ENSG00000169756.16	protein_coding	PINCH|PINCH-1|PINCH1	2q12.3	LIM zinc finger domain containing 1	The protein encoded by this gene is an adaptor protein which contains five LIM domains, or double zinc fingers. The protein is likely involved in integrin signaling through its LIM domain-mediated interaction with integrin-linked kinase, found in focal adhesion plaques. It is also thought to act as a bridge linking integrin-linked kinase to NCK adaptor protein 2, which is involved in growth factor receptor kinase signaling pathways. Its localization to the periphery of spreading cells also suggests that this protein may play a role in integrin-mediated cell adhesion or spreading. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
LIMS1-AS1	chr2	108676795	108678601	-	ENSG00000228763.1	antisense	-	2q12.3	LIMS1 antisense RNA 1	-
LIMS2	chr2	127638381	127681786	-	ENSG00000072163.19	protein_coding	LGMD2W|MDRCMTT|PINCH-2|PINCH2	2q14.3	LIM zinc finger domain containing 2	This gene encodes a member of a small family of focal adhesion proteins which interacts with ILK (integrin-linked kinase), a protein which effects protein-protein interactions with the extraceullar matrix. The encoded protein has five LIM domains, each domain forming two zinc fingers, which permit interactions which regulate cell shape and migration. A pseudogene of this gene is located on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
LIN28A	chr1	26410778	26429722	+	ENSG00000131914.10	protein_coding	CSDD1|LIN-28|LIN28|ZCCHC1|lin-28A	1p36.11	lin-28 homolog A	This gene encodes a LIN-28 family RNA-binding protein that acts as a posttranscriptional regulator of genes involved in developmental timing and self-renewal in embryonic stem cells. The encoded protein functions through direct interaction with target mRNAs and by disrupting the maturation of certain miRNAs involved in embryonic development. This protein prevents the terminal processing of the LET7 family of microRNAs which are major regulators of cellular growth and differentiation. Aberrant expression of this gene is associated with cancer progression in multiple tissues. [provided by RefSeq, Sep 2015]
LIN28B	chr6	104936616	105083332	+	ENSG00000187772.7	protein_coding	CSDD2	6q16.3-q21	lin-28 homolog B	The protein encoded by this gene belongs to the lin-28 family, which is characterized by the presence of a cold-shock domain and a pair of CCHC zinc finger domains. This gene is highly expressed in testis, fetal liver, placenta, and in primary human tumors and cancer cell lines. It is negatively regulated by microRNAs that target sites in the 3 UTR, and overexpression of this gene in primary tumors is linked to the repression of let-7 family of microRNAs and derepression of let-7 targets, which facilitates cellular transformation. [provided by RefSeq, Jun 2012]
LIN28B-AS1	chr6	104864464	104941447	-	ENSG00000203809.6	lincRNA	C6orf220|LINC00577|dJ439I14.1	6q16.3	LIN28B antisense RNA 1	Low expression observed in reference dataset
LIN37	chr19	35748361	35754519	+	ENSG00000267796.7	protein_coding	F25965|ZK418.4|lin-37	19q13.12	lin-37 DREAM MuvB core complex component	This gene encodes a protein expressed in the eye. [provided by RefSeq, Jul 2008]
LIN52	chr14	74084796	74201235	+	ENSG00000205659.10	protein_coding	C14orf46|c14_5549	14q24.3	lin-52 DREAM MuvB core complex component	Low expression observed in reference dataset
LIN54	chr4	82909973	83012926	-	ENSG00000189308.10	protein_coding	CXCDC1|JC8.6|MIP120|TCX1	4q21.22	lin-54 DREAM MuvB core complex component	LIN54 is a component of the LIN, or DREAM, complex, an essential regulator of cell cycle genes (Schmit et al., 2009 [PubMed 19725879]).[supplied by OMIM, Dec 2010]
LIN7A	chr12	80792520	80937925	-	ENSG00000111052.7	protein_coding	LIN-7A|LIN7|MALS-1|MALS1|TIP-33|VELI1	12q21.31	lin-7 homolog A, crumbs cell polarity complex component	The protein encoded by this gene is involved in generating and maintaining the asymmetric distribution of channels and receptors at the cell membrane. The encoded protein also is required for the localization of some specific channels and can be part of a protein complex that couples synaptic vesicle exocytosis to cell adhesion in the brain. [provided by RefSeq, May 2016]
LIN7B	chr19	49114324	49118460	+	ENSG00000104863.11	protein_coding	LIN-7B|MALS-2|MALS2|VELI2	19q13.33	lin-7 homolog B, crumbs cell polarity complex component	Ubiquitous expression in brain (RPKM 4.4), testis (RPKM 3.8) and 25 other tissues
LIN7C	chr11	27494576	27506773	-	ENSG00000148943.11	protein_coding	LIN-7-C|LIN-7C|MALS-3|MALS3|VELI3	11p14.1	lin-7 homolog C, crumbs cell polarity complex component	Ubiquitous expression in thyroid (RPKM 9.8), liver (RPKM 7.0) and 25 other tissues
LINC-PINT	chr7	130941760	131110176	-	ENSG00000231721.6	antisense	LincRNA-Pint|MKLN1-AS1|PINT	7q32.3	long intergenic non-protein coding RNA, p53 induced transcript	Ubiquitous expression in bone marrow (RPKM 3.9), brain (RPKM 3.1) and 24 other tissues
LINC00028	chr20	31485778	31487574	+	ENSG00000233354.1	lincRNA	C20orf93|NCRNA00028|dJ1093G12.6	20q11.21	long intergenic non-protein coding RNA 28	Low expression observed in reference dataset
LINC00092	chr9	96019732	96027965	-	ENSG00000225194.2	lincRNA	NCRNA00092	9q22.32	long intergenic non-protein coding RNA 92	Broad expression in thyroid (RPKM 1.9), ovary (RPKM 1.2) and 19 other tissues
LINC00114	chr21	38739021	38747460	-	ENSG00000223806.7	lincRNA	C21orf24|NCRNA00114	21q22.2	long intergenic non-protein coding RNA 114	Low expression observed in reference dataset
LINC00115	chr1	826206	827522	-	ENSG00000225880.5	lincRNA	NCRNA00115	1p36.33	long intergenic non-protein coding RNA 115	-
LINC00163	chr21	44989864	44994086	-	ENSG00000234880.1	lincRNA	C21orf134|NCRNA00163|NLC1-A|NLC1A	21q22.3	long intergenic non-protein coding RNA 163	Low expression observed in reference dataset
LINC00174	chr7	66376044	66493566	-	ENSG00000179406.7	processed_transcript	NCRNA00174	7q11.21	long intergenic non-protein coding RNA 174	Broad expression in testis (RPKM 4.6), skin (RPKM 2.7) and 24 other tissues
LINC00189	chr21	29193480	29288205	+	ENSG00000215533.8	sense_overlapping	C21orf109|NCRNA00189	21q21.3	long intergenic non-protein coding RNA 189	Broad expression in placenta (RPKM 1.2), heart (RPKM 0.5) and 16 other tissues
LINC00208	chr8	11576313	11581342	+	ENSG00000170983.3	lincRNA	C8orf14|NCRNA00208|VIR35	8p23.1	long intergenic non-protein coding RNA 208	Low expression observed in reference dataset
LINC00222	chr6	108751654	108769942	+	ENSG00000203801.8	lincRNA	C6orf181|NCRNA00222|dJ354J5.2	6q21	long intergenic non-protein coding RNA 222	Low expression observed in reference dataset
LINC00229	chr22	44606939	44625419	-	ENSG00000234300.1	lincRNA	C22orf10|NCRNA00229|dJ474I12.C22.2	22q13.31	long intergenic non-protein coding RNA 229	Restricted expression toward testis (RPKM 4.5)
LINC00235	chr16	525155	527407	-	ENSG00000277142.1	lincRNA	C16orf10|LA16c-356B8.1|NCRNA00235	16p13.3	long intergenic non-protein coding RNA 235	-
LINC00237	chr20	21087604	21106358	-	ENSG00000225127.2	lincRNA	NCRNA00237	20p11.23	long intergenic non-protein coding RNA 237	Low expression observed in reference dataset
LINC00239	chr14	101730437	101732522	+	ENSG00000258512.1	lincRNA	C14orf72|NCRNA00239	14q32.31	long intergenic non-protein coding RNA 239	Broad expression in lymph node (RPKM 1.6), appendix (RPKM 1.5) and 14 other tissues
LINC00240	chr6	26956992	27023924	+	ENSG00000224843.6	lincRNA	C6orf41|NCRNA00240|bA373D17.1	6p22.2	long intergenic non-protein coding RNA 240	Broad expression in testis (RPKM 1.1), thyroid (RPKM 0.8) and 21 other tissues
LINC00243	chr6	30798654	30830659	-	ENSG00000214894.6	lincRNA	C6orf214|NCRNA00243	6p21.33	long intergenic non-protein coding RNA 243	Low expression observed in reference dataset
LINC00261	chr20	22547671	22578642	-	ENSG00000259974.2	lincRNA	ALIEN|C20orf56|DEANR1|FALCOR|HCCDR1|NCRNA00261|TCONS_00027846|onco-lncRNA-17	20p11.21	long intergenic non-protein coding RNA 261	This gene produces a long non-coding RNA that acts as a negative regulator of cell growth. This transcript may promote differentiation and apoptosis. [provided by RefSeq, Dec 2017]
LINC00266-1	chr20	64290385	64313132	+	ENSG00000149656.8	lincRNA	C20orf69|NCRNA00266|NCRNA00266-1|RBRP|bA476I15.3	20q13.33	long intergenic non-protein coding RNA 266-1	-
LINC00290	chr4	181064089	181159149	-	ENSG00000248197.1	lincRNA	NCRNA00290	4q34.3	long intergenic non-protein coding RNA 290	Low expression observed in reference dataset
LINC00299	chr2	8007771	8383621	-	ENSG00000236790.5	lincRNA	C2orf46|NCRNA00299	2p25.1	long intergenic non-protein coding RNA 299	Low expression observed in reference dataset
LINC00302	chr1	152655477	152656804	+	ENSG00000176075.7	lincRNA	C1orf46|NCRNA00302|xp33	1q21.3	long intergenic non-protein coding RNA 302	-
LINC00304	chr16	89159146	89164245	+	ENSG00000180422.3	lincRNA	C16orf81|NCRNA00304	16q24.3	long intergenic non-protein coding RNA 304	Low expression observed in reference dataset
LINC00310	chr21	34157724	34190244	+	ENSG00000227456.7	lincRNA	C21orf82|NCRNA00310	21q22.11	long intergenic non-protein coding RNA 310	Low expression observed in reference dataset
LINC00311	chr16	85282958	85285963	+	ENSG00000179219.5	lincRNA	NCRNA00311|TMEM148	16q24.1	long intergenic non-protein coding RNA 311	Low expression observed in reference dataset
LINC00312	chr3	 8571782	8574668	+	-	ncRNA	ERR-10|ERR10|LMCD1DN|LOH3CR2A|NAG-7|NAG7|NCRNA00312	3p25.3	long intergenic non-protein coding RNA 312	This gene produces an intronless transcript that is thought to function as a tumor suppressor. This transcript is downregulated in nasopharyngeal carcinoma and is a negative regulator of estrogen receptor signaling. A common polymorphism in this transcript allows the production of a 94 aa open reading frame in some individuals, which may interact directly with estrogen receptor 1 (PMID:15474036). This open reading frame does not exist on the reference genome haplotype, which is hypothesized to function through a non-coding RNA product. [provided by RefSeq, Mar 2017]
LINC00315	chr21	45300245	45305257	-	ENSG00000184274.3	lincRNA	C21orf93|NCRNA00315	21q22.3	long intergenic non-protein coding RNA 315	-
LINC00320	chr21	20742590	20803216	-	ENSG00000224924.6	lincRNA	C21orf131|NCRNA00320|PRED14	21q21.1	long intergenic non-protein coding RNA 320	Restricted expression toward brain (RPKM 6.9)
LINC00323	chr21	41141493	41148133	-	ENSG00000226496.2	antisense	C21orf130|NCRNA00323|PRED42	21q22.2	long intergenic non-protein coding RNA 323	Low expression observed in reference dataset
LINC00324	chr17	8220642	8224043	-	ENSG00000178977.3	lincRNA	C17orf44|NCRNA00324	17p13.1	long intergenic non-protein coding RNA 324	Ubiquitous expression in lymph node (RPKM 2.5), spleen (RPKM 2.2) and 24 other tissues
LINC00326	chr6	133088080	133106578	+	ENSG00000231023.6	lincRNA	NCRNA00326	6q23.2	long intergenic non-protein coding RNA 326	Restricted expression toward testis (RPKM 4.9)
LINC00334	chr21	45234340	45264548	+	ENSG00000182586.8	lincRNA	C21orf89|NCRNA00334	21q22.3	long intergenic non-protein coding RNA 334	Low expression observed in reference dataset
LINC00336	chr6	33586106	33593338	-	ENSG00000197251.3	lincRNA	C6orf227|NCRNA00336	6p21.31	long intergenic non-protein coding RNA 336	Low expression observed in reference dataset
LINC00339	chr1	22024531	22031225	+	ENSG00000218510.6	lincRNA	HSPC157|NCRNA00339	1p36.12	long intergenic non-protein coding RNA 339	Ubiquitous expression in pancreas (RPKM 12.3), ovary (RPKM 9.6) and 25 other tissues
LINC00342	chr2	95807118	95816215	-	ENSG00000232931.5	lincRNA	NCRNA00342	2q11.1	long intergenic non-protein coding RNA 342	-
LINC00347	chr13	74552503	74565445	+	ENSG00000236678.7	lincRNA	-	13q22.1	long intergenic non-protein coding RNA 347	-
LINC00354	chr13	111899985	111901176	+	ENSG00000226903.1	lincRNA	-	13q34	long intergenic non-protein coding RNA 354	-
LINC00364	chr13	67372387	67379976	+	ENSG00000230040.1	lincRNA	LncRNA00364	13q21.32	long intergenic non-protein coding RNA 364	Low expression observed in reference dataset
LINC00365	chr13	30103178	30108875	-	ENSG00000224511.1	lincRNA	-	13q12.3	long intergenic non-protein coding RNA 365	-
LINC00426	chr13	30340270	30377145	-	ENSG00000238121.5	lincRNA	-	13q12.3	long intergenic non-protein coding RNA 426	-
LINC00437	chr13	38533343	38545299	-	ENSG00000236354.1	lincRNA	TCONS_00021639	13q13.3	long intergenic non-protein coding RNA 437	Low expression observed in reference dataset
LINC00442	chr13	19008259	19012559	+	ENSG00000232685.4	antisense	-	13q12.11	long intergenic non-protein coding RNA 442	-
LINC00445	chr13	35697524	35699256	+	ENSG00000236036.1	lincRNA	-	13q13.3	long intergenic non-protein coding RNA 445	-
LINC00446	chr13	78012883	78053595	+	ENSG00000229249.6	lincRNA	-	13q22.3	long intergenic non-protein coding RNA 446	-
LINC00452	chr13	113888306	113923512	+	ENSG00000229373.8	lincRNA	LINC00453	13q34	long intergenic non-protein coding RNA 452	Low expression observed in reference dataset
LINC00461	chr5	88507546	88691041	-	ENSG00000245526.10	lincRNA	ECONEXIN|EyeLinc1|NDIME|VISC	5q14.3	long intergenic non-protein coding RNA 461	This is an evolutionarily conserved gene that produces alternatively spliced long non-coding RNAs that may be expressed predominantly in the brain and visual cortex. These transcripts may be involved in tumorigenesis, as depletion by siRNA suppressed glioma cell division. Transcripts may also bind to and regulate the activity of miR-411-5p and argonaut 2, thereby altering the expression of genes involved in tumor growth. [provided by RefSeq, Nov 2017]
LINC00462	chr13	48576974	48578088	-	ENSG00000233610.1	lincRNA	-	13q14.2	long intergenic non-protein coding RNA 462	-
LINC00466	chr1	63159087	63317274	-	ENSG00000224209.7	processed_transcript	-	1p31.3	long intergenic non-protein coding RNA 466	-
LINC00467	chr1	211382803	211435333	+	ENSG00000153363.12	lincRNA	C1orf97	1q32.3	long intergenic non-protein coding RNA 467	Biased expression in testis (RPKM 117.7) and thyroid (RPKM 6.1)
LINC00471	chr2	231508426	231514339	-	ENSG00000181798.2	lincRNA	C2orf52	2q37.1	long intergenic non-protein coding RNA 471	Broad expression in testis (RPKM 1.3), thyroid (RPKM 0.4) and 20 other tissues
LINC00472	chr6	71344344	71420769	-	ENSG00000233237.6	lincRNA	C6orf155|P53RRA	6q13	long intergenic non-protein coding RNA 472	Broad expression in kidney (RPKM 3.8), thyroid (RPKM 2.0) and 20 other tissues
LINC00473	chr6	165908802	165988048	-	ENSG00000223414.2	lincRNA	C6orf176|LNC473|bA142J11.1	6q27	long intergenic non-protein coding RNA 473	Involved in transcription, DNA-templated. [provided by Alliance of Genome Resources, Apr 2022]
LINC00475	chr9	92141298	92160114	+	ENSG00000225511.6	lincRNA	C9orf44	9q22.31	long intergenic non-protein coding RNA 475	-
LINC00476	chr9	95759231	95875977	-	ENSG00000175611.11	processed_transcript	C9orf130|NAG11|NAG12	9q22.32	long intergenic non-protein coding RNA 476	Ubiquitous expression in prostate (RPKM 1.4), ovary (RPKM 1.4) and 25 other tissues
LINC00477	chr12	24566964	24584168	-	ENSG00000197503.4	lincRNA	C12orf67|FAM191B	12p12.1	long intergenic non-protein coding RNA 477	Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
LINC00484	chr9	91119062	91182762	+	ENSG00000229694.6	lincRNA	C9orf73	9q22.2	long intergenic non-protein coding RNA 484	Low expression observed in reference dataset
LINC00485	chr12	102809280	102824399	-	ENSG00000258169.1	lincRNA	-	12q23.2	long intergenic non-protein coding RNA 485	-
LINC00486	chr2	32825443	32926693	+	ENSG00000230876.6	lincRNA	-	2p22.3	long intergenic non-protein coding RNA 486	-
LINC00491	chr5	102609156	102671559	-	ENSG00000250682.5	lincRNA	-	5q21.1	long intergenic non-protein coding RNA 491	-
LINC00494	chr20	48359950	48370629	+	ENSG00000235621.8	lincRNA	-	20q13.13	long intergenic non-protein coding RNA 494	-
LINC00504	chr4	14470465	14888169	-	ENSG00000248360.7	lincRNA	-	4p15.33	long intergenic non-protein coding RNA 504	-
LINC00506	chr3	87089129	87157069	+	ENSG00000281392.1	lincRNA	-	3p12.1-p11.2	long intergenic non-protein coding RNA 506	-
LINC00520	chr14	55781135	55796688	-	ENSG00000258791.7	lincRNA	C14orf34|LASSIE	14q22.3	long intergenic non-protein coding RNA 520	Low expression observed in reference dataset
LINC00523	chr14	100657250	100676069	+	ENSG00000196273.7	lincRNA	C14orf70	14q32.2	long intergenic non-protein coding RNA 523	Low expression observed in reference dataset
LINC00526	chr18	5236724	5238598	-	ENSG00000264575.1	lincRNA	C18orf18|HsT959	18p11.31	long intergenic non-protein coding RNA 526	-
LINC00533	chr6	28648286	28649066	-	ENSG00000235570.1	lincRNA	C6orf38|C6orf39	6p22.1	long intergenic non-protein coding RNA 533	Low expression observed in reference dataset
LINC00543	chr13	27953526	27955370	+	ENSG00000260704.1	lincRNA	-	13q12.2	long intergenic non-protein coding RNA 543	-
LINC00552	chr13	113748511	113751089	-	ENSG00000279770.1	TEC	-	13q34	long intergenic non-protein coding RNA 552	-
LINC00560	chr13	88626853	88630397	+	ENSG00000261666.1	lincRNA	-	13q31.2	long intergenic non-protein coding RNA 560	-
LINC00562	chr13	47930153	47932622	-	ENSG00000260388.2	lincRNA	-	13q14.2	long intergenic non-protein coding RNA 562	-
LINC00565	chr13	113926514	113928844	-	ENSG00000260910.1	lincRNA	-	13q34	long intergenic non-protein coding RNA 565	-
LINC00575	chr4	82613113	82621437	-	ENSG00000231782.6	lincRNA	C4orf11	4q21.22	long intergenic non-protein coding RNA 575	Low expression observed in reference dataset
LINC00578	chr3	177441921	177752305	+	ENSG00000228221.5	lincRNA	-	3q26.32	long intergenic non-protein coding RNA 578	-
LINC00593	chr15	69835234	69843120	+	ENSG00000259703.5	lincRNA	C15orf50	15q23	long intergenic non-protein coding RNA 593	Low expression observed in reference dataset
LINC00596	chr14	23922247	23934568	-	ENSG00000259334.1	lincRNA	C14orf165|CNSLT1I7G	14q11.2	long intergenic non-protein coding RNA 596	-
LINC00598	chr13	40079106	40535807	-	ENSG00000215483.9	lincRNA	lncFOXO1	13q14.11	long intergenic non-protein coding RNA 598	Low expression observed in reference dataset
LINC00603	chr5	39892138	40053324	+	ENSG00000250048.2	lincRNA	-	5p13.1	long intergenic non-protein coding RNA 603	-
LINC00606	chr3	10759484	10764192	-	ENSG00000226567.1	lincRNA	-	3p25.3	long intergenic non-protein coding RNA 606	-
LINC00607	chr2	215611563	215843722	-	ENSG00000235770.5	lincRNA	-	2q35	long intergenic non-protein coding RNA 607	-
LINC00608	chr2	218975393	218989940	+	ENSG00000236445.4	antisense	-	2q35	long intergenic non-protein coding RNA 608	-
LINC00609	chr14	36070427	36165288	+	ENSG00000257585.1	lincRNA	-	14q13.2-q13.3	long intergenic non-protein coding RNA 609	-
LINC00612	chr12	9055586	9065070	-	ENSG00000214851.4	processed_transcript	C12orf33	12p13.31	long intergenic non-protein coding RNA 612	Low expression observed in reference dataset
LINC00622	chr1	119597702	119599271	-	ENSG00000260941.1	sense_overlapping	-	1p12	long intergenic non-protein coding RNA 622	-
LINC00623	chr1	120913275	121009291	+	ENSG00000226067.6	lincRNA	CH17-118O6.2	1p11.2	long intergenic non-protein coding RNA 623	Ubiquitous expression in lymph node (RPKM 5.8), spleen (RPKM 5.8) and 25 other tissues
LINC00636	chr3	107883248	107928907	+	ENSG00000240423.1	lincRNA	-	3q13.12	long intergenic non-protein coding RNA 636	-
LINC00641	chr14	21200079	21206900	-	ENSG00000258441.1	processed_transcript	-	14q11.2	long intergenic non-protein coding RNA 641	-
LINC00643	chr14	62114353	62130962	+	ENSG00000186369.10	transcribed_unitary_pseudogene	-	14q23.2	long intergenic non-protein coding RNA 643	-
LINC00649	chr21	33915534	33977691	+	ENSG00000237945.7	antisense	LINC00650|lnc-ITSN1-2	21q22.11	long intergenic non-protein coding RNA 649	Broad expression in lymph node (RPKM 1.8), placenta (RPKM 1.7) and 23 other tissues
LINC00652	chr20	18786065	18794335	-	ENSG00000179935.9	lincRNA	HSPC072	20p11.23	long intergenic non-protein coding RNA 652	Low expression observed in reference dataset
LINC00663	chr19	19757366	19776423	-	ENSG00000266904.5	lincRNA	-	19p13.11	long intergenic non-protein coding RNA 663	-
LINC00665	chr19	36313067	36331718	-	ENSG00000232677.6	lincRNA	CIP2A-BP	19q13.12	long intergenic non-protein coding RNA 665	Ubiquitous expression in thyroid (RPKM 5.2), kidney (RPKM 3.8) and 24 other tissues
LINC00667	chr18	5237826	5246508	+	ENSG00000263753.6	lincRNA	-	18p11.31	long intergenic non-protein coding RNA 667	-
LINC00671	chr17	42874670	42898704	-	ENSG00000213373.7	lincRNA	-	17q21.31	long intergenic non-protein coding RNA 671	-
LINC00672	chr17	38925168	38929384	+	ENSG00000263874.2	protein_coding	-	17q12	long intergenic non-protein coding RNA 672	-
LINC00674	chr17	68101908	68115518	+	ENSG00000237854.3	transcribed_unprocessed_pseudogene	-	17q24.2	long intergenic non-protein coding RNA 674	-
LINC00677	chr14	103120847	103123007	-	ENSG00000259717.1	lincRNA	C14orf74	14q32.32	long intergenic non-protein coding RNA 677	Biased expression in testis (RPKM 1.2), spleen (RPKM 0.5) and 11 other tissues
LINC00680	chr6	57946074	57961501	-	ENSG00000215190.9	transcribed_unprocessed_pseudogene	-	6p11.2	long intergenic non-protein coding RNA 680	-
LINC00683	chr18	76615212	76625940	+	ENSG00000266256.1	lincRNA	-	18q23	long intergenic non-protein coding RNA 683	-
LINC00689	chr7	159006522	159030195	+	ENSG00000231419.6	processed_transcript	-	7q36.3	long intergenic non-protein coding RNA 689	-
LINC00696	chr3	 52062094	52065112	-	-	ncRNA	C3orf74	3p21.2	long intergenic non-protein coding RNA 696	-
LINC00707	chr10	6779598	6842906	+	ENSG00000238266.1	lincRNA	-	10p14	long intergenic non-protein coding RNA 707	-
LINC00847	chr5	180830957	180835726	+	ENSG00000245060.6	lincRNA	-	5q35.3	long intergenic non-protein coding RNA 847	-
LINC00852	chr3	10284419	10285746	+	ENSG00000231177.4	antisense	C3orf42|GHRL-AS2|GHRLOS2|NAG73	3p25.3	long intergenic non-protein coding RNA 852	-
LINC00853	chr1	47179250	47180339	+	ENSG00000224805.2	antisense	PDZK1IP1-AS1|ncRNA-a4	1p33	long intergenic non-protein coding RNA 853	Broad expression in kidney (RPKM 1.7), thyroid (RPKM 0.4) and 16 other tissues
LINC00862	chr1	200253419	200400705	-	ENSG00000203721.6	lincRNA	C1orf98|SMIM16	1q32.1	long intergenic non-protein coding RNA 862	Low expression observed in reference dataset
LINC00869	chr1	149606334	149679523	+	ENSG00000277147.4	lincRNA	FAM91A2	1q21.2	long intergenic non-protein coding RNA 869	Predicted to be involved in intracellular protein transport and vesicle tethering to Golgi. Predicted to be active in cytoplasmic vesicle and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022]
LINC00880	chr3	157081667	157123004	-	ENSG00000243629.1	lincRNA	-	3q25.31	long intergenic non-protein coding RNA 880	-
LINC00881	chr3	157089881	157101135	+	ENSG00000241135.5	lincRNA	-	3q25.31	long intergenic non-protein coding RNA 881	-
LINC00885	chr3	196142636	196160890	+	ENSG00000224652.1	lincRNA	-	3q29	long intergenic non-protein coding RNA 885	-
LINC00886	chr3	156747346	156817062	-	ENSG00000240875.5	lincRNA	-	3q25.31	long intergenic non-protein coding RNA 886	-
LINC00899	chr22	46039907	46044853	-	ENSG00000231711.2	processed_transcript	-	22q13.31	long intergenic non-protein coding RNA 899	-
LINC00907	chr18	42159283	42691422	+	ENSG00000267586.6	lincRNA	-	18q12.3	long intergenic non-protein coding RNA 907	-
LINC00910	chr17	43369845	43389199	-	ENSG00000188825.13	lincRNA	-	17q21.31	long intergenic non-protein coding RNA 910	-
LINC00911	chr14	85393879	85420074	+	ENSG00000259107.1	lincRNA	-	14q31.3	long intergenic non-protein coding RNA 911	-
LINC00921	chr16	3263743	3267567	+	ENSG00000281005.1	lincRNA	-	16p13.3	long intergenic non-protein coding RNA 921	-
LINC00922	chr16	65284499	65576300	-	ENSG00000261742.5	lincRNA	Lnc-LALC	16q21	long intergenic non-protein coding RNA 922	Low expression observed in reference dataset
LINC00926	chr15	57300365	57307769	+	ENSG00000247982.6	lincRNA	-	15q21.3	long intergenic non-protein coding RNA 926	-
LINC00928	chr15	89505277	89524034	-	ENSG00000259218.5	lincRNA	-	15q26.1	long intergenic non-protein coding RNA 928	-
LINC00933	chr15	84570649	84580175	+	ENSG00000259728.5	transcribed_unprocessed_pseudogene	-	15q25.2	long intergenic non-protein coding RNA 933	-
LINC00941	chr12	30795681	30802711	+	ENSG00000235884.3	lincRNA	lncRNA-MUF	12p11.21	long intergenic non-protein coding RNA 941	-
LINC00945	chr21	33057829	33064983	+	ENSG00000232539.1	lincRNA	-	21q22.11	long intergenic non-protein coding RNA 945	-
LINC00954	chr2	19868860	19885047	+	ENSG00000228784.7	lincRNA	-	2p24.1	long intergenic non-protein coding RNA 954	-
LINC00967	chr8	66192093	66197315	+	ENSG00000253138.5	lincRNA	-	8q13.1	long intergenic non-protein coding RNA 967	-
LINC00968	chr8	56496246	56559823	-	ENSG00000246430.6	lincRNA	-	8q12.1	long intergenic non-protein coding RNA 968	-
LINC00974	chr17	41549606	41554495	-	ENSG00000226629.1	lincRNA	-	17q21.2	long intergenic non-protein coding RNA 974	-
LINC00987	chr12	9240003	9243052	+	ENSG00000237248.4	lincRNA	-	12p13.31	long intergenic non-protein coding RNA 987	-
LINC00994	chr3	64078361	64087363	-	ENSG00000189196.4	lincRNA	-	3p14.1	long intergenic non-protein coding RNA 994	-
LINC00997	chr7	32760279	32762924	+	ENSG00000281332.1	lincRNA	-	7p14.3	long intergenic non-protein coding RNA 997	-
LINC00999	chr10	 38428146	38452153	+	-	ncRNA	-	10p11.1	long intergenic non-protein coding RNA 999	-
LINC01001	chr11	127204	139612	-	ENSG00000230724.9	lincRNA	-	11p15.5	long intergenic non-protein coding RNA 1001	-
LINC01004	chr7	104950315	105013044	-	ENSG00000228393.3	antisense	-	7q22.3	long intergenic non-protein coding RNA 1004	-
LINC01012	chr6	27694035	27710222	+	ENSG00000281706.2	lincRNA	-	6p22.1	long intergenic non-protein coding RNA 1012	-
LINC01016	chr6	33867506	33896914	-	ENSG00000249346.6	lincRNA	-	6p21.31	long intergenic non-protein coding RNA 1016	-
LINC01023	chr5	108727825	108728260	-	ENSG00000272523.1	lincRNA	HP07349	5q21.3	long intergenic non-protein coding RNA 1023	-
LINC01058	chr13	30419519	30422237	-	ENSG00000225039.1	lincRNA	-	13q12.3	long intergenic non-protein coding RNA 1058	-
LINC01063	chr3	196631498	196632587	-	ENSG00000232065.1	antisense	-	3q29	long intergenic non-protein coding RNA 1063	-
LINC01068	chr13	79566727	79571436	+	ENSG00000227676.3	lincRNA	-	13q31.1	long intergenic non-protein coding RNA 1068	-
LINC01089	chr12	121795267	121803906	-	ENSG00000212694.8	lincRNA	LIMT	12q24.31	long intergenic non-protein coding RNA 1089	Ubiquitous expression in spleen (RPKM 8.0), prostate (RPKM 8.0) and 24 other tissues
LINC01090	chr2	187712816	188384313	-	ENSG00000231689.2	lincRNA	-	2q32.1	long intergenic non-protein coding RNA 1090	-
LINC01091	chr4	123650267	123930406	+	ENSG00000249464.5	lincRNA	-	4q28.1	long intergenic non-protein coding RNA 1091	-
LINC01094	chr4	78645903	78682699	+	ENSG00000251442.5	lincRNA	CTEPHA1	4q21.21	long intergenic non-protein coding RNA 1094	Biased expression in brain (RPKM 6.2), placenta (RPKM 2.2) and 7 other tissues
LINC01096	chr4	13546075	13547801	-	ENSG00000246095.2	lincRNA	-	4p15.33	long intergenic non-protein coding RNA 1096	-
LINC01099	chr4	177729638	177907936	-	ENSG00000251504.1	lincRNA	-	4q34.3	long intergenic non-protein coding RNA 1099	-
LINC01101	chr2	120464335	120466218	-	ENSG00000280409.1	TEC	-	2q14.2	long intergenic non-protein coding RNA 1101	-
LINC01106	chr2	110375138	110384442	-	ENSG00000175772.10	lincRNA	-	2q13	long intergenic non-protein coding RNA 1106	-
LINC01107	chr2	238510690	238555054	-	ENSG00000225493.1	lincRNA	-	2q37.3	long intergenic non-protein coding RNA 1107	-
LINC01114	chr2	104746638	104757719	-	ENSG00000234177.5	lincRNA	PANCAT	2q12.1	long intergenic non-protein coding RNA 1114	Low expression observed in reference dataset
LINC01118	chr2	46816668	46822657	+	ENSG00000222005.8	lincRNA	-	2p21	long intergenic non-protein coding RNA 1118	-
LINC01119	chr2	46816697	46859007	+	ENSG00000239332.5	lincRNA	-	2p21	long intergenic non-protein coding RNA 1119	-
LINC01122	chr2	58427799	59063766	+	ENSG00000233723.7	lincRNA	-	2p16.1	long intergenic non-protein coding RNA 1122	-
LINC01124	chr2	170712451	170714567	-	ENSG00000222033.1	lincRNA	-	2q31.1	long intergenic non-protein coding RNA 1124	-
LINC01126	chr2	43227210	43228855	+	ENSG00000279873.2	lincRNA	-	2p21	long intergenic non-protein coding RNA 1126	-
LINC01127	chr2	101962056	101987167	+	ENSG00000281162.2	lincRNA	-	2q11.2	long intergenic non-protein coding RNA 1127	-
LINC01140	chr1	87129765	87169198	+	ENSG00000267272.5	lincRNA	-	1p22.3	long intergenic non-protein coding RNA 1140	-
LINC01142	chr1	170271603	170284208	-	ENSG00000224286.5	lincRNA	-	1q24.2	long intergenic non-protein coding RNA 1142	-
LINC01146	chr14	88024550	88097619	+	ENSG00000258867.5	lincRNA	-	14q31.3	long intergenic non-protein coding RNA 1146	Biased expression in liver (RPKM 4.5) and prostate (RPKM 1.5)
LINC01149	chr6	31441667	31446973	+	ENSG00000230174.1	lincRNA	-	6p21.33	long intergenic non-protein coding RNA 1149	-
LINC01150	chr11	1902647	1907915	+	ENSG00000229671.1	lincRNA	2G7|TCONS_00019134	11p15.5	long intergenic non-protein coding RNA 1150	Biased expression in placenta (RPKM 1.9), bone marrow (RPKM 0.5) and 10 other tissues
LINC01152	chr17	72030291	72041297	+	ENSG00000256124.5	lincRNA	CMPD|TCONS_00025128	17q24.3	long intergenic non-protein coding RNA 1152	Biased expression in salivary gland (RPKM 1.5), testis (RPKM 0.9) and 5 other tissues
LINC01160	chr1	111599655	111608723	-	ENSG00000231346.5	lincRNA	-	1p13.2	long intergenic non-protein coding RNA 1160	-
LINC01166	chr10	132943967	132965289	-	ENSG00000232903.2	lincRNA	-	10q26.3	long intergenic non-protein coding RNA 1166	-
LINC01167	chr10	132961340	132962237	-	ENSG00000224758.1	lincRNA	TCONS_00018075	10q26.3	long intergenic non-protein coding RNA 1167	Low expression observed in reference dataset
LINC01169	chr15	66582190	66685794	+	ENSG00000259471.1	lincRNA	-	15q22.31	long intergenic non-protein coding RNA 1169	-
LINC01180	chr17	44646364	44650349	-	ENSG00000266979.1	lincRNA	-	17q21.31	long intergenic non-protein coding RNA 1180	-
LINC01215	chr3	108125821	108138610	+	ENSG00000271856.1	lincRNA	-	3q13.12	long intergenic non-protein coding RNA 1215	-
LINC01219	chr11	1991096	1993469	+	ENSG00000232987.1	lincRNA	-	11p15.5	long intergenic non-protein coding RNA 1219	-
LINC01229	chr16	79676108	79807922	+	ENSG00000260876.5	lincRNA	-	16q23.2	long intergenic non-protein coding RNA 1229	-
LINC01231	chr9	3181589	3198517	+	ENSG00000236511.1	lincRNA	-	9p24.2	long intergenic non-protein coding RNA 1231	-
LINC01232	chr13	99486962	99499306	-	ENSG00000280734.2	processed_transcript	TCONS_00021520	13q32.3	long intergenic non-protein coding RNA 1232	Broad expression in testis (RPKM 1.2), small intestine (RPKM 0.4) and 22 other tissues
LINC01233	chr19	22532626	22533494	+	ENSG00000269364.1	lincRNA	XLOC_013014	19p12	long intergenic non-protein coding RNA 1233	Restricted expression toward testis (RPKM 2.8)
LINC01237	chr2	241881363	242078722	+	ENSG00000233806.7	processed_transcript	-	2q37.3	long intergenic non-protein coding RNA 1237	-
LINC01238	chr2	241970683	241977276	+	ENSG00000237940.3	lincRNA	-	2q37.3	long intergenic non-protein coding RNA 1238	-
LINC01239	chr9	22646200	22824213	+	ENSG00000234840.1	lincRNA	-	9p21.3	long intergenic non-protein coding RNA 1239	-
LINC01248	chr2	5602505	5691488	-	ENSG00000224128.1	antisense	-	2p25.2	long intergenic non-protein coding RNA 1248	-
LINC01251	chr9	33732975	33738416	-	ENSG00000233776.5	antisense	-	9p13.3	long intergenic non-protein coding RNA 1251	-
LINC01254	chr18	10405133	10414515	-	ENSG00000260913.1	lincRNA	-	18p11.22	long intergenic non-protein coding RNA 1254	-
LINC01259	chr4	38509767	38518056	+	ENSG00000249667.1	lincRNA	TCONS_00007515	4p14	long intergenic non-protein coding RNA 1259	-
LINC01267	chr3	14348451	14352568	-	ENSG00000251576.1	lincRNA	-	3p25.1	long intergenic non-protein coding RNA 1267	-
LINC01270	chr20	50292720	50314922	+	ENSG00000203999.8	lincRNA	-	20q13.13	long intergenic non-protein coding RNA 1270	-
LINC01271	chr20	50310711	50321342	-	ENSG00000233077.1	lincRNA	-	20q13.13	long intergenic non-protein coding RNA 1271	-
LINC01273	chr20	50172550	50176671	+	ENSG00000231742.5	lincRNA	-	20q13.13	long intergenic non-protein coding RNA 1273	-
LINC01299	chr8	65527008	65562780	-	ENSG00000254081.1	lincRNA	-	8q13.1	long intergenic non-protein coding RNA 1299	-
LINC01300	chr8	141340549	141344621	+	ENSG00000253595.5	antisense	-	8q24.3	long intergenic non-protein coding RNA 1300	-
LINC01301	chr8	60384588	60516795	-	ENSG00000251396.6	lincRNA	-	8q12.1	long intergenic non-protein coding RNA 1301	-
LINC01305	chr2	174326027	174330643	+	ENSG00000231453.1	lincRNA	-	2q31.1	long intergenic non-protein coding RNA 1305	-
LINC01315	chr22	42364400	42369236	-	ENSG00000229891.1	lincRNA	C22orf32-1|lnc-C22orf32-1	22q13.2	long intergenic non-protein coding RNA 1315	Broad expression in thyroid (RPKM 6.7), skin (RPKM 2.3) and 15 other tissues
LINC01320	chr2	34677555	34738231	+	ENSG00000228262.8	lincRNA	-	2p22.3	long intergenic non-protein coding RNA 1320	-
LINC01342	chr1	1137017	1144056	+	ENSG00000223823.1	lincRNA	-	1p36.33	long intergenic non-protein coding RNA 1342	-
LINC01352	chr1	220829255	220832429	+	ENSG00000238078.1	lincRNA	-	1q41	long intergenic non-protein coding RNA 1352	-
LINC01354	chr1	234527891	234531779	-	ENSG00000231768.1	lincRNA	-	1q42.2	long intergenic non-protein coding RNA 1354	-
LINC01355	chr1	23281309	23286752	-	ENSG00000261326.2	lincRNA	HYPAL	1p36.12	long intergenic non-protein coding RNA 1355	Ubiquitous expression in skin (RPKM 4.3), prostate (RPKM 1.6) and 22 other tissues
LINC01359	chr1	64972225	65002489	-	ENSG00000226891.7	processed_transcript	-	1p31.3	long intergenic non-protein coding RNA 1359	-
LINC01360	chr1	73306170	73355253	+	ENSG00000233973.6	lincRNA	-	1p31.1	long intergenic non-protein coding RNA 1360	-
LINC01365	chr4	119799089	119804515	-	ENSG00000250772.5	lincRNA	-	4q26	long intergenic non-protein coding RNA 1365	-
LINC01376	chr2	18986451	19346748	-	ENSG00000236204.5	lincRNA	-	2p24.2-p24.1	long intergenic non-protein coding RNA 1376	-
LINC01377	chr5	3177835	3181232	+	ENSG00000249808.2	lincRNA	-	5p15.33	long intergenic non-protein coding RNA 1377	-
LINC01381	chr2	25204313	25209202	+	ENSG00000230452.1	antisense	DADOT	2p23.3	long intergenic non-protein coding RNA 1381	Low expression observed in reference dataset
LINC01388	chr9	112713	113754	-	ENSG00000231808.2	lincRNA	-	9p24.3	long intergenic non-protein coding RNA 1388	-
LINC01389	chr1	47380928	47408477	-	ENSG00000225762.1	antisense	-	1p33	long intergenic non-protein coding RNA 1389	-
LINC01398	chr1	46446673	46451281	-	ENSG00000224863.2	processed_transcript	-	1p33	long intergenic non-protein coding RNA 1398	-
LINC01405	chr12	110936585	110958208	+	ENSG00000185847.7	lincRNA	-	12q24.11	long intergenic non-protein coding RNA 1405	-
LINC01415	chr18	55776727	55781721	-	ENSG00000267325.1	lincRNA	TCONS_00026208	18q21.2	long intergenic non-protein coding RNA 1415	-
LINC01423	chr21	38323635	38333421	-	ENSG00000231231.5	lincRNA	-	21q22.2	long intergenic non-protein coding RNA 1423	-
LINC01427	chr20	22263065	22284029	-	ENSG00000225321.2	lincRNA	-	20p11.22	long intergenic non-protein coding RNA 1427	-
LINC01444	chr18	14969001	14970468	-	ENSG00000264301.1	lincRNA	-	18p11.21	long intergenic non-protein coding RNA 1444	-
LINC01449	chr7	41101604	41133507	+	ENSG00000224017.1	lincRNA	-	7p14.1	long intergenic non-protein coding RNA 1449	-
LINC01450	chr7	40964667	40979939	-	ENSG00000232458.1	lincRNA	-	7p14.1	long intergenic non-protein coding RNA 1450	-
LINC01460	chr2	27705786	27715732	-	ENSG00000205334.2	lincRNA	-	2p23.2	long intergenic non-protein coding RNA 1460	-
LINC01465	chr12	62601751	62603690	-	ENSG00000221949.5	lincRNA	C12orf61	12q14.1	long intergenic non-protein coding RNA 1465	-
LINC01470	chr5	152618965	153223543	-	ENSG00000249484.8	lincRNA	-	5q33.1	long intergenic non-protein coding RNA 1470	-
LINC01473	chr2	186032891	186083233	-	ENSG00000237877.6	lincRNA	-	2q32.1	long intergenic non-protein coding RNA 1473	-
LINC01475	chr10	99526350	99531177	-	ENSG00000257582.5	lincRNA	-	10q24.2	long intergenic non-protein coding RNA 1475	-
LINC01476	chr17	59430869	59526946	-	ENSG00000265313.5	lincRNA	-	17q22-q23.1	long intergenic non-protein coding RNA 1476	-
LINC01478	chr18	44323436	44531697	-	ENSG00000267337.1	lincRNA	-	18q12.3	long intergenic non-protein coding RNA 1478	-
LINC01479	chr12	67929235	67970017	+	ENSG00000255772.5	lincRNA	HRAT39	12q15	long intergenic non-protein coding RNA 1479	Restricted expression toward heart (RPKM 2.6)
LINC01483	chr17	69577251	69903000	+	ENSG00000227517.6	lincRNA	-	17q24.3	long intergenic non-protein coding RNA 1483	-
LINC01484	chr5	173707614	173746211	-	ENSG00000253686.1	lincRNA	-	5q35.2	long intergenic non-protein coding RNA 1484	-
LINC01485	chr5	173786790	173809039	-	ENSG00000254211.5	lincRNA	-	5q35.2	long intergenic non-protein coding RNA 1485	-
LINC01486	chr12	109354083	109359488	-	ENSG00000256560.1	lincRNA	-	12q24.11	long intergenic non-protein coding RNA 1486	-
LINC01493	chr11	38646476	38674241	+	ENSG00000254562.5	lincRNA	-	11p12	long intergenic non-protein coding RNA 1493	-
LINC01494	chr2	218900811	218930636	-	ENSG00000228135.1	antisense	-	2q35	long intergenic non-protein coding RNA 1494	-
LINC01498	chr12	108434130	108492585	-	ENSG00000247213.6	antisense	-	12q23.3	long intergenic non-protein coding RNA 1498	-
LINC01506	chr9	68543541	68546589	-	ENSG00000234506.5	lincRNA	-	9q21.11	long intergenic non-protein coding RNA 1506	-
LINC01521	chr22	31346777	31348719	+	ENSG00000213888.3	lincRNA	-	22q12.2	long intergenic non-protein coding RNA 1521	-
LINC01524	chr20	52210645	52650431	+	ENSG00000234948.1	lincRNA	-	20q13.2	long intergenic non-protein coding RNA 1524	-
LINC01537	chr11	72570660	72573229	+	ENSG00000227467.3	lincRNA	-	11q13.4	long intergenic non-protein coding RNA 1537	-
LINC01550	chr14	97925610	97978124	-	ENSG00000246223.8	lincRNA	C14orf64	14q32.2	long intergenic non-protein coding RNA 1550	Broad expression in skin (RPKM 2.3), lymph node (RPKM 1.7) and 22 other tissues
LINC01551	chr14	28772704	28813453	+	ENSG00000186960.10	lincRNA	C14orf23|c14_5148	14q12	long intergenic non-protein coding RNA 1551	Biased expression in brain (RPKM 1.5) and testis (RPKM 0.6)
LINC01554	chr5	95852232	95860133	+	ENSG00000236882.7	lincRNA	C5orf27|FIS	5q15	long intergenic non-protein coding RNA 1554	Biased expression in liver (RPKM 18.4), salivary gland (RPKM 2.6) and 2 other tissues
LINC01556	chr6	28943877	28944537	+	ENSG00000204709.4	lincRNA	C6orf100|dJ25J6.5	6p22.1	long intergenic non-protein coding RNA 1556	-
LINC01558	chr6	167784537	167796859	-	ENSG00000146521.9	lincRNA	C6orf123|HGC6.2|LINC01557|dJ431P23.4	6q27	long intergenic non-protein coding RNA 1558	Broad expression in liver (RPKM 1.4), small intestine (RPKM 0.9) and 16 other tissues
LINC01563	chr17	21075556	21090615	+	ENSG00000236819.1	lincRNA	HP08942	17p11.2	long intergenic non-protein coding RNA 1563	Biased expression in brain (RPKM 1.8), prostate (RPKM 0.5) and 2 other tissues
LINC01565	chr3	128572000	128576086	-	ENSG00000198685.3	lincRNA	C3orf27|GR6	3q21.3	long intergenic non-protein coding RNA 1565	Low expression observed in reference dataset
LINC01569	chr16	4245825	4253789	-	ENSG00000262468.5	lincRNA	-	16p13.3	long intergenic non-protein coding RNA 1569	-
LINC01571	chr16	51762519	51773173	+	ENSG00000260057.5	lincRNA	-	16q12.1	long intergenic non-protein coding RNA 1571	-
LINC01585	chr15	90660234	90664967	+	ENSG00000245479.2	sense_overlapping	-	15q26.1	long intergenic non-protein coding RNA 1585	-
LINC01586	chr15	88585566	88605110	-	ENSG00000249487.6	lincRNA	-	15q26.1	long intergenic non-protein coding RNA 1586	-
LINC01589	chr22	45604432	45605621	-	ENSG00000238120.1	antisense	TCONS_00029353	22q13.31	long intergenic non-protein coding RNA 1589	Biased expression in testis (RPKM 2.5), gall bladder (RPKM 0.9) and 13 other tissues
LINC01590	chr6	 87397124	87399741	+	ENSG00000111850	ncRNA	C6orf164|dJ102H19.4	6q15	long intergenic non-protein coding RNA 1590	Low expression observed in reference dataset
LINC01597	chr20	30278906	30288479	-	ENSG00000205611.4	lincRNA	-	20q11.1	long intergenic non-protein coding RNA 1597	-
LINC01600	chr6	2621913	2634603	-	ENSG00000164385.8	lincRNA	C6orf195|bA145H9.2	6p25.2	long intergenic non-protein coding RNA 1600	Low expression observed in reference dataset
LINC01602	chr8	57978358	57984126	+	ENSG00000205293.3	lincRNA	T1560	8q12.1	long intergenic non-protein coding RNA 1602	Low expression observed in reference dataset
LINC01605	chr8	37421341	37554183	-	ENSG00000253161.5	lincRNA	LincDUSP	8p11.23	long intergenic non-protein coding RNA 1605	Low expression observed in reference dataset
LINC01606	chr8	57142689	57240298	+	ENSG00000253301.5	lincRNA	-	8q12.1	long intergenic non-protein coding RNA 1606	-
LINC01615	chr6	169158092	169162924	-	ENSG00000223485.2	lincRNA	-	6q27	long intergenic non-protein coding RNA 1615	-
LINC01616	chr11	29980113	29982392	-	ENSG00000261340.1	lincRNA	n341006	11p14.1	long intergenic non-protein coding RNA 1616	-
LINC01619	chr12	91984976	92142914	-	ENSG00000257242.7	processed_transcript	C12orf79	12q21.33	long intergenic non-protein coding RNA 1619	Biased expression in bone marrow (RPKM 7.3), lymph node (RPKM 0.9) and 6 other tissues
LINC01623	chr6	28859625	28864630	-	ENSG00000225595.2	lincRNA	-	6p22.1	long intergenic non-protein coding RNA 1623	-
LINC01625	chr6	139468995	139474596	-	ENSG00000238099.2	lincRNA	-	6q24.1	long intergenic non-protein coding RNA 1625	-
LINC01635	chr1	22023990	22026048	-	ENSG00000228397.2	lincRNA	-	1p36.12	long intergenic non-protein coding RNA 1635	-
LINC01641	chr1	227393591	227431035	+	ENSG00000234277.2	lincRNA	-	1q42.13	long intergenic non-protein coding RNA 1641	-
LINC01644	chr22	47461299	47487111	-	ENSG00000218357.3	lincRNA	LL22NC03-75H12.2	22q13.31	long intergenic non-protein coding RNA 1644	Low expression observed in reference dataset
LINC01664	chr22	17121586	17132104	+	ENSG00000235478.4	lincRNA	-	22q11.1	long intergenic non-protein coding RNA 1664	-
LINC01672	chr1	6724637	6730012	+	ENSG00000228750.6	lincRNA	NMR	1p36.31	long intergenic non-protein coding RNA 1672	Low expression observed in reference dataset
LINC01698	chr1	209367662	209379690	+	ENSG00000231648.1	lincRNA	-	1q32.2	long intergenic non-protein coding RNA 1698	-
LINC01700	chr21	38974429	38977774	-	ENSG00000232837.1	lincRNA	-	21q22.2	long intergenic non-protein coding RNA 1700	-
LINC01713	chr20	6731258	6736136	-	ENSG00000228482.1	lincRNA	-	20p12.3	long intergenic non-protein coding RNA 1713	-
LINC01714	chr1	8202429	8215210	+	ENSG00000227634.2	lincRNA	-	1p36.23	long intergenic non-protein coding RNA 1714	-
LINC01733	chr20	25955812	25969288	+	ENSG00000226203.1	lincRNA	-	20p11.1	long intergenic non-protein coding RNA 1733	-
LINC01738	chr1	47688463	47703383	+	ENSG00000227947.1	lincRNA	-	1p33	long intergenic non-protein coding RNA 1738	-
LINC01740	chr1	212545694	212556065	+	ENSG00000228067.1	lincRNA	-	1q32.3	long intergenic non-protein coding RNA 1740	-
LINC01746	chr20	37571103	37583935	+	ENSG00000274469.1	lincRNA	-	20q11.23	long intergenic non-protein coding RNA 1746	-
LINC01749	chr20	63009383	63085071	+	ENSG00000272259.5	lincRNA	-	20q13.33	long intergenic non-protein coding RNA 1749	-
LINC01752	chr20	10753090	10753966	+	ENSG00000224961.1	lincRNA	-	20p12.2	long intergenic non-protein coding RNA 1752	-
LINC01763	chr1	90851759	90855253	+	ENSG00000225446.2	lincRNA	-	1p22.2	long intergenic non-protein coding RNA 1763	-
LINC01770	chr1	1430539	1434573	-	ENSG00000225285.1	lincRNA	-	1p36.33	long intergenic non-protein coding RNA 1770	-
LINC01782	chr19	32102088	32105916	-	ENSG00000267204.1	lincRNA	-	19q13.11	long intergenic non-protein coding RNA 1782	-
LINC01783	chr1	16533886	16536172	-	ENSG00000233421.4	lincRNA	-	1p36.13	long intergenic non-protein coding RNA 1783	-
LINC01795	chr2	58275877	58296548	+	ENSG00000225226.1	lincRNA	-	2p16.1	long intergenic non-protein coding RNA 1795	-
LINC01796	chr2	102873339	102895722	-	ENSG00000277527.1	lincRNA	-	2q12.1	long intergenic non-protein coding RNA 1796	-
LINC01799	chr2	66904436	66971462	+	ENSG00000230525.5	lincRNA	-	2p14	long intergenic non-protein coding RNA 1799	-
LINC01806	chr2	161244739	161249050	+	ENSG00000227403.1	lincRNA	-	2q24.2	long intergenic non-protein coding RNA 1806	-
LINC01814	chr2	8559833	8583792	-	ENSG00000236008.1	lincRNA	-	2p25.1	long intergenic non-protein coding RNA 1814	-
LINC01816	chr2	70124036	70125317	-	ENSG00000231327.1	lincRNA	-	2p13.3	long intergenic non-protein coding RNA 1816	-
LINC01829	chr2	67123357	67215319	-	ENSG00000236780.5	lincRNA	-	2p14	long intergenic non-protein coding RNA 1829	-
LINC01841	chr19	14305458	14370196	-	ENSG00000266913.1	lincRNA	-	19p13.12	long intergenic non-protein coding RNA 1841	-
LINC01843	chr5	134506552	134509229	+	ENSG00000251169.2	lincRNA	-	5q31.1	long intergenic non-protein coding RNA 1843	-
LINC01852	chr15	38069481	38072959	-	ENSG00000236914.3	lincRNA	-	15q14	long intergenic non-protein coding RNA 1852	-
LINC01876	chr2	156011530	156254950	-	ENSG00000226383.6	lincRNA	-	2q24.1	long intergenic non-protein coding RNA 1876	-
LINC01882	chr18	12739490	12749421	-	ENSG00000267654.1	lincRNA	-	18p11.21	long intergenic non-protein coding RNA 1882	-
LINC01915	chr18	24628182	24662198	+	ENSG00000265485.5	lincRNA	-	18q11.2	long intergenic non-protein coding RNA 1915	-
LINC01929	chr18	55105904	55124306	-	ENSG00000267013.5	lincRNA	-	18q21.2	long intergenic non-protein coding RNA 1929	-
LINC01932	chr5	159227715	159245127	+	ENSG00000253315.1	lincRNA	-	5q33.3	long intergenic non-protein coding RNA 1932	-
LINC01933	chr5	151949571	152270448	+	ENSG00000254226.5	lincRNA	CTB-12O2.1	5q33.1	long intergenic non-protein coding RNA 1933	Low expression observed in reference dataset
LINC01934	chr2	181101932	181399559	+	ENSG00000234663.5	lincRNA	-	2q31.3	long intergenic non-protein coding RNA 1934	-
LINC01937	chr2	238720324	238740780	+	ENSG00000234279.1	lincRNA	-	2q37.3	long intergenic non-protein coding RNA 1937	-
LINC01960	chr2	174025280	174027163	+	ENSG00000260868.1	lincRNA	-	2q31.1	long intergenic non-protein coding RNA 1960	-
LINC01972	chr3	194765238	194768712	-	ENSG00000230401.1	lincRNA	-	3q29	long intergenic non-protein coding RNA 1972	-
LINC01974	chr17	46909742	46911512	-	ENSG00000262031.1	lincRNA	-	17q21.32	long intergenic non-protein coding RNA 1974	-
LINC01977	chr17	79823452	79827704	+	ENSG00000262772.1	lincRNA	-	17q25.3	long intergenic non-protein coding RNA 1977	-
LINC01990	chr3	107430930	107463912	+	ENSG00000273125.1	lincRNA	-	3q13.12	long intergenic non-protein coding RNA 1990	-
LINC01993	chr17	78261349	78278492	-	ENSG00000204277.1	lincRNA	-	17q25.3	long intergenic non-protein coding RNA 1993	-
LINC02000	chr3	134055256	134057648	-	ENSG00000243832.1	lincRNA	-	3q22.2	long intergenic non-protein coding RNA 2000	-
LINC02004	chr3	134313576	134321171	+	ENSG00000240006.1	lincRNA	-	3q22.2	long intergenic non-protein coding RNA 2004	-
LINC02009	chr3	46416524	46423591	-	ENSG00000283646.1	lincRNA	-	3p21.31	long intergenic non-protein coding RNA 2009	-
LINC02015	chr3	177816865	177899224	+	ENSG00000231574.5	lincRNA	KCCAT211	3q26.32	long intergenic non-protein coding RNA 2015	Biased expression in liver (RPKM 2.1), kidney (RPKM 0.3) and 2 other tissues
LINC02016	chr3	127322307	127390670	-	ENSG00000244215.1	lincRNA	-	3q21.3	long intergenic non-protein coding RNA 2016	-
LINC02019	chr3	50669989	50672048	+	ENSG00000273356.1	lincRNA	-	3p21.2	long intergenic non-protein coding RNA 2019	-
LINC02029	chr3	157081841	157088547	+	ENSG00000241544.1	lincRNA	-	3q25.31	long intergenic non-protein coding RNA 2029	-
LINC02032	chr3	148078159	148088029	+	ENSG00000241131.1	lincRNA	-	3q24	long intergenic non-protein coding RNA 2032	-
LINC02033	chr3	36819276	36822498	-	ENSG00000279727.1	lincRNA	-	3p22.2	long intergenic non-protein coding RNA 2033	-
LINC02040	chr3	65174958	65193499	+	ENSG00000243149.1	lincRNA	-	3p14.1	long intergenic non-protein coding RNA 2040	-
LINC02043	chr3	186810880	186825521	-	ENSG00000232233.1	lincRNA	-	3q27.3	long intergenic non-protein coding RNA 2043	-
LINC02044	chr3	113142350	113167819	-	ENSG00000243795.1	lincRNA	-	3q13.2	long intergenic non-protein coding RNA 2044	-
LINC02045	chr3	148195729	148280098	-	ENSG00000243347.1	lincRNA	-	3q24	long intergenic non-protein coding RNA 2045	-
LINC02050	chr3	80764897	80789354	+	ENSG00000242781.1	lincRNA	-	3p12.2	long intergenic non-protein coding RNA 2050	-
LINC02056	chr5	72574120	72660669	-	ENSG00000248371.5	lincRNA	-	5q13.2	long intergenic non-protein coding RNA 2056	-
LINC02057	chr5	61201309	61264929	-	ENSG00000249279.5	lincRNA	-	5q12.1	long intergenic non-protein coding RNA 2057	-
LINC02060	chr5	88408982	88439090	-	ENSG00000250156.3	lincRNA	-	5q14.3	long intergenic non-protein coding RNA 2060	-
LINC02067	chr3	161426427	161448242	+	ENSG00000240567.1	lincRNA	-	3q26.1	long intergenic non-protein coding RNA 2067	-
LINC02068	chr3	172560888	172595607	-	ENSG00000223387.6	lincRNA	-	3q26.31	long intergenic non-protein coding RNA 2068	-
LINC02070	chr3	86481943	86496996	+	ENSG00000241328.1	lincRNA	-	3p12.1	long intergenic non-protein coding RNA 2070	-
LINC02076	chr17	18411159	18414380	+	ENSG00000220161.4	lincRNA	-	17p11.2	long intergenic non-protein coding RNA 2076	-
LINC02086	chr17	48646923	48707346	+	ENSG00000244649.4	lincRNA	-	17q21.32	long intergenic non-protein coding RNA 2086	-
LINC02094	chr17	19419035	19424357	+	ENSG00000227078.1	lincRNA	-	17p11.2	long intergenic non-protein coding RNA 2094	-
LINC02102	chr5	6686325	6707711	-	ENSG00000248677.1	lincRNA	-	5p15.31	long intergenic non-protein coding RNA 2102	-
LINC02128	chr16	50884209	50901061	+	ENSG00000261241.5	lincRNA	LINC02187	16q12.1	long intergenic non-protein coding RNA 2128	-
LINC02132	chr16	85935281	85936223	-	ENSG00000268804.1	lincRNA	-	16q24.1	long intergenic non-protein coding RNA 2132	-
LINC02152	chr16	8298492	8299772	+	ENSG00000261319.1	lincRNA	-	16p13.2	long intergenic non-protein coding RNA 2152	-
LINC02157	chr15	96235785	96236703	+	ENSG00000259763.1	lincRNA	-	15q26.2	long intergenic non-protein coding RNA 2157	-
LINC02160	chr5	33229735	33255553	+	ENSG00000251443.1	lincRNA	-	5p13.3	long intergenic non-protein coding RNA 2160	-
LINC02166	chr16	89682620	89686569	-	ENSG00000260259.1	lincRNA	-	16q24.3	long intergenic non-protein coding RNA 2166	-
LINC02181	chr16	87057784	87063991	+	ENSG00000232190.2	lincRNA	-	16q24.2	long intergenic non-protein coding RNA 2181	-
LINC02193	chr16	90173217	90222678	+	ENSG00000260923.6	lincRNA	-	16q24.3	long intergenic non-protein coding RNA 2193	-
LINC02201	chr5	122628952	122730685	-	ENSG00000251538.5	lincRNA	-	5q23.2	long intergenic non-protein coding RNA 2201	-
LINC02202	chr5	159100483	159117478	+	ENSG00000245812.2	lincRNA	-	5q33.3	long intergenic non-protein coding RNA 2202	-
LINC02210	chr17	45620328	45655156	+	ENSG00000204650.14	transcribed_unitary_pseudogene	C17orf69|CRHR1-IT1	17q21.31	long intergenic non-protein coding RNA 2210	Ubiquitous expression in skin (RPKM 2.2), brain (RPKM 2.1) and 23 other tissues
LINC02210-CRHR1	chr17	45620344	45835826	+	ENSG00000263715.7	protein_coding	CRHR1-IT1-CRHR1|MGC57346-CRHR1	17q21.31	LINC02210-CRHR1 readthrough	This locus represents naturally occurring readthrough transcription between neighboring genes CRHR1-IT1, CRHR1 intronic transcript 1 (Gene ID: 147081) and CRHR1, corticotropin releasing hormone receptor 1 (Gene ID: 1394) on chromosome 17. The readthrough transcript encodes a protein that shares sequence identity with the product of the CRHR1 gene. [provided by RefSeq, Dec 2016]
LINC02274	chr14	 73822559	73830135	-	ENSG00000258586	ncRNA	-	14q24.3	long intergenic non-protein coding RNA 2274	-
LINC02425	chr12	 66027725	66031066	-	ENSG00000256259	ncRNA	-	12q14.3	long intergenic non-protein coding RNA 2425	-
LINC02454	chr12	 65602869	65612987	+	-	ncRNA	-	12q14.3	long intergenic non-protein coding RNA 2454	-
LINC02456	chr12	 102279574	102711995	+	-	ncRNA	-	12q23.2	long intergenic non-protein coding RNA 2456	-
LINC02569	chr6	 30516266	30519580	+	-	ncRNA	TCONS_00011283	6p21.33	long intergenic non-protein coding RNA 2569	-
LINC02585	chr3	 48663768	48669174	+	ENSG00000228350	ncRNA	CELSR3-AS1	3p21.31	long intergenic non-protein coding RNA 2585	Biased expression in testis (RPKM 1.6), fat (RPKM 0.1) and 7 other tissues
LINC02587	chr7	 15688378	15696892	+	-	ncRNA	MEOX2-AS1	7p21.2	long intergenic non-protein coding RNA 2587	Biased expression in fat (RPKM 8.3), placenta (RPKM 3.5) and 2 other tissues
LINC02603	chr9	 94176569	94259311	-	ENSG00000230262	ncRNA	MIRLET7DHG	9q22.32	long intergenic non-protein coding RNA 2603	Ubiquitous expression in lung (RPKM 2.7), skin (RPKM 2.6) and 24 other tissues
LINC02652	chr10	 28433008	28495813	-	ENSG00000237128	ncRNA	-	10p12.1	long intergenic non-protein coding RNA 2652	-
LINC02691	chr14	 104223584	104288069	+	ENSG00000258913	ncRNA	C14orf144	14q32.33	long intergenic non-protein coding RNA 2691	-
LINC02692	chr9	 136969412	136972884	+	-	ncRNA	C9orf141|PRR31	9q34.3	long intergenic non-protein coding RNA 2692	-
LINC02693	chr17	 21528310	21551678	-	ENSG00000212719	ncRNA	C17orf51	17p11.2	long intergenic non-protein coding RNA 2693	Broad expression in brain (RPKM 7.0), testis (RPKM 3.7) and 24 other tissues
LINC02716	chr11	 45771432	45772358	+	-	ncRNA	DKFZp779M0652	11p11.2	long intergenic non-protein coding RNA 2716	Biased expression in fat (RPKM 1.5), liver (RPKM 0.9) and 12 other tissues
LINC02794	chr1	 48049771	48181386	+	-	ncRNA	-	1p33	long intergenic non-protein coding RNA 2794	-
LINC02860	chr7	 26637871	26647272	+	ENSG00000222004	ncRNA	C7orf71	7p15.2	long intergenic non-protein coding RNA 2860	Low expression observed in reference dataset
LINC02869	chr1	 218510095	218525978	+	ENSG00000228208	ncRNA	C1orf143	1q41	long intergenic non-protein coding RNA 2869	-
LINC02870	chr10	 132445189	132448306	+	-	ncRNA	C10orf91	10q26.3	long intergenic non-protein coding RNA 2870	-
LINC02871	chr20	 11026544	11029366	+	-	ncRNA	C20orf187	20p12.2	long intergenic non-protein coding RNA 2871	-
LINC02872	chr9	 87148644	87159726	+	ENSG00000204446	ncRNA	C9orf170	9q21.33	long intergenic non-protein coding RNA 2872	-
LINC02875	chr17	 61411751	61413280	+	ENSG00000187013	ncRNA	C17orf82	17q23.2	long intergenic non-protein coding RNA 2875	-
LINC02881	chr10	 44292750	44294649	+	ENSG00000277288	ncRNA	C10orf142	10q11.21	long intergenic non-protein coding RNA 2881	-
LINC02898	chr2	 41935368	41953806	-	ENSG00000205086	ncRNA	C2orf91	2p21	long intergenic non-protein coding RNA 2898	-
LINC02904	chr8	 143039209	143054303	+	ENSG00000177335	ncRNA	C8orf31	8q24.3	long intergenic non-protein coding RNA 2904	-
LINC02905	chr8	 11761256	11763224	+	-	ncRNA	C8orf49|G4DM	8p23.1	long intergenic non-protein coding RNA 2905	-
LINC02907	chr9	 135343249	135346562	+	ENSG00000178243	ncRNA	C9orf62	9q34.3	long intergenic non-protein coding RNA 2907	-
LINC02908	chr9	 137027464	137037955	+	ENSG00000180539	ncRNA	C9orf139	9q34.3	long intergenic non-protein coding RNA 2908	-
LINC02909	chr12	 24993424	24997465	-	ENSG00000226397	ncRNA	C12orf77	12p12.1	long intergenic non-protein coding RNA 2909	-
LINC02910	chr20	 60055925	60072953	+	ENSG00000176659	ncRNA	C20orf197	20q13.33	long intergenic non-protein coding RNA 2910	-
LINC02911	chr16	 52005487	52078517	-	-	ncRNA	C16orf97	16q12.1	long intergenic non-protein coding RNA 2911	-
LINC02912	chr8	 127946559	127948723	-	ENSG00000280055	ncRNA	TMEM75	8q24.21	long intergenic non-protein coding RNA 2912	-
LINCR-0001	chr8	10474565	10481974	+	ENSG00000253641.5	lincRNA	-	8p23.1	uncharacterized LINCR-0001	Biased expression in testis (RPKM 3.0), brain (RPKM 1.0) and 9 other tissues
LINGO1	chr15	77613027	77820900	-	ENSG00000169783.12	protein_coding	LERN1|LRRN6A|MRT64|UNQ201	15q24.3	leucine rich repeat and Ig domain containing 1	Biased expression in brain (RPKM 24.2), placenta (RPKM 1.9) and 3 other tissues
LINGO1-AS1	chr15	77641764	77652288	+	ENSG00000259666.2	antisense	-	15q24.3	LINGO1 antisense RNA 1	-
LINGO2	chr9	27948078	28670286	-	ENSG00000174482.10	protein_coding	LERN3|LRRN6C	9p21.2-p21.1	leucine rich repeat and Ig domain containing 2	Low expression observed in reference dataset
LINGO3	chr19	2289784	2292024	-	ENSG00000220008.3	protein_coding	LERN2|LRRN6B	19p13.3	leucine rich repeat and Ig domain containing 3	Biased expression in spleen (RPKM 1.7), brain (RPKM 0.7) and 7 other tissues
LINGO4	chr1	151800264	151806154	-	ENSG00000213171.2	protein_coding	DAAT9248|LRRN6D|PRO34002	1q21.3	leucine rich repeat and Ig domain containing 4	Broad expression in adrenal (RPKM 1.2), testis (RPKM 0.4) and 16 other tissues
LINS1	chr15	100559369	100603230	-	ENSG00000140471.16	protein_coding	LINS|MRT27|WINS1	15q26.3	lines homolog 1	The Drosophila segment polarity gene lin encodes a protein, lines, which plays important roles in development of the epidermis and hindgut. This gene encodes a protein containing a lines-like domain. This gene is located on chromosome 15 and clustered with the gene encoding ankyrin repeat and SOCS box-containing protein 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017]
LIPA	chr10	89213569	89414557	-	ENSG00000107798.17	protein_coding	CESD|LAL	10q23.31	lipase A, lysosomal acid type	This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
LIPC	chr15	58410569	58569843	+	ENSG00000166035.10	protein_coding	HDLCQ12|HL|HTGL|LIPH	15q21.3	lipase C, hepatic type	LIPC encodes hepatic triglyceride lipase, which is expressed in liver. LIPC has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. [provided by RefSeq, Jul 2008]
LIPC-AS1	chr15	58434890	58498735	-	ENSG00000259293.1	antisense	-	15q21.3	LIPC antisense RNA 1	-
LIPE	chr19	42401507	42427426	-	ENSG00000079435.9	protein_coding	AOMS4|FPLD6|HSL|LHS|REH	19q13.2	lipase E, hormone sensitive type	The protein encoded by this gene has a long and a short form, generated by use of alternative translational start codons. The long form is expressed in steroidogenic tissues such as testis, where it converts cholesteryl esters to free cholesterol for steroid hormone production. The short form is expressed in adipose tissue, among others, where it hydrolyzes stored triglycerides to free fatty acids. [provided by RefSeq, Jul 2008]
LIPE-AS1	chr19	42397128	42652355	+	ENSG00000213904.8	antisense	-	19q13.2	LIPE antisense RNA 1	-
LIPF	chr10	88664441	88678814	+	ENSG00000182333.14	protein_coding	GL|HGL|HLAL	10q23.31	lipase F, gastric type	This gene encodes gastric lipase, an enzyme involved in the digestion of dietary triglycerides in the gastrointestinal tract, and responsible for 30% of fat digestion processes occurring in human. It is secreted by gastric chief cells in the fundic mucosa of the stomach, and it hydrolyzes the ester bonds of triglycerides under acidic pH conditions. The gene is a member of a conserved gene family of lipases that play distinct roles in neutral lipid metabolism. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
LIPG	chr18	49560699	49599182	+	ENSG00000101670.11	protein_coding	EDL|EL|PRO719	18q21.1	lipase G, endothelial type	The protein encoded by this gene has substantial phospholipase activity and may be involved in lipoprotein metabolism and vascular biology. This protein is designated a member of the TG lipase family by its sequence and characteristic lid region which provides substrate specificity for enzymes of the TG lipase family. [provided by RefSeq, Jul 2008]
LIPH	chr3	185506262	185552613	-	ENSG00000163898.9	protein_coding	AH|ARWH2|HYPT7|LAH2|LPDLR|PLA1B|mPA-PLA1	3q27.2	lipase H	This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. [provided by RefSeq, Jul 2008]
LIPJ	chr10	88586753	88606976	+	ENSG00000204022.9	protein_coding	LIPL1|bA425M17.2	10q23.31	lipase family member J	Predicted to enable hydrolase activity, acting on ester bonds. Predicted to be involved in lipid catabolic process. Predicted to be active in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2022]
LIPT1	chr2	99154955	99163157	+	ENSG00000144182.16	protein_coding	LIPT1D	2q11.2	lipoyltransferase 1	The process of transferring lipoic acid to proteins is a two-step process. The first step is the activation of lipoic acid by lipoate-activating enzyme to form lipoyl-AMP. For the second step, the protein encoded by this gene transfers the lipoyl moiety to apoproteins. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 13. Read-through transcription also exists between this gene and the neighboring downstream mitochondrial ribosomal protein L30 (MRPL30) gene. [provided by RefSeq, Mar 2011]
LIPT2	chr11	74491712	74493733	-	ENSG00000175536.6	protein_coding	-	11q13.4	lipoyl(octanoyl) transferase 2	Ubiquitous expression in testis (RPKM 2.4), kidney (RPKM 2.2) and 25 other tissues
LITAF	chr16	11547722	11636381	-	ENSG00000189067.12	protein_coding	PIG7|SIMPLE|TP53I7	16p13.13	lipopolysaccharide induced TNF factor	Lipopolysaccharide is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha (TNF-alpha) and other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha factor, which is a DNA-binding protein and can mediate the TNF-alpha expression by direct binding to the promoter region of the TNF-alpha gene. The transcription of this gene is induced by tumor suppressor p53 and has been implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C (CMT1C) and may be involved in the carcinogenesis of extramammary Pagets disease (EMPD). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014]
LIX1	chr5	97091867	97142872	-	ENSG00000145721.11	protein_coding	C5orf11|Lft	5q15	limb and CNS expressed 1	Biased expression in brain (RPKM 14.2), thyroid (RPKM 2.1) and 1 other tissue
LIX1L	chr1	145933423	145958001	-	ENSG00000271601.3	protein_coding	-	1q21.1	limb and CNS expressed 1 like	-
LKAAEAR1	chr20	64083380	64084359	-	ENSG00000171695.10	protein_coding	C20orf201	20q13.33	LKAAEAR motif containing 1	Low expression observed in reference dataset
LL09NC01-139C3.1	chr9	134168769	134169340	+	ENSG00000273473.1	lincRNA	-	-	-	-
LL09NC01-251B2.3	chr9	134132242	134135772	-	ENSG00000273249.1	antisense	-	-	-	-
LL22NC03-2H8.4	chr22	22293733	22294794	+	ENSG00000234630.1	lincRNA	-	-	-	-
LL22NC03-2H8.5	chr22	22283928	22287220	-	ENSG00000274422.1	lincRNA	-	-	-	-
LL22NC03-80A10.6	chr22	22303224	22310401	+	ENSG00000272779.1	unprocessed_pseudogene	-	-	-	-
LL22NC03-86G7.1	chr22	21938293	21977632	+	ENSG00000224086.5	antisense	-	-	-	-
LLGL1	chr17	18225587	18244875	+	ENSG00000131899.10	protein_coding	DLG4|HUGL|HUGL-1|HUGL1|LLGL|Lgl1|Mgl1	17p11.2	LLGL scribble cell polarity complex component 1	This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
LLGL2	chr17	75525080	75575208	+	ENSG00000073350.13	protein_coding	HGL|Hugl-2|LGL2	17q25.1	LLGL scribble cell polarity complex component 2	The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant larvae of Drosophila. In fly, the proteins ability to localize cell fate determinants is regulated by the atypical protein kinase C (aPKC). In human, this protein interacts with aPKC-containing complexes and is cortically localized in mitotic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
LLNLF-187D8.1	chr19	46424697	46428951	-	ENSG00000277531.2	protein_coding	-	-	-	-
LLNLR-271C9.1	chr19	43690002	43700508	+	ENSG00000283525.1	transcribed_unprocessed_pseudogene	-	-	-	-
LLNLR-470E3.1	chr19	51639478	51639931	-	ENSG00000273837.1	sense_intronic	-	-	-	-
LLPH	chr12	66116555	66130768	-	ENSG00000139233.6	protein_coding	C12orf31|hLLP	12q14.3	LLP homolog, long-term synaptic facilitation factor	Ubiquitous expression in adrenal (RPKM 19.2), bone marrow (RPKM 19.1) and 25 other tissues
LLPH-DT	chr12	 66130751	66134449	+	ENSG00000239335	ncRNA	LLPH-AS1	12q14.3	LLPH divergent transcript	Low expression observed in reference dataset
LMAN1	chr18	59327823	59359962	-	ENSG00000074695.5	protein_coding	ERGIC-53|ERGIC53|F5F8D|FMFD1|MCFD1|MR60|gp58	18q21.32	lectin, mannose binding 1	The protein encoded by this gene is a membrane mannose-specific lectin that cycles between the endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment, and cis-Golgi, functioning as a cargo receptor for glycoprotein transport. The protein has an N-terminal signal sequence, a calcium-dependent and pH-sensitive carbohydrate recognition domain, a stalk region that functions in oligomerization, a transmembrane domain, and a short cytoplasmic domain required for organelle targeting. Allelic variants of this gene are associated with the autosomal recessive disorder combined factor V-factor VIII deficiency. [provided by RefSeq, Jul 2015]
LMAN1L	chr15	74812716	74825758	+	ENSG00000140506.16	protein_coding	ERGIC-53L|ERGL	15q24.1	lectin, mannose binding 1 like	This gene encodes a mannose-binding type 1 transmembrane protein that contains an N-terminal lectin-like carbohydrate recognition domain. The encoded protein is similar in structure to lectins found in leguminous plants. This lectin is thought to transport newly synthesized glycoproteins from the endoplasmic reticulum (ER) to the ER-Golgi intermediate compartment. [provided by RefSeq, Jan 2017]
LMAN2	chr5	177331562	177351852	-	ENSG00000169223.14	protein_coding	C5orf8|GP36B|VIP36	5q35.3	lectin, mannose binding 2	This gene encodes a type I transmembrane lectin that shuttles between the endoplasmic reticulum, the Golgi apparatus and the plasma membrane. The encoded protein binds high mannose type glycoproteins and may facilitate their sorting, trafficking and quality control. [provided by RefSeq, Oct 2008]
LMAN2L	chr2	96705929	96740064	-	ENSG00000114988.11	protein_coding	MRT52|VIPL	2q11.2	lectin, mannose binding 2 like	This gene encodes a protein belonging to the L-type lectin group of type 1 membrane proteins, which function in the mammalian early secretory pathway. These proteins contain luminal carbohydrate recognition domains, which display homology to leguminous lectins. Unlike other proteins of the group, which cycle in the early secretory pathway and are predominantly associated with post endoplasmic reticulum membranes, the protein encoded by this gene is a non-cycling resident protein of the ER, where it functions as a cargo receptor for glycoproteins. It is proposed to regulate exchange of folded proteins for transport to the Golgi and exchange of misfolded glycoproteins for transport to the ubiquitin-proteasome pathway. [provided by RefSeq, Apr 2016]
LMBR1	chr7	156668946	156893230	-	ENSG00000105983.20	protein_coding	ACHP|C7orf2|DIF14|LSS|PPD2|THYP|TPT|ZRS	7q36.3	limb development membrane protein 1	This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. [provided by RefSeq, Jul 2008]
LMBR1L	chr12	49096551	49110900	-	ENSG00000139636.15	protein_coding	LIMR	12q13.12	limb development membrane protein 1 like	Broad expression in testis (RPKM 15.2), endometrium (RPKM 7.0) and 24 other tissues
LMBRD1	chr6	69675802	69797111	-	ENSG00000168216.10	protein_coding	C6orf209|LMBD1|MAHCF|NESI	6q13	LMBR1 domain containing 1	This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gene are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.[provided by RefSeq, Oct 2009]
LMBRD2	chr5	36098412	36151961	-	ENSG00000164187.6	protein_coding	-	5p13.2	LMBR1 domain containing 2	-
LMCD1	chr3	8501707	8574673	+	ENSG00000071282.11	protein_coding	-	3p25.3	LIM and cysteine rich domains 1	Broad expression in lung (RPKM 21.9), fat (RPKM 21.1) and 24 other tissues
LMCD1-AS1	chr3	7952805	8611924	-	ENSG00000227110.6	antisense	-	3p25.3	LMCD1 antisense RNA 1	-
LMF1	chr16	853634	981318	-	ENSG00000103227.18	protein_coding	C16orf26|HMFN1876|JFP11|TMEM112|TMEM112A	16p13.3	lipase maturation factor 1	Broad expression in brain (RPKM 6.7), salivary gland (RPKM 2.6) and 25 other tissues
LMF1-AS1	chr16	921033	934495	+	ENSG00000260439.1	antisense	LA16c-366D3.1	16p13.3	LMF1 antisense RNA 1	Broad expression in placenta (RPKM 1.1), spleen (RPKM 0.7) and 21 other tissues
LMF2	chr22	50502949	50507691	-	ENSG00000100258.17	protein_coding	TMEM112B|TMEM153	22q13.33	lipase maturation factor 2	Ubiquitous expression in pancreas (RPKM 20.5), spleen (RPKM 16.6) and 25 other tissues
LMLN	chr3	197960200	198043720	+	ENSG00000185621.11	protein_coding	GP63|INV|IX14|LMNL1|MSP	3q29	leishmanolysin like peptidase	This gene encodes a zinc-metallopeptidase. The encoded protein may play a role in cell migration and invasion. Studies of a similar protein in Drosophila indicate a potential role in mitotic progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
LMNA	chr1	156082573	156140089	+	ENSG00000160789.19	protein_coding	CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1	1q22	lamin A/C	The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
LMNB2	chr19	2427638	2456996	-	ENSG00000176619.12	protein_coding	EPM9|LAMB2|LMN2|MCPH27	19p13.3	lamin B2	This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012]
LMNTD2	chr11	554855	560779	-	ENSG00000185522.8	protein_coding	C11orf35	11p15.5	lamin tail domain containing 2	Broad expression in testis (RPKM 5.4), lung (RPKM 3.1) and 22 other tissues
LMO2	chr11	33858576	33892289	-	ENSG00000135363.11	protein_coding	LMO-2|RBTN2|RBTNL1|RHOM2|TTG2	11p13	LIM domain only 2	LMO2 encodes a cysteine-rich, two LIM-domain protein that is required for yolk sac erythropoiesis. The LMO2 protein has a central and crucial role in hematopoietic development and is highly conserved. The LMO2 transcription start site is located approximately 25 kb downstream from the 11p13 T-cell translocation cluster (11p13 ttc), where a number T-cell acute lymphoblastic leukemia-specific translocations occur. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Nov 2008]
LMO3	chr12	16548373	16610594	-	ENSG00000048540.14	protein_coding	RBTN3|RBTNL2|RHOM3|Rhom-3	12p12.3	LIM domain only 3	The protein encoded by this gene belongs to the rhombotin family of cysteine-rich LIM domain oncogenes. This gene is predominantly expressed in the brain. Related family members, LMO1 and LMO2 on chromosome 11, have been reported to be involved in chromosomal translocations in T-cell leukemia. Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
LMO4	chr1	87328468	87348923	+	ENSG00000143013.12	protein_coding	-	1p22.3	LIM domain only 4	Ubiquitous expression in brain (RPKM 22.8), stomach (RPKM 12.3) and 24 other tissues
LMO7	chr13	75620434	75859870	+	ENSG00000136153.19	protein_coding	FBX20|FBXO20|LMO7b|LOMP	13q22.2	LIM domain 7	This gene encodes a protein containing a calponin homology (CH) domain, a PDZ domain, and a LIM domain, and may be involved in protein-protein interactions. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, however, the full-length nature of some variants is not known. [provided by RefSeq, Jan 2009]
LMO7-AS1	chr13	75604700	75635994	-	ENSG00000261105.5	antisense	UCHL3-AS1	13q22.2	LMO7 antisense RNA 1	Ubiquitous expression in thyroid (RPKM 3.9), testis (RPKM 2.4) and 25 other tissues
LMOD1	chr1	201896452	201946588	-	ENSG00000163431.12	protein_coding	1D|64kD|D1|MMIHS3|SM-LMOD|SMLMOD	1q32.1	leiomodin 1	 The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks.  The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves disease and thyroid-associated ophthalmopathy. [provided by RefSeq, Jul 2008]
LMOD3	chr3	69106872	69123032	-	ENSG00000163380.15	protein_coding	NEM10	3p14.1	leiomodin 3	The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often present with a severe congenital form of the disorder. [provided by RefSeq, Jan 2015]
LMTK2	chr7	98106885	98209633	+	ENSG00000164715.5	protein_coding	AATYK2|BREK|KPI-2|KPI2|LMR2|PPP1R100|cprk|hBREK	7q21.3	lemur tyrosine kinase 2	The protein encoded by this gene belongs to the protein kinase superfamily and the protein tyrosine kinase family. It contains N-terminal transmembrane helices and a long C-terminal cytoplasmic tail with serine/threonine/tyrosine kinase activity. This protein interacts with several other proteins, such as Inhibitor-2 (Inh2), protein phosphatase-1 (PP1C), p35, and myosin VI. It phosporylates other proteins, and is itself also phosporylated when interacting with cyclin-dependent kinase 5 (cdk5)/p35 complex. This protein involves in nerve growth factor (NGF)-TrkA signalling, and also plays a critical role in endosomal membrane trafficking. Mouse studies suggested an essential role of this protein in spermatogenesis. [provided by RefSeq, Oct 2009]
LMTK3	chr19	48485271	48513189	-	ENSG00000142235.8	protein_coding	LMR3|PPP1R101|TYKLM3	19q13.33	lemur tyrosine kinase 3	Biased expression in brain (RPKM 7.4), duodenum (RPKM 0.9) and 5 other tissues
LMX1B	chr9	126614443	126701032	+	ENSG00000136944.17	protein_coding	FSGS10|LMX1.2|NPS1	9q33.3	LIM homeobox transcription factor 1 beta	This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
LNCAROD	chr10	 52450877	52470533	-	ENSG00000231131	ncRNA	A-ROD|LINC01468|lnc-MBL2-4	10q21.1	lncRNA activating regulator of DKK1	Low expression observed in reference dataset
LNCSRLR	chr3	146066344	146069185	-	ENSG00000240032.1	antisense	lncRNA-SRLR	3q24	lncRNA sorafenib resistance in renal cell carcinoma associated	-
LNCTAM34A	chr1	 9182204	9192086	+	ENSG00000234546	ncRNA	GUARDIN|LINC01759	1p36.22	long non coding transcriptional activator of miR34a	Broad expression in testis (RPKM 1.1), urinary bladder (RPKM 1.0) and 24 other tissues
LNP1	chr3	100401193	100456319	+	ENSG00000206535.7	protein_coding	NP3	3q12.2	leukemia NUP98 fusion partner 1	Broad expression in testis (RPKM 17.5), kidney (RPKM 4.6) and 20 other tissues
LNPEP	chr5	96935394	97037515	+	ENSG00000113441.15	protein_coding	CAP|IRAP|P-LAP|PLAP	5q15	leucyl and cystinyl aminopeptidase	This gene encodes a zinc-dependent aminopeptidase that cleaves vasopressin, oxytocin, lys-bradykinin, met-enkephalin, dynorphin A and other peptide hormones. The protein can be secreted in maternal serum, reside in intracellular vesicles with the insulin-responsive glucose transporter GLUT4, or form a type II integral membrane glycoprotein. The protein catalyzes the final step in the conversion of angiotensinogen to angiotensin IV (AT4) and is also a receptor for AT4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
LNPK	chr2	175923892	176002839	-	ENSG00000144320.13	protein_coding	KIAA1715|LNP|LNP1|NEDEHCC|Ul|ulnaless	2q31.1	lunapark, ER junction formation factor	Ubiquitous expression in brain (RPKM 7.2), colon (RPKM 5.9) and 24 other tissues
LNX1	chr4	53459301	53701405	-	ENSG00000072201.13	protein_coding	LNX|MPDZ|PDZRN2	4q12	ligand of numb-protein X 1	This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. [provided by RefSeq, Jul 2008]
LNX2	chr13	27545911	27620404	-	ENSG00000139517.7	protein_coding	PDZRN1	13q12.2	ligand of numb-protein X 2	Ubiquitous expression in testis (RPKM 9.5), small intestine (RPKM 7.4) and 25 other tissues
LOC100128361	chr9	 92618050	92620533	+	-	ncRNA	-	9q22.31	uncharacterized LOC100128361	-
LOC100131289	chr6	 27761744	27763187	+	-	ncRNA	-	6p22.1	uncharacterized LOC100131289	-
LOC100507221	chr16	 32264029	32280475	-	-	protein-coding	-	16p11.2	uncharacterized LOC100507221	-
LOC100507351	chr17	 77546941	77565024	+	-	ncRNA	-	17q25.3	uncharacterized LOC100507351	-
LOC100507472	chr15	 101307251	101309304	-	-	ncRNA	-	15q26.3	uncharacterized LOC100507472	-
LOC101927166	chr17	 48444833	48466040	+	-	ncRNA	-	17q21.32	uncharacterized LOC101927166	-
LOC101927911	chr17	 2962247	2965895	-	ENSG00000262884	ncRNA	-	17p13.3	uncharacterized LOC101927911	-
LOC101929440	chr16	 1408431	1412251	+	-	ncRNA	LA16c-312E8.2	16p13.3	uncharacterized LOC101929440	-
LOC101929566	chr16	 2866348	2868204	-	ENSG00000263280	ncRNA	LA16c-325D7.2	16p13.3	uncharacterized LOC101929566	-
LOC102724594	chr21	 6484623	6499248	-	ENSG00000275895	protein-coding	U2AF1L5	21p12	U2 small nuclear RNA auxiliary factor 1 like 5	-
LOC105373643	chr2	 139234673	139379145	+	-	ncRNA	-	2q22.1	uncharacterized LOC105373643	-
LOC105375166	chr7	 15667947	15681980	+	ENSG00000237070	ncRNA	-	7p21.2	uncharacterized LOC105375166	-
LOC105375955	chr9	 2289100	2296903	+	-	ncRNA	-	9p24.2	uncharacterized LOC105375955	-
LOC105375974	chr9	 11253969	11502598	-	-	ncRNA	-	9p23	uncharacterized LOC105375974	-
LOC107984876	chr16	 902566	903654	-	-	protein-coding	LA16c-306A4.2	16p13.3	uncharacterized LOC107984876	-
LOC107985535	chr22	 45876080	45887726	-	ENSG00000235091	ncRNA	WI2-85898F10.1	22q13.31	uncharacterized LOC107985535	-
LOC143666	chr11	 573808	575885	-	-	ncRNA	-	11p15.5	uncharacterized LOC143666	-
LOC399900	chr11	 61967783	61968879	+	-	ncRNA	-	11q12.3	uncharacterized LOC399900	-
LOC401913	chr19	34866352	34866919	+	ENSG00000270624.1	processed_pseudogene	-	19q13.11	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) pseudogene	-
LOC440313	chr15	 100783961	100784485	-	-	ncRNA	-	15q26.3	protein enabled homolog	-
LOC440461	chr17	68198921	68199596	+	ENSG00000267472.1	processed_pseudogene	-	-	-	-
LOC441081	chr5	 70486501	70491787	+	-	pseudogene	-	5q13.2	POM121 membrane glycoprotein (rat) pseudogene	-
LOC606724	chr16	 29449345	29449915	+	-	pseudogene	-	16p11.2	coronin 1A pseudogene	-
LOH12CR2	chr12	12355406	12357067	-	ENSG00000205791.3	lincRNA	LOH2CR12	12p13.2	loss of heterozygosity on chromosome 12, region 2	Ubiquitous expression in brain (RPKM 2.2), thyroid (RPKM 1.4) and 23 other tissues
LONP1	chr19	5691834	5720572	-	ENSG00000196365.11	protein_coding	CODASS|LON|LONP|LonHS|PIM1|PRSS15|hLON	19p13.3	lon peptidase 1, mitochondrial	This gene encodes a mitochondrial matrix protein that belongs to the Lon family of ATP-dependent proteases. This protein mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides in the mitochondrial matrix. It may also have a chaperone function in the assembly of inner membrane protein complexes, and participate in the regulation of mitochondrial gene expression and maintenance of the integrity of the mitochondrial genome. Decreased expression of this gene has been noted in a patient with hereditary spastic paraplegia (PMID:18378094). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
LONRF1	chr8	12721894	12756073	-	ENSG00000154359.12	protein_coding	RNF191	8p23.1	LON peptidase N-terminal domain and ring finger 1	Ubiquitous expression in skin (RPKM 19.9), fat (RPKM 10.6) and 25 other tissues
LONRF2	chr2	100273291	100322733	-	ENSG00000170500.12	protein_coding	RNF192	2q11.2	LON peptidase N-terminal domain and ring finger 2	Biased expression in adrenal (RPKM 18.3), brain (RPKM 16.1) and 10 other tissues
LONRF3	chrX	118974614	119018355	+	ENSG00000175556.16	protein_coding	RNF127	Xq24	LON peptidase N-terminal domain and ring finger 3	The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Multiple alternatively spliced transcript variants have been suggested, but their full length natures are not clear. [provided by RefSeq, Jul 2008]
LORICRIN	chr1	 153259687	153262124	+	ENSG00000203782	protein-coding	LOR	1q21.3	loricrin cornified envelope precursor protein	-
LOX	chr5	122063195	122078360	-	ENSG00000113083.13	protein_coding	AAT10	5q23.1	lysyl oxidase	This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the mature enzyme. The copper-dependent amine oxidase activity of this enzyme functions in the crosslinking of collagens and elastin, while the propeptide may play a role in tumor suppression. In addition, defects in this gene have been linked with predisposition to thoracic aortic aneurysms and dissections. [provided by RefSeq, Jul 2016]
LOXHD1	chr18	46476972	46657033	-	ENSG00000167210.16	protein_coding	DFNB77|LH2D1	18q21.1	lipoxygenase homology PLAT domains 1	This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]
LOXL1	chr15	73925989	73952137	+	ENSG00000129038.15	protein_coding	LOL|LOXL	15q24.1	lysyl oxidase like 1	This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016]
LOXL1-AS1	chr15	73908071	73928248	-	ENSG00000261801.5	antisense	-	15q24.1	LOXL1 antisense RNA 1	-
LOXL2	chr8	23297189	23425328	-	ENSG00000134013.15	protein_coding	LOR|LOR2|WS9-14	8p21.3	lysyl oxidase like 2	This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]
LOXL4	chr10	98247690	98268250	-	ENSG00000138131.3	protein_coding	LOXC	10q24.2	lysyl oxidase like 4	This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]
LPA	chr6	160531483	160664259	-	ENSG00000198670.11	protein_coding	AK38|APOA|LP	6q25.3-q26	lipoprotein(a)	The protein encoded by this gene is a serine proteinase that inhibits the activity of tissue-type plasminogen activator I. The encoded protein constitutes a substantial portion of lipoprotein(a) and is proteolytically cleaved, resulting in fragments that attach to atherosclerotic lesions and promote thrombogenesis. Elevated plasma levels of this protein are linked to atherosclerosis. Depending on the individual, the encoded protein contains 2-43 copies of kringle-type domains. The allele represented here contains 15 copies of the kringle-type repeats and corresponds to that found in the reference genome sequence. [provided by RefSeq, Dec 2009]
LPAL2	chr6	160453428	160520269	-	ENSG00000213071.11	transcribed_unprocessed_pseudogene	APOA2|APOAL|APOARGC|apo(a)rg-C	6q25.3	lipoprotein(a) like 2, pseudogene	Apolipoprotein(a) is the distinguishing protein moiety of lipoprotein(a), of which elevated plasma levels are correlated with an increased risk of atherosclerosis. This gene is similar to the lipoprotein, Lp(a) gene, but all transcripts produced by this gene contain a truncated open reading frame and are candidates for nonsense-mediated decay. Consequently, this gene is considered to be a pseudogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
LPAR1	chr9	110873263	111038458	-	ENSG00000198121.13	protein_coding	EDG2|Gpcr26|LPA1|Mrec1.3|VZG1|edg-2|rec.1.3|vzg-1	9q31.3	lysophosphatidic acid receptor 1	The integral membrane protein encoded by this gene is a lysophosphatidic acid (LPA) receptor from a group known as EDG receptors. These receptors are members of the G protein-coupled receptor superfamily. Utilized by LPA for cell signaling, EDG receptors mediate diverse biologic functions, including proliferation, platelet aggregation, smooth muscle contraction, inhibition of neuroblastoma cell differentiation, chemotaxis, and tumor cell invasion. Many transcript variants encoding a few different isoforms have been identified for this gene. [provided by RefSeq, Oct 2020]
LPAR2	chr19	19623668	19628930	-	ENSG00000064547.13	protein_coding	EDG-4|EDG4|LPA-2|LPA2	19p13.11	lysophosphatidic acid receptor 2	This gene encodes a member of family I of the G protein-coupled receptors, as well as the EDG family of proteins. This protein functions as a lysophosphatidic acid (LPA) receptor and contributes to Ca2+ mobilization, a critical cellular response to LPA in cells, through association with Gi and Gq proteins. An alternative splice variant has been described but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]
LPAR3	chr1	84811602	84893213	-	ENSG00000171517.5	protein_coding	EDG7|Edg-7|GPCR|HOFNH30|LP-A3|LPA3|RP4-678I3	1p22.3	lysophosphatidic acid receptor 3	This gene encodes a member of the G protein-coupled receptor family, as well as the EDG family of proteins. This protein functions as a cellular receptor for lysophosphatidic acid and mediates lysophosphatidic acid-evoked calcium mobilization. This receptor couples predominantly to G(q/11) alpha proteins. [provided by RefSeq, Jul 2008]
LPAR6	chr13	48389567	48444704	-	ENSG00000139679.15	protein_coding	ARWH1|HYPT8|LAH3|LPA-6|P2RY5|P2Y5	13q14.2	lysophosphatidic acid receptor 6	The protein encoded by this gene belongs to the family of G-protein coupled receptors, that are preferentially activated by adenosine and uridine nucleotides. This gene aligns with an internal intron of the retinoblastoma susceptibility gene in the reverse orientation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]
LPCAT1	chr5	1456480	1523977	-	ENSG00000153395.9	protein_coding	AGPAT10|AGPAT9|AYTL2|LPCAT-1|PFAAP3|lpcat|lysoPAFAT	5p15.33	lysophosphatidylcholine acyltransferase 1	This gene encodes a member of the 1-acyl-sn-glycerol-3-phosphate acyltransferase family of proteins. The encoded enzyme plays a role in phospholipid metabolism, specifically in the conversion of lysophosphatidylcholine to phosphatidylcholine in the presence of acyl-CoA. This process is important in the synthesis of lung surfactant and platelet-activating factor (PAF). Elevated expression of this gene may contribute to the progression of oral squamous cell, prostate, breast, and other human cancers. [provided by RefSeq, Sep 2016]
LPCAT2	chr16	55508998	55586670	+	ENSG00000087253.12	protein_coding	AGPAT11|AYTL1|LysoPAFAT	16q12.2	lysophosphatidylcholine acyltransferase 2	This gene encodes a member of the lysophospholipid acyltransferase family. The encoded enzyme may function in two ways: to catalyze the biosynthesis of platelet-activating factor (1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine) from 1-O-alkyl-sn-glycero-3-phosphocholine, and to catalyze the synthesis of glycerophospholipid precursors from arachidonyl-CoA and lysophosphatidylcholine. The encoded protein may function in membrane biogenesis and production of platelet-activating factor in inflammatory cells. The enzyme may localize to the endoplasmic reticulum and the Golgi. [provided by RefSeq, Feb 2009]
LPCAT3	chr12	6976186	7018510	-	ENSG00000111684.10	protein_coding	C3F|LPCAT|LPLAT 5|LPSAT|MBOAT5|OACT5|nessy	12p13.31	lysophosphatidylcholine acyltransferase 3	Ubiquitous expression in duodenum (RPKM 59.9), small intestine (RPKM 50.5) and 25 other tissues
LPCAT4	chr15	34358618	34367278	-	ENSG00000176454.13	protein_coding	AGPAT7|AYTL3|LPAAT-eta|LPEAT2	15q14	lysophosphatidylcholine acyltransferase 4	Members of the 1-acylglycerol-3-phosphate O-acyltransferase (EC 2.3.1.51) family, such as AGPAT7, catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA), a precursor in the biosynthesis of all glycerolipids. Both LPA and PA are involved in signal transduction (Ye et al., 2005 [PubMed 16243729]).[supplied by OMIM, May 2008]
LPGAT1	chr1	211743457	211830772	-	ENSG00000123684.12	protein_coding	FAM34A|FAM34A1|NET8	1q32.3	lysophosphatidylglycerol acyltransferase 1	This gene encodes a member of the lysophospholipid acyltransferase family. The encoded protein catalyzes the reacylation of lysophosphatidylglycerol to phosphatidylglycerol, a membrane phospholipid that is an important precursor for the synthesis of cardiolipin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
LPIN2	chr18	2916994	3013315	-	ENSG00000101577.9	protein_coding	-	18p11.31	lipin 2	Ubiquitous expression in liver (RPKM 28.7), duodenum (RPKM 22.4) and 25 other tissues
LPIN3	chr20	41340920	41360582	+	ENSG00000132793.11	protein_coding	LIPN3L|SMP2|dJ620E11.2	20q12	lipin 3	The protein encoded by this gene is a member of the lipin family of proteins, and all family members share strong homology in their C-terminal region. This protein is thought to form hetero-oligomers with other lipin family members, while one family member, lipin 1, can also form homo-oligomers. This protein contains conserved motifs for phosphatidate phosphatase 1 (PAP1) activity as well as a domain that interacts with a transcriptional co-activator. Lipin complexes act in the cytoplasm to catalyze the dephosphorylation of phosphatidic acid to produce diacylglycerol, which is the precursor of both triglycerides and phospholipids. Lipin complexes are also thought to regulate gene expression as transcriptional co-activators in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
LPL	chr8	19901717	19967258	+	ENSG00000175445.14	protein_coding	HDLCQ11|LIPD	8p21.3	lipoprotein lipase	LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008]
LPO	chr17	58218548	58268518	+	ENSG00000167419.10	protein_coding	SPO	17q22	lactoperoxidase	This gene encodes a member of the peroxidase family of proteins. The encoded preproprotein is proteolytically processed to generate the mature enzyme. Following its secretion from salivary, mammary, and other mucosal glands, this enzyme catalyzes the generation of the antimicrobial substance hypothiocyanous acid. This gene is present in a gene cluster on chromosome 17. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
LPP	chr3	188153284	188890671	+	ENSG00000145012.13	protein_coding	-	3q27.3-q28	LIM domain containing preferred translocation partner in lipoma	Ubiquitous expression in endometrium (RPKM 14.7), esophagus (RPKM 14.3) and 24 other tissues
LPP-AS1	chr3	188562238	188568666	-	ENSG00000224563.1	antisense	-	3q28	LPP antisense RNA 1	-
LPP-AS2	chr3	188151206	188154057	-	ENSG00000270959.1	antisense	MYCLo-5|MYCLo-6	3q27.3	LPP antisense RNA 2	-
LPXN	chr11	58526871	58578220	-	ENSG00000110031.12	protein_coding	LDPL	11q12.1	leupaxin	The product encoded by this gene is preferentially expressed in hematopoietic cells and belongs to the paxillin protein family. Similar to other members of this focal-adhesion-associated adaptor-protein family, it has four leucine-rich LD-motifs in the N-terminus and four LIM domains in the C-terminus. It may function in cell type-specific signaling by associating with PYK2, a member of focal adhesion kinase family. As a substrate for a tyrosine kinase in lymphoid cells, this protein may also function in, and be regulated by, tyrosine kinase activity. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]
LRAT	chr4	154626945	154753118	+	ENSG00000121207.11	protein_coding	LCA14	4q32.1	lecithin retinol acyltransferase	The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
LRATD1	chr2	 14632717	14651916	+	ENSG00000162981	protein-coding	FAM84A|NSE1|PP11517	2p24.3	LRAT domain containing 1	Broad expression in colon (RPKM 29.3), small intestine (RPKM 11.3) and 16 other tissues
LRATD2	chr8	 126552443	126558478	-	ENSG00000168672	protein-coding	BCMP101|FAM84B|NSE2	8q24.21	LRAT domain containing 2	Ubiquitous expression in kidney (RPKM 18.2), salivary gland (RPKM 11.2) and 25 other tissues
LRBA	chr4	150264531	151015727	-	ENSG00000198589.10	protein_coding	BGL|CDC4L|CVID8|LAB300|LBA	4q31.3	LPS responsive beige-like anchor protein	The protein encoded by this gene is a member of the WDL-BEACH-WD (WBW) gene family. Its expression is induced in B cells and macrophages by bacterial lipopolysaccharides (LPS). The encoded protein associates with protein kinase A and may be involved in leading intracellular vesicles to activated receptor complexes, which aids in the secretion and/or membrane deposition of immune effector molecules. Defects in this gene are associated with the disorder common variable immunodeficiency-8 with autoimmunity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
LRCH1	chr13	46553168	46753040	+	ENSG00000136141.14	protein_coding	CHDC1|NP81	13q14.13-q14.2	leucine rich repeats and calponin homology domain containing 1	This gene encodes a protein with a leucine-rich repeat and a calponin homology domain. Polymorphism in this gene may be associated with susceptibililty to knee osteoarthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2010]
LRCH3	chr3	197791226	197888436	+	ENSG00000186001.12	protein_coding	-	3q29	leucine rich repeats and calponin homology domain containing 3	-
LRCH4	chr7	100574011	100586153	-	ENSG00000077454.15	protein_coding	LRN|LRRN1|LRRN4|PP14183	7q22.1	leucine rich repeats and calponin homology domain containing 4	This gene encodes a protein that contains leucine-rich repeats (LRR) at its amino terminus and that is known to be involved in ligand binding. The carboxyl terminus may act as a membrane anchor. Identified structural elements suggest that the encoded protein resembles a receptor. [provided by RefSeq, Jul 2008]
LRFN2	chr6	40391586	40587465	-	ENSG00000156564.8	protein_coding	FIGLER2|KIAA1246|SALM1	6p21.2-p21.1	leucine rich repeat and fibronectin type III domain containing 2	Low expression observed in reference dataset
LRFN3	chr19	35935358	35945767	+	ENSG00000126243.8	protein_coding	FIGLER1|SALM4	19q13.12	leucine rich repeat and fibronectin type III domain containing 3	Ubiquitous expression in brain (RPKM 3.2), fat (RPKM 3.1) and 24 other tissues
LRFN4	chr11	66856647	66860475	+	ENSG00000173621.8	protein_coding	FIGLER6|SALM3|SALM3.	11q13.2	leucine rich repeat and fibronectin type III domain containing 4	Broad expression in fat (RPKM 5.8), colon (RPKM 4.2) and 22 other tissues
LRFN5	chr14	41607570	41904549	+	ENSG00000165379.13	protein_coding	C14orf146|FIGLER8|SALM5	14q21.1	leucine rich repeat and fibronectin type III domain containing 5	This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [provided by RefSeq, Sep 2016]
LRG1	chr19	4536409	4540474	-	ENSG00000171236.9	protein_coding	HMFT1766|LRG	19p13.3	leucine rich alpha-2-glycoprotein 1	The leucine-rich repeat (LRR) family of proteins, including LRG1, have been shown to be involved in protein-protein interaction, signal transduction, and cell adhesion and development. LRG1 is expressed during granulocyte differentiation (ODonnell et al., 2002 [PubMed 12223515]).[supplied by OMIM, Mar 2008]
LRGUK	chr7	134127299	134264591	+	ENSG00000155530.2	protein_coding	CFAP246	7q33	leucine rich repeats and guanylate kinase domain containing	Biased expression in testis (RPKM 1.3), lung (RPKM 0.2) and 7 other tissues
LRIG1	chr3	66378797	66501263	-	ENSG00000144749.13	protein_coding	LIG-1|LIG1	3p14.1	leucine rich repeats and immunoglobulin like domains 1	Ubiquitous expression in brain (RPKM 61.1), fat (RPKM 28.0) and 23 other tissues
LRIG2	chr1	113073209	113132260	+	ENSG00000198799.11	protein_coding	LIG-2|LIG2|UFS2	1p13.2	leucine rich repeats and immunoglobulin like domains 2	This gene encodes a transmembrane protein containing leucine-rich repeats and immunoglobulin-like domains. The encoded protein promotes epidermal growth factor signalling, resulting in increased proliferation. Its expression in the cytoplasm of glioma cells is correlated with poor survival. Mutations in this gene can cause urofacial syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
LRIG3	chr12	58872149	58920522	-	ENSG00000139263.11	protein_coding	LIG3	12q14.1	leucine rich repeats and immunoglobulin like domains 3	Broad expression in thyroid (RPKM 16.5), skin (RPKM 7.2) and 24 other tissues
LRIT2	chr10	84220495	84225589	-	ENSG00000204033.9	protein_coding	LRRC22	10q23.1	leucine rich repeat, Ig-like and transmembrane domains 2	Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
LRMDA	chr10	 75431624	76560168	+	ENSG00000148655	protein-coding	C10orf11|CDA017	10q22.2-q22.3	leucine rich melanocyte differentiation associated	This gene encodes a leucine-rich repeat protein. The encoded protein is thought to play a role in melanocyte differentiation. Mutations in this gene have been associated with autosomal recessive oculocutaneous albinism 7 (OCA7). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
LRP1	chr12	57128493	57213351	+	ENSG00000123384.13	protein_coding	A2MR|APOER|APR|CD91|IGFBP-3R|IGFBP3R|IGFBP3R1|KPA|LRP|LRP1A|TGFBR5	12q13.3	LDL receptor related protein 1	This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the alpha 2-macroglobulin-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimers disease patients. [provided by RefSeq, Oct 2015]
LRP10	chr14	22871613	22881580	+	ENSG00000197324.8	protein_coding	LRP-10|LRP9|MST087|MSTP087	14q11.2	LDL receptor related protein 10	This gene encodes a low density lipoprotein receptor family protein. A similar protein in mouse is thought to play a role in the uptake of apolipoprotein E-containing lipoproteins. [provided by RefSeq, Jul 2016]
LRP11	chr6	149818798	149864026	-	ENSG00000120256.9	protein_coding	MANSC3|bA350J20.3	6q25.1	LDL receptor related protein 11	Ubiquitous expression in prostate (RPKM 11.0), brain (RPKM 10.7) and 24 other tissues
LRP12	chr8	104489231	104589024	-	ENSG00000147650.11	protein_coding	MIG13A|ST7	8q22.3	LDL receptor related protein 12	This gene encodes a member of the low-density lipoprotein receptor related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many cancer cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
LRP2	chr2	169127109	169362685	-	ENSG00000081479.12	protein_coding	DBS|GP330|LRP-2	2q31.1	LDL receptor related protein 2	The protein encoded by this gene, low density lipoprotein-related protein 2 (LRP2) or megalin, is a multi-ligand endocytic receptor that is expressed in many different tissues but primarily in absorptive epithilial tissues such as the kidney. This glycoprotein has a large amino-terminal extracellular domain, a single transmembrane domain, and a short carboxy-terminal cytoplasmic tail. The extracellular ligand-binding-domains bind diverse macromolecules including albumin, apolipoproteins B and E, and lipoprotein lipase. The LRP2 protein is critical for the reuptake of numerous ligands, including lipoproteins, sterols, vitamin-binding proteins, and hormones. This protein also has a role in cell-signaling; extracellular ligands include parathyroid horomones and the morphogen sonic hedgehog while cytosolic ligands include MAP kinase scaffold proteins and JNK interacting proteins. Recycling of this membrane receptor is regulated by phosphorylation of its cytoplasmic domain. Mutations in this gene cause Donnai-Barrow syndrome (DBS) and facio-oculoacoustico-renal syndrome (FOAR).[provided by RefSeq, Aug 2009]
LRP2BP	chr4	185363879	185395899	-	ENSG00000109771.15	protein_coding	-	4q35.1	LRP2 binding protein	-
LRP3	chr19	33177603	33208867	+	ENSG00000130881.13	protein_coding	-	19q13.11	LDL receptor related protein 3	-
LRP4	chr11	46856868	46918642	-	ENSG00000134569.9	protein_coding	CLSS|CMS17|LRP-4|LRP10|MEGF7|SOST2	11p11.2	LDL receptor related protein 4	This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]
LRP4-AS1	chr11	46846412	46874396	+	ENSG00000247675.6	antisense	-	11p11.2	LRP4 antisense RNA 1	-
LRP5	chr11	68312609	68449275	+	ENSG00000162337.11	protein_coding	BMND1|EVR1|EVR4|HBM|LR3|LRP-5|LRP-7|LRP7|OPPG|OPS|OPTA1|PCLD4|VBCH2	11q13.2	LDL receptor related protein 5	This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
LRP5L	chr22	25351418	25405377	-	ENSG00000100068.11	protein_coding	-	22q11.23	LDL receptor related protein 5 like	Ubiquitous expression in bone marrow (RPKM 1.5), thyroid (RPKM 1.2) and 25 other tissues
LRP6	chr12	12116025	12267012	-	ENSG00000070018.8	protein_coding	ADCAD2|STHAG7	12p13.2	LDL receptor related protein 6	This gene encodes a member of the low density lipoprotein (LDL) receptor gene family. LDL receptors are transmembrane cell surface proteins involved in receptor-mediated endocytosis of lipoprotein and protein ligands. The protein encoded by this gene functions as a receptor or, with Frizzled, a co-receptor for Wnt and thereby transmits the canonical Wnt/beta-catenin signaling cascade. Through its interaction with the Wnt/beta-catenin signaling cascade this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined.[provided by RefSeq, Dec 2009]
LRP8	chr1	53242364	53328070	-	ENSG00000157193.15	protein_coding	APOER2|HSZ75190|LRP-8|MCI1	1p32.3	LDL receptor related protein 8	This gene encodes a member of the low density lipoprotein receptor (LDLR) family. Low density lipoprotein receptors are cell surface proteins that play roles in both signal transduction and receptor-mediated endocytosis of specific ligands for lysosomal degradation. The encoded protein plays a critical role in the migration of neurons during development by mediating Reelin signaling, and also functions as a receptor for the cholesterol transport protein apolipoprotein E. Expression of this gene may be a marker for major depressive disorder. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]
LRPAP1	chr4	3506376	3532559	-	ENSG00000163956.10	protein_coding	A2MRAP|A2RAP|HBP44|MRAP|MYP23|RAP|alpha-2-MRAP	4p16.3	LDL receptor related protein associated protein 1	This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
LRPPRC	chr2	43886508	43996005	-	ENSG00000138095.18	protein_coding	CLONE-23970|GP130|LRP130|LSFC|MC4DN5	2p21	leucine rich pentatricopeptide repeat containing	This gene encodes a leucine-rich protein that has multiple pentatricopeptide repeats (PPR). The precise role of this protein is unknown but studies suggest it may play a role in cytoskeletal organization, vesicular transport, or in transcriptional regulation of both nuclear and mitochondrial genes. The protein localizes primarily to mitochondria and is predicted to have an N-terminal mitochondrial targeting sequence. Mutations in this gene are associated with the French-Canadian type of Leigh syndrome. [provided by RefSeq, Mar 2012]
LRR1	chr14	49598697	49614672	+	ENSG00000165501.16	protein_coding	4-1BBLRR|LRR-1|PPIL5	14q21.3	leucine rich repeat protein 1	The protein encoded by this gene contains a leucine-rich repeat (LRR). It specifically interacts with TNFRSF9/4-1BB, a member of the tumor necrosis factor receptor (TNFR) superfamily. Overexpression of this gene suppresses the activation of NF-kappa B induced by TNFRSF9 or TNF receptor-associated factor 2 (TRAF2), which suggests that this protein is a negative regulator of TNFRSF9-mediated signaling cascades. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
LRRC1	chr6	53794497	53924121	+	ENSG00000137269.14	protein_coding	LANO|dJ523E19.1	6p12.1	leucine rich repeat containing 1	Broad expression in colon (RPKM 4.5), thyroid (RPKM 3.0) and 23 other tissues
LRRC10	chr12	69608564	69611162	-	ENSG00000198812.4	protein_coding	HRLRRP|LRRC10A	12q15	leucine rich repeat containing 10	Predicted to enable actin binding activity. Predicted to be involved in cardiac muscle cell development. Predicted to be located in myofibril. Predicted to be active in cytoskeleton and sarcomere. [provided by Alliance of Genome Resources, Apr 2022]
LRRC10B	chr11	61508800	61511018	+	ENSG00000204950.3	protein_coding	-	11q12.2	leucine rich repeat containing 10B	-
LRRC14	chr8	144517992	144525178	+	ENSG00000160959.7	protein_coding	LRRC14A	8q24.3	leucine rich repeat containing 14	This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
LRRC14B	chr5	191511	195353	+	ENSG00000185028.3	protein_coding	-	5p15.33	leucine rich repeat containing 14B	Biased expression in heart (RPKM 5.9) and prostate (RPKM 0.8)
LRRC17	chr7	102912991	102944949	+	ENSG00000128606.12	protein_coding	P37NB	7q22.1	leucine rich repeat containing 17	Biased expression in ovary (RPKM 29.2), gall bladder (RPKM 13.5) and 10 other tissues
LRRC2	chr3	46515423	46580099	-	ENSG00000163827.12	protein_coding	-	3p21.31	leucine rich repeat containing 2	Biased expression in heart (RPKM 15.6), thyroid (RPKM 11.1) and 9 other tissues
LRRC2-AS1	chr3	46557398	46559694	+	ENSG00000268324.2	antisense	LUZP3|LUZP3P|LUZPP1	3p21.31	LRRC2 antisense RNA 1	Low expression observed in reference dataset
LRRC23	chr12	6873569	6914243	+	ENSG00000010626.14	protein_coding	LRPB7	12p13.31	leucine rich repeat containing 23	Broad expression in testis (RPKM 16.2), lung (RPKM 5.4) and 20 other tissues
LRRC25	chr19	18391144	18397617	-	ENSG00000175489.9	protein_coding	MAPA	19p13.11	leucine rich repeat containing 25	Broad expression in spleen (RPKM 16.6), bone marrow (RPKM 11.9) and 16 other tissues
LRRC26	chr9	137168758	137170051	-	ENSG00000184709.7	protein_coding	CAPC|bA350O14.10	9q34.3	leucine rich repeat containing 26	Biased expression in prostate (RPKM 24.0), colon (RPKM 13.3) and 1 other tissue
LRRC27	chr10	132332154	132379918	+	ENSG00000148814.17	protein_coding	-	10q26.3	leucine rich repeat containing 27	-
LRRC28	chr15	99251362	99390729	+	ENSG00000168904.14	protein_coding	-	15q26.3	leucine rich repeat containing 28	-
LRRC29	chr16	67207139	67227048	-	ENSG00000125122.15	protein_coding	FBL9|FBXL9	16q22.1	leucine rich repeat containing 29	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains 9 tandem leucine-rich repeats. Two transcript variants encoding the same protein have been found for this gene. Other variants may occur, but their full-length natures have not been characterized. [provided by RefSeq, Jul 2008]
LRRC3	chr21	44455486	44462196	+	ENSG00000160233.7	protein_coding	C21orf102|C21orf30|LRRC3DN	21q22.3	leucine rich repeat containing 3	Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
LRRC32	chr11	76657524	76670747	-	ENSG00000137507.11	protein_coding	CPPRDD|D11S833E|GARP	11q13.5	leucine rich repeat containing 32	This gene encodes a type I membrane protein which contains 20 leucine-rich repeats. Alterations in the chromosomal region 11q13-11q14 are involved in several pathologies. [provided by RefSeq, Jul 2008]
LRRC34	chr3	169793428	169812986	-	ENSG00000171757.15	protein_coding	-	3q26.2	leucine rich repeat containing 34	-
LRRC36	chr16	67326798	67385203	+	ENSG00000159708.17	protein_coding	RORBP70|XLHSRF2	16q22.1	leucine rich repeat containing 36	Biased expression in testis (RPKM 11.4), lung (RPKM 7.2) and 1 other tissue
LRRC37A	chr17	46292733	46337794	+	ENSG00000176681.14	protein_coding	LRRC37	17q21.31	leucine rich repeat containing 37A	Broad expression in testis (RPKM 14.7), bone marrow (RPKM 4.6) and 23 other tissues
LRRC37A11P	chr17	39027277	39053205	+	ENSG00000214553.9	transcribed_unprocessed_pseudogene	LRRC37F	17q12	leucine rich repeat containing 37 member A11, pseudogene	Biased expression in testis (RPKM 1.8), skin (RPKM 0.7) and 1 other tissue
LRRC37A14P	chr22	41189727	41190188	-	ENSG00000215771.2	processed_pseudogene	-	22q13.2	leucine rich repeat containing 37 member A14, pseudogene	-
LRRC37A15P	chr4	102727274	102730721	-	ENSG00000230069.3	processed_pseudogene	-	4q24	leucine rich repeat containing 37 member A15, pseudogene	-
LRRC37A16P	chr17	68125777	68152468	-	ENSG00000267023.5	transcribed_unprocessed_pseudogene	LRRC37C	17q24.2	leucine rich repeat containing 37 member A16, pseudogene	-
LRRC37A17P	chr17	46978481	47054569	+	ENSG00000263142.5	transcribed_unprocessed_pseudogene	LRRC37A5	17q21.32	leucine rich repeat containing 37 member A17, pseudogene	-
LRRC37A2	chr17	46511511	46555650	+	ENSG00000238083.7	protein_coding	LRRC37	17q21.31-q21.32	leucine rich repeat containing 37 member A2	Broad expression in testis (RPKM 18.7), bone marrow (RPKM 5.7) and 23 other tissues
LRRC37A3	chr17	64854312	64919480	-	ENSG00000176809.10	protein_coding	LRRC37|LRRC37A	17q24.1	leucine rich repeat containing 37 member A3	Broad expression in testis (RPKM 11.0), thyroid (RPKM 2.4) and 22 other tissues
LRRC37A4P	chr17	45506741	45550335	-	ENSG00000214425.7	transcribed_unprocessed_pseudogene	LRRC37|LRRC37A4	17q21.31	leucine rich repeat containing 37 member A4, pseudogene	-
LRRC37A6P	chr10	27246350	27259455	-	ENSG00000230445.4	transcribed_processed_pseudogene	LRRC37E	10p12.1	leucine rich repeat containing 37 member A6, pseudogene	-
LRRC37A9P	chr17	35912635	35918010	-	ENSG00000271013.1	processed_pseudogene	-	17q12	leucine rich repeat containing 37 member A9, pseudogene	-
LRRC37B	chr17	32007872	32053504	+	ENSG00000185158.12	protein_coding	LRRC37	17q11.2	leucine rich repeat containing 37B	Broad expression in testis (RPKM 10.5), bone marrow (RPKM 7.6) and 23 other tissues
LRRC37BP1	chr17	30629680	30637466	+	ENSG00000250462.8	transcribed_unprocessed_pseudogene	LRRC37B2	17q11.2	leucine rich repeat containing 37B pseudogene 1	-
LRRC38	chr1	13474977	13514048	-	ENSG00000162494.5	protein_coding	-	1p36.21	leucine rich repeat containing 38	-
LRRC39	chr1	100148449	100178273	-	ENSG00000122477.12	protein_coding	-	1p21.2	leucine rich repeat containing 39	-
LRRC3B	chr3	26622806	26710776	+	ENSG00000179796.11	protein_coding	LRP15	3p24.1	leucine rich repeat containing 3B	The protein encoded by this gene is a tumor suppressor, with lowered expression levels found in gastric, renal, colorectal, lung, and breast cancer tissues. The promoter of this gene is frequently hypermethylated in these cancer tissues, although the hypermethylation does not appear to be the cause of the reduced expression of this gene. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]
LRRC3C	chr17	39941474	39944747	+	ENSG00000204913.5	protein_coding	-	17q21.1	leucine rich repeat containing 3C	-
LRRC4	chr7	128027071	128032107	-	ENSG00000128594.7	protein_coding	NAG14|NGL-2	7q32.1	leucine rich repeat containing 4	This gene is significantly downregulated in primary brain tumors. The exact function of the protein encoded by this gene is unknown. [provided by RefSeq, Jul 2008]
LRRC41	chr1	46261196	46303608	-	ENSG00000132128.16	protein_coding	MUF1|PP7759	1p34.1-p33	leucine rich repeat containing 41	Ubiquitous expression in thyroid (RPKM 20.0), ovary (RPKM 19.8) and 25 other tissues
LRRC42	chr1	53946077	53968168	+	ENSG00000116212.14	protein_coding	dJ167A19.4	1p32.3	leucine rich repeat containing 42	Ubiquitous expression in thyroid (RPKM 11.3), testis (RPKM 10.8) and 25 other tissues
LRRC43	chr12	122167738	122203471	+	ENSG00000158113.12	protein_coding	-	12q24.31	leucine rich repeat containing 43	-
LRRC45	chr17	82023302	82031151	+	ENSG00000169683.7	protein_coding	-	17q25.3	leucine rich repeat containing 45	-
LRRC46	chr17	47831627	47837713	+	ENSG00000141294.9	protein_coding	-	17q21.32	leucine rich repeat containing 46	-
LRRC47	chr1	3778558	3796504	-	ENSG00000130764.9	protein_coding	-	1p36.32	leucine rich repeat containing 47	-
LRRC49	chr15	70853239	71053657	+	ENSG00000137821.11	protein_coding	PGs4	15q23	leucine rich repeat containing 49	Broad expression in heart (RPKM 8.5), testis (RPKM 7.2) and 19 other tissues
LRRC4B	chr19	50516892	50568045	-	ENSG00000131409.12	protein_coding	HSM|LRIG4|NGL-3	19q13.33	leucine rich repeat containing 4B	Predicted to enable signaling receptor binding activity. Predicted to be involved in regulation of synapse assembly and synaptic membrane adhesion. Predicted to be located in cerebellar mossy fiber and presynaptic membrane. Predicted to be active in glutamatergic synapse and plasma membrane. Predicted to be integral component of postsynaptic density membrane. [provided by Alliance of Genome Resources, Apr 2022]
LRRC52	chr1	165544007	165563961	+	ENSG00000162763.3	protein_coding	-	1q24.1	leucine rich repeat containing 52	-
LRRC53	chr1	74469878	74512614	-	ENSG00000162621.6	protein_coding	-	1p31.1	leucine rich repeat containing 53	-
LRRC55	chr11	57181747	57191717	+	ENSG00000183908.5	protein_coding	-	11q12.1	leucine rich repeat containing 55	-
LRRC56	chr11	537527	554916	+	ENSG00000161328.10	protein_coding	CILD39|DNAAF12	11p15.5	leucine rich repeat containing 56	Broad expression in testis (RPKM 4.5), skin (RPKM 0.8) and 17 other tissues
LRRC57	chr15	42537820	42548802	-	ENSG00000180979.9	protein_coding	-	15q15.2	leucine rich repeat containing 57	-
LRRC58	chr3	120324509	120349339	-	ENSG00000163428.3	protein_coding	-	3q13.33	leucine rich repeat containing 58	-
LRRC59	chr17	50375059	50397553	-	ENSG00000108829.9	protein_coding	PRO1855|p34	17q21.33	leucine rich repeat containing 59	Ubiquitous expression in colon (RPKM 47.1), stomach (RPKM 37.6) and 25 other tissues
LRRC61	chr7	150322639	150338150	+	ENSG00000127399.14	protein_coding	HSPC295	7q36.1	leucine rich repeat containing 61	Ubiquitous expression in ovary (RPKM 5.1), adrenal (RPKM 4.0) and 25 other tissues
LRRC63	chr13	46211943	46277366	+	ENSG00000173988.12	protein_coding	-	13q14.13	leucine rich repeat containing 63	-
LRRC66	chr4	51993702	52017620	-	ENSG00000188993.3	protein_coding	-	4q12	leucine rich repeat containing 66	Biased expression in duodenum (RPKM 4.6), small intestine (RPKM 4.1) and 4 other tissues
LRRC69	chr8	91101832	91219236	+	ENSG00000214954.8	protein_coding	-	8q21.3	leucine rich repeat containing 69	-
LRRC7	chr1	69568398	70151945	+	ENSG00000033122.18	protein_coding	DENSIN	1p31.1	leucine rich repeat containing 7	Biased expression in brain (RPKM 2.3), testis (RPKM 0.6) and 2 other tissues
LRRC70	chr5	62578735	62581448	+	ENSG00000186105.7	protein_coding	SLRN	5q12.1	leucine rich repeat containing 70	Involved in positive regulation of response to cytokine stimulus. Is integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
LRRC71	chr1	156920650	156933094	+	ENSG00000160838.13	protein_coding	C1orf92	1q23.1	leucine rich repeat containing 71	Restricted expression toward testis (RPKM 8.7)
LRRC73	chr6	43506969	43510686	-	ENSG00000204052.4	protein_coding	C6orf154	6p21.1	leucine rich repeat containing 73	Biased expression in testis (RPKM 12.8), brain (RPKM 2.3) and 2 other tissues
LRRC75A	chr17	16441577	16492153	-	ENSG00000181350.11	protein_coding	C17orf76|FAM211A	17p11.2	leucine rich repeat containing 75A	Ubiquitous expression in urinary bladder (RPKM 22.4), thyroid (RPKM 17.1) and 21 other tissues
LRRC8A	chr9	128882112	128918039	+	ENSG00000136802.11	protein_coding	AGM5|HsLRRC8A|LRRC8|SWELL1	9q34.11	leucine rich repeat containing 8 VRAC subunit A	This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
LRRC8B	chr1	89524836	89597864	+	ENSG00000197147.13	protein_coding	TA-LRRP|TALRRP	1p22.2	leucine rich repeat containing 8 VRAC subunit B	Broad expression in brain (RPKM 8.6), adrenal (RPKM 5.3) and 25 other tissues
LRRC8C	chr1	89633072	89769903	+	ENSG00000171488.14	protein_coding	AD158|FAD158	1p22.2	leucine rich repeat containing 8 VRAC subunit C	Ubiquitous expression in fat (RPKM 7.4), lymph node (RPKM 5.7) and 24 other tissues
LRRC8D	chr1	89821014	89936611	+	ENSG00000171492.14	protein_coding	HsLRRC8D|LRRC5	1p22.2	leucine rich repeat containing 8 VRAC subunit D	Ubiquitous expression in adrenal (RPKM 8.5), brain (RPKM 8.2) and 25 other tissues
LRRC9	chr14	59919713	60063559	+	ENSG00000131951.10	protein_coding	-	14q23.1	leucine rich repeat containing 9	-
LRRCC1	chr8	85107147	85146076	+	ENSG00000133739.15	protein_coding	CLERC|CLERK|SAP2|VFL1	8q21.2	leucine rich repeat and coiled-coil centrosomal protein 1	This gene encodes a centrosomal protein that maintains the structural integrity of the centrosome and plays a key role in mitotic spindle formation. The encoded protein contains an N-terminal leucine-rich repeat domain and a C-terminal coiled-coil domain. It associates with the centrosome throughout the cell cycle and accumulates on the mitotic centrosome. [provided by RefSeq, Mar 2017]
LRRD1	chr7	92112159	92179531	-	ENSG00000240720.7	protein_coding	-	7q21.2	leucine rich repeats and death domain containing 1	-
LRRFIP2	chr3	37052656	37183689	-	ENSG00000093167.17	protein_coding	HUFI-2	3p22.2	LRR binding FLII interacting protein 2	The protein encoded by this gene, along with MYD88, binds to the cytosolic tail of toll-like receptor 4 (TLR4), which results in activation of nuclear factor kappa B signaling. The ubiquitin-like protein FAT10 prevents the interaction of the encoded protein and TLR4, thereby inactivating the nuclear factor kappa B signaling pathway. In addition, this protein can downregulate the NLRP3 inflammasome by recruiting the caspase-1 inhibitor Flightless-I to the inflammasome complex. [provided by RefSeq, Jan 2017]
LRRIQ1	chr12	85036314	85263224	+	ENSG00000133640.18	protein_coding	-	12q21.31	leucine rich repeats and IQ motif containing 1	-
LRRIQ3	chr1	74026015	74198187	-	ENSG00000162620.15	protein_coding	LRRC44	1p31.1	leucine rich repeats and IQ motif containing 3	Biased expression in testis (RPKM 6.2) and fat (RPKM 0.4)
LRRIQ4	chr3	169821922	169837775	+	ENSG00000188306.6	protein_coding	LRRC64	3q26.2	leucine rich repeats and IQ motif containing 4	Biased expression in testis (RPKM 1.1), colon (RPKM 0.3) and 5 other tissues
LRRK1	chr15	100919215	101078254	+	ENSG00000154237.12	protein_coding	RIPK6|Roco1	15q26.3	leucine rich repeat kinase 1	This gene encodes a multi-domain protein that is a leucine-rich repeat kinase and a GDP/GTP binding protein. The encoded protein is thought to play a role in the regulation of bone mass. Mice lacking a similar gene showed severe osteopetrosis, increased bone mineralization and decreased bone resorption. [provided by RefSeq, Jan 2017]
LRRK2	chr12	40196744	40369285	+	ENSG00000188906.14	protein_coding	AURA17|DARDARIN|PARK8|RIPK7|ROCO2	12q12	leucine rich repeat kinase 2	This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]
LRRN1	chr3	3799437	3847703	+	ENSG00000175928.5	protein_coding	FIGLER3|NLRR-1	3p26.2	leucine rich repeat neuronal 1	Biased expression in brain (RPKM 12.5), testis (RPKM 4.5) and 8 other tissues
LRRN2	chr1	204617170	204685733	-	ENSG00000170382.11	protein_coding	FIGLER7|GAC1|LRANK1|LRRN5	1q32.1	leucine rich repeat neuronal 2	The protein encoded by this gene belongs to the leucine-rich repeat superfamily. This gene was found to be amplified and overexpressed in malignant gliomas. The encoded protein has homology with other proteins that function as cell-adhesion molecules or as signal transduction receptors and is a candidate for the target gene in the 1q32.1 amplicon in malignant gliomas. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
LRRN3	chr7	111091006	111125454	+	ENSG00000173114.12	protein_coding	FIGLER5|NLRR-3|NLRR3	7q31.1	leucine rich repeat neuronal 3	Biased expression in adrenal (RPKM 13.7), brain (RPKM 11.9) and 12 other tissues
LRRN4	chr20	6040778	6054049	-	ENSG00000125872.7	protein_coding	C20orf75|NLRR-4|NLRR4|dJ1056H1.1	20p12.3	leucine rich repeat neuronal 4	Biased expression in lung (RPKM 6.4) and kidney (RPKM 1.0)
LRSAM1	chr9	127451486	127503501	+	ENSG00000148356.13	protein_coding	CMT2P|RIFLE|TAL	9q33.3-q34.11	leucine rich repeat and sterile alpha motif containing 1	This gene encodes a ring finger protein involved in a variety of functions, including regulation of signaling pathways and cell adhesion, mediation of self-ubiquitylation, and involvement in cargo sorting during receptor endocytosis. Mutations in this gene have been associated with Charcot-Marie-Tooth disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jan 2012]
LRTM1	chr3	54918237	54967088	-	ENSG00000144771.7	protein_coding	HT017	3p14.3	leucine rich repeats and transmembrane domains 1	Biased expression in spleen (RPKM 2.9), esophagus (RPKM 1.8) and 1 other tissue
LRTOMT	chr11	72080331	72110782	+	ENSG00000184154.13	protein_coding	CFAP111|DFNB63|LRRC51	11q13.4	leucine rich transmembrane and O-methyltransferase domain containing	This locus represents naturally occurring readthrough transcription between the neighboring LRRC51 (leucine-rich repeat containing 51) and TOMT (transmembrane O-methyltransferase) genes on chromosome 11. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. Multiple reports implicate mutations in this gene in nonsyndromic deafness.[provided by RefSeq, Feb 2021]
LRWD1	chr7	102464929	102473168	+	ENSG00000161036.12	protein_coding	CENP-33|ORCA	7q22.1	leucine rich repeats and WD repeat domain containing 1	The protein encoded by this gene interacts with components of the origin recognition complex (ORC) and regulates the formation of the prereplicative complex. The encoded protein stabilizes the ORC and therefore aids in DNA replication. This protein is required for the G1/S phase transition of the cell cycle. In addition, the encoded protein binds to trimethylated histone H3 in heterochromatin and recruits the ORC and lysine methyltransferases, which help maintain the repressive heterochromatic state. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
LSAMP	chr3	115802363	117139389	-	ENSG00000185565.11	protein_coding	IGLON3|LAMP	3q13.31	limbic system associated membrane protein	This gene encodes a member of the immunoglobulin LAMP, OBCAM and neurotrimin (IgLON) family of proteins. The encoded preproprotein is proteolytically processed to generate a neuronal surface glycoprotein. This protein may act as a selective homophilic adhesion molecule during axon guidance and neuronal growth in the developing limbic system. The encoded protein may also function as a tumor suppressor and may play a role in neuropsychiatric disorders. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
LSG1	chr3	194640788	194672477	-	ENSG00000041802.10	protein_coding	-	3q29	large 60S subunit nuclear export GTPase 1	Ubiquitous expression in bone marrow (RPKM 9.7), thyroid (RPKM 9.6) and 25 other tissues
LSM1	chr8	38163321	38176730	-	ENSG00000175324.9	protein_coding	CASM|YJL124C	8p11.23	LSM1 homolog, mRNA degradation associated	This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Increased expression of this gene may play a role in cellular transformation and the progression of several malignancies including lung cancer, mesothelioma and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Nov 2011]
LSM10	chr1	36391238	36397892	-	ENSG00000181817.5	protein_coding	MST074|MSTP074	1p34.3	LSM10, U7 small nuclear RNA associated	Ubiquitous expression in lymph node (RPKM 20.1), spleen (RPKM 17.7) and 25 other tissues
LSM11	chr5	157743695	157760709	+	ENSG00000155858.5	protein_coding	AGS8	5q33.3	LSM11, U7 small nuclear RNA associated	Ubiquitous expression in brain (RPKM 3.6), testis (RPKM 3.3) and 25 other tissues
LSM12	chr17	44034635	44067619	-	ENSG00000161654.9	protein_coding	PNAS-135	17q21.31	LSM12 homolog	Ubiquitous expression in testis (RPKM 15.2), placenta (RPKM 11.4) and 25 other tissues
LSM14A	chr19	34172504	34229515	+	ENSG00000257103.8	protein_coding	C19orf13|FAM61A|RAP55|RAP55A	19q13.11	LSM14A mRNA processing body assembly factor	Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Mar 2008]
LSM14B	chr20	62122461	62135378	+	ENSG00000149657.19	protein_coding	C20orf40|FAM61B|FT005|LSM13|RAP55B|bA11M20.3	20q13.33	LSM family member 14B	Enables RNA binding activity. Predicted to be involved in regulation of translation. [provided by Alliance of Genome Resources, Apr 2022]
LSM2	chr6	31797396	31806984	-	ENSG00000204392.10	protein_coding	C6orf28|G7B|YBL026W|snRNP	6p21.33	LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated	This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Pseudogenes of this gene are located on the short arm of chromosomes 6 and 19. [provided by RefSeq, Nov 2011]
LSM3	chr3	14178358	14201119	+	ENSG00000170860.3	protein_coding	SMX4|USS2|YLR438C	3p25.1	LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated	Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]
LSM4	chr19	18306230	18323274	-	ENSG00000130520.10	protein_coding	GRP|YER112W	19p13.11	LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated	This gene encodes a member of the LSm family of RNA-binding proteins. LSm proteins form stable heteromers that bind specifically to the 3-terminal oligo(U) tract of U6 snRNA and may play a role in pre-mRNA splicing by mediating U4/U6 snRNP formation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
LSM6	chr4	146175685	146200000	+	ENSG00000164167.10	protein_coding	YDR378C	4q31.22	LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated	Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]
LSM7	chr19	2321517	2328620	-	ENSG00000130332.14	protein_coding	YNL147W	19p13.3	LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated	Sm-like proteins were identified in a variety of organisms based on sequence homology with the Sm protein family (see SNRPD2; MIM 601061). Sm-like proteins contain the Sm sequence motif, which consists of 2 regions separated by a linker of variable length that folds as a loop. The Sm-like proteins are thought to form a stable heteromer present in tri-snRNP particles, which are important for pre-mRNA splicing.[supplied by OMIM, Apr 2004]
LSMEM1	chr7	112480853	112491062	+	ENSG00000181016.9	protein_coding	C7orf53	7q31.1	leucine rich single-pass membrane protein 1	Low expression observed in reference dataset
LSMEM2	chr3	50279027	50288114	+	ENSG00000179564.3	protein_coding	C3orf45	3p21.31	leucine rich single-pass membrane protein 2	Ubiquitous expression in heart (RPKM 6.3), prostate (RPKM 1.9) and 25 other tissues
LSP1	chr11	1852970	1892267	+	ENSG00000130592.15	protein_coding	WP34|pp52	11p15.5	lymphocyte specific protein 1	This gene encodes an intracellular F-actin binding protein. The protein is expressed in lymphocytes, neutrophils, macrophages, and endothelium and may regulate neutrophil motility, adhesion to fibrinogen matrix proteins, and transendothelial migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
LSR	chr19	35248330	35267964	+	ENSG00000105699.16	protein_coding	ILDR3|LISCH7	19q13.12	lipolysis stimulated lipoprotein receptor	Broad expression in stomach (RPKM 52.0), colon (RPKM 51.5) and 22 other tissues
LSS	chr21	46188141	46228824	-	ENSG00000160285.14	protein_coding	APMR4|CTRCT44|HYPT14|OSC	21q22.3	lanosterol synthase	The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]
LST1	chr6	31586124	31588909	+	ENSG00000204482.10	protein_coding	B144|D6S49E|LST-1	6p21.33	leukocyte specific transcript 1	The protein encoded by this gene is a membrane protein that can inhibit the proliferation of lymphocytes. Expression of this gene is enhanced by lipopolysaccharide, interferon-gamma, and bacteria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
LTA	chr6	31572054	31574324	+	ENSG00000226979.8	protein_coding	LT|TNFB|TNFSF1|TNLG1E	6p21.33	lymphotoxin alpha	The encoded protein, a member of the tumor necrosis factor family, is a cytokine produced by lymphocytes. The protein is highly inducible, secreted, and forms heterotrimers with lymphotoxin-beta which anchor lymphotoxin-alpha to the cell surface. This protein also mediates a large variety of inflammatory, immunostimulatory, and antiviral responses, is involved in the formation of secondary lymphoid organs during development and plays a role in apoptosis. Genetic variations in this gene are associated with susceptibility to leprosy type 4, myocardial infarction, non-Hodgkins lymphoma, and psoriatic arthritis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
LTA4H	chr12	96000828	96043520	-	ENSG00000111144.9	protein_coding	-	12q23.1	leukotriene A4 hydrolase	Ubiquitous expression in lung (RPKM 63.8), bone marrow (RPKM 53.7) and 25 other tissues
LTB	chr6	31580525	31582522	-	ENSG00000227507.2	protein_coding	TNFC|TNFSF3|TNLG1C|p33	6p21.33	lymphotoxin beta	Lymphotoxin beta is a type II membrane protein of the TNF family. It anchors lymphotoxin-alpha to the cell surface through heterotrimer formation. The predominant form on the lymphocyte surface is the lymphotoxin-alpha 1/beta 2 complex (e.g. 1 molecule alpha/2 molecules beta) and this complex is the primary ligand for the lymphotoxin-beta receptor. The minor complex is lymphotoxin-alpha 2/beta 1. LTB is an inducer of the inflammatory response system and involved in normal development of lymphoid tissue. Lymphotoxin-beta isoform b is unable to complex with lymphotoxin-alpha suggesting a function for lymphotoxin-beta which is independent of lympyhotoxin-alpha. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
LTB4R	chr14	24311450	24318036	+	ENSG00000213903.8	protein_coding	BLT1|BLTR|CMKRL1|GPR16|LTB4R1|LTBR1|P2RY7|P2Y7	14q12	leukotriene B4 receptor	Biased expression in skin (RPKM 33.9), esophagus (RPKM 9.6) and 10 other tissues
LTB4R2	chr14	24305734	24312053	+	ENSG00000213906.9	protein_coding	BLT2|BLTR2|JULF2|KPG_004|LTB4-R 2|LTB4-R2|NOP9	14q12	leukotriene B4 receptor 2	Broad expression in skin (RPKM 12.7), spleen (RPKM 9.3) and 21 other tissues
LTBP1	chr2	32946972	33399509	+	ENSG00000049323.15	protein_coding	ARCL2E	2p22.3	latent transforming growth factor beta binding protein 1	The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
LTBP2	chr14	74498170	74612378	-	ENSG00000119681.11	protein_coding	C14orf141|GLC3D|LTBP3|MSPKA|MSTP031|WMS3	14q24.3	latent transforming growth factor beta binding protein 2	The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008]
LTBP3	chr11	65538805	65558930	-	ENSG00000168056.15	protein_coding	DASS|GPHYSD3|LTBP-3|LTBP2|STHAG6|pp6425	11q13.1	latent transforming growth factor beta binding protein 3	The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
LTBP4	chr19	40592883	40629818	+	ENSG00000090006.17	protein_coding	ARCL1C|LTBP-4|LTBP4L|LTBP4S	19q13.2	latent transforming growth factor beta binding protein 4	The protein encoded by this gene binds transforming growth factor beta (TGFB) as it is secreted and targeted to the extracellular matrix. TGFB is biologically latent after secretion and insertion into the extracellular matrix, and sheds TGFB and other proteins upon activation. Defects in this gene may be a cause of cutis laxa and severe pulmonary, gastrointestinal, and urinary abnormalities. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
LTBR	chr12	6375045	6391571	+	ENSG00000111321.10	protein_coding	D12S370|LT-BETA-R|TNF-R-III|TNFCR|TNFR-RP|TNFR2-RP|TNFR3|TNFRSF3	12p13.31	lymphotoxin beta receptor	This gene encodes a member of the tumor necrosis factor receptor superfamily. The major ligands of this receptor include lymphotoxin alpha/beta and tumor necrosis factor ligand superfamily member 14. The encoded protein plays a role in signalling during the development of lymphoid and other organs, lipid metabolism, immune response, and programmed cell death. Activity of this receptor has also been linked to carcinogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2012]
LTF	chr3	46435645	46485234	-	ENSG00000012223.12	protein_coding	GIG12|HEL110|HLF2|LF	3p21.31	lactotransferrin	This gene is a member of the transferrin family of genes and its protein product is found in the secondary granules of neutrophils. The protein is a major iron-binding protein in milk and body secretions with an antimicrobial activity, making it an important component of the non-specific immune system. The protein demonstrates a broad spectrum of properties, including regulation of iron homeostasis, host defense against a broad range of microbial infections, anti-inflammatory activity, regulation of cellular growth and differentiation and protection against cancer development and metastasis. Antimicrobial, antiviral, antifungal and antiparasitic activity has been found for this protein and its peptides. Activity against both DNA and RNA viruses has been found, including activity against SARS-CoV-2, and HIV. [provided by RefSeq, Jul 2021]
LTK	chr15	41503638	41513887	-	ENSG00000062524.15	protein_coding	TYK1	15q15.1	leukocyte receptor tyrosine kinase	The protein encoded by this gene is a member of the ros/insulin receptor family of tyrosine kinases. Tyrosine-specific phosphorylation of proteins is a key to the control of diverse pathways leading to cell growth and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
LTN1	chr21	28928144	28992956	-	ENSG00000198862.13	protein_coding	C21orf10|C21orf98|RNF160|ZNF294	21q21.3	listerin E3 ubiquitin protein ligase 1	Like most RING finger proteins, LTN1 functions as an E3 ubiquitin ligase (Chu et al., 2009 [PubMed 19196968]).[supplied by OMIM, Nov 2010]
LTO1	chr11	 69665563	69675353	-	ENSG00000149716	protein-coding	CIAB1|ORAOV1|TAOS1	11q13.3	LTO1 maturation factor of ABCE1	Ubiquitous expression in testis (RPKM 2.2), skin (RPKM 2.1) and 25 other tissues
LTV1P1	chr4	120091046	120092282	-	ENSG00000250219.2	processed_pseudogene	-	4q27	LTV1 ribosome biogenesis factor pseudogene 1	-
LUC7L	chr16	188969	229463	-	ENSG00000007392.16	protein_coding	LUC7B1|Luc7|SR+89|hLuc7B1	16p13.3	LUC7 like	The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001 [PubMed 11170747]).[supplied by OMIM, Mar 2008]
LUC7L2	chr7	139340359	139423457	+	ENSG00000146963.17	protein_coding	CGI-59|CGI-74|LUC7B2	7q34	LUC7 like 2, pre-mRNA splicing factor	This gene encodes a protein that contains a C2H2-type zinc finger, coiled-coil region and arginine, serine-rich (RS) domain. A similar protein in mouse interacts with sodium channel modifier 1, and the encoded protein may be involved in the recognition of non-consensus splice donor sites in association with the U1 snRNP spliceosomal subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
LUC7L3	chr17	50719544	50756213	+	ENSG00000108848.15	protein_coding	CRA|CREAP-1|CROP|LUC7A|OA48-18|hLuc7A	17q21.33	LUC7 like 3 pre-mRNA splicing factor	This gene encodes a protein with an N-terminal half that contains cysteine/histidine motifs and leucine zipper-like repeats, and the C-terminal half is rich in arginine and glutamate residues (RE domain) and arginine and serine residues (RS domain). This protein localizes with a speckled pattern in the nucleus, and could be involved in the formation of splicesome via the RE and RS domains. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2009]
LUM	chr12	91102629	91111831	-	ENSG00000139329.4	protein_coding	LDC|SLRR2D	12q21.33	lumican	This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, the protein moiety binds collagen fibrils and the highly charged hydrophilic glycosaminoglycans regulate interfibrillar spacings. Lumican is the major keratan sulfate proteoglycan of the cornea but is also distributed in interstitial collagenous matrices throughout the body. Lumican may regulate collagen fibril organization and circumferential growth, corneal transparency, and epithelial cell migration and tissue repair. [provided by RefSeq, Jul 2008]
LURAP1	chr1	46203334	46221261	+	ENSG00000171357.5	protein_coding	C1orf190|LRAP35a|LRP35A	1p34.1	leucine rich adaptor protein 1	Broad expression in thyroid (RPKM 5.9), testis (RPKM 4.8) and 20 other tissues
LURAP1L	chr9	12775021	12822131	+	ENSG00000153714.5	protein_coding	C9orf150|HYST0841|LRAP35b|bA3L8.2	9p23	leucine rich adaptor protein 1 like	Ubiquitous expression in placenta (RPKM 9.1), lung (RPKM 7.8) and 23 other tissues
LUZP1	chr1	23084023	23177808	-	ENSG00000169641.13	protein_coding	LUZP	1p36.12	leucine zipper protein 1	This gene encodes a protein that contains a leucine zipper motif. The exact function of the encoded protein is not known. In mice this gene affects neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
LUZP6	chr7	135927274	135927450	-	ENSG00000267697.1	protein_coding	MPD6|MTPNUT	7q33	leucine zipper protein 6	A bi-cistronic transcript encodes the products of both the myotrophin and leucine zipper protein 6 genes, which are located on chromosome 7. A cryptic ORF at the 3 end of the myotrophin transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq, Jul 2008]
LVRN	chr5	115962454	116027619	+	ENSG00000172901.19	protein_coding	APQ|AQPEP|TAQPEP	5q23.1	laeverin	Predicted to enable metalloaminopeptidase activity; peptide binding activity; and zinc ion binding activity. Predicted to be involved in several processes, including peptide catabolic process; proteolysis; and regulation of blood pressure. Predicted to be integral component of membrane. Predicted to be active in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
LXN	chr3	158645822	158672693	-	ENSG00000079257.7	protein_coding	ECI|TCI	3q25.32	latexin	This gene encodes the only known protein inhibitor of zinc-dependent metallocarboxypeptidases. The encoded protein, latexin, downregulates the population size of hematopoietic stem cells. This protein is found to be downregulated in cancer cells because of promoter hypermethylation. [provided by RefSeq, Jul 2020]
LY6D	chr8	142784880	142786592	-	ENSG00000167656.4	protein_coding	E48|Ly-6D	8q24.3	lymphocyte antigen 6 family member D	Biased expression in esophagus (RPKM 212.7) and skin (RPKM 206.5)
LY6E	chr8	143017982	143023832	+	ENSG00000160932.10	protein_coding	RIG-E|RIGE|SCA-2|SCA2|TSA-1	8q24.3	lymphocyte antigen 6 family member E	This gene belongs to the human Ly6 gene family and encodes a glycosylphosphatidyl-inositol (GPI)-anchored cell surface protein. The protein plays an important role in T cell physiology, oncogenesis and immunological regulation. The protein is also involved in modulation of viral infection by coronaviruses, SARS-CoV, MERS-CoV and SARS-CoV-2. [provided by RefSeq, Aug 2021]
LY6G5B	chr6	31670167	31673776	+	ENSG00000240053.8	protein_coding	C6orf19|G5b	6p21.33	lymphocyte antigen 6 family member G5B	LY6G5B belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]
LY6G5C	chr6	31676684	31684040	-	ENSG00000204428.12	protein_coding	C6orf20|G5C|LY6G5CA|LY6G5CB|NG33	6p21.33	lymphocyte antigen 6 family member G5C	LY6G5C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]
LY6G6C	chr6	31718648	31721845	-	ENSG00000204421.2	protein_coding	C6orf24|G6c|NG24	6p21.33	lymphocyte antigen 6 family member G6C	LY6G6C belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]
LY6G6D	chr6	31715356	31717804	+	ENSG00000244355.7	protein_coding	C6orf23|G6D|LY6-D|MEGT1|NG25	6p21.33	lymphocyte antigen 6 family member G6D	LY6G6D belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Apr 2009]
LY6G6E	chr6	31711771	31714065	-	ENSG00000255552.7	protein_coding	C6orf22|G6e	6p21.33	lymphocyte antigen 6 family member G6E	LY6G6E belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Mar 2008]
LY6G6F	chr6	31706885	31710595	+	ENSG00000204424.9	protein_coding	C6orf21|G6f|LY6G6|LY6G6D|NG32	6p21.33	lymphocyte antigen 6 family member G6F	The human G6f protein is a type I transmembrane protein belonging to the immunoglobin (Ig) superfamily, which is comprised of cell-surface proteins involved in the immune system and cellular recognition (de Vet et al., 2003 [PubMed 12852788]).[supplied by OMIM, Mar 2008]
LY6H	chr8	143157914	143160711	-	ENSG00000176956.12	protein_coding	NMLY6	8q24.3	lymphocyte antigen 6 family member H	Biased expression in brain (RPKM 15.6), stomach (RPKM 1.2) and 1 other tissue
LY6K	chr8	142700111	142705127	+	ENSG00000160886.13	protein_coding	CT97|HSJ001348|URLC10|ly-6K	8q24.3	lymphocyte antigen 6 family member K	Biased expression in testis (RPKM 9.3), fat (RPKM 2.1) and 4 other tissues
LY75	chr2	159803355	159904749	-	ENSG00000054219.10	protein_coding	CD205|CLEC13B|DEC-205|GP200-MR6|LY-75	2q24.2	lymphocyte antigen 75	Broad expression in lymph node (RPKM 17.2), appendix (RPKM 13.2) and 17 other tissues
LY86	chr6	6588108	6654983	+	ENSG00000112799.8	protein_coding	MD-1|MD1|MMD-1|dJ80N2.1	6p25.1	lymphocyte antigen 86	Biased expression in lymph node (RPKM 17.5), spleen (RPKM 16.2) and 13 other tissues
LY86-AS1	chr6	6346465	6622771	-	ENSG00000216863.9	antisense	LY86-AS|LY86AS	6p25.1	LY86 antisense RNA 1	Biased expression in brain (RPKM 2.1), fat (RPKM 0.2) and 4 other tissues
LY9	chr1	160796074	160828261	+	ENSG00000122224.17	protein_coding	CD229|SLAMF3|hly9|mLY9	1q23.3	lymphocyte antigen 9	LY9 belongs to the SLAM family of immunomodulatory receptors (see SLAMF1; MIM 603492) and interacts with the adaptor molecule SAP (SH2D1A; MIM 300490) (Graham et al., 2006 [PubMed 16365421]).[supplied by OMIM, Mar 2008]
LY96	chr8	73991352	74029087	+	ENSG00000154589.6	protein_coding	ESOP-1|MD-2|MD2|ly-96	8q21.11	lymphocyte antigen 96	This gene encodes a protein which associates with toll-like receptor 4 on the cell surface and confers responsiveness to lipopolysaccyaride (LPS), thus providing a link between the receptor and LPS signaling. Studies of the mouse ortholog suggest that this gene may be involved in endotoxin neutralization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2010]
LYAR	chr4	4267701	4290169	-	ENSG00000145220.13	protein_coding	ZC2HC2|ZLYAR	4p16.3	Ly1 antibody reactive	Broad expression in testis (RPKM 46.8), lymph node (RPKM 8.5) and 20 other tissues
LYG1	chr2	99284238	99304742	-	ENSG00000144214.9	protein_coding	LYGA1|SALW1939	2q11.2	lysozyme g1	Biased expression in kidney (RPKM 2.5), testis (RPKM 0.7) and 11 other tissues
LYG2	chr2	99242246	99255282	-	ENSG00000185674.9	protein_coding	LYGA2|LYGH|LYSG2	2q11.2	lysozyme g2	The protein encoded by this gene contains a SLT domain, a protein domain present in bacterial lytic transglycosylase (SLT) and in eukaryotic lysozymes (GEWL). SLT domain catalyzes the cleavage of the beta-1,4-glycosidic bond between N-acetylmuramic acid (MurNAc) and N-acetyglucosamine (GlcNAc). [provided by RefSeq, Jul 2008]
LYL1	chr19	13099033	13103161	-	ENSG00000104903.4	protein_coding	bHLHa18	19p13.13	LYL1 basic helix-loop-helix family member	This gene represents a basic helix-loop-helix transcription factor. The encoded protein may play roles in blood vessel maturation and hematopoeisis. A translocation between this locus and the T cell receptor beta locus (GeneID 6957) on chromosome 7 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Sep 2010]
LYN	chr8	55879813	56014168	+	ENSG00000254087.7	protein_coding	JTK8|p53Lyn|p56Lyn	8q12.1	LYN proto-oncogene, Src family tyrosine kinase	This gene encodes a tyrosine protein kinase, which maybe involved in the regulation of mast cell degranulation, and erythroid differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
LYNX1	chr8	142764334	142778224	-	ENSG00000284505.1	protein_coding	-	8q24.3	Ly6/neurotoxin 1	Broad expression in brain (RPKM 28.8), heart (RPKM 21.3) and 18 other tissues
LYPD2	chr8	142750150	142752534	-	ENSG00000197353.3	protein_coding	LYPDC2|UNQ430	8q24.3	LY6/PLAUR domain containing 2	Biased expression in esophagus (RPKM 24.8), stomach (RPKM 10.7) and 1 other tissue
LYPD3	chr19	43460787	43465660	-	ENSG00000124466.8	protein_coding	C4.4A	19q13.31	LY6/PLAUR domain containing 3	Biased expression in esophagus (RPKM 319.1) and skin (RPKM 226.0)
LYPD5	chr19	43795929	43827206	-	ENSG00000159871.14	protein_coding	PRO4356	19q13.31	LY6/PLAUR domain containing 5	Predicted to be located in extracellular region. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
LYPD6	chr2	149329985	149474148	+	ENSG00000187123.14	protein_coding	-	2q23.2	LY6/PLAUR domain containing 6	Biased expression in gall bladder (RPKM 7.3), placenta (RPKM 6.8) and 12 other tissues
LYPLA2	chr1	23790970	23795539	+	ENSG00000011009.10	protein_coding	APT-2|APT2|DJ886K2.4	1p36.11	lysophospholipase 2	Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. There are alternatively spliced transcript variants described for this gene but the full length nature is not known yet. [provided by RefSeq, Jul 2008]
LYPLAL1	chr1	219173844	219212865	+	ENSG00000143353.11	protein_coding	Q96AV0	1q41	lysophospholipase like 1	Ubiquitous expression in kidney (RPKM 3.2), heart (RPKM 2.4) and 25 other tissues
LYRM1	chr16	20899868	20925006	+	ENSG00000102897.9	protein_coding	A211C6.1	16p12.3	LYR motif containing 1	The protein encoded by this gene belongs to the mitochondrial leucine/tyrosine/arginine motif family of proteins. Proteins of this family are short polypeptides that contain a leucine/tyrosine/arginine motif near the N-terminus. This gene is widely expressed with high levels in omental adipose tissue of obese individuals. In adipose tissue, the protein is localized to the nucleus where it promotes preadipocyte proliferation and lowers the rate of apoptosis to regulate adipose tissue homeostasis. Overexpression of this gene in adipocytes causes abnormal mitochondrial morphology and mitochondrial dysfunction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
LYRM2	chr6	89568144	89638753	-	ENSG00000083099.10	protein_coding	DJ122O8.2	6q15	LYR motif containing 2	Ubiquitous expression in brain (RPKM 12.5), thyroid (RPKM 12.1) and 25 other tissues
LYRM4	chr6	5102593	5260939	-	ENSG00000214113.10	protein_coding	C6orf149|CGI-203|COXPD19|ISD11	6p25.1	LYR motif containing 4	The protein encoded by this gene is found in both mitochondria and the nucleus, where it binds cysteine desulfurase and helps free inorganic sulfur for Fe/S clusters. Disruption of this gene negatively impacts mitochondrial and cytosolic iron homeostasis. [provided by RefSeq, Sep 2016]
LYRM7	chr5	131170810	131205426	+	ENSG00000186687.15	protein_coding	C5orf31|MC3DN8|MZM1L	5q23.3-q31.1	LYR motif containing 7	Inner mitochondrial membrane complex III (CIII) is the main enzyme complex in the mitochondrial respiratory chain, and Rieske Fe-S protein (UQCRFS1) is the last catalytic subunit added to the complex. The protein encoded by this gene is a nuclear-encoded mitochondrial matrix protein that stabilizes UQCRFS1 and chaperones it to the CIII complex. Defects in this gene are a cause of mitochondrial complex III deficiency, nuclear type 8. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
LYRM9	chr17	27878314	27894752	-	ENSG00000232859.9	protein_coding	C17orf108|HSD24	17q11.2	LYR motif containing 9	Ubiquitous expression in thyroid (RPKM 12.9), brain (RPKM 12.4) and 25 other tissues
LYSMD1	chr1	151159748	151165948	-	ENSG00000163155.11	protein_coding	SB145	1q21.3	LysM domain containing 1	Ubiquitous expression in spleen (RPKM 7.3), lymph node (RPKM 5.9) and 25 other tissues
LYSMD2	chr15	51723011	51751585	-	ENSG00000140280.13	protein_coding	-	15q21.2	LysM domain containing 2	-
LYSMD3	chr5	90515611	90529584	-	ENSG00000176018.12	protein_coding	-	5q14.3	LysM domain containing 3	-
LYSMD4	chr15	99715697	99733561	-	ENSG00000183060.15	protein_coding	-	15q26.3	LysM domain containing 4	-
LYST	chr1	235661041	235883640	-	ENSG00000143669.13	protein_coding	CHS|CHS1|Mauve	1q42.3	lysosomal trafficking regulator	This gene encodes a protein that regulates intracellular protein trafficking in endosomes, and may be involved in pigmentation. Mutations in this gene are associated with Chediak-Higashi syndrome, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants, though the full-length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2013]
LYST-AS1	chr1	235839483	235840182	+	ENSG00000229463.2	antisense	LYST-IT2	1q42.3	LYST antisense RNA 1	-
LYVE1	chr11	10556966	10611689	-	ENSG00000133800.8	protein_coding	CRSBP-1|HAR|LYVE-1|XLKD1	11p15.4	lymphatic vessel endothelial hyaluronan receptor 1	This gene encodes a type I integral membrane glycoprotein. The encoded protein acts as a receptor and binds to both soluble and immobilized hyaluronan. This protein may function in lymphatic hyaluronan transport and have a role in tumor metastasis. [provided by RefSeq, Jul 2008]
LYZ	chr12	69348341	69354234	+	ENSG00000090382.6	protein_coding	LYZF1|LZM	12q15	lysozyme	This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the antimicrobial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears. The protein has antibacterial activity against a number of bacterial species. Missense mutations in this gene have been identified in heritable renal amyloidosis. [provided by RefSeq, Oct 2014]
LZIC	chr1	9922113	9943407	-	ENSG00000162441.11	protein_coding	-	1p36.22	leucine zipper and CTNNBIP1 domain containing	-
LZTFL1	chr3	45823316	45916042	-	ENSG00000163818.16	protein_coding	BBS17	3p21.31	leucine zipper transcription factor like 1	This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. [provided by RefSeq, Aug 2020]
LZTR1	chr22	20979462	20999038	+	ENSG00000099949.18	protein_coding	BTBD29|LZTR-1|NS10|NS2|SWNTS2	22q11.21|22q11.1-q11.2	leucine zipper like transcription regulator 1	This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]
LZTS1	chr8	20246165	20303963	-	ENSG00000061337.15	protein_coding	F37|FEZ1	8p21.3	leucine zipper tumor suppressor 1	This gene encodes a tumor suppressor protein that is ubiquitously expressed in normal tissues. In uveal melanomas, expression of this protein is silenced in rapidly metastasizing and metastatic tumor cells but has normal expression in slowly metastasizing or nonmetastasizing tumor cells. This protein may have a role in cell-cycle control by interacting with the Cdk1/cyclinB1 complex. This gene is located on chromosomal region 8p22. Loss of heterozygosity (LOH) in the 8p arm is a common characteristic of many types of cancer. [provided by RefSeq, Nov 2009]
LZTS2	chr10	100996618	101007836	+	ENSG00000107816.17	protein_coding	LAPSER1	10q24.31	leucine zipper tumor suppressor 2	The protein encoded by this gene belongs to the leucine zipper tumor suppressor family of proteins, which function in transcription regulation and cell cycle control. This family member can repress beta-catenin-mediated transcriptional activation and is a negative regulator of the Wnt signaling pathway. It negatively regulates microtubule severing at centrosomes, and is necessary for central spindle formation and cytokinesis completion. It is implicated in cancer, where it may inhibit cell proliferation and decrease susceptibility to tumor development. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]
LZTS3	chr20	3162617	3173592	-	ENSG00000088899.14	protein_coding	PROSAPIP1	20p13	leucine zipper tumor suppressor family member 3	Broad expression in brain (RPKM 17.2), kidney (RPKM 9.1) and 19 other tissues
M6PR	chr12	8940363	8949955	-	ENSG00000003056.7	protein_coding	CD-M6PR|CD-MPR|MPR 46|MPR-46|MPR46|SMPR	12p13.31	mannose-6-phosphate receptor, cation dependent	This gene encodes a member of the P-type lectin family. P-type lectins play a critical role in lysosome function through the specific transport of mannose-6-phosphate-containing acid hydrolases from the Golgi complex to lysosomes. The encoded protein functions as a homodimer and requires divalent cations for ligand binding. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, May 2011]
MAB21L4	chr2	 240886048	240896839	-	ENSG00000172478	protein-coding	C2orf54	2q37.3	mab-21 like 4	Biased expression in esophagus (RPKM 32.6), skin (RPKM 11.1) and 3 other tissues
MACC1	chr7	20134655	20217404	-	ENSG00000183742.12	protein_coding	7A5|SH3BP4L	7p21.1	MET transcriptional regulator MACC1	MACC1 is a key regulator of the hepatocyte growth factor (HGF; MIM 142409)-HGF receptor (HGFR, or MET; MIM 164860) pathway, which is involved in cellular growth, epithelial-mesenchymal transition, angiogenesis, cell motility, invasiveness, and metastasis. Expression of MACC1 in colon cancer (MIM 114500) specimens is an independent prognostic indicator for metastasis formation and metastasis-free survival (Stein et al., 2009 [PubMed 19098908]).[supplied by OMIM, Mar 2009]
MACF1	chr1	39081316	39487177	+	ENSG00000127603.23	protein_coding	ABP620|ACF7|LIS9|Lnc-PMIF|MACF|OFC4	1p34.3	microtubule actin crosslinking factor 1	This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]
MACIR	chr5	 103258374	103278660	+	ENSG00000181751	protein-coding	C5orf30	5q21.1	macrophage immunometabolism regulator	-
MACO1	chr1	 25430897	25500209	+	ENSG00000204178	protein-coding	MACOILIN|TMEM57	1p36.11|1p36.11	macoilin 1	Ubiquitous expression in testis (RPKM 13.0), bone marrow (RPKM 10.8) and 25 other tissues
MACROD1	chr11	63998558	64166106	-	ENSG00000133315.10	protein_coding	LRP16	11q13.1	mono-ADP ribosylhydrolase 1	Broad expression in kidney (RPKM 9.5), prostate (RPKM 2.7) and 22 other tissues
MACROD2	chr20	13995369	16053197	+	ENSG00000172264.16	protein_coding	C20orf133|C2orf133	20p12.1	mono-ADP ribosylhydrolase 2	The protein encoded by this gene is a deacetylase involved in removing ADP-ribose from mono-ADP-ribosylated proteins. The encoded protein has been shown to translocate from the nucleus to the cytoplasm upon DNA damage. [provided by RefSeq, May 2017]
MACROH2A1	chr5	 135334381	135399887	-	ENSG00000113648	protein-coding	H2A.y|H2A/y|H2AF12M|H2AFY|MACROH2A1.1|mH2A1|macroH2A1.2	5q31.1	macroH2A.1 histone	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and participates in stable X chromosome inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
MACROH2A2	chr10	 70052846	70112282	+	ENSG00000099284	protein-coding	H2AFY2	10q22.1	macroH2A.2 histone	Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and may participate in stable X chromosome inactivation. [provided by RefSeq, Oct 2015]
MAD1L1	chr7	1815793	2233243	-	ENSG00000002822.15	protein_coding	MAD1|PIG9|TP53I9|TXBP181	7p22.3	mitotic arrest deficient 1 like 1	MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
MAD2L1BP	chr6	43629540	43640952	+	ENSG00000124688.13	protein_coding	CMT2	6p21.1	MAD2L1 binding protein	The protein encoded by this gene was identified as a binding protein of the MAD2 mitotic arrest deficient-like 1 (MAD2/MAD2L1). MAD2 is a key component of the spindle checkpoint that delays the onset of anaphase until all the kinetochores are attached to the spindle. This protein may interact with the spindle checkpoint and coordinate cell cycle events in late mitosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
MAD2L2	chr1	11674480	11691650	-	ENSG00000116670.14	protein_coding	FANCV|MAD2B|POLZ2|REV7	1p36.22	mitotic arrest deficient 2 like 2	The protein encoded by this gene is a component of the mitotic spindle assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. The encoded protein, which is similar to MAD2L1, is capable of interacting with ADAM9, ADAM15, REV1, and REV3 proteins. [provided by RefSeq, Jul 2008]
MADD	chr11	47269161	47330031	+	ENSG00000110514.19	protein_coding	DEEAH|DENN|IG20|NEDDISH|RAB3GEP|RabGEF	11p11.2	MAP kinase activating death domain	Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
MAEA	chr4	1289851	1340147	+	ENSG00000090316.15	protein_coding	EMLP|EMP|GID9|HLC-10|P44EMLP|PIG5	4p16.3	macrophage erythroblast attacher, E3 ubiquitin ligase	This gene encodes a protein that mediates the attachment of erythroblasts to macrophages. This attachment promotes terminal maturation and enucleation of erythroblasts, presumably by suppressing apoptosis. The encoded protein is an integral membrane protein with the N-terminus on the extracellular side and the C-terminus on the cytoplasmic side of the cell. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
MAF	chr16	79585843	79600714	-	ENSG00000178573.6	protein_coding	AYGRP|CCA4|CTRCT21|c-MAF	16q23.2	MAF bZIP transcription factor	The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
MAF1	chr8	144104499	144107611	+	ENSG00000179632.9	protein_coding	-	8q24.3	MAF1 homolog, negative regulator of RNA polymerase III	Ubiquitous expression in fat (RPKM 39.1), ovary (RPKM 34.7) and 25 other tissues
MAFA	chr8	143419182	143430406	-	ENSG00000182759.3	protein_coding	INSDM|RIPE3b1|hMafA	8q24.3	MAF bZIP transcription factor A	MAFA is a transcription factor that binds RIPE3b, a conserved enhancer element that regulates pancreatic beta cell-specific expression of the insulin gene (INS; MIM 176730) (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM, Mar 2008]
MAFB	chr20	40685848	40689240	-	ENSG00000204103.3	protein_coding	DURS3|KRML|MCTO	20q12	MAF bZIP transcription factor B	The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells. This gene contains no introns. [provided by RefSeq, Jul 2008]
MAFF	chr22	38200767	38216511	+	ENSG00000185022.11	protein_coding	U-MAF|hMafF	22q13.1	MAF bZIP transcription factor F	The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that lacks a transactivation domain. It is known to bind the US-2 DNA element in the promoter of the oxytocin receptor (OTR) gene and most likely heterodimerizes with other leucine zipper-containing proteins to enhance expression of the OTR gene during term pregnancy. The encoded protein can also form homodimers, and since it lacks a transactivation domain, the homodimer may act as a repressor of transcription. This gene may also be involved in the cellular stress response. Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
MAFG	chr17	81918270	81927714	-	ENSG00000197063.10	protein_coding	hMAF	17q25.3	MAF bZIP transcription factor G	Globin gene expression is regulated through nuclear factor erythroid-2 (NFE2) elements located in enhancer-like locus control regions positioned many kb upstream of alpha- and beta-gene clusters (summarized by Blank et al., 1997 [PubMed 9166829]). NFE2 DNA-binding activity consists of a heterodimer containing a ubiquitous small Maf protein (MafF, MIM 604877; MafG; or MafK, MIM 600197) and the tissue-restricted protein p45 NFE2 (MIM 601490). Both subunits are members of the activator protein-1-like superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160).[supplied by OMIM, Mar 2010]
MAFK	chr7	1530714	1543043	+	ENSG00000198517.9	protein_coding	NFE2U|P18	7p22.3	MAF bZIP transcription factor K	The developmentally regulated expression of the globin genes depends on upstream regulatory elements termed locus control regions (LCRs). LCRs are associated with powerful enhancer activity that is mediated by the transcription factor NFE2 (nuclear factor erythroid-2). NFE2 recognition sites are also present in the gene promoters of 2 heme biosynthetic enzymes, porphobilinogen deaminase (PBGD; MIM 609806) and ferrochelatase (FECH; MIM 612386). NFE2 DNA-binding activity consists of a heterodimer containing an 18-kD Maf protein (MafF, MafG (MIM 602020), or MafK) and p45 (MIM 601490). Both subunits are members of the activator protein-1 superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160). Maf homodimers suppress transcription at NFE2 sites.[supplied by OMIM, Nov 2008]
MAFTRR	chr16	79715232	79770563	-	ENSG00000261390.5	lincRNA	linc-MAF-4|lincMAF4	16q23.2	MAF transcriptional regulator RNA	Broad expression in skin (RPKM 1.0), ovary (RPKM 0.9) and 18 other tissues
MAG	chr19	35292125	35313804	+	ENSG00000105695.14	protein_coding	GMA|S-MAG|SIGLEC-4A|SIGLEC4A|SPG75	19q13.12	myelin associated glycoprotein	The protein encoded by this gene is a type I membrane protein and member of the immunoglobulin superfamily. It is thought to be involved in the process of myelination. It is a lectin that binds to sialylated glycoconjugates and mediates certain myelin-neuron cell-cell interactions. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2010]
MAGED1	chrX	51803007	51902357	+	ENSG00000179222.17	protein_coding	DLXIN-1|NRAGE	Xp11.22	MAGE family member D1	This gene is a member of the melanoma antigen gene (MAGE) family. Most of the genes of this family encode tumor specific antigens that are not expressed in normal adult tissues except testis. Although the protein encoded by this gene shares strong homology with members of the MAGE family, it is expressed in almost all normal adult tissues. This gene has been demonstrated to be involved in the p75 neurotrophin receptor mediated programmed cell death pathway. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
MAGEF1	chr3	184710367	184712002	-	ENSG00000177383.4	protein_coding	MAGE-F1	3q27.1	MAGE family member F1	This intronless gene encodes a member of the MAGE superfamily. It is ubiquitously expressed in normal tissues and in tumor cells. This gene includes a microsatellite repeat in the coding region. [provided by RefSeq, Jul 2008]
MAGEL2	chr15	23643544	23647841	-	ENSG00000254585.2	protein_coding	NDNL1|PWLS|SHFYNG|nM15	15q11.2	MAGE family member L2	Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN), a gene involved in the terminal differentiation of neurons, localizes to this region of the genome and has been implicated as one of the genes responsible for the etiology of PWS. This gene is structurally similar to NDN, is also localized to the PWS chromosomal region, and is paternally imprinted, suggesting a possible role for it in PWS. [provided by RefSeq, Oct 2010]
MAGI2-AS3	chr7	79452877	79471208	+	ENSG00000234456.7	processed_transcript	-	7q21.11	MAGI2 antisense RNA 3	-
MAGI3	chr1	113390749	113685923	+	ENSG00000081026.18	protein_coding	MAGI-3|dJ730K3.2	1p13.2	membrane associated guanylate kinase, WW and PDZ domain containing 3	Broad expression in lung (RPKM 6.5), thyroid (RPKM 5.4) and 24 other tissues
MAGOH	chr1	53226892	53238610	-	ENSG00000162385.10	protein_coding	MAGOH1|MAGOHA	1p32.3	mago homolog, exon junction complex subunit	Drosophila that have mutations in their mago nashi (grandchildless) gene produce progeny with defects in germplasm assembly and germline development. This gene encodes the mammalian mago nashi homolog. In mammals, mRNA expression is not limited to the germ plasm, but is expressed ubiquitously in adult tissues and can be induced by serum stimulation of quiescent fibroblasts. [provided by RefSeq, Jul 2008]
MAGT1	chrX	77826364	77895593	-	ENSG00000102158.19	protein_coding	CDG1CC|IAP|MRX95|OST3B|PRO0756|SLC58A1|XMEN|bA217H1.1	Xq21.1	magnesium transporter 1	This gene encodes a ubiquitously expressed magnesium cation transporter protein that localizes to the cell membrane. This protein also associates with N-oligosaccharyl transferase and therefore may have a role in N-glycosylation. Mutations in this gene cause a form of X-linked intellectual disability (XLID). This gene may have multiple in-frame translation initiation sites, one of which would encode a shorter protein with an N-terminus containing a signal peptide at amino acids 1-29. [provided by RefSeq, Jul 2017]
MAILR	chr8	 102864271	102977876	+	-	ncRNA	AZIN1-AS1|MAIL1	8q22.3	macrophage interferon regulatory lncRNA	-
MAIP1	chr2	199955317	200008540	+	ENSG00000162972.10	protein_coding	C2orf47	2q33.1	matrix AAA peptidase interacting protein 1	Predicted to enable ribosome binding activity. Involved in calcium import into the mitochondrion; mitochondrial calcium ion homeostasis; and protein insertion into mitochondrial membrane. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022]
MAJIN	chr11	64937517	64972085	-	ENSG00000168070.11	protein_coding	C11orf85	11q13.1	membrane anchored junction protein	Restricted expression toward testis (RPKM 5.4)
MAK	chr6	10762723	10838555	-	ENSG00000111837.11	protein_coding	RP62	6p24.2	male germ cell associated kinase	The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
MAK16	chr8	33484750	33501260	+	ENSG00000198042.10	protein_coding	MAK16L|RBM13	8p12	MAK16 homolog	Ubiquitous expression in lymph node (RPKM 5.6), appendix (RPKM 5.5) and 25 other tissues
MAL	chr2	95025677	95053996	+	ENSG00000172005.10	protein_coding	MVP17|VIP17	2q11.1	mal, T cell differentiation protein	The protein encoded by this gene is a highly hydrophobic integral membrane protein belonging to the MAL family of proteolipids. The protein has been localized to the endoplasmic reticulum of T-cells and is a candidate linker protein in T-cell signal transduction. In addition, this proteolipid is localized in compact myelin of cells in the nervous system and has been implicated in myelin biogenesis and/or function. The protein plays a role in the formation, stabilization and maintenance of glycosphingolipid-enriched membrane microdomains. Down-regulation of this gene has been associated with a variety of human epithelial malignancies. Alternative splicing produces four transcript variants which vary from each other by the presence or absence of alternatively spliced exons 2 and 3. [provided by RefSeq, May 2012]
MAL2	chr8	119165034	119245673	+	ENSG00000147676.13	protein_coding	-	8q24.12	mal, T cell differentiation protein 2	Broad expression in esophagus (RPKM 140.3), thyroid (RPKM 100.0) and 16 other tissues
MALAT1	chr11	65497762	65506516	+	ENSG00000251562.7	lincRNA	HCN|LINC00047|NCRNA00047|NEAT2|PRO2853	11q13.1	metastasis associated lung adenocarcinoma transcript 1	This gene produces a precursor transcript from which a long non-coding RNA is derived by RNase P cleavage of a tRNA-like small ncRNA (known as mascRNA) from its 3 end. The resultant mature transcript lacks a canonical poly(A) tail but is instead stabilized by a 3 triple helical structure. This transcript is retained in the nucleus where it is thought to form molecular scaffolds for ribonucleoprotein complexes. It may act as a transcriptional regulator for numerous genes, including some genes involved in cancer metastasis and cell migration, and it is involved in cell cycle regulation. Its upregulation in multiple cancerous tissues has been associated with the proliferation and metastasis of tumor cells. [provided by RefSeq, Mar 2015]
MALINC1	chr5	 140102922	140108012	-	-	ncRNA	LINC01024|MA-linc1	5q31.3	mitosis associated long intergenic non-coding RNA 1	-
MALRD1	chr10	19048771	19790401	+	ENSG00000204740.10	protein_coding	C10orf112|DIET1|bA265G8.2	10p12.31	MAM and LDL receptor class A domain containing 1	This gene encodes a conserved protein that features multiple MAM (meprin-A5-protein tyrosine phosphatase mu) and LDLR A2 (low density lipoprotein receptor A2) domains. Expression of this gene is enriched in the small intestine and is upregulated during differentiation of a human cell line that exhibits properties of intestinal epithelial cells. The encoded protein has been shown to modulate production of FGF19 in a human intestinal cell line and may regulate bile acid metabolism in the liver. A synergistic interaction between an allele of this gene and the APOE E4 allele is associated with an elevated risk of Alzheimers disease in human patients. [provided by RefSeq, Jul 2017]
MALT1	chr18	58671386	58754477	+	ENSG00000172175.12	protein_coding	IMD12|MLT|MLT1|PCASP1	18q21.32	MALT1 paracaspase	This gene encodes a caspase-like protease that plays a role in BCL10-induced activation of NF-kappaB. The protein is a component of the CARMA1-BCL10-MALT1 (CBM) signalosome that triggers NF-kappaB signaling and lymphoctye activation following antigen-receptor stimulation. Mutations in this gene result in immunodeficiency 12 (IMD12). This gene has been found to be recurrently rearranged in chromosomal translocations with other genes in mucosa-associated lymphoid tissue lymphomas, including a t(11;18)(q21;q21) translocation with the baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) locus [BIRC3(API2)-MALT1], and a t(14;18)(q32;q21) translocation with the immunoglobulin heavy chain locus (IGH-MALT1). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, May 2018]
MAMDC2	chr9	70043581	70226970	+	ENSG00000165072.9	protein_coding	-	9q21.12	MAM domain containing 2	-
MAMDC4	chr9	136850943	136860799	+	ENSG00000177943.13	protein_coding	AEGP|EDTB	9q34.3	MAM domain containing 4	Ubiquitous expression in liver (RPKM 5.0), spleen (RPKM 4.3) and 25 other tissues
MAML1	chr5	179732850	179796511	+	ENSG00000161021.11	protein_coding	Mam-1|Mam1	5q35.3	mastermind like transcriptional coactivator 1	This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq, Jul 2008]
MAML3	chr4	139716753	140154184	-	ENSG00000196782.12	protein_coding	CAGH3|ERDA3|GDN|MAM-2|MAM2|TNRC3|mam-3	4q31.1	mastermind like transcriptional coactivator 3	Ubiquitous expression in ovary (RPKM 4.8), endometrium (RPKM 4.6) and 25 other tissues
MAMSTR	chr19	48712742	48719721	-	ENSG00000176909.11	protein_coding	MASTR	19q13.33	MEF2 activating motif and SAP domain containing transcriptional regulator	Broad expression in gall bladder (RPKM 4.3), stomach (RPKM 4.0) and 22 other tissues
MAN1A1	chr6	119177209	119349761	-	ENSG00000111885.6	protein_coding	HUMM3|HUMM9|MAN9	6q22.31	mannosidase alpha class 1A member 1	This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases. [provided by RefSeq, Jul 2012]
MAN1A2	chr1	117367449	117528872	+	ENSG00000198162.12	protein_coding	MAN1B	1p12	mannosidase alpha class 1A member 2	Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM, Mar 2008]
MAN1B1	chr9	137086927	137109187	+	ENSG00000177239.14	protein_coding	ERMAN1|ERManI|MANA-ER|MRT15	9q34.3	mannosidase alpha class 1B member 1	This gene encodes an enzyme belonging to the glycosyl hydrolase 47 family. This enzyme functions in N-glycan biosynthesis, and is a class I alpha-1,2-mannosidase that specifically converts Man9GlcNAc to Man8GlcNAc isomer B. It is required for N-glycan trimming to Man5-6GlcNAc2 in the endoplasmic-reticulum-associated degradation pathway. Mutations in this gene cause autosomal-recessive intellectual disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Dec 2011]
MAN1C1	chr1	25617468	25786207	+	ENSG00000117643.14	protein_coding	HMIC|MAN1A3|MAN1C|pp6318	1p36.11	mannosidase alpha class 1C member 1	Ubiquitous expression in kidney (RPKM 10.6), thyroid (RPKM 9.8) and 23 other tissues
MAN2A1	chr5	109689366	109869625	+	ENSG00000112893.9	protein_coding	AMan II|GOLIM7|MANA2|MANII	5q21.3	mannosidase alpha class 2A member 1	This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013]
MAN2A2	chr15	90902218	90922584	+	ENSG00000196547.14	protein_coding	MANA2X	15q26.1	mannosidase alpha class 2A member 2	Ubiquitous expression in bone marrow (RPKM 28.4), brain (RPKM 21.1) and 25 other tissues
MAN2B1	chr19	12646511	12666742	-	ENSG00000104774.12	protein_coding	LAMAN|MANB	19p13.13	mannosidase alpha class 2B member 1	This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. Its activity is necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover and it is member of family 38 of glycosyl hydrolases. The full length protein is processed in two steps. First, a 49 aa leader sequence is cleaved off and the remainder of the protein is processed into 3 peptides of 70 kDa, 42 kDa (D) and 13/15 kDa (E). Next, the 70 kDa peptide is further processed into three peptides (A, B and C). The A, B and C peptides are disulfide-linked. Defects in this gene have been associated with lysosomal alpha-mannosidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
MAN2B2	chr4	6575175	6623362	+	ENSG00000013288.8	protein_coding	-	4p16.1	mannosidase alpha class 2B member 2	-
MAN2C1	chr15	75355207	75368630	-	ENSG00000140400.16	protein_coding	MAN6A8|MANA|MANA1	15q24.2	mannosidase alpha class 2C member 1	Ubiquitous expression in fat (RPKM 23.4), ovary (RPKM 23.0) and 25 other tissues
MANBA	chr4	102631488	102760994	-	ENSG00000109323.8	protein_coding	MANB1	4q24	mannosidase beta	This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]
MANBAL	chr20	37289638	37317260	+	ENSG00000101363.12	protein_coding	-	20q11.23	mannosidase beta like	-
MANEA	chr6	95577543	95609457	+	ENSG00000172469.15	protein_coding	ENDO|hEndo	6q16.1	mannosidase endo-alpha	N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM, Sep 2008]
MANEAL	chr1	37793802	37801137	+	ENSG00000185090.14	protein_coding	-	1p34.3	mannosidase endo-alpha like	-
MANF	chr3	51385047	51389397	+	ENSG00000145050.15	protein_coding	ARMET|ARP	3p21.2	mesencephalic astrocyte derived neurotrophic factor	The protein encoded by this gene is localized in the endoplasmic reticulum (ER) and golgi, and is also secreted. Reducing expression of this gene increases susceptibility to ER stress-induced death and results in cell proliferation. Activity of this protein is important in promoting the survival of dopaminergic neurons. The presence of polymorphisms in the N-terminal arginine-rich region, including a specific mutation that changes an ATG start codon to AGG, have been reported in a variety of solid tumors; however, these polymorphisms were later shown to exist in normal tissues and are thus no longer thought to be tumor-related. [provided by RefSeq, Apr 2014]
MANSC1	chr12	12326056	12350541	-	ENSG00000111261.13	protein_coding	9130403P13Rik|LOH12CR3	12p13.2	MANSC domain containing 1	Ubiquitous expression in salivary gland (RPKM 15.1), esophagus (RPKM 14.1) and 25 other tissues
MANSC4	chr12	27762738	27771276	-	ENSG00000205693.3	protein_coding	-	12p11.22	MANSC domain containing 4	-
MAOA	chrX	43654907	43746824	+	ENSG00000189221.9	protein_coding	BRNRS|MAO-A	Xp11.3	monoamine oxidase A	This gene is one of two neighboring gene family members that encode mitochondrial enzymes which catalyze the oxidative deamination of amines, such as dopamine, norepinephrine, and serotonin. Mutation of this gene results in Brunner syndrome. This gene has also been associated with a variety of other psychiatric disorders, including antisocial behavior. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]
MAP1A	chr15	43510958	43531620	+	ENSG00000166963.12	protein_coding	MAP1L|MTAP1A	15q15.3	microtubule associated protein 1A	This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008]
MAP1B	chr5	72107234	72209570	+	ENSG00000131711.14	protein_coding	FUTSCH|MAP5|PPP1R102|PVNH9	5q13.2	microtubule associated protein 1B	This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1B heavy chain and LC1 light chain. Gene knockout studies of the mouse microtubule-associated protein 1B gene suggested an important role in development and function of the nervous system. [provided by RefSeq, Jul 2008]
MAP1LC3A	chr20	34546854	34560345	+	ENSG00000101460.12	protein_coding	ATG8E|LC3|LC3A|MAP1ALC3|MAP1BLC3	20q11.22	microtubule associated protein 1 light chain 3 alpha	MAP1A and MAP1B are microtubule-associated proteins which mediate the physical interactions between microtubules and components of the cytoskeleton. MAP1A and MAP1B each consist of a heavy chain subunit and multiple light chain subunits. The protein encoded by this gene is one of the light chain subunits and can associate with either MAP1A or MAP1B. Two transcript variants encoding different isoforms have been found for this gene. The expression of variant 1 is suppressed in many tumor cell lines, suggesting that may be involved in carcinogenesis. [provided by RefSeq, Feb 2012]
MAP1LC3B	chr16	87383995	87404779	+	ENSG00000140941.12	protein_coding	ATG8F|LC3B|MAP1A/1BLC3|MAP1LC3B-a	16q24.2	microtubule associated protein 1 light chain 3 beta	 The product of this gene is a subunit of neuronal microtubule-associated MAP1A and MAP1B proteins, which are involved in microtubule assembly and important for neurogenesis. Studies on the rat homolog implicate a role for this gene in autophagy, a process that involves the bulk degradation of cytoplasmic component. [provided by RefSeq, Jul 2008]
MAP1LC3B2	chr12	116548105	116576448	+	ENSG00000258102.3	protein_coding	ATG8G	12q24.22	microtubule associated protein 1 light chain 3 beta 2	Ubiquitous expression in bone marrow (RPKM 28.8), brain (RPKM 18.9) and 25 other tissues
MAP1S	chr19	17719242	17734516	+	ENSG00000130479.10	protein_coding	BPY2IP1|C19orf5|MAP8|VCY2IP-1|VCY2IP1	19p13.11	microtubule associated protein 1S	Broad expression in testis (RPKM 11.7), brain (RPKM 7.0) and 25 other tissues
MAP2	chr2	209424058	209734118	+	ENSG00000078018.19	protein_coding	MAP-2|MAP2A|MAP2B|MAP2C	2q34	microtubule associated protein 2	This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The products of similar genes in rat and mouse are neuron-specific cytoskeletal proteins that are enriched in dentrites, implicating a role in determining and stabilizing dentritic shape during neuron development. A number of alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2010]
MAP2K1	chr15	66386817	66492312	+	ENSG00000169032.9	protein_coding	CFC3|MAPKK1|MEK1|MEL|MKK1|PRKMK1	15q22.31	mitogen-activated protein kinase kinase 1	The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008]
MAP2K2	chr19	4090321	4124129	-	ENSG00000126934.13	protein_coding	CFC4|MAPKK2|MEK2|MKK2|PRKMK2	19p13.3	mitogen-activated protein kinase kinase 2	The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, cognitive disability, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008]
MAP2K3	chr17	21284672	21315240	+	ENSG00000034152.18	protein_coding	MAPKK3|MEK3|MKK3|PRKMK3|SAPKK-2|SAPKK2	17p11.2	mitogen-activated protein kinase kinase 3	The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase is activated by mitogenic and environmental stress, and participates in the MAP kinase-mediated signaling cascade. It phosphorylates and thus activates MAPK14/p38-MAPK. This kinase can be activated by insulin, and is necessary for the expression of glucose transporter. Expression of RAS oncogene is found to result in the accumulation of the active form of this kinase, which thus leads to the constitutive activation of MAPK14, and confers oncogenic transformation of primary cells. The inhibition of this kinase is involved in the pathogenesis of Yersina pseudotuberculosis. Multiple alternatively spliced transcript variants that encode distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]
MAP2K4	chr17	12020824	12143830	+	ENSG00000065559.14	protein_coding	JNKK|JNKK1|MAPKK4|MEK4|MKK4|PRKMK4|SAPKK-1|SAPKK1|SEK1|SERK1|SKK1	17p12	mitogen-activated protein kinase kinase 4	This gene encodes a member of the mitogen-activated protein kinase (MAPK) family. Members of this family act as an integration point for multiple biochemical signals and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation, and development. They form a three-tiered signaling module composed of MAPKKKs, MAPKKs, and MAPKs. This protein is phosphorylated at serine and threonine residues by MAPKKKs and subsequently phosphorylates downstream MAPK targets at threonine and tyrosine residues. A similar protein in mouse has been reported to play a role in liver organogenesis. A pseudogene of this gene is located on the long arm of chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
MAP2K5	chr15	67542709	67807123	+	ENSG00000137764.19	protein_coding	HsT17454|MAPKK5|MEK5|PRKMK5	15q23	mitogen-activated protein kinase kinase 5	The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been described. [provided by RefSeq, May 2011]
MAP2K6	chr17	69414698	69543331	+	ENSG00000108984.13	protein_coding	MAPKK6|MEK6|MKK6|PRKMK6|SAPKK-3|SAPKK3	17q24.3	mitogen-activated protein kinase kinase 6	This gene encodes a member of the dual specificity protein kinase family, which functions as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein phosphorylates and activates p38 MAP kinase in response to inflammatory cytokines or environmental stress. As an essential component of p38 MAP kinase mediated signal transduction pathway, this gene is involved in many cellular processes such as stress induced cell cycle arrest, transcription activation and apoptosis. [provided by RefSeq, Jul 2008]
MAP2K7	chr19	7903843	7914478	+	ENSG00000076984.17	protein_coding	JNKK2|MAPKK7|MEK|MEK 7|MKK7|PRKMK7|SAPKK-4|SAPKK4	19p13.2	mitogen-activated protein kinase kinase 7	The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically activates MAPK8/JNK1 and MAPK9/JNK2, and this kinase itself is phosphorylated and activated by MAP kinase kinase kinases including MAP3K1/MEKK1, MAP3K2/MEKK2,MAP3K3/MEKK5, and MAP4K2/GCK. This kinase is involved in the signal transduction mediating the cell responses to proinflammatory cytokines, and environmental stresses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
MAP3K1	chr5	56815574	56896152	+	ENSG00000095015.5	protein_coding	MAPKKK1|MEKK|MEKK 1|MEKK1|SRXY6	5q11.2	mitogen-activated protein kinase kinase kinase 1	The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]
MAP3K10	chr19	40191744	40215575	+	ENSG00000130758.7	protein_coding	MEKK10|MLK2|MST	19q13.2	mitogen-activated protein kinase kinase kinase 10	The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase has been shown to activate MAPK8/JNK and MKK4/SEK1, and this kinase itself can be phoshorylated, and thus activated by JNK kinases. This kinase functions preferentially on the JNK signaling pathway, and is reported to be involved in nerve growth factor (NGF) induced neuronal apoptosis. [provided by RefSeq, Jul 2008]
MAP3K11	chr11	65597755	65615382	-	ENSG00000173327.7	protein_coding	MEKK11|MLK-3|MLK3|PTK1|SPRK	11q13.1	mitogen-activated protein kinase kinase kinase 11	The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase contains a SH3 domain and a leucine zipper-basic motif. This kinase preferentially activates MAPK8/JNK kinase, and functions as a positive regulator of JNK signaling pathway. This kinase can directly phosphorylate, and activates IkappaB kinase alpha and beta, and is found to be involved in the transcription activity of NF-kappaB mediated by Rho family GTPases and CDC42. [provided by RefSeq, Jul 2008]
MAP3K12	chr12	53479669	53500063	-	ENSG00000139625.12	protein_coding	DLK|MEKK12|MUK|ZPK|ZPKP1	12q13.13	mitogen-activated protein kinase kinase kinase 12	This gene encodes a member of the serine/threonine protein kinase family. This kinase contains a leucine-zipper domain and is predominately expressed in neuronal cells. The phosphorylation state of this kinase in synaptic terminals was shown to be regulated by membrane depolarization via calcineurin. This kinase forms heterodimers with leucine zipper containing transcription factors, such as cAMP responsive element binding protein (CREB) and MYC, and thus may play a regulatory role in PKA or retinoic acid induced neuronal differentiation. Alternatively spliced transcript variants encoding different proteins have been described.[provided by RefSeq, Jul 2010]
MAP3K13	chr3	185282941	185489097	+	ENSG00000073803.13	protein_coding	LZK|MEKK13|MLK	3q27.2	mitogen-activated protein kinase kinase kinase 13	The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase contains a dual leucine-zipper motif, and has been shown to form dimers/oligomers through its leucine-zipper motif. This kinase can phosphorylate and activate MAPK8/JNK, MAP2K7/MKK7, which suggests a role in the JNK signaling pathway. [provided by RefSeq, Jul 2008]
MAP3K14	chr17	45263121	45317040	-	ENSG00000006062.14	protein_coding	FTDCR1B|HS|HSNIK|NIK	17q21.31	mitogen-activated protein kinase kinase kinase 14	This gene encodes mitogen-activated protein kinase kinase kinase 14, which is a serine/threonine protein-kinase. This kinase binds to TRAF2 and stimulates NF-kappaB activity. It shares sequence similarity with several other MAPKK kinases. It participates in an NF-kappaB-inducing signalling cascade common to receptors of the tumour-necrosis/nerve-growth factor (TNF/NGF) family and to the interleukin-1 type-I receptor. [provided by RefSeq, Jul 2008]
MAP3K14-AS1	chr17	45247925	45268630	+	ENSG00000267278.5	antisense	-	17q21.31	MAP3K14 antisense RNA 1	-
MAP3K19	chr2	134964491	135047468	-	ENSG00000176601.12	protein_coding	RCK|YSK4	2q21.3	mitogen-activated protein kinase kinase kinase 19	Biased expression in testis (RPKM 2.7), lung (RPKM 0.8) and 1 other tissue
MAP3K2	chr2	127298730	127388465	-	ENSG00000169967.16	protein_coding	MEKK2|MEKK2B	2q14.3	mitogen-activated protein kinase kinase kinase 2	The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase preferentially activates other kinases involved in the MAP kinase signaling pathway. This kinase has been shown to directly phosphorylate and activate Ikappa B kinases, and thus plays a role in NF-kappa B signaling pathway. This kinase has also been found to bind and activate protein kinase C-related kinase 2, which suggests its involvement in a regulated signaling process. [provided by RefSeq, Jul 2008]
MAP3K20	chr2	173075435	173268010	+	ENSG00000091436.16	protein_coding	AZK|CNM6|MLK7|MLT|MLTK|MLTKalpha|MLTKbeta|MRK|SFMMP|ZAK|mlklak|pk	2q31.1	mitogen-activated protein kinase kinase kinase 20	This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
MAP3K3	chr17	63622415	63696303	+	ENSG00000198909.7	protein_coding	MAPKKK3|MEKK3	17q23.3	mitogen-activated protein kinase kinase kinase 3	This gene product is a 626-amino acid polypeptide that is 96.5% identical to mouse Mekk3. Its catalytic domain is closely related to those of several other kinases, including mouse Mekk2, tobacco NPK, and yeast Ste11. Northern blot analysis revealed a 4.6-kb transcript that appears to be ubiquitously expressed. This protein directly regulates the stress-activated protein kinase (SAPK) and extracellular signal-regulated protein kinase (ERK) pathways by activating SEK and MEK1/2 respectively; it does not regulate the p38 pathway. In cotransfection assays, it enhanced transcription from a nuclear factor kappa-B (NFKB)-dependent reporter gene, consistent with a role in the SAPK pathway. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
MAP3K4	chr6	160991727	161117385	+	ENSG00000085511.19	protein_coding	MAPKKK4|MEKK 4|MEKK4|MTK1|PRO0412	6q26	mitogen-activated protein kinase kinase kinase 4	The central core of each mitogen-activated protein kinase (MAPK) pathway is a conserved cascade of 3 protein kinases: an activated MAPK kinase kinase (MAPKKK) phosphorylates and activates a specific MAPK kinase (MAPKK), which then activates a specific MAPK. While the ERK MAPKs are activated by mitogenic stimulation, the CSBP2 and JNK MAPKs are activated by environmental stresses such as osmotic shock, UV irradiation, wound stress, and inflammatory factors. This gene encodes a MAPKKK, the MEKK4 protein, also called MTK1. This protein contains a protein kinase catalytic domain at the C terminus. The N-terminal nonkinase domain may contain a regulatory domain. Expression of MEKK4 in mammalian cells activated the CSBP2 and JNK MAPK pathways, but not the ERK pathway. In vitro kinase studies indicated that recombinant MEKK4 can specifically phosphorylate and activate PRKMK6 and SERK1, MAPKKs that activate CSBP2 and JNK, respectively but cannot phosphorylate PRKMK1, an MAPKK that activates ERKs. MEKK4 is a major mediator of environmental stresses that activate the CSBP2 MAPK pathway, and a minor mediator of the JNK pathway. Several alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, May 2014]
MAP3K5	chr6	136557047	136792518	-	ENSG00000197442.9	protein_coding	ASK1|MAPKKK5|MEKK5	6q23.3	mitogen-activated protein kinase kinase kinase 5	Mitogen-activated protein kinase (MAPK) signaling cascades include MAPK or extracellular signal-regulated kinase (ERK), MAPK kinase (MKK or MEK), and MAPK kinase kinase (MAPKKK or MEKK). MAPKK kinase/MEKK phosphorylates and activates its downstream protein kinase, MAPK kinase/MEK, which in turn activates MAPK. The kinases of these signaling cascades are highly conserved, and homologs exist in yeast, Drosophila, and mammalian cells. MAPKKK5 contains 1,374 amino acids with all 11 kinase subdomains. Northern blot analysis shows that MAPKKK5 transcript is abundantly expressed in human heart and pancreas. The MAPKKK5 protein phosphorylates and activates MKK4 (aliases SERK1, MAPKK4) in vitro, and activates c-Jun N-terminal kinase (JNK)/stress-activated protein kinase (SAPK) during transient expression in COS and 293 cells; MAPKKK5 does not activate MAPK/ERK. [provided by RefSeq, Jul 2008]
MAP3K6	chr1	27355184	27366892	-	ENSG00000142733.14	protein_coding	ASK2|MAPKKK6|MEKK6	1p36.11	mitogen-activated protein kinase kinase kinase 6	This gene encodes a serine/threonine protein kinase that forms a component of protein kinase-mediated signal transduction cascades. The encoded kinase participates in the regulation of vascular endothelial growth factor (VEGF) expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
MAP3K7	chr6	90513573	90587045	-	ENSG00000135341.17	protein_coding	CSCF|FMD2|MEKK7|TAK1|TGF1a	6q15	mitogen-activated protein kinase kinase kinase 7	The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase mediates the signaling transduction induced by TGF beta and morphogenetic protein (BMP), and controls a variety of cell functions including transcription regulation and apoptosis. In response to IL-1, this protein forms a kinase complex including TRAF6, MAP3K7P1/TAB1 and MAP3K7P2/TAB2; this complex is required for the activation of nuclear factor kappa B. This kinase can also activate MAPK8/JNK, MAP2K4/MKK4, and thus plays a role in the cell response to environmental stresses. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
MAP3K7CL	chr21	29077471	29175889	+	ENSG00000156265.15	protein_coding	C21orf7|HC21ORF7|TAK1L|TAKL|TAKL-1|TAKL-2|TAKL-4	21q21.3	MAP3K7 C-terminal like	Ubiquitous expression in heart (RPKM 4.1), prostate (RPKM 2.4) and 24 other tissues
MAP3K8	chr10	30433937	30461833	+	ENSG00000107968.9	protein_coding	AURA2|COT|EST|ESTF|MEKK8|TPL2|Tpl-2|c-COT	10p11.23	mitogen-activated protein kinase kinase kinase 8	This gene is an oncogene that encodes a member of the serine/threonine protein kinase family. The encoded protein localizes to the cytoplasm and can activate both the MAP kinase and JNK kinase pathways. This protein was shown to activate IkappaB kinases, and thus induce the nuclear production of NF-kappaB. This protein was also found to promote the production of TNF-alpha and IL-2 during T lymphocyte activation. This gene may also utilize a downstream in-frame translation start codon, and thus produce an isoform containing a shorter N-terminus. The shorter isoform has been shown to display weaker transforming activity. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]
MAP3K9	chr14	70722526	70809534	-	ENSG00000006432.15	protein_coding	MEKK9|MLK1|PRKE1	14q24.2	mitogen-activated protein kinase kinase kinase 9	Broad expression in brain (RPKM 3.6), testis (RPKM 3.0) and 22 other tissues
MAP4	chr3	47850690	48089272	-	ENSG00000047849.21	protein_coding	-	3p21.31	microtubule associated protein 4	Ubiquitous expression in heart (RPKM 53.7), brain (RPKM 28.3) and 23 other tissues
MAP4K2	chr11	64784914	64803241	-	ENSG00000168067.11	protein_coding	BL44|GCK|RAB8IP	11q13.1	mitogen-activated protein kinase kinase kinase kinase 2	The protein encoded by this gene is a member of the serine/threonine protein kinase family. Although this kinase is found in many tissues, its expression in lymphoid follicles is restricted to the cells of germinal centre, where it may participate in B-cell differentiation. This kinase can be activated by TNF-alpha, and has been shown to specifically activate MAP kinases. This kinase is also found to interact with TNF receptor-associated factor 2 (TRAF2), which is involved in the activation of MAP3K1/MEKK1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
MAP4K3	chr2	39249266	39437312	-	ENSG00000011566.14	protein_coding	GLK|MAPKKKK3|MEKKK 3|MEKKK3|RAB8IPL1	2p22.1	mitogen-activated protein kinase kinase kinase kinase 3	This gene encodes a member of the mitogen-activated protein kinase kinase kinase kinase family. The encoded protein activates key effectors in cell signalling, among them c-Jun. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
MAP4K4	chr2	101696850	101894689	+	ENSG00000071054.16	protein_coding	FLH21957|HEL-S-31|HGK|MEKKK4|NIK	2q11.2	mitogen-activated protein kinase kinase kinase kinase 4	The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase has been shown to specifically activate MAPK8/JNK. The activation of MAPK8 by this kinase is found to be inhibited by the dominant-negative mutants of MAP3K7/TAK1, MAP2K4/MKK4, and MAP2K7/MKK7, which suggests that this kinase may function through the MAP3K7-MAP2K4-MAP2K7 kinase cascade, and mediate the TNF-alpha signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
MAP4K5	chr14	50418501	50561126	-	ENSG00000012983.11	protein_coding	GCKR|KHS|KHS1|MAPKKKK5	14q22.1	mitogen-activated protein kinase kinase kinase kinase 5	This gene encodes a member of the serine/threonine protein kinase family, that is highly similar to yeast SPS1/STE20 kinase. Yeast SPS1/STE20 functions near the beginning of the MAP kinase signal cascades that is essential for yeast pheromone response. This kinase was shown to activate Jun kinase in mammalian cells, which suggested a role in stress response. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
MAP6	chr11	75586918	75669120	-	ENSG00000171533.11	protein_coding	MAP6-N|MTAP6|N-STOP|STOP	11q13.5	microtubule associated protein 6	This gene encodes a microtubule-associated protein. The encoded protein is a calmodulin-binding and calmodulin-regulated protein that is involved in microtubule stabilization. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
MAP6D1	chr3	183815876	183825594	-	ENSG00000180834.7	protein_coding	MAPO6D1|SL21	3q27.1	MAP6 domain containing 1	This gene encodes a protein highly similar to the mouse MAP6 domain containing 1 protein, which is related to the STOP proteins. Based on the study of the mouse protein, the encoded protein may function as a calmodulin-regulated neuronal protein that binds and stabilizes microtubules but also associates with the Golgi membranes through N-terminal palmitoylation. [provided by RefSeq, Oct 2008]
MAP7	chr6	136342281	136550819	-	ENSG00000135525.18	protein_coding	E-MAP-115|EMAP115	6q23.3	microtubule associated protein 7	The product of this gene is a microtubule-associated protein that is predominantly expressed in cells of epithelial origin. Microtubule-associated proteins are thought to be involved in microtubule dynamics, which is essential for cell polarization and differentiation. This protein has been shown to be able to stabilize microtubules, and may serve to modulate microtubule functions. Studies of the related mouse protein also suggested an essential role in microtubule function required for spermatogenesis. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
MAP7D1	chr1	36155579	36180849	+	ENSG00000116871.15	protein_coding	PARCC1|RPRC1	1p34.3	MAP7 domain containing 1	Ubiquitous expression in fat (RPKM 43.2), brain (RPKM 39.0) and 24 other tissues
MAP9	chr4	155342658	155376970	-	ENSG00000164114.18	protein_coding	ASAP	4q32.1	microtubule associated protein 9	ASAP is a microtubule-associated protein required for spindle function, mitotic progression, and cytokinesis (Saffin et al., 2005 [PubMed 16049101]).[supplied by OMIM, Mar 2008]
MAPK1	chr22	21754500	21867680	-	ENSG00000100030.14	protein_coding	ERK|ERK-2|ERK2|ERT1|MAPK2|NS13|P42MAPK|PRKM1|PRKM2|p38|p40|p41|p41mapk|p42-MAPK	22q11.22	mitogen-activated protein kinase 1	This gene encodes a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The activation of this kinase requires its phosphorylation by upstream kinases. Upon activation, this kinase translocates to the nucleus of the stimulated cells, where it phosphorylates nuclear targets. One study also suggests that this protein acts as a transcriptional repressor independent of its kinase activity. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Two alternatively spliced transcript variants encoding the same protein, but differing in the UTRs, have been reported for this gene. [provided by RefSeq, Jan 2014]
MAPK10	chr4	86010395	86594131	-	ENSG00000109339.19	protein_coding	JNK3|JNK3A|PRKM10|SAPK1b|p493F12|p54bSAPK	4q21.3	mitogen-activated protein kinase 10	The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system, and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]
MAPK11	chr22	50263713	50270767	-	ENSG00000185386.14	protein_coding	P38B|P38BETA2|PRKM11|SAPK2|SAPK2B|p38-2|p38Beta	22q13.33	mitogen-activated protein kinase 11	This gene encodes a member of a family of protein kinases that are involved in the integration of biochemical signals for a wide variety of cellular processes, including cell proliferation, differentiation, transcriptional regulation, and development. The encoded protein can be activated by proinflammatory cytokines and environmental stresses through phosphorylation by mitogen activated protein kinase kinases (MKKs). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
MAPK12	chr22	50245450	50261825	-	ENSG00000188130.13	protein_coding	ERK-6|ERK3|ERK6|MAPK 12|P38GAMMA|PRKM12|SAPK-3|SAPK3	22q13.33	mitogen-activated protein kinase 12	Activation of members of the mitogen-activated protein kinase family is a major mechanism for transduction of extracellular signals. Stress-activated protein kinases are one subclass of MAP kinases. The protein encoded by this gene functions as a signal transducer during differentiation of myoblasts to myotubes. [provided by RefSeq, Jul 2008]
MAPK13	chr6	36127809	36144524	+	ENSG00000156711.16	protein_coding	MAPK 13|MAPK-13|PRKM13|SAPK4|p38delta	6p21.31	mitogen-activated protein kinase 13	This gene encodes a member of the mitogen-activated protein (MAP) kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. The encoded protein is a p38 MAP kinase and is activated by proinflammatory cytokines and cellular stress. Substrates of the encoded protein include the transcription factor ATF2 and the microtubule dynamics regulator stathmin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
MAPK14	chr6	36027677	36111236	+	ENSG00000112062.10	protein_coding	CSBP|CSBP1|CSBP2|CSPB1|EXIP|Mxi2|PRKM14|PRKM15|RK|SAPK2A|p38|p38ALPHA	6p21.31	mitogen-activated protein kinase 14	The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various environmental stresses and proinflammatory cytokines. The activation requires its phosphorylation by MAP kinase kinases (MKKs), or its autophosphorylation triggered by the interaction of MAP3K7IP1/TAB1 protein with this kinase. The substrates of this kinase include transcription regulator ATF2, MEF2C, and MAX, cell cycle regulator CDC25B, and tumor suppressor p53, which suggest the roles of this kinase in stress related transcription and cell cycle regulation, as well as in genotoxic stress response. Four alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
MAPK15	chr8	143716259	143722458	+	ENSG00000181085.14	protein_coding	ERK7|ERK8	8q24.3	mitogen-activated protein kinase 15	Biased expression in lung (RPKM 5.3), testis (RPKM 4.6) and 9 other tissues
MAPK1IP1L	chr14	55051631	55070192	+	ENSG00000168175.14	protein_coding	C14orf32|MISS|c14_5346	14q22.3	mitogen-activated protein kinase 1 interacting protein 1 like	Ubiquitous expression in bone marrow (RPKM 15.9), kidney (RPKM 10.1) and 25 other tissues
MAPK3	chr16	30114105	30123506	-	ENSG00000102882.11	protein_coding	ERK-1|ERK1|ERT2|HS44KDAP|HUMKER1A|P44ERK1|P44MAPK|PRKM3|p44-ERK1|p44-MAPK	16p11.2	mitogen-activated protein kinase 3	The protein encoded by this gene is a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act in a signaling cascade that regulates various cellular processes such as proliferation, differentiation, and cell cycle progression in response to a variety of extracellular signals. This kinase is activated by upstream kinases, resulting in its translocation to the nucleus where it phosphorylates nuclear targets. Alternatively spliced transcript variants encoding different protein isoforms have been described. [provided by RefSeq, Jul 2008]
MAPK4	chr18	50560078	50731824	+	ENSG00000141639.11	protein_coding	ERK-4|ERK4|PRKM4|p63-MAPK|p63MAPK	18q21.1-q21.2	mitogen-activated protein kinase 4	Mitogen-activated protein kinase 4 is a member of the mitogen-activated protein kinase family. Tyrosine kinase growth factor receptors activate mitogen-activated protein kinases which then translocate into the nucleus and phosphorylate nuclear targets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
MAPK6	chr15	51952106	52067372	+	ENSG00000069956.11	protein_coding	ERK3|HsT17250|PRKM6|p97MAPK	15q21.2	mitogen-activated protein kinase 6	The protein encoded by this gene is a member of the Ser/Thr protein kinase family, and is most closely related to mitogen-activated protein kinases (MAP kinases). MAP kinases also known as extracellular signal-regulated kinases (ERKs), are activated through protein phosphorylation cascades and act as integration points for multiple biochemical signals. This kinase is localized in the nucleus, and has been reported to be activated in fibroblasts upon treatment with serum or phorbol esters. [provided by RefSeq, Jul 2008]
MAPK7	chr17	19377721	19383544	+	ENSG00000166484.19	protein_coding	BMK1|ERK4|ERK5|PRKM7	17p11.2	mitogen-activated protein kinase 7	The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is specifically activated by mitogen-activated protein kinase kinase 5 (MAP2K5/MEK5). It is involved in the downstream signaling processes of various receptor molecules including receptor type kinases, and G protein-coupled receptors. In response to extracelluar signals, this kinase translocates to cell nucleus, where it regulates gene expression by phosphorylating, and activating different transcription factors. Four alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
MAPK8	chr10	48306639	48439360	+	ENSG00000107643.15	protein_coding	JNK|JNK-46|JNK1|JNK1A2|JNK21B1/2|PRKM8|SAPK1|SAPK1c	10q11.22	mitogen-activated protein kinase 8	The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is activated by various cell stimuli, and targets specific transcription factors, and thus mediates immediate-early gene expression in response to cell stimuli. The activation of this kinase by tumor-necrosis factor alpha (TNF-alpha) is found to be required for TNF-alpha induced apoptosis. This kinase is also involved in UV radiation induced apoptosis, which is thought to be related to cytochrom c-mediated cell death pathway. Studies of the mouse counterpart of this gene suggested that this kinase play a key role in T cell proliferation, apoptosis and differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Apr 2016]
MAPK8IP1	chr11	45885651	45906465	+	ENSG00000121653.11	protein_coding	IB1|JIP-1|JIP1|PRKM8IP	11p11.2	mitogen-activated protein kinase 8 interacting protein 1	This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and to decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. [provided by RefSeq, May 2011]
MAPK8IP1P1	chr17	46243606	46245044	+	ENSG00000262500.1	processed_pseudogene	MAPK8IPP|PRKM8IPP	17q21.31	mitogen-activated protein kinase 8 interacting protein 1 pseudogene 1	-
MAPK8IP1P2	chr17	45600869	45602340	-	ENSG00000263503.1	processed_pseudogene	-	17q21.31	mitogen-activated protein kinase 8 interacting protein 1 pseudogene 2	-
MAPK8IP2	chr22	50600685	50613981	+	ENSG00000008735.13	protein_coding	IB-2|IB2|JIP2|PRKM8IPL	22q13.33	mitogen-activated protein kinase 8 interacting protein 2	This gene encodes a scaffold protein that is thought to be involved in the regulation of the c-Jun amino-terminal kinase signaling pathway. This protein has been shown to interact with and regulate the activity of MAPK8/JNK1 and MAP2K7/MKK7 kinases. [provided by RefSeq, Jun 2017]
MAPK8IP3	chr16	1706183	1770317	+	ENSG00000138834.12	protein_coding	JIP-3|JIP3|JSAP1|NEDBA|SYD2|syd	16p13.3	mitogen-activated protein kinase 8 interacting protein 3	The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
MAPK9	chr5	180233143	180292099	-	ENSG00000050748.17	protein_coding	JNK-55|JNK2|JNK2A|JNK2ALPHA|JNK2B|JNK2BETA|PRKM9|SAPK|SAPK1a|p54a|p54aSAPK	5q35.3	mitogen-activated protein kinase 9	The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase targets specific transcription factors, and thus mediates immediate-early gene expression in response to various cell stimuli. It is most closely related to MAPK8, both of which are involved in UV radiation induced apoptosis, thought to be related to the cytochrome c-mediated cell death pathway. This gene and MAPK8 are also known as c-Jun N-terminal kinases. This kinase blocks the ubiquitination of tumor suppressor p53, and thus it increases the stability of p53 in nonstressed cells. Studies of this genes mouse counterpart suggest a key role in T-cell differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Sep 2008]
MAPKAP1	chr9	125437393	125707234	-	ENSG00000119487.16	protein_coding	JC310|MIP1|SIN1|SIN1b|SIN1g	9q33.3	MAPK associated protein 1	This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been described. Alternate polyadenylation sites as well as alternate 3 UTRs have been identified for transcripts of this gene. [provided by RefSeq, Jul 2008]
MAPKAPK2	chr1	206684944	206734283	+	ENSG00000162889.10	protein_coding	MAPKAP-K2|MK-2|MK2	1q32.1	MAPK activated protein kinase 2	This gene encodes a member of the Ser/Thr protein kinase family. This kinase is regulated through direct phosphorylation by p38 MAP kinase. In conjunction with p38 MAP kinase, this kinase is known to be involved in many cellular processes including stress and inflammatory responses, nuclear export, gene expression regulation and cell proliferation. Heat shock protein HSP27 was shown to be one of the substrates of this kinase in vivo. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
MAPKAPK3	chr3	50611520	50649297	+	ENSG00000114738.10	protein_coding	3PK|MAPKAP-K3|MAPKAP3|MAPKAPK-3|MDPT3|MK-3|MK3	3p21.2	MAPK activated protein kinase 3	This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]
MAPKAPK5	chr12	111841978	111902238	+	ENSG00000089022.13	protein_coding	MAPKAP-K5|MK-5|MK5|PRAK	12q24.12-q24.13	MAPK activated protein kinase 5	The protein encoded by this gene is a tumor suppressor and member of the serine/threonine kinase family. In response to cellular stress and proinflammatory cytokines, this kinase is activated through its phosphorylation by MAP kinases including MAPK1/ERK, MAPK14/p38-alpha, and MAPK11/p38-beta. The encoded protein is found in the nucleus but translocates to the cytoplasm upon phosphorylation and activation. This kinase phosphorylates heat shock protein HSP27 at its physiologically relevant sites. Two alternately spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Nov 2012]
MAPKAPK5-AS1	chr12	111839764	111842902	-	ENSG00000234608.7	lincRNA	C12orf47	12q24.12	MAPKAPK5 antisense RNA 1	Ubiquitous expression in colon (RPKM 6.8), lymph node (RPKM 5.9) and 25 other tissues
MAPKBP1	chr15	41774434	41827855	+	ENSG00000137802.13	protein_coding	JNKBP-1|JNKBP1|NPHP20	15q15.1	mitogen-activated protein kinase binding protein 1	This gene encodes a scaffold protein that regulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding oligomerization domain-containing protein 2) signaling pathways. The encoded protein interacts with another related JNK pathway scaffold protein, WDR62, via a conserved dimerization domain, and enhances JNK signaling. This protein may play a role in bacterial immunity by binding to the NOD2 receptor and negatively regulating downstream antibacterial and pro-inflammatory signaling. Mutations in this gene that impair cellular localization of the encoded protein cause a form of nephronophthisis, an autosomal-recessive kidney disorder, in human patients. [provided by RefSeq, May 2017]
MAPRE1	chr20	32819893	32850405	+	ENSG00000101367.8	protein_coding	EB1	20q11.21	microtubule associated protein RP/EB family member 1	The protein encoded by this gene was first identified by its binding to the APC protein which is often mutated in familial and sporadic forms of colorectal cancer. This protein localizes to microtubules, especially the growing ends, in interphase cells. During mitosis, the protein is associated with the centrosomes and spindle microtubules. The protein also associates with components of the dynactin complex and the intermediate chain of cytoplasmic dynein. Because of these associations, it is thought that this protein is involved in the regulation of microtubule structures and chromosome stability. This gene is a member of the RP/EB family. [provided by RefSeq, Jul 2008]
MAPRE2	chr18	34976928	35143470	+	ENSG00000166974.12	protein_coding	CSCSC2|EB1|EB2|RP1	18q12.1-q12.2	microtubule associated protein RP/EB family member 2	The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene family. This protein is a microtubule-associated protein that is necessary for spindle symmetry during mitosis. It is thought to play a role in the tumorigenesis of colorectal cancers and the proliferative control of normal cells. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
MAPRE3	chr2	26970612	27027196	+	ENSG00000084764.10	protein_coding	EB3|EBF3|EBF3-S|RP3	2p23.3	microtubule associated protein RP/EB family member 3	 The protein encoded by this gene is a member of the RP/EB family of genes.  The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. [provided by RefSeq, Jul 2008]
MAPT	chr17	45894382	46028334	+	ENSG00000186868.15	protein_coding	DDPAC|FTDP-17|MAPTL|MSTD|MTBT1|MTBT2|PPND|PPP1R103|TAU|tau-40	17q21.31	microtubule associated protein tau	This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimers disease, Picks disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008]
MAPT-AS1	chr17	45799390	45895630	-	ENSG00000264589.2	antisense	-	17q21.31	MAPT antisense RNA 1	Biased expression in brain (RPKM 1.4), testis (RPKM 0.7) and 2 other tissues
MAPT-IT1	chr17	45895783	45898798	+	ENSG00000279685.2	sense_intronic	-	17q21.31	MAPT intronic transcript 1	-
MARCHF2	chr19	 8413305	8439017	+	ENSG00000099785	protein-coding	HSPC240|MARCH-II|MARCH2|RNF172	19p13.2	membrane associated ring-CH-type finger 2	MARCH2 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH2 reduces surface accumulation of several glycoproteins and appears to regulate early endosome-to-trans-Golgi network (TGN) trafficking (Bartee et al., 2004 [PubMed 14722266]; Nakamura et al., 2005 [PubMed 15689499]).[supplied by OMIM, Mar 2010]
MARCHF3	chr5	 126867714	127030558	-	ENSG00000173926	protein-coding	MARCH-III|MARCH3|RNF173	5q23.2	membrane associated ring-CH-type finger 3	This gene encodes a member of the membrane-associated RING-CH (MARCH) family. The encoded protein is an E3 ubiquitin-protein ligase that may be involved in regulation of the endosomal transport pathway. [provided by RefSeq, Mar 2013]
MARCHF5	chr10	 92291167	92353964	+	ENSG00000198060	protein-coding	MARCH-V|MARCH5|MITOL|RNF153	10q23.32-q23.33	membrane associated ring-CH-type finger 5	MARCH5 is a ubiquitin ligase of the mitochondrial outer membrane that plays a role in the control of mitochondrial morphology by regulating mitofusin-2 (MFN2; MIM 608507) and DRP1 (DNM1L; MIM 603850) (Nakamura et al., 2006 [PubMed 16936636]).[supplied by OMIM, Mar 2008]
MARCHF7	chr2	 159712506	159771027	+	ENSG00000136536	protein-coding	AXO|AXOT|MARCH-VII|MARCH7|RNF177	2q24.2	membrane associated ring-CH-type finger 7	MARCH7 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Mar 2010]
MARCHF8	chr10	 45454585	45594907	-	ENSG00000165406	protein-coding	CMIR|MARCH-VIII|MARCH8|MIR|RNF178|c-MIR	10q11.21-q11.22	membrane associated ring-CH-type finger 8	MARCH8 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH8 induces the internalization of several membrane glycoproteins (Goto et al., 2003 [PubMed 12582153]; Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010]
MARCHF9	chr12	 57755103	57760411	+	ENSG00000139266	protein-coding	MARCH-IX|MARCH9|RNF179	12q14.1	membrane associated ring-CH-type finger 9	MARCH9 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH9 induces internalization of several membrane glycoproteins and directs them to the endosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Hoer et al., 2007 [PubMed 17174307]).[supplied by OMIM, Apr 2010]
MARCKS	chr6	113857362	113863471	+	ENSG00000277443.2	protein_coding	80K-L|MACS|PKCSL|PRKCSL	6q21	myristoylated alanine rich protein kinase C substrate	The protein encoded by this gene is a substrate for protein kinase C. It is localized to the plasma membrane and is an actin filament crosslinking protein. Phosphorylation by protein kinase C or binding to calcium-calmodulin inhibits its association with actin and with the plasma membrane, leading to its presence in the cytoplasm. The protein is thought to be involved in cell motility, phagocytosis, membrane trafficking and mitogenesis. [provided by RefSeq, Jul 2008]
MARCKSL1	chr1	32333832	32336379	-	ENSG00000175130.6	protein_coding	F52|MACMARCKS|MLP|MLP1|MRP	1p35.1	MARCKS like 1	This gene encodes a member of the myristoylated alanine-rich C-kinase substrate (MARCKS) family. Members of this family play a role in cytoskeletal regulation, protein kinase C signaling and calmodulin signaling. The encoded protein affects the formation of adherens junction. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on the long arm of chromosomes 6 and 10. [provided by RefSeq, Jun 2012]
MARCKSL1P1	chr10	103175554	103176094	+	ENSG00000213277.3	processed_pseudogene	-	10q24.33	MARCKS like 1 pseudogene 1	-
MARCO	chr2	118942166	118994660	+	ENSG00000019169.10	protein_coding	SCARA2|SR-A6	2q14.2	macrophage receptor with collagenous structure	The protein encoded by this gene is a member of the class A scavenger receptor family and is part of the innate antimicrobial immune system. The protein may bind both Gram-negative and Gram-positive bacteria via an extracellular, C-terminal, scavenger receptor cysteine-rich (SRCR) domain. In addition to short cytoplasmic and transmembrane domains, there is an extracellular spacer domain and a long, extracellular collagenous domain. The protein may form a trimeric molecule by the association of the collagenous domains of three identical polypeptide chains. [provided by RefSeq, Jul 2008]
MARF1	chr16	 15594387	15643154	-	ENSG00000166783	protein-coding	KIAA0430|LKAP|LMKB|PPP1R34	16p13.11	meiosis regulator and mRNA stability factor 1	This gene encodes a putative peroxisomal protein that appears to be conserved across Euteleostomi. In humans, it may be autoantigenic. [provided by RefSeq, Jul 2010]
MARK1	chr1	220528183	220664461	+	ENSG00000116141.15	protein_coding	MARK|Par-1c|Par1c	1q41	microtubule affinity regulating kinase 1	Broad expression in brain (RPKM 4.9), testis (RPKM 3.5) and 21 other tissues
MARK2	chr11	63838928	63911019	+	ENSG00000072518.20	protein_coding	EMK-1|EMK1|PAR-1|Par-1b|Par1b	11q13.1	microtubule affinity regulating kinase 2	This gene encodes a member of the Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stability of microtubules through phosphorylation and inactivation of several microtubule-associating proteins. The protein localizes to cell membranes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
MARK2P6	chr3	128852112	128853008	-	ENSG00000242062.1	processed_pseudogene	-	3q21.3	microtubule affinity regulating kinase 2 pseudogene 6	-
MARK2P8	chr3	128748538	128749489	-	ENSG00000239503.1	processed_pseudogene	-	3q21.3	microtubule affinity regulating kinase 2 pseudogene 8	-
MARK2P9	chr10	92418667	92420875	+	ENSG00000232709.1	processed_pseudogene	-	10q23.33	microtubule affinity regulating kinase 2 pseudogene 9	-
MARK3	chr14	103385392	103503831	+	ENSG00000075413.17	protein_coding	CTAK1|KP78|PAR1A|Par-1a|VIPB	14q32.32-q32.33	microtubule affinity regulating kinase 3	The protein encoded by this gene is activated by phosphorylation and in turn is involved in the phosphorylation of tau proteins MAP2 and MAP4. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
MARK4	chr19	45079288	45305283	+	ENSG00000007047.14	protein_coding	MARK4L|MARK4S|MARKL1|MARKL1L|PAR-1D	19q13.32	microtubule affinity regulating kinase 4	This gene encodes a member of the microtubule affinity-regulating kinase family. These protein kinases phosphorylate microtubule-associated proteins and regulate the transition between stable and dynamic microtubules. The encoded protein is associated with the centrosome throughout mitosis and may be involved in cell cycle control. Expression of this gene is a potential marker for cancer, and the encoded protein may also play a role in Alzheimers disease. Pseudogenes of this gene are located on both the short and long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
MARS1	chr12	 57488068	57516652	+	ENSG00000166986	protein-coding	CMT2U|ILFS2|ILLD|MARS|METRS|MRS|MTRNS|SPG70	12q13.3	methionyl-tRNA synthetase 1	This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded protein is a component of the multi-tRNA synthetase complex and catalyzes the ligation of methionine to tRNA molecules. [provided by RefSeq, Jan 2011]
MARS2	chr2	197705369	197708387	+	ENSG00000247626.4	protein_coding	COXPD25|MetRS|mtMetRS	2q33.1	methionyl-tRNA synthetase 2, mitochondrial	This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSeq, Apr 2014]
MARVELD1	chr10	97713173	97718152	+	ENSG00000155254.12	protein_coding	GB14|MARVD1|MRVLDC1|bA548K23.8	10q24.2	MARVEL domain containing 1	Ubiquitous expression in endometrium (RPKM 25.0), ovary (RPKM 20.1) and 23 other tissues
MARVELD2	chr5	69415112	69444330	+	ENSG00000152939.14	protein_coding	DFNB49|MARVD2|MRVLDC2|Tric	5q13.2	MARVEL domain containing 2	The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
MARVELD3	chr16	71626161	71642114	+	ENSG00000140832.9	protein_coding	MARVD3|MRVLDC3	16q22.2	MARVEL domain containing 3	Broad expression in small intestine (RPKM 6.8), colon (RPKM 6.5) and 18 other tissues
MAS1	chr6	159906690	159916530	+	ENSG00000130368.5	protein_coding	MAS|MGRA	6q25.3	MAS1 proto-oncogene, G protein-coupled receptor	This gene encodes a class I seven-transmembrane G-protein-coupled receptor. The encoded protein is a receptor for angiotensin-(1-7) and preferentially couples to the Gq protein, activating the phospholipase C signaling pathway. The encoded protein may play a role in multiple processes including hypotension, smooth muscle relaxation and cardioprotection by mediating the effects of angiotensin-(1-7). [provided by RefSeq, May 2012]
MAS1L	chr6	29486697	29487956	-	ENSG00000204687.4	protein_coding	MAS-L|MRG|dJ994E9.2	6p22.1	MAS1 proto-oncogene like, G protein-coupled receptor	-
MAS1LP1	chr6	29475025	29476071	-	ENSG00000230164.1	unprocessed_pseudogene	MAS1LP	6p22.1	MAS1L pseudogene 1	-
MASP1	chr3	187217285	187292022	-	ENSG00000127241.16	protein_coding	3MC1|CRARF|CRARF1|MAP-1|MAP1|MASP|MASP-3|MASP3|MAp44|PRSS5|RaRF	3q27.3	MBL associated serine protease 1	This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]
MASP2	chr1	11026523	11047233	-	ENSG00000009724.16	protein_coding	MAP-2|MAP19|MASP-2|MASP1P1|sMAP	1p36.22	MBL associated serine protease 2	This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system. The encoded protease also plays a role in the coagulation cascade through cleavage of prothrombin to form thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
MAST1	chr19	12833951	12874951	+	ENSG00000105613.9	protein_coding	MCCCHCM|SAST	19p13.13	microtubule associated serine/threonine kinase 1	This gene is a member of the microtubule-associated serine/threonine kinase (MAST) family. The protein encoded by this gene has an N-terminal serine/threonine kinase domain followed by a postsynaptic density protein-95/discs large/zona occludens-1 (PDZ) domain. In mouse and rat, the orthologous protein associates with the cytoskeleton and can bind both beta-2-syntrophin and neuronal nitric oxide synthase (nNOS) through its PDZ domain. In mouse and rat, this protein also co-localizes with dystrophin- and utrophin-associated protein complexes (DAPC/UAPC) in the vascular endothelium of the central nervous system. [provided by RefSeq, May 2017]
MAST2	chr1	45786987	46036124	+	ENSG00000086015.20	protein_coding	MAST205|MTSSK	1p34.1	microtubule associated serine/threonine kinase 2	Broad expression in testis (RPKM 25.4), heart (RPKM 11.8) and 23 other tissues
MAST3	chr19	18097793	18151692	+	ENSG00000099308.10	protein_coding	-	19p13.11	microtubule associated serine/threonine kinase 3	-
MAST4	chr5	66596361	67169595	+	ENSG00000069020.18	protein_coding	-	5q12.3	microtubule associated serine/threonine kinase family member 4	Ubiquitous expression in esophagus (RPKM 3.2), fat (RPKM 2.7) and 23 other tissues
MAST4-AS1	chr5	67001383	67003953	-	ENSG00000229666.1	antisense	-	5q12.3	MAST4 antisense RNA 1	-
MASTL	chr10	27154824	27186924	+	ENSG00000120539.14	protein_coding	GREATWALL|GW|GWL|MAST-L|THC2	10p12.1	microtubule associated serine/threonine kinase like	This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Feb 2010]
MAT1A	chr10	80271820	80289684	-	ENSG00000151224.12	protein_coding	MAT|MATA1|SAMS|SAMS1	10q22.3	methionine adenosyltransferase 1A	This gene catalyzes a two-step reaction that involves the transfer of the adenosyl moiety of ATP to methionine to form S-adenosylmethionine and tripolyphosphate, which is subsequently cleaved to PPi and Pi. S-adenosylmethionine is the source of methyl groups for most biological methylations. The encoded protein is found as a homotetramer (MAT I) or a homodimer (MAT III) whereas a third form, MAT II (gamma), is encoded by the MAT2A gene. Mutations in this gene are associated with methionine adenosyltransferase deficiency. [provided by RefSeq, Jul 2008]
MAT2A	chr2	85539165	85545280	+	ENSG00000168906.12	protein_coding	MATA2|MATII|SAMS2	2p11.2	methionine adenosyltransferase 2A	The protein encoded by this gene catalyzes the production of S-adenosylmethionine (AdoMet) from methionine and ATP. AdoMet is the key methyl donor in cellular processes. [provided by RefSeq, Jun 2011]
MATK	chr19	3777970	3802129	-	ENSG00000007264.14	protein_coding	CHK|CTK|HHYLTK|HYL|HYLTK|Lsk	19p13.3	megakaryocyte-associated tyrosine kinase	The protein encoded by this gene has amino acid sequence similarity to Csk tyrosine kinase and has the structural features of the CSK subfamily: SRC homology SH2 and SH3 domains, a catalytic domain, a unique N terminus, lack of myristylation signals, lack of a negative regulatory phosphorylation site, and lack of an autophosphorylation site. This protein is thought to play a significant role in the signal transduction of hematopoietic cells. It is able to phosphorylate and inactivate Src family kinases, and may play an inhibitory role in the control of T-cell proliferation. This protein might be involved in signaling in some cases of breast cancer. Three alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
MATN1	chr1	30711277	30723587	-	ENSG00000162510.5	protein_coding	CMP|CRTM	1p35.2	matrilin 1	This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008]
MATN1-AS1	chr1	30718504	30726827	+	ENSG00000186056.9	antisense	-	1p35.2	MATN1 antisense RNA 1	-
MATN2	chr8	97868840	98036716	+	ENSG00000132561.13	protein_coding	-	8q22.1-q22.2	matrilin 2	Broad expression in thyroid (RPKM 133.8), placenta (RPKM 60.9) and 20 other tissues
MATN3	chr2	19992111	20012694	-	ENSG00000132031.12	protein_coding	DIPOA|EDM5|HOA|OADIP|OS2|SEMDBCD	2p24.1	matrilin 3	This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]
MATN4	chr20	45293445	45308529	-	ENSG00000124159.15	protein_coding	-	20q13.12	matrilin 4	Biased expression in pancreas (RPKM 6.7), skin (RPKM 0.9) and 2 other tissues
MATR3	chr5	139273752	139331671	+	ENSG00000280987.4	protein_coding	ALS21|MPD2|VCPDM	5q31.2	matrin 3	This gene encodes a nuclear matrix protein, which is proposed to stabilize certain messenger RNA species. Mutations of this gene are associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts composed of the upstream small nucleolar RNA host gene 4 (non-protein coding) and matrin 3 gene sequence, have been identified. Pseudogenes of this gene are located on chromosomes 1 and X. [provided by RefSeq, Aug 2013]
MAU2	chr19	19320681	19358755	+	ENSG00000129933.20	protein_coding	KIAA0892|MAU2L|SCC4|mau-2	19p13.11	MAU2 sister chromatid cohesion factor	Ubiquitous expression in testis (RPKM 14.5), ovary (RPKM 12.1) and 25 other tissues
MAVS	chr20	3846799	3876123	+	ENSG00000088888.17	protein_coding	CARDIF|IPS-1|IPS1|VISA	20p13	mitochondrial antiviral signaling protein	This gene encodes an intermediary protein necessary in the virus-triggered beta interferon signaling pathways. It is required for activation of transcription factors which regulate expression of beta interferon and contributes to antiviral innate immunity. [provided by RefSeq, Jul 2020]
MAX	chr14	65006174	65102695	-	ENSG00000125952.18	protein_coding	bHLHd4	14q23.3	MYC associated factor X	The protein encoded by this gene is a member of the basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. It is able to form homodimers and heterodimers with other family members, which include Mad, Mxi1 and Myc. Myc is an oncoprotein implicated in cell proliferation, differentiation and apoptosis. The homodimers and heterodimers compete for a common DNA target site (the E box) and rearrangement among these dimer forms provides a complex system of transcriptional regulation. Mutations of this gene have been reported to be associated with hereditary pheochromocytoma. A pseudogene of this gene is located on the long arm of chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
MAZ	chr16	29806106	29811164	+	ENSG00000103495.13	protein_coding	PUR1|Pur-1|SAF-1|SAF-2|SAF-3|ZF87|ZNF801|Zif87	16p11.2	MYC associated zinc finger protein	Ubiquitous expression in bone marrow (RPKM 38.3), colon (RPKM 34.1) and 25 other tissues
MB21D2	chr3	192796815	192918161	-	ENSG00000180611.6	protein_coding	C3orf59	3q29	Mab-21 domain containing 2	Enables cadherin binding activity. [provided by Alliance of Genome Resources, Apr 2022]
MBD1	chr18	50266882	50281774	-	ENSG00000141644.17	protein_coding	CXXC3|PCM1|RFT	18q21.1	methyl-CpG binding domain protein 1	The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains multiple domains: MBD at the N-terminus that functions both in binding to methylated DNA and in protein interactions; several CXXC-type zinc finger domains that mediate binding to non-methylated CpG dinucleotides; transcriptional repression domain (TRD) at the C-terminus that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Feb 2011]
MBD2	chr18	54151601	54224788	-	ENSG00000134046.11	protein_coding	DMTase|NY-CO-41	18q21.2	methyl-CpG binding domain protein 2	DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. The protein encoded by this gene may function as a mediator of the biological consequences of the methylation signal. It is also reported that the this protein functions as a demethylase to activate transcription, as DNA methylation causes gene silencing. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
MBD3	chr19	1573596	1592801	-	ENSG00000071655.17	protein_coding	-	19p13.3	methyl-CpG binding domain protein 3	Ubiquitous expression in placenta (RPKM 23.4), fat (RPKM 18.3) and 25 other tissues
MBD4	chr3	129430944	129440179	-	ENSG00000129071.9	protein_coding	MED1	3q21.3	methyl-CpG binding domain 4, DNA glycosylase	The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
MBD5	chr2	148021011	148516971	+	ENSG00000204406.12	protein_coding	MRD1	2q23.1	methyl-CpG binding domain protein 5	This gene encodes a member of the methyl-CpG-binding domain (MBD) family. The MBD consists of about 70 residues and is the minimal region required for a methyl-CpG-binding protein binding specifically to methylated DNA. In addition to the MBD domain, this protein contains a PWWP domain (Pro-Trp-Trp-Pro motif), which consists of 100-150 amino acids and is found in numerous proteins that are involved in cell division, growth and differentiation. Mutations in this gene cause an autosomal dominant type of cognitive disability. The encoded protein interacts with the polycomb repressive complex PR-DUB which catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this gene is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Alternatively spliced transcript variants have been found, but their full-length nature is not determined. [provided by RefSeq, Jul 2017]
MBD6	chr12	57520710	57530148	+	ENSG00000166987.14	protein_coding	-	12q13.3	methyl-CpG binding domain protein 6	-
MBIP	chr14	36298558	36320676	-	ENSG00000151332.18	protein_coding	-	14q13.3	MAP3K12 binding inhibitory protein 1	-
MBL3P	chr10	79582298	79584877	-	ENSG00000219430.2	unprocessed_pseudogene	COLEC2|MBL	10q22.3	mannose-binding lectin family member 3, pseudogene	-
MBLAC1	chr7	100126694	100128498	+	ENSG00000214309.4	protein_coding	-	7q22.1	metallo-beta-lactamase domain containing 1	-
MBLAC2	chr5	90458203	90474768	-	ENSG00000176055.9	protein_coding	-	5q14.3	metallo-beta-lactamase domain containing 2	-
MBNL1	chr3	152243828	152465780	+	ENSG00000152601.17	protein_coding	EXP|MBNL	3q25.1-q25.2	muscleblind like splicing regulator 1	This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015]
MBNL1-AS1	chr3	152262616	152269555	-	ENSG00000229619.3	antisense	-	3q25.1	MBNL1 antisense RNA 1	-
MBNL2	chr13	97221434	97394120	+	ENSG00000139793.18	protein_coding	MBLL|MBLL39|PRO2032	13q32.1	muscleblind like splicing regulator 2	This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012]
MBNL3	chrX	132369317	132489968	-	ENSG00000076770.14	protein_coding	CHCR|MBLX|MBLX39|MBXL	Xq26.2	muscleblind like splicing regulator 3	This gene encodes a member of the muscleblind-like family of proteins. The encoded protein may function in regulation of alternative splicing and may play a role in the pathophysiology of myotonic dystrophy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]
MBOAT1	chr6	20102145	20212399	-	ENSG00000172197.10	protein_coding	LPEAT1|LPLAT|LPLAT 1|LPSAT|OACT1|dJ434O11.1	6p22.3	membrane bound O-acyltransferase domain containing 1	This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A translocation disrupting this gene may be associated with brachydactyly syndactyly syndrome. Alternately spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]
MBOAT2	chr2	8852690	9003813	-	ENSG00000143797.11	protein_coding	LPAAT|LPCAT|LPCAT4|LPEAT|LPLAT 2|OACT2	2p25.1	membrane bound O-acyltransferase domain containing 2	Broad expression in bone marrow (RPKM 14.5), brain (RPKM 13.4) and 23 other tissues
MBOAT4	chr8	30131824	30144686	-	ENSG00000177669.3	protein_coding	FKSG89|GOAT|OACT4	8p12	membrane bound O-acyltransferase domain containing 4	Biased expression in stomach (RPKM 1.5), gall bladder (RPKM 0.4) and 10 other tissues
MBOAT7	chr19	54173412	54189882	-	ENSG00000125505.16	protein_coding	BB1|LENG4|LPIAT|LPLAT|LRC4|MBOA7|MRT57|OACT7|hMBOA-7	19q13.42	membrane bound O-acyltransferase domain containing 7	This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
MBP	chr18	76978827	77133683	-	ENSG00000197971.14	protein_coding	-	18q23	myelin basic protein	Note: MBP (Gene ID: 4155) and MBL2 (Gene ID: 4153) share the MBP symbol/alias in common. MBP is a widely used alternative name for mannose binding lectin 2 (MBL2), which can be confused with the official symbol for MBP (myelin basic protein, GeneID 4155). [01 Jun 2018]
MBTD1	chr17	51177425	51260163	-	ENSG00000011258.15	protein_coding	SA49P01	17q21.33	mbt domain containing 1	Broad expression in testis (RPKM 15.1), skin (RPKM 6.1) and 25 other tissues
MBTPS1	chr16	84053761	84116906	-	ENSG00000140943.16	protein_coding	PCSK8|S1P|SEDKF|SKI-1	16q23.3-q24.1	membrane bound transcription factor peptidase, site 1	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014]
MBTPS2	chrX	21839636	21885424	+	ENSG00000012174.11	protein_coding	BRESEK|IFAP|KFSD|KFSDX|OI19|OLMSX|S2P	Xp22.12	membrane bound transcription factor peptidase, site 2	This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]
MC1R	chr16	89912119	89920977	+	ENSG00000258839.3	protein_coding	CMM5|MSH-R|SHEP2	16q24.3	melanocortin 1 receptor	This intronless gene encodes the receptor protein for melanocyte-stimulating hormone (MSH). The encoded protein, a seven pass transmembrane G protein coupled receptor, controls melanogenesis. Two types of melanin exist: red pheomelanin and black eumelanin. Gene mutations that lead to a loss in function are associated with increased pheomelanin production, which leads to lighter skin and hair color. Eumelanin is photoprotective but pheomelanin may contribute to UV-induced skin damage by generating free radicals upon UV radiation. Binding of MSH to its receptor activates the receptor and stimulates eumelanin synthesis. This receptor is a major determining factor in sun sensitivity and is a genetic risk factor for melanoma and non-melanoma skin cancer. Over 30 variant alleles have been identified which correlate with skin and hair color, providing evidence that this gene is an important component in determining normal human pigment variation. [provided by RefSeq, Jul 2008]
MC4R	chr18	60371110	60372775	-	ENSG00000166603.4	protein_coding	BMIQ20	18q21.32	melanocortin 4 receptor	The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an intronless gene. Defects in this gene are a cause of autosomal dominant obesity. [provided by RefSeq, Jan 2010]
MCAM	chr11	119308529	119321521	-	ENSG00000076706.16	protein_coding	CD146|HEMCAM|METCAM|MUC18|MelCAM	11q23.3	melanoma cell adhesion molecule	Broad expression in fat (RPKM 237.1), placenta (RPKM 102.0) and 17 other tissues
MCAT	chr22	43132206	43143394	-	ENSG00000100294.12	protein_coding	FASN2C|MCT|MCT1|MT|NET62|fabD	22q13.2	malonyl-CoA-acyl carrier protein transacylase	The protein encoded by this gene is found exclusively in the mitochondrion, where it catalyzes the transfer of a malonyl group from malonyl-CoA to the mitochondrial acyl carrier protein. The encoded protein may be part of a fatty acid synthase complex that is more like the type II prokaryotic and plastid complexes rather than the type I human cytosolic complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2012]
MCC	chr5	113022099	113488830	-	ENSG00000171444.17	protein_coding	MCC1	5q22.2	MCC regulator of WNT signaling pathway	This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
MCCC1	chr3	183015218	183116075	-	ENSG00000078070.12	protein_coding	MCC-B|MCCA|MCCCalpha	3q27.1	methylcrotonyl-CoA carboxylase subunit 1	This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq, Jul 2008]
MCCC2	chr5	71587288	71658704	+	ENSG00000131844.15	protein_coding	MCCB|MCCCbeta	5q13.2	methylcrotonyl-CoA carboxylase subunit 2	This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]
MCCD1	chr6	31528717	31530232	+	ENSG00000204511.2	protein_coding	-	6p21.33	mitochondrial coiled-coil domain 1	-
MCCD1P1	chr6	29907783	29908645	-	ENSG00000235963.1	unprocessed_pseudogene	-	6p22.1	mitochondrial coiled-coil domain 1 pseudogene 1	-
MCCD1P2	chr6	29994437	29995314	-	ENSG00000224312.1	unprocessed_pseudogene	BPG309N1.16	6p22.1	mitochondrial coiled-coil domain 1 pseudogene 2	-
MCEE	chr2	71109684	71130239	-	ENSG00000124370.10	protein_coding	GLOD2|MCE|MMCE	2p13.3	methylmalonyl-CoA epimerase	The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008]
MCEMP1	chr19	7676628	7679826	+	ENSG00000183019.7	protein_coding	C19orf59	19p13.2	mast cell expressed membrane protein 1	This gene encodes a single-pass transmembrane protein. Based on its expression pattern, it is speculated to be involved in regulating mast cell differentiation or immune responses. [provided by RefSeq, Jul 2008]
MCF2L	chr13	112894378	113099739	+	ENSG00000126217.20	protein_coding	ARHGEF14|DBS|OST	13q34	MCF.2 cell line derived transforming sequence like	This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
MCF2L2	chr3	183178043	183428778	-	ENSG00000053524.12	protein_coding	ARHGEF22	3q27.1	MCF.2 cell line derived transforming sequence-like 2	Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of catalytic activity. [provided by Alliance of Genome Resources, Apr 2022]
MCFD2	chr2	46901870	46941855	-	ENSG00000180398.11	protein_coding	F5F8D|F5F8D2|LMAN1IP|SDNSF	2p21	multiple coagulation factor deficiency 2, ER cargo receptor complex subunit	This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LMAN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3 UTR of this gene contains a transposon-like human repeat element named THE 1. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2016]
MCFD2P1	chr6	27407697	27407996	+	ENSG00000237154.2	processed_pseudogene	C6orf44|MCFD2L|NUCB2-L|dJ153G14.2	6p22.1	multiple coagulation factor deficiency 2 pseudogene 1	-
MCHR1	chr22	40678750	40682814	+	ENSG00000128285.4	protein_coding	GPR24|MCH-1R|MCH1R|SLC-1|SLC1	22q13.2	melanin concentrating hormone receptor 1	The protein encoded by this gene, a member of the G protein-coupled receptor family 1, is an integral plasma membrane protein which binds melanin-concentrating hormone. The encoded protein can inhibit cAMP accumulation and stimulate intracellular calcium flux, and is probably involved in the neuronal regulation of food consumption. Although structurally similar to somatostatin receptors, this protein does not seem to bind somatostatin. [provided by RefSeq, Jul 2008]
MCIDAS	chr5	55219614	55227315	-	ENSG00000234602.7	protein_coding	CILD42|IDAS|MCI|MCIN	5q11.2	multiciliate differentiation and DNA synthesis associated cell cycle protein	This gene encodes a member of the geminin family of proteins. The encoded nuclear protein is required for the generation of multiciliated cells in respiratory epithelium. Mutations in this gene cause a rare mucociliary clearance disorder associated with recurring respiratory infections in human patients, known as reduced generation of multiple motile cilia (RGMC). [provided by RefSeq, Sep 2016]
MCL1	chr1	150574551	150579738	-	ENSG00000143384.12	protein_coding	BCL2L3|EAT|MCL1-ES|MCL1L|MCL1S|Mcl-1|TM|bcl2-L-3|mcl1/EAT	1q21.2	MCL1 apoptosis regulator, BCL2 family member	This gene encodes an anti-apoptotic protein, which is a member of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoform 1) enhances cell survival by inhibiting apoptosis while the alternatively spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-inducing. [provided by RefSeq, Oct 2010]
MCM3	chr6	52264009	52284881	-	ENSG00000112118.18	protein_coding	HCC5|P1-MCM3|P1.h|RLFB	6p12.2	minichromosome maintenance complex component 3	The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein is a subunit of the protein complex that consists of MCM2-7. It has been shown to interact directly with MCM5/CDC46. This protein also interacts with and is acetylated by MCM3AP, a chromatin-associated acetyltransferase. The acetylation of this protein inhibits the initiation of DNA replication and cell cycle progression. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2018]
MCM3AP	chr21	46235126	46286297	-	ENSG00000160294.10	protein_coding	GANP|MAP80|PNRIID|SAC3	21q22.3	minichromosome maintenance complex component 3 associated protein	The minichromosome maintenance protein 3 (MCM3) is one of the MCM proteins essential for the initiation of DNA replication. The protein encoded by this gene is a MCM3 binding protein. It was reported to have phosphorylation-dependent DNA-primase activity, which was up-regulated in antigen immunization induced germinal center. This protein was demonstrated to be an acetyltransferase that acetylates MCM3 and plays a role in DNA replication. The mutagenesis of a nuclear localization signal of MCM3 affects the binding of this protein with MCM3, suggesting that this protein may also facilitate MCM3 nuclear localization. This gene is expressed in the brain or in neuronal tissue. An allelic variant encoding amino acid Lys at 915, instead of conserved Glu, has been identified in patients with mild intellectual disability. [provided by RefSeq, Jan 2014]
MCM3AP-AS1	chr21	46229217	46259390	+	ENSG00000215424.9	antisense	C21orf85|MCM3AP-AS|MCM3APAS|MCM3APASB|NCRNA00031	21q22.3	MCM3AP antisense RNA 1	Ubiquitous expression in lymph node (RPKM 2.9), skin (RPKM 2.8) and 25 other tissues
MCM4	chr8	47960185	47978160	+	ENSG00000104738.16	protein_coding	CDC21|CDC54|IMD54|NKCD|NKGCD|P1-CDC21|hCdc21	8q11.21	minichromosome maintenance complex component 4	The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
MCM5	chr22	35400063	35425430	+	ENSG00000100297.15	protein_coding	CDC46|MGORS8|P1-CDC46	22q12.3	minichromosome maintenance complex component 5	The protein encoded by this gene is structurally very similar to the CDC46 protein from S. cerevisiae, a protein involved in the initiation of DNA replication. The encoded protein is a member of the MCM family of chromatin-binding proteins and can interact with at least two other members of this family. The encoded protein is upregulated in the transition from the G0 to G1/S phase of the cell cycle and may actively participate in cell cycle regulation. [provided by RefSeq, Jul 2008]
MCM6	chr2	135839626	135876426	-	ENSG00000076003.4	protein_coding	MCG40308|Mis5|P105MCM	2q21.3	minichromosome maintenance complex component 6	The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of the complex by CDC2 kinase reduces the helicase activity, suggesting a role in the regulation of DNA replication. Single nucleotide polymorphisms in the intron regions of this gene are associated with differential transcriptional activation of the promoter of the neighboring lactase gene and, thereby, influence lactose intolerance in early adulthood. [provided by RefSeq, May 2012]
MCM7	chr7	100092728	100101940	-	ENSG00000166508.17	protein_coding	CDC47|MCM2|P1.1-MCM3|P1CDC47|P85MCM|PNAS146|PPP1R104	7q22.1	minichromosome maintenance complex component 7	The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 6 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. Cyclin D1-dependent kinase, CDK4, is found to associate with this protein, and may regulate the binding of this protein with the tumorsuppressor protein RB1/RB. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
MCM8	chr20	5950652	5998977	+	ENSG00000125885.13	protein_coding	C20orf154|POF10|dJ967N21.5	20p12.3	minichromosome maintenance 8 homologous recombination repair factor	The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the mini-chromosome maintenance proteins is a key component of the pre-replication complex and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the mini-chromosome maintenance proteins. The encoded protein may interact with other mini-chromosome maintenance proteins and play a role in DNA replication. This gene may be associated with length of reproductive lifespan and menopause. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013]
MCM9	chr6	118813442	118935162	-	ENSG00000111877.17	protein_coding	C6orf61|MCMDC1|ODG4|dJ329L24.1|dJ329L24.3	6q22.31	minichromosome maintenance 9 homologous recombination repair factor	The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010]
MCMBP	chr10	119829404	119892556	-	ENSG00000197771.12	protein_coding	C10orf119|MCM-BP	10q26.11	minichromosome maintenance complex binding protein	This gene encodes a protein which is a component of the hexameric minichromosome maintenance (MCM) complex which regulates initiation and elongation of DNA. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
MCOLN1	chr19	7522626	7534009	+	ENSG00000090674.15	protein_coding	MG-2|ML1|ML4|MLIV|MST080|MSTP080|TRP-ML1|TRPM-L1|TRPML1	19p13.2	mucolipin TRP cation channel 1	This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009]
MCOLN3	chr1	85018082	85048499	-	ENSG00000055732.12	protein_coding	TRP-ML3|TRPML3	1p22.3	mucolipin TRP cation channel 3	This gene encodes one of members of the mucolipin cation channel proteins. Mutation studies of the highly similar protein in mice have shown that the protein is found in cochlea hair cells, and mutant mice show early-onset hearing loss and balance problems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
MCRIP1	chr17	81822361	81833302	-	ENSG00000225663.7	protein_coding	FAM195B|GRAN2|MCRIP	17q25.3	MAPK regulated corepressor interacting protein 1	Ubiquitous expression in testis (RPKM 31.8), fat (RPKM 25.2) and 25 other tissues
MCRIP2	chr16	636817	648474	+	ENSG00000172366.19	protein_coding	C16orf14|FAM195A|c349E10.1	16p13.3	MAPK regulated corepressor interacting protein 2	Ubiquitous expression in kidney (RPKM 20.5), duodenum (RPKM 19.9) and 24 other tissues
MCRS1	chr12	49556544	49568153	-	ENSG00000187778.13	protein_coding	ICP22BP|INO80Q|MCRS2|MSP58|P78	12q13.12	microspherule protein 1	Ubiquitous expression in heart (RPKM 7.8), thyroid (RPKM 7.5) and 25 other tissues
MCTP1	chr5	94703741	95284575	-	ENSG00000175471.19	protein_coding	-	5q15	multiple C2 and transmembrane domain containing 1	-
MCTP2	chr15	94231538	94483952	+	ENSG00000140563.14	protein_coding	-	15q26.2	multiple C2 and transmembrane domain containing 2	-
MCTS2P	chr20	31547504	31548049	+	ENSG00000101898.5	processed_pseudogene	MCTS2|PSIMCT-1	20q11.21	MCTS family member 2, pseudogene	This locus represents a retrogene copy of MCTS1 (GeneID:28985) and contains an ORF similar to that parent gene. This locus is situated in a differentially methylated region (DMR) and transcripts in this region are imprinted. [provided by RefSeq, Nov 2021]
MCU	chr10	72692131	72887694	+	ENSG00000156026.14	protein_coding	C10orf42|CCDC109A|HsMCU	10q22.1	mitochondrial calcium uniporter	This gene encodes a calcium transporter that localizes to the mitochondrial inner membrane. The encoded protein interacts with mitochondrial calcium uptake 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
MCUB	chr4	109560205	109688726	+	ENSG00000005059.15	protein_coding	CCDC109B	4q25	mitochondrial calcium uniporter dominant negative subunit beta	Broad expression in lymph node (RPKM 15.3), appendix (RPKM 10.9) and 21 other tissues
MCUR1	chr6	13786557	13814568	-	ENSG00000050393.11	protein_coding	C6orf79|CCDC90A|FMP32	6p23	mitochondrial calcium uniporter regulator 1	Ubiquitous expression in thyroid (RPKM 10.8), kidney (RPKM 9.4) and 25 other tissues
MDC1	chr6	30699807	30717889	-	ENSG00000137337.14	protein_coding	NFBD1	6p21.33	mediator of DNA damage checkpoint 1	The protein encoded by this gene contains an N-terminal forkhead domain, two BRCA1 C-terminal (BRCT) motifs and a central domain with 13 repetitions of an approximately 41-amino acid sequence. The encoded protein is required to activate the intra-S phase and G2/M phase cell cycle checkpoints in response to DNA damage. This nuclear protein interacts with phosphorylated histone H2AX near sites of DNA double-strand breaks through its BRCT motifs, and facilitates recruitment of the ATM kinase and meiotic recombination 11 protein complex to DNA damage foci. [provided by RefSeq, Jul 2008]
MDFI	chr6	41636882	41654246	+	ENSG00000112559.13	protein_coding	I-MF|I-mfa	6p21.1	MyoD family inhibitor	This protein is a transcription factor that negatively regulates other myogenic family proteins. Studies of the mouse homolog, I-mf, show that it interferes with myogenic factor function by masking nuclear localization signals and preventing DNA binding. Knockout mouse studies show defects in the formation of vertebrae and ribs that also involve cartilage formation in these structures. [provided by RefSeq, Jul 2008]
MDFIC	chr7	114922154	115019202	+	ENSG00000135272.10	protein_coding	HIC|MDFIC1	7q31.1-q31.2	MyoD family inhibitor domain containing	This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG), and an in-frame, downstream AUG codon, results in the production of two isoforms, p40 and p32, respectively, which have different subcellular localization; p32 is mainly found in the cytoplasm, whereas p40 is targeted to the nucleolus. Both isoforms have transcriptional regulatory activity that is attributable to the cysteine-rich C-terminal domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
MDGA1	chr6	37630679	37699306	-	ENSG00000112139.14	protein_coding	GPIM|MAMDC3	6p21.2	MAM domain containing glycosylphosphatidylinositol anchor 1	This gene encodes a glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein that is expressed predominantly in the developing nervous system. In addition to possessing several cell adhesion molecule-like domains, the mature protein has six Ig-like domains, a single fibronectin type III domain, a MAM domain and a C-terminal GPI-anchoring site. Studies in other mammals suggest this protein plays a role in cell adhesion, migration, and axon guidance and, in the developing brain, neuronal migration. In humans, this gene is associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2016]
MDH1	chr2	63588609	63607197	+	ENSG00000014641.17	protein_coding	DEE88|EIEE88|HEL-S-32|KAR|MDH-s|MDHA|MGC:1375|MOR2	2p15	malate dehydrogenase 1	This gene encodes an enzyme that catalyzes the NAD/NADH-dependent, reversible oxidation of malate to oxaloacetate in many metabolic pathways, including the citric acid cycle. Two main isozymes are known to exist in eukaryotic cells: one is found in the mitochondrial matrix and the other in the cytoplasm. This gene encodes the cytosolic isozyme, which plays a key role in the malate-aspartate shuttle that allows malate to pass through the mitochondrial membrane to be transformed into oxaloacetate for further cellular processes. Alternatively spliced transcript variants have been found for this gene. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Pseudogenes have been identified on chromosomes X and 6. [provided by RefSeq, Feb 2016]
MDH1B	chr2	206737763	206765547	-	ENSG00000138400.12	protein_coding	RP11-95H11	2q33.3	malate dehydrogenase 1B	Biased expression in testis (RPKM 13.6), thyroid (RPKM 2.3) and 5 other tissues
MDH2	chr7	76048051	76067508	+	ENSG00000146701.11	protein_coding	DEE51|EIEE51|M-MDH|MDH|MGC:3559|MOR1	7q11.23	malate dehydrogenase 2	Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
MDK	chr11	46380756	46383837	+	ENSG00000110492.15	protein_coding	ARAP|MK|NEGF2	11p11.2	midkine	This gene encodes a member of a small family of secreted growth factors that binds heparin and responds to retinoic acid. The encoded protein promotes cell growth, migration, and angiogenesis, in particular during tumorigenesis. This gene has been targeted as a therapeutic for a variety of different disorders. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]
MDM1	chr12	68272443	68332381	-	ENSG00000111554.14	protein_coding	-	12q15	Mdm1 nuclear protein	Broad expression in testis (RPKM 7.9), endometrium (RPKM 4.1) and 24 other tissues
MDM4	chr1	204516379	204558120	+	ENSG00000198625.12	protein_coding	BMFS6|HDMX|MDMX|MRP1	1q32.1	MDM4 regulator of p53	This gene encodes a nuclear protein that contains a p53 binding domain at the N-terminus and a RING finger domain at the C-terminus, and shows structural similarity to p53-binding protein MDM2. Both proteins bind the p53 tumor suppressor protein and inhibit its activity, and have been shown to be overexpressed in a variety of human cancers. However, unlike MDM2 which degrades p53, this protein inhibits p53 by binding its transcriptional activation domain. This protein also interacts with MDM2 protein via the RING finger domain, and inhibits the latters degradation. So this protein can reverse MDM2-targeted degradation of p53, while maintaining suppression of p53 transactivation and apoptotic functions. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Feb 2011]
MDP1	chr14	24213937	24216070	-	ENSG00000213920.8	protein_coding	FN6PASE|MDP-1	14q12	magnesium dependent phosphatase 1	Ubiquitous expression in adrenal (RPKM 7.9), kidney (RPKM 7.5) and 25 other tissues
ME1	chr6	83210389	83431071	-	ENSG00000065833.8	protein_coding	HUMNDME|MES	6q14.2	malic enzyme 1	This gene encodes a cytosolic, NADP-dependent enzyme that generates NADPH for fatty acid biosynthesis. The activity of this enzyme, the reversible oxidative decarboxylation of malate, links the glycolytic and citric acid cycles. The regulation of expression for this gene is complex. Increased expression can result from elevated levels of thyroid hormones or by higher proportions of carbohydrates in the diet. [provided by RefSeq, Jul 2008]
ME2	chr18	50878734	50954257	+	ENSG00000082212.12	protein_coding	ODS1	18q21.2	malic enzyme 2	This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009]
ME3	chr11	86441108	86672636	-	ENSG00000151376.16	protein_coding	NADP-ME	11q14.2	malic enzyme 3	Malic enzyme catalyzes the oxidative decarboxylation of malate to pyruvate using either NAD+ or NADP+ as a cofactor. Mammalian tissues contain 3 distinct isoforms of malic enzyme: a cytosolic NADP(+)-dependent isoform, a mitochondrial NADP(+)-dependent isoform, and a mitochondrial NAD(+)-dependent isoform. This gene encodes a mitochondrial NADP(+)-dependent isoform. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
MEA1	chr6	43012094	43013968	-	ENSG00000124733.3	protein_coding	HYS|MEA	6p21.1	male-enhanced antigen 1	Broad expression in testis (RPKM 41.1), brain (RPKM 13.3) and 25 other tissues
MEAF6	chr1	37492575	37514774	-	ENSG00000163875.15	protein_coding	C1orf149|CENP-28|EAF6|NY-SAR-91	1p34.3	MYST/Esa1 associated factor 6	This gene encodes a nuclear protein involved in transcriptional activation. The encoded protein may form a component of several different histone acetyltransferase complexes. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
MEAK7	chr16	 84476355	84504659	-	ENSG00000140950	protein-coding	EAK7|KIAA1609|TLDC1|mEAK-7	16q24.1	MTOR associated protein, eak-7 homolog	Ubiquitous expression in placenta (RPKM 6.1), esophagus (RPKM 5.1) and 23 other tissues
MECOM	chr3	169083499	169663618	-	ENSG00000085276.17	protein_coding	AML1-EVI-1|EVI1|KMT8E|MDS1|MDS1-EVI1|PRDM3|RUSAT2	3q26.2	MDS1 and EVI1 complex locus	The protein encoded by this gene is a transcriptional regulator and oncoprotein that may be involved in hematopoiesis, apoptosis, development, and cell differentiation and proliferation. The encoded protein can interact with CTBP1, SMAD3, CREBBP, KAT2B, MAPK8, and MAPK9. This gene can undergo translocation with the AML1 gene, resulting in overexpression of this gene and the onset of leukemia. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
MECP2	chrX	154021573	154137103	-	ENSG00000169057.21	protein_coding	AUTSX3|MRX16|MRX79|MRXS13|MRXSL|PPMX|RS|RTS|RTT	Xq28	methyl-CpG binding protein 2	DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
MECR	chr1	29192873	29230942	-	ENSG00000116353.15	protein_coding	CGI-63|DYTOABG|ETR1|FASN2B|NRBF1	1p35.3	mitochondrial trans-2-enoyl-CoA reductase	The protein encoded by this gene is an oxidoreductase that catalyzes the last step in mitochondrial fatty acid synthesis. Defects in this gene are a cause of childhood-onset dystonia and optic atrophy. [provided by RefSeq, Mar 2017]
MED1	chr17	39404285	39451286	-	ENSG00000125686.11	protein_coding	CRSP1|CRSP200|DRIP205|DRIP230|PBP|PPARBP|PPARGBP|RB18A|TRAP220|TRIP2	17q12	mediator complex subunit 1	The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. It also regulates p53-dependent apoptosis and it is essential for adipogenesis. This protein is known to have the ability to self-oligomerize. [provided by RefSeq, Jul 2008]
MED10	chr5	6371881	6378594	-	ENSG00000133398.3	protein_coding	L6|NUT2|TRG20	5p15.31	mediator complex subunit 10	MED10 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]
MED11	chr17	4731428	4733610	+	ENSG00000161920.9	protein_coding	HSPC296	17p13.2	mediator complex subunit 11	MED11 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]
MED12L	chr3	151085697	151437072	+	ENSG00000144893.12	protein_coding	NIZIDS|NOPAR|TNRC11L|TRALP|TRALPUSH	3q25.1	mediator complex subunit 12L	The protein encoded by this gene is part of the Mediator complex, which is involved in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. The Mediator complex links gene-specific transcriptional activators with the basal transcription machinery. [provided by RefSeq, May 2010]
MED13	chr17	61942605	62065282	-	ENSG00000108510.9	protein_coding	ARC250|DRIP250|HSPC221|MRD61|THRAP1|TRAP240	17q23.2	mediator complex subunit 13	This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene is proposed to form a sub-complex with MED12, cyclin C, and CDK8 that can negatively regulate transactivation by mediator. [provided by RefSeq, Jul 2008]
MED13L	chr12	115953872	116277338	-	ENSG00000123066.7	protein_coding	MRFACD|PROSIT240|THRAP2|TRAP240L	12q24.21	mediator complex subunit 13L	The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).[provided by RefSeq, Jul 2010]
MED15	chr22	20495913	20587632	+	ENSG00000099917.17	protein_coding	ARC105|CAG7A|CTG7A|PCQAP|TIG-1|TIG1|TNRC7	22q11.21	mediator complex subunit 15	The protein encoded by this gene is a subunit of the multiprotein complexes PC2 and ARC/DRIP and may function as a transcriptional coactivator in RNA polymerase II transcription. This gene contains stretches of trinucleotide repeats and is located in the chromosome 22 region which is deleted in DiGeorge syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
MED16	chr19	867630	893218	-	ENSG00000175221.14	protein_coding	DRIP92|THRAP5|TRAP95	19p13.3	mediator complex subunit 16	Ubiquitous expression in ovary (RPKM 10.5), kidney (RPKM 10.1) and 25 other tissues
MED17	chr11	93784227	93814963	+	ENSG00000042429.11	protein_coding	CRSP6|CRSP77|DRIP80|SRB4|TRAP80	11q21	mediator complex subunit 17	The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008]
MED18	chr1	28329002	28335967	+	ENSG00000130772.13	protein_coding	SRB5|p28b	1p35.3	mediator complex subunit 18	MED18 is a component of the Mediator complex, which is a coactivator for DNA-binding factors that activate transcription via RNA polymerase II (Sato et al., 2003 [PubMed 12584197]).[supplied by OMIM, Oct 2008]
MED19	chr11	57703714	57712323	-	ENSG00000156603.15	protein_coding	DT2P1G7|LCMR1|MED19AS	11q12.1	mediator complex subunit 19	The protein encoded by this gene is a subunit of the Mediator complex, which binds to gene-specific regulatory factors and provides support for the basal RNA polymerase II transcription machinery. This gene has been implicated in the growth of several types of cancer, and inhibition of its expression inhibits the growth and spread of these cancers. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
MED20	chr6	41905354	41921139	-	ENSG00000124641.15	protein_coding	PRO0213|SRB2|TRFP	6p21.1	mediator complex subunit 20	This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. A mutation in this gene has been associated with a novel infantile-onset neurodegenerative movement disorder. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
MED21	chr12	27022546	27066343	+	ENSG00000152944.8	protein_coding	SRB7|SURB7|hSrb7	12p11.23	mediator complex subunit 21	This gene encodes a member of the mediator complex subunit 21 family. The encoded protein interacts with the human RNA polymerase II holoenzyme and is involved in transcriptional regulation of RNA polymerase II transcribed genes. A pseudogene of this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
MED22	chr9	133338323	133348131	-	ENSG00000148297.15	protein_coding	MED24|SRB6|SURF5|surf-5	9q34.2	mediator complex subunit 22	This gene encodes a protein component of the mediator complex, which functions in the regulation of transcription by bridging interactions between gene-specific regulatory factors, RNA polymerase II, and general transcription factors. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]
MED23	chr6	131573966	131628229	-	ENSG00000112282.17	protein_coding	ARC130|CRSP130|CRSP133|CRSP3|DRIP130|MRT18|SUR-2|SUR2	6q23.2	mediator complex subunit 23	The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. This protein also acts as a metastasis suppressor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2012]
MED24	chr17	40019097	40061215	-	ENSG00000008838.19	protein_coding	ARC100|CRSP100|CRSP4|DRIP100|MED5|THRAP4|TRAP100	17q21.1	mediator complex subunit 24	This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
MED25	chr19	49818279	49838816	+	ENSG00000104973.16	protein_coding	ACID1|ARC92|BVSYS|CMT2B2|P78|PTOV2|TCBAP0758	19q13.33	mediator complex subunit 25	This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded protein plays a role in chromatin modification and in preinitiation complex assembly. Mutations in this gene are associated with Charcot-Marie-Tooth disease type 2B2. [provided by RefSeq, Apr 2010]
MED26	chr19	16574907	16629062	-	ENSG00000105085.10	protein_coding	CRSP7|CRSP70	19p13.11	mediator complex subunit 26	The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008]
MED27	chr9	131860107	132079908	-	ENSG00000160563.13	protein_coding	CRAP34|CRSP34|CRSP8|MED3|NEDSCAC|TRAP37	9q34.13	mediator complex subunit 27	The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 5. [provided by RefSeq, Dec 2011]
MED28	chr4	17614631	17634105	+	ENSG00000118579.12	protein_coding	1500003D12Rik|EG1|magicin	4p15.32	mediator complex subunit 28	Ubiquitous expression in ovary (RPKM 18.1), placenta (RPKM 17.9) and 25 other tissues
MED29	chr19	39391303	39400637	+	ENSG00000063322.13	protein_coding	IXL|MED2	19q13.2	mediator complex subunit 29	MED29 is a subunit of the Mediator complex, a multiprotein coactivator of RNA transcription that interacts with DNA-bound transcriptional activators, RNA polymerase II (see MIM 180660), and general initiation factors (Sato et al., 2003 [PubMed 14576168]).[supplied by OMIM, Aug 2009]
MED30	chr8	117520713	117540262	+	ENSG00000164758.7	protein_coding	MED30S|THRAP6|TRAP25	8q24.11	mediator complex subunit 30	The multiprotein TRAP/Mediator complex facilitates gene expression through a wide variety of transcriptional activators. MED30 is a component of this complex that appears to be metazoan specific (Baek et al., 2002 [PubMed 11909976]).[supplied by OMIM, Nov 2010]
MED31	chr17	6643315	6651634	-	ENSG00000108590.10	protein_coding	3110004H13Rik|CGI-125|Soh1	17p13.1	mediator complex subunit 31	Ubiquitous expression in brain (RPKM 6.0), adrenal (RPKM 4.6) and 25 other tissues
MED4	chr13	48053323	48095131	-	ENSG00000136146.14	protein_coding	ARC36|DRIP36|HSPC126|TRAP36|VDRIP	13q14.2	mediator complex subunit 4	This gene encodes a component of the Mediator complex. The Mediator complex interacts with DNA-binding gene-specific transcription factors to modulate transcription by RNA polymerase II. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
MED4-AS1	chr13	48077137	48079991	+	ENSG00000229111.1	antisense	MED4-AS	13q14.2	MED4 antisense RNA 1	Ubiquitous expression in duodenum (RPKM 35.0), esophagus (RPKM 27.8) and 25 other tissues
MED6	chr14	70581257	70600690	-	ENSG00000133997.11	protein_coding	ARC33|NY-REN-28	14q24.2	mediator complex subunit 6	Ubiquitous expression in lymph node (RPKM 6.4), ovary (RPKM 5.9) and 25 other tissues
MED7	chr5	157137412	157159019	-	ENSG00000155868.7	protein_coding	ARC34|CRSP33|CRSP9	5q33.3	mediator complex subunit 7	The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
MED8	chr1	43383917	43389808	-	ENSG00000159479.16	protein_coding	ARC32	1p34.2	mediator complex subunit 8	This gene encodes a protein component of the mediator complex, which aids in transcriptional activation through interaction with RNA polymerase II and gene-specific transcription factors. The encoded protein may also function in ubiquitin ligation and protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
MED9	chr17	17476986	17493226	+	ENSG00000141026.5	protein_coding	MED25	17p11.2	mediator complex subunit 9	The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
MEDAG	chr13	30906191	30925572	+	ENSG00000102802.9	protein_coding	AWMS3|C13orf33|MEDA-4|MEDA4|hAWMS3	13q12.3	mesenteric estrogen dependent adipogenesis	Broad expression in urinary bladder (RPKM 9.4), appendix (RPKM 6.9) and 19 other tissues
MEF2A	chr15	99565417	99716466	+	ENSG00000068305.17	protein_coding	ADCAD1|RSRFC4|RSRFC9|mef2	15q26.3	myocyte enhancer factor 2A	The protein encoded by this gene is a DNA-binding transcription factor that activates many muscle-specific, growth factor-induced, and stress-induced genes. The encoded protein can act as a homodimer or as a heterodimer and is involved in several cellular processes, including muscle development, neuronal differentiation, cell growth control, and apoptosis. Defects in this gene could be a cause of autosomal dominant coronary artery disease 1 with myocardial infarction (ADCAD1). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
MEF2B	chr19	19145568	19170289	-	ENSG00000213999.15	protein_coding	RSRFR2	19p13.11	myocyte enhancer factor 2B	The product of this gene is a member of the MADS/MEF2 family of DNA binding proteins. The protein is thought to regulate gene expression, including expression of the smooth muscle myosin heavy chain gene. This region undergoes considerable alternative splicing, with transcripts supporting two non-overlapping loci (GeneID 729991 and 100271849) as well as numerous read-through transcripts that span both loci (annotated as GeneID 4207). Several isoforms of this protein are expressed from either this locus or from some of the read-through transcripts annotated on GeneID 4207. [provided by RefSeq, Jan 2014]
MEF2C	chr5	88717117	88904257	-	ENSG00000081189.15	protein_coding	C5DELq14.3|DEL5q14.3|NEDHSIL	5q14.3	myocyte enhancer factor 2C	This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010]
MEF2C-AS1	chr5	88883328	89466398	+	ENSG00000248309.7	antisense	-	5q14.3	MEF2C antisense RNA 1	-
MEF2D	chr1	156463727	156500828	-	ENSG00000116604.17	protein_coding	-	1q22	myocyte enhancer factor 2D	Ubiquitous expression in bone marrow (RPKM 18.8), brain (RPKM 15.5) and 25 other tissues
MEFV	chr16	3242028	3256627	-	ENSG00000103313.12	protein_coding	FMF|MEF|PAAND|TRIM20	16p13.3	MEFV innate immuity regulator, pyrin	This gene encodes a protein, also known as pyrin or marenostrin, that is an important modulator of innate immunity. Mutations in this gene are associated with Mediterranean fever, a hereditary periodic fever syndrome. [provided by RefSeq, Jul 2008]
MEG3	chr14	100779410	100861031	+	ENSG00000214548.14	lincRNA	FP504|GTL2|LINC00023|NCRNA00023|PRO0518|PRO2160|onco-lncRNA-83|prebp1	14q32.2	maternally expressed 3	This gene is a maternally expressed imprinted gene. Multiple alternatively spliced transcript variants have been transcribed from this gene and all of them are long non-coding RNAs (lncRNAs). This gene is expressed in many normal tissues, but its expression is lost in multiple cancer cell lines of various tissue origins. It inhibits tumor cell proliferation in vitro. It also interacts with the tumor suppressor p53, and regulates p53 target gene expression. Its deletion enhances angiogenesis in vivo. Many experimental evidences demonstrate that this gene is a lncRNA tumor suppressor. [provided by RefSeq, Mar 2012]
MEG8	chr14	100836269	100947194	+	ENSG00000258399.7	lincRNA	Bsr|Irm|LINC00024|NCRNA00024|Rian|SNHG23|SNHG24|lnc-MGC	14q32.2-q32.31	maternally expressed 8, small nucleolar RNA host gene	This gene is located in a cluster of imprinted genes on chromosome 14q32.3. It encodes a a non-protein coding transcript that is preferentially expressed from the maternal allele in skeletal muscle, and appears to be coordinately regulated with other imprinted genes in this region. [provided by RefSeq, Oct 2010]
MEGF10	chr5	127290831	127465737	+	ENSG00000145794.16	protein_coding	EMARDD|SR-F3	5q23.2	multiple EGF like domains 10	This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
MEGF11	chr15	65895079	66253747	-	ENSG00000157890.17	protein_coding	-	15q22.31	multiple EGF like domains 11	-
MEGF6	chr1	3489920	3611495	-	ENSG00000162591.15	protein_coding	EGFL3	1p36.32	multiple EGF like domains 6	Broad expression in skin (RPKM 15.1), lung (RPKM 6.0) and 20 other tissues
MEGF8	chr19	42325609	42378769	+	ENSG00000105429.12	protein_coding	C19orf49|CRPT2|EGFL4|SBP1	19q13.2	multiple EGF like domains 8	The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
MEGF9	chr9	120600813	120714470	-	ENSG00000106780.8	protein_coding	EGFL5	9q33.2	multiple EGF like domains 9	Ubiquitous expression in thyroid (RPKM 22.6), brain (RPKM 20.0) and 24 other tissues
MEI1	chr22	41699499	41799456	+	ENSG00000167077.12	protein_coding	HYDM3|SPATA38	22q13.2	meiotic double-stranded break formation protein 1	Biased expression in testis (RPKM 5.5), spleen (RPKM 2.0) and 13 other tissues
MEIKIN	chr5	131806993	131945698	-	ENSG00000239642.5	protein_coding	-	5q31.1	meiotic kinetochore factor	-
MEIOB	chr16	1833983	1884294	-	ENSG00000162039.14	protein_coding	C16orf73|SPGF22|gs129	16p13.3	meiosis specific with OB-fold	Restricted expression toward testis (RPKM 20.3)
MEIOC	chr17	44656404	44690308	+	ENSG00000180336.17	protein_coding	C17orf104	17q21.31	meiosis specific with coiled-coil domain	Restricted expression toward testis (RPKM 25.4)
MEIOSIN	chr19	 45733439	45764541	+	ENSG00000237452	protein-coding	BHMG1|HMGDC	19q13.32	meiosis initiator	-
MEIS1	chr2	66433452	66573869	+	ENSG00000143995.19	protein_coding	-	2p14	Meis homeobox 1	Ubiquitous expression in endometrium (RPKM 17.9), adrenal (RPKM 12.6) and 21 other tissues
MEIS1-AS3	chr2	66426735	66433470	-	ENSG00000226819.1	antisense	-	2p14	MEIS1 antisense RNA 3	-
MEIS3	chr19	47403124	47419523	-	ENSG00000105419.17	protein_coding	MRG2	19q13.32	Meis homeobox 3	This gene encodes a homeobox protein and probable transcriptional regulator. The orthologous protein in mouse controls expression of 3-phosphoinositide dependent protein kinase 1, which promotes survival of pancreatic beta-cells. [provided by RefSeq, Sep 2016]
MEIS3P2	chr17	20589293	20590367	+	ENSG00000188013.6	processed_pseudogene	-	17p11.2	Meis homeobox 3 pseudogene 2	-
MELK	chr9	36572862	36677683	+	ENSG00000165304.7	protein_coding	HPK38	9p13.2	maternal embryonic leucine zipper kinase	Broad expression in testis (RPKM 5.2), lymph node (RPKM 4.4) and 14 other tissues
MELTF	chr3	196988621	197029816	-	ENSG00000163975.11	protein_coding	CD228|MAP97|MFI2|MTF1|MTf	3q29	melanotransferrin	The protein encoded by this gene is a cell-surface glycoprotein found on melanoma cells. The protein shares sequence similarity and iron-binding properties with members of the transferrin superfamily. The importance of the iron binding function has not yet been identified. This gene resides in the same region of chromosome 3 as members of the transferrin superfamily. Alternative splicing results in two transcript variants. [provided by RefSeq, Jul 2008]
MEMO1	chr2	31865060	32011230	-	ENSG00000162959.13	protein_coding	-	1p36.1-p35	Methylation modifier for class I HLA	-
MEMO1P1	chr21	36130489	36131376	+	ENSG00000226054.2	processed_pseudogene	C21orf19|C2orf4P|MEMO1P|Memo1|rcC2orf4	21q22.12	mediator of cell motility 1 pseudogene 1	-
MEN1	chr11	64803510	64811294	-	ENSG00000133895.14	protein_coding	MEAI|SCG2	11q13.1	menin 1	This gene encodes menin, a tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. Menin is a scaffold protein that functions in histone modification and epigenetic gene regulation. It is thought to regulate several pathways and processes by altering chromatin structure through the modification of histones. [provided by RefSeq, May 2019]
MEOX1	chr17	43640388	43661954	-	ENSG00000005102.12	protein_coding	KFS2|MOX1	17q21.31	mesenchyme homeobox 1	This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the molecular signaling network regulating somite development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
MEOX2	chr7	15611212	15686812	-	ENSG00000106511.5	protein_coding	GAX|MOX2	7p21.2	mesenchyme homeobox 2	This gene encodes a member of a subfamily of non-clustered, diverged, antennapedia-like homeobox-containing genes. The encoded protein may play a role in the regulation of vertebrate limb myogenesis. Mutations in the related mouse protein may be associated with craniofacial and/or skeletal abnormalities, in addition to neurovascular dysfunction observed in Alzheimers disease. [provided by RefSeq, Jul 2008]
MEP1B	chr18	32185069	32220404	+	ENSG00000141434.11	protein_coding	-	18q12.1	meprin A subunit beta	Biased expression in small intestine (RPKM 150.9) and duodenum (RPKM 98.0)
MEPCE	chr7	100428790	100434126	+	ENSG00000146834.13	protein_coding	BCDIN3	7q22.1	methylphosphate capping enzyme	Ubiquitous expression in testis (RPKM 29.4), spleen (RPKM 17.1) and 25 other tissues
MEPE	chr4	87821411	87846817	+	ENSG00000152595.16	protein_coding	OF45	4q22.1	matrix extracellular phosphoglycoprotein	This gene encodes a secreted calcium-binding phosphoprotein that belongs to the small integrin-binding ligand, N-linked glycoprotein (SIBLING) family of proteins. Members of this family are components of the extracellular matrix of bone and dentin and regulate bone mineralization. Deficiency of a similar protein in mouse results in increased bone mass. Mice lacking this gene are resistant to aging-related trabecular bone loss. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
MERTK	chr2	111898479	112029561	+	ENSG00000153208.16	protein_coding	MER|RP38|Tyro12|c-Eyk|c-mer	2q13	MER proto-oncogene, tyrosine kinase	This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq, Jul 2008]
MESD	chr15	 80946289	80989819	-	ENSG00000117899	protein-coding	BOCA|MESDC2|OI20	15q25.1	mesoderm development LRP chaperone	Ubiquitous expression in thyroid (RPKM 16.9), placenta (RPKM 10.6) and 25 other tissues
MESP1	chr15	89748661	89751310	-	ENSG00000166823.5	protein_coding	bHLHc5	15q26.1	mesoderm posterior bHLH transcription factor 1	Biased expression in fat (RPKM 4.6), prostate (RPKM 4.1) and 4 other tissues
MESP2	chr15	89760591	89778754	+	ENSG00000188095.4	protein_coding	SCDO2|bHLHc6	15q26.1	mesoderm posterior bHLH transcription factor 2	This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. This gene is expressed in the anterior presomitic mesoderm and is downregulated immediately after the formation of segmented somites. This gene also plays a role in the formation of epithelial somitic mesoderm and cardiac mesoderm. Mutations in the MESP2 gene cause autosomal recessive spondylocostal dystosis 2 (SCD02). [provided by RefSeq, Oct 2008]
MEST	chr7	130486171	130506296	+	ENSG00000106484.14	protein_coding	PEG1	7q32.2	mesoderm specific transcript	This gene encodes a member of the alpha/beta hydrolase superfamily. It is imprinted, exhibiting preferential expression from the paternal allele in fetal tissues, and isoform-specific imprinting in lymphocytes. The loss of imprinting of this gene has been linked to certain types of cancer and may be due to promotor switching. The encoded protein may play a role in development. Alternatively spliced transcript variants encoding multiple isoforms have been identified for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3 and 4, and the long arm of chromosomes 6 and 15. [provided by RefSeq, Dec 2011]
MET	chr7	116672390	116798386	+	ENSG00000105976.14	protein_coding	AUTS9|DFNB97|HGFR|RCCP2|c-Met	7q31.2	MET proto-oncogene, receptor tyrosine kinase	This gene encodes a member of the receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that are linked via disulfide bonds to form the mature receptor. Further processing of the beta subunit results in the formation of the M10 peptide, which has been shown to reduce lung fibrosis. Binding of its ligand, hepatocyte growth factor, induces dimerization and activation of the receptor, which plays a role in cellular survival, embryogenesis, and cellular migration and invasion. Mutations in this gene are associated with papillary renal cell carcinoma, hepatocellular carcinoma, and various head and neck cancers. Amplification and overexpression of this gene are also associated with multiple human cancers. [provided by RefSeq, May 2016]
METAP1D	chr2	171999583	172082430	+	ENSG00000172878.13	protein_coding	MAP 1D|MAP1D|MetAP 1D|Metap1l	2q31.1	methionyl aminopeptidase type 1D, mitochondrial	The N-terminal methionine excision pathway is an essential process in which the N-terminal methionine is removed from many proteins, thus facilitating subsequent protein modification. In mitochondria, enzymes that catalyze this reaction are celled methionine aminopeptidases (MetAps, or MAPs; EC 3.4.11.18) (Serero et al., 2003 [PubMed 14532271]).[supplied by OMIM, Mar 2008]
METAP2	chr12	95473520	95515839	+	ENSG00000111142.13	protein_coding	MAP2|MNPEP|p67eIF2	12q22	methionyl aminopeptidase 2	The protein encoded by this gene is a member of the methionyl aminopeptidase family. The encoded protein functions both by protecting the alpha subunit of eukaryotic initiation factor 2 from inhibitory phosphorylation and by removing the amino-terminal methionine residue from nascent proteins. Increased expression of this gene is associated with various forms of cancer, and the anti-cancer drugs fumagillin and ovalicin inhibit the protein by irreversibly binding to its active site. Inhibitors of this gene have also been shown to be effective for the treatment of obesity. A pseudogene of this gene is located on chromosome 2. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
METRN	chr16	715115	719655	+	ENSG00000103260.8	protein_coding	C16orf23|c380A1.2	16p13.3	meteorin, glial cell differentiation regulator	Meteorin regulates glial cell differentiation and promotes the formation of axonal networks during neurogenesis (Nishino et al., 2004 [PubMed 15085178]).[supplied by OMIM, Mar 2008]
METRNL	chr17	83079691	83095119	+	ENSG00000176845.12	protein_coding	-	17q25.3	meteorin like, glial cell differentiation regulator	-
METTL1	chr12	57768471	57772793	-	ENSG00000037897.16	protein_coding	C12orf1|TRM8|TRMT8|YDL201w	12q14.1	methyltransferase 1, tRNA methylguanosine	This gene is similar in sequence to the S. cerevisiae YDL201w gene. The gene product contains a conserved S-adenosylmethionine-binding motif and is inactivated by phosphorylation. Alternative splice variants encoding different protein isoforms have been described for this gene. A pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2008]
METTL13	chr1	171781664	171814023	+	ENSG00000010165.19	protein_coding	5630401D24Rik|CGI-01|DFNB26|DFNB26M|DFNM1|EEF1AKNMT|KIAA0859|feat	1q24.3	methyltransferase 13, eEF1A lysine and N-terminal methyltransferase	-
METTL14	chr4	118685368	118715433	+	ENSG00000145388.14	protein_coding	hMETTL14	4q26	methyltransferase 14, N6-adenosine-methyltransferase subunit	Ubiquitous expression in testis (RPKM 8.4), thyroid (RPKM 7.2) and 25 other tissues
METTL15	chr11	28108248	28527041	+	ENSG00000169519.20	protein_coding	METT5D1	11p14.1	methyltransferase like 15	Ubiquitous expression in thyroid (RPKM 2.9), adrenal (RPKM 2.8) and 25 other tissues
METTL15P1	chr3	156713884	156714928	-	ENSG00000174912.7	processed_pseudogene	METT5D2	3q25.31	methyltransferase like 15 pseudogene 1	Predicted to enable rRNA (cytosine-N4-)-methyltransferase activity. Predicted to be involved in rRNA base methylation. [provided by Alliance of Genome Resources, Apr 2022]
METTL16	chr17	2405562	2511891	-	ENSG00000127804.12	protein_coding	METT10D	17p13.3	methyltransferase 16, N6-methyladenosine	Ubiquitous expression in ovary (RPKM 7.5), thyroid (RPKM 6.7) and 25 other tissues
METTL17	chr14	20989770	20997035	+	ENSG00000165792.17	protein_coding	METT11D1	14q11.2	methyltransferase like 17	Ubiquitous expression in duodenum (RPKM 22.3), lymph node (RPKM 19.6) and 25 other tissues
METTL18	chr1	169792529	169794966	-	ENSG00000171806.11	protein_coding	AsTP2|C1orf156|HPM1	1q24.2	methyltransferase like 18	Ubiquitous expression in lymph node (RPKM 4.6), thyroid (RPKM 3.3) and 25 other tissues
METTL21A	chr2	207580631	207625928	-	ENSG00000144401.14	protein_coding	FAM119A|HCA557b|HSPA-KMT	2q33.3	methyltransferase 21A, HSPA lysine	Ubiquitous expression in lymph node (RPKM 1.8), spleen (RPKM 1.7) and 25 other tissues
METTL22	chr16	8621683	8649654	+	ENSG00000067365.14	protein_coding	C16orf68	16p13.2	methyltransferase 22, Kin17 lysine	This gene encodes a member of the non-histone lysine methyltransferases. It interacts with its substrate, Kin17, which is involved in DNA repair and replication and mRNA processing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
METTL24	chr6	110245928	110358272	-	ENSG00000053328.8	protein_coding	C6orf186	6q21	methyltransferase like 24	Broad expression in endometrium (RPKM 3.7), gall bladder (RPKM 2.6) and 20 other tissues
METTL25	chr12	82358497	82479236	+	ENSG00000127720.7	protein_coding	C12orf26	12q21.31	methyltransferase like 25	Low expression observed in reference dataset
METTL25B	chr1	 156728469	156736960	+	ENSG00000143303	protein-coding	C1orf66|CGI-41|RRNAD1	1q23.1	methyltransferase like 25B	-
METTL26	chr16	634427	636366	-	ENSG00000130731.15	protein_coding	C16orf13|JFP2	16p13.3	methyltransferase like 26	Ubiquitous expression in kidney (RPKM 12.8), ovary (RPKM 12.0) and 25 other tissues
METTL27	chr7	 73834590	73842516	-	ENSG00000165171	protein-coding	WBSCR27	7q11.23	methyltransferase like 27	This gene encodes a protein belonging to ubiE/COQ5 methyltransferase family. The gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.22-q11.23. [provided by RefSeq, Jul 2008]
METTL2A	chr17	62423867	62450822	+	ENSG00000087995.15	protein_coding	METTL2	17q23.2	methyltransferase 2A, methylcytidine	Ubiquitous expression in brain (RPKM 6.2), thyroid (RPKM 6.2) and 25 other tissues
METTL2B	chr7	128476729	128506602	+	ENSG00000165055.15	protein_coding	METL|METTL2|METTL2A|PSENIP1	7q32.1	methyltransferase 2B, methylcytidine	This gene is a member of a family of methyltransferases that share homology with, but are distinct from, the UbiE family of methyltransferases. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
METTL3	chr14	21498133	21511375	-	ENSG00000165819.11	protein_coding	IME4|M6A|MT-A70|Spo8|hMETTL3	14q11.2	methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit	This gene encodes the 70 kDa subunit of MT-A which is part of N6-adenosine-methyltransferase. This enzyme is involved in the posttranscriptional methylation of internal adenosine residues in eukaryotic mRNAs, forming N6-methyladenosine. [provided by RefSeq, Jul 2008]
METTL4	chr18	2537525	2571509	-	ENSG00000101574.14	protein_coding	HsT661	18p11.32	methyltransferase 4, N6-adenosine	Ubiquitous expression in lymph node (RPKM 4.0), thyroid (RPKM 3.9) and 25 other tissues
METTL5	chr2	169810081	169824931	-	ENSG00000138382.14	protein_coding	HSPC133|MRT72	2q31.1	methyltransferase 5, N6-adenosine	Ubiquitous expression in fat (RPKM 27.8), thyroid (RPKM 17.4) and 25 other tissues
METTL6	chr3	15381275	15440566	-	ENSG00000206562.11	protein_coding	-	3p25.1	methyltransferase 6, methylcytidine	-
METTL7A	chr12	50923472	50932517	+	ENSG00000185432.11	protein_coding	AAM-B|AAMB	12q13.12	methyltransferase like 7A	Broad expression in liver (RPKM 132.2), thyroid (RPKM 109.3) and 24 other tissues
METTL7B	chr12	55681546	55684611	+	ENSG00000170439.6	protein_coding	ALDI	12q13.2	methyltransferase like 7B	Biased expression in liver (RPKM 58.0), duodenum (RPKM 25.7) and 7 other tissues
METTL8	chr2	171317405	171434802	-	ENSG00000123600.19	protein_coding	TIP	2q31.1	methyltransferase 8, methylcytidine	Ubiquitous expression in skin (RPKM 2.5), esophagus (RPKM 2.0) and 24 other tissues
METTL9	chr16	21597218	21657473	+	ENSG00000197006.13	protein_coding	CGI-81|DREV|DREV1|PAP1|hMETTL9	16p12.2	methyltransferase like 9	Ubiquitous expression in kidney (RPKM 38.8), adrenal (RPKM 37.6) and 25 other tissues
MEX3A	chr1	156072013	156081998	-	ENSG00000254726.2	protein_coding	MEX-3A|RKHD4|RNF162	1q22	mex-3 RNA binding family member A	Broad expression in endometrium (RPKM 3.0), ovary (RPKM 2.6) and 16 other tissues
MEX3B	chr15	82041778	82046141	-	ENSG00000183496.5	protein_coding	MEX-3B|RKHD3|RNF195	15q25.2	mex-3 RNA binding family member B	This gene encodes an RNA-binding phosphoprotein that is part of the MEX3 (muscle excess 3) family of translational regulators. The encoded protein contains N-terminal nuclear export and nuclear localization signals and is exported from the cytoplasm to the nucleus. The protein binds to RNA via two KH domains and also colocalizes with MEX3A, Dcp1A decapping factor and Argonaute proteins within P (processing) bodies. [provided by RefSeq, Oct 2012]
MEX3C	chr18	51174550	51218304	-	ENSG00000176624.10	protein_coding	BM-013|MEX-3C|RKHD2|RNF194	18q21.2	mex-3 RNA binding family member C	This gene encodes a member of a family of proteins with two K homology (KH) RNA-binding domains and a C-terminal RING-finger domain. The protein interacts with mRNA via the KH domains, and the protein shuttles between the nucleus and cytoplasm. Polymorphisms in this gene may contribute to hypertension. [provided by RefSeq, Oct 2009]
MEX3D	chr19	1554669	1568058	-	ENSG00000181588.16	protein_coding	MEX-3D|MEX3|OK/SW-cl.4|RKHD1|RNF193|TINO	19p13.3	mex-3 RNA binding family member D	Broad expression in testis (RPKM 6.0), fat (RPKM 4.9) and 24 other tissues
MFAP1	chr15	43804492	43824802	-	ENSG00000140259.6	protein_coding	AMP	15q15.3	microfibril associated protein 1	Ubiquitous expression in thyroid (RPKM 15.2), testis (RPKM 14.4) and 25 other tissues
MFAP2	chr1	16974502	16980835	-	ENSG00000117122.13	protein_coding	MAGP|MAGP-1|MAGP1	1p36.13	microfibril associated protein 2	Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
MFAP3	chr5	154038906	154220478	+	ENSG00000037749.11	protein_coding	-	5q33.2	microfibril associated protein 3	-
MFAP3L	chr4	169986597	170033031	-	ENSG00000198948.11	protein_coding	NYD-sp9	4q33	microfibril associated protein 3 like	Broad expression in kidney (RPKM 7.1), brain (RPKM 6.1) and 14 other tissues
MFAP4	chr17	19383442	19387240	-	ENSG00000166482.11	protein_coding	-	17p11.2	microfibril associated protein 4	Broad expression in gall bladder (RPKM 378.1), lung (RPKM 320.6) and 18 other tissues
MFAP5	chr12	8637346	8662888	-	ENSG00000197614.10	protein_coding	AAT9|MAGP-2|MAGP2|MFAP-5|MP25	12p13.31	microfibril associated protein 5	This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice results in neutropenia. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
MFF	chr2	227325151	227357836	+	ENSG00000168958.19	protein_coding	C2orf33|EMPF2|GL004	2q36.3	mitochondrial fission factor	This is a nuclear gene encoding a protein that functions in mitochondrial and peroxisomal fission. The encoded protein recruits dynamin-1-like protein (DNM1L) to mitochondria. There are multiple pseudogenes for this gene on chromosomes 1, 5, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
MFGE8	chr15	88898683	88913411	-	ENSG00000140545.14	protein_coding	BA46|EDIL1|HMFG|HsT19888|MFG-E8|MFGM|OAcGD3S|SED1|SPAG10|hP47	15q26.1	milk fat globule EGF and factor V/VIII domain containing	This gene encodes a preproprotein that is proteolytically processed to form multiple protein products. The major encoded protein product, lactadherin, is a membrane glycoprotein that promotes phagocytosis of apoptotic cells. This protein has also been implicated in wound healing, autoimmune disease, and cancer. Lactadherin can be further processed to form a smaller cleavage product, medin, which comprises the major protein component of aortic medial amyloid (AMA). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
MFHAS1	chr8	8783354	8893645	-	ENSG00000147324.10	protein_coding	LRRC65|MASL1|ROCO4	8p23.1	multifunctional ROCO family signaling regulator 1	Identified in a human 8p amplicon, this gene is a potential oncogene whose expression is enhanced in some malignant fibrous histiocytomas (MFH). The primary structure of its product includes an ATP/GTP-binding site, three leucine zipper domains, and a leucine-rich tandem repeat, which are structural or functional elements for interactions among proteins related to the cell cycle, and which suggest that overexpression might be oncogenic with respect to MFH. [provided by RefSeq, Jul 2008]
MFN1	chr3	179347692	179394931	+	ENSG00000171109.18	protein_coding	hfzo1|hfzo2	3q26.33	mitofusin 1	The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting. [provided by RefSeq, Jul 2008]
MFN2	chr1	11980181	12013514	+	ENSG00000116688.16	protein_coding	CMT2A|CMT2A2|CMT2A2A|CMT2A2B|CPRP1|HMSN6A|HSG|MARF	1p36.22	mitofusin 2	This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
MFRP	chr11	119338942	119346673	-	ENSG00000235718.8	protein_coding	CTRP5|MCOP5|NNO2|RD6	11q23.3	membrane frizzled-related protein	This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013]
MFSD1	chr3	158732198	158829719	+	ENSG00000118855.18	protein_coding	Minerva|SMAP4	3q25.32	major facilitator superfamily domain containing 1	Ubiquitous expression in appendix (RPKM 32.7), esophagus (RPKM 31.9) and 25 other tissues
MFSD10	chr4	2930561	2934859	-	ENSG00000109736.14	protein_coding	TETRAN|TETTRAN	4p16.3	major facilitator superfamily domain containing 10	This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein likely functions in efflux of organic anions, including the non-steroidal anti-inflammatory drugs indomethacin and diclofenac. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
MFSD11	chr17	76735865	76781449	+	ENSG00000092931.11	protein_coding	ET	17q25.1-q25.2	major facilitator superfamily domain containing 11	Ubiquitous expression in colon (RPKM 5.3), stomach (RPKM 4.4) and 25 other tissues
MFSD12	chr19	3538261	3574290	-	ENSG00000161091.12	protein_coding	C19orf28|PP3501	19p13.3	major facilitator superfamily domain containing 12	Ubiquitous expression in kidney (RPKM 23.3), skin (RPKM 11.8) and 25 other tissues
MFSD13A	chr10	102461395	102477045	+	ENSG00000138111.14	protein_coding	C10orf77|TMEM180|bA18I14.8	10q24.32	major facilitator superfamily domain containing 13A	Ubiquitous expression in brain (RPKM 9.0), lung (RPKM 6.4) and 25 other tissues
MFSD14A	chr1	100038097	100083377	+	ENSG00000156875.13	protein_coding	HIAT1	1p21.2	major facilitator superfamily domain containing 14A	Ubiquitous expression in bone marrow (RPKM 31.6), testis (RPKM 26.1) and 25 other tissues
MFSD14B	chr9	94374551	94461042	+	ENSG00000148110.15	protein_coding	HIATL1	9q22.32	major facilitator superfamily domain containing 14B	Ubiquitous expression in esophagus (RPKM 21.3), lung (RPKM 18.5) and 25 other tissues
MFSD14C	chr9	96897917	97013708	-	ENSG00000196312.12	protein_coding	HIATL2	9q22.33	major facilitator superfamily domain containing 14C	Ubiquitous expression in brain (RPKM 4.9), testis (RPKM 4.7) and 25 other tissues
MFSD1P1	chr17	4301372	4302698	+	ENSG00000261868.1	processed_pseudogene	-	17p13.2	major facilitator superfamily domain containing 1 pseudogene 1	-
MFSD2A	chr1	39955112	39969968	+	ENSG00000168389.17	protein_coding	MCPH15|MFSD2|NEDMISBA|NLS1|SLC59A1	1p34.2	major facilitator superfamily domain containing 2A	The protein encoded by this gene is a transmembrane protein and sodium-dependent lysophosphatidylcholine transporter. The encoded protein is involved in the establishment of the blood-brain barrier and is required for brain growth and function. Defects in this gene are a cause of a progressive microcephaly syndrome. [provided by RefSeq, Mar 2017]
MFSD2B	chr2	24010081	24063321	+	ENSG00000205639.9	protein_coding	SLC59A2	2p23.3	major facilitator superfamily domain containing 2B	Biased expression in bone marrow (RPKM 2.9), placenta (RPKM 0.3) and 1 other tissue
MFSD3	chr8	144509074	144511213	+	ENSG00000167700.8	protein_coding	-	8q24.3	major facilitator superfamily domain containing 3	-
MFSD4A	chr1	205568885	205602918	+	ENSG00000174514.12	protein_coding	MFSD4|SLC60A1|UNQ3064	1q32.1	major facilitator superfamily domain containing 4A	Biased expression in kidney (RPKM 40.9), stomach (RPKM 37.2) and 6 other tissues
MFSD4B	chr6	111259348	111271167	+	ENSG00000173214.5	protein_coding	KIAA1919|NaGLT1|SLC60A2	6q21	major facilitator superfamily domain containing 4B	Ubiquitous expression in placenta (RPKM 2.0), testis (RPKM 1.6) and 24 other tissues
MFSD5	chr12	53251251	53254405	+	ENSG00000182544.8	protein_coding	SLC61A1|hsMOT2	12q13.13	major facilitator superfamily domain containing 5	Ubiquitous expression in skin (RPKM 12.9), esophagus (RPKM 11.1) and 25 other tissues
MFSD6	chr2	190408355	190509205	+	ENSG00000151690.14	protein_coding	MMR2|hMMR2	2q32.2	major facilitator superfamily domain containing 6	Ubiquitous expression in brain (RPKM 26.0), thyroid (RPKM 22.9) and 23 other tissues
MFSD8	chr4	127917805	127965995	-	ENSG00000164073.9	protein_coding	CCMD|CLN7	4q28.2	major facilitator superfamily domain containing 8	This gene encodes a ubiquitous integral membrane protein that contains a transporter domain and a major facilitator superfamily (MFS) domain. Other members of the major facilitator superfamily transport small solutes through chemiosmotic ion gradients. The substrate transported by this protein is unknown. The protein likely localizes to lysosomal membranes. Mutations in this gene are correlated with a variant form of late infantile-onset neuronal ceroid lipofuscinoses (vLINCL). [provided by RefSeq, Oct 2008]
MFSD9	chr2	102715840	102736888	-	ENSG00000135953.10	protein_coding	-	2q12.1	major facilitator superfamily domain containing 9	-
MGA	chr15	41621224	41773081	+	ENSG00000174197.16	protein_coding	MAD5|MXD5	15q15.1	MAX dimerization protein MGA	Ubiquitous expression in ovary (RPKM 5.9), testis (RPKM 5.5) and 25 other tissues
MGAT1	chr5	180784782	180815652	-	ENSG00000131446.16	protein_coding	GLCNAC-TI|GLCT1|GLYT1|GNT-1|GNT-I|GnTI|MGAT	5q35.3	alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I is a medial-Golgi enzyme essential for the synthesis of hybrid and complex N-glycans. The protein, encoded by a single exon, shows typical features of a type II transmembrane protein. The protein is believed to be essential for normal embryogenesis. Several variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
MGAT3	chr22	39457344	39492194	+	ENSG00000128268.11	protein_coding	GNT-III|GNT3	22q13.1	beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase	There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. The enzyme encoded by this gene transfers a GlcNAc residue to the beta-linked mannose of the trimannosyl core of N-linked oligosaccharides and produces a bisecting GlcNAc. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
MGAT3-AS1	chr22	39475807	39476822	-	ENSG00000227188.1	antisense	TapSAKI	22q13.1	MGAT3 antisense RNA 1	Biased expression in small intestine (RPKM 1.5), duodenum (RPKM 0.8) and 11 other tissues
MGAT4A	chr2	98619106	98731126	-	ENSG00000071073.12	protein_coding	GNT-IV|GNT-IVA|GnT-4a	2q11.2	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A	This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme B, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. [provided by RefSeq, Jul 2008]
MGAT4B	chr5	179797597	179806952	-	ENSG00000161013.16	protein_coding	GNT-IV|GNT-IVB	5q35.3	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	This gene encodes a key glycosyltransferase that regulates the formation of tri- and multiantennary branching structures in the Golgi apparatus. The encoded protein, in addition to the related isoenzyme A, catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc in a beta-1,4 linkage to the Man-alpha-1,3-Man-beta-1,4-GlcNAc arm of R-Man-alpha-1,6(GlcNAc-beta-1,2-Man-alpha-1,3)Man-beta-1,4-GlcNAc-beta-1,4-GlcNAc-beta-1-Asn. The encoded protein may play a role in regulating the availability of serum glycoproteins, oncogenesis, and differentiation. [provided by RefSeq, Jul 2008]
MGAT5	chr2	134119983	134454621	+	ENSG00000152127.8	protein_coding	GNT-V|GNT-VA|MGAT5A|glcNAc-T V	2q21.2-q21.3	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase	The protein encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharides present on the newly synthesized glycoproteins. It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive or migratory behavior of a cell. Increase in the activity of this enzyme has been correlated with the progression of invasive malignancies. [provided by RefSeq, Oct 2011]
MGC27382	chr1	78229599	78369464	+	ENSG00000237413.5	processed_transcript	-	1p31.1	uncharacterized MGC27382	-
MGLL	chr3	127689062	127823250	-	ENSG00000074416.13	protein_coding	HU-K5|HUK5|MAGL|MGL	3q21.3	monoglyceride lipase	This gene encodes a serine hydrolase of the AB hydrolase superfamily that catalyzes the conversion of monoacylglycerides to free fatty acids and glycerol. The encoded protein plays a critical role in several physiological processes including pain and nociperception through hydrolysis of the endocannabinoid 2-arachidonoylglycerol. Expression of this gene may play a role in cancer tumorigenesis and metastasis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
MGMT	chr10	129467184	129768007	+	ENSG00000170430.9	protein_coding	-	10q26.3	O-6-methylguanine-DNA methyltransferase	Ubiquitous expression in liver (RPKM 6.2), kidney (RPKM 3.0) and 25 other tissues
MGP	chr12	14881181	14885926	-	ENSG00000111341.9	protein_coding	GIG36|MGLAP|NTI	12p12.3	matrix Gla protein	This gene encodes a member of the osteocalcin/matrix Gla family of proteins. The encoded vitamin K-dependent protein is secreted by chondrocytes and vascular smooth muscle cells, and functions as a physiological inhibitor of ectopic tissue calcification. Carboxylation status of the encoded protein is associated with calcification of the vasculature in human patients with cardiovascular disease and calcification of the synovial membranes in osteoarthritis patients. Mutations in this gene cause Keutel syndrome in human patients, which is characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and facial hypoplasia. [provided by RefSeq, Sep 2016]
MGRN1	chr16	4616493	4690974	+	ENSG00000102858.12	protein_coding	RNF156	16p13.3	mahogunin ring finger 1	Mahogunin (MGRN1) is a C3HC4 RING-containing protein with E3 ubiquitin ligase activity in vitro.[supplied by OMIM, Apr 2004]
MGST1	chr12	16347142	16609259	+	ENSG00000008394.12	protein_coding	GST12|MGST|MGST-I	12p12.3	microsomal glutathione S-transferase 1	The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, two of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. Other family members, demonstrating glutathione S-transferase and peroxidase activities, are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. This gene encodes a protein that catalyzes the conjugation of glutathione to electrophiles and the reduction of lipid hydroperoxides. This protein is localized to the endoplasmic reticulum and outer mitochondrial membrane where it is thought to protect these membranes from oxidative stress. Several transcript variants, some non-protein coding and some protein coding, have been found for this gene. [provided by RefSeq, May 2012]
MGST2	chr4	139665768	139740745	+	ENSG00000085871.8	protein_coding	GST2|MGST-II	4q31.1	microsomal glutathione S-transferase 2	The MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) family consists of six human proteins, several of which are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes a protein which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2011]
MGST3	chr1	165630861	165661796	+	ENSG00000143198.12	protein_coding	GST-III	1q24.1	microsomal glutathione S-transferase 3	This gene encodes a member of the MAPEG (Membrane Associated Proteins in Eicosanoid and Glutathione metabolism) protein family. Members of this family are involved in the production of leukotrienes and prostaglandin E, important mediators of inflammation. This gene encodes an enzyme which catalyzes the conjugation of leukotriene A4 and reduced glutathione to produce leukotriene C4. This enzyme also demonstrates glutathione-dependent peroxidase activity towards lipid hydroperoxides.[provided by RefSeq, May 2011]
MHENCR	chr20	 63627235	63628824	+	ENSG00000232442	ncRNA	-	20q13.33	melanoma highly expressed competing endogenous lncRNA for miR-425 and miR-489	-
MIA	chr19	40771648	40777490	+	ENSG00000261857.6	protein_coding	CD-RAP	19q13.2	MIA SH3 domain containing	Predicted to enable growth factor activity. Predicted to be involved in extracellular matrix organization. Predicted to act upstream of or within cell-matrix adhesion. Predicted to be located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
MIA2	chr14	39230231	39253639	+	ENSG00000150526.12	protein_coding	CTAGE5|MEA6|MGEA|MGEA11|MGEA6|TALI	14q21.1	MIA SH3 domain ER export factor 2	This gene encodes s receptor in the endoplasmic reticulum, which plays a role in the export of large pre-chylomicrons and pre-very low density lipoproteins (pre-VLDLs). Three major classes of transcripts are generated from this gene- melanoma inhibitory activity 2-specific transcripts, cTAGE family member 5-specific transcripts and transcripts that include exons from both these transcript species (TANGO1-like or TALI). Additionally, alternative splicing in these transcripts results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Sep 2016]
MIA3	chr1	222618086	222668012	+	ENSG00000154305.16	protein_coding	ARNT|D320|ODCD2|TANGO|TANGO1|UNQ6077	1q41	MIA SH3 domain ER export factor 3	Ubiquitous expression in testis (RPKM 13.9), prostate (RPKM 13.6) and 25 other tissues
MIAT	chr22	26646428	26676475	+	ENSG00000225783.6	lincRNA	C22orf35|GOMAFU|LINC00066|NCRNA00066|RNCR2|lncRNA-MIAT	22q12.1	myocardial infarction associated transcript	This gene encodes a spliced long non-coding RNA that may constitute a component of the nuclear matrix. Altered expression of this locus has been reported to be associated with a susceptibility to myocardial infarction. It has also been proposed that pathways involving this transcript may contribute to the pathophysiology of schizophrenia. A similar gene in mouse has been associated with retinal cell fate determination. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Dec 2014]
MIB1	chr18	21704957	21870957	+	ENSG00000101752.11	protein_coding	DIP-1|DIP1|LVNC7|MIB|ZZANK2|ZZZ6	18q11.2	MIB E3 ubiquitin protein ligase 1	This gene encodes a protein containing multiple ankyrin repeats and RING finger domains that functions as an E3 ubiquitin ligase. The encoded protein positively regulates Notch signaling by ubiquitinating the Notch receptors, thereby facilitating their endocytosis. This protein may also promote the ubiquitination and degradation of death-associated protein kinase 1 (DAPK1). [provided by RefSeq, Jun 2013]
MIB2	chr1	1615415	1630610	+	ENSG00000197530.12	protein_coding	ZZANK1|ZZZ5	1p36.33	MIB E3 ubiquitin protein ligase 2	The protein encoded by this gene is an E3 ubiquitin protein ligase that mediates ubiquitination of proteins in the Notch signaling pathway. The encoded protein may be a suppressor of melanoma invasion. [provided by RefSeq, Mar 2017]
MICA	chr6	31399784	31415315	+	ENSG00000204520.12	protein_coding	MIC-A|PERB11.1	6p21.33	MHC class I polypeptide-related sequence A	This gene encodes the highly polymorphic major histocompatability complex class I chain-related protein A. The protein product is expressed on the cell surface, although unlike canonical class I molecules it does not seem to associate with beta-2-microglobulin. It is a ligand for the NKG2-D type II integral membrane protein receptor. The protein functions as a stress-induced antigen that is broadly recognized by intestinal epithelial gamma delta T cells. Variations in this gene have been associated with susceptibility to psoriasis 1 and psoriatic arthritis, and the shedding of MICA-related antibodies and ligands is involved in the progression from monoclonal gammopathy of undetermined significance to multiple myeloma. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2014]
MICAL1	chr6	109444062	109465968	-	ENSG00000135596.17	protein_coding	MICAL|MICAL-1|NICAL	6q21	microtubule associated monooxygenase, calponin and LIM domain containing 1	This gene encodes an enzyme that oxidizes methionine residues on actin, thereby promoting depolymerization of actin filaments. This protein interacts with and regulates signalling by NEDD9/CAS-L (neural precursor cell expressed, developmentally down-regulated 9). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
MICAL2	chr11	12094008	12263789	+	ENSG00000133816.13	protein_coding	Ebitein1|MICAL-2|MICAL2PV1|MICAL2PV2|MICALCL	11p15.3	microtubule associated monooxygenase, calponin and LIM domain containing 2	The protein encoded by this gene is a monooxygenase that enhances depolymerization of F-actin and is therefore involved in cytoskeletal dynamics. The encoded protein is a regulator of the SRF signaling pathway. Increased expression of this gene has been associated with cancer progression and metastasis. [provided by RefSeq, Oct 2016]
MICAL3	chr22	17787649	18024559	-	ENSG00000243156.7	protein_coding	MICAL-3	22q11.21	microtubule associated monooxygenase, calponin and LIM domain containing 3	Enables actin binding activity. Involved in actin filament depolymerization. Located in several cellular components, including Flemming body; intercellular bridge; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
MICALL1	chr22	37905657	37942822	+	ENSG00000100139.13	protein_coding	MICAL-L1|MIRAB13	22q13.1	MICAL like 1	Ubiquitous expression in placenta (RPKM 11.0), esophagus (RPKM 10.9) and 25 other tissues
MICB	chr6	31494881	31511124	+	ENSG00000204516.9	protein_coding	PERB11.2	6p21.33	MHC class I polypeptide-related sequence B	This gene encodes a heavily glycosylated protein which is a ligand for the NKG2D type II receptor. Binding of the ligand activates the cytolytic response of natural killer (NK) cells, CD8 alphabeta T cells, and gammadelta T cells which express the receptor. This protein is stress-induced and is similar to MHC class I molecules; however, it does not associate with beta-2-microglobulin or bind peptides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
MICD	chr6	29970801	29972464	-	ENSG00000229390.1	unprocessed_pseudogene	PERB11.4	6p22.1	MHC class I polypeptide-related sequence D (pseudogene)	-
MICE	chr6	29741731	29748969	-	ENSG00000273340.1	transcribed_unprocessed_pseudogene	PERB11.5|dJ377H14.7	6p22.1	MHC class I polypeptide-related sequence E (pseudogene)	-
MICF	chr6	29852363	29852491	-	ENSG00000233265.1	unprocessed_pseudogene	-	6p22.1	MHC class I polypeptide-related sequence F (pseudogene)	-
MICOS10	chr1	 19596979	19629820	+	ENSG00000173436	protein-coding	C1orf151|MINOS1|MIO10|Mic10	1p36.13	mitochondrial contact site and cristae organizing system subunit 10	Predicted to be involved in inner mitochondrial membrane organization. Located in mitochondrion. Part of MIB complex; MICOS complex; and SAM complex. [provided by Alliance of Genome Resources, Apr 2022]
MICOS10P2	chr17	 64747035	64747540	-	-	pseudogene	MINOS1P2	17q24.1	MICOS10 pseudogene 2	-
MICOS13	chr19	 5678422	5680516	-	ENSG00000174917	protein-coding	C19orf70|MIC12|MIC13|P117|QIL1	19p13.3	mitochondrial contact site and cristae organizing system subunit 13	Ubiquitous expression in heart (RPKM 20.0), testis (RPKM 19.7) and 25 other tissues
MICU1	chr10	72367327	72626191	-	ENSG00000107745.17	protein_coding	CALC|CBARA1|EFHA3|MPXPS|ara CALC	10q22.1	mitochondrial calcium uptake 1	This gene encodes an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential in preventing mitochondrial Ca2+ overload, which can cause excessive production of reactive oxygen species and cell stress. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2013]
MID1IP1	chrX	38801432	38806537	+	ENSG00000165175.15	protein_coding	G12-like|MIG12|S14R|STRAIT11499|THRSPL	Xp11.4	MID1 interacting protein 1	Ubiquitous expression in bone marrow (RPKM 21.2), fat (RPKM 16.5) and 25 other tissues
MIDEAS	chr14	 73715122	73790285	-	ENSG00000156030	protein-coding	C14orf117|C14orf43|ELMSAN1|LSR68|c14_5541	14q24.3	mitotic deacetylase associated SANT domain protein	-
MIDN	chr19	1248553	1259140	+	ENSG00000167470.12	protein_coding	Stx	19p13.3	midnolin	Ubiquitous expression in bone marrow (RPKM 27.5), gall bladder (RPKM 18.8) and 25 other tissues
MIEF1	chr22	39499432	39518132	+	ENSG00000100335.13	protein_coding	AltMIEF1|HSU79252|MID51|MIEF1-MP|SMCR7L|dJ1104E15.3	22q13.1	mitochondrial elongation factor 1	Ubiquitous expression in testis (RPKM 13.7), kidney (RPKM 8.6) and 25 other tissues
MIEF2	chr17	18260534	18266552	+	ENSG00000177427.12	protein_coding	COXPD49|MID49|SMCR7	17p11.2	mitochondrial elongation factor 2	This gene encodes an outer mitochondrial membrane protein that functions in the regulation of mitochondrial morphology. It can directly recruit the fission mediator dynamin-related protein 1 (Drp1) to the mitochondrial surface. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
MIEN1	chr17	39728496	39730787	-	ENSG00000141741.11	protein_coding	C17orf37|C35|ORB3|RDX12|XTP4	17q12	migration and invasion enhancer 1	Ubiquitous expression in colon (RPKM 15.4), esophagus (RPKM 14.3) and 25 other tissues
MIER1	chr1	66924895	66988619	+	ENSG00000198160.14	protein_coding	ER1|MI-ER1	1p31.3	MIER1 transcriptional regulator	This gene encodes a protein that was first identified in Xenopus laevis by its role in a mesoderm induction early response (MIER). The encoded protein functions as a transcriptional regulator. Alternatively spliced transcript variants encode multiple isoforms, some of which lack a C-terminal nuclear localization signal. [provided by RefSeq, May 2013]
MIER3	chr5	56919602	56971675	-	ENSG00000155545.19	protein_coding	-	5q11.2	MIER family member 3	-
MIF	chr22	23894004	23895227	+	ENSG00000240972.1	protein_coding	GIF|GLIF|MMIF	22q11.23	macrophage migration inhibitory factor	This gene encodes a lymphokine involved in cell-mediated immunity, immunoregulation, and inflammation. It plays a role in the regulation of macrophage function in host defense through the suppression of anti-inflammatory effects of glucocorticoids. This lymphokine and the JAB1 protein form a complex in the cytosol near the peripheral plasma membrane, which may indicate an additional role in integrin signaling pathways. [provided by RefSeq, Jul 2008]
MIF-AS1	chr22	23894426	23898930	-	ENSG00000218537.1	antisense	MIF-AS	22q11.23	MIF antisense RNA 1	-
MIF4GD	chr17	75266228	75271227	-	ENSG00000125457.13	protein_coding	AD023|MIFD|SLIP1	17q25.1	MIF4G domain containing	This gene encodes a protein which interacts with the N-terminus of the stem-loop binding protein (SLBP) and the 3 end of histone mRNA. This interaction facilitates the activation of histone mRNA translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
MIGA1	chr1	77779624	77879539	+	ENSG00000180488.14	protein_coding	FAM73A	1p31.1	mitoguardin 1	Ubiquitous expression in brain (RPKM 8.8), thyroid (RPKM 7.5) and 25 other tissues
MIGA2	chr9	129036621	129072082	+	ENSG00000148343.18	protein_coding	C9orf54|FAM73B	9q34.11	mitoguardin 2	Ubiquitous expression in duodenum (RPKM 12.6), small intestine (RPKM 10.8) and 25 other tissues
MIIP	chr1	12019466	12032045	+	ENSG00000116691.10	protein_coding	IIP45	1p36.22	migration and invasion inhibitory protein	This gene encodes a protein that interacts with the oncogene protein insulin-like growth factor binding protein 2 and may function as an inhibitor of cell migration and invasion. This protein also interacts with the cell division protein 20 and may be involved in regulating mitotic progression. This protein may function as a tumor suppressor by inhibiting the growth or certain cancers. [provided by RefSeq, Sep 2011]
MILR1	chr17	64449037	64468643	+	ENSG00000271605.5	protein_coding	Allergin-1|C17orf60|MCA-32|MCA32	17q23.3	mast cell immunoglobulin like receptor 1	Broad expression in appendix (RPKM 7.6), lymph node (RPKM 6.4) and 21 other tissues
MINCR	chr8	143280161	143281690	-	ENSG00000253716.5	antisense	LINC01604	8q24.3	MYC-induced long non-coding RNA	Ubiquitous expression in fat (RPKM 4.1), thyroid (RPKM 2.9) and 25 other tissues
MINDY1	chr1	150996086	151008375	-	ENSG00000143409.15	protein_coding	FAM63A|MINDY-1	1q21.3	MINDY lysine 48 deubiquitinase 1	Ubiquitous expression in thyroid (RPKM 17.7), testis (RPKM 8.4) and 25 other tissues
MINDY2	chr15	58771192	58861900	+	ENSG00000128923.10	protein_coding	FAM63B	15q21.3-q22.1	MINDY lysine 48 deubiquitinase 2	Ubiquitous expression in brain (RPKM 6.3), fat (RPKM 6.3) and 25 other tissues
MINDY4	chr7	30771417	30892387	+	ENSG00000106125.14	protein_coding	AQP-1|AQP1|C7orf67|CHIP28|FAM188B	7p14.3	MINDY lysine 48 deubiquitinase 4	Broad expression in testis (RPKM 8.1), lung (RPKM 5.5) and 25 other tissues
MINK1	chr17	4833388	4898061	+	ENSG00000141503.15	protein_coding	B55|MAP4K6|MINK|YSK2|ZC3	17p13.2	misshapen like kinase 1	This gene encodes a serine/threonine kinase belonging to the germinal center kinase (GCK) family. The protein is structurally similar to the kinases that are related to NIK and may belong to a distinct subfamily of NIK-related kinases within the GCK family. Studies of the mouse homolog indicate an up-regulation of expression in the course of postnatal mouse cerebral development and activation of the cJun N-terminal kinase (JNK) and the p38 pathways. [provided by RefSeq, Mar 2016]
MINPP1	chr10	87504875	87553460	+	ENSG00000107789.15	protein_coding	HIPER1|MINPP2|MIPP|PCH16	10q23.2	multiple inositol-polyphosphate phosphatase 1	This gene encodes multiple inositol polyphosphate phosphatase; an enzyme that removes 3-phosphate from inositol phosphate substrates. It is the only enzyme known to hydrolzye inositol pentakisphosphate and inositol hexakisphosphate. This enzyme also converts 2,3 bisphosphoglycerate (2,3-BPG) to 2-phosphoglycerate; an activity formerly thought to be exclusive to 2,3-BPG synthase/2-phosphatase (BPGM) in the Rapoport-Luebering shunt of the glycolytic pathway.[provided by RefSeq, Sep 2009]
MIOX	chr22	50486784	50490648	+	ENSG00000100253.12	protein_coding	ALDRL6	22q13.33	myo-inositol oxygenase	Enables ferric iron binding activity and inositol oxygenase activity. Involved in inositol catabolic process. Predicted to be located in cytoplasm and inclusion body. [provided by Alliance of Genome Resources, Apr 2022]
MIP	chr12	56449502	56469166	-	ENSG00000135517.6	protein_coding	AQP0|CTRCT15|LIM1|MIP26|MP26	12q13.3	major intrinsic protein of lens fiber	Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP family of channel proteins. The function of the fiber cell membrane protein encoded by this gene is undetermined, yet this protein is speculated to play a role in intracellular communication. The MIP protein is expressed in the ocular lens and is required for correct lens function. This gene has been mapped among aquaporins AQP2, AQP5, and AQP6, in a potential gene cluster at 12q13. [provided by RefSeq, Jul 2008]
MIPOL1	chr14	37197913	37552361	+	ENSG00000151338.18	protein_coding	CCDC193	14q13.3-q21.1	mirror-image polydactyly 1	This gene encodes a coiled-coil domain-containing protein. The encoded protein may function as a tumor suppressor. A translocation that results in truncation of the protein encoded by this locus has been associated with mirror-image polydactyly, also known as Laurin-Sandrow Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Sep 2010]
MIR1-1HG	chr20	62550453	62570764	+	ENSG00000174407.13	antisense	C20orf166|MIR133A2HG	20q13.33	MIR1-1 host gene	Biased expression in heart (RPKM 1.7), prostate (RPKM 1.3) and 3 other tissues
MIR100HG	chr11	122028327	122556721	-	ENSG00000255248.7	processed_transcript	AGD1|linc-NeD125|lncRNA-N2	11q24.1	mir-100-let-7a-2-mir-125b-1 cluster host gene	This gene produces long non-coding RNAs that act as regulators of cell proliferation. Alternative promoter usage and splicing results in multiple transcript variants. Some transcript variants may promote growth, while others may act to negatively regulate cell division. [provided by RefSeq, May 2016]
MIR10A	chr17	48579838	48579947	-	ENSG00000284038.1	miRNA	MIRN10A|hsa-mir-10a|miRNA10A|mir-10a	17q21.32	microRNA 10a	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR1199	chr19	14073361	14073479	+	ENSG00000284081.1	miRNA	hsa-mir-1199	19p13.12	microRNA 1199	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR1225	chr16	2090195	2090284	-	ENSG00000221656.1	miRNA	MIRN1225	16p13.3	microRNA 1225	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR124-1HG	chr8	 9900064	9903329	-	ENSG00000253230	ncRNA	LINC00599|Rncr3|neuroLNC	8p23.1	MIR124-1 host gene	-
MIR1254-1	chr10	68759318	68759414	+	ENSG00000221184.1	miRNA	-	-	-	-
MIR126	chr9	136670602	136670686	+	ENSG00000199161.1	miRNA	MIRN126|miRNA126|mir-126	9q34.3	microRNA 126	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR1276	chr15	85770496	85770578	-	ENSG00000221634.1	miRNA	MIRN1276|hsa-mir-1276|mir-1276	15q25.3	microRNA 1276	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR1285-1	chr7	92204015	92204098	-	ENSG00000221520.1	miRNA	MIRN1285-1|hsa-mir-1285-1	7q21.2	microRNA 1285-1	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR137HG	chr1	97986740	98049863	-	ENSG00000225206.8	lincRNA	-	1p21.3	MIR137 host gene	-
MIR1539	chr18	49487339	49491878	+	ENSG00000265496.5	antisense	MIRN1539|hsa-mir-1539	18q21.1	microRNA 1539	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR155HG	chr21	25561909	25575168	+	ENSG00000234883.5	lincRNA	BIC|MIRHG2|NCRNA00172|miPEP155	-	MIR155 host gene	This gene represents a microRNA host gene. The long RNA transcribed from this gene is expressed at high levels in lymphoma and may function as an oncogene. [provided by RefSeq, Dec 2017]
MIR17HG	chr13	91347820	91354579	+	ENSG00000215417.12	processed_transcript	C13orf25|FGLDS2|LINC00048|MIHG1|MIRH1|MIRHG1|NCRNA00048|miR-17-92	13q31.3	miR-17-92a-1 cluster host gene	This gene is the host gene for the MIR17-92 cluster, a group of at least six microRNAs (miRNAs) that may be involved in cell survival, proliferation, differentiation, and angiogenesis. Amplification of this gene has been found in several lymphomas and solid tumors. Two non-protein coding transcript variants have been found for this host gene, but only the longest is a polycistronic transcript containing the MIR17-92 cluster. [provided by RefSeq, May 2012]
MIR181A2HG	chr9	124658467	124698631	+	ENSG00000224020.1	antisense	-	9q33.3	MIR181A2 host gene	-
MIR1915HG	chr10	 21492658	21497260	-	ENSG00000204682	ncRNA	C10orf114|CASC10|bA418C1.3	10p12.31	MIR1915 host gene	Broad expression in kidney (RPKM 3.7), liver (RPKM 3.6) and 15 other tissues
MIR193BHG	chr16	14301389	14326744	+	ENSG00000262454.2	lincRNA	lincNORS	16p13.12	MIR193b-365a host gene	Broad expression in fat (RPKM 4.2), testis (RPKM 3.7) and 17 other tissues
MIR194-2	chr11	64891355	64891439	-	ENSG00000284155.1	miRNA	MIRN194-2|mir-194-2	11q13.1	microRNA 194-2	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR199A2	chr1	172144535	172144644	-	ENSG00000208024.1	miRNA	MIR-199-s|MIRN199A2|mir-199a-2	1q24.3	microRNA 199a-2	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR200CHG	chr12	 6963245	6964447	+	ENSG00000257084	ncRNA	U47924.27	12p13.31	MIR200C and MIR141 host gene	Biased expression in prostate (RPKM 7.1), duodenum (RPKM 4.3) and 13 other tissues
MIR202HG	chr10	133246478	133247891	-	ENSG00000166917.10	antisense	-	10q26.3	MIR202 host gene	-
MIR210	chr11	568089	568198	-	ENSG00000199038.1	miRNA	MIRN210|mir-210	11p15.5	microRNA 210	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR210HG	chr11	565660	568457	-	ENSG00000247095.2	lincRNA	-	11p15.5	MIR210 host gene	-
MIR22HG	chr17	1711493	1717174	-	ENSG00000186594.14	lincRNA	C17orf91	17p13.3	MIR22 host gene	Ubiquitous expression in adrenal (RPKM 35.5), bone marrow (RPKM 31.9) and 24 other tissues
MIR26A2	chr12	57824609	57824692	-	ENSG00000207789.1	miRNA	MIRN26A2|mir-26a-2	12q14.1	microRNA 26a-2	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR29B1	chr7	130877459	130877539	-	ENSG00000283797.1	miRNA	MIRN29B1|miR-29b|miRNA29B1|mir-29b-1	7q32.3	microRNA 29b-1	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR29B2CHG	chr1	 207801518	207822703	-	-	ncRNA	C1orf132	1q32.2	MIR29B2 and MIR29C host gene	-
MIR3131	chr2	219058688	219058750	-	ENSG00000264755.1	miRNA	mir-3131	2q35	microRNA 3131	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR3164	chr11	69083176	69083258	+	ENSG00000265539.1	miRNA	-	11q13.3	microRNA 3164	-
MIR3180-4	chr16	15154850	15155002	-	ENSG00000264115.1	miRNA	mir-3180-4	16p13.11	microRNA 3180-4	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR3186	chr17	81451104	81451188	-	ENSG00000266189.1	miRNA	mir-3186	17q25.3	microRNA 3186	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR31HG	chr9	21455642	21559669	-	ENSG00000171889.3	sense_overlapping	LncHIFCAR|hsa-lnc-31	9p21.3	MIR31 host gene	This gene produces a long non-coding RNA that acts as a host gene for miR-31. This transcript may be involved in cellular pluripotency and regulate the differentiation of myoblasts and other tissues. This RNA was found to interact with Polycomb repressive proteins to repression transcription of genes involves in cell senescence. [provided by RefSeq, Dec 2017]
MIR324	chr17	7223297	7223379	-	ENSG00000199053.3	miRNA	MIRN324|hsa-mir-324|mir-324	17p13.1	microRNA 324	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR33B	chr17	17813836	17813931	-	ENSG00000207839.1	miRNA	MIRN33B|hsa-mir-33b|mir-33b	17p11.2	microRNA 33b	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR34A	chr1	9151668	9151777	-	ENSG00000284357.1	miRNA	MIRN34A|miRNA34A|mir-34|mir-34a	1p36.22|1p36.22	microRNA 34a	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. This miRNA is a member of the highly conserved miR-34 family. This miRNA functions as a tumor suppressor and dysregulation or loss of the host gene from which this miRNA is processed is associated with cancer progression in numerous cell types. [provided by RefSeq, Sep 2015]
MIR34AHG	chr1	9148011	9196983	-	ENSG00000228526.6	lincRNA	-	1p36.22	MIR34A host gene	-
MIR3605	chr1	33332393	33332492	-	ENSG00000284154.1	miRNA	mir-3605	1p35.1	microRNA 3605	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR3613	chr13	49996415	49996501	-	ENSG00000264864.1	miRNA	-	13q14.2	microRNA 3613	-
MIR3655	chr5	140647844	140647926	+	ENSG00000284325.1	miRNA	-	5q31.3	microRNA 3655	-
MIR3667HG	chr22	 49414524	49657519	-	ENSG00000188511	ncRNA	C22orf34	22q13.33	MIR3667 host gene	-
MIR3911	chr9	127690687	127690795	-	ENSG00000283874.1	miRNA	mir-3911	9q34.11	microRNA 3911	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR3934	chr6	33698128	33698234	+	ENSG00000266509.1	miRNA	-	6p21.31	microRNA 3934	-
MIR3936	chr5	132365490	132365599	-	ENSG00000263597.1	miRNA	mir-3936	5q31.1	microRNA 3936	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR3936HG	chr5	 132311276	132369916	-	ENSG00000233006	ncRNA	SLC22A5-AS1	5q31.1	MIR3936 host gene	Ubiquitous expression in kidney (RPKM 2.4), prostate (RPKM 1.9) and 25 other tissues
MIR4258	chr1	154975693	154975783	+	ENSG00000264349.1	miRNA	-	1q21.3	microRNA 4258	-
MIR4263	chr2	27996367	27996449	+	ENSG00000265321.1	miRNA	-	2p23.2	microRNA 4263	-
MIR4313	chr15	75762215	75762315	-	ENSG00000284385.1	miRNA	-	15q24.2	microRNA 4313	-
MIR4435-2HG	chr2	111196350	111495100	-	ENSG00000172965.14	lincRNA	AGD2|LINC00978|MIR4435-1HG|MORRBID|lncRNA-AWPPH	2q13	MIR4435-2 host gene	Ubiquitous expression in appendix (RPKM 2.9), placenta (RPKM 2.8) and 24 other tissues
MIR4453	chr4	152536428	152536516	+	ENSG00000283792.1	miRNA	-	4q31.3	microRNA 4453	-
MIR4635	chr5	1062896	1062974	-	ENSG00000263834.1	miRNA	-	5p15.33	microRNA 4635	-
MIR4700	chr12	120723193	120723266	+	ENSG00000284143.1	miRNA	mir-4700	12q24.31	microRNA 4700	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR4721	chr16	28843919	28844007	-	ENSG00000283845.1	miRNA	-	16p11.2	microRNA 4721	-
MIR4741	chr18	22933349	22933438	+	ENSG00000284331.1	miRNA	mir-4741	18q11.2	microRNA 4741	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR4742	chr1	224398227	224398311	-	ENSG00000266618.1	miRNA	mir-4742	1q42.11	microRNA 4742	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR4763	chr22	46113566	46113657	+	ENSG00000284175.1	miRNA	-	22q13.31	microRNA 4763	-
MIR4793	chr3	48644194	48644280	-	ENSG00000284575.1	miRNA	-	3p21.31	microRNA 4793	-
MIR486-1	chr8	41660441	41660508	-	ENSG00000274705.2	miRNA	MIR486|MIRN486|hsa-mir-486|hsa-mir-486-1|mir-486-1	8p11.21	microRNA 486-1	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR490	chr7	136903167	136903294	+	ENSG00000207597.1	miRNA	MIRN490|hsa-mir-490|miR-490	7q33	microRNA 490	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR497HG	chr17	7015818	7019659	-	ENSG00000267532.5	antisense	MIR195HG	17p13.1	mir-497-195 cluster host gene	Ubiquitous expression in spleen (RPKM 14.2), bone marrow (RPKM 14.1) and 25 other tissues
MIR499A	chr20	34990376	34990497	+	ENSG00000207635.1	miRNA	MIR499|MIRN499|hsa-mir-499a|mir-499a	20q11.22	microRNA 499a	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR5001	chr2	232550474	232550573	-	ENSG00000284407.1	miRNA	mir-5001	2q37.1	microRNA 5001	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR5008	chr1	227941590	227941683	-	ENSG00000264483.1	miRNA	-	1q42.13	microRNA 5008	-
MIR5010	chr17	42514188	42514307	+	ENSG00000283929.1	miRNA	mir-5010	17q21.2	microRNA 5010	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR5047	chr17	64501214	64501313	-	ENSG00000284368.1	miRNA	-	17q23.3	microRNA 5047	-
MIR5193	chr3	49806137	49806245	-	ENSG00000283726.1	miRNA	mir-5193	3p21.31	microRNA 5193	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR5194	chr8	130008334	130008453	-	ENSG00000264653.1	miRNA	mir-5194	8q24.21	microRNA 5194	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR555	chr1	155346350	155346445	-	ENSG00000283701.1	miRNA	MIRN555|hsa-mir-555	1q22	microRNA 555	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR567	chr3	112112801	112112898	+	ENSG00000207940.1	miRNA	MIRN567|hsa-mir-567	3q13.2	microRNA 567	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR583HG	chr5	96050115	96215519	+	ENSG00000250551.1	lincRNA	-	5q15	MIR583 host gene	-
MIR600HG	chr9	123109494	123115477	-	ENSG00000236901.6	sense_intronic	C9orf45|GL012|NCRNA00287	9q33.3	MIR600 host gene	-
MIR6080	chr17	64780759	64780824	+	ENSG00000278581.1	miRNA	hsa-mir-6080	17q24.1	microRNA 6080	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR611	chr11	61792495	61792561	-	ENSG00000284108.1	miRNA	MIRN611|hsa-mir-611	11q12.2	microRNA 611	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR616	chr12	57519163	57519259	-	ENSG00000208028.1	miRNA	MIRN616|hsa-mir-616	12q13.3	microRNA 616	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR632	chr17	32350109	32350202	+	ENSG00000283774.1	miRNA	MIRN632|hsa-mir-632	17q11.2	microRNA 632	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR635	chr17	68424451	68424548	-	ENSG00000207561.1	miRNA	MIRN635|hsa-mir-635	17q24.2	microRNA 635	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR642A	chr19	45674928	45675024	+	ENSG00000207773.1	miRNA	MIR642|MIRN642|hsa-mir-642|hsa-mir-642a|mir-642a	19q13.32	microRNA 642a	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR644A	chr20	34466325	34466418	+	ENSG00000207997.1	miRNA	MIR644|MIRN644|hsa-mir-644|hsa-mir-644a	20q11.22	microRNA 644a	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR647	chr20	63942631	63942726	-	ENSG00000207554.1	miRNA	MIRN647|hsa-mir-647	20q13.33	microRNA 647	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR658	chr22	37844272	37844371	-	ENSG00000284197.1	miRNA	MIRN658|hsa-mir-658	22q13.1	microRNA 658	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR663AHG	chr20	26186920	26251526	-	ENSG00000227195.10	processed_transcript	-	20p11.1	MIR663A host gene	-
MIR6883	chr17	8144994	8145071	-	ENSG00000284117.1	miRNA	hsa-mir-6883	17p13.1	microRNA 6883	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR6891	chr6	31355224	31355316	-	ENSG00000277402.1	miRNA	hsa-mir-6891	6p21.33	microRNA 6891	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR7-3HG	chr19	4769140	4772533	+	ENSG00000176840.11	lincRNA	C19orf30|Huh7|LINC00306|NCRNA00306|PGSF1|uc002mbe.2	19p13.3	MIR7-3 host gene	Biased expression in brain (RPKM 5.9), testis (RPKM 2.8) and 4 other tissues
MIR711	chr3	48578902	48578977	-	ENSG00000284251.1	miRNA	hsa-mir-711	3p21.31	microRNA 711	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR762HG	chr16	30875222	30895220	+	ENSG00000260083.1	antisense	-	16p11.2	MIR762 host gene	-
MIR765	chr1	156936131	156936244	-	ENSG00000211581.1	miRNA	MIRN765|hsa-mir-765|mir-765	1q23.1	microRNA 765	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR8072	chr12	123364764	123364843	-	ENSG00000284425.1	miRNA	hsa-mir-8072	12q24.31	microRNA 8072	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIR9-1HG	chr1	 156404252	156429548	-	ENSG00000125462	ncRNA	C1orf61|CROC4	1q22	MIR9-1 host gene	-
MIR9-3HG	chr15	89361579	89398487	+	ENSG00000255571.8	lincRNA	LINC00925	15q26.1	MIR9-3 host gene	Biased expression in brain (RPKM 10.1), testis (RPKM 6.8) and 2 other tissues
MIR924HG	chr18	 39206924	39751995	-	ENSG00000267374	ncRNA	LINC00669	18q12.2-q12.3	MIR924 host gene	Biased expression in testis (RPKM 1.7), skin (RPKM 0.3) and 8 other tissues
MIR940	chr16	2271747	2271840	+	ENSG00000284346.1	miRNA	MIRN940|hsa-mir-940|mir-940	16p13.3	microRNA 940	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIRLET7A1	chr9	94175957	94176036	+	ENSG00000199165.3	miRNA	LET7A1|MIRNLET7A1|let-7a-1	9q22.32	microRNA let-7a-1	microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]
MIRLET7BHG	chr22	46053869	46113928	+	ENSG00000197182.14	lincRNA	linc-Ppara	22q13.31	MIRLET7B host gene	Biased expression in skin (RPKM 5.0), placenta (RPKM 2.2) and 12 other tissues
MIS12	chr17	5486285	5490814	+	ENSG00000167842.15	protein_coding	2510025F08Rik|KNTC2AP|MTW1|hMis12	17p13.2	MIS12 kinetochore complex component	Ubiquitous expression in thyroid (RPKM 7.6), lymph node (RPKM 6.6) and 25 other tissues
MIS18A	chr21	32268219	32279069	-	ENSG00000159055.3	protein_coding	B28|C21orf45|C21orf46|FASP1|MIS18alpha|hMis18alpha	21q22.11	MIS18 kinetochore protein A	Broad expression in testis (RPKM 8.3), bone marrow (RPKM 3.6) and 24 other tissues
MISP	chr19	751126	764318	+	ENSG00000099812.8	protein_coding	C19orf21|MISP1	19p13.3	mitotic spindle positioning	The protein encoded by this gene is an actin-bundling protein involved in determining cell morphology and mitotic progression. The encoded protein is required for the proper positioning of the mitotic spindle. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Feb 2016]
MITD1	chr2	99161427	99181058	-	ENSG00000158411.11	protein_coding	-	2q11.2	microtubule interacting and trafficking domain containing 1	Ubiquitous expression in lymph node (RPKM 12.5), appendix (RPKM 10.4) and 25 other tissues
MITF	chr3	69739435	69968337	+	ENSG00000187098.14	protein_coding	CMM8|COMMAD|MI|MITF-A|WS2|WS2A|bHLHe32	3p13	melanocyte inducing transcription factor	The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017]
MIX23	chr3	 122359591	122383231	-	ENSG00000160124	protein-coding	CCDC58	3q21.1	mitochondrial matrix import factor 23	-
MIXL1	chr1	226223618	226227054	+	ENSG00000185155.11	protein_coding	MILD1|MIX|MIXL	1q42.12	Mix paired-like homeobox	Homeodomain proteins, such as MIXL1, are transcription factors that regulate cell fate during development (Hart et al., 2005 [PubMed 15982639]).[supplied by OMIM, Mar 2008]
MKKS	chr20	10401009	10434222	-	ENSG00000125863.18	protein_coding	BBS6|HMCS|KMS|MKS	20p12.2	MKKS centrosomal shuttling protein	This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
MKLN1	chr7	131110096	131496636	+	ENSG00000128585.17	protein_coding	TWA2	7q32.3	muskelin 1	Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008]
MKLN1-AS	chr7	131309744	131328222	-	ENSG00000236753.5	processed_transcript	MKLN1-AS2	7q32.3	MKLN1 antisense RNA	Ubiquitous expression in small intestine (RPKM 1.7), duodenum (RPKM 1.4) and 25 other tissues
MKNK1	chr1	46557408	46616843	-	ENSG00000079277.19	protein_coding	MNK1	1p33	MAPK interacting serine/threonine kinase 1	This gene encodes a Ser/Thr protein kinase that interacts with, and is activated by ERK1 and p38 mitogen-activated protein kinases, and thus may play a role in the response to environmental stress and cytokines. This kinase may also regulate transcription by phosphorylating eIF4E via interaction with the C-terminal region of eIF4G. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2012]
MKNK1-AS1	chr1	46538696	46570255	+	ENSG00000269956.1	antisense	-	1p33	MKNK1 antisense RNA 1	-
MKNK2	chr19	2037465	2051244	-	ENSG00000099875.14	protein_coding	GPRK7|MNK2	19p13.3	MAPK interacting serine/threonine kinase 2	This gene encodes a member of the calcium/calmodulin-dependent protein kinases (CAMK) Ser/Thr protein kinase family, which belongs to the protein kinase superfamily. This protein contains conserved DLG (asp-leu-gly) and ENIL (glu-asn-ile-leu) motifs, and an N-terminal polybasic region which binds importin A and the translation factor scaffold protein eukaryotic initiation factor 4G (eIF4G). This protein is one of the downstream kinases activated by mitogen-activated protein (MAP) kinases. It phosphorylates the eukaryotic initiation factor 4E (eIF4E), thus playing important roles in the initiation of mRNA translation, oncogenic transformation and malignant cell proliferation. In addition to eIF4E, this protein also interacts with von Hippel-Lindau tumor suppressor (VHL), ring-box 1 (Rbx1) and Cullin2 (Cul2), which are all components of the CBC(VHL) ubiquitin ligase E3 complex. Multiple alternatively spliced transcript variants have been found, but the full-length nature and biological activity of only two variants are determined. These two variants encode distinct isoforms which differ in activity and regulation, and in subcellular localization. [provided by RefSeq, Aug 2011]
MKRN1	chr7	140453040	140479569	-	ENSG00000133606.10	protein_coding	RNF61	7q34	makorin ring finger protein 1	This gene encodes a protein that belongs to a novel class of zinc finger proteins. The encoded protein functions as a transcriptional co-regulator, and as an E3 ubiquitin ligase that promotes the ubiquitination and proteasomal degradation of target proteins. The protein encoded by this gene is thought to regulate RNA polymerase II-catalyzed transcription. Substrates for this proteins E3 ubiquitin ligase activity include the capsid protein of the West Nile virus and the catalytic subunit of the telomerase ribonucleoprotein. This protein controls cell cycle arrest and apoptosis by regulating p21, a cell cycle regulator, and the tumor suppressor protein p53. Pseudogenes of this gene are present on chromosomes 1, 3, 9, 12 and 20, and on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
MKRN2	chr3	12557014	12583713	+	ENSG00000075975.15	protein_coding	HSPC070|RNF62	3p25.2	makorin ring finger protein 2	This gene encodes a probable E3 ubiquitin ligase containing several zinc finger domains, that is a member of the makorin RING zinc-finger protein family. This gene overlaps the v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) gene in an antisense orientation and may have a co-regulatory function with RAF1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
MKRN2OS	chr3	12514934	12561059	-	ENSG00000225526.4	protein_coding	C3orf83|MKRN2-AS1	3p25.2	MKRN2 opposite strand	Broad expression in small intestine (RPKM 1.1), duodenum (RPKM 1.1) and 22 other tissues
MKS1	chr17	58205437	58219605	-	ENSG00000011143.16	protein_coding	BBS13|JBTS28|MES|MKS|POC12	17q22	MKS transition zone complex subunit 1	The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
MKX	chr10	27672875	27746060	-	ENSG00000150051.13	protein_coding	C10orf48|IFRX|IRXL1	10p12.1	mohawk homeobox	The protein encoded by this gene is an IRX family-related homeobox protein that may play a role in cell adhesion. Studies in mice suggest that this protein may be a regulator of tendon development. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jun 2011]
MLANA	chr9	5890802	5910606	+	ENSG00000120215.9	protein_coding	MART-1|MART1	9p24.1	melan-A	Biased expression in skin (RPKM 15.6) and colon (RPKM 0.2)
MLC1	chr22	50059391	50085902	-	ENSG00000100427.15	protein_coding	LVM|MLC|VL	22q13.33	modulator of VRAC current 1	The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
MLEC	chr12	120686869	120701864	+	ENSG00000110917.7	protein_coding	KIAA0152	12q24.31	malectin	This gene encodes the carbohydrate-binding protein malectin which is a Type I membrane-anchored endoplasmic reticulum protein. This protein has an affinity for Glc2Man9GlcNAc2 (G2M9) N-glycans and is involved in regulating glycosylation in the endoplasmic reticulum. This protein has also been shown to interact with ribophorin I and may be involved in the directing the degradation of misfolded proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
MLF1	chr3	158571163	158607252	+	ENSG00000178053.17	protein_coding	-	3q25.32	myeloid leukemia factor 1	Biased expression in testis (RPKM 97.9), heart (RPKM 24.2) and 4 other tissues
MLF2	chr12	6747996	6767475	-	ENSG00000089693.10	protein_coding	NTN4	12p13.31	myeloid leukemia factor 2	Ubiquitous expression in brain (RPKM 67.7), prostate (RPKM 51.7) and 25 other tissues
MLH1	chr3	36993332	37050918	+	ENSG00000076242.14	protein_coding	COCA2|FCC2|HNPCC|HNPCC2|MMRCS1|hMLH1	3p22.2	mutL homolog 1	The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017]
MLH3	chr14	75013764	75051532	-	ENSG00000119684.15	protein_coding	HNPCC7	14q24.3	mutL homolog 3	This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]
MLIP	chr6	53929982	54266280	+	ENSG00000146147.14	protein_coding	C6orf142|CIP	6p12.1	muscular LMNA interacting protein	Biased expression in heart (RPKM 11.0), liver (RPKM 1.8) and 1 other tissue
MLIP-AS1	chr6	53978549	54079726	-	ENSG00000235050.6	antisense	-	6p12.1	MLIP antisense RNA 1	-
MLKL	chr16	74671855	74700960	-	ENSG00000168404.12	protein_coding	hMLKL	16q23.1	mixed lineage kinase domain like pseudokinase	This gene belongs to the protein kinase superfamily. The encoded protein contains a protein kinase-like domain; however, is thought to be inactive because it lacks several residues required for activity. This protein plays a critical role in tumor necrosis factor (TNF)-induced necroptosis, a programmed cell death process, via interaction with receptor-interacting protein 3 (RIP3), which is a key signaling molecule in necroptosis pathway. Inhibitor studies and knockdown of this gene inhibited TNF-induced necrosis. High levels of this protein and RIP3 are associated with inflammatory bowel disease in children. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2015]
MLLT1	chr19	6210379	6279948	-	ENSG00000130382.8	protein_coding	ENL|LTG19|YEATS1	19p13.3	MLLT1 super elongation complex subunit	Predicted to be involved in regulation of transcription, DNA-templated. Predicted to act upstream of or within negative regulation of protein kinase activity. Located in cytosol; fibrillar center; and nucleoplasm. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Apr 2022]
MLLT10	chr10	21524675	21743630	+	ENSG00000078403.16	protein_coding	AF10	10p12.31	MLLT10 histone lysine methyltransferase DOT1L cofactor	This gene encodes a transcription factor and has been identified as a partner gene involved in several chromosomal rearrangements resulting in various leukemias. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]
MLLT10P1	chr20	30403123	30403384	-	ENSG00000238151.1	processed_pseudogene	MLLT10L|bA348I14.3	20q11.21	MLLT10 pseudogene 1	-
MLLT11	chr1	151057758	151068497	+	ENSG00000213190.3	protein_coding	AF1Q	1q21.3	MLLT11 transcription factor 7 cofactor	The gene variously symbolized ALL1, HRX, or MLL located on 11q23 has been demonstrated to be fused with a number of translocation partners in cases of leukemia. t(1;11)(q21;q23) translocations that fused the MLL gene to a gene on chromosomal band 1q21 in 2 infants with acute myelomonocytic leukemia have been demonstrated. The N-terminal portion of the MLL gene is critical for leukemogenesis in translocations involving band 11q23. This gene encodes 90 amino acids. It was found to be highly expressed in the thymus but not in peripheral lymphoid tissues. In contrast to its restricted distribution in normal hematopoietic tissue, this gene was expressed in all leukemic cell lines tested. [provided by RefSeq, Jul 2008]
MLLT3	chr9	20341665	20622543	-	ENSG00000171843.15	protein_coding	AF9|YEATS3	9p21.3	MLLT3 super elongation complex subunit	Ubiquitous expression in thyroid (RPKM 6.2), colon (RPKM 4.6) and 23 other tissues
MLLT6	chr17	38705542	38729803	+	ENSG00000275023.4	protein_coding	AF17	17q12	MLLT6, PHD finger containing	Ubiquitous expression in spleen (RPKM 30.7), ovary (RPKM 26.5) and 25 other tissues
MLN	chr6	33794673	33804011	-	ENSG00000096395.10	protein_coding	-	6p21.31	motilin	Restricted expression toward duodenum (RPKM 82.5)
MLPH	chr2	237485428	237555318	+	ENSG00000115648.13	protein_coding	SLAC2-A	2q37.3	melanophilin	This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
MLST8	chr16	2204248	2209416	+	ENSG00000167965.17	protein_coding	GBL|GbetaL|LST8|POP3|WAT1	16p13.3	MTOR associated protein, LST8 homolog	Ubiquitous expression in testis (RPKM 10.4), brain (RPKM 8.7) and 25 other tissues
MLX	chr17	42567068	42573239	+	ENSG00000108788.11	protein_coding	MAD7|MXD7|TCFL4|TF4|bHLHd13	17q21.2	MAX dimerization protein MLX	The product of this gene belongs to the family of basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factors. These factors form heterodimers with Mad proteins and play a role in proliferation, determination and differentiation. This gene product may act to diversify Mad family function by its restricted association with a subset of the Mad family of transcriptional repressors, namely, Mad1 and Mad4. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
MLXIP	chr12	122078722	122147347	+	ENSG00000175727.13	protein_coding	MIR|MONDOA|bHLHe36	12q24.31	MLX interacting protein	This gene encodes a protein that functions as part of a heterodimer to activate transcription. The encoded protein forms a heterodimer with Max-like protein X (MLX) and is involved in the regulation of genes in response to cellular glucose levels. [provided by RefSeq, Mar 2014]
MLXIPL	chr7	73593194	73624543	-	ENSG00000009950.15	protein_coding	CHREBP|MIO|MLX|MONDOB|WBSCR14|WS-bHLH|bHLHd14	7q11.23	MLX interacting protein like	This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily. This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
MMAA	chr4	145618263	145660035	+	ENSG00000151611.13	protein_coding	cblA	4q31.21	metabolism of cobalamin associated A	The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
MMAB	chr12	109553737	109573874	-	ENSG00000139428.11	protein_coding	ATR|CFAP23|cblB|cob	12q24.11	metabolism of cobalamin associated B	This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]
MMACHC	chr1	45500053	45513382	+	ENSG00000132763.14	protein_coding	cblC	1p34.1	metabolism of cobalamin associated C	The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]
MMADHC	chr2	149569634	149587816	-	ENSG00000168288.12	protein_coding	C2orf25|CL25022|cblD	2q23.2	metabolism of cobalamin associated D	This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]
MMD	chr17	55392613	55421992	-	ENSG00000108960.7	protein_coding	MMA|MMD1|PAQR11	17q22	monocyte to macrophage differentiation associated	This protein is expressed by in vitro differentiated macrophages but not freshly isolated monocytes. Although sequence analysis identifies seven potential transmembrane domains, this protein has little homology to G-protein receptors and it has not been positively identified as a receptor. A suggested alternative function is that of an ion channel protein in maturing macrophages. [provided by RefSeq, Jul 2008]
MME	chr3	155024124	155183729	+	ENSG00000196549.10	protein_coding	CALLA|CD10|CMT2T|NEP|SCA43|SFE	3q25.2	membrane metalloendopeptidase	The protein encoded by this gene is a type II transmembrane glycoprotein and a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). The encoded protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. [provided by RefSeq, Aug 2017]
MMEL1	chr1	2590639	2632990	-	ENSG00000142606.15	protein_coding	MMEL2|NEP2|NEPII|NL1|NL2|SEP	1p36.32	membrane metalloendopeptidase like 1	The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. This protein is a type II transmembrane protein and is thought to be expressed as a secreted protein. This gene is expressed mainly in testis with weak expression in the brain, kidney, and heart. [provided by RefSeq, Jul 2008]
MMP1	chr11	102789920	102798160	-	ENSG00000196611.4	protein_coding	CLG|CLGN	11q22.2	matrix metallopeptidase 1	This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down the interstitial collagens, including types I, II, and III. The gene is part of a cluster of MMP genes on chromosome 11. Mutations in this gene are associated with chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
MMP11	chr22	23768226	23784316	+	ENSG00000099953.9	protein_coding	SL-3|ST3|STMY3	22q11.23	matrix metallopeptidase 11	Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMPs are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the enzyme encoded by this gene is activated intracellularly by furin within the constitutive secretory pathway. Also in contrast to other MMPs, this enzyme cleaves alpha 1-proteinase inhibitor but weakly degrades structural proteins of the extracellular matrix. [provided by RefSeq, Jul 2008]
MMP14	chr14	22836557	22849027	+	ENSG00000157227.12	protein_coding	MMP-14|MMP-X1|MT-MMP|MT-MMP 1|MT1-MMP|MT1MMP|MTMMP1|WNCHRS	14q11.2	matrix metallopeptidase 14	Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMPs are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [provided by RefSeq, Jul 2008]
MMP16	chr8	88032009	88328025	-	ENSG00000156103.15	protein_coding	C8orf57|MMP-X2|MT-MMP2|MT-MMP3|MT3-MMP	8q21.3	matrix metallopeptidase 16	Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMPs are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The encoded protein activates MMP2 by cleavage. This gene was once referred to as MT-MMP2, but was renamed as MT-MMP3 or MMP16. [provided by RefSeq, Oct 2010]
MMP19	chr12	55835433	55842966	-	ENSG00000123342.15	protein_coding	CODA|MMP18|RASI-1	12q13.2	matrix metallopeptidase 19	This gene encodes a member of a family of proteins that are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded protein is secreted as an inactive proprotein, which is activated upon cleavage by extracellular proteases. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]
MMP21	chr10	125766453	125775821	-	ENSG00000154485.4	protein_coding	HTX7|MMP-21	10q26.2	matrix metallopeptidase 21	This gene encodes a member of the matrix metalloproteinase family. Proteins in this family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, and disease processes, such as asthma and tumor metastasis. The encoded protein may play an important role in embryogenesis, particularly in neuronal cells, as well as in lymphocyte development and survival. [provided by RefSeq, May 2013]
MMP23A	chr1	1699942	1701782	+	ENSG00000215914.4	unprocessed_pseudogene	MIFR|MIFR-1|MMP21	1p36.33	matrix metallopeptidase 23A (pseudogene)	This locus represents the partially duplicated copy of the MMP23B gene, and therefore considered a pseudogene. This pseudogene is part of a duplicated region of chromosome 1p36.3. It belongs to the more centromeric copy of the duplicated region. [provided by RefSeq, Jul 2008]
MMP23B	chr1	1632095	1635263	+	ENSG00000189409.13	protein_coding	MIFR|MIFR-1|MMP22|MMP23A	1p36.33	matrix metallopeptidase 23B	This gene (MMP23B) encodes a member of the matrix metalloproteinase (MMP) family, and it is part of a duplicated region of chromosome 1p36.3. Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. This gene belongs to the more telomeric copy of the duplicated region. [provided by RefSeq, Jul 2008]
MMP24	chr20	35226654	35277000	+	ENSG00000125966.9	protein_coding	MMP-24|MMP25|MT-MMP 5|MT-MMP5|MT5-MMP|MT5MMP|MTMMP5	20q11.22	matrix metallopeptidase 24	This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. Unlike most MMPs, which are secreted, this protease is a member of the membrane-type MMP (MT-MMP) subfamily, contains a transmembrane domain and is expressed at the cell surface. Substrates of this protease include the proteins cadherin 2 and matrix metallopeptidase 2 (also known as 72 kDa type IV collagenase). The gene has previously been referred to as MMP25 but has been renamed matrix metallopeptidase 24 (MMP24). [provided by RefSeq, Oct 2019]
MMP24OS	chr20	 35276352	35278122	-	ENSG00000126005	protein-coding	MMP24-AS1	20q11.22	MMP24 opposite strand	Ubiquitous expression in kidney (RPKM 32.2), fat (RPKM 32.1) and 25 other tissues
MMP25	chr16	3046681	3060726	+	ENSG00000008516.16	protein_coding	MMP-25|MMP20|MMP20A|MMPL1|MT-MMP 6|MT-MMP6|MT6-MMP|MT6MMP|MTMMP6	16p13.3	matrix metallopeptidase 25	Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMPs are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily, attached to the plasma membrane via a glycosylphosphatidyl inositol anchor. In response to bacterial infection or inflammation, the encoded protein is thought to inactivate alpha-1 proteinase inhibitor, a major tissue protectant against proteolytic enzymes released by activated neutrophils, facilitating the transendothelial migration of neutrophils to inflammatory sites. The encoded protein may also play a role in tumor invasion and metastasis through activation of MMP2. The gene has previously been referred to as MMP20 but has been renamed MMP25. [provided by RefSeq, Jul 2008]
MMP28	chr17	35756249	35795707	-	ENSG00000271447.5	protein_coding	EPILYSIN|MM28|MMP-25|MMP-28|MMP25	17q12	matrix metallopeptidase 28	Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix for both normal physiological processes, such as embryonic development, reproduction and tissue remodeling, and disease processes, such as asthma and metastasis. This gene encodes a secreted enzyme that degrades casein. Its expression pattern suggests that it plays a role in tissue homeostasis and in wound repair. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]
MMP3	chr11	102835801	102843803	-	ENSG00000149968.11	protein_coding	CHDS6|MMP-3|SL-1|STMY|STMY1|STR1	11q22.2	matrix metallopeptidase 3	Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMPs are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. This gene encodes an enzyme which degrades fibronectin, laminin, collagens III, IV, IX, and X, and cartilage proteoglycans. The enzyme is thought to be involved in wound repair, progression of atherosclerosis, and tumor initiation. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008]
MMP7	chr11	102520508	102530753	-	ENSG00000137673.8	protein_coding	MMP-7|MPSL1|PUMP-1	11q22.2	matrix metallopeptidase 7	This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down proteoglycans, fibronectin, elastin and casein and differs from most MMP family members in that it lacks a conserved C-terminal hemopexin domain. The enzyme is involved in wound healing, and studies in mice suggest that it regulates the activity of defensins in intestinal mucosa. The gene is part of a cluster of MMP genes on chromosome 11. This gene exhibits elevated expression levels in multiple human cancers. [provided by RefSeq, Jan 2016]
MMP8	chr11	102711795	102727050	-	ENSG00000118113.11	protein_coding	CLG1|HNC|MMP-8|PMNL-CL	11q22.2	matrix metallopeptidase 8	This gene encodes a member of the matrix metalloproteinase (MMP) family of proteins. These proteins are involved in the breakdown of extracellular matrix in embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Proteolysis at different sites on this protein results in multiple active forms of the enzyme with distinct N-termini. This protein functions in the degradation of type I, II and III collagens. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
MMP9	chr20	46008908	46016561	+	ENSG00000100985.7	protein_coding	CLG4B|GELB|MANDP2|MMP-9	20q13.12	matrix metallopeptidase 9	Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMPs are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The enzyme encoded by this gene degrades type IV and V collagens. Studies in rhesus monkeys suggest that the enzyme is involved in IL-8-induced mobilization of hematopoietic progenitor cells from bone marrow, and murine studies suggest a role in tumor-associated tissue remodeling. [provided by RefSeq, Jul 2008]
MMRN1	chr4	89879532	89954629	+	ENSG00000138722.9	protein_coding	ECM|EMILIN4|GPIa*|MMRN	4q22.1	multimerin 1	 Multimerin is a massive, soluble protein found in platelets and in the endothelium of blood vessels.  It is comprised of subunits linked by interchain disulfide bonds to form large, variably sized homomultimers.  Multimerin is a factor V/Va-binding protein and may function as a carrier protein for platelet factor V.  It may also have functions as an extracellular matrix or adhesive protein.  Recently, patients with an unusual autosomal-dominant bleeding disorder (factor V Quebec) were found to have a deficiency of platelet multimerin. [provided by RefSeq, Jul 2008]
MMRN2	chr10	86935540	86969481	-	ENSG00000173269.13	protein_coding	EMILIN-3|EMILIN3|ENDOGLYX-1	10q23.2	multimerin 2	This gene encodes a protein belonging to the member of elastin microfibril interface-located (EMILIN) protein family. This family member is an extracellular matrix glycoprotein that can interfere with tumor angiogenesis and growth. It serves as a transforming growth factor beta antagonist and can interfere with the VEGF-A/VEGFR2 pathway. A related pseudogene has been identified on chromosome 6. [provided by RefSeq, Aug 2012]
MMS19	chr10	97458324	97498794	-	ENSG00000155229.20	protein_coding	CIAO4|MET18|MMS19L|hMMS19	10q24.1	MMS19 homolog, cytosolic iron-sulfur assembly component	Ubiquitous expression in testis (RPKM 18.2), skin (RPKM 14.7) and 25 other tissues
MMS22L	chr6	97142161	97283217	-	ENSG00000146263.11	protein_coding	C6orf167|dJ39B17.2	6q16.1	MMS22 like, DNA repair protein	The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the histone-associated protein NFKBIL2 to help regulate the chromatin state at stalled replication forks. Finally, this gene appears to be overexpressed in most lung and esophageal cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]
MMUT	chr6	 49430360	49463253	-	ENSG00000146085	protein-coding	MCM|MUT	6p12.3	methylmalonyl-CoA mutase	This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
MN1	chr22	27748277	27801498	-	ENSG00000169184.5	protein_coding	CEBALID|MGCR|MGCR1|MGCR1-PEN|dJ353E16.2	22q12.1	MN1 proto-oncogene, transcriptional regulator	Meningioma 1 (MN1) contains two sets of CAG repeats. It is disrupted by a balanced translocation (4;22) in a meningioma, and its inactivation may contribute to meningioma 32 pathogenesis. [provided by RefSeq, Jul 2008]
MNAT1	chr14	60734742	60969953	+	ENSG00000020426.10	protein_coding	CAP35|MAT1|RNF66|TFB3	14q23.1	MNAT1 component of CDK activating kinase	The protein encoded by this gene, along with cyclin H and CDK7, forms the CDK-activating kinase (CAK) enzymatic complex. This complex activates several cyclin-associated kinases and can also associate with TFIIH to activate transcription by RNA polymerase II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
MNDA	chr1	158831317	158849506	+	ENSG00000163563.7	protein_coding	PYHIN3	1q23.1	myeloid cell nuclear differentiation antigen	The myeloid cell nuclear differentiation antigen (MNDA) is detected only in nuclei of cells of the granulocyte-monocyte lineage. A 200-amino acid region of human MNDA is strikingly similar to a region in the proteins encoded by a family of interferon-inducible mouse genes, designated Ifi-201, Ifi-202, and Ifi-203, that are not regulated in a cell- or tissue-specific fashion. The 1.8-kb MNDA mRNA, which contains an interferon-stimulated response element in the 5-prime untranslated region, was significantly upregulated in human monocytes exposed to interferon alpha. MNDA is located within 2,200 kb of FCER1A, APCS, CRP, and SPTA1. In its pattern of expression and/or regulation, MNDA resembles IFI16, suggesting that these genes participate in blood cell-specific responses to interferons. [provided by RefSeq, Jul 2008]
MNS1	chr15	56421544	56465137	-	ENSG00000138587.5	protein_coding	HTX9|SPATA40	15q21.3	meiosis specific nuclear structural 1	This gene encodes a protein highly similar to the mouse meiosis-specific nuclear structural 1 protein. The mouse protein was shown to be expressed at the pachytene stage during spermatogenesis and may function as a nuclear skeletal protein to regulate nuclear morphology during meiosis. [provided by RefSeq, Oct 2008]
MNT	chr17	2384060	2401118	-	ENSG00000070444.14	protein_coding	MAD6|MXD6|ROX|bHLHd3|lncRNA-HAL	17p13.3	MAX network transcriptional repressor	The Myc/Max/Mad network comprises a group of transcription factors that co-interact to regulate gene-specific transcriptional activation or repression. This gene encodes a protein member of the Myc/Max/Mad network. This protein has a basic-Helix-Loop-Helix-zipper domain (bHLHzip) with which it binds the canonical DNA sequence CANNTG, known as the E box, following heterodimerization with Max proteins. This protein is likely a transcriptional repressor and an antagonist of Myc-dependent transcriptional activation and cell growth. This protein represses transcription by binding to DNA binding proteins at its N-terminal Sin3-interaction domain. [provided by RefSeq, Jul 2008]
MOAP1	chr14	93182196	93184928	-	ENSG00000165943.4	protein_coding	MAP-1|PNMA4	14q32.12	modulator of apoptosis 1	The protein encoded by this gene was identified by its interaction with apoptosis regulator BAX protein. This protein contains a Bcl-2 homology 3 (BH3)-like motif, which is required for the association with BAX. When overexpressed, this gene has been shown to mediate caspase-dependent apoptosis. [provided by RefSeq, Jul 2008]
MOB1A	chr2	74152528	74178898	-	ENSG00000114978.17	protein_coding	C2orf6|MABKL1B|MATS1|MOB1|MOBK1B|MOBKL1B|Mob4B	2p13.1	MOB kinase activator 1A	The protein encoded by this gene is a component of the Hippo signaling pathway, which controls organ size and tumor growth by enhancing apoptosis. Loss of the encoded protein results in cell proliferation and cancer formation. The encoded protein is also involved in the control of microtubule stability during cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
MOB2	chr11	1469457	1501247	-	ENSG00000182208.13	protein_coding	HCCA2	11p15.5	MOB kinase activator 2	Annotation category: partial on reference assembly
MOB3A	chr19	2071038	2096673	-	ENSG00000172081.13	protein_coding	MOB-LAK|MOB1C|MOBKL2A|moblak	19p13.3	MOB kinase activator 3A	Predicted to enable metal ion binding activity. [provided by Alliance of Genome Resources, Apr 2022]
MOB3C	chr1	46607715	46616891	-	ENSG00000142961.14	protein_coding	MOB1E|MOBKL2C	1p33	MOB kinase activator 3C	The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
MOB4	chr2	197515571	197553699	+	ENSG00000115540.14	protein_coding	2C4D|CGI-95|MOB1|MOB3|MOBKL3|PHOCN|PREI3	2q33.1	MOB family member 4, phocein	This gene was identified based on its similarity with the mouse counterpart. Studies of the mouse counterpart suggest that the expression of this gene may be regulated during oocyte maturation and preimplantation following zygotic gene activation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HSPE1.[provided by RefSeq, Feb 2011]
MOBP	chr3	39467198	39529479	+	ENSG00000168314.17	protein_coding	-	3p22.1	myelin associated oligodendrocyte basic protein	-
MOCOS	chr18	36187519	36272157	+	ENSG00000075643.5	protein_coding	HMCS|MCS|MOS	18q12.2	molybdenum cofactor sulfurase	This gene encodes an enzyme that sulfurates the molybdenum cofactor which is required for activation of the xanthine dehydrogenase (XDH) and aldehyde oxidase (AO) enzymes. XDH catalyzes the conversion of hypoxanthine to uric acid via xanthine, as well as the conversion of allopurinol to oxypurinol, and pyrazinamide to 5-hydroxy pyrazinamide. Mutations in this gene cause the metabolic disorder classical xanthinuria type II which is characterized by the loss of XDH/XO and AO enzyme activity, decreased levels of uric acid in the urine, increased levels of xanthine and hypoxanthine in the serum and urine, formation of xanthine stones in the urinary tract, and myositis due to tissue deposition of xanthine. [provided by RefSeq, Apr 2017]
MOCS2	chr5	53095679	53110063	-	ENSG00000164172.18	protein_coding	MCBPE|MOCO1|MOCODB|MPTS	5q11.2	molybdenum cofactor synthesis 2	Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. [provided by RefSeq, Jul 2008]
MOCS3	chr20	50958826	50963931	+	ENSG00000124217.4	protein_coding	UBA4	20q13.13	molybdenum cofactor synthesis 3	Molybdenum cofactor (MoCo) is necessary for the function of all molybdoenzymes. The protein encoded by this gene adenylates and activates molybdopterin synthase, an enzyme required for biosynthesis of MoCo. This gene contains no introns. A pseudogene of this gene is present on chromosome 14. [provided by RefSeq, Nov 2012]
MOG	chr6	29656981	29672372	+	ENSG00000204655.11	protein_coding	BTN6|BTNL11|MOGIG2|NRCLP7	6p22.1	myelin oligodendrocyte glycoprotein	The product of this gene is a membrane protein expressed on the oligodendrocyte cell surface and the outermost surface of myelin sheaths. Due to this localization, it is a primary target antigen involved in immune-mediated demyelination. This protein may be involved in completion and maintenance of the myelin sheath and in cell-cell communication. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
MOGAT3	chr7	101195007	101201021	-	ENSG00000106384.10	protein_coding	DC7|DGAT2L2|MGAT3	7q22.1	monoacylglycerol O-acyltransferase 3	Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA (Cheng et al., 2003 [PubMed 12618427]).[supplied by OMIM, Mar 2008]
MOGS	chr2	74461057	74465410	-	ENSG00000115275.11	protein_coding	CDG2B|CWH41|DER7|GCS1	2p13.1	mannosyl-oligosaccharide glucosidase	This gene encodes the first enzyme in the N-linked oligosaccharide processing pathway. The enzyme cleaves the distal alpha-1,2-linked glucose residue from the Glc(3)-Man(9)-GlcNAc(2) oligosaccharide precursor. This protein is located in the lumen of the endoplasmic reticulum. Defects in this gene are a cause of type IIb congenital disorder of glycosylation (CDGIIb). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
MOK	chr14	102224500	102305200	-	ENSG00000080823.22	protein_coding	RAGE|RAGE-1|RAGE1|STK30	14q32.31	MOK protein kinase	This gene belongs to the MAP kinase superfamily. The gene was found to be regulated by caudal type transcription factor 2 (Cdx2) protein. The encoded protein, which is localized to epithelial cells in the intestinal crypt, may play a role in growth arrest and differentiation of cells of upper crypt and lower villus regions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]
MON1A	chr3	49908862	49930173	-	ENSG00000164077.13	protein_coding	SAND1	3p21.31	MON1 homolog A, secretory trafficking associated	Ubiquitous expression in duodenum (RPKM 6.4), testis (RPKM 5.1) and 25 other tissues
MON1B	chr16	77190835	77202405	+	ENSG00000103111.14	protein_coding	HSRG1|SAND2|SRG1	16q23.1	MON1 homolog B, secretory trafficking associated	Ubiquitous expression in prostate (RPKM 20.4), thyroid (RPKM 15.6) and 25 other tissues
MON2	chr12	62466817	62600479	+	ENSG00000061987.14	protein_coding	-	12q14.1	MON2 homolog, regulator of endosome-to-Golgi trafficking	-
MORC2	chr22	30925130	30968298	-	ENSG00000133422.12	protein_coding	CMT2Z|DIGFAN|ZCW3|ZCWCC1	22q12.2	MORC family CW-type zinc finger 2	This gene encodes a member of the Microrchidia (MORC) protein superfamily. The encoded protein is known to regulate the condensation of heterochromatin in response to DNA damage and play a role in repressing transcription. The protein has been found to regulate the activity of ATP citrate lyase via specific interaction with this enzyme in the cytosol of lipogenic breast cancer cells. The protein also plays a role in lipogenesis and adipocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]
MORC2-AS1	chr22	30922308	30932449	+	ENSG00000235989.3	antisense	C22orf27|NCRNA00325	22q12.2	MORC2 antisense RNA 1	Biased expression in testis (RPKM 34.3) and lymph node (RPKM 1.7)
MORC3	chr21	36320189	36386148	+	ENSG00000159256.12	protein_coding	NXP2|ZCW5|ZCWCC3	21q22.12	MORC family CW-type zinc finger 3	This gene encodes a protein that localizes to the nuclear matrix and forms nuclear bodies via an ATP-dependent mechanism. The protein is predicted to have coiled-coil and zinc finger domains and has RNA binding activity. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2016]
MORF4	chr4	173615936	173616906	-	ENSG00000234801.3	processed_pseudogene	CSR|CSRB|SEN|SEN1	4q34.1	mortality factor 4 (pseudogene)	Cellular senescence, the terminal nondividing state that normal cells enter following completion of their proliferative potential, is the dominant phenotype in hybrids of normal and immortal cells. Fusions of immortal human cell lines with each other have led to their assignment to 1 of several complementation groups. MORF4 is a gene on chromosome 4 that induces a senescent-like phenotype in cell lines assigned to complementation group B.[supplied by OMIM, Apr 2004]
MORF4L1	chr15	78810487	78898133	+	ENSG00000185787.14	protein_coding	Eaf3|FWP006|HsT17725|MEAF3|MORFRG15|MRG15|S863-6	15q25.1	mortality factor 4 like 1	Ubiquitous expression in testis (RPKM 192.5), brain (RPKM 119.7) and 25 other tissues
MORN1	chr1	2321253	2391707	-	ENSG00000116151.13	protein_coding	-	1p36.32	MORN repeat containing 1	-
MORN3	chr12	121648742	121672631	-	ENSG00000139714.12	protein_coding	-	12q24.31	MORN repeat containing 3	-
MOS	chr8	56112942	56113982	-	ENSG00000172680.1	protein_coding	MSV	8q12.1	MOS proto-oncogene, serine/threonine kinase	MOS is a serine/threonine kinase that activates the MAP kinase cascade through direct phosphorylation of the MAP kinase activator MEK (MAP2K1; MIM 176872) (Prasad et al., 2008 [PubMed 18246541]).[supplied by OMIM, Jul 2009]
MOSMO	chr16	 22008111	22092652	+	ENSG00000185716	protein-coding	ATTHOG|BC030336|C16orf52	16p12.2	modulator of smoothened	Ubiquitous expression in adrenal (RPKM 11.6), brain (RPKM 8.9) and 24 other tissues
MOSPD2	chrX	14873441	14922327	+	ENSG00000130150.11	protein_coding	-	Xp22.2	motile sperm domain containing 2	-
MOSPD3	chr7	100612102	100615384	+	ENSG00000106330.11	protein_coding	CDS3|NET30	7q22.1	motile sperm domain containing 3	This gene encodes a multi-pass membrane protein with a major sperm protein (MSP) domain. The deletion of a similar mouse gene is associated with defective cardiac development and neonatal lethality. Alternate transcriptional splice variants, encoding different isoforms, have been described. [provided by RefSeq, Jul 2008]
MOV10	chr1	112673141	112700746	+	ENSG00000155363.18	protein_coding	fSAP113|gb110	1p13.2	Mov10 RISC complex RNA helicase	Ubiquitous expression in placenta (RPKM 19.5), small intestine (RPKM 18.6) and 25 other tissues
MOXD1	chr6	132296055	132401545	-	ENSG00000079931.14	protein_coding	MOX|PRO5780|dJ248E1.1	6q23.2	monooxygenase DBH like 1	Broad expression in endometrium (RPKM 34.3), adrenal (RPKM 21.6) and 17 other tissues
MPC1	chr6	166364919	166383013	-	ENSG00000060762.18	protein_coding	BRP44L|CGI-129|MPYCD|SLC54A1	6q27	mitochondrial pyruvate carrier 1	The protein encoded by this gene is part of an MPC1/MPC2 heterodimer that is responsible for transporting pyruvate into mitochondria. The encoded protein is found in the inner mitochondrial membrane. Defects in this gene are a cause of mitochondrial pyruvate carrier deficiency. Several transcript variants, some protein coding and one non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]
MPC2	chr1	167916729	167937040	-	ENSG00000143158.10	protein_coding	BRP44|SLC54A2	1q24.2	mitochondrial pyruvate carrier 2	Broad expression in kidney (RPKM 34.8), liver (RPKM 32.8) and 25 other tissues
MPDU1	chr17	7583529	7592789	+	ENSG00000129255.15	protein_coding	CDGIF|HBEBP2BPA|Lec35|My008|PP3958|PQLC5|SL15|SLC66A5	17p13.1	mannose-P-dolichol utilization defect 1	This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
MPDZ	chr9	13105704	13279590	-	ENSG00000107186.16	protein_coding	HYC2|MUPP1	9p23	multiple PDZ domain crumbs cell polarity complex component	The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clump at the cell surface. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
MPEG1	chr11	59208510	59212951	-	ENSG00000197629.5	protein_coding	IMD77|MPG1|MPS1|Mpg-1|P-2	11q12.1	macrophage expressed 1	-
MPG	chr16	77007	85853	+	ENSG00000103152.11	protein_coding	AAG|ADPG|APNG|CRA36.1|MDG|Mid1|PIG11|PIG16|anpg	16p13.3	N-methylpurine DNA glycosylase	Ubiquitous expression in prostate (RPKM 19.8), spleen (RPKM 17.9) and 25 other tissues
MPHOSPH10	chr2	71130314	71150101	+	ENSG00000124383.8	protein_coding	CT90|MPP10|MPP10P|PPP1R106	2p13.3	M-phase phosphoprotein 10	This gene encodes a protein that is phosphorylated during mitosis. The protein localizes to the nucleolus during interphase and to the chromosomes during M phase. The protein associates with the U3 small nucleolar ribonucleoprotein 60-80S complexes and may be involved in pre-rRNA processing. [provided by RefSeq, Dec 2010]
MPHOSPH6	chr16	82147798	82170226	-	ENSG00000135698.9	protein_coding	MPP|MPP-6|MPP6	16q23.3	M-phase phosphoprotein 6	Ubiquitous expression in appendix (RPKM 8.9), urinary bladder (RPKM 8.6) and 24 other tissues
MPHOSPH9	chr12	123152320	123244014	-	ENSG00000051825.14	protein_coding	MPP-9|MPP9	12q24.31	M-phase phosphoprotein 9	Broad expression in bone marrow (RPKM 6.2), testis (RPKM 5.8) and 24 other tissues
MPI	chr15	74890005	74902219	+	ENSG00000178802.17	protein_coding	CDG1B|PMI|PMI1	15q24.1-q24.2	mannose phosphate isomerase	Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
MPIG6B	chr6	31718594	31726714	+	ENSG00000204420.8	protein_coding	C6orf25|G6b|G6b-B|NG31|THAMY	6p21.33	megakaryocyte and platelet inhibitory receptor G6b	This gene is a member of the immunoglobulin (Ig) superfamily and is located in the major histocompatibility complex (MHC) class III region. The protein encoded by this gene is a glycosylated, plasma membrane-bound cell surface receptor, but soluble isoforms encoded by some transcript variants have been found in the endoplasmic reticulum and Golgi before being secreted. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
MPL	chr1	43337849	43352772	+	ENSG00000117400.16	protein_coding	C-MPL|CD110|MPLV|THCYT2|THPOR|TPOR	1p34.2	MPL proto-oncogene, thrombopoietin receptor	In 1990 an oncogene, v-mpl, was identified from the murine myeloproliferative leukemia virus that was capable of immortalizing bone marrow hematopoietic cells from different lineages. In 1992 the human homologue, named, c-mpl, was cloned. Sequence data revealed that c-mpl encoded a protein that was homologous with members of the hematopoietic receptor superfamily. Presence of anti-sense oligodeoxynucleotides of c-mpl inhibited megakaryocyte colony formation. The ligand for c-mpl, thrombopoietin, was cloned in 1994. Thrombopoietin was shown to be the major regulator of megakaryocytopoiesis and platelet formation. The protein encoded by the c-mpl gene, CD110, is a 635 amino acid transmembrane domain, with two extracellular cytokine receptor domains and two intracellular cytokine receptor box motifs . TPO-R deficient mice were severely thrombocytopenic, emphasizing the important role of CD110 and thrombopoietin in megakaryocyte and platelet formation. Upon binding of thrombopoietin CD110 is dimerized and the JAK family of non-receptor tyrosine kinases, as well as the STAT family, the MAPK family, the adaptor protein Shc and the receptors themselves become tyrosine phosphorylated. [provided by RefSeq, Jul 2008]
MPLKIP	chr7	40126023	40134659	-	ENSG00000168303.6	protein_coding	ABHS|C7orf11|ORF20|TTD4	7p14.1	M-phase specific PLK1 interacting protein	The protein encoded by this gene localizes to the centrosome during mitosis and to the midbody during cytokinesis. The protein is phosphorylated by cyclin-dependent kinase 1 during mitosis and subsequently interacts with polo-like kinase 1. The protein is thought to function in regulating mitosis and cytokinesis. Mutations in this gene result in nonphotosensitive trichothiodystrophy. [provided by RefSeq, Nov 2009]
MPND	chr19	4343527	4360086	+	ENSG00000008382.15	protein_coding	-	19p13.3	MPN domain containing	-
MPO	chr17	58269856	58280935	-	ENSG00000005381.7	protein_coding	-	17q22	myeloperoxidase	Restricted expression toward bone marrow (RPKM 1596.3)
MPP1	chrX	154778684	154821007	-	ENSG00000130830.14	protein_coding	AAG12|DXS552E|EMP55|MRG1|PEMP	Xq28	MAGUK p55 scaffold protein 1	This gene encodes the prototype of the membrane-associated guanylate kinase (MAGUK) family proteins. MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intercellular junctions. The encoded protein is an extensively palmitoylated membrane phosphoprotein containing a PDZ domain, a Src homology 3 (SH3) motif, and a guanylate kinase domain. This gene product interacts with various cytoskeletal proteins and cell junctional proteins in different tissue and cell types, and may be involved in the regulation of cell shape, hair cell development, neural patterning of the retina, and apico-basal polarity and tumor suppression pathways in non-erythroid cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
MPP2	chr17	43875357	43909711	-	ENSG00000108852.14	protein_coding	DLG2	17q21.31	MAGUK p55 scaffold protein 2	 Palmitoylated membrane protein 2 is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs).  MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions.  Palmitoylated membrane protein 2 contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. [provided by RefSeq, Jul 2008]
MPP3	chr17	43800799	43833170	-	ENSG00000161647.18	protein_coding	DLG3	17q21.31	MAGUK p55 scaffold protein 3	This gene product is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. This protein contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesnt encode a protein. [provided by RefSeq, Jul 2008]
MPP4	chr2	201644870	201698694	-	ENSG00000082126.17	protein_coding	ALS2CR5|DLG6	2q33.1	MAGUK p55 scaffold protein 4	This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal PDZ domain, a central src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. The protein is localized to the outer limiting membrane in the retina, and is thought to function in photoreceptor polarity and the organization of specialized intercellular junctions. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
MPP7	chr10	28050993	28334486	-	ENSG00000150054.18	protein_coding	-	10p12.1	MAGUK p55 scaffold protein 7	Ubiquitous expression in esophagus (RPKM 17.1), skin (RPKM 11.1) and 24 other tissues
MPPE1	chr18	11882622	11909223	-	ENSG00000154889.16	protein_coding	Cdc1|PGAP5	18p11.21	metallophosphoesterase 1	Ubiquitous expression in thyroid (RPKM 13.2), prostate (RPKM 8.5) and 25 other tissues
MPPED2	chr11	30384493	30586872	-	ENSG00000066382.16	protein_coding	239FB|C11orf8	11p14.1	metallophosphoesterase domain containing 2	This gene likely encodes a metallophosphoesterase. The encoded protein may play a role a brain development. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
MPRIP	chr17	17042545	17217679	+	ENSG00000133030.20	protein_coding	M-RIP|MRIP|RHOIP3|RIP3|p116Rip	17p11.2	myosin phosphatase Rho interacting protein	Ubiquitous expression in endometrium (RPKM 19.8), brain (RPKM 18.4) and 25 other tissues
MPST	chr22	37019635	37029822	+	ENSG00000128309.16	protein_coding	MST|TST2|TUM1	22q12.3	mercaptopyruvate sulfurtransferase	This protein encoded by this gene catalyzes the transfer of a sulfur ion from 3-mercaptopyruvate to cyanide or other thiol compounds. It may be involved in cysteine degradation and cyanide detoxification. There is confusion in literature between this protein (mercaptopyruvate sulfurtransferase, MPST), which appears to be cytoplasmic, and thiosulfate sulfurtransferase (rhodanese, TST, GeneID:7263), which is a mitochondrial protein. Deficiency in MPST activity has been implicated in a rare inheritable disorder known as mercaptolactate-cysteine disulfiduria (MCDU). Alternatively spliced transcript variants encoding same or different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
MPV17	chr2	27309492	27325680	-	ENSG00000115204.14	protein_coding	CMT2EE|MTDPS6|SYM1	2p23.3	mitochondrial inner membrane protein MPV17	This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by RefSeq, Jul 2008]
MPV17L	chr16	15395754	15413268	+	ENSG00000156968.8	protein_coding	M-LPH|MLPH1|MLPH2|MPV17L1	16p13.11	MPV17 mitochondrial inner membrane protein like	Broad expression in kidney (RPKM 1.8), duodenum (RPKM 1.5) and 20 other tissues
MPV17L2	chr19	18193182	18196948	+	ENSG00000254858.9	protein_coding	FKSG24	19p13.11	MPV17 mitochondrial inner membrane protein like 2	Ubiquitous expression in adrenal (RPKM 6.2), thyroid (RPKM 5.7) and 25 other tissues
MPZ	chr1	161304735	161309972	-	ENSG00000158887.15	protein_coding	CHM|CHN2|CMT1|CMT1B|CMT2I|CMT2J|CMT4E|CMTDI3|CMTDID|DSS|HMSNIB|MPP|P0	1q23.3	myelin protein zero	This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2015]
MPZL1	chr1	167721192	167791919	+	ENSG00000197965.11	protein_coding	MPZL1b|PZR|PZR1b|PZRa|PZRb	1q24.2	myelin protein zero like 1	Ubiquitous expression in gall bladder (RPKM 26.1), placenta (RPKM 23.6) and 25 other tissues
MPZL2	chr11	118253403	118264536	-	ENSG00000149573.8	protein_coding	DFNB111|EVA|EVA1	11q23.3	myelin protein zero like 2	Thymus development depends on a complex series of interactions between thymocytes and the stromal component of the organ. Epithelial V-like antigen (EVA) is expressed in thymus epithelium and strongly downregulated by thymocyte developmental progression. This gene is expressed in the thymus and in several epithelial structures early in embryogenesis. It is highly homologous to the myelin protein zero and, in thymus-derived epithelial cell lines, is poorly soluble in nonionic detergents, strongly suggesting an association to the cytoskeleton. Its capacity to mediate cell adhesion through a homophilic interaction and its selective regulation by T cell maturation might imply the participation of EVA in the earliest phases of thymus organogenesis. The protein bears a characteristic V-type domain and two potential N-glycosylation sites in the extracellular domain; a putative serine phosphorylation site for casein kinase 2 is also present in the cytoplasmic tail. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
MPZL3	chr11	118226690	118252350	-	ENSG00000160588.9	protein_coding	-	11q23.3	myelin protein zero like 3	-
MR1	chr1	181033425	181061938	+	ENSG00000153029.14	protein_coding	HLALS	1q25.3	major histocompatibility complex, class I-related	MAIT (mucosal-associated invariant T-cells) lymphocytes represent a small population of T-cells primarily found in the gut. The protein encoded by this gene is an antigen-presenting molecule that presents metabolites of microbial vitamin B to MAITs. This presentation may activate the MAITs to regulate the amounts of specific types of bacteria in the gut. Several transcript variants encoding different isoforms have been found for this gene, and a pseudogene of it has been detected about 36 kbp upstream on the same chromosome. [provided by RefSeq, Jul 2015]
MRAP	chr21	32291813	32314784	+	ENSG00000170262.12	protein_coding	B27|C21orf61|FALP|FGD2|GCCD2	21q22.11	melanocortin 2 receptor accessory protein	This gene encodes a melanocortin receptor-interacting protein. The encoded protein regulates trafficking and function of the melanocortin 2 receptor in the adrenal gland. The encoded protein can also modulate signaling of other melanocortin receptors. Mutations in this gene have been associated with familial glucocorticoid deficiency type 2. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]
MRAP2	chr6	84033756	84090881	+	ENSG00000135324.5	protein_coding	C6orf117|bA51G5.2	6q14.2	melanocortin 2 receptor accessory protein 2	This gene encodes a protein that modulates melanocortin receptor signaling. The encoded protein has been shown to interact with all known melanocortin receptors and may regulate both receptor trafficking and activation in response to ligands. Mice lacking a functional copy of this gene exhibit severe obesity and a mutation in this gene may be associated with severe obesity in human patients. [provided by RefSeq, Oct 2016]
MRAS	chr3	138347648	138405534	+	ENSG00000158186.12	protein_coding	M-RAs|NS11|R-RAS3|RRAS3	3q22.3	muscle RAS oncogene homolog	This gene encodes a member of the Ras family of small GTPases. These membrane-associated proteins function as signal transducers in multiple processes including cell growth and differentiation, and dysregulation of Ras signaling has been associated with many types of cancer. The encoded protein may play a role in the tumor necrosis factor-alpha and MAP kinase signaling pathways. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
MRC1	chr10	17809344	17911170	+	ENSG00000260314.2	protein_coding	CD206|CLEC13D|CLEC13DL|MMR|MRC1L1|bA541I19.1|hMR	10p12.33	mannose receptor C-type 1	The recognition of complex carbohydrate structures on glycoproteins is an important part of several biological processes, including cell-cell recognition, serum glycoprotein turnover, and neutralization of pathogens. The protein encoded by this gene is a type I membrane receptor that mediates the endocytosis of glycoproteins by macrophages. The protein has been shown to bind high-mannose structures on the surface of potentially pathogenic viruses, bacteria, and fungi so that they can be neutralized by phagocytic engulfment.[provided by RefSeq, Sep 2015]
MRC2	chr17	62627401	62693597	+	ENSG00000011028.13	protein_coding	CD280|CLEC13E|ENDO180|UPARAP	17q23.2	mannose receptor C type 2	This gene encodes a member of the mannose receptor family of proteins that contain a fibronectin type II domain and multiple C-type lectin-like domains. The encoded protein plays a role in extracellular matrix remodeling by mediating the internalization and lysosomal degradation of collagen ligands. Expression of this gene may play a role in the tumorigenesis and metastasis of several malignancies including breast cancer, gliomas and metastatic bone disease. [provided by RefSeq, Feb 2012]
MRE11	chr11	94415578	94493908	-	ENSG00000020922.12	protein_coding	ATLD|HNGS1|MRE11A|MRE11B	11q21	MRE11 homolog, double strand break repair nuclease	This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3 to 5 exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3 to 5 exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
MREG	chr2	215942805	216034096	-	ENSG00000118242.15	protein_coding	DSU|WDT2	2q35	melanoregulin	Broad expression in esophagus (RPKM 7.4), skin (RPKM 5.3) and 22 other tissues
MRFAP1L1	chr4	6707701	6709880	-	ENSG00000178988.10	protein_coding	PP784	4p16.1	Morf4 family associated protein 1 like 1	Ubiquitous expression in brain (RPKM 49.2), endometrium (RPKM 34.4) and 25 other tissues
MRGBP	chr20	62796453	62801738	+	ENSG00000101189.6	protein_coding	C20orf20|Eaf7|MRG15BP|URCC4	20q13.33	MRG domain binding protein	Broad expression in testis (RPKM 23.2), ovary (RPKM 4.6) and 24 other tissues
MRGPRD	chr11	68980021	68980986	-	ENSG00000172938.3	protein_coding	MRGD|TGR7	11q13.3	MAS related GPR family member D	-
MRGPRE	chr11	3227698	3232386	-	ENSG00000184350.9	protein_coding	GPR167|MGRF|MRGE	11p15.4	MAS related GPR family member E	Predicted to enable G protein-coupled receptor activity. Predicted to be involved in G protein-coupled receptor signaling pathway. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
MRGPRF	chr11	69004395	69013409	-	ENSG00000172935.8	protein_coding	GPR140|GPR168|MRGF|RTA	11q13.3	MAS related GPR family member F	Broad expression in endometrium (RPKM 20.4), prostate (RPKM 13.8) and 18 other tissues
MRGPRF-AS1	chr11	69012283	69018447	+	ENSG00000256508.2	antisense	-	11q13.3	MRGPRF antisense RNA 1	-
MRGPRX3	chr11	18120955	18138480	+	ENSG00000179826.6	protein_coding	GPCR|MRGX3|SNSR1|SNSR2	11p15.1	MAS related GPR family member X3	This gene encodes a member of the mas-related/sensory neuron specific subfamily of G protein coupled receptors. The encoded protein may be involved in sensory neuron regulation and in the modulation of pain. [provided by RefSeq, Oct 2009]
MRI1	chr19	13764532	13774282	+	ENSG00000037757.13	protein_coding	M1Pi|MRDI|MTNA|Ypr118w	19p13.13	methylthioribose-1-phosphate isomerase 1	This enzyme functions in the methionine salvage pathway by catalyzing the interconversion of methylthioribose-1-phosphate and methythioribulose-1-phosphate. Elevated expression of the encoded protein is associated with metastatic melanoma and this protein promotes melanoma cell invasion independent of its enzymatic activity. Mutations in this gene may be associated with vanishing white matter disease (VMWD). [provided by RefSeq, Jul 2016]
MRLN	chr10	59736692	59756041	-	ENSG00000227877.6	protein_coding	LINC00948|Linc-RAM|M1|MLN|MUSER1	10q21.2	myoregulin	This gene encodes a small peptide that shares structural similarity to the small peptides sarcolipin and phospholamban, which are key regulators of sarcoplasmic reticulum Ca(2+)-ATPases (SERCAs). This protein is thought to have a similar function to these peptides, regulating Ca(2+) reuptake in the sarcoplasmic reticulum by inhibiting the Ca(2+) pump activity of SERCAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2015]
MRM1	chr17	36601572	36608971	+	ENSG00000278619.4	protein_coding	-	17q12	mitochondrial rRNA methyltransferase 1	-
MRM2	chr7	2234231	2242198	-	ENSG00000122687.17	protein_coding	FJH1|FTSJ2|HEL97|MTDPS17|RRMJ2	7p22.3	mitochondrial rRNA methyltransferase 2	The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and it may be involved in the processing and modification of rRNA. This gene has been suggested to be involved in cell cycle control and DNA repair. [provided by RefSeq, Jul 2008]
MRM3	chr17	782273	792509	+	ENSG00000171861.10	protein_coding	RMTL1|RNMTL1	17p13.3	mitochondrial rRNA methyltransferase 3	Efficient translation of mitochondrial-derived transcripts requires proper assembly of the large subunit of the mitochondrial ribosome. Central to the biogenesis of this large subunit is the A-loop of mitochondrial 16S rRNA, which is modified by three rRNA methyltransferases located near mtDNA nucleoids. The protein encoded by this gene methylates G(1370) of 16S rRNA, and this modification is necessary for proper ribosomal large subnit assembly. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
MRNIP	chr5	179835133	179862173	-	ENSG00000161010.14	protein_coding	C5orf45	5q35.3	MRN complex interacting protein	Ubiquitous expression in endometrium (RPKM 41.9), lung (RPKM 28.1) and 25 other tissues
MRO	chr18	50795120	50825402	-	ENSG00000134042.12	protein_coding	B29|C18orf3	18q21.2	maestro	This gene is specifically transcribed in males before and after differentiation of testis, and the encoded protein may play an important role in a mammalian sex determination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
MROH1	chr8	144148016	144261940	+	ENSG00000179832.17	protein_coding	HEATR7A	8q24.3	maestro heat like repeat family member 1	Ubiquitous expression in thyroid (RPKM 7.3), bone marrow (RPKM 4.8) and 25 other tissues
MROH2A	chr2	233775679	233833423	+	ENSG00000185038.14	protein_coding	HEATR7B1	2q37.1	maestro heat like repeat family member 2A	This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016]
MROH2B	chr5	40998017	41071342	-	ENSG00000171495.16	protein_coding	HEATR7B2|SPIF	5p13.1	maestro heat like repeat family member 2B	Predicted to be involved in protein kinase A signaling. Predicted to be located in acrosomal vesicle and sperm midpiece. [provided by Alliance of Genome Resources, Apr 2022]
MROH3P	chr1	200917460	200966668	+	ENSG00000233217.2	transcribed_unitary_pseudogene	C1orf81	1q32.1	maestro heat like repeat family member 3, pseudogene	Low expression observed in reference dataset
MROH5	chr8	141433829	141507230	-	ENSG00000226807.6	polymorphic_pseudogene	-	8q24.3	maestro heat like repeat family member 5 (gene/pseudogene)	Biased expression in testis (RPKM 3.5) and heart (RPKM 0.2)
MROH6	chr8	143566187	143572971	-	ENSG00000204839.8	protein_coding	C8orf73	8q24.3	maestro heat like repeat family member 6	Broad expression in bone marrow (RPKM 5.5), esophagus (RPKM 4.2) and 21 other tissues
MROH7	chr1	54641754	54710266	+	ENSG00000184313.19	protein_coding	C1orf175|HEATR8	1p32.3	maestro heat like repeat family member 7	Biased expression in testis (RPKM 43.4), thyroid (RPKM 2.8) and 1 other tissue
MROH8	chr20	37101226	37179588	-	ENSG00000101353.14	protein_coding	C20orf131|C20orf132	20q11.23	maestro heat like repeat family member 8	The protein encoded by this gene belongs to the maestro heat-like repeat family. The exact function of this gene is not known, however, in a genome-wide association study using hippocampal atrophy as a quantitative trait, this gene has been associated with Alzheimers disease (PMID:19668339). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
MROH9	chr1	170935471	171064765	+	ENSG00000117501.14	protein_coding	ARMC11|C1orf129	1q24.3	maestro heat like repeat family member 9	Low expression observed in reference dataset
MRPL1	chr4	77862520	77952790	+	ENSG00000169288.17	protein_coding	BM022|L1MT|MRP-L1	4q21.1	mitochondrial ribosomal protein L1	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L1 ribosomal protein family. [provided by RefSeq, Jul 2008]
MRPL10	chr17	47823272	47831534	-	ENSG00000159111.12	protein_coding	L10MT|MRP-L10|MRP-L8|MRPL8|RPML8	17q21.32	mitochondrial ribosomal protein L10	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants that encode two different isoforms. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Nov 2010]
MRPL11	chr11	66435075	66466738	-	ENSG00000174547.13	protein_coding	CGI-113|L11MT|MRP-L11	11q13.2	mitochondrial ribosomal protein L11	This nuclear gene encodes a 39S subunit component of the mitochondial ribosome. Alternative splicing results in multiple transcript variants. Pseudogenes for this gene are found on chromosomes 5 and 12. [provided by RefSeq, May 2014]
MRPL14	chr6	44113454	44127457	-	ENSG00000180992.6	protein_coding	L14mt|L32mt|MRP-L14|MRP-L32|MRPL32|RMPL32|RPML32	6p21.1	mitochondrial ribosomal protein L14	This nuclear gene encodes a protein component of the 39S subunit of the mitochondrial ribosome. A pseudogene of this gene is found on chromosome 17. [provided by RefSeq, Jan 2016]
MRPL15	chr8	54135210	54147901	+	ENSG00000137547.8	protein_coding	HSPC145|L15mt|MRP-L15|MRP-L7|RPML7	8q11.23	mitochondrial ribosomal protein L15	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the EcoL15 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 15q. [provided by RefSeq, Jul 2008]
MRPL15P1	chr15	89752296	89753493	+	ENSG00000259441.2	processed_pseudogene	MRPL15P2	15q26.1	mitochondrial ribosomal protein L15 pseudogene 1	-
MRPL16	chr11	59806135	59810872	-	ENSG00000166902.4	protein_coding	L16mt|MRP-L16|PNAS-111	11q12.1	mitochondrial ribosomal protein L16	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]
MRPL17	chr11	6680782	6683401	-	ENSG00000158042.8	protein_coding	L17mt|LIP2|MRP-L17|MRP-L26|RPL17L|RPML26	11p15.4	mitochondrial ribosomal protein L17	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]
MRPL19	chr2	75646783	75690851	+	ENSG00000115364.13	protein_coding	L19mt|MRP-L15|MRP-L19|MRPL15|RLX1|RPML15	2p12	mitochondrial ribosomal protein L19	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]
MRPL2	chr6	43054029	43059806	-	ENSG00000112651.11	protein_coding	CGI-22|MRP-L14|RPML14	6p21.1	mitochondrial ribosomal protein L2	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the EcoL2 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 12q. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
MRPL20	chr1	1401908	1407313	-	ENSG00000242485.5	protein_coding	L20mt|MRP-L20	1p36.33	mitochondrial ribosomal protein L20	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 21q. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
MRPL21	chr11	68891276	68903835	-	ENSG00000197345.12	protein_coding	L21mt|MRP-L21	11q13.3	mitochondrial ribosomal protein L21	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Multiple transcript variants encoding different isoforms were identified through sequence analysis although some may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]
MRPL22	chr5	154941070	154969411	+	ENSG00000082515.17	protein_coding	HSPC158|L22mt|MRP-L22|MRP-L25|RPML25	5q33.2	mitochondrial ribosomal protein L22	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L22 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 4q. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
MRPL23	chr11	1947278	1984522	+	ENSG00000214026.10	protein_coding	L23MRP|RPL23|RPL23L	11p15.5	mitochondrial ribosomal protein L23	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. The gene is biallelically expressed, despite its location within a region of imprinted genes on chromosome 11. [provided by RefSeq, Jul 2008]
MRPL23-AS1	chr11	1983237	1989920	-	ENSG00000226416.1	antisense	-	11p15.5	MRPL23 antisense RNA 1	-
MRPL24	chr1	156737303	156741590	-	ENSG00000143314.12	protein_coding	L24mt|MRP-L18|MRP-L24	1q23.1	mitochondrial ribosomal protein L24	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which is more than twice the size of its E.coli counterpart (EcoL24). Sequence analysis identified two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
MRPL27	chr17	50367857	50373214	-	ENSG00000108826.15	protein_coding	L27mt	17q21.33	mitochondrial ribosomal protein L27	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]
MRPL28	chr16	367384	370527	-	ENSG00000086504.15	protein_coding	MAAT1|p15	16p13.3	mitochondrial ribosomal protein L28	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein, a part of which was originally isolated by its ability to recognize tyrosinase in an HLA-A24-restricted fashion. [provided by RefSeq, Jul 2008]
MRPL3	chr3	131462212	131502983	-	ENSG00000114686.8	protein_coding	COXPD9|MRL3|RPML3	3q22.1	mitochondrial ribosomal protein L3	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008]
MRPL30	chr2	99181079	99197626	+	ENSG00000185414.19	protein_coding	L28MT|L30MT|MRP-L28|MRP-L30|MRPL28|MRPL28M|RPML28	2q11.2	mitochondrial ribosomal protein L30	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p and 12p. Read-through transcription also exists between this gene and the neighboring upstream lipoyltransferase 1 (LIPT1) gene. [provided by RefSeq, Mar 2011]
MRPL32	chr7	42932200	42948958	+	ENSG00000106591.3	protein_coding	HSPC283|L32mt|MRP-L32|bMRP-59b	7p14.1	mitochondrial ribosomal protein L32	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L32 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome Xp. [provided by RefSeq, Jul 2008]
MRPL33	chr2	27771717	27988087	+	ENSG00000243147.7	protein_coding	C2orf1|L33mt|MRP-L33|RPL33L	2p23.2	mitochondrial ribosomal protein L33	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
MRPL34	chr19	17292609	17306843	+	ENSG00000130312.6	protein_coding	L34mt	19p13.11	mitochondrial ribosomal protein L34	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]
MRPL35	chr2	86199355	86213794	+	ENSG00000132313.14	protein_coding	L35mt|MRP-L35	2p11.2	mitochondrial ribosomal protein L35	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p, 10q, and Xp. [provided by RefSeq, Jul 2008]
MRPL35P2	chr10	63634317	63634827	-	ENSG00000232075.1	processed_pseudogene	-	10q21.3	mitochondrial ribosomal protein L35 pseudogene 2	-
MRPL35P3	chr10	74527584	74527947	+	ENSG00000226253.1	processed_pseudogene	-	10q22.2	mitochondrial ribosomal protein L35 pseudogene 3	-
MRPL36	chr5	1798386	1801366	-	ENSG00000171421.12	protein_coding	BRIP1|L36mt|MRP-L36|PRPL36|RPMJ	5p15.33	mitochondrial ribosomal protein L36	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 2p. [provided by RefSeq, Jul 2008]
MRPL37	chr1	54184041	54225464	+	ENSG00000116221.15	protein_coding	L2mt|L37mt|MRP-L2|MRP-L37|MRPL2|RPML2	1p32.3	mitochondrial ribosomal protein L37	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]
MRPL38	chr17	75898643	75905413	-	ENSG00000204316.12	protein_coding	HSPC262|L38MT|MRP-L3|MRP-L38|RPML3	17q25.1	mitochondrial ribosomal protein L38	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]
MRPL39	chr21	25585656	25607517	-	ENSG00000154719.13	protein_coding	C21orf92|L39mt|L5mt|MRP-L5|MRPL5|MSTP003|PRED22|PRED66|RPML5	21q21.3	mitochondrial ribosomal protein L39	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]
MRPL4	chr19	10251901	10260045	+	ENSG00000105364.13	protein_coding	CGI-28|L4mt	19p13.2	mitochondrial ribosomal protein L4	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified alternatively spliced variants that encode different protein isoforms. [provided by RefSeq, Jul 2008]
MRPL40	chr22	19431902	19436075	+	ENSG00000185608.8	protein_coding	L40mt|MRP-L22|MRP-L40|MRPL22|NLVCF|URIM	22q11.21	mitochondrial ribosomal protein L40	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008]
MRPL41	chr9	137551199	137552555	+	ENSG00000182154.7	protein_coding	BMRP|MRP-L27|MRPL27|PIG3|RPML27	9q34.3	mitochondrial ribosomal protein L41	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the YmL27 ribosomal protein family. [provided by RefSeq, Jul 2008]
MRPL42	chr12	93467488	93516213	+	ENSG00000198015.12	protein_coding	HSPC204|L31MT|L42MT|MRP-L31|MRP-L42|MRP-S32|MRPL31|MRPS32|PTD007|RPML31|S32MT	12q22	mitochondrial ribosomal protein L42	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a protein identified as belonging to both the 28S and the 39S subunits. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 4q, 6p, 6q, 7p, and 15q. [provided by RefSeq, May 2011]
MRPL43	chr10	100969458	100987515	-	ENSG00000055950.16	protein_coding	L43mt|MRP-L43|bMRP36a	10q24.31	mitochondrial ribosomal protein L43	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene and the gene for a semaphorin class 4 protein (SEMA4G) overlap at map location 10q24.31 and are transcribed in opposite directions. Sequence analysis identified multiple transcript variants encoding at least four different protein isoforms. [provided by RefSeq, Jul 2008]
MRPL44	chr2	223957404	223967714	+	ENSG00000135900.3	protein_coding	COXPD16|L44MT|MRP-L44	2q36.1	mitochondrial ribosomal protein L44	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]
MRPL45	chr17	38297023	38323218	+	ENSG00000278845.4	protein_coding	L45mt|MRP-L45	17q12	mitochondrial ribosomal protein L45	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 2p and 17q. [provided by RefSeq, May 2013]
MRPL45P2	chr17	47450568	47492492	-	ENSG00000228782.7	transcribed_unprocessed_pseudogene	-	17q21.32	mitochondrial ribosomal protein L45 pseudogene 2	-
MRPL46	chr15	88459476	88467419	-	ENSG00000259494.1	protein_coding	C15orf4|LIECG2|P2ECSL	15q25.3	mitochondrial ribosomal protein L46	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]
MRPL48	chr11	73787316	73865133	+	ENSG00000175581.13	protein_coding	CGI-118|HSPC290|L48MT|MRP-L48	11q13.4	mitochondrial ribosomal protein L48	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 6p. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]
MRPL49	chr11	65122183	65127371	+	ENSG00000149792.8	protein_coding	C11orf4|L49mt|MRP-L49|NOF|NOF1	11q13.1	mitochondrial ribosomal protein L49	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. Pseudogenes corresponding to this gene are found on chromosomes 5q and 8p. [provided by RefSeq, May 2011]
MRPL50	chr9	101387633	101398614	-	ENSG00000136897.7	protein_coding	MRP-L50	9q31.1	mitochondrial ribosomal protein L50	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a putative 39S subunit protein and belongs to the L47P ribosomal protein family. Pseudogenes corresponding to this gene are found on chromosomes 2p, 2q, 5p, and 10q. [provided by RefSeq, Jul 2008]
MRPL51	chr12	6491886	6493841	-	ENSG00000111639.7	protein_coding	CDA09|HSPC241|MRP64|bMRP64	12p13.31	mitochondrial ribosomal protein L51	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 4p and 21q. [provided by RefSeq, Jul 2008]
MRPL52	chr14	22829879	22835037	+	ENSG00000172590.18	protein_coding	-	14q11.2	mitochondrial ribosomal protein L52	Ubiquitous expression in kidney (RPKM 8.1), colon (RPKM 7.9) and 25 other tissues
MRPL53	chr2	74471958	74473322	-	ENSG00000204822.6	protein_coding	L53MT	2p13.1	mitochondrial ribosomal protein L53	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 1p. [provided by RefSeq, Jul 2008]
MRPL55	chr1	228106679	228109312	-	ENSG00000162910.18	protein_coding	AAVG5835|L55nt|MRP-L55|PRO19675	1q42.13	mitochondrial ribosomal protein L55	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Multiple transcript variants encoding two different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]
MRPL57	chr13	21176645	21179084	+	ENSG00000173141.4	protein_coding	MRP63|bMRP63	13q12.11	mitochondrial ribosomal protein L57	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a protein which belongs to an undetermined ribosomal subunit and which seems to be specific to animal mitoribosomes. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 3p, 5q, 8q, 14q, and Y. [provided by RefSeq, Jul 2008]
MRPL9	chr1	151759643	151763564	-	ENSG00000143436.10	protein_coding	L9mt	1q21.3	mitochondrial ribosomal protein L9	This is a nuclear gene encoding a protein component of the 39S subunit of the mitochondrial ribosome. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Jul 2014]
MRPS10	chr6	42206801	42217865	-	ENSG00000048544.5	protein_coding	MRP-S10|PNAS-122	6p21.1	mitochondrial ribosomal protein S10	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S10P family. Pseudogenes corresponding to this gene are found on chromosomes 1q, 3p, and 9p. [provided by RefSeq, Jul 2008]
MRPS11	chr15	88467453	88480773	+	ENSG00000181991.15	protein_coding	HCC-2|MRP-S11|S11mt	15q25.3	mitochondrial ribosomal protein S11	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that contains a high level of sequence similarity with ribosomal protein S11P family members. A pseudogene corresponding to this gene is found on chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]
MRPS14	chr1	175010789	175023425	-	ENSG00000120333.4	protein_coding	COXPD38|DJ262D12.2|HSMRPS14|MRP-S14|S14mt	1q25.1	mitochondrial ribosomal protein S14	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S14P family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
MRPS15	chr1	36455718	36464437	-	ENSG00000116898.11	protein_coding	DC37|MPR-S15|RPMS15|S15mt	1p34.3	mitochondrial ribosomal protein S15	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S15P family. The encoded protein is more than two times the size of its E. coli counterpart, with the 12S rRNA binding sites conserved. Between human and mouse, the encoded protein is the least conserved among small subunit ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 15q and 19q. [provided by RefSeq, Jul 2008]
MRPS16	chr10	73248843	73252693	-	ENSG00000182180.13	protein_coding	CGI-132|COXPD2|MRP-S16|RPMS16	10q22.2	mitochondrial ribosomal protein S16	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S16P family. The encoded protein is one of the most highly conserved ribosomal proteins between mammalian and yeast mitochondria. Three pseudogenes (located at 8q21.3, 20q13.32, 22q12-q13.1) for this gene have been described. [provided by RefSeq, Jul 2008]
MRPS17	chr7	55951819	55956501	+	ENSG00000239789.5	protein_coding	HSPC011|MRP-S17|RPMS17|S17mt	7p11.2	mitochondrial ribosomal protein S17	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S17P family. The encoded protein is moderately conserved between human mitochondrial and prokaryotic ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 1p, 3p, 6q, 14p, 18q, and Xq. [provided by RefSeq, Jul 2008]
MRPS17P1	chr1	44988705	44991834	-	ENSG00000268949.1	processed_pseudogene	MRPS17P2	1p34.1	mitochondrial ribosomal protein S17 pseudogene 1	-
MRPS18A	chr6	43671303	43687791	-	ENSG00000096080.11	protein_coding	HumanS18b|MRP-S18-3|MRP-S18-a|MRPS18-3|S18bmt|S18mt-a	6p21.1	mitochondrial ribosomal protein S18A	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. A pseudogene corresponding to this gene is found on chromosome 3p. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
MRPS18AP1	chr3	48256350	48256938	-	ENSG00000229759.1	processed_pseudogene	-	3p21.31	mitochondrial ribosomal protein S18A pseudogene 1	-
MRPS18B	chr6	30617709	30626395	+	ENSG00000204568.11	protein_coding	C6orf14|HSPC183|HumanS18a|MRP-S18-2|MRPS18-2|PTD017|S18amt	6p21.33	mitochondrial ribosomal protein S18B	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Jul 2008]
MRPS18C	chr4	83455932	83469735	+	ENSG00000163319.10	protein_coding	CGI-134|MRP-S18-1|MRP-S18-c|MRPS18-1|S18mt-c|mrps18-c	4q21.23	mitochondrial ribosomal protein S18C	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 8p, 12p, 15q, and 22q. [provided by RefSeq, Jul 2008]
MRPS21	chr1	150293720	150308979	+	ENSG00000266472.5	protein_coding	MDS016|MRP-S21|RPMS21	1q21.2	mitochondrial ribosomal protein S21	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S21P family. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 9p, 10p, 10q, 16q, and 17q. Available sequence data analyses identified splice variants that differ in the 5 UTR; both transcripts encode the same protein. [provided by RefSeq, Jul 2008]
MRPS22	chr3	139005806	139357223	+	ENSG00000175110.11	protein_coding	C3orf5|COXPD5|GIBT|GK002|MRP-S22|ODG7|RPMS22	3q23	mitochondrial ribosomal protein S22	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq. [provided by RefSeq, Jul 2008]
MRPS23	chr17	57834781	57850056	-	ENSG00000181610.12	protein_coding	CGI-138|COXPD46|HSPC329|MRP-S23	17q22	mitochondrial ribosomal protein S23	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 7p. [provided by RefSeq, Jul 2008]
MRPS25	chr3	15042460	15065335	-	ENSG00000131368.7	protein_coding	COXPD50|MRP-S25|RPMS25	3p25.1	mitochondrial ribosomal protein S25	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
MRPS26	chr20	3045945	3048254	+	ENSG00000125901.5	protein_coding	C20orf193|GI008|MRP-S13|MRP-S26|MRPS13|NY-BR-87|RPMS13|dJ534B8.3	20p13	mitochondrial ribosomal protein S26	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. This gene lies adjacent to and downstream of the gonadotropin-releasing hormone precursor gene. [provided by RefSeq, Jul 2008]
MRPS27	chr5	72219409	72320646	-	ENSG00000113048.16	protein_coding	MRP-S27|S27mt	5q13.2	mitochondrial ribosomal protein S27	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that may be a functional partner of the death associated protein 3 (DAP3). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]
MRPS30	chr5	44808925	44820428	+	ENSG00000112996.10	protein_coding	MRP-S30|PAP|PDCD9|S30mt	5p12	mitochondrial ribosomal protein S30	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that is similar to the chicken pro-apoptotic protein p52. Transcript variants using alternative promoters or polyA sites have been mentioned in the literature but the complete description of these sequences is not available. [provided by RefSeq, Jul 2008]
MRPS30-DT	chr5	 44744328	44808793	-	-	ncRNA	BRCAT54	5p12	MRPS30 divergent transcript	-
MRPS31	chr13	40729135	40771173	-	ENSG00000102738.7	protein_coding	IMOGN38|MRP-S31|S31mt	13q14.11	mitochondrial ribosomal protein S31	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that has also been associated with type 1 diabetes; however, its relationship to the etiology of this disease remains to be clarified. Pseudogenes corresponding to this gene have been found on chromosomes 3 and 13. [provided by RefSeq, Jul 2008]
MRPS33	chr7	141002610	141015228	-	ENSG00000090263.15	protein_coding	CGI-139|MRP-S33|PTD003|S33mt	7q34	mitochondrial ribosomal protein S33	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that is one of the more highly conserved mitochondrial ribosomal proteins among mammals, Drosophila and C. elegans. Splice variants that differ in the 5 UTR have been found for this gene; all variants encode the same protein. Pseudogenes corresponding to this gene are found on chromosomes 1q, 4p, 4q, and 20q [provided by RefSeq, Jul 2008]
MRPS34	chr16	1771890	1773155	-	ENSG00000074071.14	protein_coding	COXPD32|MRP-S12|MRP-S34|MRPS12	16p13.3	mitochondrial ribosomal protein S34	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
MRPS35	chr12	27710773	27756295	+	ENSG00000061794.12	protein_coding	HDCMD11P|MDS023|MRP-S28|MRPS28	12p11.22	mitochondrial ribosomal protein S35	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has had confusing nomenclature in the literature. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 3p, 5q, and 10q. [provided by RefSeq, Jul 2010]
MRPS36	chr5	69217760	69230129	+	ENSG00000134056.11	protein_coding	DC47|MRP-S36	5q13.2	mitochondrial ribosomal protein S36	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. The mitochondrial ribosome (mitoribosome) consists of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 3p, 4q, 8p, 11q, 12q, and 20p. [provided by RefSeq, Jul 2008]
MRPS5	chr2	95087207	95149434	-	ENSG00000144029.11	protein_coding	MRP-S5|S5mt	2q11.1	mitochondrial ribosomal protein S5	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S5P family. Pseudogenes corresponding to this gene are found on chromosomes 4q, 5q, and 18q. [provided by RefSeq, Jul 2008]
MRPS6	chr21	34073224	34143034	+	ENSG00000243927.5	protein_coding	C21orf101|MRP-S6|RPMS6|S6mt	21q22.11	mitochondrial ribosomal protein S6	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S6P family. Pseudogenes corresponding to this gene are found on chromosomes 1p and 12q. [provided by RefSeq, Jul 2008]
MRPS6P2	chr1	50846468	50846837	+	ENSG00000237130.1	processed_pseudogene	-	1p32.3	mitochondrial ribosomal protein S6 pseudogene 2	-
MRPS7	chr17	75261674	75266373	+	ENSG00000125445.10	protein_coding	COXPD34|MRP-S|MRP-S7|RP-S7|RPMS7|S7mt|bMRP27a	17q25.1	mitochondrial ribosomal protein S7	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. In the prokaryotic ribosome, the comparable protein is thought to play an essential role in organizing the 3 domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudogenes corresponding to this gene are found on chromosomes 8p and 12p. [provided by RefSeq, Jul 2008]
MRPS9	chr2	105037983	105099960	+	ENSG00000135972.8	protein_coding	MRP-S9|RPMS9|S9mt	2q12.1	mitochondrial ribosomal protein S9	Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. [provided by RefSeq, Jul 2008]
MRRF	chr9	122264603	122331343	+	ENSG00000148187.17	protein_coding	MRFF|MTRRF|RRF	9q33.2	mitochondrial ribosome recycling factor	This gene encodes a ribosome recycling factor, which is a component of the mitochondrial translational machinery. The encoded protein, along with mitochondrial elongation factor 2, functions in ribosomal recycling at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Oct 2016]
MRS2	chr6	24402908	24426194	+	ENSG00000124532.14	protein_coding	HPT|MRS2L	6p22.3	magnesium transporter MRS2	Ubiquitous expression in heart (RPKM 8.7), thyroid (RPKM 7.9) and 25 other tissues
MRS2P2	chr12	 71848292	71850983	-	-	pseudogene	-	12q21.1	MRS2 pseudogene 2	-
MRTFA	chr22	 40410289	40636719	-	ENSG00000196588	protein-coding	BSAC|MAL|MKL|MKL1|MRTF-A	22q13.1-q13.2	myocardin related transcription factor A	The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
MRTFB	chr16	 13994774	14266779	+	ENSG00000186260	protein-coding	MKL2|MRTF-B|NPD001	16p13.12	myocardin related transcription factor B	Ubiquitous expression in brain (RPKM 11.0), testis (RPKM 5.1) and 24 other tissues
MRTO4	chr1	19251539	19260128	+	ENSG00000053372.4	protein_coding	C1orf33|MRT4|dJ657E11.4	1p36.13	MRT4 homolog, ribosome maturation factor	This gene encodes a protein sharing a low level of sequence similarity with ribosomal protein P0. While the precise function of the encoded protein is currently unknown, it appears to be involved in mRNA turnover and ribosome assembly. [provided by RefSeq, Jul 2008]
MS4A1	chr11	60455752	60470760	+	ENSG00000156738.17	protein_coding	B1|Bp35|CD20|CVID5|FMC7|LEU-16|S7	11q12.2	membrane spanning 4-domains A1	This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. [provided by RefSeq, Jul 2008]
MS4A12	chr11	60492778	60507430	+	ENSG00000071203.9	protein_coding	Ms4a10	11q12.2	membrane spanning 4-domains A12	The protein encoded by this gene is a cell surface protein found primarily in the apical membrane of colonocytes. Silencing of this gene in colon cancer cells inhibits the proliferation, cell motility, and chemotactic invasion of cells. This gene is part of a cluster of similar genes found on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
MS4A14	chr11	60378530	60417756	+	ENSG00000166928.10	protein_coding	MS4A16|NYD-SP21	11q12.2	membrane spanning 4-domains A14	Biased expression in testis (RPKM 42.8), lung (RPKM 3.7) and 1 other tissue
MS4A15	chr11	60756953	60776732	+	ENSG00000166961.14	protein_coding	-	11q12.2	membrane spanning 4-domains A15	-
MS4A2	chr11	60088261	60098466	+	ENSG00000149534.8	protein_coding	APY|ATOPY|FCER1B|FCERI|IGEL|IGER|IGHER	11q12.1	membrane spanning 4-domains A2	The allergic response involves the binding of allergen to receptor-bound IgE followed by cell activation and the release of mediators responsible for the manifestations of allergy. The IgE-receptor, a tetramer composed of an alpha, beta, and 2 disulfide-linked gamma chains, is found on the surface of mast cells and basophils. This gene encodes the beta subunit of the high affinity IgE receptor which is a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member is localized to 11q12, among a cluster of membrane-spanning 4A gene family members. Alternative splicing results in multiple transcript variants encoding distinct proteins. Additional transcript variants have been described but require experimental validation. [provided by RefSeq, Mar 2012]
MS4A3	chr11	60056587	60071128	+	ENSG00000149516.13	protein_coding	CD20L|HTM4	11q12.1	membrane spanning 4-domains A3	This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member likely plays a role in signal transduction and may function as a subunit associated with receptor complexes. The gene encoding this protein is localized to 11q12, among a cluster of related family members. Alternative splicing may result in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
MS4A4A	chr11	60280541	60308972	+	ENSG00000110079.16	protein_coding	4SPAN1|CD20-L1|CD20L1|HDCME31P|MS4A4|MS4A7	11q12.2	membrane spanning 4-domains A4A	This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features, similar intron/exon splice boundaries, and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
MS4A4E	chr11	60201253	60243088	-	ENSG00000214787.9	protein_coding	-	11q12.2	membrane spanning 4-domains A4E	Low expression observed in reference dataset
MS4A6A	chr11	60172014	60184666	-	ENSG00000110077.14	protein_coding	4SPAN3|4SPAN3.2|CD20L3|CDA01|MS4A6|MST090|MSTP090	11q12.2	membrane spanning 4-domains A6A	This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.1, among a cluster of family members. Alternative splicing of this gene results in several transcript variants that encode different protein isoforms. [provided by RefSeq, Oct 2011]
MS4A6E	chr11	60334831	60396596	+	ENSG00000166926.8	protein_coding	-	11q12.2	membrane spanning 4-domains A6E	Restricted expression toward testis (RPKM 32.3)
MS4A7	chr11	60378482	60395951	+	ENSG00000166927.12	protein_coding	4SPAN2|CD20L4|CFFM4|MS4A8	11q12.2	membrane spanning 4-domains A7	This gene encodes a member of the membrane-spanning 4A gene family, members of which are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. This family member is associated with mature cellular function in the monocytic lineage, and it may be a component of a receptor complex involved in signal transduction. This gene is localized to 11q12, in a cluster of other family members. At least four alternatively spliced transcript variants encoding two distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
MS4A8	chr11	60699574	60715811	+	ENSG00000166959.7	protein_coding	4SPAN4|CD20L5|MS4A4|MS4A8B	11q12.2	membrane spanning 4-domains A8	This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. [provided by RefSeq, Jul 2008]
MSANTD1	chr4	3244369	3271738	+	ENSG00000188981.10	protein_coding	C4orf44	4p16.3	Myb/SANT DNA binding domain containing 1	Ubiquitous expression in spleen (RPKM 2.6), testis (RPKM 2.5) and 25 other tissues
MSANTD2	chr11	124766498	124800673	-	ENSG00000120458.10	protein_coding	C11orf61	11q24.2	Myb/SANT DNA binding domain containing 2	Ubiquitous expression in thyroid (RPKM 1.6), endometrium (RPKM 1.2) and 25 other tissues
MSANTD4	chr11	105995623	106022403	-	ENSG00000170903.10	protein_coding	KIAA1826	11q22.3	Myb/SANT DNA binding domain containing 4 with coiled-coils	Ubiquitous expression in brain (RPKM 8.0), thyroid (RPKM 6.3) and 25 other tissues
MSC	chr8	71841549	71844468	-	ENSG00000178860.8	protein_coding	ABF-1|ABF1|MYOR|bHLHa22	8q13.3	musculin	The protein encoded by this gene is a transcriptional repressor capable of binding an E-box element either as a homodimer or as a heterodimer with E2A in vitro. The encoded protein also forms heterodimers with E2A proteins in vivo. This protein is capable of inhibiting the transactivation capability of E47, an E2A protein, in mammalian cells. This gene is a downstream target of the B-cell receptor signal transduction pathway. [provided by RefSeq, Jul 2008]
MSH2	chr2	47402969	47562311	+	ENSG00000095002.13	protein_coding	COCA1|FCC1|HNPCC|HNPCC1|LCFS2|MMRCS2|hMSH2	2p21-p16.3	mutS homolog 2	This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
MSH3	chr5	80654648	80876460	+	ENSG00000113318.9	protein_coding	DUP|FAP4|MRP1	5q14.1	mutS homolog 3	The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011]
MSH5	chr6	31739948	31762834	+	ENSG00000204410.14	protein_coding	G7|MUTSH5|NG23|POF13	6p21.33	mutS homolog 5	This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene. [provided by RefSeq, Feb 2011]
MSH6	chr2	47695530	47810101	+	ENSG00000116062.14	protein_coding	GTBP|GTMBP|HNPCC5|HSAP|MMRCS3|p160	2p16.3	mutS homolog 6	This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
MSI1	chr12	120341330	120369180	-	ENSG00000135097.6	protein_coding	-	12q24.31	musashi RNA binding protein 1	Broad expression in testis (RPKM 2.5), brain (RPKM 2.0) and 14 other tissues
MSI2	chr17	57255851	57684685	+	ENSG00000153944.10	protein_coding	MSI2H	17q22	musashi RNA binding protein 2	This gene encodes an RNA-binding protein that is a member of the Musashi protein family. The encoded protein is transcriptional regulator that targets genes involved in development and cell cycle regulation. Mutations in this gene are associated with poor prognosis in certain types of cancers. This gene has also been shown to be rearranged in certain cancer cells. [provided by RefSeq, Apr 2016]
MSL1	chr17	40122298	40136916	+	ENSG00000188895.11	protein_coding	MSL-1	17q21.1	MSL complex subunit 1	Ubiquitous expression in testis (RPKM 22.1), brain (RPKM 17.6) and 25 other tissues
MSL2	chr3	136148922	136197241	-	ENSG00000174579.3	protein_coding	MSL-2|MSL2L1|RNF184	3q22.3	MSL complex subunit 2	Ubiquitous expression in bone marrow (RPKM 16.6), lymph node (RPKM 11.8) and 25 other tissues
MSL3	chrX	11758159	11775753	+	ENSG00000005302.17	protein_coding	MRSXBA|MRXS36|MRXSBA|MSL3L1	Xp22.2	MSL complex subunit 3	This gene encodes a nuclear protein that is similar to the product of the Drosophila male-specific lethal-3 gene. The Drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females. Thus, the human protein is thought to play a similar function in chromatin remodeling and transcriptional regulation, and it has been found as part of a complex that is responsible for histone H4 lysine-16 acetylation. This gene can undergo X inactivation. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 7 and 8. [provided by RefSeq, Jul 2010]
MSLN	chr16	760762	768865	+	ENSG00000102854.15	protein_coding	MPF|SMRP	16p13.3	mesothelin	This gene encodes a preproprotein that is proteolytically processed to generate two protein products, megakaryocyte potentiating factor and mesothelin. Megakaryocyte potentiating factor functions as a cytokine that can stimulate colony formation of bone marrow megakaryocytes. Mesothelin is a glycosylphosphatidylinositol-anchored cell-surface protein that may function as a cell adhesion protein. This protein is overexpressed in epithelial mesotheliomas, ovarian cancers and in specific squamous cell carcinomas. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
MSLNL	chr16	769428	783370	-	ENSG00000162006.9	protein_coding	C16orf37|MPFL	16p13.3	mesothelin like	Predicted to be involved in cell-matrix adhesion. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be active in cell surface. [provided by Alliance of Genome Resources, Apr 2022]
MSMB	chr10	46033307	46046269	-	ENSG00000263639.5	protein_coding	HPC13|IGBF|MSP|MSPB|PN44|PRPS|PSP|PSP-94|PSP57|PSP94	10q11.22	microseminoprotein beta	The protein encoded by this gene is a member of the immunoglobulin binding factor family. It is synthesized by the epithelial cells of the prostate gland and secreted into the seminal plasma. This protein has inhibin-like activity. It may have a role as an autocrine paracrine factor in uterine, breast and other female reproductive tissues. The expression of the encoded protein is found to be decreased in prostate cancer. Two alternatively spliced transcript variants encoding different isoforms are described for this gene. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]
MSN	chrX	65588377	65741931	+	ENSG00000147065.16	protein_coding	HEL70|IMD50	Xq12	moesin	Moesin (for membrane-organizing extension spike protein) is a member of the ERM family which includes ezrin and radixin. ERM proteins appear to function as cross-linkers between plasma membranes and actin-based cytoskeletons. Moesin is localized to filopodia and other membranous protrusions that are important for cell-cell recognition and signaling and for cell movement. [provided by RefSeq, Jul 2008]
MSR1	chr8	16107878	16567490	-	ENSG00000038945.14	protein_coding	CD204|SCARA1|SR-A|SR-AI|SR-AII|SR-AIII|SRA|phSR1|phSR2	8p22	macrophage scavenger receptor 1	This gene encodes the class A macrophage scavenger receptors, which include three different types (1, 2, 3) generated by alternative splicing of this gene. These receptors or isoforms are macrophage-specific trimeric integral membrane glycoproteins and have been implicated in many macrophage-associated physiological and pathological processes including atherosclerosis, Alzheimers disease, and host defense. The isoforms type 1 and type 2 are functional receptors and are able to mediate the endocytosis of modified low density lipoproteins (LDLs). The isoform type 3 does not internalize modified LDL (acetyl-LDL) despite having the domain shown to mediate this function in the types 1 and 2 isoforms. It has an altered intracellular processing and is trapped within the endoplasmic reticulum, making it unable to perform endocytosis. The isoform type 3 can inhibit the function of isoforms type 1 and type 2 when co-expressed, indicating a dominant negative effect and suggesting a mechanism for regulation of scavenger receptor activity in macrophages. [provided by RefSeq, Jul 2008]
MSRA	chr8	10054268	10428891	+	ENSG00000175806.14	protein_coding	PMSR	8p23.1	methionine sulfoxide reductase A	This gene encodes a ubiquitous and highly conserved protein that carries out the enzymatic reduction of methionine sulfoxide to methionine. Human and animal studies have shown the highest levels of expression in kidney and nervous tissue. The protein functions in the repair of oxidatively damaged proteins to restore biological activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
MSRB1	chr16	1938210	1943326	-	ENSG00000198736.11	protein_coding	HSPC270|SELENOR|SELENOX|SELR|SELX|SEPX1|SepR	16p13.3	methionine sulfoxide reductase B1	The protein encoded by this gene belongs to the methionine-R-sulfoxide reductase B (MsrB) family. Members of this family function as repair enzymes that protect proteins from oxidative stress by catalyzing the reduction of methionine-R-sulfoxides to methionines. This protein is highly expressed in liver and kidney, and is localized to the nucleus and cytosol. It is the only member of the MsrB family that is a selenoprotein, containing a selenocysteine (Sec) residue at its active site. It also has the highest methionine-R-sulfoxide reductase activity compared to other members containing cysteine in place of Sec. Sec is encoded by the UGA codon, which normally signals translation termination. The 3 UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A pseudogene of this locus has been identified on chromosome 19. [provided by RefSeq, Aug 2017]
MSRB2	chr10	23095506	23122013	+	ENSG00000148450.12	protein_coding	CBS-1|CBS1|CGI-131|MSRB|PILB	10p12.2	methionine sulfoxide reductase B2	Ubiquitous expression in heart (RPKM 17.2), liver (RPKM 8.9) and 24 other tissues
MSRB3	chr12	65278643	65488244	+	ENSG00000174099.10	protein_coding	DFNB74	12q14.3	methionine sulfoxide reductase B3	The protein encoded by this gene catalyzes the reduction of methionine sulfoxide to methionine. This enzyme acts as a monomer and requires zinc as a cofactor. Several transcript variants encoding two different isoforms have been found for this gene. One of the isoforms localizes to mitochondria while the other localizes to endoplasmic reticula. [provided by RefSeq, Jul 2010]
MSS51	chr10	73423579	73433561	-	ENSG00000166343.9	protein_coding	ZMYND17	10q22.2	MSS51 mitochondrial translational activator	Broad expression in heart (RPKM 4.1), skin (RPKM 1.3) and 23 other tissues
MST1	chr3	49683947	49689501	-	ENSG00000173531.15	protein_coding	D3F15S2|DNF15S2|HGFL|MSP|NF15S2	3p21.31	macrophage stimulating 1	The protein encoded by this gene contains four kringle domains and a serine protease domain, similar to that found in hepatic growth factor. Despite the presence of the serine protease domain, the encoded protein may not have any proteolytic activity. The receptor for this protein is RON tyrosine kinase, which upon activation stimulates ciliary motility of ciliated epithelial lung cells. This protein is secreted and cleaved to form an alpha chain and a beta chain bridged by disulfide bonds. [provided by RefSeq, Jan 2010]
MST1L	chr1	16754910	16770237	-	ENSG00000186715.10	transcribed_unprocessed_pseudogene	BRF-1|D1F15S1A|MSPL-7|MSPL7|MST1P9|MSTP7|MSTP9	1p36.13	macrophage stimulating 1 like (pseudogene)	-
MST1P2	chr1	16645622	16650289	+	ENSG00000186301.8	unprocessed_pseudogene	MSPL-1|MSPL-2|MSPL-3|MSPL1|MSPL2|MSPL3|MSTP1|MSTP2|MSTP3	1p36.13	macrophage stimulating 1 pseudogene 2	-
MST1R	chr3	49887002	49903873	-	ENSG00000164078.12	protein_coding	CD136|CDw136|NPCA3|PTK8|RON|SEA	3p21.31	macrophage stimulating 1 receptor	This gene encodes a cell surface receptor for macrophage-stimulating protein (MSP) with tyrosine kinase activity. The mature form of this protein is a heterodimer of disulfide-linked alpha and beta subunits, generated by proteolytic cleavage of a single-chain precursor. The beta subunit undergoes tyrosine phosphorylation upon stimulation by MSP. This protein is expressed on the ciliated epithelia of the mucociliary transport apparatus of the lung, and together with MSP, thought to be involved in host defense. Alternative splicing generates multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]
MSTN	chr2	190055697	190062729	-	ENSG00000138379.4	protein_coding	GDF8|MSLHP	2q32.2	myostatin	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein negatively regulates skeletal muscle cell proliferation and differentiation. Mutations in this gene are associated with increased skeletal muscle mass in humans and other mammals. [provided by RefSeq, Jul 2016]
MSTO1	chr1	155610205	155614967	+	ENSG00000125459.14	protein_coding	LST005|MMYAT|MST	1q22	misato mitochondrial distribution and morphology regulator 1	Ubiquitous expression in testis (RPKM 18.6), fat (RPKM 12.3) and 25 other tissues
MSTO2P	chr1	155745829	155750137	+	ENSG00000203761.5	unprocessed_pseudogene	MSTO2	1q22	misato family member 2, pseudogene	-
MSX1	chr4	4859666	4863936	+	ENSG00000163132.6	protein_coding	ECTD3|HOX7|HYD1|STHAG1	4p16.2	msh homeobox 1	This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome, and autosomoal dominant hypodontia. [provided by RefSeq, Jul 2008]
MT1A	chr16	56638666	56640087	+	ENSG00000205362.11	protein_coding	MT-1A|MT-IA|MT1|MT1S|MTC	16q13	metallothionein 1A	This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions. The conserved cysteine residues co-ordinate metal ions using mercaptide linkages. These proteins act as anti-oxidants, protect against hydroxyl free radicals, are important in homeostatic control of metal in the cell, and play a role in detoxification of heavy metals. Disruption of two metallothionein genes in mouse resulted in defects in protection against heavy metals, oxidative stress, immune reactions, carcinogens, and displayed obesity. [provided by RefSeq, Sep 2017]
MT1B	chr16	56651899	56653204	+	ENSG00000169688.10	protein_coding	MT-1B|MT-IB|MT1|MT1Q|MTP	16q13	metallothionein 1B	The protein encoded by this gene binds heavy metals and protects against toxicity from heavy metal ions. This gene is found in a cluster of similar genes on chromosome 16. [provided by RefSeq, Jul 2016]
MT1DP	chr16	56643705	56644786	+	ENSG00000205361.8	transcribed_unprocessed_pseudogene	MTM	16q13	metallothionein 1D, pseudogene	-
MT1E	chr16	56625475	56627112	+	ENSG00000169715.14	protein_coding	MT-1E|MT-IE|MT1|MTD	16q13	metallothionein 1E	Broad expression in liver (RPKM 106.4), small intestine (RPKM 103.9) and 20 other tissues
MT1F	chr16	56657694	56660698	+	ENSG00000198417.6	protein_coding	MT1	16q13	metallothionein 1F	Biased expression in thyroid (RPKM 263.0), kidney (RPKM 198.1) and 9 other tissues
MT1G	chr16	56666731	56668065	-	ENSG00000125144.13	protein_coding	MT1|MT1K	16q13	metallothionein 1G	Biased expression in kidney (RPKM 963.2), thyroid (RPKM 736.8) and 7 other tissues
MT1H	chr16	56669814	56671129	+	ENSG00000205358.3	protein_coding	MT-0|MT-1H|MT-IH|MT1	16q13	metallothionein 1H	Biased expression in kidney (RPKM 179.8), small intestine (RPKM 88.9) and 6 other tissues
MT1JP	chr16	56635739	56637086	+	ENSG00000255986.6	transcribed_unprocessed_pseudogene	MT1|MT1J|MT1NP|MTB	16q13	metallothionein 1J, pseudogene	Low expression observed in reference dataset
MT1L	chr16	56617476	56618818	+	ENSG00000260549.1	transcribed_unitary_pseudogene	MT1|MT1R|MTF	16q13	metallothionein 1L, pseudogene	Ubiquitous expression in fat (RPKM 9.1), adrenal (RPKM 6.9) and 24 other tissues
MT1M	chr16	56632233	56633986	+	ENSG00000205364.3	protein_coding	MT-1M|MT-IM|MT1|MT1K	16q13	metallothionein 1M	This gene encodes a member of the metallothionein superfamily, type 1 family. Metallothioneins have a high content of cysteine residues that bind various heavy metals. These genes are transcriptionally regulated by both heavy metals and glucocorticoids. [provided by RefSeq, Oct 2011]
MT1P1	chr9	95413267	95413449	-	ENSG00000213761.4	processed_pseudogene	bA435O5.3	9q22.32	metallothionein 1 pseudogene 1	-
MT1X	chr16	56682424	56684196	+	ENSG00000187193.8	protein_coding	MT-1l|MT1	16q13	metallothionein 1X	Broad expression in liver (RPKM 301.6), kidney (RPKM 245.8) and 16 other tissues
MT2A	chr16	56608199	56609497	+	ENSG00000125148.6	protein_coding	MT-2|MT-II|MT2	16q13	metallothionein 2A	This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions, altering the intracellular concentration of heavy metals in the cell. These proteins act as anti-oxidants, protect against hydroxyl free radicals, are important in homeostatic control of metal in the cell, and play a role in detoxification of heavy metals. The encoded protein interacts with the protein encoded by the homeobox containing 1 gene in some cell types, controlling intracellular zinc levels, affecting apoptotic and autophagy pathways. Some polymorphisms in this gene are associated with an increased risk of cancer. [provided by RefSeq, Sep 2017]
MT3	chr16	56589074	56591088	+	ENSG00000087250.8	protein_coding	GIF|GIFB|GRIF|ZnMT3	16q13	metallothionein 3	This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions. This gene family member displays tissue-specific expression, and contains a threonine insert near its N-terminus and a glutamate-rich hexapeptide insert near its C-terminus relative to the proteins encoded by other gene family members. It plays an important role in zinc and copper homeostasis, and is induced under hypoxic conditions. The encoded protein is a growth inhibitory factor, and reduced levels of the protein are observed in the brains of individuals with some metal-linked neurodegenerative disorders such as Alzheimers disease. [provided by RefSeq, Sep 2017]
MT4	chr16	56565049	56568957	+	ENSG00000102891.3	protein_coding	MT-4|MT-IV|MTIV	16q13	metallothionein 4	Low expression observed in reference dataset
MTA1	chr14	105419820	105470729	+	ENSG00000182979.17	protein_coding	-	14q32.33	metastasis associated 1	Ubiquitous expression in testis (RPKM 14.9), spleen (RPKM 9.4) and 25 other tissues
MTA2	chr11	62593214	62601840	-	ENSG00000149480.6	protein_coding	MTA1L1|PID	11q12.3	metastasis associated 1 family member 2	This gene encodes a protein that has been identified as a component of NuRD, a nucleosome remodeling deacetylase complex identified in the nucleus of human cells. It shows a very broad expression pattern and is strongly expressed in many tissues. It may represent one member of a small gene family that encode different but related proteins involved either directly or indirectly in transcriptional regulation. Their indirect effects on transcriptional regulation may include chromatin remodeling. It is closely related to another member of this family, a protein that has been correlated with the metastatic potential of certain carcinomas. These two proteins are so closely related that they share the same types of domains. These domains include two DNA binding domains, a dimerization domain, and a domain commonly found in proteins that methylate DNA. One of the proteins known to be a target protein for this gene product is p53. Deacetylation of p53 is correlated with a loss of growth inhibition in transformed cells supporting a connection between these gene family members and metastasis. [provided by RefSeq, May 2011]
MTA3	chr2	42494569	42756947	+	ENSG00000057935.13	protein_coding	-	2p21	metastasis associated 1 family member 3	-
MTAP	chr9	21802543	21937651	+	ENSG00000099810.18	protein_coding	BDMF|DMSFH|DMSMFH|HEL-249|LGMBF|MSAP|c86fus	9p21.3	methylthioadenosine phosphorylase	This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage pathway of both adenine and methionine. The encoded enzyme is deficient in many cancers. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2021]
MTAPP1	chr3	158609610	158610857	-	ENSG00000243025.1	processed_pseudogene	-	3q25.32	methylthioadenosine phosphorylase pseudogene 1	-
MTAPP2	chr3	189969030	189969861	-	ENSG00000230077.1	processed_pseudogene	-	3q28	methylthioadenosine phosphorylase pseudogene 2	-
MTARC1	chr1	 220786913	220819659	+	ENSG00000186205	protein-coding	MARC1|MOSC1	1q41	mitochondrial amidoxime reducing component 1	-
MTATP6P11	chr9	5099560	5100229	+	ENSG00000228097.1	unprocessed_pseudogene	-	9p24.1	MT-ATP6 pseudogene 11	-
MTATP6P26	chr2	120211054	120211715	+	ENSG00000236878.1	processed_pseudogene	-	2q14.2	MT-ATP6 pseudogene 26	-
MTBP	chr8	120445400	120542133	+	ENSG00000172167.7	protein_coding	MDM2BP	8q24.12	MDM2 binding protein	This gene encodes a protein that interacts with the oncoprotein mouse double minute 2. The encoded protein regulates progression through the cell cycle and may be involved in tumor formation. [provided by RefSeq, Aug 2012]
MTCH1	chr6	36968141	36986298	-	ENSG00000137409.19	protein_coding	CGI-64|PIG60|PSAP|SLC25A49	6p21.2	mitochondrial carrier 1	This gene encodes a member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces apoptosis independent of the proapoptotic proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been identified for this gene. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Oct 2012]
MTCH2	chr11	47617315	47642623	-	ENSG00000109919.9	protein_coding	HSPC032|MIMP|SLC25A50	11p11.2	mitochondrial carrier 2	This gene encodes a member of the SLC25 family of nuclear-encoded transporters that are localized in the inner mitochondrial membrane. Members of this superfamily are involved in many metabolic pathways and cell functions. Genome-wide association studies in human have identified single-nucleotide polymorphisms in several loci associated with obesity. This gene is one such locus, which is highly expressed in white adipose tissue and adipocytes, and thought to play a regulatory role in adipocyte differentiation and biology. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target that can produce two isoforms from the same mRNA by use of alternative in-frame translation termination codons. [provided by RefSeq, Dec 2017]
MTCL1	chr18	8705661	8832778	+	ENSG00000168502.17	protein_coding	CCDC165|KIAA0802|SOGA2	18p11.22	microtubule crosslinking factor 1	Enables microtubule binding activity. Predicted to be involved in establishment or maintenance of epithelial cell apical/basal polarity; microtubule bundle formation; and positive regulation of protein targeting to membrane. Located in midbody and spindle pole. [provided by Alliance of Genome Resources, Apr 2022]
MTCO1P11	chr9	5096666	5098193	+	ENSG00000224083.1	unprocessed_pseudogene	-	9p24.1	MT-CO1 pseudogene 11	-
MTCO2P11	chr9	5098341	5099325	+	ENSG00000235917.1	unprocessed_pseudogene	-	9p24.1	MT-CO2 pseudogene 11	-
MTCO2P2	chr18	47853233	47853457	-	ENSG00000267541.1	processed_pseudogene	HsT4010	18q21.1	MT-CO2 pseudogene 2	-
MTCO3P11	chr9	5100236	5101009	+	ENSG00000237711.1	unprocessed_pseudogene	-	9p24.1	MT-CO3 pseudogene 11	-
MTCO3P40	chr9	82427350	82428025	-	ENSG00000228046.2	processed_pseudogene	-	9q21.32	MT-CO3 pseudogene 40	-
MTCO3P43	chr2	120211727	120212862	+	ENSG00000227788.1	processed_pseudogene	-	2q14.2	MT-CO3 pseudogene 43	-
MTCO3P5	chr2	143098898	143099933	-	ENSG00000225476.1	processed_pseudogene	-	2q22.2	MT-CO3 pseudogene 5	-
MTERF1	chr7	91692008	91880720	-	ENSG00000127989.13	protein_coding	MTERF	7q21.2	mitochondrial transcription termination factor 1	This gene encodes a mitochondrial transcription termination factor. This protein participates in attenuating transcription from the mitochondrial genome; this attenuation allows higher levels of expression of 16S ribosomal RNA relative to the tRNA gene downstream. The product of this gene has three leucine zipper motifs bracketed by two basic domains that are all required for DNA binding. There is evidence that, for this protein, the zippers participate in intramolecular interactions that establish the three-dimensional structure required for DNA binding. [provided by RefSeq, Jul 2008]
MTERF2	chr12	106977291	106987166	-	ENSG00000120832.9	protein_coding	MTERFD3|mTERFL	12q23.3	mitochondrial transcription termination factor 2	Ubiquitous expression in adrenal (RPKM 8.7), skin (RPKM 7.9) and 25 other tissues
MTERF3	chr8	96239398	96261610	-	ENSG00000156469.8	protein_coding	CGI-12|MTERFD1	8q22.1	mitochondrial transcription termination factor 3	Ubiquitous expression in adrenal (RPKM 7.1), appendix (RPKM 6.9) and 25 other tissues
MTERF4	chr2	241072169	241102332	-	ENSG00000122085.16	protein_coding	MTERFD2	2q37.3	mitochondrial transcription termination factor 4	Ubiquitous expression in ovary (RPKM 7.9), thyroid (RPKM 7.8) and 25 other tissues
MTF1	chr1	37809567	37859620	-	ENSG00000188786.9	protein_coding	MTF-1|ZRF	1p34.3	metal regulatory transcription factor 1	This gene encodes a transcription factor that induces expression of metallothioneins and other genes involved in metal homeostasis in response to heavy metals such as cadmium, zinc, copper, and silver. The protein is a nucleocytoplasmic shuttling protein that accumulates in the nucleus upon heavy metal exposure and binds to promoters containing a metal-responsive element (MRE). [provided by RefSeq, Jul 2008]
MTF2	chr1	93079235	93139081	+	ENSG00000143033.17	protein_coding	M96|PCL2|TDRD19A|dJ976O13.2	1p22.1	metal response element binding transcription factor 2	Ubiquitous expression in testis (RPKM 5.1), lymph node (RPKM 4.5) and 25 other tissues
MTFMT	chr15	65001512	65029639	-	ENSG00000103707.9	protein_coding	COXPD15|FMT1|MC1DN27	15q22.31	mitochondrial methionyl-tRNA formyltransferase	The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011]
MTFP1	chr22	30425530	30429053	+	ENSG00000242114.5	protein_coding	HSPC242|MTP18	22q12.2	mitochondrial fission process 1	MTP18 is a mitochondrial protein and downstream target of the phosphatidylinositol 3-kinase (see PIK3CA, MIM 171834) signaling pathway that plays a role in cell viability and mitochondrial dynamics (Tondera et al., 2004 [PubMed 15155745]).[supplied by OMIM, Mar 2008]
MTFR1	chr8	65644734	65771261	+	ENSG00000066855.15	protein_coding	CHPPR|FAM54A2	8q13.1	mitochondrial fission regulator 1	This gene encodes a mitochondrial protein that is characterized by a poly-proline rich region. A chicken homolog of this protein promotes mitochondrial fission and the mouse homolog protects cells from oxidative stress. A related pseudogene of this gene is found on chromosome X. [provided by RefSeq, Mar 2009]
MTFR1L	chr1	25818640	25832942	+	ENSG00000117640.17	protein_coding	FAM54B|HYST1888|MST116|MSTP116	1p36.11	mitochondrial fission regulator 1 like	Ubiquitous expression in heart (RPKM 46.8), adrenal (RPKM 39.4) and 25 other tissues
MTG2	chr20	62183029	62203568	+	ENSG00000101181.17	protein_coding	GTPBP5|ObgH1|dJ1005F21.2	20q13.33	mitochondrial ribosome associated GTPase 2	Small G proteins, such as GTPBP5, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]
MTHFD1	chr14	64388031	64463457	+	ENSG00000100714.15	protein_coding	CIMAH|MTHFC|MTHFD	14q23.3	methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1	This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]
MTHFD1L	chr6	150865549	151101887	+	ENSG00000120254.15	protein_coding	FTHFSDC1|MTC1THFS|dJ292B18.2	6q25.1	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like	The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]
MTHFD2	chr2	74198562	74217565	+	ENSG00000065911.11	protein_coding	NMDMC	2p13.1	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	This gene encodes a nuclear-encoded mitochondrial bifunctional enzyme with methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The enzyme functions as a homodimer and is unique in its absolute requirement for magnesium and inorganic phosphate. Formation of the enzyme-magnesium complex allows binding of NAD. Alternative splicing results in two different transcripts, one protein-coding and the other not protein-coding. This gene has a pseudogene on chromosome 7. [provided by RefSeq, Mar 2009]
MTHFD2L	chr4	74114174	74303099	+	ENSG00000163738.18	protein_coding	-	4q13.3	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like	-
MTHFD2P6	chr5	41967139	41968366	-	ENSG00000249266.1	processed_pseudogene	-	5p13.1	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 6	-
MTHFR	chr1	11785723	11806920	-	ENSG00000177000.10	protein_coding	-	1p36.22	methylenetetrahydrofolate reductase	Ubiquitous expression in lung (RPKM 7.5), thyroid (RPKM 7.2) and 25 other tissues
MTHFS	chr15	79833585	79897379	-	ENSG00000136371.10	protein_coding	HsT19268|NEDMEHM	15q25.1	methenyltetrahydrofolate synthetase	The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
MTHFSD	chr16	86530176	86555235	-	ENSG00000103248.18	protein_coding	-	16q24.1	methenyltetrahydrofolate synthetase domain containing	-
MTIF2	chr2	55236595	55269347	-	ENSG00000085760.14	protein_coding	-	2p16.1	mitochondrial translational initiation factor 2	Ubiquitous expression in colon (RPKM 8.3), thyroid (RPKM 7.3) and 25 other tissues
MTIF3	chr13	27435643	27450591	-	ENSG00000122033.14	protein_coding	IF3mt	13q12.2	mitochondrial translational initiation factor 3	This gene encodes a translation initiation factor that is involved in mitochondrial protein synthesis. Polymorphism in this gene is associated with the onset of Parkinsons disease. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Oct 2009]
MTMR10	chr15	30938941	30991607	-	ENSG00000166912.16	protein_coding	-	15q13.3	myotubularin related protein 10	-
MTMR11	chr1	149928651	149936869	-	ENSG00000014914.20	protein_coding	CRA	1q21.2	myotubularin related protein 11	Broad expression in duodenum (RPKM 30.4), small intestine (RPKM 29.8) and 17 other tissues
MTMR12	chr5	32226994	32313009	-	ENSG00000150712.10	protein_coding	3-PAP|PIP3AP	5p13.3	myotubularin related protein 12	Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
MTMR14	chr3	9649433	9702393	+	ENSG00000163719.19	protein_coding	C3orf29	3p25.3	myotubularin related protein 14	This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]
MTMR2	chr11	95832882	95925315	-	ENSG00000087053.18	protein_coding	CMT4B|CMT4B1	11q21	myotubularin related protein 2	This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
MTMR3	chr22	29883155	30030866	+	ENSG00000100330.15	protein_coding	FYVE-DSP1|ZFYVE10	22q12.2	myotubularin related protein 3	This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
MTMR4	chr17	58489529	58517905	-	ENSG00000108389.9	protein_coding	FYVE-DSP2|ZFYVE11	17q22	myotubularin related protein 4	Ubiquitous expression in testis (RPKM 12.1), brain (RPKM 10.5) and 25 other tissues
MTMR6	chr13	25246201	25288009	-	ENSG00000139505.11	protein_coding	-	13q12.13	myotubularin related protein 6	-
MTMR9	chr8	11284416	11328146	+	ENSG00000104643.9	protein_coding	C8orf9|LIP-STYX|MTMR8	8p23.1	myotubularin related protein 9	This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. [provided by RefSeq, Jul 2008]
MTMR9LP	chr1	32231658	32241620	-	ENSG00000220785.7	transcribed_unprocessed_pseudogene	MTMR9L	1p35.2	myotubularin related protein 9 like, pseudogene	-
MTND1P11	chr9	5094139	5095014	+	ENSG00000228166.1	unprocessed_pseudogene	-	9p24.1	MT-ND1 pseudogene 11	-
MTND3P5	chr4	25720099	25720431	-	ENSG00000251353.1	unprocessed_pseudogene	-	4p15.2	MT-ND3 pseudogene 5	-
MTND3P9	chr2	143098484	143098829	-	ENSG00000227557.1	processed_pseudogene	-	2q22.2	MT-ND3 pseudogene 9	-
MTND4P14	chr9	5107937	5109290	+	ENSG00000236254.1	unprocessed_pseudogene	-	9p24.1	MT-ND4 pseudogene 14	-
MTND4P23	chr2	201213298	201214660	-	ENSG00000225796.2	unprocessed_pseudogene	-	2q33.1	MT-ND4 pseudogene 23	-
MTND4P26	chr2	120213631	120214989	+	ENSG00000234065.2	processed_pseudogene	-	2q14.2	MT-ND4 pseudogene 26	-
MTND5P14	chr9	5109496	5110762	+	ENSG00000230225.1	unprocessed_pseudogene	-	9p24.1	MT-ND5 pseudogene 14	-
MTND5P28	chr2	120215181	120217279	+	ENSG00000223549.1	processed_pseudogene	-	2q14.2	MT-ND5 pseudogene 28	-
MTND6P5	chr9	5091093	5091604	+	ENSG00000227730.2	unprocessed_pseudogene	-	9p24.1	MT-ND6 pseudogene 5	-
MTNR1B	chr11	92969720	92985066	+	ENSG00000134640.2	protein_coding	FGQTL2|MEL-1B-R|MT2	11q14.3	melatonin receptor 1B	This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This gene product is an integral membrane protein that is a G-protein coupled, 7-transmembrane receptor. It is found primarily in the retina and brain although this detection requires RT-PCR. It is thought to participate in light-dependent functions in the retina and may be involved in the neurobiological effects of melatonin. [provided by RefSeq, Jul 2008]
MTOR	chr1	11106535	11262507	-	ENSG00000198793.12	protein_coding	FRAP|FRAP1|FRAP2|RAFT1|RAPT1|SKS	1p36.22	mechanistic target of rapamycin kinase	The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This kinase is a component of two distinct complexes, mTORC1, which controls protein synthesis, cell growth and proliferation, and mTORC2, which is a regulator of the actin cytoskeleton, and promotes cell survival and cell cycle progression. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. Inhibitors of mTOR are used in organ transplants as immunosuppressants, and are being evaluated for their therapeutic potential in SARS-CoV-2 infections. Mutations in this gene are associated with Smith-Kingsmore syndrome and somatic focal cortical dysplasia type II. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Aug 2020]
MTPAP	chr10	30309801	30374448	-	ENSG00000107951.14	protein_coding	PAPD1|SPAX4|TENT6	10p11.23	mitochondrial poly(A) polymerase	The protein encoded by this gene is a member of the DNA polymerase type-B-like family. This enzyme synthesizes the 3 poly(A) tail of mitochondrial transcripts and plays a role in replication-dependent histone mRNA degradation.[provided by RefSeq, Jan 2011]
MTPN	chr7	135926761	135977353	-	ENSG00000105887.10	protein_coding	GCDP|V-1	7q33	myotrophin	The transcript produced from this gene is bi-cistronic and can encode both myotrophin and leucine zipper protein 6. The myotrophin protein is associated with cardiac hypertrophy, where it is involved in the conversion of NFkappa B p50-p65 heterodimers to p50-p50 and p65-p65 homodimers. This protein also has a potential function in cerebellar morphogenesis, and it may be involved in the differentiation of cerebellar neurons, particularly of granule cells. A cryptic ORF at the 3 end of this transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq, Jul 2008]
MTR	chr1	236795281	236903981	+	ENSG00000116984.12	protein_coding	HMAG|MS|cblG	1q43	5-methyltetrahydrofolate-homocysteine methyltransferase	This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
MTREX	chr5	 55307989	55425579	+	ENSG00000039123	protein-coding	Dob1|KIAA0052|Mtr4|SKIV2L2|fSAP118	5q11.2	Mtr4 exosome RNA helicase	Ubiquitous expression in prostate (RPKM 29.9), gall bladder (RPKM 23.3) and 25 other tissues
MTRF1	chr13	41216369	41263577	-	ENSG00000120662.15	protein_coding	MRF1|MTTRF1|RF1	13q14.11	mitochondrial translation release factor 1	The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. [provided by RefSeq, Jul 2008]
MTRF1L	chr6	152987362	153002685	-	ENSG00000112031.15	protein_coding	HMRF1L|MRF1L|mtRF1a	6q25.2	mitochondrial translation release factor 1 like	The protein encoded by this gene plays a role in mitochondrial translation termination, and is thought to be a release factor that is involved in the dissociation of the complete protein from the final tRNA, the ribosome, and the cognate mRNA. This protein acts upon UAA and UAG stop codons, but has no in vitro activity against UGA, which encodes tryptophan in human mitochondrion, or, the mitochondrial non-cognate stop codons, AGA and AGG. This protein shares sequence similarity to bacterial release factors. Pseudogenes of this gene are found on chromosomes 4, 8, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
MTRF1LP1	chr11	113711720	113712398	+	ENSG00000256091.1	processed_pseudogene	-	11q23.2	mitochondrial translational release factor 1 like pseudogene 1	-
MTRF1LP2	chr8	129728744	129730445	+	ENSG00000224110.3	processed_pseudogene	-	8q24.21	mitochondrial translational release factor 1 like pseudogene 2	-
MTRFR	chr12	 123232914	123257960	+	ENSG00000130921	protein-coding	C12orf65|COXPD7|SPG55	12q24.31	mitochondrial translation release factor in rescue	-
MTRNR2L1	chr17	22523111	22524663	+	ENSG00000256618.2	protein_coding	HN1	17p11.2	MT-RNR2 like 1	Note: It is unclear if this is a transcribed protein-coding gene, or if it is a nuclear pseudogene of the mitochondrial MT-RNR2 gene. [16 Mar 2015]
MTRNR2L4	chr16	3370979	3372740	-	ENSG00000232196.3	protein_coding	HN4	16p13.3	MT-RNR2 like 4	Note: It is unclear if this is a transcribed protein-coding gene, or if it is a nuclear pseudogene of the mitochondrial MT-RNR2 gene. [16 Mar 2015]
MTRNR2L8	chr11	10507887	10509189	-	ENSG00000255823.4	protein_coding	HN8	11p15.4	MT-RNR2 like 8	Note: It is unclear if this is a transcribed protein-coding gene, or if it is a nuclear pseudogene of the mitochondrial MT-RNR2 gene. [16 Mar 2015]
MTRR	chr5	7851186	7906025	+	ENSG00000124275.14	protein_coding	MSR|cblE	5p15.31	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	This gene encodes a member of the ferredoxin-NADP(+) reductase (FNR) family of electron transferases. This protein functions in the synthesis of methionine by regenerating methionine synthase to a functional state. Because methionine synthesis requires methyl-group transfer by a folate donor, activity of the encoded enzyme is important for folate metabolism and cellular methylation. Mutations in this gene can cause homocystinuria-megaloblastic anemia, cbl E type. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]
MTSS1	chr8	124550790	124728429	-	ENSG00000170873.18	protein_coding	MIM|MIMA|MIMB	8q24.13	MTSS I-BAR domain containing 1	Ubiquitous expression in liver (RPKM 5.7), adrenal (RPKM 5.6) and 25 other tissues
MTSS2	chr16	 70661204	70686053	-	ENSG00000132613	protein-coding	ABBA|ABBA-1|ABBA1|MTSS1L	16q22.1	MTSS I-BAR domain containing 2	Broad expression in brain (RPKM 49.9), endometrium (RPKM 14.9) and 19 other tissues
MTTP	chr4	99563761	99623999	+	ENSG00000138823.13	protein_coding	ABL|MTP	4q23	microsomal triglyceride transfer protein	MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008]
MTUS1	chr8	17643795	17800917	-	ENSG00000129422.14	protein_coding	ATBP|ATIP|ATIP3|ICIS|MP44|MTSG1	8p22	microtubule associated scaffold protein 1	This gene encodes a protein which contains a C-terminal domain able to interact with the angiotension II (AT2) receptor and a large coiled-coil region allowing dimerization. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the transcript variants has been shown to encode a mitochondrial protein that acts as a tumor suppressor and partcipates in AT2 signaling pathways. Other variants may encode nuclear or transmembrane proteins but it has not been determined whether they also participate in AT2 signaling pathways. [provided by RefSeq, Jul 2008]
MTX1	chr1	155208699	155213824	+	ENSG00000173171.14	protein_coding	MTX|MTXN	1q22	metaxin 1	Ubiquitous expression in testis (RPKM 23.1), bone marrow (RPKM 13.8) and 25 other tissues
MTX1P1	chr1	155230975	155234325	+	ENSG00000236675.1	unprocessed_pseudogene	MTX1P|MTXP|psMTX	1q22	metaxin 1 pseudogene 1	-
MTX2	chr2	176269395	176338025	+	ENSG00000128654.13	protein_coding	MDPS|metaxin-2	2q31.1	metaxin 2	The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jun 2009]
MTX3	chr5	79976731	79991262	-	ENSG00000177034.14	protein_coding	-	5q14.1	metaxin 3	-
MUC1	chr1	155185824	155192916	-	ENSG00000185499.16	protein_coding	ADMCKD|ADMCKD1|ADTKD2|CA 15-3|CD227|Ca15-3|EMA|H23AG|KL-6|MAM6|MCD|MCKD|MCKD1|MUC-1|MUC-1/SEC|MUC-1/X|MUC1/ZD|PEM|PEMT|PUM	1q22	mucin 1, cell surface associated	This gene encodes a membrane-bound protein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. This protein is expressed on the apical surface of epithelial cells that line the mucosal surfaces of many different tissues including lung, breast stomach and pancreas. This protein is proteolytically cleaved into alpha and beta subunits that form a heterodimeric complex. The N-terminal alpha subunit functions in cell-adhesion and the C-terminal beta subunit is involved in cell signaling. Overexpression, aberrant intracellular localization, and changes in glycosylation of this protein have been associated with carcinomas. This gene is known to contain a highly polymorphic variable number tandem repeats (VNTR) domain. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
MUC12	chr7	100969623	101018949	+	ENSG00000205277.9	protein_coding	MUC-11|MUC-12|MUC11	7q22.1	mucin 12, cell surface associated	This gene encodes an integral membrane glycoprotein that is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces and have been implicated in epithelial renewal and differentiation. These glycoproteins also play a role in intracellular signaling. This protein is expressed on the apical membrane surface of epithelial cells that line the mucosal surfaces of many different tissues including the colon, pancreas, prostate, and uterus. The expression of this gene is downregulated in colorectal cancer tissue. [provided by RefSeq, Apr 2017]
MUC13	chr3	124905442	124953819	-	ENSG00000173702.7	protein_coding	DRCC1|MUC-13	3q21.2	mucin 13, cell surface associated	Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008]
MUC16	chr19	8848844	8981342	-	ENSG00000181143.15	protein_coding	CA125	19p13.2	mucin 16, cell surface associated	This gene encodes a protein that is a member of the mucin family. Mucins are high molecular weight, O-glycosylated proteins that play an important role in forming a protective mucous barrier, and are found on the apical surfaces of the epithelia. The encoded protein is a membrane-tethered mucin that contains an extracellular domain at its amino terminus, a large tandem repeat domain, and a transmembrane domain with a short cytoplasmic domain. The amino terminus is highly glycosylated, while the repeat region contains 156 amino acid repeats unit that are rich in serines, threonines, and prolines. Interspersed within the repeats are Sea urchin sperm protein Enterokinase and Agrin (SEA) modules, leucine-rich repeats and ankyrin (ANK) repeats. These regions together form the ectodomain, and there is a potential cleavage site found near an SEA module close to the transmembrane domain. This protein is thought to play a role in forming a barrier, protecting epithelial cells from pathogens. Products of this gene have been used as a marker for different cancers, with higher expression levels associated with poorer outcomes. [provided by RefSeq, May 2017]
MUC2	chr11	1074875	1110511	+	ENSG00000198788.8	processed_transcript	MLP|MUC-2|SMUC	11p15.5	mucin 2, oligomeric mucus/gel-forming	This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. The protein polymerizes into a gel of which 80% is composed of oligosaccharide side chains by weight. The protein features a central domain containing tandem repeats rich in threonine and proline that varies between 50 and 115 copies in different individuals. Downregulation of this gene has been observed in patients with Crohn disease and ulcerative colitis. [provided by RefSeq, Oct 2016]
MUC20	chr3	195720882	195741123	+	ENSG00000176945.16	protein_coding	MUC-20	3q29	mucin 20, cell surface associated	This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014]
MUC21	chr6	30983718	30989903	+	ENSG00000204544.5	protein_coding	C6orf205|KMQK697|MUC-21	6p21.33	mucin 21, cell surface associated	This gene encodes a large membrane-bound glycoprotein which is a member of the mucin family. Mucins are O-glycosylated proteins that play an essential role in forming protective mucous barriers on epithelial surfaces. These proteins also play a role in intracellular signaling. The encoded protein contains an N-terminal signal sequence, an extracellular mucin domain, a stem domain, a transmembrane domain, and a C-terminal cytoplasmic tail domain. The mucin domain contains O-glycosylation sites and is polymorphic with isoforms containing a variable number of nonidentical proline-, threonine-, and serine-rich tandem repeats of 15 amino acids each. The aberrent expression of this gene is associated with lung adenocarcinoma. [provided by RefSeq, May 2017]
MUC22	chr6	31010474	31035402	+	ENSG00000261272.1	protein_coding	PBMUCL1	6p21.33	mucin 22	Restricted expression toward esophagus (RPKM 9.7)
MUC3A	chr7	100949555	100968346	+	ENSG00000169894.17	protein_coding	MUC-3A|MUC3	7q22.1	mucin 3A, cell surface associated	The mucin genes encode epithelial glycoproteins, some of which are secreted and some membrane bound. Each of the genes contains at least one large domain of tandemly repeated sequence that encodes the peptide sequence rich in serine and/or threonine residues, which carries most of the O-linked glycosylation (Gendler and Spicer, 1995 [PubMed 7778880]).[supplied by OMIM, Aug 2008]
MUC4	chr3	195746765	195812277	-	ENSG00000145113.21	protein_coding	ASGP|HSA276359|MUC-4	3q29	mucin 4, cell surface associated	The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]
MUC5AC	chr11	1157953	1201138	+	ENSG00000215182.8	protein_coding	MUC5|TBM|leB|mucin	11p15.5	mucin 5AC, oligomeric mucus/gel-forming	Predicted to be an extracellular matrix structural constituent. Involved in phosphatidylinositol-mediated signaling. Located in cytoplasm; extracellular space; and mucus layer. Implicated in dry eye syndrome. Biomarker of several diseases, including Sjogrens syndrome; biliary tract disease (multiple); cystic fibrosis; eye disease (multiple); and pancreatic cancer (multiple). [provided by Alliance of Genome Resources, Apr 2022]
MUC5B	chr11	1223066	1262172	+	ENSG00000117983.17	protein_coding	MG1|MUC-5B|MUC5|MUC9	11p15.5	mucin 5B, oligomeric mucus/gel-forming	This gene encodes a member of the mucin family of proteins, which are highly glycosylated macromolecular components of mucus secretions. This family member is the major gel-forming mucin in mucus. It is a major contributor to the lubricating and viscoelastic properties of whole saliva, normal lung mucus and cervical mucus. This gene has been found to be up-regulated in some human diseases, including sinus mucosa of chronic rhinosinusitis (CRS), CRS with nasal polyposis, chronic obstructive pulmonary disease (COPD) and H. pylori-associated gastric disease, and it may be involved in the pathogenesis of these diseases. [provided by RefSeq, Jul 2010]
MUC6	chr11	1012821	1036706	-	ENSG00000184956.15	protein_coding	MUC-6	11p15.5	mucin 6, oligomeric mucus/gel-forming	This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins produced by many epithelial tissues. The protein encoded by this gene is secreted and forms an insoluble mucous barrier that protects the gut lumen. [provided by RefSeq, Dec 2016]
MUC8	chr12	 132471396	132474587	-	-	protein-coding	-	12q24.33	mucin 8	Low expression observed in reference dataset
MUCL3	chr6	 30940973	30954221	+	ENSG00000168631	protein-coding	C6orf37|DPCR1|PBLT	6p21.33	mucin like 3	Restricted expression toward stomach (RPKM 165.4)
MUL1	chr1	20499448	20508161	-	ENSG00000090432.6	protein_coding	C1orf166|GIDE|MAPL|MULAN|RNF218	1p36.12	mitochondrial E3 ubiquitin protein ligase 1	Ubiquitous expression in kidney (RPKM 8.0), heart (RPKM 7.9) and 25 other tissues
MUS81	chr11	65857126	65867653	+	ENSG00000172732.11	protein_coding	SLX3	11q13.1	MUS81 structure-specific endonuclease subunit	This gene encodes a structure-specific endonuclease which belongs to the XPF/MUS81 endonuclease family and plays a critical role in the resolution of recombination intermediates during DNA repair after inter-strand cross-links, replication fork collapse, and DNA double-strand breaks. The encoded protein associates with one of two closely related essential meiotic endonuclease proteins (EME1 or EME2) to form a complex that processes DNA secondary structures. It contains an N-terminal DEAH helicase domain, an excision repair cross complementation group 4 (ERCC4) endonuclease domain, and two tandem C-terminal helix-hairpin-helix domains. Mice with a homozygous knockout of the orthologous gene have significant meiotic defects including the failure to repair a subset of DNA double strand breaks. [provided by RefSeq, Jun 2017]
MUSK	chr9	110668771	110801620	+	ENSG00000030304.13	protein_coding	CMS9|FADS|FADS1	9q31.3	muscle associated receptor tyrosine kinase	This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]
MUSTN1	chr3	52833114	52835219	-	ENSG00000272573.5	protein_coding	MUSTANG	3p21.1	musculoskeletal, embryonic nuclear protein 1	Ubiquitous expression in prostate (RPKM 20.1), fat (RPKM 15.3) and 23 other tissues
MUTYH	chr1	45329163	45340470	-	ENSG00000132781.17	protein_coding	MYH	1p34.1	mutY DNA glycosylase	This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. This gene product is thought to play a role in signaling apoptosis by the introduction of single-strand breaks following oxidative damage. Mutations in this gene result in heritable predisposition to colorectal cancer, termed MUTYH-associated polyposis (MAP). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]
MVB12A	chr19	17405722	17433724	+	ENSG00000141971.12	protein_coding	CFBP|FAM125A	19p13.11	multivesicular body subunit 12A	Ubiquitous expression in ovary (RPKM 33.5), adrenal (RPKM 16.5) and 24 other tissues
MVB12B	chr9	126326849	126507041	+	ENSG00000196814.14	protein_coding	C9orf28|FAM125B	9q33.3	multivesicular body subunit 12B	The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
MVD	chr16	88651935	88663161	-	ENSG00000167508.11	protein_coding	FP17780|MDDase|MPD|POROK7	16q24.2	mevalonate diphosphate decarboxylase	The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. [provided by RefSeq, Jul 2008]
MVK	chr12	109573255	109598117	+	ENSG00000110921.13	protein_coding	LRBP|MK|MVLK|POROK3	12q24.11	mevalonate kinase	This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency caused by mutation of this gene results in mevalonic aciduria, a disease characterized psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia and recurrent febrile crises. Defects in this gene also cause hyperimmunoglobulinaemia D and periodic fever syndrome, a disorder characterized by recurrent episodes of fever associated with lymphadenopathy, arthralgia, gastrointestinal dismay and skin rash. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
MVP	chr16	29820394	29848039	+	ENSG00000013364.18	protein_coding	LRP|VAULT1	16p11.2	major vault protein	This gene encodes the major component of the vault complex. Vaults are multi-subunit ribonucleoprotein structures that may be involved in nucleo-cytoplasmic transport. The encoded protein may play a role in multiple cellular processes by regulating the MAP kinase, JAK/STAT and phosphoinositide 3-kinase/Akt signaling pathways. The encoded protein also plays a role in multidrug resistance, and expression of this gene may be a prognostic marker for several types of cancer. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
MXD1	chr2	69897688	69942945	+	ENSG00000059728.10	protein_coding	BHLHC58|MAD|MAD1	2p13.3	MAX dimerization protein 1	This gene encodes a member of the MYC/MAX/MAD network of basic helix-loop-helix leucine zipper transcription factors. The MYC/MAX/MAD transcription factors mediate cellular proliferation, differentiation and apoptosis. The encoded protein antagonizes MYC-mediated transcriptional activation of target genes by competing for the binding partner MAX and recruiting repressor complexes containing histone deacetylases. Mutations in this gene may play a role in acute leukemia, and the encoded protein is a potential tumor suppressor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
MXD3	chr5	177301461	177312757	-	ENSG00000213347.10	protein_coding	BHLHC13|MAD3|MYX	5q35.3	MAX dimerization protein 3	This gene encodes a member of the Myc superfamily of basic helix-loop-helix leucine zipper transcriptional regulators. The encoded protein forms a heterodimer with the cofactor MAX which binds specific E-box DNA motifs in the promoters of target genes and regulates their transcription. Disruption of the MAX-MXD3 complex is associated with uncontrolled cell proliferation and tumorigenesis. Transcript variants of this gene encoding different isoforms have been described.[provided by RefSeq, Dec 2008]
MXD4	chr4	2247432	2262294	-	ENSG00000123933.16	protein_coding	MAD4|MST149|MSTP149|bHLHc12	4p16.3	MAX dimerization protein 4	This gene is a member of the MAD gene family . The MAD genes encode basic helix-loop-helix-leucine zipper proteins that heterodimerize with MAX protein, forming a transcriptional repression complex. The MAD proteins compete for MAX binding with MYC, which heterodimerizes with MAX forming a transcriptional activation complex. Studies in rodents suggest that the MAD genes are tumor suppressors and contribute to the regulation of cell growth in differentiating tissues. [provided by RefSeq, Jul 2008]
MXI1	chr10	110207605	110287365	+	ENSG00000119950.20	protein_coding	MAD2|MXD2|MXI|bHLHc11	10q25.2	MAX interactor 1, dimerization protein	Expression of the c-myc gene, which produces an oncogenic transcription factor, is tightly regulated in normal cells but is frequently deregulated in human cancers. The protein encoded by this gene is a transcriptional repressor thought to negatively regulate MYC function, and is therefore a potential tumor suppressor. This protein inhibits the transcriptional activity of MYC by competing for MAX, another basic helix-loop-helix protein that binds to MYC and is required for its function. Defects in this gene are frequently found in patients with prostate tumors. Three alternatively spliced transcripts encoding different isoforms have been described. Additional alternatively spliced transcripts may exist but the products of these transcripts have not been verified experimentally. [provided by RefSeq, Jul 2008]
MXRA7	chr17	76672551	76711016	-	ENSG00000182534.13	protein_coding	-	17q25.1	matrix remodeling associated 7	-
MXRA8	chr1	1352689	1361777	-	ENSG00000162576.16	protein_coding	ASP3	1p36.33	matrix remodeling associated 8	Broad expression in gall bladder (RPKM 26.7), fat (RPKM 25.8) and 22 other tissues
MYADM	chr19	53866223	53876437	+	ENSG00000179820.15	protein_coding	SB135	19q13.42	myeloid associated differentiation marker	Ubiquitous expression in lung (RPKM 50.4), gall bladder (RPKM 50.0) and 25 other tissues
MYADML2	chr17	81939645	81947233	-	ENSG00000185105.5	protein_coding	-	17q25.3	myeloid associated differentiation marker like 2	-
MYB	chr6	135181315	135219173	+	ENSG00000118513.18	protein_coding	Cmyb|c-myb|c-myb_CDS|efg	6q23.3	MYB proto-oncogene, transcription factor	This gene encodes a protein with three HTH DNA-binding domains that functions as a transcription regulator. This protein plays an essential role in the regulation of hematopoiesis. This gene may be aberrently expressed or rearranged or undergo translocation in leukemias and lymphomas, and is considered to be an oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
MYBL1	chr8	66562175	66614247	-	ENSG00000185697.16	protein_coding	A-MYB|AMYB	8q13.1	MYB proto-oncogene like 1	Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
MYBL2	chr20	43667019	43716496	+	ENSG00000101057.15	protein_coding	B-MYB|BMYB	20q13.12	MYB proto-oncogene like 2	The protein encoded by this gene, a member of the MYB family of transcription factor genes, is a nuclear protein involved in cell cycle progression. The encoded protein is phosphorylated by cyclin A/cyclin-dependent kinase 2 during the S-phase of the cell cycle and possesses both activator and repressor activities. It has been shown to activate the cell division cycle 2, cyclin D1, and insulin-like growth factor-binding protein 5 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
MYBPC1	chr12	101568353	101686018	+	ENSG00000196091.13	protein_coding	LCCS4|MYBPCC|MYBPCS|MYOTREM|ssMyBP-C	12q23.2	myosin binding protein C1	This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
MYBPC3	chr11	47331397	47352702	-	ENSG00000134571.10	protein_coding	CMD1MM|CMH4|FHC|LVNC10|MYBP-C|cMyBP-C	11p11.2	myosin binding protein C3	MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
MYBPH	chr1	203167811	203175813	-	ENSG00000133055.8	protein_coding	-	1q32.1	myosin binding protein H	-
MYBPHL	chr1	109292365	109307041	-	ENSG00000221986.6	protein_coding	-	1p13.3	myosin binding protein H like	Restricted expression toward heart (RPKM 11.5)
MYC	chr8	127735434	127741434	+	ENSG00000136997.16	protein_coding	MRTL|MYCC|bHLHe39|c-Myc	8q24.21	MYC proto-oncogene, bHLH transcription factor	This gene is a proto-oncogene and encodes a nuclear phosphoprotein that plays a role in cell cycle progression, apoptosis and cellular transformation. The encoded protein forms a heterodimer with the related transcription factor MAX. This complex binds to the E box DNA consensus sequence and regulates the transcription of specific target genes. Amplification of this gene is frequently observed in numerous human cancers. Translocations involving this gene are associated with Burkitt lymphoma and multiple myeloma in human patients. There is evidence to show that translation initiates both from an upstream, in-frame non-AUG (CUG) and a downstream AUG start site, resulting in the production of two isoforms with distinct N-termini. [provided by RefSeq, Aug 2017]
MYCBP	chr1	38862964	38874105	-	ENSG00000214114.8	protein_coding	AMY-1	1p34.3	MYC binding protein	The protein encoded by this gene binds to the N-terminus of the oncogenic protein C-MYC, enhancing the ability of C-MYC to activate E box-dependent transcription. The encoded protein is normally found in the cytoplasm, but it translocates to the nucleus during S phase of the cell cycle and associates with C-MYC. This protein may be involved in spermatogenesis. This gene can be silenced by microRNA-22. Two transcript variants, one protein-coding and the other probably not protein-coding, have been found for this gene. [provided by RefSeq, Nov 2011]
MYCBP2-AS1	chr13	77026767	77129717	+	ENSG00000236051.7	processed_transcript	-	13q22.3	MYCBP2 antisense RNA 1	-
MYCBPAP	chr17	50508384	50531501	+	ENSG00000136449.13	protein_coding	AMAP-1|AMAP1	17q21.33	MYCBP associated protein	Restricted expression toward testis (RPKM 33.9)
MYCL	chr1	39895426	39902256	-	ENSG00000116990.10	protein_coding	L-Myc|LMYC|MYCL1|bHLHe38	1p34.2	MYCL proto-oncogene, bHLH transcription factor	Broad expression in skin (RPKM 18.4), pancreas (RPKM 11.3) and 17 other tissues
MYCNUT	chr2	15920399	15936017	+	ENSG00000223850.1	lincRNA	MYCNUN|lncUSMycN	2p24.3	MYCN upstream transcript	Low expression observed in reference dataset
MYCT1	chr6	152697895	152724567	+	ENSG00000120279.6	protein_coding	MTLC	6q25.2	MYC target 1	Broad expression in spleen (RPKM 14.8), fat (RPKM 8.8) and 22 other tissues
MYD88	chr3	38138478	38143022	+	ENSG00000172936.12	protein_coding	IMD68|MYD88D	3p22.2	MYD88 innate immune signal transduction adaptor	This gene encodes a cytosolic adapter protein that plays a central role in the innate and adaptive immune response. This protein functions as an essential signal transducer in the interleukin-1 and Toll-like receptor signaling pathways. These pathways regulate that activation of numerous proinflammatory genes. The encoded protein consists of an N-terminal death domain and a C-terminal Toll-interleukin1 receptor domain. Patients with defects in this gene have an increased susceptibility to pyogenic bacterial infections. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
MYDGF	chr19	4641374	4670370	-	ENSG00000074842.7	protein_coding	C19orf10|EUROIMAGE1875335|IL25|IL27|IL27w|R33729_1|SF20	19p13.3	myeloid derived growth factor	The protein encoded by this gene was previously thought to support proliferation of lymphoid cells and was considered an interleukin. However, this activity has not been reproducible and the function of this protein is currently unknown. [provided by RefSeq, Jul 2008]
MYEF2	chr15	48134631	48178517	-	ENSG00000104177.17	protein_coding	HsT18564|MEF-2|MST156|MSTP156|myEF-2	15q21.1	myelin expression factor 2	Broad expression in brain (RPKM 7.4), testis (RPKM 5.4) and 22 other tissues
MYEOV	chr11	69294138	69367726	+	ENSG00000172927.7	protein_coding	OCIM	11q13.3	myeloma overexpressed	Biased expression in stomach (RPKM 11.5), esophagus (RPKM 10.9) and 5 other tissues
MYG1	chr12	 53299695	53307177	+	ENSG00000139637	protein-coding	C12orf10|Gamm1|MST024|MSTP024|MYG	12q13.13	MYG1 exonuclease	-
MYH11	chr16	15703172	15857033	-	ENSG00000133392.17	protein_coding	AAT4|FAA4|SMHC|SMMHC|VSCM2	16p13.11	myosin heavy chain 11	The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3 end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
MYH14	chr19	50188186	50310545	+	ENSG00000105357.15	protein_coding	DFNA4|DFNA4A|FP17425|MHC16|MYH17|NMHC II-C|NMHC-II-C|PNMHH|myosin	19q13.33	myosin heavy chain 14	This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
MYH15	chr3	108380369	108529322	-	ENSG00000144821.9	protein_coding	-	3q13.13	myosin heavy chain 15	-
MYH3	chr17	10628526	10657309	-	ENSG00000109063.14	protein_coding	CPSFS1A|CPSFS1B|CPSKF1A|CPSKF1B|DA2A|DA2B|DA2B3|DA8|HEMHC|MYHC-EMB|MYHSE1|SMHCE	17p13.1	myosin heavy chain 3	Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. [provided by RefSeq, Jul 2008]
MYH6	chr14	23381990	23408277	-	ENSG00000197616.11	protein_coding	ASD3|CMD1EE|CMH14|MYHC|MYHCA|SSS3|alpha-MHC	14q11.2	myosin heavy chain 6	Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]
MYH7	chr14	23412738	23435718	-	ENSG00000092054.12	protein_coding	CMD1S|CMH1|MPD1|MYHCB|SPMD|SPMM	14q11.2	myosin heavy chain 7	Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]
MYH7B	chr20	34975403	35002437	+	ENSG00000078814.15	protein_coding	MHC14|MYH14	20q11.22	myosin heavy chain 7B	The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010]
MYH9	chr22	36281281	36388018	-	ENSG00000100345.20	protein_coding	BDPLT6|DFNA17|EPSTS|FTNS|MATINS|MHA|NMHC-II-A|NMMHC-IIA|NMMHCA	22q12.3	myosin heavy chain 9	This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]
MYL1	chr2	210290150	210315190	-	ENSG00000168530.15	protein_coding	MLC1F|MLC3F|MYOFTA	2q34	myosin light chain 1	Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in fast skeletal muscle. Two transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
MYL12A	chr18	3247481	3256236	+	ENSG00000101608.12	protein_coding	HEL-S-24|MLC-2B|MLCB|MRCL3|MRLC3|MYL2B	18p11.31	myosin light chain 12A	This gene encodes a nonsarcomeric myosin regulatory light chain. This protein is activated by phosphorylation and regulates smooth muscle and non-muscle cell contraction. This protein may also be involved in DNA damage repair by sequestering the transcriptional regulator apoptosis-antagonizing transcription factor (AATF)/Che-1 which functions as a repressor of p53-driven apoptosis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8.[provided by RefSeq, Dec 2014]
MYL12B	chr18	3261909	3278284	+	ENSG00000118680.12	protein_coding	MLC-B|MRLC2	18p11.31	myosin light chain 12B	The activity of nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly of myosin II filaments (Iwasaki et al., 2001 [PubMed 11942626]).[supplied by OMIM, Mar 2008]
MYL12BP2	chr4	184299129	184299640	-	ENSG00000227765.4	processed_pseudogene	-	4q35.1	MYL12B pseudogene 2	-
MYL2	chr12	110910819	110920722	-	ENSG00000111245.14	protein_coding	CMH10|MFM12|MLC-2s/v|MLC2	12q24.11	myosin light chain 2	Thus gene encodes the regulatory light chain associated with cardiac myosin beta (or slow) heavy chain. Ca+ triggers the phosphorylation of regulatory light chain that in turn triggers contraction. Mutations in this gene are associated with mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
MYL3	chr3	46857872	46882169	-	ENSG00000160808.9	protein_coding	CMH8|MLC-lV/sb|MLC1SB|MLC1V|VLC1|VLCl	3p21.31	myosin light chain 3	MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
MYL4	chr17	47200446	47223679	+	ENSG00000198336.9	protein_coding	ALC1|AMLC|GT1|PRO1957	17q21.32	myosin light chain 4	Myosin is a hexameric ATPase cellular motor protein. It is composed of two myosin heavy chains, two nonphosphorylatable myosin alkali light chains, and two phosphorylatable myosin regulatory light chains. This gene encodes a myosin alkali light chain that is found in embryonic muscle and adult atria. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
MYL5	chr4	673580	682033	+	ENSG00000215375.6	protein_coding	MYLC2	4p16.3	myosin light chain 5	This gene encodes one of the myosin light chains, a component of the hexameric ATPase cellular motor protein myosin. Myosin is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene product, one of the regulatory light chains, is expressed in fetal muscle and in adult retina, cerebellum, and basal ganglia. [provided by RefSeq, Jul 2008]
MYL6	chr12	56158161	56163496	+	ENSG00000092841.18	protein_coding	ESMLC|LC17|LC17-GI|LC17-NM|LC17A|LC17B|MLC-3|MLC1SM|MLC3NM|MLC3SM	12q13.2	myosin light chain 6	Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain that is expressed in smooth muscle and non-muscle tissues. Genomic sequences representing several pseudogenes have been described and two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
MYL6B	chr12	56152256	56159647	+	ENSG00000196465.10	protein_coding	MLC1SA	12q13.2	myosin light chain 6B	Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain expressed in both slow-twitch skeletal muscle and in nonmuscle tissue. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
MYL7	chr7	44138864	44141332	-	ENSG00000106631.8	protein_coding	MYL2A|MYLC2A	7p13	myosin light chain 7	Restricted expression toward heart (RPKM 2260.5)
MYL9	chr20	36541484	36551447	+	ENSG00000101335.9	protein_coding	LC20|MLC-2C|MLC2|MMIHS4|MRLC1|MYRL2	20q11.23	myosin light chain 9	Myosin, a structural component of muscle, consists of two heavy chains and four light chains. The protein encoded by this gene is a myosin light chain that may regulate muscle contraction by modulating the ATPase activity of myosin heads. The encoded protein binds calcium and is activated by myosin light chain kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
MYLIP	chr6	16129125	16148248	+	ENSG00000007944.14	protein_coding	IDOL|MIR	6p22.3	myosin regulatory light chain interacting protein	The ERM protein family members ezrin, radixin, and moesin are cytoskeletal effector proteins linking actin to membrane-bound proteins at the cell surface. Myosin regulatory light chain interacting protein (MYLIP) is a novel ERM-like protein that interacts with myosin regulatory light chain and inhibits neurite outgrowth. [provided by RefSeq, Jul 2008]
MYLK	chr3	123610049	123884331	-	ENSG00000065534.18	protein_coding	AAT7|KRP|MLCK|MLCK1|MLCK108|MLCK210|MMIHS|MMIHS1|MSTP083|MYLK1|smMLCK	3q21.1	myosin light chain kinase	This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3 region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008]
MYLK2	chr20	31819308	31834689	+	ENSG00000101306.10	protein_coding	KMLC|MLCK|MLCK2|skMLCK	20q11.21	myosin light chain kinase 2	This gene encodes a myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. [provided by RefSeq, Jul 2008]
MYLK3	chr16	46703369	46790407	-	ENSG00000140795.12	protein_coding	MLCK|MLCK2|caMLCK	16q11.2	myosin light chain kinase 3	Phosphorylation of cardiac myosin heavy chains (see MYH7B, MIM 609928) and light chains (see MYL2, MIM 160781) by a kinase, such as MYLK3, potentiates the force and rate of cross-bridge recruitment in cardiac myocytes (Chan et al., 2008 [PubMed 18202317]).[supplied by OMIM, Jul 2008]
MYLK4	chr6	2663629	2750966	-	ENSG00000145949.9	protein_coding	SgK085	6p25.2	myosin light chain kinase family member 4	Ubiquitous expression in kidney (RPKM 1.8), thyroid (RPKM 1.3) and 25 other tissues
MYLPF	chr16	30370934	30377991	+	ENSG00000180209.11	protein_coding	DA1C|HUMMLC2B|MLC2B|MRLC2|MYL11	16p11.2	myosin light chain, phosphorylatable, fast skeletal muscle	Biased expression in prostate (RPKM 32.5) and esophagus (RPKM 15.3)
MYMK	chr9	 133514586	133524959	-	ENSG00000187616	protein-coding	MYOMAKER|TMEM226|TMEM8C	9q34.2	myomaker, myoblast fusion factor	Low expression observed in reference dataset
MYNN	chr3	169772831	169789716	+	ENSG00000085274.15	protein_coding	OSZF|SBBIZ1|ZBTB31|ZNF902	3q26.2	myoneurin	This gene encodes a member of the BTB/POZ and zinc finger domain-containing protein family that are involved in the control of gene expression. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 14. [provided by RefSeq, Jun 2010]
MYO15A	chr17	18108706	18179802	+	ENSG00000091536.16	protein_coding	DFNB3|MYO15	17p11.2	myosin XVA	This gene encodes an unconventional myosin. This protein differs from other myosins in that it has a long N-terminal extension preceding the conserved motor domain. Studies in mice suggest that this protein is necessary for actin organization in the hair cells of the cochlea. Mutations in this gene have been associated with profound, congenital, neurosensory, nonsyndromal deafness. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Read-through transcripts containing an upstream gene and this gene have been identified, but they are not thought to encode a fusion protein. Several alternatively spliced transcript variants have been described, but their full length sequences have not been determined. [provided by RefSeq, Jul 2008]
MYO16	chr13	108596152	109208007	+	ENSG00000041515.15	protein_coding	MYAP3|MYR8|Myo16b|NYAP3|PPP1R107	13q33.3	myosin XVI	This gene encodes an unconventional myosin protein. The encoded protein has been proposed to act as a serine/threonine phosphatase-1 targeting or regulatory subunit. Studies in a rat cell line suggest that this protein may regulate cell cycle progression. A variant within this gene may be associated with susceptibility to schizophrenia and elevated expression of this gene has been observed in the frontal cortex of human schizophrenia patients. [provided by RefSeq, Mar 2017]
MYO16-AS1	chr13	109163902	109201483	-	ENSG00000236242.1	antisense	-	13q33.3	MYO16 antisense RNA 1	-
MYO18A	chr17	29071124	29180412	-	ENSG00000196535.15	protein_coding	MAJN|MYSPDZ|SP-R210|SPR210	17q11.2	myosin XVIIIA	The protein encoded by this gene can bind GOLPH3, linking the Golgi to the cytoskeleton and influencing Golgi membrane trafficking. The encoded protein is also part of a complex that assembles lamellar actomyosin bundles and may be required for cell migration. [provided by RefSeq, Oct 2016]
MYO19	chr17	36495633	36543435	-	ENSG00000278259.4	protein_coding	MYOHD1	17q12	myosin XIX	Ubiquitous expression in skin (RPKM 10.8), esophagus (RPKM 7.0) and 25 other tissues
MYO1A	chr12	57028517	57051198	-	ENSG00000166866.12	protein_coding	BBMI|DFNA48|MIHC|MYHL	12q13.3	myosin IA	This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional skeletal muscle myosin-1 (MYH1). Unconventional myosins contain the basic domains characteristic of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with autosomal dominant deafness. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Dec 2011]
MYO1B	chr2	191245185	191425389	+	ENSG00000128641.18	protein_coding	MMI-alpha|MMIa|MYH-1c|myr1	2q32.3	myosin IB	Broad expression in liver (RPKM 53.1), lung (RPKM 45.2) and 23 other tissues
MYO1C	chr17	1464098	1492812	-	ENSG00000197879.14	protein_coding	MMI-beta|MMIb|NMI|myr2	17p13.3	myosin IC	This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. The mouse ortholog of this protein also functions in intracellular vesicle transport to the plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. The related gene myosin IE has been referred to as myosin IC in the literature, but it is a distinct locus on chromosome 19. [provided by RefSeq, Jul 2008]
MYO1D	chr17	32492522	32877177	-	ENSG00000176658.16	protein_coding	PPP1R108|myr4	17q11.2	myosin ID	Broad expression in colon (RPKM 49.5), small intestine (RPKM 32.7) and 22 other tissues
MYO1E	chr15	59132434	59372900	-	ENSG00000157483.8	protein_coding	FSGS6|HuncM-IC|MYO1C	15q22.2	myosin IE	This gene encodes a member of the nonmuscle class I myosins which are a subgroup of the unconventional myosin protein family. The unconventional myosin proteins function as actin-based molecular motors. Class I myosins are characterized by a head (motor) domain, a regulatory domain and a either a short or long tail domain. Among the class I myosins, this protein is distinguished by a long tail domain that is involved in crosslinking actin filaments. This protein localizes to the cytoplasm and may be involved in intracellular movement and membrane trafficking. Mutations in this gene are the cause of focal segmental glomerulosclerosis-6. This gene has been referred to as myosin IC in the literature but is distinct from the myosin IC gene located on chromosome 17. [provided by RefSeq, Jan 2012]
MYO1F	chr19	8520790	8577577	-	ENSG00000142347.16	protein_coding	-	19p13.2	myosin IF	Biased expression in bone marrow (RPKM 41.2), spleen (RPKM 33.9) and 13 other tissues
MYO1G	chr7	44962662	44979098	-	ENSG00000136286.14	protein_coding	HA2|HLA-HA2|MHAG	7p13	myosin IG	MYO1G is a plasma membrane-associated class I myosin (see MIM 601478) that is abundant in T and B lymphocytes and mast cells (Pierce et al., 2001 [PubMed 11544309]; Patino-Lopez et al., 2010 [PubMed 20071333]).[supplied by OMIM, Jun 2010]
MYO1H	chr12	109347903	109455523	+	ENSG00000174527.9	protein_coding	CCHS2	12q24.11	myosin IH	Low expression observed in reference dataset
MYO3B	chr2	170178145	170655171	+	ENSG00000071909.18	protein_coding	-	2q31.1	myosin IIIB	Biased expression in kidney (RPKM 2.4), urinary bladder (RPKM 2.3) and 4 other tissues
MYO5A	chr15	52307283	52529050	-	ENSG00000197535.14	protein_coding	GS1|MYH12|MYO5|MYR12	15q21.2	myosin VA	This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1), Griscelli syndrome type-3 (GS3) and neuroectodermal melanolysosomal disease, or Elejalde disease. Multiple alternatively spliced transcript variants encoding different isoforms have been reported, but the full-length nature of some variants has not been determined. [provided by RefSeq, Dec 2008]
MYO5B	chr18	49822813	50195093	-	ENSG00000167306.19	protein_coding	DIAR2|MVID1	18q21.1	myosin VB	The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]
MYO5C	chr15	52192322	52295798	-	ENSG00000128833.12	protein_coding	-	15q21.2	myosin VC	-
MYO6	chr6	75749192	75919537	+	ENSG00000196586.13	protein_coding	DFNA22|DFNB37	6q14.1	myosin VI	This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
MYO7A	chr11	77128264	77215239	+	ENSG00000137474.19	protein_coding	DFNA11|DFNB2|MYOVIIA|MYU7A|NSRD2|USH1B	11q13.5	myosin VIIA	This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
MYO7B	chr2	127535802	127637729	+	ENSG00000169994.18	protein_coding	-	2q14.3	myosin VIIB	Biased expression in duodenum (RPKM 42.9), small intestine (RPKM 30.6) and 5 other tissues
MYO9A	chr15	71822289	72118577	-	ENSG00000066933.15	protein_coding	CMS24	15q23	myosin IXA	This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011]
MYO9B	chr19	17075781	17214537	+	ENSG00000099331.13	protein_coding	CELIAC4|MYR5	19p13.11	myosin IXB	This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
MYOC	chr1	171635417	171652683	-	ENSG00000034971.16	protein_coding	GLC1A|GPOA|JOAG|JOAG1|TIGR	1q24.3	myocilin	MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. [provided by RefSeq, Jul 2008]
MYOD1	chr11	17719568	17722131	+	ENSG00000129152.3	protein_coding	MYF3|MYOD|MYODRIF|PUM|bHLHc1	11p15.1	myogenic differentiation 1	This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing cell cycle arrest, a prerequisite for myogenic initiation. The protein is also involved in muscle regeneration. It activates its own transcription which may stabilize commitment to myogenesis. [provided by RefSeq, Jul 2008]
MYOF	chr10	93306429	93482317	-	ENSG00000138119.16	protein_coding	FER1L3|HAE7	10q23.33	myoferlin	Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]
MYOG	chr1	203083132	203086036	-	ENSG00000122180.4	protein_coding	MYF4|bHLHc3|myf-4	1q32.1	myogenin	Myogenin is a muscle-specific transcription factor that can induce myogenesis in a variety of cell types in tissue culture. It is a member of a large family of proteins related by sequence homology, the helix-loop-helix (HLH) proteins. It is essential for the development of functional skeletal muscle. [provided by RefSeq, Jul 2008]
MYOM1	chr18	3066807	3220108	-	ENSG00000101605.12	protein_coding	SKELEMIN	18p11.31	myomesin 1	The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD (myomesin 1) and 165 kD (myomesin 2). This protein, myomesin 1, like myomesin 2, titin, and other myofibrillar proteins contains structural modules with strong homology to either fibronectin type III (motif I) or immunoglobulin C2 (motif II) domains. Myomesin 1 and myomesin 2 each have a unique N-terminal region followed by 12 modules of motif I or motif II, in the arrangement II-II-I-I-I-I-I-II-II-II-II-II. The two proteins share 50% sequence identity in this repeat-containing region. The head structure formed by these 2 proteins on one end of the titin string extends into the center of the M band. The integrating structure of the sarcomere arises from muscle-specific members of the superfamily of immunoglobulin-like proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
MYORG	chr9	 34366666	34376898	-	ENSG00000164976	protein-coding	IBGC7|KIAA1161|NET37	9p13.3	myogenesis regulating glycosidase (putative)	Broad expression in duodenum (RPKM 7.6), small intestine (RPKM 7.3) and 18 other tissues
MYOT	chr5	137867791	137887851	+	ENSG00000120729.9	protein_coding	LGMD1|LGMD1A|MFM3|TTID|TTOD	5q31.2	myotilin	This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[provided by RefSeq, Oct 2008]
MYOZ1	chr10	73631654	73641757	-	ENSG00000177791.11	protein_coding	CS-2|FATZ|MYOZ	10q22.2	myozenin 1	The protein encoded by this gene is primarily expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012]
MYOZ2	chr4	119135784	119187789	+	ENSG00000172399.5	protein_coding	C4orf5|CMH16|CS-1|FATZ-2	4q26	myozenin 2	The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder. [provided by RefSeq, Aug 2011]
MYOZ3	chr5	150660874	150679365	+	ENSG00000164591.13	protein_coding	CS-3|CS3|FATZ-3|FRP3	5q33.1	myozenin 3	The protein encoded by this gene is specifically expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling. [provided by RefSeq, Apr 2012]
MYPN	chr10	68106117	68212017	+	ENSG00000138347.15	protein_coding	CMD1DD|CMH22|MYOP|NEM11|RCM4	10q21.3	myopalladin	Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
MYPOP	chr19	45890020	45902604	-	ENSG00000176182.5	protein_coding	P42pop	19q13.32	Myb related transcription factor, partner of profilin	Ubiquitous expression in brain (RPKM 2.5), spleen (RPKM 2.4) and 25 other tissues
MYRF	chr11	61752642	61788518	+	ENSG00000124920.13	protein_coding	11orf9|C11orf9|CUGS|MMERV|MRF|Ndt80|pqn-47	11q12.2	myelin regulatory factor	This gene encodes a transcription factor that is required for central nervous system myelination and may regulate oligodendrocyte differentiation. It is thought to act by increasing the expression of genes that effect myelin production but may also directly promote myelin gene expression. Loss of a similar gene in mouse models results in severe demyelination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
MYRF-AS1	chr11	 61754029	61757664	-	ENSG00000124915	ncRNA	DKFZP434K028	11q12.2	MYRF antisense RNA 1	Restricted expression toward testis (RPKM 3.0)
MYRFL	chr12	69825304	69959097	+	ENSG00000166268.10	protein_coding	C12orf15|C12orf28|bcm1377	12q15	myelin regulatory factor like	Biased expression in duodenum (RPKM 4.6), small intestine (RPKM 4.6) and 1 other tissue
MYRIP	chr3	39808914	40260321	+	ENSG00000170011.13	protein_coding	SLAC2-C|SLAC2C	3p22.1	myosin VIIA and Rab interacting protein	Broad expression in brain (RPKM 7.4), spleen (RPKM 4.2) and 23 other tissues
MYSM1	chr1	58654739	58700092	-	ENSG00000162601.9	protein_coding	2A-DUB|2ADUB|BMFS4	1p32.1	Myb like, SWIRM and MPN domains 1	Ubiquitous expression in bone marrow (RPKM 8.9), lymph node (RPKM 7.4) and 25 other tissues
MYT1	chr20	64151791	64242253	+	ENSG00000196132.11	protein_coding	C20orf36|MTF1|MYTI|NZF2|PLPB1|ZC2H2C1|ZC2HC4A	20q13.33	myelin transcription factor 1	The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The protein binds to the promoter regions of proteolipid proteins of the central nervous system and plays a role in the developing nervous system. [provided by RefSeq, Jul 2008]
MYT1L	chr2	1789113	2331260	-	ENSG00000186487.17	protein_coding	MRD39|NZF1|ZC2H2C2|ZC2HC4B|myT1-L	2p25.3	myelin transcription factor 1 like	This gene encodes a member of the zinc finger superfamily of transcription factors whose expression, thus far, has been found only in neuronal tissues. The encoded protein belongs to a novel class of cystein-cystein-histidine-cystein zinc finger proteins that function in the developing mammalian central nervous system. Forced expression of this gene in combination with the basic helix-loop-helix transcription factor NeuroD1 and the transcription factors POU class 3 homeobox 2 and achaete-scute family basic helix-loop-helix transcription factor 1 can convert fetal and postnatal human fibroblasts into induced neuronal cells, which are able to generate action potentials. Mutations in this gene have been associated with an autosomal dominant form of cognitive disability and with autism spectrum disorder. Alternative splicing results in multiple variants. [provided by RefSeq, Jul 2017]
MYZAP	chr15	57591941	57685364	+	ENSG00000263155.5	protein_coding	GCOM1|Gup|MYOZAP	15q21.3	myocardial zonula adherens protein	This gene encodes a protein that is abundantly expressed in cardiac tissue. The encoded protein localizes to intercalated discs in cardiomyocytes and functions as an activator of Rho-dependent serum-response factor signaling. Alternative splicing results in multiple transcript variants. Readthrough transcription also exists between this gene and the neighboring downstream gene POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) and is represented with GeneID: 145781. [provided by RefSeq, Mar 2014]
MZB1	chr5	139387480	139390081	-	ENSG00000170476.15	protein_coding	MEDA-7|PACAP|pERp1	5q31.2	marginal zone B and B1 cell specific protein	Biased expression in lymph node (RPKM 68.4), urinary bladder (RPKM 65.2) and 13 other tissues
MZF1	chr19	58561931	58573575	-	ENSG00000099326.8	protein_coding	MZF-1|MZF1B|ZFP98|ZNF42|ZSCAN6	19q13.43	myeloid zinc finger 1	Ubiquitous expression in spleen (RPKM 4.6), prostate (RPKM 4.2) and 25 other tissues
MZF1-AS1	chr19	58559129	58574797	+	ENSG00000267858.5	antisense	-	19q13.43	MZF1 antisense RNA 1	-
MZT1	chr13	72708357	72727687	-	ENSG00000204899.5	protein_coding	C13orf37|MOZART1	13q21.33	mitotic spindle organizing protein 1	Ubiquitous expression in brain (RPKM 11.3), bone marrow (RPKM 9.3) and 25 other tissues
N4BP1	chr16	48538726	48620148	-	ENSG00000102921.7	protein_coding	-	16q12.1	NEDD4 binding protein 1	-
N4BP2	chr4	40056826	40158252	+	ENSG00000078177.13	protein_coding	B3BP	4p14	NEDD4 binding protein 2	This gene encodes a protein containing a polynucleotide kinase domain (PNK) near the N-terminal region, and a Small MutS Related (Smr) domain near the C-terminal region. The encoded protein can bind to both B-cell leukemia/lymphoma 3 (BCL-3) and neural precursor cell expressed, developmentally downregulated 4, (Nedd4) proteins. This protein binds and hydrolyzes ATP, may function as a 5-polynucleotide kinase, and has the capacity to be a ubiquitylation substrate. This protein may play a role in transcription-coupled DNA repair or genetic recombination. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
N4BP2L1	chr13	32400723	32428311	-	ENSG00000139597.17	protein_coding	CG018	13q13.1	NEDD4 binding protein 2 like 1	Ubiquitous expression in ovary (RPKM 4.2), liver (RPKM 3.8) and 25 other tissues
N4BP2L2	chr13	32432417	32538885	-	ENSG00000244754.8	protein_coding	92M18.3|CG005|CG016|PFAAP5	13q13.1	NEDD4 binding protein 2 like 2	Ubiquitous expression in thyroid (RPKM 5.4), ovary (RPKM 5.3) and 25 other tissues
N4BP2L2-IT2	chr13	32504506	32509395	-	ENSG00000281026.1	sense_intronic	CG030	13q13.1	N4BPL2 intronic transcript 2	-
N6AMT1	chr21	28872191	28885371	-	ENSG00000156239.11	protein_coding	C21orf127|HEMK2|KMT9|MTQ2|N6AMT|PRED28|PrmC|m.HsaHemK2P	21q21.3	N-6 adenine-specific DNA methyltransferase 1	This gene encodes an N(6)-adenine-specific DNA methyltransferase. The encoded enzyme may be involved in the methylation of release factor I during translation termination. This enzyme is also involved in converting the arsenic metabolite monomethylarsonous acid to the less toxic dimethylarsonic acid. Alternative splicing pf this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 11. [provided by RefSeq, Jul 2014]
NAA11	chr4	79225694	79326050	-	ENSG00000156269.4	protein_coding	ARD1B|ARD2|hARD2	4q21.21	N-alpha-acetyltransferase 11, NatA catalytic subunit	Biased expression in testis (RPKM 1.1) and placenta (RPKM 0.8)
NAA16	chr13	41311205	41377030	+	ENSG00000172766.18	protein_coding	NARG1L	13q14.11	N-alpha-acetyltransferase 16, NatA auxiliary subunit	Ubiquitous expression in bone marrow (RPKM 4.0), testis (RPKM 2.5) and 25 other tissues
NAA20	chr20	20017116	20033655	+	ENSG00000173418.11	protein_coding	NAT3|NAT3P|NAT5|NAT5P|dJ1002M8.1	20p11.23	N-alpha-acetyltransferase 20, NatB catalytic subunit	NAT5 is a component of N-acetyltransferase complex B (NatB). Human NatB performs cotranslational N(alpha)-terminal acetylation of methionine residues when they are followed by asparagine (Starheim et al., 2008 [PubMed 18570629]).[supplied by OMIM, Apr 2009]
NAA25	chr12	112026689	112109022	-	ENSG00000111300.9	protein_coding	C12orf30|MDM20|NAP1	12q24.13	N-alpha-acetyltransferase 25, NatB auxiliary subunit	This gene encodes the auxiliary subunit of the heteromeric N-terminal acetyltransferase B complex. This complex acetylates methionine residues that are followed by acidic or asparagine residues.[provided by RefSeq, Mar 2010]
NAA30	chr14	57390544	57415917	+	ENSG00000139977.13	protein_coding	C14orf35|MAK3|Mak3p|NAT12|NAT12P	14q22.3	N-alpha-acetyltransferase 30, NatC catalytic subunit	Ubiquitous expression in testis (RPKM 11.4), brain (RPKM 9.1) and 25 other tissues
NAA35	chr9	85941146	86022298	+	ENSG00000135040.15	protein_coding	EGAP|MAK10|MAK10P|bA379P1.1	9q21.33	N-alpha-acetyltransferase 35, NatC auxiliary subunit	Ubiquitous expression in brain (RPKM 7.0), colon (RPKM 6.9) and 25 other tissues
NAA38	chr17	7856685	7885238	-	ENSG00000183011.13	protein_coding	LSMD1|MAK31|PFAAP2	17p13.1	N-alpha-acetyltransferase 38, NatC auxiliary subunit	Note: The name of this locus was changed from LSMD1 to NAA38 by the HUGO Gene Nomenclature Committee. [23 Jan 2014]
NAA40	chr11	63938959	63957328	+	ENSG00000110583.12	protein_coding	NAT11|NatD|PATT1|hNatD	11q13.1	N-alpha-acetyltransferase 40, NatD catalytic subunit	Enables H2A histone acetyltransferase activity; H4 histone acetyltransferase activity; and peptide-serine-N-acetyltransferase activity. Involved in N-terminal protein amino acid acetylation; histone H2A acetylation; and histone H4 acetylation. Located in centriolar satellite; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
NAA50	chr3	113716460	113746300	-	ENSG00000121579.12	protein_coding	MAK3|NAT13|NAT13P|NAT5|NAT5P|SAN|hNaa50p	3q13.31	N-alpha-acetyltransferase 50, NatE catalytic subunit	Ubiquitous expression in esophagus (RPKM 21.2), fat (RPKM 20.2) and 25 other tissues
NAA60	chr16	3443611	3486963	+	ENSG00000122390.17	protein_coding	HAT4|NAT15|NatF|hNaa60	16p13.3	N-alpha-acetyltransferase 60, NatF catalytic subunit	This gene encodes an enzyme that localizes to the Golgi apparatus, where it transfers an acetyl group to the N-terminus of free proteins. This enzyme acts on histones, and its activity is important for chromatin assembly and chromosome integrity. Alternative splicing and the use of alternative promoters results in multiple transcript variants. The upstream promoter is located in a differentially methylated region (DMR) and undergoes imprinting; transcript variants originating from this position are expressed from the maternal allele. [provided by RefSeq, Nov 2015]
NAAA	chr4	75913657	75941051	-	ENSG00000138744.14	protein_coding	ASAHL|PLT	4q21.1	N-acylethanolamine acid amidase	This gene encodes an N-acylethanolamine-hydrolyzing enzyme which is highly similar to acid ceramidase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
NAALAD2	chr11	90131515	90192894	+	ENSG00000077616.10	protein_coding	GCP3|GCPIII|GPCIII	11q14.3	N-acetylated alpha-linked acidic dipeptidase 2	This gene is a member of the N-acetylated alpha-linked acidic dipeptidase (NAALADase) gene family. The representative member of this family is the gene encoding human prostate-specific membrane antigen (PSM), which is a marker of prostatic carcinomas and is the first to be shown to possess NAALADase activity. NAALADase cleaves N-acetyl-L-aspartate-L-glutamate (NAAG), which is a neuropeptide expressed both in the central nervous systems and in the periphery and is thought to function as a neurotransmitter. The product of this gene is a type II integral membrane protein. Transient transfection of this gene confers both NAALADase and dipetidyl peptidase IV activities to mammalian cells. This gene is highly expressed in ovary and testis as well as within discrete brain areas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
NAALADL1	chr11	65044818	65058549	-	ENSG00000168060.15	protein_coding	HILAP|I100|NAALADASEL	11q13.1	N-acetylated alpha-linked acidic dipeptidase like 1	Biased expression in small intestine (RPKM 38.0), duodenum (RPKM 7.0) and 4 other tissues
NAB1	chr2	190646746	190692766	+	ENSG00000138386.16	protein_coding	-	2q32.2	NGFI-A binding protein 1	-
NAB2	chr12	57088894	57095476	+	ENSG00000166886.12	protein_coding	MADER	12q13.3	NGFI-A binding protein 2	This gene encodes a member of the family of NGFI-A binding (NAB) proteins, which function in the nucleus to repress transcription induced by some members of the EGR (early growth response) family of transactivators. NAB proteins can homo- or hetero-multimerize with other EGR or NAB proteins through a conserved N-terminal domain, and repress transcription through two partially redundant C-terminal domains. Transcriptional repression by the encoded protein is mediated in part by interactions with the nucleosome remodeling and deactylase (NuRD) complex. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
NABP1	chr2	191678068	191696659	+	ENSG00000173559.12	protein_coding	OBFC2A|SOSS-B2|SSB2	2q32.3	nucleic acid binding protein 1	Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2A, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 2008]
NABP2	chr12	56222015	56229854	+	ENSG00000139579.12	protein_coding	OBFC2B|SOSS-B1|SSB1|hSSB1	12q13.3	nucleic acid binding protein 2	Single-stranded DNA (ssDNA)-binding proteins, such as OBFC2B, are ubiquitous and essential for a variety of DNA metabolic processes, including replication, recombination, and detection and repair of damage (Richard et al., 2008 [PubMed 18449195]).[supplied by OMIM, Jun 2008]
NACA	chr12	56712428	56731628	-	ENSG00000196531.10	protein_coding	HSD48|NAC-alpha|NACA1|skNAC	12q13.3	nascent polypeptide associated complex subunit alpha	This gene encodes a protein that associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). This complex binds to nascent proteins that lack a signal peptide motif as they emerge from the ribosome, blocking interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic reticulum. This protein is an IgE autoantigen in atopic dermatitis patients. Alternative splicing results in multiple transcript variants, but the full length nature of some of these variants, including those encoding very large proteins, has not been determined. There are multiple pseudogenes of this gene on different chromosomes. [provided by RefSeq, Feb 2016]
NACA2	chr17	61590426	61591202	-	ENSG00000253506.2	protein_coding	ANAC|NACAL	17q23.2	nascent polypeptide associated complex subunit alpha 2	-
NACAD	chr7	45080438	45088914	-	ENSG00000136274.8	protein_coding	-	7p13	NAC alpha domain containing	-
NACAP8	chr12	93124000	93128532	-	-	pseudogene	NACAP3	12q22	NACA pseudogene 8	-
NACC1	chr19	13118103	13141141	+	ENSG00000160877.5	protein_coding	BEND8|BTBD14B|BTBD30|NAC-1|NAC1|NECFM	19p13.13	nucleus accumbens associated 1	This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded protein is a transcriptional repressor that plays a role in stem cell self-renewal and pluripotency maintenance. The encoded protein also suppresses transcription of the candidate tumor suppressor Gadd45GIP1, and expression of this gene may play a role in the progression of multiple types of cancer. A pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Feb 2012]
NACC2	chr9	136006537	136095285	-	ENSG00000148411.7	protein_coding	BEND9|BTBD14|BTBD14A|BTBD31|NAC-2|RBB	9q34.3	NACC family member 2	Ubiquitous expression in brain (RPKM 17.8), fat (RPKM 7.6) and 24 other tissues
NADK	chr1	1751232	1780457	-	ENSG00000008130.15	protein_coding	dJ283E3.1	1p36.33	NAD kinase	NADK catalyzes the transfer of a phosphate group from ATP to NAD to generate NADP, which in its reduced form acts as an electron donor for biosynthetic reactions (Lerner et al., 2001 [PubMed 11594753]).[supplied by OMIM, Mar 2008]
NADK2	chr5	36192592	36242279	-	ENSG00000152620.12	protein_coding	C5orf33|DECRD|MNADK|NADKD1	5p13.2	NAD kinase 2, mitochondrial	This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
NADSYN1	chr11	71453109	71524107	+	ENSG00000172890.11	protein_coding	VCRL3	11q13.4	NAD synthetase 1	Nicotinamide adenine dinucleotide (NAD) is a coenzyme in metabolic redox reactions, a precursor for several cell signaling molecules, and a substrate for protein posttranslational modifications. NAD synthetase (EC 6.3.5.1) catalyzes the final step in the biosynthesis of NAD from nicotinic acid adenine dinucleotide (NaAD).[supplied by OMIM, Apr 2004]
NAE1	chr16	66802875	66873256	-	ENSG00000159593.14	protein_coding	A-116A10.1|APPBP1|HPP1|ula-1	16q22.1	NEDD8 activating enzyme E1 subunit 1	The protein encoded by this gene binds to the beta-amyloid precursor protein. Beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimers disease. In addition, the encoded protein can form a heterodimer with UBE1C and bind and activate NEDD8, a ubiquitin-like protein. This protein is required for cell cycle progression through the S/M checkpoint. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
NAF1	chr4	163110073	163166921	-	ENSG00000145414.8	protein_coding	-	4q32.2	nuclear assembly factor 1 ribonucleoprotein	-
NAGA	chr22	42058354	42070842	-	ENSG00000198951.11	protein_coding	D22S674|GALB	22q13.2	alpha-N-acetylgalactosaminidase	NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of  Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]
NAGK	chr2	71064344	71079805	+	ENSG00000124357.12	protein_coding	GNK|HSA242910	2p13.3	N-acetylglucosamine kinase	This gene encodes a member of the N-acetylhexosamine kinase family. The encoded protein catalyzes the conversion of N-acetyl-D-glucosamine to N-acetyl-D-glucosamine 6-phosphate, and is the major mammalian enzyme which recovers amino sugars. [provided by RefSeq, Nov 2011]
NAGLU	chr17	42536172	42544449	+	ENSG00000108784.9	protein_coding	CMT2V|MPS-IIIB|MPS3B|NAG|UFHSD	17q21.2	N-acetyl-alpha-glucosaminidase	This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]
NAGPA	chr16	5024844	5034141	-	ENSG00000103174.11	protein_coding	APAA|UCE	16p13.3	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as uncovering enzyme or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. The encoded preproprotein is proteolytically processed by furin to generate the mature enzyme, a homotetramer of two disulfide-linked homodimers. Mutations in this gene are associated with developmental stuttering in human patients. [provided by RefSeq, Oct 2015]
NAGS	chr17	44004546	44009063	+	ENSG00000161653.10	protein_coding	AGAS|ARGA	17q21.31	N-acetylglutamate synthase	The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq, Jul 2008]
NAIF1	chr9	128061233	128068206	-	ENSG00000171169.8	protein_coding	C9orf90|bA379C10.2	9q34.11	nuclear apoptosis inducing factor 1	Ubiquitous expression in testis (RPKM 3.6), spleen (RPKM 2.1) and 25 other tissues
NALCN	chr13	101053776	101416492	-	ENSG00000102452.15	protein_coding	CLIFAHDD|CanIon|IHPRF|IHPRF1|INNFD|VGCNL1|bA430M15.1	13q32.3-q33.1	sodium leak channel, non-selective	This gene encodes a voltage-independent, nonselective cation channel which belongs to a family of voltage-gated sodium and calcium channels that regulates the resting membrane potential and excitability of neurons. This family is expressed throughout the nervous system and conducts a persistent sodium leak current that contributes to tonic neuronal excitability. The encoded protein forms a channelosome complex that includes G-protein-coupled receptors, UNC-79, UNC-80, NCA localization factor-1, and src family tyrosine kinases. Naturally occurring mutations in this gene are associated with infantile neuroaxonal dystrophy, infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) syndrome, and congenital contractures of the limbs and face with hypotonia and developmental delay (CLIFAHDD) syndrome. A knockout of the orthologous gene in mice results in paralysis with a severely disrupted respiratory rhythm, and lethality within 24 hours after birth. [provided by RefSeq, Apr 2017]
NALT1	chr9	136546212	136549893	+	ENSG00000237886.1	antisense	LINC01573|MIR4674HG|NALT|TCONS_l2_00029132	9q34.3	NOTCH1 associated lncRNA in T cell acute lymphoblastic leukemia 1	Ubiquitous expression in prostate (RPKM 2.0), small intestine (RPKM 1.8) and 24 other tissues
NAMA	chr9	99355337	99377240	-	ENSG00000271086.5	lincRNA	-	9q22.33	non-protein coding RNA, associated with MAP kinase pathway and growth arrest	-
NANOGP7	chr14	91604402	91605319	-	ENSG00000258774.1	transcribed_processed_pseudogene	NANOGP3	14q32.12	Nanog homeobox pseudogene 7	-
NANOS1	chr10	119029716	119033732	+	ENSG00000188613.6	protein_coding	EC_Rep1a|NOS-1|NOS1|SPGF12|ZC2HC12A	10q26.11	nanos C2HC-type zinc finger 1	This gene encodes a CCHC-type zinc finger protein that is a member of the nanos family. This protein co-localizes with the RNA-binding protein pumilio RNA-binding family member 2 and may be involved in regulating translation as a post-transcriptional repressor. Mutations in this gene are associated with spermatogenic impairment. [provided by RefSeq, Sep 2015]
NANOS2	chr19	45913214	45914870	-	ENSG00000188425.3	protein_coding	NOS2|ZC2HC12B	19q13.32	nanos C2HC-type zinc finger 2	Predicted to enable mRNA binding activity. Involved in negative regulation of translation and positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay. Located in nucleus and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
NANP	chr20	25612935	25624175	-	ENSG00000170191.4	protein_coding	C20orf147|HDHD4|dJ694B14.3	20p11.21	N-acetylneuraminic acid phosphatase	Ubiquitous expression in adrenal (RPKM 2.0), testis (RPKM 1.9) and 25 other tissues
NANS	chr9	98056739	98083075	+	ENSG00000095380.10	protein_coding	HEL-S-100|SAS|SEMDCG|SEMDG	9q22.33	N-acetylneuraminate synthase	This gene encodes an enzyme that functions in the biosynthetic pathways of sialic acids. In vitro, the encoded protein uses N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN), respectively; however, it exhibits much higher activity toward the Neu5Ac phosphate product. In insect cells, expression of this gene results in Neu5Ac and KDN production. This gene is related to the E. coli sialic acid synthase gene neuB, and it can partially restore sialic acid synthase activity in an E. coli neuB-negative mutant. [provided by RefSeq, Jul 2008]
NAP1L1	chr12	76036587	76085033	-	ENSG00000187109.13	protein_coding	NAP1|NAP1L|NRP	12q21.2	nucleosome assembly protein 1 like 1	This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms; however, not all have been fully described. [provided by RefSeq, Apr 2015]
NAP1L1P1	chr11	126067539	126068601	+	ENSG00000254759.1	processed_pseudogene	-	11q24.2	nucleosome assembly protein 1 like 1 pseudogene 1	-
NAP1L4	chr11	2944431	2992377	-	ENSG00000205531.12	protein_coding	NAP1L4b|NAP2|NAP2L|hNAP2	11p15.4	nucleosome assembly protein 1 like 4	This gene encodes a member of the nucleosome assembly protein (NAP) family which can interact with both core and linker histones. It can shuttle between the cytoplasm and nucleus, suggesting a role as a histone chaperone. This gene is one of several located near the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. [provided by RefSeq, Jul 2008]
NAP1L4P1	chr1	116532936	116534092	-	ENSG00000177173.5	processed_pseudogene	-	1p13.1	nucleosome assembly protein 1 like 4 pseudogene 1	-
NAP1L5	chr4	88695915	88698235	-	ENSG00000177432.6	protein_coding	DRLM	4q22.1|4q21-q22	nucleosome assembly protein 1 like 5	This gene encodes a protein that shares sequence similarity to nucleosome assembly factors, but may be localized to the cytoplasm rather than the nucleus. Expression of this gene is downregulated in hepatocellular carcinomas. This gene is located within a differentially methylated region (DMR) and is imprinted and paternally expressed. There is a related pseudogene on chromosome 4. [provided by RefSeq, Nov 2015]
NAPB	chr20	23374519	23421519	-	ENSG00000125814.17	protein_coding	SNAP-BETA|SNAPB	20p11.21	NSF attachment protein beta	This gene encodes a member of the soluble N-ethyl-maleimide-sensitive fusion attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. This gene encodes the SNAP beta isoform which has been shown to be preferentially expressed in brain tissue. The encoded protein also interacts with the GluR2 &#945;-amino-3-hydroxy-5-methyl-4-isoxazolepropionate (AMPA) receptor subunit C-terminus and may play a role as a chaperone in the molecular processing of the AMPA receptor. [provided by RefSeq, Mar 2017]
NAPEPLD	chr7	103099776	103149560	-	ENSG00000161048.11	protein_coding	C7orf18|FMP30|NAPE-PLD	7q22.1	N-acyl phosphatidylethanolamine phospholipase D	NAPEPLD is a phospholipase D type enzyme that catalyzes the release of N-acylethanolamine (NAE) from N-acyl-phosphatidylethanolamine (NAPE) in the second step of the biosynthesis of N-acylethanolamine (Okamoto et al., 2004 [PubMed 14634025]).[supplied by OMIM, Oct 2008]
NAPRT	chr8	143574785	143578649	-	ENSG00000147813.15	protein_coding	NAPRT1|PP3856	8q24.3	nicotinate phosphoribosyltransferase	Nicotinic acid (NA; niacin) is converted by nicotinic acid phosphoribosyltransferase (NAPRT; EC 2.4.2.11) to NA mononucleotide (NaMN), which is then converted to NA adenine dinucleotide (NaAD), and finally to nicotinamide adenine dinucleotide (NAD), which serves as a coenzyme in cellular redox reactions and is an essential component of a variety of processes in cellular metabolism including response to stress (Hara et al., 2007).[supplied by OMIM, Mar 2008]
NAPSA	chr19	50358477	50365830	-	ENSG00000131400.7	protein_coding	KAP|Kdap|NAP1|NAPA|SNAPA	19q13.33	napsin A aspartic peptidase	This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein is proteolytically processed to generate an activation peptide and the mature protease. The activation peptides of aspartic proteinases function as inhibitors of the protease active site. These peptide segments, or pro-parts, are deemed important for correct folding, targeting, and control of the activation of aspartic proteinase zymogens. The encoded protease may play a role in the proteolytic processing of pulmonary surfactant protein B in the lung and may function in protein catabolism in the renal proximal tubules. This gene has been described as a marker for lung adenocarcinoma and renal cell carcinoma. [provided by RefSeq, Feb 2016]
NAPSB	chr19	50333796	50344767	-	ENSG00000131401.11	transcribed_unprocessed_pseudogene	NAP1L|NAP2|NAPB|NAPSBP	19q13.33	napsin B aspartic peptidase, pseudogene	Biased expression in lymph node (RPKM 71.9), spleen (RPKM 45.6) and 9 other tissues
NARF	chr17	82458180	82490537	+	ENSG00000141562.17	protein_coding	IOP2	17q25.3	nuclear prelamin A recognition factor	Several proteins have been found to be prenylated and methylated at their carboxyl-terminal ends. Prenylation was initially believed to be important only for membrane attachment. However, another role for prenylation appears to be its importance in protein-protein interactions. The only nuclear proteins known to be prenylated in mammalian cells are prelamin A- and B-type lamins. Prelamin A is farnesylated and carboxymethylated on the cysteine residue of a carboxyl-terminal CaaX motif. This post-translationally modified cysteine residue is removed from prelamin A when it is endoproteolytically processed into mature lamin A. The protein encoded by this gene binds to the prenylated prelamin A carboxyl-terminal tail domain. It may be a component of a prelamin A endoprotease complex. The encoded protein is located in the nucleus, where it partially colocalizes with the nuclear lamina. It shares limited sequence similarity with iron-only bacterial hydrogenases. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene, including one with a novel exon that is generated by RNA editing. [provided by RefSeq, Jul 2008]
NARF-IT1	chr17	82482098	82483388	+	ENSG00000266236.1	sense_intronic	NARF-OT1	17q25.3	NARF intronic transcript 1	-
NARS2	chr11	78435961	78574874	-	ENSG00000137513.9	protein_coding	DFNB94|SLM5|asnRS	11q14.1	asparaginyl-tRNA synthetase 2, mitochondrial	This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of asparagine to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24). [provided by RefSeq, Mar 2015]
NASP	chr1	45583846	45618904	+	ENSG00000132780.16	protein_coding	FLB7527|HMDRA1|PRO1999	1p34.1	nuclear autoantigenic sperm protein	This gene encodes a H1 histone binding protein that is involved in transporting histones into the nucleus of dividing cells. Multiple isoforms are encoded by transcript variants of this gene. The somatic form is expressed in all mitotic cells, is localized to the nucleus, and is coupled to the cell cycle. The testicular form is expressed in embryonic tissues, tumor cells, and the testis. In male germ cells, this protein is localized to the cytoplasm of primary spermatocytes, the nucleus of spermatids, and the periacrosomal region of mature spermatozoa. [provided by RefSeq, Jul 2008]
NAT1	chr8	18170477	18223689	+	ENSG00000171428.13	protein_coding	AAC1|MNAT|NAT-1|NATI	8p22	N-acetyltransferase 1	This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabolize drugs and other xenobiotics, and functions in folate catabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
NAT14	chr19	55485004	55487568	+	ENSG00000090971.4	protein_coding	KLP1	19q13.42	N-acetyltransferase 14 (putative)	Ubiquitous expression in brain (RPKM 11.8), kidney (RPKM 6.5) and 23 other tissues
NAT16	chr7	101170493	101180276	-	ENSG00000167011.8	protein_coding	C7orf52	7q22.1	N-acetyltransferase 16 (putative)	Biased expression in thyroid (RPKM 1.2), brain (RPKM 1.0) and 2 other tissues
NAT2	chr8	18391245	18401218	+	ENSG00000156006.4	protein_coding	AAC2|NAT-2|PNAT	8p22	N-acetyltransferase 2	This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in this gene are also associated with higher incidences of cancer and drug toxicity. A second polymorphic arylamine N-acetyltransferase gene (NAT1), is located near this gene (NAT2). [provided by RefSeq, Sep 2019]
NAT8	chr2	73640832	73642393	-	ENSG00000144035.3	protein_coding	ATase2|CCNAT|CML1|GLA|Hcml1|TSC501|TSC510	2p13.1	N-acetyltransferase 8 (putative)	This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The encoded protein shows amino acid sequence similarity to N-acetyltransferases. A similar protein in Xenopus affects cell adhesion and gastrulation movements, and may be localized in the secretory pathway. A highly similar paralog is found in a cluster with this gene. [provided by RefSeq, Sep 2008]
NAT8L	chr4	2059512	2069089	+	ENSG00000185818.7	protein_coding	CML3|NACED|NAT8-LIKE	4p16.3	N-acetyltransferase 8 like	This gene encodes a single-pass membrane protein, which contains a conserved sequence of the GCN5 or NAT superfamily of N-acetyltransferases and is a member of the N-acyltransferase (NAT) superfamily. This protein is a neuron-specific protein and is the N-acetylaspartate (NAA) biosynthetic enzyme, catalyzing the NAA synthesis from L-aspartate and acetyl-CoA. NAA is a major storage and transport form of acetyl coenzyme A specific to the nervous system. The gene mutation results in primary NAA deficiency (hypoacetylaspartia). [provided by RefSeq, Dec 2010]
NAT9	chr17	74770547	74776367	-	ENSG00000109065.11	protein_coding	EBSP, hNATL	17q25.1	N-acetyltransferase 9 (putative)	Ubiquitous expression in adrenal (RPKM 10.4), ovary (RPKM 7.4) and 25 other tissues
NATD1	chr17	21238870	21253410	-	ENSG00000274180.1	protein_coding	C17orf103|Gtlf3b	17p11.2	N-acetyltransferase domain containing 1	Ubiquitous expression in fat (RPKM 12.3), bone marrow (RPKM 8.0) and 24 other tissues
NAV1	chr1	201622885	201826969	+	ENSG00000134369.15	protein_coding	POMFIL3|STEERIN1|UNC53H1	1q32.1	neuron navigator 1	This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. The exact function of this gene is not known, but it is thought to play a role in in neuronal development and regeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
NAV3	chr12	77324641	78213008	+	ENSG00000067798.14	protein_coding	POMFIL1|STEERIN3|unc53H3	12q21.2	neuron navigator 3	This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008]
NAXE	chr1	156591762	156594299	+	ENSG00000163382.11	protein_coding	AIBP|APOA1BP|PEBEL|YJEFN1	1q22	NAD(P)HX epimerase	The product of this gene interacts with apolipoprotein A-I (apoA-I), the major apolipoprotein of high-density lipoproteins (HDLs). It is secreted into some bodily fluids, and its synthesis and secretion are stimulated in vitro by incubating cells with apoA-I. The human genome contains related pseudogenes. [provided by RefSeq, Jul 2008]
NBAS	chr2	15166909	15561330	-	ENSG00000151779.12	protein_coding	ILFS2|NAG|SOPH	2p24.3	NBAS subunit of NRZ tethering complex	This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]
NBAT1	chr6	22134957	22147193	-	ENSG00000260455.1	lincRNA	CASC14|NBAT-1	6p22.3	neuroblastoma associated transcript 1	Low expression observed in reference dataset
NBEA	chr13	34942287	35673022	+	ENSG00000172915.18	protein_coding	BCL8B|LYST2|NEDEGE	13q13.3	neurobeachin	This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011]
NBEAL1	chr2	203014879	203226378	+	ENSG00000144426.18	protein_coding	A530083I02Rik|ALS2CR16|ALS2CR17	2q33.2	neurobeachin like 1	Ubiquitous expression in ovary (RPKM 12.9), colon (RPKM 8.5) and 25 other tissues
NBEAL2	chr3	46979683	47009703	+	ENSG00000160796.16	protein_coding	BDPLT4|GPS	3p21.31	neurobeachin like 2	The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011]
NBL1	chr1	19640554	19658456	+	ENSG00000158747.13	protein_coding	D1S1733E|DAN|DAND1|NB|NO3	1p36.13	NBL1, DAN family BMP antagonist	This gene product is the founding member of the evolutionarily conserved CAN (Cerberus and DAN) family of proteins, which contain a domain resembling the CTCK (C-terminal cystine knot-like) motif found in a number of signaling molecules. These proteins are secreted, and act as BMP (bone morphogenetic protein) antagonists by binding to BMPs and preventing them from interacting with their receptors. They may thus play an important role during growth and development. Alternatively spliced transcript variants have been identified for this gene. Read-through transcripts between this locus and the upstream mitochondrial inner membrane organizing system 1 gene (GeneID 440574) have been observed. [provided by RefSeq, May 2013]
NBN	chr8	89933336	90003228	-	ENSG00000104320.13	protein_coding	AT-V1|AT-V2|ATV|NBS|NBS1|P95	8q21.3	nibrin	Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
NBPF1	chr1	16562319	16613562	-	ENSG00000219481.10	protein_coding	AB13|AB14|AB23|AD2|NBG|NBPF	1p36.13	NBPF member 1	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013]
NBPF10	chr1	146064699	146144804	-	ENSG00000271425.7	protein_coding	AB6|AG1|NBPF9	1q21.1	NBPF member 10	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
NBPF12	chr1	146938744	146996202	+	ENSG00000268043.7	protein_coding	COAS1|KIAA1245	1q21.1	NBPF member 12	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013]
NBPF13P	chr1	147019656	147056593	-	ENSG00000227242.4	unprocessed_pseudogene	-	1q21.1	NBPF member 13, pseudogene	-
NBPF14	chr1	148531385	148679751	-	ENSG00000270629.5	protein_coding	DJ328E19.C1.1|NBPF	1q21.2	NBPF member 14	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013]
NBPF19	chr1	149390623	149556361	+	ENSG00000271383.6	protein_coding	-	1q21.2	NBPF member 19	Ubiquitous expression in skin (RPKM 25.0), spleen (RPKM 18.1) and 25 other tissues
NBPF21P	chr3	36616006	36637457	-	ENSG00000231382.1	unprocessed_pseudogene	-	3p22.2	NBPF member 21, pseudogene	-
NBPF26	chr1	120723923	120841481	+	ENSG00000273136.6	protein_coding	-	1p11.2	NBPF member 26	Ubiquitous expression in skin (RPKM 21.7), appendix (RPKM 16.7) and 25 other tissues
NBPF4	chr1	108223341	108244081	-	ENSG00000196427.13	protein_coding	-	1p13.3	NBPF member 4	Biased expression in testis (RPKM 3.9), small intestine (RPKM 0.8) and 2 other tissues
NBPF6	chr1	108450282	108471002	+	ENSG00000186086.18	protein_coding	-	1p13.3	NBPF member 6	Biased expression in testis (RPKM 2.4), small intestine (RPKM 0.7) and 2 other tissues
NBPF8	chr1	120436353	120467739	+	ENSG00000270231.3	unprocessed_pseudogene	NBPF8P	1p11.2	NBPF member 8	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013]
NBPF9	chr1	149054027	149103561	-	ENSG00000269713.7	protein_coding	AE01	1q21.2	NBPF member 9	This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Apr 2013]
NBR1	chr17	43170481	43211689	+	ENSG00000188554.13	protein_coding	1A1-3B|IAI3B|M17S2|MIG19	17q21.31	NBR1 autophagy cargo receptor	The protein encoded by this gene was originally identified as an ovarian tumor antigen monitored in ovarian cancer. The encoded protein contains a B-box/coiled-coil motif, which is present in many genes with transformation potential. It functions as a specific autophagy receptor for the selective autophagic degradation of peroxisomes by forming intracellular inclusions with ubiquitylated autophagic substrates. This gene is located on a region of chromosome 17q21.1 that is in close proximity to the BRCA1 tumor suppressor gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]
NBR2	chr17	43125610	43153671	+	ENSG00000198496.10	transcribed_unprocessed_pseudogene	NCRNA00192	17q21.31	neighbor of BRCA1 lncRNA 2	This gene was identified by its close proximity on chromosome 17 to tumor suppressor gene BRCA1. Experimental evidence indicates that the two genes share a bi-directional promoter. Transcription for either gene is controlled individually by distinct transcriptional repressor factors. A short (112 amino acid) open reading frame is observed which includes a region derived from a LINE1 element. A strong Kozak signal is not observed for the putative ORF and the stop codon is more than 55 nucleotides upstream of the last splice site for the transcript, suggesting that the transcript is subject to nonsense-mediated decay. Therefore, this gene does not appear to encode a protein. Glucose starvation induces the expression of this gene and the long non-coding RNA transcribed by it functions with AMP-activated protein kinase in mediating the energy stress response. [provided by RefSeq, Aug 2016]
NCALD	chr8	101686543	102124907	-	ENSG00000104490.17	protein_coding	-	8q22.3	neurocalcin delta	Broad expression in brain (RPKM 22.6), salivary gland (RPKM 11.3) and 20 other tissues
NCAM1	chr11	112961247	113278436	+	ENSG00000149294.16	protein_coding	CD56|MSK39|NCAM	11q23.2	neural cell adhesion molecule 1	This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein plays a role in the development of the nervous system by regulating neurogenesis, neurite outgrowth, and cell migration. This protein is also involved in the expansion of T lymphocytes, B lymphocytes and natural killer (NK) cells which play an important role in immune surveillance. This protein plays a role in signal transduction by interacting with fibroblast growth factor receptors, N-cadherin and other components of the extracellular matrix and by triggering signalling cascades involving FYN-focal adhesion kinase (FAK), mitogen-activated protein kinase (MAPK), and phosphatidylinositol 3-kinase (PI3K). One prominent isoform of this gene, cell surface molecule CD56, plays a role in several myeloproliferative disorders such as acute myeloid leukemia and differential expression of this gene is associated with differential disease progression. For example, increased expression of CD56 is correlated with lower survival in acute myeloid leukemia patients whereas increased severity of COVID-19 is correlated with decreased abundance of CD56-expressing NK cells in peripheral blood. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Aug 2020]
NCAN	chr19	19211973	19252233	+	ENSG00000130287.13	protein_coding	CSPG3	19p13.11	neurocan	Neurocan is a chondroitin sulfate proteoglycan thought to be involved in the modulation of cell adhesion and migration.[supplied by OMIM, Jul 2002]
NCAPD2	chr12	6493356	6531955	+	ENSG00000010292.12	protein_coding	CAP-D2|CNAP1|MCPH21|hCAP-D2	12p13.31	non-SMC condensin I complex subunit D2	Ubiquitous expression in lymph node (RPKM 20.3), bone marrow (RPKM 14.5) and 24 other tissues
NCAPD3	chr11	134150119	134225454	-	ENSG00000151503.12	protein_coding	CAP-D3|CAPD3|MCPH22|hCAP-D3|hHCP-6|hcp-6	11q25	non-SMC condensin II complex subunit D3	Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 (MIM 605576) and SMC4 (MIM 605575), but they contain different sets of non-SMC subunits. NCAPD3 is 1 of 3 non-SMC subunits that define condensin II (Ono et al., 2003 [PubMed 14532007]).[supplied by OMIM, Mar 2008]
NCAPG	chr4	17810902	17844862	+	ENSG00000109805.9	protein_coding	CAPG|CHCG|NY-MEL-3|YCG1	4p15.31	non-SMC condensin I complex subunit G	This gene encodes a subunit of the condensin complex, which is responsible for the condensation and stabilization of chromosomes during mitosis and meiosis. Phosphorylation of the encoded protein activates the condensin complex. There are pseudogenes for this gene on chromosomes 8 and 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
NCAPG2	chr7	158631311	158704829	-	ENSG00000146918.19	protein_coding	3KS|CAP-G2|CAPG2|LUZP5|MTB|hCAP-G2	7q36.3	non-SMC condensin II complex subunit G2	This gene encodes a protein that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
NCAPH2	chr22	50508216	50523472	+	ENSG00000025770.18	protein_coding	CAPH2	22q13.33	non-SMC condensin II complex subunit H2	This gene encodes one of the non-SMC subunits of the condensin II complex. This complex plays an essential role in mitotic chromosome assembly. Alternate splicing of this gene results in multiple transcript variants.[provided by RefSeq, May 2010]
NCBP1	chr9	97633626	97673748	+	ENSG00000136937.12	protein_coding	CBP80|NCBP|Sto1	9q22.33	nuclear cap binding protein subunit 1	The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5 cap of nascent pre-mRNA in the nucleoplasm. The encoded protein promotes high-affinity mRNA-cap binding and associates with the CTD of RNA polymerase II. The CBC promotes pre-mRNA splicing, 3-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. [provided by RefSeq, Jul 2008]
NCBP3	chr17	3802165	3846251	-	ENSG00000074356.16	protein_coding	C17orf85|ELG|HSA277841	17p13.2	nuclear cap binding subunit 3	Ubiquitous expression in bone marrow (RPKM 6.9), placenta (RPKM 6.6) and 25 other tissues
NCDN	chr1	35557473	35567274	+	ENSG00000020129.15	protein_coding	NEDIES	1p34.3	neurochondrin	This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates Ca/calmodulin-dependent protein kinase II phosphorylation and may be essential for spatial learning processes. Several alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2008]
NCEH1	chr3	172630249	172711218	-	ENSG00000144959.9	protein_coding	AADACL1|NCEH	3q26.31	neutral cholesterol ester hydrolase 1	Ubiquitous expression in brain (RPKM 15.5), adrenal (RPKM 10.5) and 23 other tissues
NCF1	chr7	74773962	74789315	+	ENSG00000158517.13	protein_coding	CGD1|NCF1A|NOXO2|SH3PXD1A|p47phox	7q11.23	neutrophil cytosolic factor 1	The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gene have been associated with chronic granulomatous disease. [provided by RefSeq, Jul 2008]
NCF1B	chr7	73220624	73235945	+	ENSG00000182487.12	transcribed_unprocessed_pseudogene	NCF-1B|SH3PXD1B	7q11.23	neutrophil cytosolic factor 1B pseudogene	Biased expression in bone marrow (RPKM 76.4), spleen (RPKM 37.7) and 9 other tissues
NCF1C	chr7	75156639	75172044	-	ENSG00000165178.9	unprocessed_pseudogene	SH3PXD1C	7q11.23	neutrophil cytosolic factor 1C pseudogene	The neutrophil cytosolic factor 1 (NCF1) gene encodes the 47 kDa cytosolic subunit of neutrophil NADPH oxidase, which produces superoxide anion. The NCF1 gene is located in close proximity to two highly similar, multi-exon pseudogenes at chromosome 7q11.23, corresponding to this gene record and GeneID:654816. The two pseudogenes contain a dinucleotide deletion (delta-GT) in exon 2 that results in a frameshift and truncation of the open reading frame, and neither pseudogene is likely to express a protein. Recombination events between the pseudogenes and the functional NCF1 gene can inactivate the NCF1 gene and result in chronic granulomatous disease. [provided by RefSeq, Nov 2009]
NCF2	chr1	183555563	183590876	-	ENSG00000116701.14	protein_coding	NCF-2|NOXA2|P67-PHOX|P67PHOX	1q25.3	neutrophil cytosolic factor 2	This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]
NCF4	chr22	36860988	36878015	+	ENSG00000100365.14	protein_coding	CGD3|NCF|P40PHOX|SH3PXD4	22q12.3	neutrophil cytosolic factor 4	The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is preferentially expressed in cells of myeloid lineage. It interacts primarily with neutrophil cytosolic factor 2 (NCF2/p67-phox) to form a complex with neutrophil cytosolic factor 1 (NCF1/p47-phox), which further interacts with the small G protein RAC1 and translocates to the membrane upon cell stimulation. This complex then activates flavocytochrome b, the membrane-integrated catalytic core of the enzyme system. The PX domain of this protein can bind phospholipid products of the PI(3) kinase, which suggests its role in PI(3) kinase-mediated signaling events. The phosphorylation of this protein was found to negatively regulate the enzyme activity. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
NCK1	chr3	136862208	136949823	+	ENSG00000158092.6	protein_coding	NCK|NCKalpha|nck-1	3q22.3	NCK adaptor protein 1	The protein encoded by this gene is one of the signaling and transforming proteins containing Src homology 2 and 3 (SH2 and SH3) domains. It is located in the cytoplasm and is an adaptor protein involved in transducing signals from receptor tyrosine kinases to downstream signal recipients such as RAS. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Jun 2010]
NCK1-DT	chr3	 136841976	136862063	-	-	ncRNA	NCK1-AS1|SLC35G2-AS1	3q22.3	NCK1 divergent transcript	-
NCKAP1	chr2	182909115	183038858	-	ENSG00000061676.14	protein_coding	HEM2|NAP1|NAP125|p125Nap1	2q32.1	NCK associated protein 1	Ubiquitous expression in thyroid (RPKM 62.7), brain (RPKM 61.6) and 24 other tissues
NCKAP1L	chr12	54497711	54548238	+	ENSG00000123338.12	protein_coding	HEM1|IMD72	12q13.13-q13.2	NCK associated protein 1 like	This gene encodes a member of the HEM family of tissue-specific transmembrane proteins which are highly conserved from invertebrates through mammals. This gene is only expressed in hematopoietic cells. The encoded protein is a part of the Scar/WAVE complex which plays an important role in regulating cell shape in both metazoans and plants. Alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, May 2010]
NCKAP5	chr2	132671799	133568463	-	ENSG00000176771.16	protein_coding	ERIH1|ERIH2|NAP5	2q21.2	NCK associated protein 5	Predicted to be involved in microtubule bundle formation and microtubule depolymerization. Predicted to be active in microtubule plus-end. [provided by Alliance of Genome Resources, Apr 2022]
NCKAP5L	chr12	49791146	49828750	-	ENSG00000167566.16	protein_coding	Cep169|FP1193|KIAA1602	12q13.12	NCK associated protein 5 like	Ubiquitous expression in placenta (RPKM 5.5), testis (RPKM 5.4) and 25 other tissues
NCKIPSD	chr3	48673844	48686364	-	ENSG00000213672.7	protein_coding	AF3P21|DIP|DIP1|ORF1|SPIN90|VIP54|WASLBP|WISH	3p21.31	NCK interacting protein with SH3 domain	The protein encoded by this gene contains a nuclear localization signal. It plays a role in signal transduction, and may function in the maintenance of sarcomeres and in the assembly of myofibrils into sarcomeres. It also plays an important role in stress fiber formation This protein is involved in the formation and maintenance of dendritic spines, and modulates synaptic activity in neurons. The gene is involved in therapy-related leukemia by a chromosomal translocation t(3;11)(p21;q23) that involves this gene and the myeloid/lymphoid leukemia gene. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Aug 2019]
NCL	chr2	231453531	231483641	-	ENSG00000115053.15	protein_coding	C23|Nsr1	2q37.1	nucleolin	Nucleolin (NCL), a eukaryotic nucleolar phosphoprotein, is involved in the synthesis and maturation of ribosomes. It is located mainly in dense fibrillar regions of the nucleolus. Human NCL gene consists of 14 exons with 13 introns and spans approximately 11kb. The intron 11 of the NCL gene encodes a small nucleolar RNA, termed U20. [provided by RefSeq, Jul 2008]
NCLN	chr19	3185563	3209575	+	ENSG00000125912.10	protein_coding	NET59	19p13.3	nicalin	Ubiquitous expression in colon (RPKM 14.1), duodenum (RPKM 12.9) and 25 other tissues
NCMAP	chr1	24556111	24609328	+	ENSG00000184454.6	protein_coding	C1orf130|MP11	1p36.11	non-compact myelin associated protein	Biased expression in gall bladder (RPKM 3.2), thyroid (RPKM 2.0) and 12 other tissues
NCOA1	chr2	24491914	24770702	+	ENSG00000084676.15	protein_coding	F-SRC-1|KAT13A|RIP160|SRC1|bHLHe42|bHLHe74	2p23.3	nuclear receptor coactivator 1	The protein encoded by this gene acts as a transcriptional coactivator for steroid and nuclear hormone receptors. It is a member of the p160/steroid receptor coactivator (SRC) family and like other family members has histone acetyltransferase activity and contains a nuclear localization signal, as well as bHLH and PAS domains. The product of this gene binds nuclear receptors directly and stimulates the transcriptional activities in a hormone-dependent fashion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
NCOA2	chr8	70109762	70403805	-	ENSG00000140396.12	protein_coding	GRIP1|KAT13C|NCoA-2|SRC2|TIF2|bHLHe75	8q13.3	nuclear receptor coactivator 2	The protein encoded by this gene functions as a transcriptional coactivator for nuclear hormone receptors, including steroid, thyroid, retinoid, and vitamin D receptors. The encoded protein acts as an intermediary factor for the ligand-dependent activity of these nuclear receptors, which regulate their target genes upon binding of cognate response elements. This gene has been found to be involved in translocations that result in fusions with other genes in various cancers, including the lysine acetyltransferase 6A (KAT6A) gene in acute myeloid leukemia, the ETS variant 6 (ETV6) gene in acute lymphoblastic leukemia, and the hes related family bHLH transcription factor with YRPW motif 1 (HEY1) gene in mesenchymal chondrosarcoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
NCOA3	chr20	47501902	47656877	+	ENSG00000124151.18	protein_coding	ACTR|AIB-1|AIB1|CAGH16|CTG26|KAT13B|RAC3|SRC-3|SRC3|TNRC14|TNRC16|TRAM-1|bHLHe42|pCIP	20q13.12	nuclear receptor coactivator 3	The protein encoded by this gene is a nuclear receptor coactivator that interacts with nuclear hormone receptors to enhance their transcriptional activator functions. The encoded protein has histone acetyltransferase activity and recruits p300/CBP-associated factor and CREB binding protein as part of a multisubunit coactivation complex. This protein is initially found in the cytoplasm but is translocated into the nucleus upon phosphorylation. Several transcript variants encoding different isoforms have been found for this gene. In addition, a polymorphic repeat region is found in the C-terminus of the encoded protein. [provided by RefSeq, Mar 2010]
NCOA4	chr10	46005088	46030714	-	ENSG00000266412.5	protein_coding	ARA70|ELE1|PTC3|RFG	10q11.22	nuclear receptor coactivator 4	This gene encodes an androgen receptor coactivator. The encoded protein interacts with the androgen receptor in a ligand-dependent manner to enhance its transcriptional activity. Chromosomal translocations between this gene and the ret tyrosine kinase gene, also located on chromosome 10, have been associated with papillary thyroid carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes are present on chromosomes 4, 5, 10, and 14. [provided by RefSeq, Feb 2009]
NCOA5	chr20	46060985	46089952	-	ENSG00000124160.11	protein_coding	CIA|bA465L10.6	20q13.12	nuclear receptor coactivator 5	This gene encodes a coregulator for the alpha and beta estrogen receptors and the orphan nuclear receptor NR1D2. The protein localizes to the nucleus, and is thought to have both coactivator and corepressor functions. Its interaction with nuclear receptors is independent of the AF2 domain on the receptors, which is known to regulate interaction with other coreceptors. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2017]
NCOA6	chr20	34689097	34825649	-	ENSG00000198646.13	protein_coding	AIB3|ASC2|NRC|PRIP|RAP250|TRBP	20q11.22	nuclear receptor coactivator 6	The protein encoded by this gene is a transcriptional coactivator that can interact with nuclear hormone receptors to enhance their transcriptional activator functions. This protein has been shown to be involved in the hormone-dependent coactivation of several receptors, including prostanoid, retinoid, vitamin D3, thyroid hormone, and steroid receptors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]
NCOA7	chr6	125781161	125932030	+	ENSG00000111912.19	protein_coding	ERAP140|ESNA1|NCOA7-AS|Nbla00052|Nbla10993|TLDC4|dJ187J11.3	6q22.31-q22.32	nuclear receptor coactivator 7	Ubiquitous expression in urinary bladder (RPKM 17.8), adrenal (RPKM 16.0) and 25 other tissues
NCOR1	chr17	16029157	16218185	-	ENSG00000141027.20	protein_coding	N-CoR|N-CoR1|PPP1R109|TRAC1|hN-CoR	17p12-p11.2	nuclear receptor corepressor 1	This gene encodes a protein that mediates ligand-independent transcription repression of thyroid-hormone and retinoic-acid receptors by promoting chromatin condensation and preventing access of the transcription machinery. It is part of a complex which also includes histone deacetylases and transcriptional regulators similar to the yeast protein Sin3p. This gene is located between the Charcot-Marie-Tooth and Smith-Magenis syndrome critical regions on chromosome 17. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 17 and 20.[provided by RefSeq, Jun 2010]
NCOR2	chr12	124324415	124567589	-	ENSG00000196498.13	protein_coding	CTG26|N-CoR2|SMAP270|SMRT|SMRTE|SMRTE-tau|TNRC14|TRAC|TRAC-1|TRAC1	12q24.31	nuclear receptor corepressor 2	This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain target genes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid receptor-associated co-repressors. This protein acts as part of a multisubunit complex which includes histone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011]
NCR3	chr6	31588895	31592985	-	ENSG00000204475.9	protein_coding	1C7|CD337|LY117|MALS|NKp30	6p21.33	natural cytotoxicity triggering receptor 3	The protein encoded by this gene is a natural cytotoxicity receptor (NCR) that may aid NK cells in the lysis of tumor cells. The encoded protein interacts with CD3-zeta (CD247), a T-cell receptor. A single nucleotide polymorphism in the 5 untranslated region of this gene has been associated with mild malaria suceptibility. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
NCR3LG1	chr11	17351726	17377341	+	ENSG00000188211.8	protein_coding	B7-H6|B7H6|DKFZp686O24166	11p15.1	natural killer cell cytotoxicity receptor 3 ligand 1	B7H6 belongs to the B7 family (see MIM 605402) and is selectively expressed on tumor cells. Interaction of B7H6 with NKp30 (NCR3; MIM 611550) results in natural killer (NK) cell activation and cytotoxicity (Brandt et al., 2009 [PubMed 19528259]).[supplied by OMIM, Jan 2011]
NCS1	chr9	130172578	130237304	+	ENSG00000107130.9	protein_coding	FLUP|FREQ	9q34.11	neuronal calcium sensor 1	This gene is a member of the neuronal calcium sensor gene family, which encode calcium-binding proteins expressed predominantly in neurons. The protein encoded by this gene regulates G protein-coupled receptor phosphorylation in a calcium-dependent manner and can substitute for calmodulin. The protein is associated with secretory granules and modulates synaptic transmission and synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
NCSTN	chr1	160343272	160358952	+	ENSG00000162736.15	protein_coding	ATAG1874	1q23.2	nicastrin	This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimers disease; however, the nature of the encoded proteins role in Alzheimers disease is not known for certain. Mutations in this gene are associated with familial acne inversa. A pseudogene of this gene is present on chromosome 21. Alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Feb 2014]
NDC1	chr1	53765460	53838860	-	ENSG00000058804.11	protein_coding	NET3|TMEM48	1p32.3	NDC1 transmembrane nucleoporin	Ubiquitous expression in lymph node (RPKM 8.4), colon (RPKM 6.8) and 25 other tissues
NDE1	chr16	15643267	15726353	+	ENSG00000072864.14	protein_coding	HOM-TES-87|LIS4|MHAC|NDE|NUDE|NUDE1	16p13.11	nudE neurodevelopment protein 1	This gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that regulates dynein function. This protein plays an essential role in microtubule organization, mitosis and neuronal migration. Mutations in this gene cause lissencephaly 4, a disorder characterized by lissencephaly, severe brain atrophy, microcephaly, and severe cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
NDEL1	chr17	8413131	8490411	+	ENSG00000166579.15	protein_coding	EOPA|MITAP1|NDE1L1|NDE2|NUDEL	17p13.1	nudE neurodevelopment protein 1 like 1	This gene encodes a coiled-coil protein that plays a role in multiple processes including cytoskeletal organization, cell signaling and neuron migration, outgrowth and maintenance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Mar 2012]
NDFIP1	chr5	142108505	142154443	+	ENSG00000131507.10	protein_coding	N4WBP5	5q31.3	Nedd4 family interacting protein 1	The protein encoded by this gene belongs to a small group of evolutionarily conserved proteins with three transmembrane domains. It is a potential target for ubiquitination by the Nedd4 family of proteins. This protein is thought to be part of a family of integral Golgi membrane proteins. [provided by RefSeq, Jul 2008]
NDFIP2	chr13	79481124	79556075	+	ENSG00000102471.13	protein_coding	N4WBP5A	13q31.1	Nedd4 family interacting protein 2	Ubiquitous expression in brain (RPKM 31.7), skin (RPKM 21.9) and 24 other tissues
NDN	chr15	23685400	23687330	-	ENSG00000182636.5	protein_coding	HsT16328|PWCR	15q11.2	necdin, MAGE family member	This intronless gene is located in the Prader-Willi syndrome deletion region. It is an imprinted gene and is expressed exclusively from the paternal allele. Studies in mouse suggest that the protein encoded by this gene may suppress growth in postmitotic neurons. [provided by RefSeq, Jul 2008]
NDNF	chr4	121035613	121073021	-	ENSG00000173376.13	protein_coding	C4orf31|HH25|NORD	4q27	neuron derived neurotrophic factor	Biased expression in lung (RPKM 64.4), placenta (RPKM 31.0) and 9 other tissues
NDOR1	chr9	137205685	137217009	+	ENSG00000188566.13	protein_coding	CIAE1|NR1|bA350O14.9	9q34.3	NADPH dependent diflavin oxidoreductase 1	This gene encodes an NADPH-dependent diflavin reductase that contains both flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) binding domains. The encoded protein catalyzes the transfer of electrons from NADPH through FAD and FMN cofactors to potential redox partners. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
NDRG1	chr8	133237171	133302022	-	ENSG00000104419.14	protein_coding	CAP43|CMT4D|DRG-1|DRG1|GC4|HMSNL|NDR1|NMSL|PROXY1|RIT42|RTP|TARG1|TDD5	8q24.22	N-myc downstream regulated 1	This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. The encoded protein is necessary for p53-mediated caspase activation and apoptosis. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4D, and expression of this gene may be a prognostic indicator for several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
NDRG3	chr20	36651766	36746078	-	ENSG00000101079.20	protein_coding	-	20q11.23	NDRG family member 3	-
NDRG4	chr16	58462846	58513628	+	ENSG00000103034.14	protein_coding	BDM1|SMAP-8|SMAP8	16q21	NDRG family member 4	This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that is required for cell cycle progression and survival in primary astrocytes and may be involved in the regulation of mitogenic signalling in vascular smooth muscles cells. Alternative splicing results in multiple transcripts encoding different isoforms.[provided by RefSeq, Jun 2011]
NDST1	chr5	150485818	150558211	+	ENSG00000070614.14	protein_coding	HSST|MRT46|NST1	5q33.1	N-deacetylase and N-sulfotransferase 1	This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. The encoded protein catalyzes the transfer of sulfate from 3-phosphoadenosine 5-phosphosulfate to nitrogen of glucosamine in heparan sulfate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
NDST2	chr10	73801911	73811798	-	ENSG00000166507.17	protein_coding	HSST2|N-HSST 2|NST2	10q22.2	N-deacetylase and N-sulfotransferase 2	This gene encodes a member of the N-deacetylase/N-sulfotransferase subfamily of the sulfotransferase 1 proteins. The encoded enzyme has dual functions in processing glucosamine and heparin polymers, including N-deacetylation and N-sulfation. The encoded protein may be localized to the Golgi. [provided by RefSeq, Feb 2009]
NDST3	chr4	118033618	118258648	+	ENSG00000164100.8	protein_coding	HSST3	4q26	N-deacetylase and N-sulfotransferase 3	This gene encodes a member of the heparan sulfate/heparin GlcNAc N-deacetylase/ N-sulfotransferase family. The encoded enzyme is a type II transmembrane protein that resides in the Golgi apparatus. This monomeric bifunctional enzyme catalyzes the N-deacetylation and N-sulfation of N-acetylglucosamine residues in heparan sulfate and heparin, which are the initial chemical modifications required for the biosynthesis of the functional oligosaccharide sequences that define the specific ligand binding activities of heparan sulfate and heparin. [provided by RefSeq, Nov 2008]
NDST4	chr4	114827763	115113876	-	ENSG00000138653.9	protein_coding	N-HSST|N-HSST 4|NDST-4|NHSST4	4q26	N-deacetylase and N-sulfotransferase 4	Low expression observed in reference dataset
NDUFA10	chr2	239892450	240025402	-	ENSG00000130414.11	protein_coding	CI-42KD|CI-42k|MC1DN22	2q37.3	NADH:ubiquinone oxidoreductase subunit A10	The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016]
NDUFA11	chr19	5891276	5904006	-	ENSG00000174886.12	protein_coding	B14.7|CI-B14.7|MC1DN14	19p13.3	NADH:ubiquinone oxidoreductase subunit A11	This gene encodes a subunit of the membrane-bound mitochondrial complex I. Complex I is composed of numerous subunits and functions as the NADH-ubiquinol reductase of the mitochondrial electron transport chain. Mutations in this gene are associated with severe mitochondrial complex I deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
NDUFA12	chr12	94897055	95003770	-	ENSG00000184752.12	protein_coding	B17.2|DAP13|MC1DN23	12q22	NADH:ubiquinone oxidoreductase subunit A12	This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
NDUFA13	chr19	19515736	19529054	+	ENSG00000186010.18	protein_coding	B16.6|CDA016|CGI-39|GRIM-19|GRIM19|MC1DN28	19p13.11	NADH:ubiquinone oxidoreductase subunit A13	This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein is required for complex I assembly and electron transfer activity. The protein binds the signal transducers and activators of transcription 3 (STAT3) transcription factor, and can function as a tumor suppressor. The human protein purified from mitochondria migrates at approximately 16 kDa. Transcripts originating from an upstream promoter and capable of expressing a protein with a longer N-terminus have been found, but their biological validity has not been determined. [provided by RefSeq, Oct 2009]
NDUFA2	chr5	140638740	140647785	-	ENSG00000131495.8	protein_coding	B8|CD14|CIB8|MC1DN13	5q31.3	NADH:ubiquinone oxidoreductase subunit A2	The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
NDUFA3	chr19	54102728	54109257	+	ENSG00000170906.15	protein_coding	B9|CI-B9	19q13.42	NADH:ubiquinone oxidoreductase subunit A3	Ubiquitous expression in kidney (RPKM 30.6), fat (RPKM 26.2) and 25 other tissues
NDUFA3P2	chr11	68488609	68488840	-	ENSG00000254856.1	processed_pseudogene	-	11q13.2	NADH:ubiquinone oxidoreductase subunit A3 pseudogene 2	-
NDUFA3P4	chr15	90385814	90386063	+	ENSG00000259262.1	processed_pseudogene	-	15q26.1	NADH:ubiquinone oxidoreductase subunit A3 pseudogene 4	-
NDUFA4	chr7	10931951	10940256	-	ENSG00000189043.9	protein_coding	CI-9k|CI-MLRQ|COXFA4|MC4DN21|MISTR1|MLRQ|MRCAF1	7p21.3	NDUFA4 mitochondrial complex associated	The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]
NDUFA4L2	chr12	57234903	57240715	-	ENSG00000185633.10	protein_coding	COXFA4L2|MISTRH|NUOMS	12q13.3	NDUFA4 mitochondrial complex associated like 2	Broad expression in skin (RPKM 38.4), esophagus (RPKM 35.8) and 15 other tissues
NDUFA5	chr7	123536997	123558255	-	ENSG00000128609.14	protein_coding	B13|CI-13KD-B|CI-13kB|NUFM|UQOR13	7q31.32	NADH:ubiquinone oxidoreductase subunit A5	This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014]
NDUFA5P10	chr1	109810642	109810998	-	ENSG00000224927.2	processed_pseudogene	-	1p13.3	NADH:ubiquinone oxidoreductase subunit A5 pseudogene 10	-
NDUFA6	chr22	42085525	42090955	-	ENSG00000184983.9	protein_coding	B14|CI-B14|LYRM6|MC1DN33|NADHB14	22q13.2	NADH:ubiquinone oxidoreductase subunit A6	This gene encodes a member of the LYR family of proteins that contain a highly conserved tripeptide (LYR) motif near the N-terminus. The encoded protein is an accessory subunit of NADH: ubiquinone oxidorerductase (Complex I), which is the largest enzyme of the mitochondrial membrane respiratory chain. Complex I functions in electron transfer from NADH to the respiratory chain. [provided by RefSeq, Oct 2016]
NDUFA6-DT	chr22	 42090933	42125349	+	ENSG00000237037	ncRNA	NDUFA6-AS1	22q13.2	NDUFA6 divergent transcript	Ubiquitous expression in testis (RPKM 10.4), brain (RPKM 8.5) and 25 other tissues
NDUFA7	chr19	8308768	8321396	-	ENSG00000267855.5	protein_coding	B14.5a|CI-B14.5a	19p13.2	NADH:ubiquinone oxidoreductase subunit A7	This gene encodes a subunit of NADH:ubiquinone oxidoreductase (complex I), which is a multiprotein complex located in the inner mitochondrial membrane. Complex I functions in the transfer of electrons from NADH to the respiratory chain. [provided by RefSeq, Mar 2011]
NDUFA8	chr9	122144058	122159819	-	ENSG00000119421.6	protein_coding	CI-19KD|CI-PGIV|MC1DN37|PGIV	9q33.2	NADH:ubiquinone oxidoreductase subunit A8	The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
NDUFA9	chr12	4649095	4694317	+	ENSG00000139180.10	protein_coding	CC6|CI-39k|CI39k|COQ11|MC1DN26|NDUFS2L|SDR22E1	12p13.32	NADH:ubiquinone oxidoreductase subunit A9	The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]
NDUFAF1	chr15	41387349	41402519	-	ENSG00000137806.8	protein_coding	CGI-65|CGI65|CIA30|MC1DN11	15q15.1	NADH:ubiquinone oxidoreductase complex assembly factor 1	This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]
NDUFAF2	chr5	60945129	61153037	+	ENSG00000164182.10	protein_coding	B17.2L|MC1DN10|MMTN|NDUFA12L|mimitin	5q12.1	NADH:ubiquinone oxidoreductase complex assembly factor 2	NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]
NDUFAF3	chr3	49020459	49023495	+	ENSG00000178057.14	protein_coding	2P1|C3orf60|E3-3|MC1DN18	3p21.31	NADH:ubiquinone oxidoreductase complex assembly factor 3	This gene encodes a mitochondrial complex I assembly protein that interacts with complex I subunits. Mutations in this gene cause mitochondrial complex I deficiency, a fatal neonatal disorder of the oxidative phosphorylation system. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2009]
NDUFAF4	chr6	96889313	96897881	-	ENSG00000123545.5	protein_coding	C6orf66|HRPAP20|HSPC125|MC1DN15|My013|bA22L21.1	6q16.1	NADH:ubiquinone oxidoreductase complex assembly factor 4	NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]
NDUFAF5	chr20	13784950	13821582	+	ENSG00000101247.17	protein_coding	C20orf7|MC1DN16|bA526K24.2|dJ842G6.1	20p12.1	NADH:ubiquinone oxidoreductase complex assembly factor 5	The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
NDUFAF6	chr8	94895767	95116455	+	ENSG00000156170.12	protein_coding	C8orf38|FRTS5|MC1DN17	8q22.1	NADH:ubiquinone oxidoreductase complex assembly factor 6	This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]
NDUFAF7	chr2	37231631	37253403	+	ENSG00000003509.15	protein_coding	C2orf56|MidA|PRO1853	2p22.2	NADH:ubiquinone oxidoreductase complex assembly factor 7	This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
NDUFAF8	chr17	81239239	81241281	+	ENSG00000224877.3	protein_coding	C17orf89|MC1DN34	17q25.3	NADH:ubiquinone oxidoreductase complex assembly factor 8	Ubiquitous expression in fat (RPKM 16.9), kidney (RPKM 16.4) and 25 other tissues
NDUFB1	chr14	92116122	92121917	-	ENSG00000183648.9	protein_coding	CI-MNLL|CI-SGDH|MNLL	14q32.12	NADH:ubiquinone oxidoreductase subunit B1	Ubiquitous expression in kidney (RPKM 82.0), colon (RPKM 69.9) and 25 other tissues
NDUFB10	chr16	1959508	1961975	+	ENSG00000140990.14	protein_coding	MC1DN35|PDSW	16p13.3	NADH:ubiquinone oxidoreductase subunit B10	Ubiquitous expression in heart (RPKM 91.0), kidney (RPKM 64.3) and 25 other tissues
NDUFB2	chr7	140690777	140722790	+	ENSG00000090266.12	protein_coding	AGGG|CI-AGGG	7q34	NADH:ubiquinone oxidoreductase subunit B2	The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays a important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Hydropathy analysis revealed that this subunit and 4 other subunits have an overall hydrophilic pattern, even though they are found within the hydrophobic protein (HP) fraction of complex I. [provided by RefSeq, Jul 2008]
NDUFB2-AS1	chr7	140695336	140697077	-	ENSG00000240889.1	antisense	-	7q34	NDUFB2 antisense RNA 1	-
NDUFB3	chr2	201071433	201085750	+	ENSG00000119013.8	protein_coding	B12|CI-B12|MC1DN25	2q33.1	NADH:ubiquinone oxidoreductase subunit B3	This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012]
NDUFB4	chr3	120596309	120602500	+	ENSG00000065518.7	protein_coding	B15|CI-B15	3q13.33	NADH:ubiquinone oxidoreductase subunit B4	This gene encodes a non-catalytic subunit of the multisubunit NADH:ubiquinone oxidoreductase, the first enzyme complex in the mitochondrial electron transport chain (complex I). Mammalian complex I is composed of 45 different subunits and transfers electrons from NADH to ubiquinone. [provided by RefSeq, Dec 2009]
NDUFB4P10	chr20	45388347	45388705	-	ENSG00000232880.1	processed_pseudogene	-	20q13.12	NADH:ubiquinone oxidoreductase subunit B4 pseudogene 10	-
NDUFB4P2	chr5	59528861	59529251	+	ENSG00000251306.1	processed_pseudogene	-	5q11.2	NADH:ubiquinone oxidoreductase subunit B4 pseudogene 2	-
NDUFB4P8	chr1	1378666	1379032	+	ENSG00000223663.2	processed_pseudogene	-	1p36.33	NADH:ubiquinone oxidoreductase subunit B4 pseudogene 8	-
NDUFB5	chr3	179604690	179627647	+	ENSG00000136521.12	protein_coding	CISGDH|SGDH	3q26.33	NADH:ubiquinone oxidoreductase subunit B5	The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
NDUFB6	chr9	32552999	32573184	-	ENSG00000165264.10	protein_coding	B17|CI	9p21.1	NADH:ubiquinone oxidoreductase subunit B6	The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jan 2011]
NDUFB7	chr19	14566078	14572062	-	ENSG00000099795.6	protein_coding	B18|CI-B18	19p13.12	NADH:ubiquinone oxidoreductase subunit B7	The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]
NDUFB8	chr10	100523740	100530000	-	ENSG00000166136.15	protein_coding	ASHI|CI-ASHI|MC1DN32	10q24.31	NADH:ubiquinone oxidoreductase subunit B8	Ubiquitous expression in heart (RPKM 90.4), kidney (RPKM 70.2) and 25 other tissues
NDUFB8P2	chr17	59885015	59885552	+	ENSG00000270264.1	processed_pseudogene	-	17q23.1	NADH:ubiquinone oxidoreductase subunit B8 pseudogene 2	-
NDUFC2	chr11	78068304	78080219	-	ENSG00000151366.12	protein_coding	B14.5b|CI-B14.5b|HLC-1|MC1DN36|NADHDH2	11q14.1	NADH:ubiquinone oxidoreductase subunit C2	Ubiquitous expression in thyroid (RPKM 31.9), adrenal (RPKM 29.8) and 25 other tissues
NDUFS1	chr2	206114817	206159603	-	ENSG00000023228.13	protein_coding	CI-75Kd|CI-75k|MC1DN5|PRO1304	2q33.3	NADH:ubiquinone oxidoreductase core subunit S1	The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
NDUFS2	chr1	161197104	161214395	+	ENSG00000158864.12	protein_coding	CI-49|MC1DN6	1q23.3	NADH:ubiquinone oxidoreductase core subunit S2	The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
NDUFS3	chr11	47565336	47584562	+	ENSG00000213619.9	protein_coding	CI-30|MC1DN8	11p11.2	NADH:ubiquinone oxidoreductase core subunit S3	This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]
NDUFS4	chr5	53560633	53683340	+	ENSG00000164258.11	protein_coding	AQDQ|CI-18|CI-18 kDa|CI-AQDQ|MC1DN1	5q11.2	NADH:ubiquinone oxidoreductase subunit S4	This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
NDUFS5	chr1	39026318	39034636	+	ENSG00000168653.10	protein_coding	CI-15k|CI15K	1p34.3	NADH:ubiquinone oxidoreductase subunit S5	This gene is a member of the NADH dehydrogenase (ubiquinone) iron-sulfur protein family. The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 1, 4 and 17. [provided by RefSeq, May 2010]
NDUFS6	chr5	1801400	1816605	+	ENSG00000145494.11	protein_coding	CI-13kA|CI-13kD-A|CI13KDA|MC1DN9	5p15.33	NADH:ubiquinone oxidoreductase subunit S6	This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 2009]
NDUFS8	chr11	68030617	68036644	+	ENSG00000110717.12	protein_coding	CI-23k|CI23KD|MC1DN2|TYKY	11q13.2	NADH:ubiquinone oxidoreductase core subunit S8	This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010]
NDUFV1	chr11	67606852	67612535	+	ENSG00000167792.11	protein_coding	CI-51K|CI51KD|MC1DN4|UQOR1	11q13.2	NADH:ubiquinone oxidoreductase core subunit V1	The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinsons disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
NDUFV1-DT	chr11	 67602880	67606706	-	ENSG00000184224	ncRNA	C11orf72	11q13.2	NDUFV1 divergent transcript	-
NDUFV2	chr18	9102630	9134345	+	ENSG00000178127.12	protein_coding	CI-24k|MC1DN7	18p11.22	NADH:ubiquinone oxidoreductase core subunit V2	The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinsons disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009]
NEAT1	chr11	65422774	65445540	+	ENSG00000245532.7	lincRNA	LINC00084|NCRNA00084|TncRNA|VINC	11q13.1	nuclear paraspeckle assembly transcript 1	This gene produces a long non-coding RNA (lncRNA) transcribed from the multiple endocrine neoplasia locus. This lncRNA is retained in the nucleus where it forms the core structural component of the paraspeckle sub-organelles. It may act as a transcriptional regulator for numerous genes, including some genes involved in cancer progression. [provided by RefSeq, Mar 2015]
NEB	chr2	151485336	151734487	-	ENSG00000183091.19	protein_coding	AMC6|NEB177D|NEM2	2q23.3	nebulin	This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. [provided by RefSeq, Sep 2009]
NEBL	chr10	20779973	21174187	-	ENSG00000078114.18	protein_coding	C10orf113|LASP2|LNEBL|bA165O3.1	10p12.31	nebulette	This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
NECAB1	chr8	90791550	90959408	+	ENSG00000123119.11	protein_coding	EFCBP1|STIP-1	8q21.3	N-terminal EF-hand calcium binding protein 1	Biased expression in brain (RPKM 31.1), testis (RPKM 8.9) and 12 other tissues
NECAB2	chr16	83968632	84002776	+	ENSG00000103154.9	protein_coding	EFCBP2|stip-2	16q23.3	N-terminal EF-hand calcium binding protein 2	The protein encoded by this gene is a neuronal calcium-binding protein that binds to and modulates the function of at least two receptors, adenosine A(2A) receptor and metabotropic glutamate receptor type 5. [provided by RefSeq, Jul 2016]
NECAB3	chr20	33657087	33674463	-	ENSG00000125967.16	protein_coding	APBA2BP|EFCBP3|NIP1|STIP3|SYTIP2|XB51|dJ63M2.4|dJ63M2.5	20q11.22	N-terminal EF-hand calcium binding protein 3	The protein encoded by this gene interacts with the amino-terminal domain of the neuron-specific X11-like protein (X11L), inhibits the association of X11L with amyloid precursor protein through a non-competitive mechanism, and abolishes the suppression of beta-amyloid production by X11L. This protein, together with X11L, may play an important role in the regulatory system of amyloid precursor protein metabolism and beta-amyloid generation. The protein is phosphorylated by NIMA-related expressed kinase 2, and localizes to the Golgi apparatus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
NECAP1	chr12	8076939	8097859	+	ENSG00000089818.17	protein_coding	DEE21|EIEE21	12p13.31	NECAP endocytosis associated 1	This gene encodes a protein containing two characteristic WXXF motifs. The encoded protein localizes to clathrin-coated vesicles, where it binds components of the adapter protein complexes and aids in endocytosis. Loss of function of this gene results in early infantile epileptic encephalopathy-21. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
NECAP2	chr1	16440672	16460078	+	ENSG00000157191.19	protein_coding	-	1p36.13	NECAP endocytosis associated 2	Ubiquitous expression in lymph node (RPKM 34.8), spleen (RPKM 33.6) and 25 other tissues
NECTIN2	chr19	44846175	44889228	+	ENSG00000130202.9	protein_coding	CD112|HVEB|PRR2|PVRL2|PVRR2	19q13.32	nectin cell adhesion molecule 2	This gene encodes a single-pass type I membrane glycoprotein with two Ig-like C2-type domains and an Ig-like V-type domain. This protein is one of the plasma membrane components of adherens junctions. It also serves as an entry for certain mutant strains of herpes simplex virus and pseudorabies virus, and it is involved in cell to cell spreading of these viruses. Variations in this gene have been associated with differences in the severity of multiple sclerosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
NECTIN3	chr3	111070071	111275563	+	ENSG00000177707.10	protein_coding	CD113|CDW113|NECTIN-3|PPR3|PRR3|PVRL3|PVRR3	3q13.13	nectin cell adhesion molecule 3	This gene encodes a member of the nectin family of proteins, which function as adhesion molecules at adherens junctions. This family member interacts with other nectin-like proteins and with afadin, a filamentous actin-binding protein involved in the regulation of directional motility, cell proliferation and survival. This gene plays a role in ocular development involving the ciliary body. Mutations in this gene are believed to result in congenital ocular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
NEDD4	chr15	55826922	55993746	-	ENSG00000069869.15	protein_coding	NEDD4-1|RPF1	15q21.3	NEDD4 E3 ubiquitin protein ligase	This gene is the founding member of the NEDD4 family of HECT ubiquitin ligases that function in the ubiquitin proteasome system of protein degradation. The encoded protein contains an N-terminal calcium and phospholipid binding C2 domain followed by multiple tryptophan-rich WW domains and, a C-terminal HECT ubiquitin ligase catalytic domain. It plays critical role in the regulation of a number of membrane receptors, endocytic machinery components and the tumor suppressor PTEN. [provided by RefSeq, Jul 2016]
NEDD4L	chr18	58044367	58401540	+	ENSG00000049759.17	protein_coding	NEDD4-2|NEDD4.2|PVNH7|RSP5|hNEDD4-2	18q21.31	NEDD4 like E3 ubiquitin protein ligase	This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein mediates the ubiquitination of multiple target substrates and plays a critical role in epithelial sodium transport by regulating the cell surface expression of the epithelial sodium channel, ENaC. Single nucleotide polymorphisms in this gene may be associated with essential hypertension. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
NEDD8	chr14	24216852	24232454	-	ENSG00000129559.12	protein_coding	NEDD-8	14q12	NEDD8 ubiquitin like modifier	Ubiquitous expression in fat (RPKM 81.8), kidney (RPKM 81.6) and 25 other tissues
NEDD9	chr6	11183298	11382348	-	ENSG00000111859.16	protein_coding	CAS-L|CAS2|CASL|CASS2|HEF1	6p24.2	neural precursor cell expressed, developmentally down-regulated 9	The protein encoded by this gene is a member of the CRK-associated substrates family. Members of this family are adhesion docking molecules that mediate protein-protein interactions for signal transduction pathways. This protein is a focal adhesion protein that acts as a scaffold to regulate signaling complexes important in cell attachment, migration and invasion as well as apoptosis and the cell cycle. This protein has also been reported to have a role in cancer metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
NEFH	chr22	29480230	29491390	+	ENSG00000100285.9	protein_coding	CMT2CC|NFH	22q12.2	neurofilament heavy chain	Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]
NEFL	chr8	24950955	24957110	-	ENSG00000277586.2	protein_coding	CMT1F|CMT2E|CMTDIG|NF-L|NF68|NFL|PPP1R110	8p21.2	neurofilament light chain	Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]
NEFM	chr8	24913012	24919098	+	ENSG00000104722.13	protein_coding	NEF3|NF-M|NFM	8p21.2	neurofilament medium chain	Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
NEGR1	chr1	71395940	72282734	-	ENSG00000172260.14	protein_coding	DMML2433|IGLON4|KILON|Ntra	1p31.1	neuronal growth regulator 1	Broad expression in brain (RPKM 13.7), fat (RPKM 5.3) and 18 other tissues
NEIL1	chr15	75346955	75357114	+	ENSG00000140398.13	protein_coding	FPG1|NEI1|hFPG1	15q24.2	nei like DNA glycosylase 1	This gene is a member of the Nei endonuclease VIII-like gene family which encodes DNA glycosylases. The encoded enzyme participates in the DNA repair pathway by initiating base excision repair by removing damaged bases, primarily oxidized pyrimidines. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
NEIL2	chr8	11769639	11787346	+	ENSG00000154328.15	protein_coding	NEH2|NEI2	8p23.1	nei like DNA glycosylase 2	This gene encodes a member of the Fpg/Nei family of DNA glycosylases. These glycosylases initiate the first step in base excision repair by cleaving oxidatively damaged bases and introducing a DNA strand break via their abasic site lyase activity. This enzyme is primarily associated with DNA repair during transcription and acts prefentially on cytosine-derived lesions, particularly 5-hydroxyuracil and 5-hydroxycytosine. It contains an N-terminal catalytic domain, a hinge region, and a C-terminal DNA-binding domain with helix-two-turn-helix and zinc finger motifs. This enzyme interacts with the X-ray cross complementing factor 1 scaffold protein as part of a multi-protein DNA repair complex. A pseudogene of this gene has been identified. [provided by RefSeq, Mar 2017]
NEIL3	chr4	177309836	177362943	+	ENSG00000109674.3	protein_coding	FGP2|FPG2|NEI3|ZGRF3|hFPG2|hNEI3	4q34.3	nei like DNA glycosylase 3	NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226]).[supplied by OMIM, Mar 2008]
NEK1	chr4	169392857	169612629	-	ENSG00000137601.16	protein_coding	ALS24|NY-REN-55|SRPS2|SRPS2A|SRTD6	4q33	NIMA related kinase 1	The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
NEK10	chr3	27110085	27369460	-	ENSG00000163491.16	protein_coding	CILD44	3p24.1	NIMA related kinase 10	Biased expression in testis (RPKM 2.8), brain (RPKM 0.3) and 6 other tissues
NEK11	chr3	131026850	131350465	+	ENSG00000114670.13	protein_coding	-	3q22.1	NIMA related kinase 11	Broad expression in testis (RPKM 4.2), thyroid (RPKM 2.7) and 22 other tissues
NEK3	chr13	52132639	52159861	-	ENSG00000136098.16	protein_coding	HSPK36	13q14.3	NIMA related kinase 3	This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein differs from other NimA family members in that it is not cell cycle regulated and is found primarily in the cytoplasm. The kinase is activated by prolactin stimulation, leading to phosphorylation of VAV2 guanine nucleotide exchange factor, paxillin, and activation of the RAC1 GTPase. Two functional alleles for this gene have been identified in humans. The reference genome assembly (GRCh38) represents a functional allele that is associated with the inclusion of an additional coding exon in protein-coding transcripts, compared to an alternate functional allele that lacks the exon. [provided by RefSeq, Sep 2019]
NEK4	chr3	52708449	52770949	-	ENSG00000114904.12	protein_coding	NRK2|STK2|pp12301	3p21.1	NIMA related kinase 4	The protein encoded by this gene is a serine/threonine protein kinase required for normal entry into replicative senescence. The encoded protein also is involved in cell cycle arrest in response to double-stranded DNA damage. Finally, this protein plays a role in maintaining cilium integrity, and defects in this gene have been associated with ciliopathies. [provided by RefSeq, Jan 2017]
NEK5	chr13	52033611	52129078	-	ENSG00000197168.11	protein_coding	-	13q14.3	NIMA related kinase 5	-
NEK6	chr9	124257606	124353307	+	ENSG00000119408.16	protein_coding	SID6-1512	9q33.3	NIMA related kinase 6	The protein encoded by this gene is a kinase required for progression through the metaphase portion of mitosis. Inhibition of the encoded protein can lead to apoptosis. This protein also can enhance tumorigenesis by suppressing tumor cell senescence. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
NEK7	chr1	198156963	198322420	+	ENSG00000151414.14	protein_coding	-	1q31.3	NIMA related kinase 7	Ubiquitous expression in heart (RPKM 38.5), fat (RPKM 31.8) and 24 other tissues
NEK8	chr17	28725897	28743455	+	ENSG00000160602.13	protein_coding	JCK|NEK12A|NPHP9|RHPD2	17q11.2	NIMA related kinase 8	This gene encodes a member of the serine/threionine protein kinase family related to NIMA (never in mitosis, gene A) of Aspergillus nidulans. The encoded protein may play a role in cell cycle progression from G2 to M phase. Mutations in the related mouse gene are associated with a disease phenotype that closely parallels the juvenile autosomal recessive form of polycystic kidney disease in humans. [provided by RefSeq, Jul 2008]
NEK9	chr14	75079353	75127344	-	ENSG00000119638.12	protein_coding	APUG|LCCS10|NC|NERCC|NERCC1	14q24.3	NIMA related kinase 9	This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein is activated in mitosis and, in turn, activates other family members during mitosis. This protein also mediates cellular processes that are essential for interphase progression. [provided by RefSeq, Jul 2016]
NELFA	chr4	1982714	2041903	-	ENSG00000185049.14	protein_coding	NELF-A|P/OKcl.15|WHSC2	4p16.3	negative elongation factor complex member A	This gene is expressed ubiquitously with higher levels in fetal than in adult tissues. It encodes a protein sharing 93% sequence identity with the mouse protein. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene is mapped to the 165 kb WHS critical region, and may play a role in the phenotype of the WHS or Pitt-Rogers-Danks syndrome. The encoded protein is found to be capable of reacting with HLA-A2-restricted and tumor-specific cytotoxic T lymphocytes, suggesting a target for use in specific immunotherapy for a large number of cancer patients. This protein has also been shown to be a member of the NELF (negative elongation factor) protein complex that participates in the regulation of RNA polymerase II transcription elongation. [provided by RefSeq, Jul 2008]
NELFB	chr9	137255173	137273546	+	ENSG00000188986.6	protein_coding	COBRA1|NELF-B	9q34.3	negative elongation factor complex member B	NELFB is a subunit of negative elongation factor (NELF), which also includes NELFA (WHSC2; MIM 606026), either NELFC or NELFD (TH1L; MIM 605297), and NELFE (RDBP; MIM 154040). NELF acts with DRB sensitivity-inducing factor (DSIF), a heterodimer of SPT4 (SUPT4H1; MIM 603555) and SPT5 (SUPT5H; MIM 602102), to cause transcriptional pausing of RNA polymerase II (see MIM 180660) (Narita et al., 2003 [PubMed 12612062]).[supplied by OMIM, Mar 2008]
NELFCD	chr20	58981208	58995133	+	ENSG00000101158.13	protein_coding	HSPC130|NELF-C|NELF-D|TH1|TH1L	20q13.32	negative elongation factor complex member C/D	The NELF complex of proteins interacts with the DSIF protein complex to repress transcriptional elongation by RNA polymerase II. The protein encoded by this gene is an essential part of the NELF complex. Alternative translation initiation site usage results in the formation of two isoforms with different N-termini. [provided by RefSeq, Jul 2008]
NELFE	chr6	31952087	31959110	-	ENSG00000204356.13	protein_coding	D6S45|NELF-E|RD|RDBP|RDP	6p21.33	negative elongation factor complex member E	The protein encoded by this gene is part of a complex termed negative elongation factor (NELF) which represses RNA polymerase II transcript elongation. This protein bears similarity to nuclear RNA-binding proteins; however, it has not been demonstrated that this protein binds RNA. The protein contains a tract of alternating basic and acidic residues, largely arginine (R) and aspartic acid (D). The gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. [provided by RefSeq, Jul 2008]
NELL2	chr12	44508275	44921848	-	ENSG00000184613.10	protein_coding	NRP2	12q12	neural EGFL like 2	The protein encoded by this gene is a glycoprotein containing several von Willebrand factor C domains and epidermal growth factor (EGF)-like domains. The encoded protein acts as a homotrimer and is found in the cytoplasm. Several variants encoding a few different isoforms exist, and at least one isoform appears to be a secreted protein. Studies in mouse suggest that this protein plays a role in neural cell growth and differentiation as well as in oncogenesis. [provided by RefSeq, Feb 2009]
NEMP1	chr12	57055643	57088063	-	ENSG00000166881.9	protein_coding	TMEM194|TMEM194A	12q13.3	nuclear envelope integral membrane protein 1	Ubiquitous expression in lymph node (RPKM 5.8), testis (RPKM 5.0) and 25 other tissues
NEMP2	chr2	190504342	190534722	-	ENSG00000189362.11	protein_coding	TMEM194B	2q32.2	nuclear envelope integral membrane protein 2	Ubiquitous expression in testis (RPKM 2.0), lymph node (RPKM 1.7) and 25 other tissues
NENF	chr1	212432887	212446379	+	ENSG00000117691.9	protein_coding	CIR2|SCIRP10|SPUF	1q32.3	neudesin neurotrophic factor	This gene encodes a neurotrophic factor that may play a role in neuron differentiation and development. A pseudogene of this gene is found on chromosome 12. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2009]
NEO1	chr15	73051710	73305206	+	ENSG00000067141.16	protein_coding	IGDCC2|NGN|NTN1R2	15q24.1	neogenin 1	This gene encodes a cell surface protein that is a member of the immunoglobulin superfamily. The encoded protein consists of four N-terminal immunoglobulin-like domains, six fibronectin type III domains, a transmembrane domain and a C-terminal internal domain that shares homology with the tumor suppressor candidate gene DCC. This protein may be involved in cell growth and differentiation and in cell-cell adhesion. Defects in this gene are associated with cell proliferation in certain cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
NEPNP	chr6	117633706	117645087	+	ENSG00000218233.1	unitary_pseudogene	NEPN|NPN	6q22.1	nephrocan, pseudogene	Nephrocan is a secreted glycoprotein that acts as an inhibitor of the transforming growth factor-beta signaling pathway. This gene has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, May 2010]
NEPRO	chr3	113002440	113019861	-	ENSG00000163608.14	protein_coding	ANXD3|C3orf17|NET17	3q13.2	nucleolus and neural progenitor protein	Ubiquitous expression in thyroid (RPKM 9.6), lymph node (RPKM 9.2) and 25 other tissues
NES	chr1	156668763	156677397	-	ENSG00000132688.10	protein_coding	Nbla00170	1q23.1	nestin	This gene encodes a member of the intermediate filament protein family and is expressed primarily in nerve cells. [provided by RefSeq, Sep 2011]
NET1	chr10	5412551	5458463	+	ENSG00000173848.18	protein_coding	ARHGEF8|NET1A	10p15.1	neuroepithelial cell transforming 1	This gene is part of the family of Rho guanine nucleotide exchange factors. Members of this family activate Rho proteins by catalyzing the exchange of GDP for GTP. The protein encoded by this gene interacts with RhoA within the cell nucleus and may play a role in repairing DNA damage after ionizing radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
NETO2	chr16	47077703	47143997	-	ENSG00000171208.9	protein_coding	BTCL2|NEOT2	16q12.1	neuropilin and tolloid like 2	This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. A similar gene in rats encodes a protein that modulates glutamate signaling in the brain by regulating kainate receptor function. Expression of this gene may be a biomarker for proliferating infantile hemangiomas. A pseudogene of this gene is located on the long arm of chromosome 8. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
NEU1	chr6	31857659	31862906	-	ENSG00000204386.10	protein_coding	NANH|NEU|SIAL1	6p21.33	neuraminidase 1	The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as protective protein). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]
NEU2	chr2	233032672	233035057	+	ENSG00000115488.3	protein_coding	SIAL2	2q37.1	neuraminidase 2	This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. [provided by RefSeq, Jul 2008]
NEU3	chr11	74988134	75018893	+	ENSG00000162139.9	protein_coding	SIAL3	11q13.4	neuraminidase 3	This gene product belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. It is localized in the plasma membrane, and its activity is specific for gangliosides. It may play a role in modulating the ganglioside content of the lipid bilayer. [provided by RefSeq, Jul 2008]
NEU4	chr2	241808825	241817413	+	ENSG00000204099.11	protein_coding	-	2q37.3	neuraminidase 4	Biased expression in colon (RPKM 9.5), liver (RPKM 4.5) and 5 other tissues
NEURL1	chr10	103493979	103592552	+	ENSG00000107954.10	protein_coding	NEUR1|NEURL|RNF67|bA416N2.1|neu|neu-1	10q24.33	neuralized E3 ubiquitin protein ligase 1	Broad expression in brain (RPKM 4.6), colon (RPKM 2.4) and 15 other tissues
NEURL1B	chr5	172641266	172691540	+	ENSG00000214357.8	protein_coding	NEURL3|RNF67B|hNeur2|neur2	5q35.1	neuralized E3 ubiquitin protein ligase 1B	Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in ubiquitin-dependent endocytosis. Located in actin cytoskeleton and cytosol. [provided by Alliance of Genome Resources, Apr 2022]
NEURL2	chr20	45888625	45891287	-	ENSG00000124257.6	protein_coding	C20orf163|OZZ|OZZ-E3	20q13.12	neuralized E3 ubiquitin protein ligase 2	This gene encodes a protein that is involved in the regulation of myofibril organization. This protein is likely the adaptor component of the E3 ubiquitin ligase complex in striated muscle, and it regulates the ubiquitin-mediated degradation of beta-catenin during myogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013]
NEURL3	chr2	96497643	96508109	-	ENSG00000163121.9	protein_coding	LINCR|RNF132	2q11.2	neuralized E3 ubiquitin protein ligase 3	Predicted to enable ubiquitin protein ligase activity. Predicted to act upstream of or within protein ubiquitination. [provided by Alliance of Genome Resources, Apr 2022]
NEURL4	chr17	7315628	7329393	-	ENSG00000215041.9	protein_coding	-	17p13.1	neuralized E3 ubiquitin protein ligase 4	Ubiquitous expression in brain (RPKM 8.3), testis (RPKM 8.0) and 25 other tissues
NEUROG2	chr4	112513516	112516172	-	ENSG00000178403.3	protein_coding	Atoh4|Math4A|NGN2|bHLHa8|ngn-2	4q25	neurogenin 2	This gene encodes a neural-specific basic helix-loop-helix (bHLH) transcription factor that can specify a neuronal fate on ectodermal cells and is expressed in neural progenitor cells within the developing central and peripheral nervous systems. The protein product of this gene also plays a role in the differentiation and survival of midbrain dopaminergic neurons. [provided by RefSeq, Apr 2012]
NEUROG3	chr10	69571698	69573238	-	ENSG00000122859.4	protein_coding	Atoh5|Math4B|NGN-3|bHLHa7|ngn3	10q22.1	neurogenin 3	The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. The encoded protein likely acts as a heterodimer with another bHLH protein. Defects in this gene are a cause of congenital malabsorptive diarrhea 4 (DIAR4).[provided by RefSeq, May 2010]
NEXN	chr1	77888513	77943895	+	ENSG00000162614.18	protein_coding	CMH20|NELIN	1p31.1	nexilin F-actin binding protein	This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
NEXN-AS1	chr1	77881348	77889539	-	ENSG00000235927.4	antisense	C1orf118	1p31.1	NEXN antisense RNA 1	Biased expression in heart (RPKM 3.8), prostate (RPKM 1.2) and 12 other tissues
NF1	chr17	31094927	31382116	+	ENSG00000196712.17	protein_coding	NFNS|VRNF|WSS	17q11.2	neurofibromin 1	This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]
NF2	chr22	29603556	29698598	+	ENSG00000186575.17	protein_coding	ACN|BANF|SCH|merlin-1	22q12.2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	This gene encodes a protein that is similar to some members of the ERM (ezrin, radixin, moesin) family of proteins that are thought to link cytoskeletal components with proteins in the cell membrane. This gene product has been shown to interact with cell-surface proteins, proteins involved in cytoskeletal dynamics and proteins involved in regulating ion transport. This gene is expressed at high levels during embryonic development; in adults, significant expression is found in Schwann cells, meningeal cells, lens and nerve. Mutations in this gene are associated with neurofibromatosis type II which is characterized by nervous system and skin tumors and ocular abnormalities. Two predominant isoforms and a number of minor isoforms are produced by alternatively spliced transcripts. [provided by RefSeq, Jul 2008]
NFAM1	chr22	42380410	42432395	-	ENSG00000235568.6	protein_coding	CNAIP	22q13.2	NFAT activating protein with ITAM motif 1	The protein encoded by this gene is a type I membrane receptor that activates cytokine gene promoters such as the IL-13 and TNF-alpha promoters. The encoded protein contains an immunoreceptor tyrosine-based activation motif (ITAM) and is thought to regulate the signaling and development of B-cells. [provided by RefSeq, Jul 2008]
NFASC	chr1	204828651	205022822	+	ENSG00000163531.15	protein_coding	NEDCPMD|NF|NRCAML	1q32.1	neurofascin	This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.[provided by RefSeq, May 2009]
NFAT5	chr16	69565094	69704666	+	ENSG00000102908.20	protein_coding	NF-AT5|NFATL1|NFATZ|OREBP|TONEBP	16q22.1	nuclear factor of activated T cells 5	The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
NFATC1	chr18	79395856	79529325	+	ENSG00000131196.17	protein_coding	NF-ATC|NF-ATc1.2|NFAT2|NFATc	18q23	nuclear factor of activated T cells 1	The product of this gene is a component of the nuclear factor of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation, and an inducible nuclear component. Proteins belonging to this family of transcription factors play a central role in inducible gene transcription during immune response. The product of this gene is an inducible nuclear component. It functions as a major molecular target for the immunosuppressive drugs such as cyclosporin A. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Different isoforms of this protein may regulate inducible expression of different cytokine genes. [provided by RefSeq, Jul 2013]
NFATC2	chr20	51386957	51562831	-	ENSG00000101096.19	protein_coding	NFAT1|NFATP	20q13.2	nuclear factor of activated T cells 2	This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). This protein is present in the cytosol and only translocates to the nucleus upon T cell receptor (TCR) stimulation, where it becomes a member of the nuclear factors of activated T cells transcription complex. This complex plays a central role in inducing gene transcription during the immune response. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Apr 2012]
NFATC2IP	chr16	28950807	28967097	+	ENSG00000176953.12	protein_coding	ESC2|NIP45|RAD60	16p11.2	nuclear factor of activated T cells 2 interacting protein	Ubiquitous expression in lymph node (RPKM 11.4), spleen (RPKM 10.6) and 25 other tissues
NFATC3	chr16	68084751	68229259	+	ENSG00000072736.18	protein_coding	NF-AT4c|NFAT4|NFATX	16q22.1	nuclear factor of activated T cells 3	The product of this gene is a member of the nuclear factors of activated T cells DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor (TCR) stimulation and an inducible nuclear component. Other members of this family participate to form this complex also. The product of this gene plays a role in the regulation of gene expression in T cells and immature thymocytes. Several transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2010]
NFATC4	chr14	24365673	24379604	+	ENSG00000100968.13	protein_coding	NF-AT3|NF-ATC4|NFAT3	14q12	nuclear factor of activated T cells 4	This gene encodes a member of the nuclear factor of activated T cells (NFAT) protein family. The encoded protein is part of a DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor stimulation and an inducible nuclear component. NFAT proteins are activated by the calmodulin-dependent phosphatase, calcineurin. The encoded protein plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of interleukin-2 and interleukin-4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
NFE2	chr12	54292111	54301121	-	ENSG00000123405.13	protein_coding	NF-E2|p45	12q13.13	nuclear factor, erythroid 2	Biased expression in bone marrow (RPKM 31.8), spleen (RPKM 3.5) and 3 other tissues
NFE2L1	chr17	48048329	48061487	+	ENSG00000082641.15	protein_coding	LCR-F1|NRF-1|NRF1|TCF11	17q21.32	NFE2 like bZIP transcription factor 1	This gene encodes a protein that is involved in globin gene expression in erythrocytes. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene, NFE2L1, and for nuclear respiratory factor 1 which has an official symbol of NRF1. [provided by RefSeq, Jul 2008]
NFE2L2	chr2	177227595	177392697	-	ENSG00000116044.15	protein_coding	HEBP1|IMDDHH|NRF2|Nrf-2	2q31.2	NFE2 like bZIP transcription factor 2	This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. Multiple transcript variants encoding different isoforms have been characterized for this gene. [provided by RefSeq, Sep 2015]
NFE2L3	chr7	26152240	26187125	+	ENSG00000050344.8	protein_coding	NRF3	7p15.2	NFE2 like bZIP transcription factor 3	This gene encodes a member of the cap n collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope. Pseudogenes of this gene are found on chromosomes 16, 17, and 18. [provided by RefSeq, Mar 2009]
NFIA	chr1	60865259	61462793	+	ENSG00000162599.15	protein_coding	BRMUTD|CTF|NF-I/A|NF1-A|NFI-A|NFI-L	1p31.3	nuclear factor I A	This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
NFIB	chr9	14081843	14398983	-	ENSG00000147862.15	protein_coding	CTF|HMGIC/NFIB|MACID|NF-I/B|NF1-B|NFI-B|NFI-RED|NFIB2|NFIB3	9p23-p22.3	nuclear factor I B	Ubiquitous expression in fat (RPKM 8.5), brain (RPKM 6.3) and 24 other tissues
NFIC	chr19	3359563	3469217	+	ENSG00000141905.17	protein_coding	CTF|CTF5|NF-I|NFI	19p13.3	nuclear factor I C	The protein encoded by this gene belongs to the CTF/NF-I family. These are dimeric DNA-binding proteins, and function as cellular transcription factors and as replication factors for adenovirus DNA replication. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
NFIL3	chr9	91409045	91423862	-	ENSG00000165030.3	protein_coding	E4BP4|IL3BP1|NF-IL3A|NFIL3A	9q22.31	nuclear factor, interleukin 3 regulated	The protein encoded by this gene is a transcriptional regulator that binds as a homodimer to activating transcription factor (ATF) sites in many cellular and viral promoters. The encoded protein represses PER1 and PER2 expression and therefore plays a role in the regulation of circadian rhythm. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2014]
NFIX	chr19	12995608	13098796	+	ENSG00000008441.16	protein_coding	CTF|MRSHSS|NF-I/X|NF1-X|NF1A|SOTOS2	19p13.13	nuclear factor I X	The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5-TTGGCNNNNNGCCAA-3 in viral and cellular promoters. The encoded protein can also stimulate adenovirus replication in vitro. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
NFKB1	chr4	102501329	102617302	+	ENSG00000109320.11	protein_coding	CVID12|EBP-1|KBF1|NF-kB|NF-kB1|NF-kappa-B1|NF-kappaB|NF-kappabeta|NFKB-p105|NFKB-p50|NFkappaB	4q24	nuclear factor kappa B subunit 1	This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. NFKB is a critical regulator of the immediate-early response to viral infection. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed. [provided by RefSeq, Aug 2020]
NFKB2	chr10	102394110	102402529	+	ENSG00000077150.18	protein_coding	CVID10|H2TF1|LYT-10|LYT10|NF-kB2|p100|p49/p100|p52	10q24.32	nuclear factor kappa B subunit 2	This gene encodes a subunit of the transcription factor complex nuclear factor-kappa-B (NFkB). The NFkB complex is expressed in numerous cell types and functions as a central activator of genes involved in inflammation and immune function. The protein encoded by this gene can function as both a transcriptional activator or repressor depending on its dimerization partner. The p100 full-length protein is co-translationally processed into a p52 active form. Chromosomal rearrangements and translocations of this locus have been observed in B cell lymphomas, some of which may result in the formation of fusion proteins. There is a pseudogene for this gene on chromosome 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
NFKBIA	chr14	35401511	35404749	-	ENSG00000100906.10	protein_coding	EDAID2|IKBA|MAD-3|NFKBI	14q13.2	NFKB inhibitor alpha	This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]
NFKBIB	chr19	38899700	38908893	+	ENSG00000104825.16	protein_coding	IKBB|TRIP9	19q13.2	NFKB inhibitor beta	The protein encoded by this gene belongs to the NF-kappa-B inhibitor family, which inhibit NF-kappa-B by complexing with, and trapping it in the cytoplasm. Phosphorylation of serine residues on these proteins by kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kappa-B, which translocates to the nucleus to function as a transcription factor. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jul 2011]
NFKBIE	chr6	44258166	44265788	-	ENSG00000146232.15	protein_coding	IKBE	6p21.1	NFKB inhibitor epsilon	The protein encoded by this gene binds to components of NF-kappa-B, trapping the complex in the cytoplasm and preventing it from activating genes in the nucleus. Phosphorylation of the encoded protein targets it for destruction by the ubiquitin pathway, which activates NF-kappa-B by making it available to translocate to the nucleus. [provided by RefSeq, Sep 2011]
NFKBIL1	chr6	31546870	31558829	+	ENSG00000204498.10	protein_coding	IKBL|NFKBIL	6p21.33	NFKB inhibitor like 1	This gene encodes a divergent member of the I-kappa-B family of proteins. Its function has not been determined. The gene lies within the major histocompatibility complex (MHC) class I region on chromosome 6. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]
NFRKB	chr11	129863636	129895590	-	ENSG00000170322.14	protein_coding	INO80G	11q24.3	nuclear factor related to kappaB binding protein	Ubiquitous expression in testis (RPKM 11.1), ovary (RPKM 7.8) and 25 other tissues
NFS1	chr20	35668055	35699359	-	ENSG00000244005.12	protein_coding	COXPD52|HUSSY-08|IscS|NIFS	20q11.22	NFS1 cysteine desulfurase	Iron-sulfur clusters are required for the function of many cellular enzymes. The proteins encoded by this gene supply inorganic sulfur to these clusters by removing the sulfur from cysteine, creating alanine in the process. This gene uses alternate in-frame translation initiation sites to generate mitochondrial forms and cytoplasmic/nuclear forms. Selection of the alternative initiation sites is determined by the cytosolic pH. The encoded proteins belong to the class-V family of pyridoxal phosphate-dependent aminotransferases. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]
NFU1	chr2	69395750	69437628	-	ENSG00000169599.12	protein_coding	CGI-33|HIRIP|HIRIP5|MMDS1|NIFUC|Nfu|NifU	2p13.3	NFU1 iron-sulfur cluster scaffold	This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
NFX1	chr9	33290511	33371157	+	ENSG00000086102.18	protein_coding	NFX2|TEG-42|Tex42	9p13.3	nuclear transcription factor, X-box binding 1	MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a transcriptional repressor capable of binding to the conserved X box motif of HLA-DRA and other MHC class II genes in vitro. The protein may play a role in regulating the duration of an inflammatory response by limiting the period in which class II MHC molecules are induced by IFN-gamma. Three alternative splice variants, each of which encodes a different isoform, have been identified. [provided by RefSeq, Jul 2008]
NFXL1	chr4	47847233	47914667	-	ENSG00000170448.11	protein_coding	CDZFP|HOZFP|OZFP|URCC5	4p12	nuclear transcription factor, X-box binding like 1	Broad expression in testis (RPKM 11.1), thyroid (RPKM 5.9) and 25 other tissues
NFYA	chr6	41072945	41099976	+	ENSG00000001167.14	protein_coding	CBF-A|CBF-B|HAP2|NF-YA	6p21.1	nuclear transcription factor Y subunit alpha	The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds to CCAAT motifs in the promoter regions in a variety of genes. Subunit A associates with a tight dimer composed of the B and C subunits, resulting in a trimer that binds to DNA with high specificity and affinity. The sequence specific interactions of the complex are made by the A subunit, suggesting a role as the regulatory subunit. In addition, there is evidence of post-transcriptional regulation in this gene product, either by protein degradation or control of translation. Further regulation is represented by alternative splicing in the glutamine-rich activation domain, with clear tissue-specific preferences for the two isoforms. [provided by RefSeq, Jul 2008]
NFYB	chr12	104117077	104138289	-	ENSG00000120837.7	protein_coding	CBF-A|CBF-B|HAP3|NF-YB	12q23.3	nuclear transcription factor Y subunit beta	The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoter regions in a variety of genes. This gene product, subunit B, forms a tight dimer with the C subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Observation of the histone nature of these subunits is supported by two types of evidence; protein sequence alignments and experiments with mutants. [provided by RefSeq, Jul 2008]
NFYC	chr1	40691648	40771603	+	ENSG00000066136.20	protein_coding	CBF-C|CBFC|H1TF2A|HAP5|HSM|NF-YC	1p34.2	nuclear transcription factor Y subunit gamma	This gene encodes one subunit of a trimeric complex forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoters of a variety of genes. The encoded protein, subunit C, forms a tight dimer with the B subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
NGDN	chr14	23469688	23509862	+	ENSG00000129460.15	protein_coding	C14orf120|CANu1|LCP5|NGD|lpd-2	14q11.2	neuroguidin	Neuroguidin is an EIF4E (MIM 133440)-binding protein that interacts with CPEB (MIM 607342) and functions as a translational regulatory protein during development of the vertebrate nervous system (Jung et al., 2006 [PubMed 16705177]).[supplied by OMIM, Mar 2008]
NGEF	chr2	232878686	233013272	-	ENSG00000066248.14	protein_coding	ARHGEF27|EPHEXIN	2q37.1	neuronal guanine nucleotide exchange factor	Biased expression in brain (RPKM 32.1), duodenum (RPKM 14.9) and 8 other tissues
NGF	chr1	115285918	115338236	-	ENSG00000134259.3	protein_coding	Beta-NGF|HSAN5|NGFB	1p13.2	nerve growth factor	This gene is a member of the NGF-beta family and encodes a secreted protein which homodimerizes and is incorporated into a larger complex. This protein has nerve growth stimulating activity and the complex is involved in the regulation of growth and the differentiation of sympathetic and certain sensory neurons. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy, type 5 (HSAN5), and dysregulation of this genes expression is associated with allergic rhinitis. [provided by RefSeq, Jul 2008]
NGFR	chr17	49495293	49515017	+	ENSG00000064300.8	protein_coding	CD271|Gp80-LNGFR|TNFRSF16|p75(NTR)|p75NTR	17q21.33	nerve growth factor receptor	Nerve growth factor receptor contains an extracellular domain containing four 40-amino acid repeats with 6 cysteine residues at conserved positions followed by a serine/threonine-rich region, a single transmembrane domain, and a 155-amino acid cytoplasmic domain. The cysteine-rich region contains the nerve growth factor binding domain. [provided by RefSeq, Jul 2008]
NHEJ1	chr2	219075317	219160865	-	ENSG00000187736.12	protein_coding	XLF	2q35	non-homologous end joining factor 1	Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008]
NHLH1	chr1	160367067	160372848	+	ENSG00000171786.5	protein_coding	HEN1|NSCL|NSCL1|bHLHa35	1q23.2	nescient helix-loop-helix 1	The helix-loop-helix (HLH) proteins are a family of putative transcription factors, some of which have been shown to play an important role in growth and development of a wide variety of tissues and species. Four members of this family have been clearly implicated in tumorigenesis via their involvement in chromosomal translocations in lymphoid tumors: MYC (MIM 190080), LYL1 (MIM 151440), E2A (MIM 147141), and SCL (MIM 187040).[supplied by OMIM, Nov 2002]
NHLH2	chr1	115836377	115843917	-	ENSG00000177551.5	protein_coding	HEN2|NSCL2|bHLHa34	1p13.1	nescient helix-loop-helix 2	Low expression observed in reference dataset
NHLRC2	chr10	113854661	113917194	+	ENSG00000196865.4	protein_coding	FINCA	10q25.3	NHL repeat containing 2	Ubiquitous expression in heart (RPKM 7.9), thyroid (RPKM 6.2) and 25 other tissues
NHLRC3	chr13	39038306	39050109	+	ENSG00000188811.13	protein_coding	-	13q13.3	NHL repeat containing 3	Ubiquitous expression in thyroid (RPKM 11.4), fat (RPKM 10.8) and 25 other tissues
NHLRC4	chr16	566996	569495	+	ENSG00000257108.1	protein_coding	-	16p13.3	NHL repeat containing 4	Broad expression in kidney (RPKM 3.8), adrenal (RPKM 1.9) and 19 other tissues
NHP2P1	chr10	92216332	92216793	+	ENSG00000105988.6	processed_pseudogene	NOLA2P1|bA360G10.4	10q23.32	NHP2 ribonucleoprotein pseudogene 1	-
NHS	chrX	17375420	17735994	+	ENSG00000188158.14	protein_coding	CTRCT40|CXN|SCML1	Xp22.2-p22.13	NHS actin remodeling regulator	This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]
NHSL1	chr6	138422043	138692571	-	ENSG00000135540.11	protein_coding	C6orf63	6q24.1	NHS like 1	Broad expression in small intestine (RPKM 4.4), colon (RPKM 3.6) and 17 other tissues
NIBAN1	chr1	 184791032	184974508	-	ENSG00000135842	protein-coding	C1orf24|FAM129A|GIG39|NIBAN	1q25.3	niban apoptosis regulator 1	This gene encodes a member of the family with sequence similarity 129 protein family. This gene is highly expressed in several cancer cells and may serve as a prognostic marker for certain cancers. The encoded protein may play a role in regulating p53-mediated apoptosis. [provided by RefSeq, Sep 2016]
NIBAN2	chr9	 127505343	127579031	-	ENSG00000136830	protein-coding	C9orf88|FAM129B|MEG-3|MINERVA|OC58|bA356B19.6	9q34.11	niban apoptosis regulator 2	Broad expression in esophagus (RPKM 167.0), lung (RPKM 55.7) and 20 other tissues
NIBAN3	chr19	 17523301	17555537	+	ENSG00000167483	protein-coding	BCNP1|FAM129C	19p13.11	niban apoptosis regulator 3	Biased expression in spleen (RPKM 12.1), lymph node (RPKM 9.4) and 2 other tissues
NICN1	chr3	49422946	49429326	-	ENSG00000145029.13	protein_coding	-	3p21.31	nicolin 1	Ubiquitous expression in brain (RPKM 9.6), thyroid (RPKM 9.5) and 25 other tissues
NID2	chr14	52004803	52069228	-	ENSG00000087303.17	protein_coding	NID-2	14q22.1	nidogen 2	This gene encodes a member of the nidogen family of basement membrane proteins. This protein is a cell-adhesion protein that binds collagens I and IV and laminin and may be involved in maintaining the structure of the basement membrane.[provided by RefSeq, Jun 2010]
NIF3L1	chr2	200889327	200903930	+	ENSG00000196290.14	protein_coding	ALS2CR1|CALS-7|MDS015	2q33.1	NGG1 interacting factor 3 like 1	Ubiquitous expression in lymph node (RPKM 6.5), testis (RPKM 6.0) and 25 other tissues
NIFKP8	chr15	85181210	85182083	-	ENSG00000259449.1	processed_pseudogene	MKI67IPP8	15q25.3	nucleolar protein interacting with the FHA domain of MKI67 pseudogene 8	-
NIM1K	chr5	43192071	43280850	+	ENSG00000177453.7	protein_coding	NIM1	5p12	NIM1 serine/threonine protein kinase	Biased expression in brain (RPKM 4.6), lung (RPKM 0.6) and 3 other tissues
NIN	chr14	50719763	50831121	-	ENSG00000100503.23	protein_coding	SCKL7	14q22.1	ninein	This gene encodes one of the proteins important for centrosomal function. This protein is important for positioning and anchoring the microtubules minus-ends in epithelial cells. Localization of this protein to the centrosome requires three leucine zippers in the central coiled-coil domain. Multiple alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]
NINJ1	chr9	93121489	93134288	-	ENSG00000131669.9	protein_coding	NIN1|NINJURIN	9q22.31	ninjurin 1	The ninjurin protein is upregulated after nerve injury both in dorsal root ganglion neurons and in Schwann cells (Araki and Milbrandt, 1996 [PubMed 8780658]). It demonstrates properties of a homophilic adhesion molecule and promotes neurite outgrowth from primary cultured dorsal root ganglion neurons.[supplied by OMIM, Aug 2009]
NINJ2	chr12	564296	663779	-	ENSG00000171840.11	protein_coding	-	12p13.33	ninjurin 2	Broad expression in lung (RPKM 12.3), bone marrow (RPKM 6.0) and 21 other tissues
NINL	chr20	25452705	25585517	-	ENSG00000101004.14	protein_coding	NLP	20p11.21	ninein like	Broad expression in kidney (RPKM 4.4), ovary (RPKM 3.4) and 23 other tissues
NIP7	chr16	69339430	69343111	+	ENSG00000132603.13	protein_coding	CGI-37|HSPC031|KD93	16q22.1	nucleolar pre-rRNA processing protein NIP7	Ubiquitous expression in lymph node (RPKM 9.5), appendix (RPKM 8.7) and 25 other tissues
NIPA1	chr15	22773063	22829791	+	ENSG00000170113.15	protein_coding	FSP3|SLC57A1|SPG6	15q11.2	NIPA magnesium transporter 1	This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008]
NIPA2	chr15	22838641	22868384	+	ENSG00000140157.14	protein_coding	SLC57A2	15q11.2	NIPA magnesium transporter 2	This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq, May 2010]
NIPA2P1	chr7	91320128	91321103	-	ENSG00000225843.1	processed_pseudogene	-	7q21.13	NIPA2 pseudogene 1	-
NIPAL1	chr4	47914142	48040173	+	ENSG00000163293.11	protein_coding	NPAL1|SLC57A3	4p12	NIPA like domain containing 1	Biased expression in esophagus (RPKM 12.5), skin (RPKM 12.2) and 13 other tissues
NIPAL2	chr8	98189833	98294393	-	ENSG00000104361.9	protein_coding	NPAL2|SLC57A4	8q22.2	NIPA like domain containing 2	Ubiquitous expression in skin (RPKM 16.1), prostate (RPKM 7.7) and 25 other tissues
NIPAL3	chr1	24415794	24472976	+	ENSG00000001461.16	protein_coding	DJ462O23.2|NPAL3|SLC57A5	1p36.11	NIPA like domain containing 3	Broad expression in brain (RPKM 18.3), prostate (RPKM 16.8) and 24 other tissues
NIPAL4	chr5	157460019	157474717	+	ENSG00000172548.14	protein_coding	ARCI6|ICHTHYIN|ICHYN|SLC57A6	5q33.3	NIPA like domain containing 4	This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]
NIPBL	chr5	36876759	37066413	+	ENSG00000164190.17	protein_coding	CDLS|CDLS1|IDN3|IDN3-B|Scc2	5p13.2	NIPBL cohesin loading factor	This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
NIPSNAP1	chr22	29554808	29581337	-	ENSG00000184117.11	protein_coding	-	22q12.2	nipsnap homolog 1	Ubiquitous expression in liver (RPKM 78.8), kidney (RPKM 57.0) and 24 other tissues
NIPSNAP2	chr7	 55964585	56000179	+	ENSG00000146729	protein-coding	GBAS	7p11.2	nipsnap homolog 2	This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
NIPSNAP3A	chr9	104747688	104760122	+	ENSG00000136783.9	protein_coding	HSPC299|NIPSNAP4|TASSC	9q31.1	nipsnap homolog 3A	NIPSNAP3A belongs to a family of proteins with putative roles in vesicular transport (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008]
NIPSNAP3B	chr9	104764157	104777457	+	ENSG00000165028.11	protein_coding	FP944|NIPSNAP3|SNAP1	9q31.1	nipsnap homolog 3B	NIPSNAP3B belongs to a family of proteins with putative roles in vesicular trafficking (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008]
NISCH	chr3	52455118	52493071	+	ENSG00000010322.15	protein_coding	I-1|IR1|IRAS|hIRAS	3p21.1	nischarin	This gene encodes a nonadrenergic imidazoline-1 receptor protein that localizes to the cytosol and anchors to the inner layer of the plasma membrane. The orthologous mouse protein has been shown to influence cytoskeletal organization and cell migration by binding to alpha-5-beta-1 integrin. In humans, this protein has been shown to bind to the adapter insulin receptor substrate 4 (IRS4) to mediate translocation of alpha-5 integrin from the cell membrane to endosomes. Expression of this protein was reduced in human breast cancers while its overexpression reduced tumor growth and metastasis; possibly by limiting the expression of alpha-5 integrin. In human cardiac tissue, this gene was found to affect cell growth and death while in neural tissue it affected neuronal growth and differentiation. Alternative splicing results in multiple transcript variants encoding differerent isoforms. Some isoforms lack the expected C-terminal domains of a functional imidazoline receptor. [provided by RefSeq, Jan 2013]
NIT1	chr1	161118086	161125445	+	ENSG00000158793.13	protein_coding	-	1q23.3	nitrilase 1	Ubiquitous expression in adrenal (RPKM 11.4), kidney (RPKM 10.4) and 25 other tissues
NIT2	chr3	100334701	100361635	+	ENSG00000114021.11	protein_coding	HEL-S-8a	3q12.2	nitrilase family member 2	Ubiquitous expression in kidney (RPKM 49.7), liver (RPKM 37.5) and 25 other tissues
NKAIN1	chr1	31179745	31239554	-	ENSG00000084628.9	protein_coding	FAM77C	1p35.2	sodium/potassium transporting ATPase interacting 1	NKAIN1 is a member of a family of mammalian proteins with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]
NKAIN2	chr6	123804141	124825657	+	ENSG00000188580.14	protein_coding	FAM77B|NKAIP2|TCBA|TCBA1	6q22.31	sodium/potassium transporting ATPase interacting 2	This gene encodes a transmembrane protein that interacts with the beta subunit of a sodium/potassium-transporting ATPase. A chromosomal translocation involving this gene is a cause of lymphoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
NKAIN4	chr20	63240784	63272694	-	ENSG00000101198.14	protein_coding	C20orf58|FAM77A|bA261N11.2	20q13.33	sodium/potassium transporting ATPase interacting 4	NKAIN4 is a member of a family of mammalian proteins (see NKAIN1; MIM 612871) with similarity to Drosophila Nkain and interacts with the beta subunit of Na,K-ATPase (ATP1B1; MIM 182330) (Gorokhova et al., 2007 [PubMed 17606467]).[supplied by OMIM, Jun 2009]
NKAPD1	chr11	 112074299	112085150	+	ENSG00000150776	protein-coding	C11orf57	11q23.1	NKAP domain containing 1	Ubiquitous expression in thyroid (RPKM 9.5), brain (RPKM 8.4) and 25 other tissues
NKAPL	chr6	28259320	28260958	+	ENSG00000189134.3	protein_coding	C6orf194|bA424I5.1	6p22.1	NFKB activating protein like	-
NKD1	chr16	50548330	50649249	+	ENSG00000140807.6	protein_coding	Naked1	16q12.1	NKD inhibitor of WNT signaling pathway 1	In the mouse, Nkd is a Dishevelled (see DVL1; MIM 601365)-binding protein that functions as a negative regulator of the Wnt (see WNT1; MIM 164820)-beta-catenin (see MIM 116806)-Tcf (see MIM 602272) signaling pathway.[supplied by OMIM, Jun 2003]
NKD2	chr5	1008829	1038943	+	ENSG00000145506.13	protein_coding	Naked2	5p15.33	NKD inhibitor of WNT signaling pathway 2	This gene encodes a member of a family of proteins that function as negative regulators of Wnt receptor signaling through interaction with Dishevelled family members. The encoded protein participates in the delivery of transforming growth factor alpha-containing vesicles to the cell membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
NKIRAS1	chr3	23891660	23946591	-	ENSG00000197885.10	protein_coding	KBRAS1|kappaB-Ras1	3p24.2	NFKB inhibitor interacting Ras like 1	Ubiquitous expression in brain (RPKM 15.3), testis (RPKM 11.7) and 25 other tissues
NKIRAS2	chr17	42011382	42025644	+	ENSG00000168256.17	protein_coding	KBRAS2|kappaB-Ras2	17q21.2	NFKB inhibitor interacting Ras like 2	Ubiquitous expression in placenta (RPKM 30.4), esophagus (RPKM 22.7) and 25 other tissues
NKPD1	chr19	45149750	45158737	-	ENSG00000179846.9	protein_coding	-	19q13.32	NTPase KAP family P-loop domain containing 1	-
NKTR	chr3	42600614	42648741	+	ENSG00000114857.17	protein_coding	p104	3p22.1	natural killer cell triggering receptor	This gene encodes a membrane-anchored protein with a hydrophobic amino terminal domain and a cyclophilin-like PPIase domain. It is present on the surface of natural killer cells and facilitates their binding to targets. Its expression is regulated by IL2 activation of the cells. [provided by RefSeq, Jul 2008]
NKX1-2	chr10	124445239	124450184	-	ENSG00000229544.8	protein_coding	C10orf121|NKX-1.1|bB238F13.2	10q26.13	NK1 homeobox 2	Low expression observed in reference dataset
NKX2-1	chr14	36516392	36521149	-	ENSG00000136352.17	protein_coding	BCH|BHC|NK-2|NKX2.1|NKX2A|NMTC1|T/EBP|TEBP|TITF1|TTF-1|TTF1	14q13.3	NK2 homeobox 1	This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias TTF1 with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014]
NKX2-1-AS1	chr14	36519278	36523016	+	ENSG00000253563.2	antisense	-	14q13.3	NKX2-1 antisense RNA 1	-
NKX2-2	chr20	21511010	21514026	-	ENSG00000125820.5	protein_coding	NKX2.2|NKX2B	20p11.22	NK2 homeobox 2	The protein encoded by this gene contains a homeobox domain and may be involved in the morphogenesis of the central nervous system. This gene is found on chromosome 20 near NKX2-4, and these two genes appear to be duplicated on chromosome 14 in the form of TITF1 and NKX2-8. The encoded protein is likely to be a nuclear transcription factor. [provided by RefSeq, Jul 2008]
NKX2-2-AS1	chr20	21511447	21512309	+	ENSG00000258197.1	antisense	NKX2-2AS	20p11.22	NKX2-2 antisense RNA 1	-
NKX2-3	chr10	99532933	99536524	+	ENSG00000119919.10	protein_coding	CSX3|NK2.3|NKX2.3|NKX2C|NKX4-3	10q24.2	NK2 homeobox 3	This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential role in cellular differentiation.[provided by RefSeq, Mar 2010]
NKX2-4	chr20	21395367	21398028	-	ENSG00000125816.4	protein_coding	NKX2.4|NKX2D	20p11.22	NK2 homeobox 4	Low expression observed in reference dataset
NKX2-5	chr5	173232109	173235357	-	ENSG00000183072.9	protein_coding	CHNG5|CSX|CSX1|HLHS2|NKX2.5|NKX2E|NKX4-1|VSD3	5q35.1	NK2 homeobox 5	This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
NKX2-6	chr8	23702451	23706598	-	ENSG00000180053.7	protein_coding	CSX2|CTHM|NKX2F|NKX4-2	8p21.2	NK2 homeobox 6	This gene encodes a homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate homolog of Drosophila homeobox-containing protein called tinman, which has been shown to be essential for development of the heart-like dorsal vessel. In conjunction with related gene, NKX2-5, this gene may play a role in both pharyngeal and cardiac embryonic development. Mutations in this gene are associated with persistent truncus arteriosus.[provided by RefSeq, Aug 2011]
NKX3-1	chr8	23678693	23682927	-	ENSG00000167034.9	protein_coding	BAPX2|NKX3|NKX3.1|NKX3A	8p21.2	NK3 homeobox 1	This gene encodes a homeobox-containing transcription factor. This transcription factor functions as a negative regulator of epithelial cell growth in prostate tissue. Aberrant expression of this gene is associated with prostate tumor progression. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jan 2012]
NKX3-2	chr4	13540830	13545050	-	ENSG00000109705.7	protein_coding	BAPX1|NKX3.2|NKX3B|SMMD	4p15.33	NK3 homeobox 2	This gene encodes a member of the NK family of homeobox-containing proteins. The encoded protein may play a role in skeletal development. [provided by RefSeq, Jul 2008]
NKX6-3	chr8	41645178	41650669	-	ENSG00000165066.12	protein_coding	NKX6.3	8p11.21	NK6 homeobox 3	The NKX family of homeodomain proteins controls numerous developmental processes. Members of the NKX6 subfamily, including NKX6-3, are involved in development of the central nervous system (CNS), gastrointestinal tract, and pancreas (Alanentalo et al., 2006 [PubMed 16326147]).[supplied by OMIM, Mar 2008]
NLE1	chr17	35128753	35142315	-	ENSG00000073536.17	protein_coding	NLE	17q12	notchless homolog 1	Ubiquitous expression in testis (RPKM 6.4), ovary (RPKM 4.9) and 25 other tissues
NLGN1	chr3	173396284	174286644	+	ENSG00000169760.17	protein_coding	NL1	3q26.31	neuroligin 1	This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq, Jul 2008]
NLGN2	chr17	7404874	7419860	+	ENSG00000169992.9	protein_coding	-	17p13.1	neuroligin 2	Broad expression in brain (RPKM 29.8), endometrium (RPKM 15.7) and 20 other tissues
NLGN4X	chrX	5840637	6228863	-	ENSG00000146938.14	protein_coding	ASPGX2|AUTSX2|HLNX|HNL4X|NLGN4	Xp22.32-p22.31	neuroligin 4 X-linked	This gene encodes a member of the type-B carboxylesterase/lipase protein family. The encoded protein belongs to a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. The encoded protein interacts with discs large homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
NLK	chr17	28041737	28196381	+	ENSG00000087095.12	protein_coding	-	17q11.2	nemo like kinase	-
NLN	chr5	65722196	65871725	+	ENSG00000123213.22	protein_coding	AGTBP|EP24.16|MEP|MOP	5q12.3	neurolysin	This gene encodes a member of the metallopeptidase M3 protein family that cleaves neurotensin at the Pro10-Tyr11 bond, leading to the formation of neurotensin(1-10) and neurotensin(11-13). The encoded protein is likely involved in the termination of the neurotensinergic signal in the central nervous system and in the gastrointestinal tract.[provided by RefSeq, Jun 2010]
NLRC3	chr16	3539033	3577400	-	ENSG00000167984.17	protein_coding	CLR16.2|NOD3	16p13.3	NLR family CARD domain containing 3	This gene encodes a NOD-like receptor family member. The encoded protein is a cytosolic regulator of innate immunity. This protein directly interacts with stimulator of interferon genes (STING), to prevent its proper trafficking, resulting in disruption of STING-dependent activation of the innate immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
NLRC4	chr2	32224453	32265854	-	ENSG00000091106.18	protein_coding	AIFEC|CARD12|CLAN|CLAN1|CLANA|CLANB|CLANC|CLAND|CLR2.1|FCAS4|IPAF	2p22.3	NLR family CARD domain containing 4	This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
NLRC5	chr16	56989485	57083531	+	ENSG00000140853.15	protein_coding	CLR16.1|NOD27|NOD4	16q13	NLR family CARD domain containing 5	This gene encodes a member of the caspase recruitment domain-containing NLR family. This gene plays a role in cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation and negative regulation of type I interferon signaling pathways. [provided by RefSeq, Oct 2011]
NLRP1	chr17	5499427	5619424	-	ENSG00000091592.15	protein_coding	AIADK|CARD7|CIDED|CLR17.1|DEFCAP|DEFCAP-L/S|JRRP|MSPC|NAC|NALP1|PP1044|SLEV1|VAMAS1	17p13.2	NLR family pyrin domain containing 1	This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
NLRP12	chr19	53793603	53824394	-	ENSG00000142405.21	protein_coding	CLR19.3|FCAS2|NALP12|PAN6|PYPAF7|RNO|RNO2	19q13.42	NLR family pyrin domain containing 12	This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
NLRP2	chr19	54953130	55001142	+	ENSG00000022556.15	protein_coding	CLR19.9|NALP2|NBS1|PAN1|PYPAF2	19q13.42	NLR family pyrin domain containing 2	This gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). Members of this gene family are thought to be important regulators of immune responses. This gene product interacts with components of the IkB kinase (IKK) complex, and can regulate both caspase-1 and NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) activity. The pyrin domain is necessary and sufficient for suppression of NF-kB activity. An allelic variant (rs147585490) has been found that is incapable of blocking the transcriptional activity of NF-kB. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
NLRP3	chr1	247416156	247449108	+	ENSG00000162711.16	protein_coding	AGTAVPRL|AII|AVP|C1orf7|CIAS1|CLR1.1|DFNA34|FCAS|FCAS1|FCU|KEFH|MWS|NALP3|PYPAF1	1q44	NLR family pyrin domain containing 3	This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NLRP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. The SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has been shown to activate the NLRP3 inflammasome via the formation of ion channels in macrophages. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, neonatal-onset multisystem inflammatory disease (NOMID), keratoendotheliitis fugax hereditarian, and deafness, autosomal dominant 34, with or without inflammation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5 UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5 UTR splice patterns are biologically valid. [provided by RefSeq, Aug 2020]
NLRP6	chr11	278365	285359	+	ENSG00000174885.12	protein_coding	AVR|CLR11.4|NALP6|NAVR|NAVR/AVR|PAN3|PYPAF5	11p15.5	NLR family pyrin domain containing 6	The protein encoded by this gene binds arginine-vasopressin and may be involved in the arginine-vasopressin-mediated regulation of renal salt-water balance. The encoded protein also mediates inflammatory responses in the colon to allow recovery from intestinal epithelial damage and protects against tumorigenesis and the development of colitis. Finally, this protein can increase activation of NF-kappa-B, activation of CASP1 through interaction with ASC, and cAMP accumulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
NLRP8	chr19	55947832	55988629	+	ENSG00000179709.8	protein_coding	CLR19.2|NALP8|NOD16|PAN4	19q13.43	NLR family pyrin domain containing 8	This gene encodes a member of the nucleotide-binding oligomerization domain/ leucine rich repeat/ pyrin domain containing (NLRP) subfamily, which belongs to the Nod-like receptor family of proteins. NLRP genes play roles in the mammalian innate immune system through inflammasome formation and activation of caspases. In addition, NLRP genes have been found to function during mammalian reproduction. Consistent with a function during human preimplantation development, this gene is expressed at high levels in oocytes with decreased levels in embryos. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
NLRX1	chr11	119166568	119184016	+	ENSG00000160703.15	protein_coding	CLR11.3|DLNB26|NOD26|NOD5|NOD9	11q23.3	NLR family member X1	The protein encoded by this gene is a member of the NLR family and localizes to the outer mitochondrial membrane. The encoded protein is a regulator of mitochondrial antivirus responses. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2013]
NMB	chr15	84655129	84658563	-	ENSG00000197696.9	protein_coding	-	15q25.2	neuromedin B	Biased expression in fat (RPKM 21.3), brain (RPKM 11.2) and 5 other tissues
NMBR	chr6	142058330	142088799	-	ENSG00000135577.4	protein_coding	BB1|BB1R|BRS1|NMB-R	6q24.1	neuromedin B receptor	This gene encodes a 7-transmembrane G protein-coupled receptor that binds neuromedin B, which is a growth factor and mitogen for gastrointestinal epithelial tissue and for normal and neoplastic lung. This receptor may play a role in smooth muscle contraction, neuronal responses, and the regulation of cell growth. Antagonists of this receptor have a potential therapeutic use in inhibiting tumor cell growth. Polymorphisms in this gene may be associated with a susceptibility for schizophrenia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
NMD3	chr3	161104696	161253532	+	ENSG00000169251.12	protein_coding	CGI-07	3q26.1	NMD3 ribosome export adaptor	Ribosomal 40S and 60S subunits associate in the nucleolus and are exported to the cytoplasm. The protein encoded by this gene is involved in the passage of the 60S subunit through the nuclear pore complex and into the cytoplasm. Several transcript variants exist for this gene, but the full-length natures of only two have been described to date. [provided by RefSeq, Feb 2016]
NME1	chr17	51153536	51162428	+	ENSG00000239672.7	protein_coding	AWD|GAAD|NB|NBS|NDKA|NDPK-A|NDPKA|NM23|NM23-H1	17q21.33	NME/NM23 nucleoside diphosphate kinase 1	This gene (NME1) was identified because of its reduced mRNA transcript levels in highly metastatic cells. Nucleoside diphosphate kinase (NDK) exists as a hexamer composed of A (encoded by this gene) and B (encoded by NME2) isoforms. Mutations in this gene have been identified in aggressive neuroblastomas. Two transcript variants encoding different isoforms have been found for this gene. Co-transcription of this gene and the neighboring downstream gene (NME2) generates naturally-occurring transcripts (NME1-NME2), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Jul 2008]
NME1-NME2	chr17	51153590	51171744	+	ENSG00000011052.21	protein_coding	NM23-LV|NMELV	17q21.33	NME1-NME2 readthrough	This locus represents naturally occurring read-through transcription between the neighboring NME1 and NME2 genes. The significance of this read-through transcription and the function of the resulting protein product have not yet been determined. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2010]
NME3	chr16	1770286	1771730	-	ENSG00000103024.7	protein_coding	DR-nm23|NDPK-C|NDPKC|NM23-H3|NM23H3|c371H6.2	16p13.3	NME/NM23 nucleoside diphosphate kinase 3	Ubiquitous expression in prostate (RPKM 24.8), fat (RPKM 18.6) and 25 other tissues
NME4	chr16	396725	410367	+	ENSG00000103202.12	protein_coding	NDPK-D|NM23H4|nm23-H4	16p13.3	NME/NM23 nucleoside diphosphate kinase 4	The nucleoside diphosphate (NDP) kinases (EC 2.7.4.6) are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates. The enzymes are products of the nm23 gene family, which includes NME4 (Milon et al., 1997 [PubMed 9099850]).[supplied by OMIM, May 2008]
NME5	chr5	138115172	138139443	-	ENSG00000112981.4	protein_coding	NM23-H5|NM23H5|RSPH23	5q31.2	NME/NM23 family member 5	Biased expression in testis (RPKM 15.2), kidney (RPKM 4.4) and 8 other tissues
NME6	chr3	48293264	48301685	-	ENSG00000172113.8	protein_coding	IPIA-ALPHA|NDK 6|NM23-H6	3p21.31	NME/NM23 nucleoside diphosphate kinase 6	Nucleoside diphosphate (NDP) kinases (EC 2.7.4.6), such as NME6, are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates (Mehus et al., 1999 [PubMed 10453732]).[supplied by OMIM, Jul 2010]
NME7	chr1	169132531	169367967	-	ENSG00000143156.13	protein_coding	CFAP67|MN23H7|NDK 7|NDK7|nm23-H7	1q24.2	NME/NM23 family member 7	This gene encodes a member of the non-metastatic expressed family of nucleoside diphosphate kinases. Members of this family are enzymes that catalyzes phosphate transfer from nucleoside triphosphates to nucleoside diphosphates. This protein contains two kinase domains, one of which is involved in autophosphorylation and the other may be inactive. This protein localizes to the centrosome and functions as a component of the gamma-tubulin ring complex which plays a role in microtubule organization. Mutations in this gene may be associated with venous thromboembolism. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
NME8	chr7	37848597	37900401	+	ENSG00000086288.11	protein_coding	CILD6|DNAI8|HEL-S-99|NM23-H8|SPTRX2|TXNDC3|sptrx-2	7p14.1	NME/NM23 family member 8	This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009]
NME9	chr3	138261437	138329886	-	ENSG00000181322.13	protein_coding	NM23-H9|NXL2|TXL-2|TXL2|TXNDC6	3q22.3	NME/NM23 family member 9	Ubiquitous expression in thyroid (RPKM 1.1), brain (RPKM 1.0) and 25 other tissues
NMI	chr2	151270465	151290057	-	ENSG00000123609.10	protein_coding	-	2q23.3	N-myc and STAT interactor	Ubiquitous expression in appendix (RPKM 16.7), bone marrow (RPKM 15.4) and 24 other tissues
NMNAT1	chr1	9943428	9985501	+	ENSG00000173614.13	protein_coding	LCA9|NMNAT|PNAT1|SHILCA	1p36.22	nicotinamide nucleotide adenylyltransferase 1	This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. [provided by RefSeq, Jul 2014]
NMNAT1P1	chr14	81032529	81033404	+	ENSG00000259167.2	processed_pseudogene	NMNATP	14q31.1	NMNAT1 pseudogene 1	-
NMNAT2	chr1	183248237	183418602	-	ENSG00000157064.10	protein_coding	C1orf15|PNAT2	1q25.3	nicotinamide nucleotide adenylyltransferase 2	This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
NMNAT3	chr3	139560180	139678017	-	ENSG00000163864.15	protein_coding	FKSG76|PNAT-3|PNAT3	3q23	nicotinamide nucleotide adenylyltransferase 3	This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These enzymes use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotinic acid adenine dinucleotide from nicotinamide mononucleotide or nicotinic acid mononucleotide, respectively. The encoded protein is localized to mitochondria and may also play a neuroprotective role as a molecular chaperone. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
NMRAL1	chr16	4461680	4495763	-	ENSG00000153406.13	protein_coding	HSCARG|SDR48A1	16p13.3	NmrA like redox sensor 1	This gene encodes an NADPH sensor protein that preferentially binds to NADPH. The encoded protein also negatively regulates the activity of NF-kappaB in a ubiquitylation-dependent manner. It plays a key role in cellular antiviral response by negatively regulating the interferon response factor 3-mediated expression of interferon beta. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
NMRAL2P	chr3	185959943	185980872	+	ENSG00000171658.8	transcribed_unprocessed_pseudogene	NMRAL1P1	3q27.2	NmrA like redox sensor 2, pseudogene	Biased expression in skin (RPKM 5.5), colon (RPKM 2.2) and 7 other tissues
NMRK1	chr9	75060573	75088217	-	ENSG00000106733.20	protein_coding	C9orf95|NRK1|bA235O14.2	9q21.13	nicotinamide riboside kinase 1	Nicotinamide adenine dinucleotide (NAD+) is essential for life in all organisms, both as a coenzyme for oxidoreductases and as a source of ADP-ribosyl groups used in various reactions. Nicotinic acid and nicotinamide, collectively known as niacin, are the vitamin precursors of NAD+. Nicotinamide riboside kinases, such as NRK1, function to synthesize NAD+ through nicotinamide mononucleotide using nicotinamide riboside as the precursor (Bieganowski and Brenner, 2004 [PubMed 15137942]).[supplied by OMIM, Mar 2008]
NMRK2	chr19	3933103	3942416	+	ENSG00000077009.13	protein_coding	ITGB1BP3|MIBP|NRK2	19p13.3	nicotinamide riboside kinase 2	Restricted expression toward heart (RPKM 167.4)
NMT1	chr17	45051610	45109016	+	ENSG00000136448.11	protein_coding	NMT	17q21.31	N-myristoyltransferase 1	Myristate, a rare 14-carbon saturated fatty acid, is cotranslationally attached by an amide linkage to the N-terminal glycine residue of cellular and viral proteins with diverse functions. N-myristoyltransferase (NMT; EC 2.3.1.97) catalyzes the transfer of myristate from CoA to proteins. N-myristoylation appears to be irreversible and is required for full expression of the biologic activities of several N-myristoylated proteins, including the alpha subunit of the signal-transducing guanine nucleotide-binding protein (G protein) GO (GNAO1; MIM 139311) (Duronio et al., 1992 [PubMed 1570339]).[supplied by OMIM, Nov 2008]
NMT2	chr10	15102584	15168693	-	ENSG00000152465.17	protein_coding	-	10p13	N-myristoyltransferase 2	Ubiquitous expression in fat (RPKM 9.3), testis (RPKM 5.5) and 24 other tissues
NMU	chr4	55595229	55636698	-	ENSG00000109255.11	protein_coding	-	4q12	neuromedin U	Biased expression in esophagus (RPKM 5.6), skin (RPKM 5.5) and 6 other tissues
NMUR1	chr2	231523160	231530495	-	ENSG00000171596.6	protein_coding	(FM-3)|FM-3|FM3|GPC-R|GPR66|NMU1R	2q37.1	neuromedin U receptor 1	Broad expression in fat (RPKM 2.5), lung (RPKM 1.6) and 20 other tissues
NMUR2	chr5	152391532	152433368	-	ENSG00000132911.4	protein_coding	FM-4|FM4|NMU-R2|NMU2R|TGR-1|TGR1	5q33.1	neuromedin U receptor 2	This gene encodes a protein from the G-protein coupled receptor 1 family. This protein is a receptor for neuromedin U, which is a neuropeptide that is widely distributed in the gut and central nervous system. This receptor plays an important role in the regulation of food intake and body weight. [provided by RefSeq, Jul 2008]
NNAT	chr20	37521215	37523693	+	ENSG00000053438.8	protein_coding	Peg5	20q11.23	neuronatin	The protein encoded by this gene is a proteolipid that may be involved in the regulation of ion channels during brain development. The encoded protein may also play a role in forming and maintaining the structure of the nervous system. This gene is found within an intron of another gene, bladder cancer associated protein, but on the opposite strand. This gene is imprinted and is expressed only from the paternal allele. [provided by RefSeq, Apr 2016]
NNT	chr5	43602692	43707405	+	ENSG00000112992.16	protein_coding	GCCD4	5p12	nicotinamide nucleotide transhydrogenase	This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membrane. Under most physiological conditions, the enzyme uses energy from the mitochondrial proton gradient to produce high concentrations of NADPH. The resulting NADPH is used for biosynthesis and in free radical detoxification. [provided by RefSeq, Sep 2016]
NNT-AS1	chr5	43571594	43603230	-	ENSG00000248092.7	antisense	-	5p12	NNT antisense RNA 1	-
NOA1	chr4	56963370	56978823	-	ENSG00000084092.6	protein_coding	C4orf14|MTG3|hAtNOS1|hNOA1|mAtNOS1	4q12	nitric oxide associated 1	The protein encoded by this gene is a nuclear-encoded GTPase that functions in the mitochondrion. Upon translation, this protein is imported into the nucleus and then into the nucleolus before being exported to the mitochondrion. The encoded protein is required for oxygen-dependent regulation of mitochondrial respiratory complexes and for mitochondrial protein synthesis. [provided by RefSeq, Dec 2015]
NOB1	chr16	69741867	69754940	-	ENSG00000141101.12	protein_coding	ART-4|MST158|MSTP158|NOB1P|PSMD8BP1	16q22.1	NIN1 (RPN12) binding protein 1 homolog	In yeast, over 200 protein and RNA cofactors are required for ribosome assembly, and these are generally conserved in eukaryotes. These factors orchestrate modification and cleavage of the initial 35S precursor rRNA transcript into the mature 18S, 5.8S, and 25S rRNAs, folding of the rRNA, and binding of ribosomal proteins and 5S RNA. Nob1 is involved in pre-rRNA processing. In a late cytoplasmic processing step, Nob1 cleaves a 20S rRNA intermediate at cleavage site D to produce the mature 18S rRNA (Lamanna and Karbstein, 2009 [PubMed 19706509]).[supplied by OMIM, Nov 2010]
NOC2L	chr1	944204	959309	-	ENSG00000188976.10	protein_coding	NET15|NET7|NIR|PPP1R112	1p36.33	NOC2 like nucleolar associated transcriptional repressor	Histone modification by histone acetyltransferases (HAT) and histone deacetylases (HDAC) can control major aspects of transcriptional regulation. NOC2L represents a novel HDAC-independent inhibitor of histone acetyltransferase (INHAT) (Hublitz et al., 2005 [PubMed 16322561]).[supplied by OMIM, Mar 2008]
NOC3L	chr10	94333226	94362959	-	ENSG00000173145.11	protein_coding	AD24|C10orf117|FAD24	10q23.33	NOC3 like DNA replication regulator	Ubiquitous expression in thyroid (RPKM 7.2), testis (RPKM 6.7) and 25 other tissues
NOC4L	chr12	132144448	132152473	+	ENSG00000184967.6	protein_coding	NET49|NOC4|UTP19	12q24.33	nucleolar complex associated 4 homolog	Broad expression in testis (RPKM 11.3), spleen (RPKM 5.6) and 25 other tissues
NOCT	chr4	139015789	139045939	+	ENSG00000151014.5	protein_coding	CCR4L|CCRN4L|Ccr4c|NOC	4q31.1	nocturnin	The protein encoded by this gene is highly similar to Nocturnin, a gene identified as a circadian clock regulated gene in Xenopus laevis. This protein and Nocturnin protein share similarity with the C-terminal domain of a yeast transcription factor, carbon catabolite repression 4 (CCR4). The mRNA abundance of a similar gene in mouse has been shown to exhibit circadian rhythmicity, which suggests a role for this protein in clock function or as a circadian clock effector. [provided by RefSeq, Jul 2008]
NOD1	chr7	30424527	30478784	-	ENSG00000106100.10	protein_coding	CARD4|CLR7.1|NLRC1	7p14.3	nucleotide binding oligomerization domain containing 1	This gene encodes a member of the nucleotide-binding oligomerization domain (NOD)-like receptor (NLR) family of proteins. The encoded protein plays a role in innate immunity by acting as a pattern-recognition receptor (PRR) that binds bacterial peptidoglycans and initiates inflammation. This protein has also been implicated in the immune response to viral and parasitic infection. Major structural features of this protein include an N-terminal caspase recruitment domain (CARD), a centrally located nucleotide-binding domain (NBD), and 10 tandem leucine-rich repeats (LRRs) in its C terminus. The CARD is involved in apoptotic signaling, LRRs participate in protein-protein interactions, and mutations in the NBD may affect the process of oligomerization and subsequent function of the LRR domain. Mutations in this gene are associated with asthma, inflammatory bowel disease, Behcet disease and sarcoidosis in human patients. [provided by RefSeq, Aug 2017]
NOD2	chr16	50693603	50733077	+	ENSG00000167207.11	protein_coding	ACUG|BLAU|BLAUS|CARD15|CD|CLR16.3|IBD1|NLRC2|NOD2B|PSORAS1|YAOS	16q12.1	nucleotide binding oligomerization domain containing 2	This gene is a member of the Nod1/Apaf-1 family and encodes a protein with two caspase recruitment (CARD) domains and six leucine-rich repeats (LRRs). The protein is primarily expressed in the peripheral blood leukocytes. It plays a role in the immune response to intracellular bacterial lipopolysaccharides (LPS) by recognizing the muramyl dipeptide (MDP) derived from them and activating the NFKB protein. Mutations in this gene have been associated with Crohn disease and Blau syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
NODAL	chr10	70432315	70447951	-	ENSG00000156574.9	protein_coding	HTX5	10q22.1	nodal growth differentiation factor	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which regulates early embryonic development. This protein is required for maintenance of human embryonic stem cell pluripotency and may play a role in human placental development. Mutations in this gene are associated with heterotaxy, a condition characterized by random orientation of visceral organs with respect to the left-right axis. [provided by RefSeq, Aug 2016]
NOG	chr17	56593699	56595590	+	ENSG00000183691.4	protein_coding	SYM1|SYNS1|SYNS1A	17q22	noggin	The secreted polypeptide, encoded by this gene, binds and inactivates members of the transforming growth factor-beta (TGF-beta) superfamily signaling proteins, such as bone morphogenetic protein-4 (BMP4). By diffusing through extracellular matrices more efficiently than members of the TGF-beta superfamily, this protein may have a principal role in creating morphogenic gradients. The protein appears to have pleiotropic effect, both early in development as well as in later stages. It was originally isolated from Xenopus based on its ability to restore normal dorsal-ventral body axis in embryos that had been artificially ventralized by UV treatment. The results of the mouse knockout of the ortholog suggest that it is involved in numerous developmental processes, such as neural tube fusion and joint formation. Recently, several dominant human NOG mutations in unrelated families with proximal symphalangism (SYM1) and multiple synostoses syndrome (SYNS1) were identified; both SYM1 and SYNS1 have multiple joint fusion as their principal feature, and map to the same region (17q22) as this gene. All of these mutations altered evolutionarily conserved amino acid residues. The amino acid sequence of this human gene is highly homologous to that of Xenopus, rat and mouse. [provided by RefSeq, Jul 2008]
NOL10	chr2	10570766	10689987	-	ENSG00000115761.15	protein_coding	PQBP5	2p25.1	nucleolar protein 10	Ubiquitous expression in testis (RPKM 4.5), adrenal (RPKM 4.0) and 25 other tissues
NOL12	chr22	37681673	37693478	+	ENSG00000273899.4	protein_coding	Nop25|dJ37E16.7	22q13.1	nucleolar protein 12	Ubiquitous expression in testis (RPKM 6.5), skin (RPKM 5.0) and 25 other tissues
NOL3	chr16	67170154	67175735	+	ENSG00000140939.14	protein_coding	ARC|FCM|MYOCL1|MYP|NOP|NOP30	16q22.1	nucleolar protein 3	This gene encodes an anti-apoptotic protein that has been shown to down-regulate the enzyme activities of caspase 2, caspase 8 and tumor protein p53. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
NOL4L	chr20	32443059	32585074	-	ENSG00000197183.14	protein_coding	C20orf112|C20orf113	20q11.21	nucleolar protein 4 like	Broad expression in testis (RPKM 8.2), small intestine (RPKM 6.1) and 25 other tissues
NOL6	chr9	33461441	33473930	-	ENSG00000165271.16	protein_coding	NRAP|UTP22|bA311H10.1	9p13.3	nucleolar protein 6	The nucleolus is a dense subnuclear membraneless organelle that assembles around clusters of rRNA genes and functions in ribosome biogenesis. This gene encodes a nucleolar RNA-associated protein that is highly conserved between species. RNase treatment of permeabilized cells indicates that the nucleolar localization is RNA dependent. Further studies suggest that the protein is associated with ribosome biogenesis through an interaction with pre-rRNA primary transcripts. Alternative splicing has been observed at this locus and two splice variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
NOL7	chr6	13615327	13632739	+	ENSG00000225921.6	protein_coding	C6orf90|PQBP3|RARG-1|dJ223E5.2	6p23	nucleolar protein 7	The protein encoded by this gene localizes to the nucleolus, where it maintains nucleolar structure and cell growth rates. The encoded protein also functions as a tumor suppressor and regulator of angiogenesis. The RB tumor suppressor gene recruits transcription factors to this gene and positively regulates its expression. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]
NOL8	chr9	92297358	92325636	-	ENSG00000198000.11	protein_coding	C9orf34|NOP132|bA62C3.3|bA62C3.4	9q22.31	nucleolar protein 8	NOL8 binds Ras-related GTP-binding proteins (see MIM 608267) and plays a role in cell growth (Sekiguchi et al., 2004 [PubMed 14660641]).[supplied by OMIM, Mar 2008]
NOL9	chr1	6521347	6554535	-	ENSG00000162408.10	protein_coding	Grc3|NET6	1p36.31	nucleolar protein 9	Ubiquitous expression in spleen (RPKM 3.0), bone marrow (RPKM 2.3) and 25 other tissues
NOLC1	chr10	102152176	102163871	+	ENSG00000166197.16	protein_coding	NOPP130|NOPP140|NS5ATP13|P130|Srp40	10q24.32	nucleolar and coiled-body phosphoprotein 1	Ubiquitous expression in brain (RPKM 23.0), thyroid (RPKM 22.8) and 25 other tissues
NOMO1	chr16	14833681	14896160	+	ENSG00000103512.14	protein_coding	Nomo|PM5	16p13.11	NODAL modulator 1	This gene encodes a protein originally thought to be related to the collagenase gene family. This gene is one of three highly similar genes in a region of duplication located on the p arm of chromosome 16. These three genes encode closely related proteins that may have the same function. The protein encoded by one of these genes has been identified as part of a protein complex that participates in the Nodal signaling pathway during vertebrate development. Mutations in ABCC6, which is located nearby, rather than mutations in this gene are associated with pseudoxanthoma elasticum (PXE). [provided by RefSeq, Jul 2008]
NONOP2	chr2	60936819	60938049	-	ENSG00000237522.1	processed_pseudogene	-	2p16.1	non-POU domain containing, octamer-binding pseudogene 2	-
NOP10	chr15	34341713	34343177	-	ENSG00000182117.5	protein_coding	DKCB1|NOLA3|NOP10P	15q14	NOP10 ribonucleoprotein	This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the DKC1, NOLA1 and NOLA2 proteins. These four H/ACA snoRNP proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nop10p. [provided by RefSeq, Jul 2008]
NOP14	chr4	2937933	2963385	-	ENSG00000087269.15	protein_coding	C4orf9|NOL14|RES4-25|RES425|UTP2	4p16.3	NOP14 nucleolar protein	This gene encodes a protein that plays a role in pre-18s rRNA processing and small ribosomal subunit assembly. The encoded protein may be involved in the regulation of pancreatic cancer cell proliferation and migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
NOP14-AS1	chr4	2934899	2961738	+	ENSG00000249673.6	antisense	C4orf10|RES4-24	4p16.3	NOP14 antisense RNA 1	Ubiquitous expression in brain (RPKM 4.1), thyroid (RPKM 3.6) and 25 other tissues
NOP16	chr5	176383938	176388975	-	ENSG00000048162.20	protein_coding	HSPC111|HSPC185	5q35.2	NOP16 nucleolar protein	This gene encodes a protein that is localized to the nucleolus. Expression of this gene is induced by estrogens and Myc protein and is a marker of poor patient survival in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
NOP53	chr19	 47745546	47757058	+	ENSG00000105373	protein-coding	GLTSCR2|PICT-1|PICT1	19q13.33	NOP53 ribosome biogenesis factor	Ubiquitous expression in ovary (RPKM 175.8), spleen (RPKM 136.0) and 25 other tissues
NOP56P1	chr6	28783633	28784004	-	ENSG00000235559.1	processed_pseudogene	NOL5B|NOL5BP|NOP56-L|dJ207F6.1	6p22.1	NOP56 ribonucleoprotein pseudogene 1	-
NOP58	chr2	202265716	202303666	+	ENSG00000055044.10	protein_coding	HSPC120|NOP5|NOP5/NOP58	2q33.1	NOP58 ribonucleoprotein	The protein encoded by this gene is a core component of box C/D small nucleolar ribonucleoproteins. Some box C/D small nucleolar RNAs (snoRNAs), such as U3, U8, and U14, are dependent upon the encoded protein for their synthesis. This protein is SUMOylated, which is necessary for high affinity binding to snoRNAs. [provided by RefSeq, Nov 2015]
NOP9	chr14	24299862	24309124	+	ENSG00000196943.12	protein_coding	C14orf21	14q12	NOP9 nucleolar protein	Ubiquitous expression in duodenum (RPKM 25.7), liver (RPKM 25.0) and 25 other tissues
NORAD	chr20	36045622	36050960	-	ENSG00000260032.1	lincRNA	LINC00657	20q11.23	non-coding RNA activated by DNA damage	-
NOS1AP	chr1	162069774	162370475	+	ENSG00000198929.12	protein_coding	6330408P19Rik|CAPON|NPHS22	1q23.3	nitric oxide synthase 1 adaptor protein	This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminal PDZ-binding domain that mediates interactions with nNOS and an N-terminal phosphotyrosine binding (PTB) domain that binds to the small monomeric G protein, Dexras1. Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking nNOS to specific targets, such as Dexras1 and the synapsins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2009]
NOS2P2	chr17	18497095	18506313	-	ENSG00000167494.9	transcribed_unprocessed_pseudogene	NOS2B	17p11.2	nitric oxide synthase 2 pseudogene 2	-
NOS2P3	chr17	20436337	20447249	+	ENSG00000230528.7	transcribed_unprocessed_pseudogene	-	17p11.2	nitric oxide synthase 2 pseudogene 3	-
NOS2P4	chr17	16812447	16812651	+	ENSG00000264892.1	processed_pseudogene	-	17p11.2	nitric oxide synthase 2 pseudogene 4	-
NOS3	chr7	150990995	151014588	+	ENSG00000164867.10	protein_coding	ECNOS|eNOS	7q36.1	nitric oxide synthase 3	Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]
NOSIP	chr19	49555711	49590262	-	ENSG00000142546.13	protein_coding	CGI-25	19q13.33	nitric oxide synthase interacting protein	The protein encoded by this gene may modulate the activity and localization of nitric oxide synthase (endothelial and neuronal) and thus nitric oxide production. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2012]
NOSTRIN	chr2	168786539	168865514	+	ENSG00000163072.15	protein_coding	DaIP2	2q24.3	nitric oxide synthase trafficking	Nitric oxide (NO) is a potent mediator in biologic processes such as neurotransmission, inflammatory response, and vascular homeostasis. NOSTRIN binds the enzyme responsible for NO production, endothelial NO synthase (ENOS; MIM 163729), and triggers the translocation of ENOS from the plasma membrane to vesicle-like subcellular structures, thereby attenuating ENOS-dependent NO production.[supplied by OMIM, Apr 2004]
NOTCH1	chr9	136494444	136545862	-	ENSG00000148400.9	protein_coding	AOS5|AOVD1|TAN1|hN1	9q34.3	notch receptor 1	This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016]
NOTCH2	chr1	119911553	120069626	-	ENSG00000134250.19	protein_coding	AGS2|HJCYS|hN2	1p12	notch receptor 2	This gene encodes a member of the Notch family. Members of this Type 1 transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple, different domain types. Notch family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
NOTCH2NLA	chr1	 146148865	146229021	-	ENSG00000264343	protein-coding	N2N|NOTCH2NL	1q21.1	notch 2 N-terminal like A	Ubiquitous expression in testis (RPKM 12.1), skin (RPKM 6.6) and 25 other tissues
NOTCH4	chr6	32194843	32224067	-	ENSG00000204301.6	protein_coding	INT3	6p21.32	notch receptor 4	This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor may play a role in vascular, renal and hepatic development. Mutations in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
NOTUM	chr17	81952507	81961840	-	ENSG00000185269.11	protein_coding	hNOTUM	17q25.3	notum, palmitoleoyl-protein carboxylesterase	Restricted expression toward placenta (RPKM 82.6)
NOVA1	chr14	26443093	26597754	-	ENSG00000139910.19	protein_coding	Nova-1	14q12	NOVA alternative splicing regulator 1	This gene encodes a neuron-specific RNA-binding protein, a member of the Nova family of paraneoplastic disease antigens, that is recognized and inhibited by paraneoplastic antibodies. These antibodies are found in the sera of patients with paraneoplastic opsoclonus-ataxia, breast cancer, and small cell lung cancer. Alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
NOVA1-DT	chr14	 26598647	26806467	+	ENSG00000257842	ncRNA	C14orf22|LINC02588|NOVA1-AS1	14q12	NOVA1 divergent transcript	-
NOVA2	chr19	45933734	45973546	-	ENSG00000104967.6	protein_coding	ANOVA|NEDASB|NOVA-2|NOVA3	19q13.32	NOVA alternative splicing regulator 2	Enables sequence-specific mRNA binding activity. Involved in neuron differentiation and regulation of alternative mRNA splicing, via spliceosome. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
NOX4	chr11	89324356	89498187	-	ENSG00000086991.12	protein_coding	KOX|KOX-1|RENOX	11q14.3	NADPH oxidase 4	This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]
NOXA1	chr9	137423350	137434406	+	ENSG00000188747.8	protein_coding	NY-CO-31|SDCCAG31|p51NOX	9q34.3	NADPH oxidase activator 1	This gene encodes a protein which activates NADPH oxidases, enzymes which catalyze a reaction generating reactive oxygen species. The encoded protein contains four N-terminal tetratricopeptide domains and a C-terminal Src homology 3 domain. Interaction between the encoded protein and proteins in the oxidase regulatory complex occur via the tetratricopeptide domains. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
NOXRED1	chr14	77394021	77423517	-	ENSG00000165555.9	protein_coding	C14orf148	14q24.3	NADP dependent oxidoreductase domain containing 1	Broad expression in testis (RPKM 2.5), thyroid (RPKM 0.4) and 15 other tissues
NPAS2	chr2	100820152	100996829	+	ENSG00000170485.16	protein_coding	MOP4|PASD4|bHLHe9	2q11.2	neuronal PAS domain protein 2	The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. A similar mouse protein may play a regulatory role in the acquisition of specific types of memory. It also may function as a part of a molecular clock operative in the mammalian forebrain. [provided by RefSeq, Jul 2008]
NPAS3	chr14	32934933	33804176	+	ENSG00000151322.18	protein_coding	MOP6|PASD6|bHLHe12	14q13.1	neuronal PAS domain protein 3	This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the coding potential of this gene are associated with schizophrenia and cognitive disability. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
NPAS4	chr11	66421004	66426707	+	ENSG00000174576.9	protein_coding	Le-PAS|NXF|PASD10|bHLHe79	11q13.2	neuronal PAS domain protein 4	NXF is a member of the basic helix-loop-helix-PER (MIM 602260)-ARNT (MIM 126110)-SIM (see SIM2; MIM 600892) (bHLH-PAS) class of transcriptional regulators, which are involved in a wide range of physiologic and developmental events (Ooe et al., 2004 [PubMed 14701734]).[supplied by OMIM, Mar 2008]
NPAT	chr11	108157215	108222642	-	ENSG00000149308.16	protein_coding	E14|E14/NPAT|p220	11q22.3	nuclear protein, coactivator of histone transcription	Ubiquitous expression in lymph node (RPKM 6.0), spleen (RPKM 3.9) and 25 other tissues
NPBWR1	chr8	52938431	52941117	+	ENSG00000183729.3	protein_coding	GPR7	8q11.23	neuropeptides B and W receptor 1	-
NPC1	chr18	23506184	23586898	-	ENSG00000141458.12	protein_coding	NPC|POGZ|SLC65A1	18q11.2	NPC intracellular cholesterol transporter 1	This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]
NPC1L1	chr7	44512535	44541315	-	ENSG00000015520.14	protein_coding	LDLCQ7|NPC11L1|SLC65A2	7p13	NPC1 like intracellular cholesterol transporter 1	The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in other proteins. This protein takes up free cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
NPC2	chr14	74476192	74494177	-	ENSG00000119655.10	protein_coding	EDDM1|HE1	14q24.3	NPC intracellular cholesterol transporter 2	This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]
NPDC1	chr9	137039470	137046203	-	ENSG00000107281.9	protein_coding	CAB|CAB-|CAB-1|CAB1|NPDC-1	9q34.3	neural proliferation, differentiation and control 1	Broad expression in prostate (RPKM 64.4), stomach (RPKM 34.1) and 22 other tissues
NPEPL1	chr20	58689131	58719238	+	ENSG00000215440.11	protein_coding	bA261P9.2	20q13.32	aminopeptidase like 1	Ubiquitous expression in fat (RPKM 17.5), spleen (RPKM 15.8) and 25 other tissues
NPEPPS	chr17	47522942	47623276	+	ENSG00000141279.15	protein_coding	AAP-S|MP100|PSA	17q21.32	aminopeptidase puromycin sensitive	This gene encodes the puromycin-sensitive aminopeptidase, a zinc metallopeptidase which hydrolyzes amino acids from the N-terminus of its substrate. The protein has been localized to both the cytoplasm and to cellular membranes. This enzyme degrades enkaphalins in the brain, and studies in mouse suggest that it is involved in proteolytic events regulating the cell cycle. [provided by RefSeq, Jul 2008]
NPHP3	chr3	132680609	132722442	-	ENSG00000113971.19	protein_coding	CFAP31|MKS7|NPH3|RHPD|RHPD1|SLSN3	3q22.1	nephrocystin 3	This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]
NPHP4	chr1	5862811	5992473	-	ENSG00000131697.17	protein_coding	POC10|SLSN4	1p36.31	nephrocystin 4	This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
NPIPA1	chr16	14922802	14952060	+	ENSG00000183426.16	protein_coding	NPIP|NPIPA|morpheus	16p13.11	nuclear pore complex interacting protein family member A1	Ubiquitous expression in skin (RPKM 56.3), ovary (RPKM 53.3) and 25 other tissues
NPIPA2	chr16	14748066	14765413	+	ENSG00000254852.8	protein_coding	NPIP|NPIPA1	16p13.11	nuclear pore complex interacting protein family member A2	Ubiquitous expression in skin (RPKM 20.2), testis (RPKM 15.4) and 25 other tissues
NPIPA3	chr16	14708944	14726338	+	ENSG00000224712.12	protein_coding	-	16p13.11	nuclear pore complex interacting protein family member A3	-
NPIPA5	chr16	15363624	15381047	-	ENSG00000183793.13	protein_coding	NPIP	16p13.11	nuclear pore complex interacting protein family member A5	Ubiquitous expression in skin (RPKM 40.1), ovary (RPKM 32.3) and 25 other tissues
NPIPA7	chr16	16379055	16393954	+	ENSG00000214967.5	protein_coding	NPIPA8	16p13.11	nuclear pore complex interacting protein family member A7	Ubiquitous expression in skin (RPKM 37.5), ovary (RPKM 28.3) and 25 other tissues
NPIPB11	chr16	29381354	29404029	-	ENSG00000254206.5	protein_coding	NPIP	16p11.2	nuclear pore complex interacting protein family member B11	Ubiquitous expression in skin (RPKM 25.8), bone marrow (RPKM 16.9) and 24 other tissues
NPIPB12	chr16	29483642	29505999	-	ENSG00000169203.16	protein_coding	-	16p11.2	nuclear pore complex interacting protein family member B12	-
NPIPB13	chr16	30222937	30254510	-	ENSG00000198064.13	protein_coding	-	16p11.2	nuclear pore complex interacting protein family, member B13	Ubiquitous expression in skin (RPKM 20.3), bone marrow (RPKM 13.4) and 24 other tissues
NPIPB14P	chr16	69976388	69996188	-	ENSG00000226232.8	transcribed_unprocessed_pseudogene	-	16q22.1	nuclear pore complex interacting protein family member B14, pseudogene	-
NPIPB15	chr16	74377878	74392080	+	ENSG00000196436.8	protein_coding	A-761H5.4|NPIPL2	16q23.1	nuclear pore complex interacting protein family member B15	Broad expression in testis (RPKM 17.7), skin (RPKM 3.0) and 23 other tissues
NPIPB3	chr16	21402237	21448567	-	ENSG00000169246.16	protein_coding	KIAA0220L|NPIP|NPIPB|NPIPB5|NPIPL3	16p12.2	nuclear pore complex interacting protein family member B3	Ubiquitous expression in skin (RPKM 36.9), bone marrow (RPKM 26.9) and 24 other tissues
NPIPB4	chr16	21834569	21880827	-	ENSG00000185864.16	protein_coding	61E3.4	16p12.2	nuclear pore complex interacting protein family member B4	Ubiquitous expression in skin (RPKM 29.6), bone marrow (RPKM 21.2) and 24 other tissues
NPIPB5	chr16	22479121	22536521	+	ENSG00000243716.10	protein_coding	-	16p12.2	nuclear pore complex interacting protein family member B5	-
NPIPB6	chr16	28342555	28363508	-	ENSG00000198156.10	protein_coding	NPIPB	16p12.1	nuclear pore complex interacting protein family member B6	Broad expression in testis (RPKM 11.9), skin (RPKM 4.0) and 22 other tissues
NPIPB7	chr16	28456372	28471175	-	ENSG00000233232.6	protein_coding	A-575C2.4|A-761H5.5|NPIPL1	16p12.1	nuclear pore complex interacting protein family member B7	Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
NPIPB8	chr16	28637654	28658682	+	ENSG00000255524.7	protein_coding	-	16p11.2	nuclear pore complex interacting protein family member B8	-
NPIPB9	chr16	28751787	28772807	+	ENSG00000196993.8	protein_coding	-	16p11.2	nuclear pore complex interacting protein family member B9	-
NPIPP1	chr16	15104312	15123498	-	ENSG00000188599.17	transcribed_unprocessed_pseudogene	-	16p13.11	nuclear pore complex interacting protein pseudogene 1	-
NPL	chr1	182789293	182830384	+	ENSG00000135838.13	protein_coding	C112|C1orf13|NAL|NPL1	1q25.3	N-acetylneuraminate pyruvate lyase	This gene encodes a member of the N-acetylneuraminate lyase sub-family of (beta/alpha)(8)-barrel enzymes. N-acetylneuraminate lyases regulate cellular concentrations of N-acetyl-neuraminic acid (sialic acid) by mediating the reversible conversion of sialic acid into N-acetylmannosamine and pyruvate. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
NPLOC4	chr17	81556887	81648465	-	ENSG00000182446.13	protein_coding	NPL4	17q25.3	NPL4 homolog, ubiquitin recognition factor	Ubiquitous expression in testis (RPKM 14.2), esophagus (RPKM 10.3) and 25 other tissues
NPM1	chr5	171387116	171411137	+	ENSG00000181163.13	protein_coding	B23|NPM	5q35.1	nucleophosmin 1	The protein encoded by this gene is involved in several cellular processes, including centrosome duplication, protein chaperoning, and cell proliferation. The encoded phosphoprotein shuttles between the nucleolus, nucleus, and cytoplasm, chaperoning ribosomal proteins and core histones from the nucleus to the cytoplasm. This protein is also known to sequester the tumor suppressor ARF in the nucleolus, protecting it from degradation until it is needed. Mutations in this gene are associated with acute myeloid leukemia. Dozens of pseudogenes of this gene have been identified. [provided by RefSeq, Aug 2017]
NPM1P19	chr20	38977711	38978422	-	ENSG00000223864.1	processed_pseudogene	-	20q11.23	nucleophosmin 1 pseudogene 19	-
NPM1P21	chr8	56101199	56102267	-	ENSG00000248578.1	processed_pseudogene	-	8q12.1	nucleophosmin 1 pseudogene 21	-
NPM1P31	chr10	124867510	124868326	+	ENSG00000214807.2	processed_pseudogene	-	10q26.13	nucleophosmin 1 pseudogene 31	-
NPM1P39	chr1	27206930	27207796	+	ENSG00000225159.1	processed_pseudogene	-	1p36.11	nucleophosmin 1 pseudogene 39	-
NPM1P46	chr2	197379701	197380892	-	ENSG00000213104.3	processed_pseudogene	-	2q33.1	nucleophosmin 1 pseudogene 46	-
NPM1P47	chr15	62082450	62083305	-	ENSG00000259466.1	processed_pseudogene	-	15q22.2	nucleophosmin 1 pseudogene 47	-
NPM1P50	chr11	75079265	75080131	-	ENSG00000213333.3	processed_pseudogene	-	11q13.4	nucleophosmin 1 pseudogene 50	-
NPM1P51	chr6	41666906	41667649	+	ENSG00000230913.1	processed_pseudogene	-	6p21.1	nucleophosmin 1 pseudogene 51	-
NPM2	chr8	22024125	22036897	+	ENSG00000158806.13	protein_coding	-	8p21.3	nucleophosmin/nucleoplasmin 2	-
NPM3	chr10	101781325	101783413	-	ENSG00000107833.10	protein_coding	PORMIN|TMEM123	10q24.32	nucleophosmin/nucleoplasmin 3	The protein encoded by this gene is related to the nuclear chaperone phosphoproteins, nucleoplasmin and nucleophosmin. This protein is strongly expressed in diverse cell types where it localizes primarily to the nucleus. Based on its similarity to nucleoplasmin and nucleophosmin, this protein likely functions as a molecular chaperone in the cell nucleus. [provided by RefSeq, Oct 2008]
NPNT	chr4	105894775	106004027	+	ENSG00000168743.12	protein_coding	EGFL6L|POEM	4q24	nephronectin	Biased expression in thyroid (RPKM 91.1), lung (RPKM 60.2) and 10 other tissues
NPPA	chr1	11845709	11848345	-	ENSG00000175206.10	protein_coding	ANF|ANP|ATFB6|ATRST2|CDD|CDD-ANF|CDP|PND	1p36.22	natriuretic peptide A	The protein encoded by this gene belongs to the natriuretic peptide family. Natriuretic peptides are implicated in the control of extracellular fluid volume and electrolyte homeostasis. This protein is synthesized as a large precursor (containing a signal peptide), which is processed to release a peptide from the N-terminus with similarity to vasoactive peptide, cardiodilatin, and another peptide from the C-terminus with natriuretic-diuretic activity. Mutations in this gene have been associated with atrial fibrillation familial type 6. This gene is located adjacent to another member of the natriuretic family of peptides on chromosome 1. [provided by RefSeq, Oct 2015]
NPPA-AS1	chr1	11841017	11848079	+	ENSG00000242349.5	antisense	NPPA-AS|NPPAAS	1p36.22	NPPA antisense RNA 1	Biased expression in heart (RPKM 639.8) and testis (RPKM 10.8)
NPPB	chr1	11857464	11858931	-	ENSG00000120937.8	protein_coding	BNP|Iso-ANP	1p36.22	natriuretic peptide B	This gene is a member of the natriuretic peptide family and encodes a secreted protein which functions as a cardiac hormone. The protein undergoes two cleavage events, one within the cell and a second after secretion into the blood. The proteins biological actions include natriuresis, diuresis, vasorelaxation, inhibition of renin and aldosterone secretion, and a key role in cardiovascular homeostasis. A high concentration of this protein in the bloodstream is indicative of heart failure. The presence of myocardial injury is a significant predictor of mortality in hospitalized coronavirus disease 2019 (COVID-19) patients, and there is evidence of increased levels of natriuretic peptide B in hospitalized non-survivor COVID-19 patients. The protein also acts as an antimicrobial peptide with antibacterial and antifungal activity. Mutations in this gene have been associated with postmenopausal osteoporosis. [provided by RefSeq, Aug 2020]
NPPC	chr2	231921820	231926403	-	ENSG00000163273.3	protein_coding	CNP|CNP2	2q37.1	natriuretic peptide C	This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the cardiac natriuretic peptides CNP-53, CNP-29 and CNP-22, which belong to the natriuretic family of peptides. The encoded peptides exhibit vasorelaxation activity in laboratory animals and elevated levels of CNP-22 have been observed in the plasma of chronic heart failure patients. [provided by RefSeq, Oct 2015]
NPR1	chr1	153678637	153693992	+	ENSG00000169418.9	protein_coding	ANPRA|ANPa|GUC2A|GUCY2A|NPRA	1q21.3	natriuretic peptide receptor 1	Guanylyl cyclases, catalyzing the production of cGMP from GTP, are classified as soluble and membrane forms (Garbers and Lowe, 1994 [PubMed 7982997]). The membrane guanylyl cyclases, often termed guanylyl cyclases A through F, form a family of cell-surface receptors with a similar topographic structure: an extracellular ligand-binding domain, a single membrane-spanning domain, and an intracellular region that contains a protein kinase-like domain and a cyclase catalytic domain. GC-A and GC-B function as receptors for natriuretic peptides; they are also referred to as atrial natriuretic peptide receptor A (NPR1) and type B (NPR2; MIM 108961). Also see NPR3 (MIM 108962), which encodes a protein with only the ligand-binding transmembrane and 37-amino acid cytoplasmic domains. NPR1 is a membrane-bound guanylate cyclase that serves as the receptor for both atrial and brain natriuretic peptides (ANP (MIM 108780) and BNP (MIM 600295), respectively).[supplied by OMIM, May 2009]
NPR2	chr9	35792154	35809732	+	ENSG00000159899.14	protein_coding	AMDM|ANPRB|ANPb|ECDM|GC-B|GCB|GUC2B|GUCY2B|NPRB|NPRBi|SNSK	9p13.3	natriuretic peptide receptor 2	This gene encodes natriuretic peptide receptor B, one of two integral membrane receptors for natriuretic peptides. Both NPR1 and NPR2 contain five functional domains: an extracellular ligand-binding domain, a single membrane-spanning region, and intracellularly a protein kinase homology domain, a helical hinge region involved in oligomerization, and a carboxyl-terminal guanylyl cyclase catalytic domain. The protein is the primary receptor for C-type natriuretic peptide (CNP), which upon ligand binding exhibits greatly increased guanylyl cyclase activity. Mutations in this gene are the cause of acromesomelic dysplasia Maroteaux type. [provided by RefSeq, Jul 2008]
NPR3	chr5	32689070	32791724	+	ENSG00000113389.15	protein_coding	ANP-C|ANPR-C|ANPRC|BOMOS|C5orf23|GUCY2B|NPR-C|NPRC	5p13.3	natriuretic peptide receptor 3	This gene encodes one of three natriuretic peptide receptors. Natriutetic peptides are small peptides which regulate blood volume and pressure, pulmonary hypertension, and cardiac function as well as some metabolic and growth processes. The product of this gene encodes a natriuretic peptide receptor responsible for clearing circulating and extracellular natriuretic peptides through endocytosis of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
NPRL2	chr3	50347330	50351091	-	ENSG00000114388.12	protein_coding	FFEVF2|NPR2|NPR2L|TUSC4	3p21.31	NPR2 like, GATOR1 complex subunit	Ubiquitous expression in lymph node (RPKM 7.6), ovary (RPKM 7.3) and 25 other tissues
NPRL3	chr16	84271	138860	-	ENSG00000103148.15	protein_coding	C16orf35|CGTHBA|FFEVF3|HS-40|MARE|NPR3|RMD11	16p13.3	NPR3 like, GATOR1 complex subunit	The function of the encoded protein is not known. [provided by RefSeq, Aug 2011]
NPSR1	chr7	34658239	34878332	+	ENSG00000187258.13	protein_coding	ASRT2|GPR154|GPRA|NPSR|PGR14|VRR1	7p14.3	neuropeptide S receptor 1	This gene encodes a member of the vasopressin/oxytocin subfamily of G protein-coupled receptors. The encoded membrane protein acts as a receptor for neuropeptide S and affects a variety of cellular processes through its signaling. Increased expression of this gene in ciliated cells of the respiratory epithelium and in bronchial smooth muscle cells is associated with asthma. Polymorphisms in this gene have also been associated with asthma susceptibility, panic disorders, inflammatory bowel disease, and rheumatoid arthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
NPTN	chr15	73560014	73634134	-	ENSG00000156642.16	protein_coding	GP55|GP65|SDFR1|SDR1|np55|np65	15q24.1	neuroplastin	This gene encodes a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be involved in cell-cell interactions or cell-substrate interactions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]
NPTX1	chr17	80467148	80477843	-	ENSG00000171246.5	protein_coding	NP1	17q25.3	neuronal pentraxin 1	NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exclusively localized to the nervous system. [provided by RefSeq, Jul 2008]
NPTXR	chr22	38818452	38843982	-	ENSG00000221890.3	protein_coding	NPR	22q13.1	neuronal pentraxin receptor	This gene encodes a protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an integral membrane protein that is thought to mediate neuronal uptake of the snake venom toxin, taipoxin, and its transport into the synapses. Studies in rat indicate that translation of this mRNA initiates at a non-AUG (CUG) codon. This may also be true for mouse and human, based on strong sequence conservation amongst these species. [provided by RefSeq, Jul 2008]
NPW	chr16	2009926	2020755	+	ENSG00000183971.6	protein_coding	L8|L8C|PPL8|PPNPW	16p13.3	neuropeptide W	The product of this gene is processed into 23- and 30-amino acid neuropeptides that bind and activate two G-protein coupled receptors in the central nervous system. The neuropeptides have been shown to enhance cortisol secretion from adrenal cells through the adenylate cyclase/protein kinase A signaling cascade. The preproprotein is translated using a non-AUG initiation codon that is inferred from analyses of the mouse ortholog. [provided by RefSeq, Jul 2008]
NPY	chr7	24284163	24291865	+	ENSG00000122585.7	protein_coding	PYY4	7p15.3	neuropeptide Y	This gene encodes a neuropeptide that is widely expressed in the central nervous system and influences many physiological processes, including cortical excitability, stress response, food intake, circadian rhythms, and cardiovascular function. The neuropeptide functions through G protein-coupled receptors to inhibit adenylyl cyclase, activate mitogen-activated protein kinase (MAPK), regulate intracellular calcium levels, and activate potassium channels. A polymorphism in this gene resulting in a change of leucine 7 to proline in the signal peptide is associated with elevated cholesterol levels, higher alcohol consumption, and may be a risk factor for various metabolic and cardiovascular diseases. The protein also exhibits antimicrobial activity against bacteria and fungi. [provided by RefSeq, Oct 2014]
NPY1R	chr4	163323961	163344832	-	ENSG00000164128.6	protein_coding	NPY1-R|NPYR	4q32.2	neuropeptide Y receptor Y1	This gene belongs to the G-protein-coupled receptor superfamily. The encoded transmembrane protein mediates the function of neuropeptide Y (NPY), a neurotransmitter, and peptide YY (PYY), a gastrointestinal hormone. The encoded receptor undergoes fast agonist-induced internalization through clathrin-coated pits and is subsequently recycled back to the cell membrane. Activation of Y1 receptors may result in mobilization of intracellular calcium and inhibition of adenylate cyclase activity. [provided by RefSeq, Aug 2013]
NPY5R	chr4	163343939	163351934	+	ENSG00000164129.11	protein_coding	NPY5-R|NPYR5|NPYY5-R	4q32.2	neuropeptide Y receptor Y5	The protein encoded by this gene is a receptor for neuropeptide Y and peptide YY. The encoded protein appears to be involved in regulating food intake, with defects in this gene being associated with eating disorders. Also, the encoded protein is involved in a pathway that protects neuroblastoma cells from chemotherapy-induced cell death, providing a possible therapeutic target against neuroblastoma. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2015]
NPY6R	chr5	137801193	137810751	+	ENSG00000226306.6	transcribed_processed_pseudogene	NPY1RL|NPY6RP|PP2|Y2B	5q31.2	neuropeptide Y receptor Y6 (pseudogene)	Predicted to enable pancreatic polypeptide receptor activity and peptide YY receptor activity. Predicted to be involved in neuropeptide signaling pathway. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
NQO1	chr16	69706996	69726951	-	ENSG00000181019.12	protein_coding	DHQU|DIA4|DTD|NMOR1|NMORI|QR1	16q22.1	NAD(P)H quinone dehydrogenase 1	This gene is a member of the NAD(P)H dehydrogenase (quinone) family and encodes a cytoplasmic 2-electron reductase. This FAD-binding protein forms homodimers and reduces quinones to hydroquinones. This proteins enzymatic activity prevents the one electron reduction of quinones that results in the production of radical species. Mutations in this gene have been associated with tardive dyskinesia (TD), an increased risk of hematotoxicity after exposure to benzene, and susceptibility to various forms of cancer. Altered expression of this protein has been seen in many tumors and is also associated with Alzheimers disease (AD). Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
NQO2	chr6	2987987	3028869	+	ENSG00000124588.19	protein_coding	DHQV|DIA6|NMOR2|QR2	6p25.2	N-ribosyldihydronicotinamide:quinone reductase 2	This gene encodes a member of the thioredoxin family of enzymes. It is a cytosolic and ubiquitously expressed flavoprotein that catalyzes the two-electron reduction of quinone substrates and uses dihydronicotinamide riboside as a reducing coenzyme. Mutations in this gene have been associated with neurodegenerative diseases and several cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
NR0B2	chr1	26911489	26913966	-	ENSG00000131910.4	protein_coding	SHP|SHP1	1p36.11	nuclear receptor subfamily 0 group B member 2	The protein encoded by this gene is an unusual orphan receptor that contains a putative ligand-binding domain but lacks a conventional DNA-binding domain. The gene product is a member of the nuclear hormone receptor family, a group of transcription factors regulated by small hydrophobic hormones, a subset of which do not have known ligands and are referred to as orphan nuclear receptors. The protein has been shown to interact with retinoid and thyroid hormone receptors, inhibiting their ligand-dependent transcriptional activation. In addition, interaction with estrogen receptors has been demonstrated, leading to inhibition of function. Studies suggest that the protein represses nuclear hormone receptor-mediated transactivation via two separate steps: competition with coactivators and the direct effects of its transcriptional repressor function. [provided by RefSeq, Jul 2008]
NR1D1	chr17	40092787	40100725	-	ENSG00000126368.5	protein_coding	EAR1|REVERBA|REVERBalpha|THRA1|THRAL|ear-1|hRev	17q21.1	nuclear receptor subfamily 1 group D member 1	This gene encodes a transcription factor that is a member of the nuclear receptor subfamily 1. The encoded protein is a ligand-sensitive transcription factor that negatively regulates the expression of core clock proteins. In particular this protein represses the circadian clock transcription factor aryl hydrocarbon receptor nuclear translocator-like protein 1 (ARNTL). This protein may also be involved in regulating genes that function in metabolic, inflammatory and cardiovascular processes. [provided by RefSeq, Jan 2013]
NR1D2	chr3	23945260	23980618	+	ENSG00000174738.12	protein_coding	BD73|EAR-1R|REVERBB|REVERBbeta|RVR	3p24.2	nuclear receptor subfamily 1 group D member 2	This gene encodes a member of the nuclear hormone receptor family, specifically the NR1 subfamily of receptors. The encoded protein functions as a transcriptional repressor and may play a role in circadian rhythms and carbohydrate and lipid metabolism. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
NR1H2	chr19	50329653	50382982	+	ENSG00000131408.13	protein_coding	LXR-b|LXRB|NER|NER-I|RIP15|UNR	19q13.33	nuclear receptor subfamily 1 group H member 2	The liver X receptors, LXRA (NR1H3; MIM 602423) and LXRB, form a subfamily of the nuclear receptor superfamily and are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. The inducible LXRA is highly expressed in liver, adrenal gland, intestine, adipose tissue, macrophages, lung, and kidney, whereas LXRB is ubiquitously expressed. Ligand-activated LXRs form obligate heterodimers with retinoid X receptors (RXRs; see MIM 180245) and regulate expression of target genes containing LXR response elements (summary by Korf et al., 2009 [PubMed 19436111]).[supplied by OMIM, Jan 2010]
NR1H3	chr11	47248300	47269032	+	ENSG00000025434.18	protein_coding	LXR-a|LXRA|RLD-1	11p11.2	nuclear receptor subfamily 1 group H member 3	The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. This protein is highly expressed in visceral organs, including liver, kidney and intestine. It forms a heterodimer with retinoid X receptor (RXR), and regulates expression of target genes containing retinoid response elements. Studies in mice lacking this gene suggest that it may play an important role in the regulation of cholesterol homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
NR1I2	chr3	119780484	119818485	+	ENSG00000144852.17	protein_coding	BXR|ONR1|PAR|PAR1|PAR2|PARq|PRR|PXR|SAR|SXR	3q13.33	nuclear receptor subfamily 1 group I member 2	This gene product belongs to the nuclear receptor superfamily, members of which are transcription factors characterized by a ligand-binding domain and a DNA-binding domain. The encoded protein is a transcriptional regulator of the cytochrome P450 gene CYP3A4, binding to the response element of the CYP3A4 promoter as a heterodimer with the 9-cis retinoic acid receptor RXR. It is activated by a range of compounds that induce CYP3A4, including dexamethasone and rifampicin. Several alternatively spliced transcripts encoding different isoforms, some of which use non-AUG (CUG) translation initiation codon, have been described for this gene. Additional transcript variants exist, however, they have not been fully characterized. [provided by RefSeq, Jul 2008]
NR2C2	chr3	14947584	15053600	+	ENSG00000177463.15	protein_coding	TAK1|TR4	3p25.1	nuclear receptor subfamily 2 group C member 2	This gene encodes a protein that belongs to the nuclear hormone receptor family. Members of this family act as ligand-activated transcription factors and function in many biological processes such as development, cellular differentiation and homeostasis. The activated receptor/ligand complex is translocated to the nucleus where it binds to hormone response elements of target genes. The protein encoded by this gene plays a role in protecting cells from oxidative stress and damage induced by ionizing radiation. The lack of a similar gene in mouse results in growth retardation, severe spinal curvature, subfertility, premature aging, and prostatic intraepithelial neoplasia (PIN) development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
NR2C2AP	chr19	19201416	19203424	-	ENSG00000184162.14	protein_coding	TRA16	19p13.11	nuclear receptor 2C2 associated protein	Ubiquitous expression in ovary (RPKM 9.3), skin (RPKM 8.7) and 25 other tissues
NR2E1	chr6	108166058	108188809	+	ENSG00000112333.11	protein_coding	TLL|TLX|XTLL	6q21	nuclear receptor subfamily 2 group E member 1	The protein encoded by this gene is an orphan receptor involved in retinal development. The encoded protein also regulates adult neural stem cell proliferation and may be involved in control of aggressive behavior. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
NR2E3	chr15	71792638	71818259	+	ENSG00000278570.4	protein_coding	ESCS|PNR|RNR|RP37|rd7	15q23	nuclear receptor subfamily 2 group E member 3	This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
NR2F1	chr5	93583337	93594615	+	ENSG00000175745.11	protein_coding	BBOAS|BBSOAS|COUP-TFI|COUPTF1|EAR-3|EAR3|ERBAL3|SVP44|TCFCOUP1|TFCOUP1	5q15	nuclear receptor subfamily 2 group F member 1	The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5-AGGTCA-3 repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014]
NR2F1-AS1	chr5	93409359	93585648	-	ENSG00000237187.8	antisense	-	5q15	NR2F1 antisense RNA 1	-
NR2F6	chr19	17231883	17245940	-	ENSG00000160113.5	protein_coding	EAR-2|EAR2|ERBAL2	19p13.11	nuclear receptor subfamily 2 group F member 6	Broad expression in colon (RPKM 27.8), stomach (RPKM 20.8) and 23 other tissues
NR3C1	chr5	143277931	143435512	-	ENSG00000113580.14	protein_coding	GCCR|GCR|GCRST|GR|GRL	5q31.3	nuclear receptor subfamily 3 group C member 1	This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011]
NR3C2	chr4	148078762	148444698	-	ENSG00000151623.14	protein_coding	MCR|MLR|MR|NR3C2VIT	4q31.23	nuclear receptor subfamily 3 group C member 2	This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
NR4A2	chr2	156324432	156342348	-	ENSG00000153234.13	protein_coding	HZF-3|NOT|NURR1|RNR1|TINUR	2q24.1	nuclear receptor subfamily 4 group A member 2	This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression. Misregulation of this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
NR5A2	chr1	200027602	200177424	+	ENSG00000116833.13	protein_coding	B1F|B1F2|CPF|FTF|FTZ-F1|FTZ-F1beta|LRH-1|LRH1|hB1F-2	1q32.1	nuclear receptor subfamily 5 group A member 2	The protein encoded by this gene is a DNA-binding zinc finger transcription factor and is a member of the fushi tarazu factor-1 subfamily of orphan nuclear receptors. The encoded protein is involved in the expression of genes for hepatitis B virus and cholesterol biosynthesis, and may be an important regulator of embryonic development. [provided by RefSeq, Jun 2016]
NR6A1	chr9	124517275	124771310	-	ENSG00000148200.16	protein_coding	CT150|GCNF|GCNF1|NR61|RTR|hGCNF|hRTR	9q33.3	nuclear receptor subfamily 6 group A member 1	This gene encodes an orphan nuclear receptor which is a member of the nuclear hormone receptor family. Its expression pattern suggests that it may be involved in neurogenesis and germ cell development. The protein can homodimerize and bind DNA, but in vivo targets have not been identified. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jun 2013]
NRADDP	chr3	47011542	47013146	+	ENSG00000236409.1	unitary_pseudogene	-	3p21.31	neurotrophin receptor associated death domain, pseudogene	-
NRAP	chr10	113588716	113664127	-	ENSG00000197893.13	protein_coding	N-RAP	10q25.3	nebulin related anchoring protein	Biased expression in heart (RPKM 131.4), prostate (RPKM 26.5) and 2 other tissues
NRARP	chr9	137300482	137302251	-	ENSG00000198435.3	protein_coding	-	9q34.3	NOTCH regulated ankyrin repeat protein	-
NRAS	chr1	114704469	114716894	-	ENSG00000213281.4	protein_coding	ALPS4|CMNS|N-ras|NCMS|NRAS1|NS6	1p13.2	NRAS proto-oncogene, GTPase	This is an N-ras oncogene encoding a membrane protein that shuttles between the Golgi apparatus and the plasma membrane. This shuttling is regulated through palmitoylation and depalmitoylation by the ZDHHC9-GOLGA7 complex. The encoded protein, which has intrinsic GTPase activity, is activated by a guanine nucleotide-exchange factor and inactivated by a GTPase activating protein. Mutations in this gene have been associated with somatic rectal cancer, follicular thyroid cancer, autoimmune lymphoproliferative syndrome, Noonan syndrome, and juvenile myelomonocytic leukemia. [provided by RefSeq, Jun 2011]
NRAV	chr12	120490328	120495940	-	ENSG00000248008.2	antisense	DYNLL1-AS1|DYNLL1AS1	12q24.31	negative regulator of antiviral response	Broad expression in testis (RPKM 19.7), thyroid (RPKM 5.6) and 21 other tissues
NRBF2	chr10	63133247	63155031	+	ENSG00000148572.15	protein_coding	COPR|COPR1|COPR2|NRBF-2	10q21.3	nuclear receptor binding factor 2	Ubiquitous expression in appendix (RPKM 10.9), placenta (RPKM 10.7) and 25 other tissues
NRBP1	chr2	27427790	27442259	+	ENSG00000115216.13	protein_coding	BCON3|MADM|MUDPNP|NRBP	2p23.3	nuclear receptor binding protein 1	Ubiquitous expression in esophagus (RPKM 41.1), testis (RPKM 38.5) and 25 other tissues
NRBP2	chr8	143833594	143840974	-	ENSG00000185189.17	protein_coding	TRG16|pp9320	8q24.3	nuclear receptor binding protein 2	Ubiquitous expression in brain (RPKM 18.8), skin (RPKM 17.7) and 25 other tissues
NRCAM	chr7	108147623	108456717	-	ENSG00000091129.19	protein_coding	-	7q31.1	neuronal cell adhesion molecule	Biased expression in brain (RPKM 36.1), adrenal (RPKM 15.3) and 5 other tissues
NRDC	chr1	51789191	51878937	-	ENSG00000078618.21	protein_coding	NRD1|hNRD1|hNRD2	1p32.3	nardilysin convertase	This gene encodes a zinc-dependent endopeptidase that cleaves peptide substrates at the N-terminus of arginine residues in dibasic moieties and is a member of the peptidase M16 family. This protein interacts with heparin-binding EGF-like growth factor and plays a role in cell migration and proliferation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
NRDE2	chr14	90267856	90332137	-	ENSG00000119720.17	protein_coding	C14orf102	14q32.11	NRDE-2, necessary for RNA interference, domain containing	Ubiquitous expression in duodenum (RPKM 3.4), thyroid (RPKM 3.4) and 25 other tissues
NREP	chr5	111662621	111997464	-	ENSG00000134986.13	protein_coding	C5orf13|D4S114|P311|PRO1873|PTZ17|SEZ17	5q22.1	neuronal regeneration related protein	Ubiquitous expression in brain (RPKM 38.4), placenta (RPKM 35.3) and 24 other tissues
NREP-AS1	chr5	111912508	112017309	+	ENSG00000250095.5	antisense	-	5q22.1	NREP antisense RNA 1	-
NRF1	chr7	129611714	129757082	+	ENSG00000106459.14	protein_coding	ALPHA-PAL	7q32.2	nuclear respiratory factor 1	This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternative splicing results in multiple transcript variants. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for nuclear factor (erythroid-derived 2)-like 1 which has an official symbol of NFE2L1. [provided by RefSeq, May 2014]
NRG1	chr8	31639386	32767959	+	ENSG00000157168.18	protein_coding	ARIA|GGF|GGF2|HGL|HRG|HRG1|HRGA|MST131|MSTP131|NDF|NRG1-IT2|SMDF	8p12	neuregulin 1	The protein encoded by this gene is a membrane glycoprotein that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are expressed in a tissue-specific manner and differ significantly in their structure, and are classified as types I, II, III, IV, V and VI. Dysregulation of this gene has been linked to diseases such as cancer, schizophrenia, and bipolar disorder (BPD). [provided by RefSeq, Apr 2016]
NRG2	chr5	139846779	140043299	-	ENSG00000158458.19	protein_coding	DON1|HRG2|NTAK	5q31.2	neuregulin 2	This gene encodes a novel member of the neuregulin family of growth and differentiation factors. Through interaction with the ERBB family of receptors, this protein induces the growth and differentiation of epithelial, neuronal, glial, and other types of cells. The gene consists of 12 exons and the genomic structure is similar to that of neuregulin 1, another member of the neuregulin family of ligands. The products of these genes mediate distinct biological processes by acting at different sites in tissues and eliciting different biological responses in cells. This gene is located close to the region for demyelinating Charcot-Marie-Tooth disease locus, but is not responsible for this disease. Alternative transcript variants encoding distinct isoforms have been described. [provided by RefSeq, May 2010]
NRG3	chr10	81875314	82987179	+	ENSG00000185737.12	protein_coding	HRG3|pro-NRG3	10q23.1	neuregulin 3	This gene is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified.[provided by RefSeq, Sep 2009]
NRG4	chr15	75935969	76059795	-	ENSG00000169752.16	protein_coding	HRG4	15q24.2	neuregulin 4	The neuregulins, including NRG4, activate type-1 growth factor receptors (see EGFR; MIM 131550) to initiating cell-to-cell signaling through tyrosine phosphorylation (Harari et al., 1999 [PubMed 10348342]).[supplied by OMIM, Mar 2008]
NRGN	chr11	124739846	124747210	+	ENSG00000154146.12	protein_coding	RC3|hng	11q24.2	neurogranin	Neurogranin (NRGN) is the human homolog of the neuron-specific rat RC3/neurogranin gene. This gene encodes a postsynaptic protein kinase substrate that binds calmodulin in the absence of calcium. The NRGN gene contains four exons and three introns. The exons 1 and 2 encode the protein and exons 3 and 4 contain untranslated sequences. It is suggested that the NRGN is a direct target for thyroid hormone in human brain, and that control of expression of this gene could underlay many of the consequences of hypothyroidism on mental states during development as well as in adult subjects. [provided by RefSeq, Jul 2008]
NRIP1	chr21	14961235	15065936	-	ENSG00000180530.10	protein_coding	CAKUT3|RIP140	21q11.2-q21.1	nuclear receptor interacting protein 1	Nuclear receptor interacting protein 1 (NRIP1) is a nuclear protein that specifically interacts with the hormone-dependent activation domain AF2 of nuclear receptors. Also known as RIP140, this protein modulates transcriptional activity of the estrogen receptor. [provided by RefSeq, Jul 2008]
NRIP2	chr12	2825348	2835544	-	ENSG00000053702.14	protein_coding	-	12p13.33	nuclear receptor interacting protein 2	-
NRIP3	chr11	8980576	9004049	-	ENSG00000175352.10	protein_coding	C11orf14|NY-SAR-105	11p15.4	nuclear receptor interacting protein 3	Biased expression in testis (RPKM 15.1), brain (RPKM 14.4) and 4 other tissues
NRK	chrX	105822543	105958610	+	ENSG00000123572.16	protein_coding	NESK	Xq22.3	Nik related kinase	The mouse ortholog of this gene encodes a protein kinase required for JNK activation. The encoded protein may be involved in the induction of actin polymerization in late embryogenesis.[provided by RefSeq, Jun 2010]
NRL	chr14	24080107	24115014	-	ENSG00000129535.12	protein_coding	D14S46E|NRL-MAF|RP27	14q11.2-q12	neural retina leucine zipper	This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases. [provided by RefSeq, Jul 2008]
NRM	chr6	30688047	30691420	-	ENSG00000137404.14	protein_coding	NRM29	6p21.33	nurim	The protein encoded by this gene contains transmembrane domains and resides within the inner nuclear membrane, where it is tightly associated with the nucleus. This protein shares homology with isoprenylcysteine carboxymethyltransferase enzymes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
NRN1	chr6	5997999	6007605	-	ENSG00000124785.8	protein_coding	NRN|dJ380B8.2	6p25.1	neuritin 1	This gene encodes a member of the neuritin family, and is expressed in postmitotic-differentiating neurons of the developmental nervous system and neuronal structures associated with plasticity in the adult. The expression of this gene can be induced by neural activity and neurotrophins. The encoded protein contains a consensus cleavage signal found in glycosylphoshatidylinositol (GPI)-anchored proteins. The encoded protein promotes neurite outgrowth and arborization, suggesting its role in promoting neuritogenesis. Overexpression of the encoded protein may be associated with astrocytoma progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
NRN1L	chr16	67884805	67888855	+	ENSG00000188038.7	protein_coding	MRCC2446|UNQ2446|cpg15-2	16q22.1	neuritin 1 like	The protein encoded by this gene is extracellular and enhances both neurite growth and neuronal survival. The encoded protein is found both as a GPI anchored membrane-bound form and as a secreted form. This activity-related ligand functions as a homodimer or heterodimer. [provided by RefSeq, Feb 2017]
NRP1	chr10	33177492	33336262	-	ENSG00000099250.17	protein_coding	BDCA4|CD304|NP1|NRP|VEGF165R	10p11.22	neuropilin 1	This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. This protein has also been determined to act as a co-receptor for SARS-CoV-2 (which causes COVID-19) to infect host cells. [provided by RefSeq, Nov 2020]
NRP2	chr2	205681990	205798133	+	ENSG00000118257.16	protein_coding	NP2|NPN2|PRO2714|VEGF165R2	2q33.3	neuropilin 2	This gene encodes a member of the neuropilin family of receptor proteins. The encoded transmembrane protein binds to SEMA3C protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C} and SEMA3F protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F}, and interacts with vascular endothelial growth factor (VEGF). This protein may play a role in cardiovascular development, axon guidance, and tumorigenesis. This protein has also been determined to act as a co-receptor for SARS-CoV-2 (which causes COVID-19) to infect host cells. [provided by RefSeq, Jul 2021]
NRROS	chr3	196639686	196662004	+	ENSG00000174004.5	protein_coding	ELLP3030|GARPL1|LRRC33|SENEBAC|UNQ3030	3q29	negative regulator of reactive oxygen species	Broad expression in bone marrow (RPKM 13.1), spleen (RPKM 8.2) and 22 other tissues
NRTN	chr19	5823802	5828324	+	ENSG00000171119.2	protein_coding	NTN	19p13.3	neurturin	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. A neurturin mutation has been described in a family with Hirschsprung Disease. [provided by RefSeq, Aug 2016]
NRXN2	chr11	64606174	64723188	-	ENSG00000110076.18	protein_coding	-	11q13.1	neurexin 2	Biased expression in brain (RPKM 25.4), testis (RPKM 3.9) and 2 other tissues
NRXN3	chr14	78170373	79868290	+	ENSG00000021645.18	protein_coding	C14orf60	14q24.3-q31.1	neurexin 3	This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants and protein isoforms for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. Genetic variation at this locus has been associated with a range of behavioral phenotypes, including alcohol dependence and autism spectrum disorder. [provided by RefSeq, Dec 2012]
NSA2	chr5	74766991	74780113	+	ENSG00000164346.9	protein_coding	CDK105|HCL-G1|HCLG1|HUSSY-29|HUSSY29|TINP1	5q13.3	NSA2 ribosome biogenesis factor	This gene encodes a nucleolar protein involved in cell cycle regulation and proliferation. This gene was identified based on sequence similarity to a highly conserved Saccharomyces cerevisiae gene encoding a pre-ribosomal protein, which is involved in large ribosomal subunit biogenesis. The encoded protein is found at elevated levels in diabetic nephropathy. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]
NSD1	chr5	177133025	177300215	+	ENSG00000165671.19	protein_coding	ARA267|KMT3B|SOTOS|SOTOS1|STO	5q35.3	nuclear receptor binding SET domain protein 1	This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]
NSD2	chr4	1871424	1982207	+	ENSG00000109685.17	protein_coding	KMT3F|KMT3G|MMSET|REIIBP|TRX5|WHS|WHSC1	4p16.3	nuclear receptor binding SET domain protein 2	This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not represented as reference sequences. [provided by RefSeq, Jul 2008]
NSD3	chr8	38269697	38382272	-	ENSG00000147548.16	protein_coding	KMT3F|KMT3G|WHISTLE|WHSC1L1|pp14328	8p11.23	nuclear receptor binding SET domain protein 3	This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described. [provided by RefSeq, May 2015]
NSF	chr17	46590669	46757464	+	ENSG00000073969.18	protein_coding	DEE96|SEC18|SKD2	17q21.31	N-ethylmaleimide sensitive factor, vesicle fusing ATPase	Broad expression in brain (RPKM 113.7), colon (RPKM 17.6) and 20 other tissues
NSFL1C	chr20	1442162	1473842	-	ENSG00000088833.17	protein_coding	P47|UBX1|UBXD10|UBXN2C|dJ776F14.1	20p13	NSFL1 cofactor	N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, May 2011]
NSFP1	chr17	46372855	46487141	+	ENSG00000260075.1	unprocessed_pseudogene	NSFP	17q21.31	N-ethylmaleimide-sensitive factor pseudogene 1	-
NSG1	chr4	4348140	4419058	+	ENSG00000168824.14	protein_coding	D4S234|D4S234E|NEEP21|P21	4p16.3	neuronal vesicle trafficking associated 1	Biased expression in skin (RPKM 37.1), prostate (RPKM 21.2) and 12 other tissues
NSG2	chr5	 174045706	174109179	+	ENSG00000170091	protein-coding	CALY3|HMP19	5q35.2	neuronal vesicle trafficking associated 2	Biased expression in brain (RPKM 115.2) and adrenal (RPKM 19.2)
NSL1	chr1	212726153	212791782	-	ENSG00000117697.14	protein_coding	C1orf48|DC8|MIS14	1q32.3	NSL1 component of MIS12 kinetochore complex	This gene encodes a protein with two coiled-coil domains that localizes to kinetochores, which are chromosome-associated structures that attach to microtubules and mediate chromosome movements during cell division. The encoded protein is part of a conserved protein complex that includes two chromodomain-containing proteins and a component of the outer plate of the kinetochore. This protein complex is proposed to bridge centromeric heterochromatin with the outer kinetochore structure. Multiple transcript variants encoding different isoforms have been found for this gene. There is a pseudogene of the 3 UTR region of this gene on chromosome X. [provided by RefSeq, Jul 2014]
NSMAF	chr8	58583504	58659844	-	ENSG00000035681.7	protein_coding	FAN|GRAMD5	8q12.1	neutral sphingomyelinase activation associated factor	This gene encodes a WD-repeat protein that binds the cytoplasmic sphingomyelinase activation domain of the 55kD tumor necrosis factor receptor. This protein is required for TNF-mediated activation of neutral sphingomyelinase and may play a role in regulating TNF-induced cellular responses such as inflammation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]
NSMCE1	chr16	27224991	27268794	-	ENSG00000169189.16	protein_coding	NSE1	16p12.1	NSE1 homolog, SMC5-SMC6 complex component	Ubiquitous expression in testis (RPKM 20.3), prostate (RPKM 15.1) and 25 other tissues
NSMCE2	chr8	125091679	125367120	+	ENSG00000156831.7	protein_coding	C8orf36|MMS21|NSE2|ZMIZ7	8q24.13	NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase	This gene encodes a member of a family of E3 small ubiquitin-related modifier (SUMO) ligases that mediates the attachment of a SUMO protein to proteins involved in nuclear transport, transcription, chromosome segregation and DNA repair. The encoded protein is part of the structural maintenance of chromosomes (SMC) 5/6 complex which plays a key role genome maintenance, facilitating chromosome segregation and suppressing mitotic recombination. A knockout of the orthologous mouse gene is lethal prior to embryonic day 10.5. Naturally occurring mutations in this gene, that abolish the SUMO ligase activity, are associated with primordial dwarfism and extreme insulin resistance. [provided by RefSeq, Mar 2017]
NSMCE4A	chr10	121957088	121975217	-	ENSG00000107672.14	protein_coding	C10orf86|NS4EA|NSE4A	10q26.13	NSE4 homolog A, SMC5-SMC6 complex component	Ubiquitous expression in prostate (RPKM 10.0), fat (RPKM 9.2) and 25 other tissues
NSMF	chr9	137447570	137459334	-	ENSG00000165802.21	protein_coding	HH9|NELF	9q34.3	NMDA receptor synaptonuclear signaling and neuronal migration factor	The protein encoded by this gene is involved in guidance of olfactory axon projections and migration of luteinizing hormone-releasing hormone neurons. Defects in this gene are a cause of idiopathic hypogonadotropic hypogonadism (IHH). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
NSRP1	chr17	30115521	30186475	+	ENSG00000126653.17	protein_coding	CCDC55|HSPC095|NSrp70	17q11.2	nuclear speckle splicing regulatory protein 1	Ubiquitous expression in testis (RPKM 8.3), thyroid (RPKM 8.1) and 25 other tissues
NSRP1P1	chr1	77847110	77848802	+	ENSG00000235613.2	processed_pseudogene	CCDC55P1	1p31.1	nuclear speckle splicing regulatory protein 1 pseudogene 1	-
NSUN2	chr5	6599239	6633291	-	ENSG00000037474.14	protein_coding	MISU|MRT5|SAKI|TRM4	5p15.31	NOP2/Sun RNA methyltransferase 2	This gene encodes a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2011]
NSUN3	chr3	94062916	94128545	+	ENSG00000178694.9	protein_coding	COXPD48|MST077|MSTP077	3q11.2	NOP2/Sun RNA methyltransferase 3	Ubiquitous expression in colon (RPKM 4.7), testis (RPKM 4.7) and 25 other tissues
NSUN4	chr1	46340177	46365152	+	ENSG00000117481.10	protein_coding	SHTAP	1p33	NOP2/Sun RNA methyltransferase 4	Broad expression in testis (RPKM 13.3), thyroid (RPKM 4.5) and 25 other tissues
NSUN5	chr7	73302517	73308867	-	ENSG00000130305.16	protein_coding	NOL1|NOL1R|NSUN5A|WBSCR20|WBSCR20A|p120|p120(NOL1)	7q11.23	NOP2/Sun RNA methyltransferase 5	This gene encodes a member of an evolutionarily conserved family of proteins that may function as methyltransferases. This gene is located in a larger region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. There are two pseudogenes for this gene located in the same region of chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
NSUN5P1	chr7	75410322	75416787	+	ENSG00000223705.9	transcribed_unprocessed_pseudogene	NSUN5B|WBSCR20B	7q11.23	NSUN5 pseudogene 1	This locus represents a transcribed pseudogene of a nearby locus on chromosome 7, which encodes a putative methyltransferase. There is also a third closely related pseudogene locus in this region. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
NSUN5P2	chr7	72947581	72954790	-	ENSG00000106133.17	transcribed_unprocessed_pseudogene	NOL1R2|NSUN5C|WBSCR20B|WBSCR20C	7q11.23	NSUN5 pseudogene 2	This locus represents a transcribed pseudogene of a nearby locus on chromosome 7, which encodes a putative methyltransferase. There is also a third closely related pseudogene locus in this region. There is extensive alternative splicing at this locus. [provided by RefSeq, Jul 2013]
NSUN6	chr10	18545561	18659285	-	ENSG00000241058.3	protein_coding	4933414E04Rik|ARL5B-AS1|NOPD1	10p12.31	NOP2/Sun RNA methyltransferase 6	Ubiquitous expression in testis (RPKM 4.8), liver (RPKM 4.1) and 25 other tissues
NSUN7	chr4	40749897	40809985	+	ENSG00000179299.16	protein_coding	-	4p14	NOP2/Sun RNA methyltransferase family member 7	-
NT5C1A	chr1	39659121	39672038	-	ENSG00000116981.3	protein_coding	CN-I|CN-IA|CN1|CN1A|CNI	1p34.2	5'-nucleotidase, cytosolic IA	Cytosolic nucleotidases, such as NT5C1A, dephosphorylate nucleoside monophosphates (Hunsucker et al., 2001 [PubMed 11133996]).[supplied by OMIM, Mar 2008]
NT5C1B	chr2	18562872	18589572	-	ENSG00000185013.16	protein_coding	AIRP|CN-IB|CN1B	2p24.2	5'-nucleotidase, cytosolic IB	Cytosolic 5-prime nucleotidases, such as NT5C1B, catalyze production of adenosine, which regulates diverse physiologic processes (Sala-Newby and Newby, 2001 [PubMed 11690631]).[supplied by OMIM, Mar 2008]
NT5C2	chr10	103088017	103193306	-	ENSG00000076685.18	protein_coding	GMP|NT5B|PNT5|SPG45|SPG65|cN-II	10q24.32-q24.33	5'-nucleotidase, cytosolic II	This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011]
NT5C3A	chr7	33014114	33062797	-	ENSG00000122643.18	protein_coding	NT5C3|P5'N-1|P5N-1|PN-I|POMP|PSN1|UMPH|UMPH1|cN-III|hUMP1|p36	7p14.3	5'-nucleotidase, cytosolic IIIA	This gene encodes a member of the 5-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5 nucleotidase and catalyzes the dephosphorylation of pyrimidine 5 monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. [provided by RefSeq, Mar 2012]
NT5C3B	chr17	41825181	41836263	-	ENSG00000141698.16	protein_coding	NT5C3L|cN-IIIB	17q21.2	5'-nucleotidase, cytosolic IIIB	Ubiquitous expression in testis (RPKM 21.3), thyroid (RPKM 20.8) and 25 other tissues
NT5CP2	chr14	73539221	73539781	-	ENSG00000258408.1	processed_pseudogene	-	14q24.3	5',3'-nucleotidase, cytosolic pseudogene 2	-
NT5DC1	chr6	116100849	116249497	+	ENSG00000178425.13	protein_coding	C6orf200|LP2642|NT5C2L1	6q22.1	5'-nucleotidase domain containing 1	While the exact function of the protein encoded by this gene is not known, it belongs to the 5(3)-deoxyribonucleotidase family. [provided by RefSeq, May 2010]
NT5DC2	chr3	52524385	52535054	-	ENSG00000168268.10	protein_coding	-	3p21.1	5'-nucleotidase domain containing 2	-
NT5DC3	chr12	103770453	103841197	-	ENSG00000111696.11	protein_coding	TU12B1-TY|TU12B1TY	12q23.3	5'-nucleotidase domain containing 3	Broad expression in bone marrow (RPKM 4.0), brain (RPKM 3.1) and 24 other tissues
NT5DC4	chr2	112721486	112742879	+	ENSG00000144130.11	protein_coding	-	2q14.1	5'-nucleotidase domain containing 4	-
NT5E	chr6	85449584	85495791	+	ENSG00000135318.11	protein_coding	CALJA|CD73|E5NT|NT|NT5|NTE|eN|eNT	6q14.3	5'-nucleotidase ecto	The protein encoded by this gene is a plasma membrane protein that catalyzes the conversion of extracellular nucleotides to membrane-permeable nucleosides. The encoded protein is used as a determinant of lymphocyte differentiation. Defects in this gene can lead to the calcification of joints and arteries. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
NT5M	chr17	17303335	17347663	+	ENSG00000205309.13	protein_coding	dNT-2|dNT2|mdN	17p11.2	5',3'-nucleotidase, mitochondrial	This gene encodes a 5 nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the 5- and 2(3)-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
NTAN1	chr16	15037853	15056079	-	ENSG00000157045.8	protein_coding	PNAA|PNAD	16p13.11	N-terminal asparagine amidase	The protein encoded by this gene functions in a step-wise process of protein degradation through the N-end rule pathway. This protein acts as a tertiary destabilizing enzyme that deamidates N-terminal L-Asn residues on proteins to produce N-terminal L-Asp. L-Asp substrates are subsequently conjugated to L-Arg, which is recognized by specific E3 ubiquitin ligases and targeted to the proteasome. Pseudogenes of this gene are located on the long arms of chromosomes 8, 10 and 12. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
NTAN1P2	chr8	86481754	86483002	-	ENSG00000250569.1	processed_pseudogene	-	8q21.3	N-terminal asparagine amidase pseudogene 2	-
NTAQ1	chr8	 123416725	123475696	+	ENSG00000156795	protein-coding	C8orf32|WDYHV1	8q24.13	N-terminal glutamine amidase 1	-
NTF4	chr19	49061066	49065054	-	ENSG00000225950.8	protein_coding	GLC10|GLC1O|NT-4|NT-4/5|NT-5|NT4|NT5|NTF5	19q13.33	neurotrophin 4	This gene is a member of a family of neurotrophic factors, neurotrophins, that control survival and differentiation of mammalian neurons. The expression of this gene is ubiquitous and less influenced by environmental signals. While knock-outs of other neurotrophins including nerve growth factor, brain-derived neurotrophic factor, and neurotrophin 3  prove lethal during early postnatal development, NTF5-deficient mice only show minor cellular deficits and develop normally to adulthood. [provided by RefSeq, Jul 2008]
NTHL1	chr16	2039815	2047866	-	ENSG00000065057.7	protein_coding	FAP3|NTH1|OCTS3|hNTH1	16p13.3	nth like DNA glycosylase 1	The protein encoded by this gene is a DNA N-glycosylase of the endonuclease III family. Like a similar protein in E. coli, the encoded protein has DNA glycosylase activity on DNA substrates containing oxidized pyrimidine residues and has apurinic/apyrimidinic lyase activity. [provided by RefSeq, Oct 2008]
NTMT1	chr9	129608884	129636131	+	ENSG00000148335.14	protein_coding	AD-003|C9orf32|HOMT1A|METTL11A|NRMT|NRMT1|NTM1A	9q34.11	N-terminal Xaa-Pro-Lys N-methyltransferase 1	The METTL11A gene encodes an N-terminal methyltransferase for the RAN (MIM 601179) guanine nucleotide exchange factor regulator of chromosome condensation 1 (RCC1; MIM 179710). METTL11A enzyme alpha-N-methylates other protein targets such as SET (MIM 600960) and RB (MIM 180200).[supplied by OMIM, Nov 2010]
NTMT2	chr1	 170145959	170168866	+	ENSG00000203740	protein-coding	C1orf184|HOMT1B|METTL11B|NTM1B	1q24.2	N-terminal Xaa-Pro-Lys N-methyltransferase 2	-
NTN1	chr17	9021542	9244000	+	ENSG00000065320.8	protein_coding	MRMV4|NTN1L	17p13.1	netrin 1	Netrin is included in a family of laminin-related secreted proteins.  The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development.  Mutations and loss of expression of netrin suggest that variation in netrin may be involved in cancer development. [provided by RefSeq, Jul 2008]
NTN4	chr12	95657807	95791152	-	ENSG00000074527.11	protein_coding	PRO3091	12q22	netrin 4	This gene encodes a member of the netrin family of proteins, which function in various biological processes including axon guidance, tumorogenesis, and angiogenesis. Netrins are laminin-related proteins that have an N-terminal laminin-type domain, epidermal growth factor-like repeat domain, and a positively charged heparin-binding domain at the C-terminus. The protein encoded by this gene is involved in processes including neurite growth and migration, angiogenesis and mural cell adhesion to endothelial cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
NTN5	chr19	48661407	48673081	-	ENSG00000142233.11	protein_coding	-	19q13.33	netrin 5	-
NTNG1	chr1	107140007	107483458	+	ENSG00000162631.18	protein_coding	Lmnt1	1p13.3	netrin G1	This gene encodes a preproprotein that is processed into a secreted protein containing eukaroytic growth factor (EGF)-like domains. This protein acts to guide axon growth during neuronal development. Polymorphisms in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2015]
NTNG2	chr9	132161676	132244534	+	ENSG00000196358.10	protein_coding	LHLL9381|Lmnt2|NEDBASH|NTNG1|bA479K20.1	9q34.13	netrin G2	Biased expression in bone marrow (RPKM 7.5), brain (RPKM 4.1) and 4 other tissues
NTPCR	chr1	232950605	232983882	+	ENSG00000135778.11	protein_coding	C1orf57|HCR-NTPase|THEP1	1q42.2	nucleoside-triphosphatase, cancer-related	The protein encoded by this gene is a non-specific nucleoside triphosphatase that is slow-acting in vitro. This gene is overexpressed in many tumor tissues, and while it is not essential for the cell, overexpression is cytotoxic. However, the cytotoxicity is not related to its triphosphatase activity. [provided by RefSeq, Jul 2016]
NTRK1	chr1	156815640	156881850	+	ENSG00000198400.11	protein_coding	MTC|TRK|TRK1|TRKA|Trk-A|p140-TrkA	1q23.1	neurotrophic receptor tyrosine kinase 1	This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, cognitive disability and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]
NTRK2	chr9	84668551	85027070	+	ENSG00000148053.15	protein_coding	DEE58|EIEE58|GP145-TrkB|OBHD|TRKB|trk-B	9q21.33	neurotrophic receptor tyrosine kinase 2	This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation. Mutations in this gene have been associated with obesity and mood disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
NTRK3	chr15	87859751	88256768	-	ENSG00000140538.16	protein_coding	GP145-TrkC|TRKC|gp145(trkC)	15q25.3	neurotrophic receptor tyrosine kinase 3	This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
NTRK3-AS1	chr15	88252730	88271066	+	ENSG00000260305.1	lincRNA	-	15q25.3	NTRK3 antisense RNA 1	-
NTS	chr12	85874295	85882992	+	ENSG00000133636.10	protein_coding	NMN-125|NN|NT|NT/N|NTS1	12q21.31	neurotensin	This gene encodes a common precursor for two peptides, neuromedin N and neurotensin. Neurotensin is a secreted tridecapeptide, which is widely distributed throughout the central nervous system, and may function as a neurotransmitter or a neuromodulator. It may be involved in dopamine-associated pathophysiological events, in the maintenance of gut structure and function, and in the regulation of fat metabolism. Neurotensin also exhibits antimicrobial activity against bacteria and fungi. Tissue-specific processing may lead to the formation in some tissues of larger forms of neuromedin N and neurotensin. The large forms may represent more stable peptides that are also biologically active. [provided by RefSeq, Oct 2014]
NUAK1	chr12	106063340	106140033	-	ENSG00000074590.13	protein_coding	ARK5	12q23.3	NUAK family kinase 1	Broad expression in brain (RPKM 19.6), skin (RPKM 9.2) and 19 other tissues
NUAK2	chr1	205302059	205321791	-	ENSG00000163545.8	protein_coding	ANPH2|SNARK	1q32.1	NUAK family kinase 2	Broad expression in esophagus (RPKM 10.7), kidney (RPKM 9.5) and 22 other tissues
NUB1	chr7	151341699	151378449	+	ENSG00000013374.15	protein_coding	BS4|NUB1L|NYREN18	7q36.1	negative regulator of ubiquitin like proteins 1	This gene encodes a protein that functions as a negative regulator of NEDD8, a ubiquitin-like protein that conjugates with cullin family members in order to regulate vital biological events. The protein encoded by this gene regulates the NEDD8 conjugation system post-transcriptionally by recruiting NEDD8 and its conjugates to the proteasome for degradation. This protein interacts with the product of the AIPL1 gene, which is associated with Leber congenital amaurosis, an inherited retinopathy, and mutations in that gene can abolish interaction with this protein, which may contribute to the pathogenesis. This protein is also known to accumulate in Lewy bodies in Parkinsons disease and dementia with Lewy bodies, and in glial cytoplasmic inclusions in multiple system atrophy, with this abnormal accumulation being specific to alpha-synucleinopathy lesions. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
NUBP1	chr16	10743786	10769351	+	ENSG00000103274.10	protein_coding	CIAO5|NBP|NBP1|NBP35	16p13.13	nucleotide binding protein 1	NUBP1 is a member of the NUBP/MRP subfamily of ATP-binding proteins (Nakashima et al., 1999 [PubMed 10486206]).[supplied by OMIM, Mar 2008]
NUBP2	chr16	1782901	1789191	+	ENSG00000095906.16	protein_coding	CFD1|CIAO6|NBP 2|NUBP1	16p13.3	nucleotide binding protein 2	This gene encodes an adenosine triphosphate (ATP) and metal-binding protein that is required for the assembly of cyotosolic iron-sulfur proteins. The encoded protein functions in a heterotetramer with nucleotide-binding protein 1 (NUBP1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]
NUBPL	chr14	31489956	31861224	+	ENSG00000151413.16	protein_coding	C14orf127|IND1|MC1DN21|huInd1	14q12	nucleotide binding protein like	This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
NUCB1	chr19	48900050	48923372	+	ENSG00000104805.15	protein_coding	CALNUC|NUC	19q13.33	nucleobindin 1	This gene encodes a member of a small calcium-binding EF-hand protein family. The encoded protein is thought to have a key role in Golgi calcium homeostasis and Ca(2+)-regulated signal transduction events. [provided by RefSeq, Jun 2010]
NUCB1-AS1	chr19	48910930	48918891	-	ENSG00000235191.1	antisense	-	19q13.33	NUCB1 antisense RNA 1	-
NUCB2	chr11	17208153	17349974	+	ENSG00000070081.15	protein_coding	HEL-S-109|NEFA	11p15.1	nucleobindin 2	This gene encodes a protein with a suggested role in calcium level maintenance, eating regulation in the hypothalamus, and release of tumor necrosis factor from vascular endothelial cells. This protein binds calcium and has EF-folding domains. [provided by RefSeq, Oct 2011]
NUCKS1	chr1	205712819	205750276	-	ENSG00000069275.12	protein_coding	JC7|NUCKS	1q32.1	nuclear casein kinase and cyclin dependent kinase substrate 1	This gene encodes a nuclear protein that is highly conserved in vertebrates. The conserved regions of the protein contain several consensus phosphorylation sites for casein kinase II and cyclin-dependent kinases, two putative nuclear localization signals, and a basic DNA-binding domain. It is phosphorylated in vivo by Cdk1 during mitosis of the cell cycle. [provided by RefSeq, Aug 2010]
NUDC	chr1	26900238	26946862	+	ENSG00000090273.13	protein_coding	HNUDC|MNUDC|NPD011	1p36.11	nuclear distribution C, dynein complex regulator	This gene encodes a nuclear distribution protein that plays an essential role in mitosis and cytokinesis. The encoded protein is involved in spindle formation during mitosis and in microtubule organization during cytokinesis. Pseudogenes of this gene are found on chromosome 2. [provided by RefSeq, Feb 2012]
NUDCD1	chr8	109240919	109334385	-	ENSG00000120526.10	protein_coding	CML66|OVA66	8q23.1	NudC domain containing 1	Predicted to be involved in immune system process. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
NUDCD3	chr7	44379121	44490880	-	ENSG00000015676.17	protein_coding	NudCL	7p13	NudC domain containing 3	The product of this gene functions to maintain the stability of dynein intermediate chain. Depletion of this gene product results in aggregation and degradation of dynein intermediate chain, mislocalization of the dynein complex from kinetochores, spindle microtubules, and spindle poles, and loss of gamma-tubulin from spindle poles. The protein localizes to the Golgi apparatus during interphase, and levels of the protein increase after the G1/S transition. [provided by RefSeq, Jul 2008]
NUDT1	chr7	2242222	2251146	+	ENSG00000106268.15	protein_coding	MTH1	7p22.3	nudix hydrolase 1	Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded by this gene is an enzyme that hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP, to monophosphates, thereby preventing misincorporation. The encoded protein is localized mainly in the cytoplasm, with some in the mitochondria, suggesting that it is involved in the sanitization of nucleotide pools both for nuclear and mitochondrial genomes. Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional variants have been observed, but their full-length natures have not been determined. A rare single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. [provided by RefSeq, Dec 2018]
NUDT12	chr5	103548855	103562793	-	ENSG00000112874.9	protein_coding	-	5q21.2	nudix hydrolase 12	Ubiquitous expression in kidney (RPKM 12.0), thyroid (RPKM 10.7) and 24 other tissues
NUDT13	chr10	73110375	73131828	+	ENSG00000166321.13	protein_coding	-	10q22.2	nudix hydrolase 13	-
NUDT14	chr14	105172938	105181323	-	ENSG00000183828.14	protein_coding	UGPP|UGPPase	14q32.33	nudix hydrolase 14	The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This enzyme contains a Nudix hydrolase domain and is a UDPG pyrophosphatase that hydrolyzes UDPG to produce glucose 1-phosphate and UMP. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
NUDT16	chr3	131381671	131388830	+	ENSG00000198585.11	protein_coding	-	3q22.1	nudix hydrolase 16	-
NUDT16L1	chr16	4693694	4695859	+	ENSG00000168101.14	protein_coding	SDOS|TIRR	16p13.3	nudix hydrolase 16 like 1	Ubiquitous expression in kidney (RPKM 5.2), prostate (RPKM 4.4) and 25 other tissues
NUDT17	chr1	145845629	145848953	+	ENSG00000186364.11	protein_coding	-	1q21.1	nudix hydrolase 17	-
NUDT18	chr8	22106872	22109419	-	ENSG00000275074.1	protein_coding	MTH3	8p21.3	nudix hydrolase 18	The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This protein contains a Nudix hydrolase domain and hydrolyzes oxidized forms of guanosine and deoxyguanosine diphosphates. [provided by RefSeq, Sep 2012]
NUDT19	chr19	32691961	32713796	+	ENSG00000213965.3	protein_coding	RP2	19q13.11	nudix hydrolase 19	Ubiquitous expression in adrenal (RPKM 3.2), prostate (RPKM 2.7) and 25 other tissues
NUDT2	chr9	34329506	34343713	+	ENSG00000164978.17	protein_coding	APAH1	9p13.3	nudix hydrolase 2	This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotide Ap4A, the function of which has yet to be established. This gene may be a candidate tumor suppressor gene. Alternative splicing has been observed at this locus and four transcript variants, all encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]
NUDT21	chr16	56429133	56452199	-	ENSG00000167005.13	protein_coding	CFIM25|CPSF5	16q13	nudix hydrolase 21	The protein encoded by this gene is one subunit of a cleavage factor required for 3 RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3 end processing complex and facilitates the recruitment of other processing factors. This gene encodes the 25kD subunit of the protein complex, which is composed of four polypeptides. [provided by RefSeq, Jul 2008]
NUDT22	chr11	64225941	64230686	+	ENSG00000149761.8	protein_coding	-	11q13.1	nudix hydrolase 22	-
NUDT3	chr6	34279679	34392674	-	ENSG00000272325.1	protein_coding	DIPP|DIPP-1|DIPP1	6p21.31	nudix hydrolase 3	NUDT3 belongs to the MutT, or Nudix, protein family. Nudix proteins act as homeostatic checkpoints at important stages in nucleoside phosphate metabolic pathways, guarding against elevated levels of potentially dangerous intermediates, like 8-oxo-dGTP, which promotes AT-to-CG transversions (Safrany et al., 1998 [PubMed 9822604]).[supplied by OMIM, Feb 2011]
NUDT4	chr12	93377883	93408146	+	ENSG00000173598.13	protein_coding	DIPP-2B|DIPP2|DIPP2alpha|DIPP2beta|HDCMB47P|NUDT4B	12q22	nudix hydrolase 4	The protein encoded by this gene regulates the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to regulating intracellular trafficking. Several alternatively spliced transcript variants have been described, but the full-length nature of some variants has not been determined. Isoforms DIPP2alpha and DIPP2beta are distinguishable from each other solely by DIPP2beta possessing one additional amino acid due to intron boundary skidding in alternate splicing. [provided by RefSeq, Jul 2008]
NUDT5	chr10	12165325	12196144	-	ENSG00000165609.12	protein_coding	YSA1|YSA1H|YSAH1|hNUDT5	10p14	nudix hydrolase 5	This gene belongs to the Nudix (nucleoside diphosphate linked moiety X) hydrolase superfamily. The encoded enzyme catalyzes the hydrolysis of modified nucleoside diphosphates, including ADP-ribose (ADPR) and 8-oxoGua-containing 8-oxo-dADP and 8-oxo-dGDP. Protein-bound ADP ribose can be hazardous to the cell because it can modify some amino acid residues, resulting in the inhibition of ATP-activated potassium channels. 8-oxoGua is an oxidized form of guanine that can potentially alter genetic information by pairing with adenine and cytosine in RNA. Presence of 8-oxoGua in RNA results in formation of abnormal proteins due to translational errors. [provided by RefSeq, Aug 2013]
NUDT6	chr4	122888697	122922968	-	ENSG00000170917.13	protein_coding	ASFGF2|FGF-AS|FGF2AS|GFG-1|GFG1	4q28.1	nudix hydrolase 6	This gene overlaps and lies on the opposite strand from FGF2 gene, and is thought to be the FGF2 antisense gene. The two genes are independently transcribed, and their expression shows an inverse relationship, suggesting that this antisense transcript may regulate FGF2 expression. This gene has also been shown to have hormone-regulatory and antiproliferative actions in the pituitary that are independent of FGF2 expression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
NUDT7	chr16	77722492	77742260	+	ENSG00000140876.11	protein_coding	-	16q23.1	nudix hydrolase 7	Ubiquitous expression in liver (RPKM 10.5), heart (RPKM 9.9) and 24 other tissues
NUDT8	chr11	67627938	67629930	-	ENSG00000167799.9	protein_coding	-	11q13.2	nudix hydrolase 8	-
NUDT9	chr4	87422582	87459454	+	ENSG00000170502.12	protein_coding	NUDT10	4q22.1	nudix hydrolase 9	The protein encoded by this gene belongs to the Nudix hydrolase family. Nudix boxes are found in a family of diverse enzymes that catalyze the hydrolysis of nucleoside diphosphate derivatives. This enzyme is an ADP-ribose pyrophosphatase that catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. It requires divalent metal ions and an intact Nudix motif for enzymatic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
NUFIP2	chr17	29255836	29294118	-	ENSG00000108256.8	protein_coding	182-FIP|82-FIP|FIP-82|PIG1	17q11.2	nuclear FMR1 interacting protein 2	Ubiquitous expression in bone marrow (RPKM 15.1), placenta (RPKM 12.6) and 25 other tissues
NUGGC	chr8	28021964	28083871	-	ENSG00000189233.11	protein_coding	C8orf80|HMFN0672|SLIP-GC|SLIPGC	8p21.1	nuclear GTPase, germinal center associated	Biased expression in lymph node (RPKM 5.9), liver (RPKM 3.6) and 9 other tissues
NUMA1	chr11	72002864	72080693	-	ENSG00000137497.17	protein_coding	NMP-22|NUMA	11q13.4	nuclear mitotic apparatus protein 1	This gene encodes a large protein that forms a structural component of the nuclear matrix. The encoded protein interacts with microtubules and plays a role in the formation and organization of the mitotic spindle during cell division. Chromosomal translocation of this gene with the RARA (retinoic acid receptor, alpha) gene on chromosome 17 have been detected in patients with acute promyelocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
NUMB	chr14	73275107	73463642	-	ENSG00000133961.19	protein_coding	C14orf41|S171|c14_5527	14q24.2-q24.3	NUMB endocytic adaptor protein	The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded protein, whose degradation is induced in a proteasome-dependent manner by MDM2, is a membrane-bound protein that has been shown to associate with EPS15, LNX1, and NOTCH1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
NUMBL	chr19	40665905	40690972	-	ENSG00000105245.9	protein_coding	CAG3A|CTG3a|NBL|NUMB-R|NUMBLIKE|NUMBR|TNRC23	19q13.2	NUMB like endocytic adaptor protein	Ubiquitous expression in brain (RPKM 8.6), endometrium (RPKM 7.2) and 25 other tissues
NUP107	chr12	68686734	68745809	+	ENSG00000111581.9	protein_coding	NPHS11|NUP84|ODG6|ODG6; GAMOS7	12q15	nucleoporin 107	This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
NUP133	chr1	229440260	229508341	-	ENSG00000069248.11	protein_coding	GAMOS8|NPHS18|hNUP133	1q42.13	nucleoporin 133	The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008]
NUP153	chr6	17615035	17706834	-	ENSG00000124789.11	protein_coding	HNUP153|N153	6p22.3	nucleoporin 153	Nuclear pore complexes regulate the transport of macromolecules between the nucleus and cytoplasm. They are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. Nucleoporins are glycoproteins found in nuclear pores and contain characteristic pentapeptide XFXFG repeats as well as O-linked N-acetylglucosamine residues oriented towards the cytoplasm. The protein encoded by this gene has three distinct domains: a N-terminal region containing a pore targeting and an RNA-binding domain domain, a central region containing multiple zinc finger motifs, and a C-terminal region containing multiple XFXFG repeats. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
NUP155	chr5	37288137	37371181	-	ENSG00000113569.15	protein_coding	ATFB15|N155	5p13.2	nucleoporin 155	Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6. [provided by RefSeq, May 2013]
NUP160	chr11	47778087	47848555	-	ENSG00000030066.13	protein_coding	NPHS19	11p11.2	nucleoporin 160	NUP160 is 1 of up to 60 proteins that make up the 120-MD nuclear pore complex, which mediates nucleoplasmic transport.[supplied by OMIM, Apr 2004]
NUP188	chr9	128947699	129007096	+	ENSG00000095319.14	protein_coding	KIAA0169|SANDSTEF|hNup188	9q34.11	nucleoporin 188	The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013]
NUP205	chr7	135557919	135648757	+	ENSG00000155561.14	protein_coding	C7orf14|NPHS13	7q33	nucleoporin 205	This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]
NUP210	chr3	13316235	13420309	-	ENSG00000132182.11	protein_coding	GP210|POM210	3p25.1	nucleoporin 210	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a membrane-spanning glycoprotein that is a major component of the nuclear pore complex. Multiple pseudogenes related to this gene are located on chromosome 3. [provided by RefSeq, Jul 2013]
NUP210L	chr1	153992685	154155116	-	ENSG00000143552.9	protein_coding	-	1q21.3	nucleoporin 210 like	-
NUP210P1	chr3	126660609	126671939	+	ENSG00000198284.9	transcribed_processed_pseudogene	C3orf46	3q21.3	nucleoporin 210 pseudogene 1	Restricted expression toward testis (RPKM 2.3)
NUP210P3	chr3	129323046	129325426	-	ENSG00000248916.1	unprocessed_pseudogene	-	3q21.3	nucleoporin 210 pseudogene 3	-
NUP214	chr9	131125561	131234670	+	ENSG00000126883.16	protein_coding	CAIN|CAN|IIAE9	9q34.13	nucleoporin 214	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3 portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
NUP35	chr2	183117513	183161680	+	ENSG00000163002.12	protein_coding	MP-44|MP44|NP44|NUP53	2q32.1	nucleoporin 35	This gene encodes a member of the nucleoporin family. The encoded protein contains two membrane binding regions, is localized to the nuclear rim, and is part of the nuclear pore complex. All molecules entering or leaving the nucleus either diffuse through or are actively transported by the nuclear pore complex. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 7 and 10. [provided by RefSeq, Dec 2013]
NUP37	chr12	102073103	102120124	-	ENSG00000075188.8	protein_coding	MCPH24|p37	12q23.2	nucleoporin 37	Nuclear pore complexes (NPCs) are used for transporting macromolecules between the cytoplasm and the nucleus. NPCs consist of multiple copies of 30 distinct proteins (nucleoporins), which assemble into biochemically-separable subcomplexes. The protein encoded by this gene is part of a subcomplex (Nup107-160) that is required for proper NPC function as well as for normal kinetochore-microtubule interaction and mitosis. [provided by RefSeq, Dec 2015]
NUP42	chr7	 23182048	23201006	+	ENSG00000136243	protein-coding	CG1|NLP-1|NLP_1|NUPL2|hCG1	7p15.3	nucleoporin 42	Ubiquitous expression in testis (RPKM 9.0), lymph node (RPKM 6.4) and 25 other tissues
NUP43	chr6	149724315	149749665	-	ENSG00000120253.13	protein_coding	bA350J20.1|p42	6q25.1	nucleoporin 43	Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP43 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004 [PubMed 15146057]).[supplied by OMIM, Mar 2008]
NUP50	chr22	45163841	45188015	+	ENSG00000093000.18	protein_coding	NPAP60|NPAP60L	22q13.31	nucleoporin 50	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins that functions as a soluble cofactor in importin-alpha:beta-mediated nuclear protein import. Pseudogenes of this gene are found on chromosomes 5, 6, and 14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
NUP62	chr19	49906825	49929763	-	ENSG00000213024.11	protein_coding	IBSN|SNDI|p62	19q13.33	nucleoporin 62	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins and is localized to the nuclear pore central plug. This protein associates with the importin alpha/beta complex which is involved in the import of proteins containing nuclear localization signals. Multiple transcript variants of this gene encode a single protein isoform. [provided by RefSeq, Jul 2008]
NUP88	chr17	5360963	5420160	-	ENSG00000108559.11	protein_coding	FADS4	17p13.2	nucleoporin 88	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
NUP93	chr16	56730105	56850286	+	ENSG00000102900.12	protein_coding	NIC96	16q13	nucleoporin 93	The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene encodes a nucleoporin protein that localizes both to the basket of the pore and to the nuclear entry of the central gated channel of the pore. The encoded protein is a target of caspase cysteine proteases that play a central role in programmed cell death by apoptosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
NUP98	chr11	3671083	3797792	-	ENSG00000110713.15	protein_coding	ADIR2|NUP196|NUP96|Nup98-96	11p15.4	nucleoporin 98 and 96 precursor	Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to generate a 98 kDa nucleoporin and 96 kDa nucleoporin. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly (GLGF) repeat domain and participates in many cellular processes, including nuclear import, nuclear export, mitotic progression, and regulation of gene expression. The 96 kDa nucleoporin is a scaffold component of the NPC. Proteolytic cleavage is important for targeting of the proteins to the NPC. Translocations between this gene and many other partner genes have been observed in different leukemias. Rearrangements typically result in chimeras with the N-terminal GLGF domain of this gene to the C-terminus of the partner gene. Alternative splicing results in multiple transcript variants encoding different isoforms, at least two of which are proteolytically processed. Some variants lack the region that encodes the 96 kDa nucleoporin. [provided by RefSeq, Feb 2016]
NUPR1	chr16	28532708	28539174	-	ENSG00000176046.8	protein_coding	COM1|P8	16p11.2	nuclear protein 1, transcriptional regulator	Broad expression in thyroid (RPKM 197.1), pancreas (RPKM 192.3) and 21 other tissues
NUPR2	chr7	56114681	56116400	-	ENSG00000185290.3	protein_coding	NUPR1L|P8	7p11.2	nuclear protein 2, transcriptional regulator	Biased expression in testis (RPKM 27.8) and kidney (RPKM 4.0)
NUS1	chr6	117675502	117710640	+	ENSG00000153989.7	protein_coding	C6orf68|CDG1AA|MGC:7199|MRD55|NgBR|TANGO14	6q22.1	NUS1 dehydrodolichyl diphosphate synthase subunit	This gene encodes a type I single transmembrane domain receptor, which is a subunit of cis-prenyltransferase, and serves as a specific receptor for the neural and cardiovascular regulator Nogo-B. The encoded protein is essential for dolichol synthesis and protein glycosylation. This gene is highly expressed in non-small cell lung carcinomas as well as estrogen receptor-alpha positive breast cancer cells where it promotes epithelial mesenchymal transition. This gene is associated with the poor prognosis of human hepatocellular carcinoma patients. Naturally occurring mutations in this gene cause a congenital disorder of glycosylation and are associated with epilepsy. A knockout of the orthologous gene in mice causes embryonic lethality before day 6.5. Pseudogenes of this gene have been defined on chromosomes 13 and X. [provided by RefSeq, May 2017]
NUSAP1	chr15	41332694	41381050	+	ENSG00000137804.12	protein_coding	ANKT|BM037|LNP|NUSAP|PRO0310p1|Q0310|SAPL	15q15.1	nucleolar and spindle associated protein 1	NUSAP1 is a nucleolar-spindle-associated protein that plays a role in spindle microtubule organization (Raemaekers et al., 2003 [PubMed 12963707]).[supplied by OMIM, Jun 2009]
NUTF2	chr16	67846732	67872567	+	ENSG00000102898.11	protein_coding	NTF-2|NTF2|PP15	16q22.1	nuclear transport factor 2	This gene encodes a cytosolic factor that facilitates protein transport into the nucleus. The encoded protein is required for nuclear import of the small Ras-like GTPase, Ran which is involved in numerous cellular processes. This protein also interacts with the nuclear pore complex glycoprotein p62. [provided by RefSeq, Apr 2016]
NUTM2B	chr10	79703227	79714681	+	ENSG00000188199.10	protein_coding	FAM22B|bA119F19.1	10q22.3	NUT family member 2B	Ubiquitous expression in testis (RPKM 2.9), brain (RPKM 2.0) and 25 other tissues
NUTM2D	chr10	87357668	87370695	+	ENSG00000214562.14	protein_coding	FAM22D	10q23.2	NUT family member 2D	Ubiquitous expression in testis (RPKM 1.6), brain (RPKM 1.5) and 25 other tissues
NUTM2E	chr10	79841358	79850878	+	ENSG00000228570.7	protein_coding	FAM22E	10q22.3	NUT family member 2E	Note: This gene contains an intact open reading frame; however, it is classified as a pseudogene because no transcripts available as of August 2009 are thought to originate from this location, suggesting that this gene does not have a functional promoter. [26 Aug 2009]
NUTM2F	chr9	94318196	94328644	-	ENSG00000130950.13	protein_coding	FAM22F|NUTMF	9q22.32	NUT family member 2F	Biased expression in testis (RPKM 1.2), skin (RPKM 0.1) and 2 other tissues
NUTM2G	chr9	96928310	96940253	+	ENSG00000188152.12	protein_coding	FAM22G|NUTMG	9q22.33	NUT family member 2G	Low expression observed in reference dataset
NUTM2HP	chr10	50676743	50686326	+	ENSG00000232706.3	unprocessed_pseudogene	FAM22HP|NUTMHP	10q11.23	NUT family member 2H, pseudogene	-
NVL	chr1	224227334	224330387	-	ENSG00000143748.17	protein_coding	NVL2	1q42.11	nuclear VCP like	This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. Two encoded proteins, described as major and minor isoforms, have been localized to distinct regions of the nucleus. The largest encoded protein (major isoform) has been localized to the nucleolus and shown to participate in ribosome biosynthesis (PMID: 15469983, 16782053), while the minor isoform has been localized to the nucleoplasmin. [provided by RefSeq, Aug 2011]
NWD1	chr19	16719976	16817963	+	ENSG00000188039.13	protein_coding	-	19p13.11	NACHT and WD repeat domain containing 1	Biased expression in prostate (RPKM 3.7), brain (RPKM 1.6) and 6 other tissues
NXF1	chr11	62792123	62806302	-	ENSG00000162231.13	protein_coding	MEX67|TAP	11q12.3	nuclear RNA export factor 1	This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene shuttles between the nucleus and the cytoplasm and binds in vivo to poly(A)+ RNA. It is the vertebrate homologue of the yeast protein Mex67p. The encoded protein overcomes the mRNA export block caused by the presence of saturating amounts of CTE (constitutive transport element) RNA of type D retroviruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
NXN	chr17	799313	979770	-	ENSG00000167693.16	protein_coding	NRX|RRS2|TRG-4	17p13.3	nucleoredoxin	This gene encodes a member of the thioredoxin superfamily, a group of small, multifunctional redox-active proteins. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. The encoded protein acts a redox-dependent regulator of the Wnt signaling pathway and is involved in cell growth and differentiation. [provided by RefSeq, Sep 2015]
NXNL2	chr9	88535101	88584274	+	ENSG00000130045.15	protein_coding	C9orf121|RDCVF2|RdCVF2L	9q22.1	nucleoredoxin like 2	Low expression observed in reference dataset
NXPE1	chr11	114521715	114559895	-	ENSG00000095110.7	protein_coding	FAM55A	11q23.2	neurexophilin and PC-esterase domain family member 1	Restricted expression toward colon (RPKM 27.8)
NXPE2	chr11	114678386	114706933	+	ENSG00000204361.8	protein_coding	FAM55B	11q23.2-q23.3	neurexophilin and PC-esterase domain family member 2	Biased expression in colon (RPKM 2.7), salivary gland (RPKM 0.7) and 2 other tissues
NXPE3	chr3	101779202	101827392	+	ENSG00000144815.15	protein_coding	FAM55C|MST115|MSTP115	3q12.3	neurexophilin and PC-esterase domain family member 3	This gene encodes a member of the neurexophilin family of neuropeptide-like glycoproteins. The encoded protein contains a variable N-terminal domain, a highly conserved neurexophilin and PC-esterase (NXPE) central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein binds alpha neurexins, a group of presynaptic transmembrane receptors that promote adhesion between dendrites and axons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
NXPE4	chr11	114570591	114595762	-	ENSG00000137634.9	protein_coding	C11orf33|FAM55D	11q23.2	neurexophilin and PC-esterase domain family member 4	Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
NXPH1	chr7	8433955	8752963	+	ENSG00000122584.12	protein_coding	NPH1|Nbla00697	7p21.3	neurexophilin 1	This gene is a member of the neurexophilin family and encodes a secreted protein with a variable N-terminal domain, a highly conserved, N-glycosylated central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein forms a very tight complex with alpha neurexins, a group of proteins that promote adhesion between dendrites and axons. [provided by RefSeq, Jul 2008]
NXPH2	chr2	138670772	138780348	-	ENSG00000144227.4	protein_coding	NPH2	2q22.1	neurexophilin 2	Biased expression in ovary (RPKM 3.7), kidney (RPKM 2.6) and 2 other tissues
NXPH3	chr17	49575858	49583827	+	ENSG00000182575.7	protein_coding	NPH3	17q21.33	neurexophilin 3	Broad expression in brain (RPKM 6.5), endometrium (RPKM 3.8) and 18 other tissues
NXPH4	chr12	57216795	57226449	+	ENSG00000182379.9	protein_coding	NPH4	12q13.3	neurexophilin 4	Biased expression in skin (RPKM 4.7), brain (RPKM 3.2) and 13 other tissues
NYAP1	chr7	100483927	100494799	+	ENSG00000166924.8	protein_coding	C7orf51	7q22.1	neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1	Biased expression in brain (RPKM 8.0), testis (RPKM 3.2) and 5 other tissues
NYNRIN	chr14	24398786	24419288	+	ENSG00000205978.5	protein_coding	CGIN1|KIAA1305	14q12	NYN domain and retroviral integrase containing	Ubiquitous expression in ovary (RPKM 19.4), endometrium (RPKM 6.6) and 22 other tissues
OAF	chr11	120210767	120230332	+	ENSG00000184232.8	protein_coding	NS5ATP13TP2	11q23.3	out at first homolog	Ubiquitous expression in liver (RPKM 56.8), colon (RPKM 31.5) and 24 other tissues
OARD1	chr6	41033627	41097787	-	ENSG00000124596.16	protein_coding	C6orf130|TARG1|dJ34B21.3	6p21.1	O-acyl-ADP-ribose deacylase 1	The protein encoded by this gene is a deacylase that can convert O-acetyl-ADP-ribose to ADP-ribose and acetate, O-propionyl-ADP-ribose to ADP-ribose and propionate, and O-butyryl-ADP-ribose to ADP-ribose and butyrate. The ADP-ribose product is able to inhibit these reactions through a competitive feedback loop. [provided by RefSeq, Jul 2016]
OAS1	chr12	112906777	112933222	+	ENSG00000089127.12	protein_coding	E18/E16|IFI-4|OIAS|OIASI	12q24.13	2'-5'-oligoadenylate synthetase 1	This gene is induced by interferons and encodes a protein that synthesizes 2,5-oligoadenylates (2-5As). This protein activates latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection and diabetes mellitus, type 1. A disease-associated allele in a splice acceptor site influences the production of the p46 splice isoform. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, Feb 2016]
OAS2	chr12	112978395	113011723	+	ENSG00000111335.12	protein_coding	-	12q24.13	2'-5'-oligoadenylate synthetase 2	Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
OAS3	chr12	112938352	112973249	+	ENSG00000111331.12	protein_coding	p100|p100OAS	12q24.13	2'-5'-oligoadenylate synthetase 3	This gene encodes an enzyme included in the 2, 5 oligoadenylate synthase family.  This enzyme is induced by interferons and catalyzes the 2, 5 oligomers of adenosine in order to bind and activate RNase L.  This enzyme family plays a significant role in the inhibition of cellular protein synthesis and viral infection resistance. [provided by RefSeq, Jul 2008]
OASL	chr12	121019111	121039242	-	ENSG00000135114.12	protein_coding	OASL1|OASLd|TRIP-14|TRIP14|p59 OASL|p59-OASL|p59OASL	12q24.31	2'-5'-oligoadenylate synthetase like	Biased expression in bone marrow (RPKM 19.8), stomach (RPKM 11.1) and 13 other tissues
OAT	chr10	124397303	124418976	-	ENSG00000065154.11	protein_coding	GACR|HOGA|OATASE|OKT	10q26.13	ornithine aminotransferase	This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA. Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy. Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes have been defined on the X chromosome. [provided by RefSeq, Jan 2010]
OAZ1	chr19	2269509	2273490	+	ENSG00000104904.12	protein_coding	AZ1|AZI|OAZ	19p13.3	ornithine decarboxylase antizyme 1	The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 1, the first member of the antizyme family, that has broad tissue distribution, and negatively regulates intracellular polyamine levels by binding to and targeting ODC for degradation, as well as inhibiting polyamine uptake. Antizyme 1 mRNA contains two potential in-frame AUGs; and studies in rat suggest that alternative use of the two translation initiation sites results in N-terminally distinct protein isoforms with different subcellular localization. Alternatively spliced transcript variants have also been noted for this gene. [provided by RefSeq, Dec 2014]
OAZ2	chr15	64687573	64703281	-	ENSG00000180304.14	protein_coding	AZ2	15q22.31	ornithine decarboxylase antizyme 2	The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamines. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 2, the second member of the antizyme family. Like antizyme 1, antizyme 2 has broad tissue distribution, inhibits ODC activity and polyamine uptake, and stimulates ODC degradation in vivo; however, it fails to promote ODC degradation in vitro. Antizyme 2 is expressed at lower levels than antizyme 1, but is evolutionary more conserved, suggesting it likely has an important biological role. Studies also show different subcellular localization of antizymes 1 and 2, indicating specific function for each antizyme in discrete compartments of the cell. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014]
OAZ3	chr1	151762899	151771334	+	ENSG00000143450.16	protein_coding	AZ3|OAZ-t|TISP15	1q21.3	ornithine decarboxylase antizyme 3	The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 3, the third member of the antizyme family. Like antizymes 1 and 2, antizyme 3 inhibits ODC activity and polyamine uptake; however, it does not stimulate ODC degradation. Also, while antizymes 1 and 2 have broad tissue distribution, expression of antizyme 3 is restricted to haploid germ cells in testis, suggesting a distinct role for this antizyme in spermiogenesis. Antizyme 3 gene knockout studies showed that homozygous mutant male mice were infertile, and indicated the likely role of this antizyme in the formation of a rigid connection between the sperm head and tail during spermatogenesis. Alternatively spliced transcript variants encoding different isoforms, including one resulting from the use of non-AUG (CUG) translation initiation codon, have been found for this gene. [provided by RefSeq, Dec 2014]
OBI1	chr13	 78614289	78659155	-	ENSG00000152193	protein-coding	C13orf7|RNF219	13q31.1	ORC ubiquitin ligase 1	Ubiquitous expression in testis (RPKM 8.1), brain (RPKM 4.8) and 25 other tissues
OBI1-AS1	chr13	 78054855	78617325	+	ENSG00000234377	ncRNA	POU4F1-AS1|RNF219-AS1	13q22.3-q31.1	OBI1 antisense RNA 1	Ubiquitous expression in testis (RPKM 9.5), brain (RPKM 7.1) and 25 other tissues
OBP2A	chr9	135546139	135549969	+	ENSG00000122136.13	protein_coding	LCN13|OBP|OBP2C|OBPIIa|hOBPIIa	9q34.3	odorant binding protein 2A	This gene encodes a small extracellular protein belonging to the lipocalin superfamily. The protein is thought to transport small, hydrophobic, volatile molecules or odorants through the nasal mucus to olfactory receptors, and may also function as a scavenger of highly concentrated or toxic odors. The protein is expressed as a monomer in the nasal mucus, and can bind diverse types of odorants with a higher affinity for aldehydes and fatty acids. This gene and a highly similar family member are located in a cluster of lipocalin genes on chromosome 9. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
OBP2B	chr9	133205277	133209250	-	ENSG00000171102.14	protein_coding	LCN14|OBPIIb	9q34.2	odorant binding protein 2B	Restricted expression toward testis (RPKM 3.3)
OBSCN	chr1	228208130	228378874	+	ENSG00000154358.20	protein_coding	ARHGEF30|UNC89	1q42.13	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
OBSCN-AS1	chr1	 228203506	228213664	-	ENSG00000162913	ncRNA	C1orf145	1q42.13	OBSCN antisense RNA 1	Low expression observed in reference dataset
OBSL1	chr2	219550729	219571859	-	ENSG00000124006.14	protein_coding	-	2q35	obscurin like cytoskeletal adaptor 1	Broad expression in ovary (RPKM 37.4), testis (RPKM 15.3) and 19 other tissues
OCA2	chr15	27754875	28099358	-	ENSG00000104044.15	protein_coding	BEY|BEY1|BEY2|BOCA|D15S12|EYCL|EYCL2|EYCL3|HCL3|P|PED|SHEP1	15q12-q13.1	OCA2 melanosomal transmembrane protein	This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
OCEL1	chr19	17226204	17229219	+	ENSG00000099330.8	protein_coding	FWP009|S863-9	19p13.11	occludin/ELL domain containing 1	Ubiquitous expression in kidney (RPKM 11.9), colon (RPKM 9.3) and 25 other tissues
OCIAD1	chr4	48805212	48861817	+	ENSG00000109180.14	protein_coding	ASRIJ|OCIA|TPA018	4p11	OCIA domain containing 1	Ubiquitous expression in thyroid (RPKM 53.3), brain (RPKM 50.0) and 25 other tissues
OCIAD1-AS1	chr4	48852008	48860203	-	ENSG00000248256.1	antisense	-	4p11	OCIAD1 antisense RNA 1	-
OCIAD2	chr4	48885019	48906937	-	ENSG00000145247.11	protein_coding	-	4p11	OCIA domain containing 2	-
OCLN	chr5	69492292	69558104	+	ENSG00000197822.10	protein_coding	BLCPMG|PPP1R115|PTORCH1	5q13.2	occludin	This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. [provided by RefSeq, Apr 2011]
OCM	chr7	5879827	5886362	+	ENSG00000122543.10	protein_coding	OCM1|OM|ONCM	7p22.1	oncomodulin	Oncomodulin is a high-affinity calcium ion-binding protein. It belongs to the superfamily of calmodulin proteins, also known as the EF-hand proteins. Oncomodulin is an oncodevelopmental protein found in early embryonic cells in the placenta and also in tumors. [provided by RefSeq, Jul 2008]
OCSTAMP	chr20	46540946	46550574	-	ENSG00000149635.2	protein_coding	C20orf123|OC-STAMP|dJ257E24.3	20q13.12	osteoclast stimulatory transmembrane protein	The protein encoded by this gene is orthologous to the mouse osteoclast stimulatory transmembrane protein (OCSTAMP), which is a membrane-anchored cell surface receptor that promotes nucleation of osteoclasts. The mouse protein is also involved in bone resorption and osteoclast differentiation. [provided by RefSeq, Feb 2017]
ODAD2	chr10	 27812168	27999675	-	ENSG00000169126	protein-coding	ARMC4|CILD23|gudu	10p12.1	outer dynein arm docking complex subunit 2	-
ODAD3	chr19	 11420605	11435782	-	ENSG00000198003	protein-coding	CCDC151|CILD30|ODA10	19p13.2	outer dynein arm docking complex subunit 3	-
ODAD4	chr17	 41930617	41966503	+	ENSG00000204815	protein-coding	TTC25	17q21.2	outer dynein arm docking complex subunit 4	-
ODAPH	chr4	 75556066	75565893	+	ENSG00000174792	protein-coding	AI2A4|C4orf26	4q21.1	odontogenesis associated phosphoprotein	Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene is thought to encode an extracellular matrix acidic phosphoprotein that has a function in enamel mineralization during amelogenesis. Mutations in this gene are associated with recessive hypomineralized amelogenesis imperfecta. [provided by RefSeq, Oct 2012]
ODC1	chr2	10439968	10448504	-	ENSG00000115758.12	protein_coding	BABS|NEDBA|NEDBIA|ODC	2p25.1	ornithine decarboxylase 1	This gene encodes the rate-limiting enzyme of the polyamine biosynthesis pathway which catalyzes ornithine to putrescine. The activity level for the enzyme varies in response to growth-promoting stimuli and exhibits a high turnover rate in comparison to other mammalian proteins. Originally localized to both chromosomes 2 and 7, the gene encoding this enzyme has been determined to be located on 2p25, with a pseudogene located on 7q31-qter. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Dec 2013]
ODCP	chr7	129028889	129030527	+	ENSG00000244556.1	processed_pseudogene	ODC2	7q32.1	ornithine decarboxylase pseudogene	-
ODF1	chr8	102551572	102561017	+	ENSG00000155087.3	protein_coding	CT133|HSPB10|ODF|ODF2|ODF27|ODFP|ODFPG|ODFPGA|ODFPGB|RT7|SODF	8q22.3	outer dense fiber of sperm tails 1	The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. The human outer dense fibers contains at least 10 major proteins and this gene encodes the main protein. [provided by RefSeq, Jul 2008]
ODF2	chr9	128455186	128501292	+	ENSG00000136811.16	protein_coding	CT134|ODF2/1|ODF2/2|ODF84	9q34.11	outer dense fiber of sperm tails 2	The outer dense fibers are cytoskeletal structures that surround the axoneme in the middle piece and principal piece of the sperm tail. The fibers function in maintaining the elastic structure and recoil of the sperm tail as well as in protecting the tail from shear forces during epididymal transport and ejaculation. Defects in the outer dense fibers lead to abnormal sperm morphology and infertility. This gene encodes one of the major outer dense fiber proteins. Alternative splicing results in multiple transcript variants. The longer transcripts, also known as Cenexins, encode proteins with a C-terminal extension that are differentially targeted to somatic centrioles and thought to be crucial for the formation of microtubule organizing centers. [provided by RefSeq, Oct 2010]
ODF2L	chr1	86346824	86396342	-	ENSG00000122417.15	protein_coding	-	1p22.3	outer dense fiber of sperm tails 2 like	-
ODF3	chr11	196738	200261	+	ENSG00000177947.13	protein_coding	CT135|SHIPPO1|TISP50	11p15.5	outer dense fiber of sperm tails 3	ODF3 is a component of sperm flagella outer dense fibers, which add stiffness, elastic recoil, and protection against shearing forces during sperm movement.[supplied by OMIM, Apr 2004]
ODF3B	chr22	50529710	50532580	-	ENSG00000177989.13	protein_coding	FAP123|ODF3L3	22q13.33	outer dense fiber of sperm tails 3B	Broad expression in lung (RPKM 15.4), spleen (RPKM 12.9) and 22 other tissues
ODF3L1	chr15	75723977	75727688	+	ENSG00000182950.2	protein_coding	-	15q24.2	outer dense fiber of sperm tails 3 like 1	-
ODF4	chr17	8339864	8346048	+	ENSG00000184650.10	protein_coding	CT134|CT136|OPPO1	17p13.1	outer dense fiber of sperm tails 4	This gene encodes a protein that is localized in the outer dense fibers of the tails of mature sperm. This protein is thought to have some important role in the sperm tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
OFD1P17	chr5	37209364	37212381	+	ENSG00000228212.1	processed_pseudogene	71-7A3|71-7A5|C5orf1|OFD1P1	5p13.2	OFD1 pseudogene 17	-
OGA	chr10	 101784450	101818444	-	ENSG00000198408	protein-coding	MEA5|MGEA5|NCOAT	10q24.32	O-GlcNAcase	The dynamic modification of cytoplasmic and nuclear proteins by O-linked N-acetylglucosamine (O-GlcNAc) addition and removal on serine and threonine residues is catalyzed by OGT (MIM 300255), which adds O-GlcNAc, and MGEA5, a glycosidase that removes O-GlcNAc modifications (Gao et al., 2001 [PubMed 11148210]).[supplied by OMIM, Mar 2008]
OGDH	chr7	44606572	44709066	+	ENSG00000105953.14	protein_coding	AKGDH|E1k|KGD1|OGDC|OGDH2	7p13	oxoglutarate dehydrogenase	This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]
OGDHL	chr10	49734643	49762379	-	ENSG00000197444.9	protein_coding	-	10q11.23	oxoglutarate dehydrogenase L	Biased expression in kidney (RPKM 82.8), liver (RPKM 20.1) and 3 other tissues
OGFOD1	chr16	56451490	56479100	+	ENSG00000087263.16	protein_coding	TPA1	16q13	2-oxoglutarate and iron dependent oxygenase domain containing 1	Ubiquitous expression in adrenal (RPKM 10.6), esophagus (RPKM 9.7) and 25 other tissues
OGFOD2	chr12	122974580	122980043	+	ENSG00000111325.16	protein_coding	-	12q24.31	2-oxoglutarate and iron dependent oxygenase domain containing 2	-
OGFOD3	chr17	82389223	82418637	-	ENSG00000181396.12	protein_coding	C17orf101	17q25.3	2-oxoglutarate and iron dependent oxygenase domain containing 3	Ubiquitous expression in thyroid (RPKM 6.3), prostate (RPKM 5.0) and 25 other tissues
OGFR	chr20	62804835	62814000	+	ENSG00000060491.16	protein_coding	-	20q13.33	opioid growth factor receptor	Ubiquitous expression in spleen (RPKM 22.4), lung (RPKM 12.6) and 25 other tissues
OGFRL1	chr6	71288803	71308950	+	ENSG00000119900.7	protein_coding	dJ331H24.1	6q13	opioid growth factor receptor like 1	Ubiquitous expression in brain (RPKM 22.5), esophagus (RPKM 15.1) and 24 other tissues
OGFRP1	chr22	42269753	42275196	+	ENSG00000182057.4	lincRNA	-	22q13.2	opioid growth factor receptor pseudogene 1	-
OGG1	chr3	9749944	9788219	+	ENSG00000114026.21	protein_coding	HMMH|HOGG1|MUTM|OGH1	3p25.3	8-oxoguanine DNA glycosylase	This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008]
OGN	chr9	92383967	92404696	-	ENSG00000106809.10	protein_coding	OG|OIF|SLRR3A	9q22.31	osteoglycin	This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family of proteins. The encoded protein induces ectopic bone formation in conjunction with transforming growth factor beta and may regulate osteoblast differentiation. High expression of the encoded protein may be associated with elevated heart left ventricular mass. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
OIP5	chr15	41309268	41332621	-	ENSG00000104147.8	protein_coding	5730547N13Rik|CT86|LINT-25|MIS18B|MIS18beta|hMIS18beta	15q15.1	Opa interacting protein 5	The protein encoded by this gene localizes to centromeres, where it is essential for recruitment of CENP-A through the mediator Holliday junction recognition protein. Expression of this gene is upregulated in several cancers, making it a putative therapeutic target. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
OIP5-AS1	chr15	41283990	41309737	+	ENSG00000247556.6	processed_transcript	cyrano|linc-OIP5	15q15.1	OIP5 antisense RNA 1	This is a conserved gene that produces a long non-coding RNA that maintains cell proliferation in embryonic stem cells. This RNA can bind to and negatively regulate the activity of multiple cellular RNAs and microRNAs, including cyclin G associated kinase and ELAV like RNA binding protein 1. [provided by RefSeq, Dec 2017]
OIT3	chr10	72893581	72933033	+	ENSG00000138315.12	protein_coding	LZP	10q22.1	oncoprotein induced transcript 3	This gene was identified due to its downregulation in hepatocarcinomas. The encoded protein may be involved in liver development and function. [provided by RefSeq, Sep 2016]
OLA1	chr2	174072447	174248698	-	ENSG00000138430.15	protein_coding	DOC45|GBP45|GTBP9|GTPBP9|PTD004	2q31.1	Obg like ATPase 1	This gene encodes a member of the GTPase protein family. The encoded protein interacts with breast cancer-associated gene 1 (BRCA1) and BRCA1-associated RING domain protein (BARD1), and is involved in centrosome regulation. Overexpression of this gene has been observed in multiple types of cancer and may be associated with poor survival. Pseudogenes of this gene have been defined on chromosomes 17 and 22. [provided by RefSeq, Jun 2016]
OLA1P1	chr22	42107765	42108953	-	ENSG00000213790.2	processed_pseudogene	-	22q13.2	OLA1 pseudogene 1	-
OLFM1	chr9	135075422	135121179	+	ENSG00000130558.19	protein_coding	AMY|NOE1|NOELIN1|OlfA	9q34.3	olfactomedin 1	This gene product shares extensive sequence similarity with the rat neuronal olfactomedin-related ER localized protein. While the exact function of the encoded protein is not known, its abundant expression in brain suggests that it may have an essential role in nerve tissue. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
OLFM2	chr19	9853718	9936552	-	ENSG00000105088.8	protein_coding	NOE2|NOELIN2|NOELIN2_V1|OlfC	19p13.2	olfactomedin 2	Biased expression in brain (RPKM 38.1), skin (RPKM 32.4) and 13 other tissues
OLFM3	chr1	101802574	101997030	-	ENSG00000118733.16	protein_coding	NOE3|NOELIN3|OPTIMEDIN	1p21.1	olfactomedin 3	Biased expression in brain (RPKM 5.4) and adrenal (RPKM 0.4)
OLFM4	chr13	53028759	53052057	+	ENSG00000102837.6	protein_coding	GC1|GW112|OLM4|OlfD|UNQ362|bA209J19.1|hGC-1|hOLfD	13q14.3	olfactomedin 4	This gene was originally cloned from human myeloblasts and found to be selectively expressed in inflammed colonic epithelium. This gene encodes a member of the olfactomedin family. The encoded protein is an antiapoptotic factor that promotes tumor growth and is an extracellular matrix glycoprotein that facilitates cell adhesion. [provided by RefSeq, Mar 2011]
OLFML1	chr11	7485388	7511377	+	ENSG00000183801.7	protein_coding	MVAL564|UNQ564	11p15.4	olfactomedin like 1	Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
OLFML2A	chr9	124777158	124814885	+	ENSG00000185585.19	protein_coding	PRO34319	9q33.3	olfactomedin like 2A	Broad expression in spleen (RPKM 18.8), endometrium (RPKM 12.2) and 20 other tissues
OLFML3	chr1	113979391	114035572	+	ENSG00000116774.11	protein_coding	HNOEL-iso|OLF44	1p13.2	olfactomedin like 3	This gene encodes a member of the olfactomedin-like gene family which also includes genes encoding noelin, tiarin, myocilin, amassin, optimedin, photomedin, and latrophilin. The encoded protein is a secreted extracellular matrix glycoprotein with a C-terminal olfactomedin domain that facilitates protein-protein interactions, cell adhesion, and intercellular interactions. It serves as both a scaffold protein that recruits bone morphogenetic protein 1 to its substrate chordin, and as a vascular tissue remodeler with pro-angiogenic properties. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
OLIG1	chr21	33070144	33072420	+	ENSG00000184221.12	protein_coding	BHLHB6|BHLHE21	21q22.11	oligodendrocyte transcription factor 1	-
OLIG2	chr21	33025845	33029196	+	ENSG00000205927.4	protein_coding	BHLHB1|OLIGO2|PRKCBP2|RACK17|bHLHe19	21q22.11	oligodendrocyte transcription factor 2	This gene encodes a basic helix-loop-helix transcription factor which is expressed in oligodendroglial tumors of the brain. The protein is an essential regulator of ventral neuroectodermal progenitor cell fate. The gene is involved in a chromosomal translocation t(14;21)(q11.2;q22) associated with T-cell acute lymphoblastic leukemia. Its chromosomal location is within a region of chromosome 21 which has been suggested to play a role in learning deficits associated with Down syndrome. [provided by RefSeq, Jul 2008]
OLMALINC	chr10	100373615	100383368	+	ENSG00000235823.1	lincRNA	C10orf75|HI-LNC80|LINC00263|NCRNA00263|OLMALINCAS	10q24.31	oligodendrocyte maturation-associated long intergenic non-coding RNA	Ubiquitous expression in brain (RPKM 10.8), ovary (RPKM 8.8) and 24 other tissues
OLR1	chr12	10158301	10172138	-	ENSG00000173391.8	protein_coding	CLEC8A|LOX1|LOXIN|SCARE1|SLOX1	12p13.2	oxidized low density lipoprotein receptor 1	This gene encodes a low density lipoprotein receptor that belongs to the C-type lectin superfamily. This gene is regulated through the cyclic AMP signaling pathway. The encoded protein binds, internalizes and degrades oxidized low-density lipoprotein. This protein may be involved in the regulation of Fas-induced apoptosis. This protein may play a role as a scavenger receptor. Mutations of this gene have been associated with atherosclerosis, risk of myocardial infarction, and may modify the risk of Alzheimers disease. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
OMA1	chr1	58415384	58546802	-	ENSG00000162600.11	protein_coding	2010001O09Rik|DAB1|MPRP-1|MPRP1|YKR087C|ZMPOMA1|peptidase	1p32.2-p32.1	OMA1 zinc metallopeptidase	Ubiquitous expression in kidney (RPKM 9.7), prostate (RPKM 9.5) and 25 other tissues
OMD	chr9	92414245	92424461	-	ENSG00000127083.7	protein_coding	OSAD|SLRR2C	9q22.31	osteomodulin	Broad expression in heart (RPKM 10.0), fat (RPKM 8.3) and 20 other tissues
OMG	chr17	31272013	31297539	-	ENSG00000126861.4	protein_coding	OMGP	17q11.2	oligodendrocyte myelin glycoprotein	Restricted expression toward brain (RPKM 57.3)
ONECUT1	chr15	52756989	52791078	-	ENSG00000169856.8	protein_coding	HNF-6|HNF6|HNF6A	15q21.3	one cut homeobox 1	This gene encodes a member of the Cut homeobox family of transcription factors. Expression of the encoded protein is enriched in the liver, where it stimulates transcription of liver-expressed genes, and antagonizes glucocorticoid-stimulated gene transcription. This gene may influence a variety of cellular processes including glucose metabolism, cell cycle regulation, and it may also be associated with cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
ONECUT2	chr18	57435685	57491297	+	ENSG00000119547.5	protein_coding	OC-2|OC2	18q21.31	one cut homeobox 2	This gene encodes a member of the onecut family of transcription factors, which are characterized by a cut domain and an atypical homeodomain. The protein binds to specific DNA sequences and stimulates expression of target genes, including genes involved in melanocyte and hepatocyte differentiation. [provided by RefSeq, Jul 2008]
OOSP1	chr11	59938455	59995845	+	ENSG00000214788.2	unitary_pseudogene	-	11q12.1	oocyte secreted protein 1	-
OPA3	chr19	45527427	45602212	-	ENSG00000125741.4	protein_coding	MGA3	19q13.32	outer mitochondrial membrane lipid metabolism regulator OPA3	The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
OPCML	chr11	132414977	133532519	-	ENSG00000183715.13	protein_coding	IGLON1|OBCAM|OPCM	11q25	opioid binding protein/cell adhesion molecule like	This gene encodes a member of the IgLON subfamily in the immunoglobulin protein superfamily of proteins. The encoded preprotein is proteolytically processed to generate the mature protein. This protein is localized in the plasma membrane and may have an accessory role in opioid receptor function. This gene has an ortholog in rat and bovine. The opioid binding-cell adhesion molecule encoded by the rat gene binds opioid alkaloids in the presence of acidic lipids, exhibits selectivity for mu ligands and acts as a GPI-anchored protein. Since the encoded protein is highly conserved in species during evolution, it may have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
OPLAH	chr8	144051266	144063965	-	ENSG00000178814.16	protein_coding	5-Opase|OPLA|OPLAHD	8q24.3	5-oxoprolinase, ATP-hydrolysing	The protein encoded by this gene acts as a homodimer, using ATP hydrolysis to catalyze the conversion of 5-oxo-L-proline to L-glutamate. Defects in this gene are a cause of 5-oxoprolinase deficiency (OPLAHD). [provided by RefSeq, Jun 2012]
OPN1SW	chr7	128772491	128775790	-	ENSG00000128617.2	protein_coding	BCP|BOP|CBT	7q32.1	opsin 1, short wave sensitive	This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]
OPN4	chr10	86654557	86666848	+	ENSG00000122375.11	protein_coding	MOP	10q23.2	opsin 4	Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene encodes a photoreceptive opsin protein that is expressed within the ganglion and amacrine cell layers of the retina. In mouse, retinal ganglion cell axons expressing this gene projected to the suprachiasmatic nucleus and other brain nuclei involved in circadian photoentrainment. In mouse, this protein is coupled to a transient receptor potential (TRP) ion channel through a G protein signaling pathway and produces a physiologic light response via membrane depolarization and increased intracellular calcium. The protein functions as a sensory photopigment and may also have photoisomerase activity. Experiments with knockout mice indicate that this gene attenuates, but does not abolish, photoentrainment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
OPN5	chr6	47781982	47832780	+	ENSG00000124818.15	protein_coding	GPR136|GRP136|PGR12|TMEM13	6p12.3	opsin 5	Opsins are members of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This opsin gene is expressed in the eye, brain, testes, and spinal cord. This gene belongs to the seven-exon subfamily of mammalian opsin genes that includes peropsin (RRH) and retinal G protein coupled receptor (RGR). Like these other seven-exon opsin genes, this family member may encode a protein with photoisomerase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
OPRD1	chr1	28812142	28871267	+	ENSG00000116329.10	protein_coding	DOP|DOR|DOR1|OPRD	1p35.3	opioid receptor delta 1	Enables G protein-coupled enkephalin receptor activity. Involved in several processes, including G protein-coupled opioid receptor signaling pathway; cellular response to hypoxia; and positive regulation of peptidyl-serine phosphorylation. Is intrinsic component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
OPRK1	chr8	53225716	53251697	-	ENSG00000082556.10	protein_coding	K-OR-1|KOP|KOR|KOR-1|KOR1|OPRK	8q11.23	opioid receptor kappa 1	This gene encodes an opioid receptor, which is a member of the 7 transmembrane-spanning G protein-coupled receptor family. It functions as a receptor for endogenous ligands, as well as a receptor for various synthetic opioids. Ligand binding results in inhibition of adenylate cyclase activity and neurotransmitter release. This opioid receptor plays a role in the perception of pain and mediating the hypolocomotor, analgesic and aversive actions of synthetic opioids. Variations in this gene have also been associated with alcohol dependence and opiate addiction. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]
OPRL1	chr20	64080173	64100643	+	ENSG00000125510.15	protein_coding	KOR-3|KOR3|NOCIR|NOP|NOPr|OOR|OPRL|ORL1|PNOCR	20q13.33	opioid related nociceptin receptor 1	The protein encoded by this gene is a member of the 7 transmembrane-spanning G protein-coupled receptor family, and functions as a receptor for the endogenous, opioid-related neuropeptide, nociceptin/orphanin FQ. This receptor-ligand system modulates a variety of biological functions and neurobehavior, including stress responses and anxiety behavior, learning and memory, locomotor activity, and inflammatory and immune responses. A promoter region between this gene and the 5-adjacent RGS19 (regulator of G-protein signaling 19) gene on the opposite strand functions bi-directionally as a core-promoter for both genes, suggesting co-operative transcriptional regulation of these two functionally related genes. Alternatively spliced transcript variants have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]
OPRM1	chr6	154010496	154246867	+	ENSG00000112038.17	protein_coding	LMOR|M-OR-1|MOP|MOR|MOR1|OPRM	6q25.2	opioid receptor mu 1	This gene encodes one of at least three opioid receptors in humans; the mu opioid receptor (MOR). The MOR is the principal target of endogenous opioid peptides and opioid analgesic agents such as beta-endorphin and enkephalins. The MOR also has an important role in dependence to other drugs of abuse, such as nicotine, cocaine, and alcohol via its modulation of the dopamine system. The NM_001008503.2:c.118A>G allele has been associated with opioid and alcohol addiction and variations in pain sensitivity but evidence for it having a causal role is conflicting. Multiple transcript variants encoding different isoforms have been found for this gene. Though the canonical MOR belongs to the superfamily of 7-transmembrane-spanning G-protein-coupled receptors some isoforms of this gene have only 6 transmembrane domains. [provided by RefSeq, Oct 2013]
OPTN	chr10	13099449	13138308	+	ENSG00000123240.16	protein_coding	ALS12|FIP2|GLC1E|HIP7|HYPL|NRP|TFIIIA-INTP	10p13	optineurin	This gene encodes the coiled-coil containing protein optineurin. Optineurin may play a role in normal-tension glaucoma and adult-onset primary open angle glaucoma. Optineurin interacts with adenovirus E3-14.7K protein and may utilize tumor necrosis factor-alpha or Fas-ligand pathways to mediate apoptosis, inflammation or vasoconstriction. Optineurin may also function in cellular morphogenesis and membrane trafficking, vesicle trafficking, and transcription activation through its interactions with the RAB8, huntingtin, and transcription factor IIIA proteins. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
OR10AA1P	chr1	158808399	158809335	-	ENSG00000180409.3	unprocessed_pseudogene	-	1q23.1	olfactory receptor family 10 subfamily AA member 1 pseudogene	-
OR10AD1	chr12	48202083	48203387	-	ENSG00000172640.3	protein_coding	OR10AD1P|OR12-1	12q13.11	olfactory receptor family 10 subfamily AD member 1	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR10J6P	chr1	159598298	159599227	+	ENSG00000158731.2	unprocessed_pseudogene	OR10J6	1q23.2	olfactory receptor family 10 subfamily J member 6 pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR10Q1	chr11	58227882	58228918	-	ENSG00000180475.4	protein_coding	OR11-233	11q12.1	olfactory receptor family 10 subfamily Q member 1	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR10V2P	chr11	59748811	59749574	+	ENSG00000255538.1	unprocessed_pseudogene	-	11q12.1	olfactory receptor family 10 subfamily V member 2 pseudogene	-
OR10V3P	chr11	59741325	59742049	+	ENSG00000254743.1	unprocessed_pseudogene	-	11q12.1	olfactory receptor family 10 subfamily V member 3 pseudogene	-
OR10Y1P	chr11	59728519	59729492	+	ENSG00000254403.1	unprocessed_pseudogene	-	11q12.1	olfactory receptor family 10 subfamily Y member 1 pseudogene	-
OR11L1	chr1	247840928	247841896	-	ENSG00000197591.3	protein_coding	-	1q44	olfactory receptor family 11 subfamily L member 1	-
OR12D2	chr6	29396555	29397623	+	ENSG00000280236.2	polymorphic_pseudogene	DJ994E9.8|HS6M1-20	6p22.1	olfactory receptor family 12 subfamily D member 2	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
OR13A1	chr10	45302654	45315608	-	ENSG00000256574.6	protein_coding	-	10q11.21	olfactory receptor family 13 subfamily A member 1	Low expression observed in reference dataset
OR13C5	chr9	104598457	104599413	-	ENSG00000277556.1	protein_coding	OR9-11	9q31.1	olfactory receptor family 13 subfamily C member 5	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR13C6P	chr9	35991336	35992285	-	ENSG00000179443.5	unprocessed_pseudogene	OR37B	9p13.3	olfactory receptor family 13 subfamily C member 6 pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR13E1P	chr9	35859062	35859983	-	ENSG00000236083.1	unitary_pseudogene	OR13E2|OST741	9p13.3	olfactory receptor family 13 subfamily E member 1 pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR13G1	chr1	247672118	247673041	-	ENSG00000197437.3	protein_coding	OR1-37	1q44	olfactory receptor family 13 subfamily G member 1	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR13J1	chr9	35869263	35870601	-	ENSG00000168828.5	protein_coding	OR9-2	9p13.3	olfactory receptor family 13 subfamily J member 1	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR14A16	chr1	247814800	247815729	-	ENSG00000196772.3	protein_coding	OR5AT1	1q44	olfactory receptor family 14 subfamily A member 16	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR14L1P	chr1	247619643	247620570	+	ENSG00000198452.6	unprocessed_pseudogene	OR1-35|OR1-36|OR5AV1|OR5AV1P	1q44	olfactory receptor family 14 subfamily L member 1 pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR1C1	chr1	247757462	247758406	-	ENSG00000221888.3	protein_coding	HSTPCR27|OR1-42|OR1.5.10|ORL211|TPCR27	1q44	olfactory receptor family 1 subfamily C member 1	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR1F12	chr6	28073316	28074233	+	ENSG00000220721.1	unprocessed_pseudogene	OR1F12P|OR1F12Q|OR6-12|hs6M1-35P	6p22.1	olfactory receptor family 1 subfamily F member 12	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR1F2P	chr16	3215611	3216543	+	ENSG00000203581.7	unprocessed_pseudogene	OLFMF2|OR16-3|OR1F11|OR1F2|OR1F3P|hg91	16p13.3	olfactory receptor family 1 subfamily F member 2 pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR1J1	chr9	122476958	122477926	-	ENSG00000136834.3	protein_coding	OR9-18|hg32	9q33.2	olfactory receptor family 1 subfamily J member 1	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR1L1	chr9	122661566	122662648	+	ENSG00000173679.2	protein_coding	HG23|OR1L2|OR9-27|OR9-C	9q33.2	olfactory receptor family 1 subfamily L member 1	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR1L8	chr9	122567548	122568477	-	ENSG00000171496.3	protein_coding	OR9-24	9q33.2	olfactory receptor family 1 subfamily L member 8	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR1Q1	chr9	122614738	122615682	+	ENSG00000165202.3	protein_coding	HSTPCR106|OR1Q2|OR1Q3|OR9-25|OR9-A|OST226|OST226OR9-A|TPCR106	9q33.2	olfactory receptor family 1 subfamily Q member 1	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR1S2	chr11	58203202	58204181	-	ENSG00000197887.3	protein_coding	OR11-231	11q12.1	olfactory receptor family 1 subfamily S member 2	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2A1	chr7	144318125	144319057	+	ENSG00000221970.1	protein_coding	-	7q35	olfactory receptor family 2 subfamily A member 1	-
OR2A1-AS1	chr7	144251264	144356181	-	ENSG00000244479.6	antisense	-	7q35	OR2A1 antisense RNA 1	-
OR2A13P	chr7	144142009	144142938	+	ENSG00000273234.1	unprocessed_pseudogene	-	7q35	olfactory receptor family 2 subfamily A member 13 pseudogene	-
OR2A14	chr7	144129058	144130069	+	ENSG00000221938.4	protein_coding	OR2A14P|OR2A6|OST182	7q35	olfactory receptor family 2 subfamily A member 14	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2A2	chr7	144109514	144110564	+	ENSG00000221989.2	protein_coding	OR2A17P|OR2A2P|OR7-11|OST008	7q35	olfactory receptor family 2 subfamily A member 2	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2A20P	chr7	144250045	144252957	-	ENSG00000170356.8	transcribed_unprocessed_pseudogene	OR2A20	7q35	olfactory receptor family 2 subfamily A member 20 pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2A25	chr7	144074182	144075195	+	ENSG00000221933.2	protein_coding	OR2A24P|OR2A25P|OR2A27	7q35	olfactory receptor family 2 subfamily A member 25	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2A42	chr7	144231911	144232843	-	ENSG00000212807.1	protein_coding	-	7q35	olfactory receptor family 2 subfamily A member 42	-
OR2A5	chr7	144050368	144051380	+	ENSG00000221836.2	protein_coding	OR2A11P|OR2A26|OR2A8|OR7-138|OR7-141	7q35	olfactory receptor family 2 subfamily A member 5	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2A7	chr7	144258607	144259722	-	ENSG00000243896.3	protein_coding	HSDJ0798C17|OR2A21	7q35	olfactory receptor family 2 subfamily A member 7	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2AK2	chr1	247965233	247966386	+	ENSG00000187080.8	protein_coding	OR1-47|OR2AK1P	1q44	olfactory receptor family 2 subfamily AK member 2	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2AM1P	chr9	36021692	36022113	+	ENSG00000236110.1	unprocessed_pseudogene	OR37E	9p13.3	olfactory receptor family 2 subfamily AM member 1 pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2AT4	chr11	75088713	75089754	-	ENSG00000171561.3	protein_coding	OR11-265	11q13.4	olfactory receptor family 2 subfamily AT member 4	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2B11	chr1	247451029	247451982	-	ENSG00000177535.7	protein_coding	-	1q44	olfactory receptor family 2 subfamily B member 11	-
OR2B6	chr6	27957241	27958182	+	ENSG00000124657.1	protein_coding	OR2B1|OR2B1P|OR2B5|OR2B6P|OR5-40|OR5-41|OR6-31|dJ408B20.2	6p22.1	olfactory receptor family 2 subfamily B member 6	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2B7P	chr6	28046434	28047367	+	ENSG00000187763.3	unprocessed_pseudogene	hs6M1-31P	6p22.1	olfactory receptor family 2 subfamily B member 7 pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2B8P	chr6	28053228	28054165	-	ENSG00000182477.5	unprocessed_pseudogene	OR2B8|OR6-10|dJ313I6.4|hs6M1-29P	6p22.1	olfactory receptor family 2 subfamily B member 8 pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2C1	chr16	3355889	3357294	+	ENSG00000168158.3	protein_coding	OLFmf3|OR2C2P	16p13.3	olfactory receptor family 2 subfamily C member 1	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2C3	chr1	247530132	247533839	-	ENSG00000196242.7	protein_coding	OR2C4|OR2C5P|OST742	1q44	olfactory receptor family 2 subfamily C member 3	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2D3	chr11	6920974	6922043	+	ENSG00000178358.4	protein_coding	OR11-89	11p15.4	olfactory receptor family 2 subfamily D member 3	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2F1	chr7	143959927	143961015	+	ENSG00000213215.4	polymorphic_pseudogene	7M1-2|OLF3|OR14-60|OR2F3|OR2F3P|OR2F4|OR2F5|OR7-139|OR7-140	7q35	olfactory receptor family 2 subfamily F member 1	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
OR2H2	chr6	29587455	29589038	+	ENSG00000204657.3	protein_coding	FAT11|OLFR2|OLFR42B|OR2H3|dJ271M21.2|hs6M1-12	6p22.1	olfactory receptor family 2 subfamily H member 2	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2H4P	chr6	29215236	29216179	+	ENSG00000230598.1	unprocessed_pseudogene	6M1-7P|OR2H4|OR6-21|OR6-3|dJ80I19.6|hs6M1-7	6p22.1	olfactory receptor family 2 subfamily H member 4 pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2H5P	chr6	29573909	29574836	+	ENSG00000232173.2	unprocessed_pseudogene	HS271M21|OLFR42B|OR2H5|OR2H7|OR6-33|OR6-35|hs6M1-13	6p22.1	olfactory receptor family 2 subfamily H member 5 pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2I1P	chr6	29553219	29554166	+	ENSG00000237988.3	unprocessed_pseudogene	HS6M1-14|OR2I1|OR2I2|OR2I3P|OR2I4P|OR2I5P|OR2I6|OR2I7P|OR2I8P|OR2I9P|OR6-1|OR6-34	6p22.1	olfactory receptor family 2 subfamily I member 1 pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2J2	chr6	29173303	29174574	+	ENSG00000204700.4	protein_coding	OR6-19|OR6-8|OR6.3.8|ORL684|dJ80I19.4|hs6M1-6	6p22.1	olfactory receptor family 2 subfamily J member 2	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2K2	chr9	111327483	111328520	-	ENSG00000171133.2	protein_coding	HSHTPCRH06|HTPCRH06|OR2AN1P|OR2AR1P	9q31.3	olfactory receptor family 2 subfamily K member 2	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2L13	chr1	248098649	248100922	+	ENSG00000196071.4	protein_coding	OR2L14	1q44	olfactory receptor family 2 subfamily L member 13	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2L2	chr1	248038268	248039206	+	ENSG00000203663.3	protein_coding	HSHTPCRH07|HTPCRH07|OR1-48|OR2L12|OR2L4P	1q44	olfactory receptor family 2 subfamily L member 2	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2L3	chr1	248060682	248061620	+	ENSG00000198128.3	protein_coding	-	1q44	olfactory receptor family 2 subfamily L member 3	-
OR2N1P	chr6	29137880	29138816	-	ENSG00000203492.3	unprocessed_pseudogene	HS6M1-2|OLFR89|OR6-7	6p22.1	olfactory receptor family 2 subfamily N member 1 pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2R1P	chr7	143488489	143489402	-	ENSG00000236853.1	unitary_pseudogene	OR2R1|OST058	7q35	olfactory receptor family 2 subfamily R member 1, pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2S1P	chr9	36013184	36014133	+	ENSG00000228307.1	unprocessed_pseudogene	OR37D|OST611	9p13.3	olfactory receptor family 2 subfamily S member 1 pseudogene	-
OR2T32P	chr1	248083634	248084596	-	ENSG00000197067.5	unprocessed_pseudogene	-	1q44	olfactory receptor family 2 subfamily T member 32 pseudogene	-
OR2T33	chr1	248272852	248273814	-	ENSG00000177212.3	protein_coding	OR1-56|OR2T32	1q44	olfactory receptor family 2 subfamily T member 33	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2T8	chr1	247921018	247921956	+	ENSG00000177462.6	protein_coding	OR2T8P	1q44	olfactory receptor family 2 subfamily T member 8	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2V2	chr5	181154943	181155890	+	ENSG00000182613.1	protein_coding	OR2V3|OST713	5q35.3	olfactory receptor family 2 subfamily V member 2	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2W3	chr1	247895587	247896531	+	ENSG00000238243.3	protein_coding	OR2W3P|OR2W8P|OST718	1q44	olfactory receptor family 2 subfamily W member 3	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR2W5P	chr1	 247488093	247492409	+	ENSG00000203664	pseudogene	OR2W5|OST722	1q44	olfactory receptor family 2 subfamily W member 5 pseudogene	-
OR3D1P	chr1	247666887	247667841	+	ENSG00000230411.1	unprocessed_pseudogene	-	1q44	olfactory receptor family 3 subfamily D member 1 pseudogene	-
OR4A11P	chr11	55318560	55319465	+	ENSG00000254663.1	unprocessed_pseudogene	-	11q11	olfactory receptor family 4 subfamily A member 11 pseudogene	-
OR4A46P	chr11	48496348	48497280	+	ENSG00000255304.1	unprocessed_pseudogene	-	11p11.2	olfactory receptor family 4 subfamily A member 46 pseudogene	-
OR4D9	chr11	59514913	59515857	+	ENSG00000172742.4	protein_coding	OR11-253	11q12.1	olfactory receptor family 4 subfamily D member 9	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR4X2	chr11	48245056	48246080	+	ENSG00000172208.6	polymorphic_pseudogene	OR11-105	11p11.2	olfactory receptor family 4 subfamily X member 2	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
OR51B4	chr11	5301014	5301996	-	ENSG00000183251.3	protein_coding	HOR5'Beta1	11p15.4	olfactory receptor family 51 subfamily B member 4	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR52B3P	chr11	4378282	4379209	+	ENSG00000175800.5	unitary_pseudogene	PJCG7	11p15.4	olfactory receptor family 52 subfamily B member 3 pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR52N4	chr11	5754693	5755729	+	ENSG00000181074.3	protein_coding	OR11-64	11p15.4	olfactory receptor family 52 subfamily N member 4	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR5AK1P	chr11	57018100	57019021	+	ENSG00000255083.2	unprocessed_pseudogene	OR5AK5P	11q12.1	olfactory receptor family 5 subfamily AK member 1 pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR5AK4P	chr11	57037534	57038436	+	ENSG00000283307.1	unprocessed_pseudogene	PJCG3	11q12.1	olfactory receptor family 5 subfamily AK member 4 pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR5B1P	chr11	58365836	58366763	-	ENSG00000233499.1	unprocessed_pseudogene	OR3-144|OR5B14P|OR5B5|OR5B5P|OR5B6|OR5B6P|OR5B7|OR5B7P|OR5B8|OR5B8P|OR5B9|OR5B9P|OR6-55|OR6-57|OR8-122|OR8-123|OR912-92	11q12.1	olfactory receptor family 5 subfamily B member 1 pseudogene	-
OR5B2	chr11	58422265	58423313	-	ENSG00000172365.2	protein_coding	OR11-240|OST073	11q12.1	olfactory receptor family 5 subfamily B member 2	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR5B21	chr11	58507175	58508105	-	ENSG00000198283.2	protein_coding	-	11q12.1	olfactory receptor family 5 subfamily B member 21	-
OR5BA1P	chr11	57866298	57867279	-	ENSG00000255303.1	unprocessed_pseudogene	-	11q12.1	olfactory receptor family 5 subfamily BA member 1 pseudogene	-
OR5BK1P	chr12	48355792	48356614	-	ENSG00000257763.1	unprocessed_pseudogene	-	12q13.11	olfactory receptor family 5 subfamily BK member 1 pseudogene	-
OR5BT1P	chr12	48385417	48386265	-	ENSG00000258024.1	unprocessed_pseudogene	-	12q13.11	olfactory receptor family 5 subfamily BT member 1 pseudogene	-
OR5K4	chr3	98353854	98354819	+	ENSG00000196098.2	protein_coding	-	3q11.2	olfactory receptor family 5 subfamily K member 4	-
OR5M11	chr11	56542340	56543257	-	ENSG00000255223.3	protein_coding	OR11-199	11q12.1	olfactory receptor family 5 subfamily M member 11	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR5V1	chr6	29355230	29431967	-	ENSG00000243729.3	protein_coding	6M1-21|hs6M1-21	6p22.1	olfactory receptor family 5 subfamily V member 1	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR6R1P	chr1	247833349	247834288	-	ENSG00000230576.1	unprocessed_pseudogene	-	1q44	olfactory receptor family 6 subfamily R member 1 pseudogene	-
OR7E102P	chr2	95546531	95547545	+	ENSG00000168992.4	unprocessed_pseudogene	OR7E102	2q11.1	olfactory receptor family 7 subfamily E member 102 pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR7E11P	chr11	67735608	67736559	-	ENSG00000254447.1	unprocessed_pseudogene	OR11-2|OR7E144P	11q13.2	olfactory receptor family 7 subfamily E member 11 pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR7E122P	chr3	8688143	8689159	+	ENSG00000215160.2	unprocessed_pseudogene	OST719	3p25.3	olfactory receptor family 7 subfamily E member 122 pseudogene	-
OR7E126P	chr11	71903194	71904081	+	ENSG00000254593.1	unprocessed_pseudogene	OR11-1|hg500	11q13.4	olfactory receptor family 7 subfamily E member 126 pseudogene	-
OR7E128P	chr11	71893410	71894433	+	ENSG00000228915.3	unprocessed_pseudogene	-	11q13.4	olfactory receptor family 7 subfamily E member 128 pseudogene	-
OR7E14P	chr11	17013998	17053024	+	ENSG00000184669.7	transcribed_unprocessed_pseudogene	OR11-5|OR7E151P	11p15.1	olfactory receptor family 7 subfamily E member 14 pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR7E158P	chr8	11919900	11920809	-	ENSG00000254948.1	unprocessed_pseudogene	-	8p23.1	olfactory receptor family 7 subfamily E member 158 pseudogene	-
OR7E161P	chr8	11928597	11929563	-	ENSG00000206014.6	unprocessed_pseudogene	-	8p23.1	olfactory receptor family 7 subfamily E member 161 pseudogene	-
OR7E38P	chr7	97966090	97967074	-	ENSG00000183444.10	unprocessed_pseudogene	OR7E76|OST127	7q21.3	olfactory receptor family 7 subfamily E member 38 pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR7E62P	chr2	71055527	71056003	+	ENSG00000234896.1	unprocessed_pseudogene	OR2-4|OR2-52|OR2-53|OR2-75|OR7E62|OR7E63|OR7E63P|OR7E64|OR7E64P|OR7E82P|PJCG8|PJCG9	2p13.3	olfactory receptor family 7 subfamily E member 62 pseudogene	-
OR7E7P	chr7	97946987	97947998	-	ENSG00000238228.1	unprocessed_pseudogene	-	7q21.3	olfactory receptor family 7 subfamily E member 7 pseudogene	-
OR7E91P	chr2	71029028	71029893	+	ENSG00000205847.5	unprocessed_pseudogene	-	2p13.3	olfactory receptor family 7 subfamily E member 91 pseudogene	Biased expression in prostate (RPKM 1.1), placenta (RPKM 0.8) and 8 other tissues
OR8G5	chr11	124264827	124265867	+	ENSG00000255298.2	protein_coding	OR11-298|OR8G5P|OR8G6	11q24.2	olfactory receptor family 8 subfamily G member 5	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR8G7P	chr11	124238420	124239486	+	ENSG00000276316.1	unprocessed_pseudogene	-	11q24.2	olfactory receptor family 8 subfamily G member 7 pseudogene	-
OR8H2	chr11	56105018	56106055	+	ENSG00000181767.2	protein_coding	OR11-171	11q12.1	olfactory receptor family 8 subfamily H member 2	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR8H3	chr11	56122373	56123311	+	ENSG00000181761.5	protein_coding	OR11-172	11q12.1	olfactory receptor family 8 subfamily H member 3	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
OR8K2P	chr11	56335142	56336068	+	ENSG00000255134.1	unprocessed_pseudogene	-	11q12.1	olfactory receptor family 8 subfamily K member 2 pseudogene	-
OR8S1	chr12	48507354	48529897	+	ENSG00000197376.2	protein_coding	-	12q13.11	olfactory receptor family 8 subfamily S member 1	Low expression observed in reference dataset
OR8T1P	chr12	48442030	48442947	-	ENSG00000226413.2	unprocessed_pseudogene	-	12q13.11	olfactory receptor family 8 subfamily T member 1 pseudogene	-
OR9H1P	chr1	247774910	247775836	+	ENSG00000228336.1	unitary_pseudogene	UNQ9373	1q44	olfactory receptor family 9 subfamily H member 1 pseudogene	Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
ORAI1	chr12	121626550	121642677	+	ENSG00000276045.2	protein_coding	CRACM1|IMD9|ORAT1|TAM2|TMEM142A	12q24.31	ORAI calcium release-activated calcium modulator 1	The protein encoded by this gene is a membrane calcium channel subunit that is activated by the calcium sensor STIM1 when calcium stores are depleted. This type of channel is the primary way for calcium influx into T-cells. Defects in this gene are a cause of immune dysfunction with T-cell inactivation due to calcium entry defect type 1 (IDTICED1). [provided by RefSeq, Sep 2011]
ORAI2	chr7	102433106	102456821	+	ENSG00000160991.15	protein_coding	C7orf19|CBCIP2|MEM142B|TMEM142B	7q22.1	ORAI calcium release-activated calcium modulator 2	Broad expression in spleen (RPKM 5.4), bone marrow (RPKM 5.3) and 23 other tissues
ORAI3	chr16	30949066	30956461	+	ENSG00000175938.6	protein_coding	TMEM142C	16p11.2	ORAI calcium release-activated calcium modulator 3	Ubiquitous expression in prostate (RPKM 8.2), testis (RPKM 7.2) and 25 other tissues
ORC1	chr1	52372829	52404459	-	ENSG00000085840.12	protein_coding	HSORC1|ORC1L|PARC1	1p32.3	origin recognition complex subunit 1	The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is the largest subunit of the ORC complex. While other ORC subunits are stable throughout the cell cycle, the levels of this protein vary during the cell cycle, which has been shown to be controlled by ubiquitin-mediated proteolysis after initiation of DNA replication. This protein is found to be selectively phosphorylated during mitosis. It is also reported to interact with MYST histone acetyltransferase 2 (MyST2/HBO1), a protein involved in control of transcription silencing. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
ORC3	chr6	87590067	87667453	+	ENSG00000135336.14	protein_coding	LAT|LATHEO|ORC3L	6q15	origin recognition complex subunit 3	The origin recognition complex (ORC) is a highly conserved six subunits protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Studies of a similar gene in Drosophila suggested a possible role of this protein in neuronal proliferation and olfactory memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene. [provided by RefSeq, Jul 2008]
ORC4	chr2	147930397	148021604	-	ENSG00000115947.13	protein_coding	ORC4L|ORC4P	2q23.1	origin recognition complex subunit 4	The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. This gene encodes a subunit of the ORC complex. Several alternatively spliced transcript variants, some of which encode the same protein, have been reported for this gene. [provided by RefSeq, Oct 2010]
ORC5	chr7	104126341	104208047	-	ENSG00000164815.10	protein_coding	ORC5L|ORC5P|ORC5T|PPP1R117	7q22.1-q22.2	origin recognition complex subunit 5	The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Oct 2010]
ORC6	chr16	46689643	46698394	+	ENSG00000091651.8	protein_coding	ORC6L	16q11.2	origin recognition complex subunit 6	The origin recognition complex (ORC) is a highly conserved six subunit protein complex essential for the initiation of the DNA replication in eukaryotic cells. Studies in yeast demonstrated that ORC binds specifically to origins of replication and serves as a platform for the assembly of additional initiation factors such as Cdc6 and Mcm proteins. The protein encoded by this gene is a subunit of the ORC complex. Gene silencing studies with small interfering RNA demonstrated that this protein plays an essential role in coordinating chromosome replication and segregation with cytokinesis. [provided by RefSeq, Oct 2010]
ORM1	chr9	114323056	114326475	+	ENSG00000229314.5	protein_coding	AGP-A|AGP1|HEL-S-153w|ORM	9q32	orosomucoid 1	This gene encodes a key acute phase plasma protein.  Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant.  The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq, Jul 2008]
ORM2	chr9	114329869	114333252	+	ENSG00000228278.3	protein_coding	AGP-B|AGP-B'|AGP2	9q32	orosomucoid 2	This gene encodes a key acute phase plasma protein.  Because of its increase due to acute inflammation, this protein is classified as an acute-phase reactant.  The specific function of this protein has not yet been determined; however, it may be involved in aspects of immunosuppression. [provided by RefSeq, Jul 2008]
ORMDL1	chr2	189770323	189784371	-	ENSG00000128699.13	protein_coding	-	2q32.2	ORMDL sphingolipid biosynthesis regulator 1	-
ORMDL2	chr12	55817919	55821879	+	ENSG00000123353.9	protein_coding	HSPC160|MST095|MSTP095|adoplin-2	12q13.2	ORMDL sphingolipid biosynthesis regulator 2	Ubiquitous expression in esophagus (RPKM 18.1), colon (RPKM 18.0) and 25 other tissues
ORMDL3	chr17	39921041	39927601	-	ENSG00000172057.9	protein_coding	-	17q21.1	ORMDL sphingolipid biosynthesis regulator 3	-
OS9	chr12	57693955	57721557	+	ENSG00000135506.15	protein_coding	ERLEC2|OS-9	12q13.3-q14.1	OS9 endoplasmic reticulum lectin	This gene encodes a protein that is highly expressed in osteosarcomas. This protein binds to the hypoxia-inducible factor 1 (HIF-1), a key regulator of the hypoxic response and angiogenesis, and promotes the degradation of one of its subunits. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
OSBP	chr11	59574398	59616144	-	ENSG00000110048.11	protein_coding	OSBP1	11q12.1	oxysterol binding protein	Oxysterol binding protein is an intracellular protein that is believed to transport sterols from lysosomes to the nucleus where the sterol down-regulates the genes for the LDL receptor, HMG-CoA reductase, and HMG synthetase [provided by RefSeq, Jul 2008]
OSBP2	chr22	30693782	30907824	+	ENSG00000184792.15	protein_coding	HLM|ORP-4|ORP4|OSBPL1|OSBPL4	22q12.2	oxysterol binding protein 2	The protein encoded by this gene contains a pleckstrin homology (PH) domain and an oxysterol-binding region. It binds oxysterols such as 7-ketocholesterol and may inhibit their cytotoxicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2013]
OSBPL11	chr3	125528858	125595090	-	ENSG00000144909.7	protein_coding	ORP-11|ORP11|OSBP12|TCCCIA00292	3q21.2	oxysterol binding protein like 11	This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. [provided by RefSeq, Jul 2008]
OSBPL1A	chr18	24162044	24397880	-	ENSG00000141447.17	protein_coding	ORP-1|ORP1|OSBPL1B	18q11.2	oxysterol binding protein like 1A	This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. Transcript variants derived from alternative promoter usage and/or alternative splicing exist; they encode different isoforms. [provided by RefSeq, Jul 2008]
OSBPL2	chr20	62231922	62296213	+	ENSG00000130703.15	protein_coding	DFNA67|DNFA67|ORP-2|ORP2	20q13.33	oxysterol binding protein like 2	This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although the encoded protein contains only the sterol-binding domain. In vitro studies have shown that the encoded protein can bind strongly to phosphatic acid and weakly to phosphatidylinositol 3-phosphate, but cannot bind to 25-hydroxycholesterol. The protein associates with the Golgi apparatus. Transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2014]
OSBPL3	chr7	24796539	24981634	-	ENSG00000070882.12	protein_coding	ORP-3|ORP3|OSBP3	7p15.3	oxysterol binding protein like 3	This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. The encoded protein is involved in the regulation of cell adhesion and organization of the actin cytoskeleton. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
OSBPL5	chr11	3087116	3166739	-	ENSG00000021762.19	protein_coding	OBPH1|ORP5	11p15.4	oxysterol binding protein like 5	This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]
OSBPL6	chr2	178194481	178402891	+	ENSG00000079156.16	protein_coding	ORP6	2q31.2	oxysterol binding protein like 6	This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
OSBPL7	chr17	47807372	47821834	-	ENSG00000006025.11	protein_coding	ORP7	17q21.32	oxysterol binding protein like 7	This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]
OSBPL8	chr12	76351797	76559809	-	ENSG00000091039.16	protein_coding	MST120|MSTP120|ORP8|OSBP10	12q21.2	oxysterol binding protein like 8	This gene encodes a member of a family of proteins containing an N-terminal pleckstrin homology domain and a highly conserved C-terminal oxysterol-binding protein-like sterol-binding domain. It binds mutliple lipid-containing molecules, including phosphatidylserine, phosphatidylinositol 4-phosphate (PI4P) and oxysterol, and promotes their exchange between the endoplasmic reticulum and the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
OSBPL9	chr1	51577179	51798427	+	ENSG00000117859.18	protein_coding	ORP-9|ORP9	1p32.3	oxysterol binding protein like 9	This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. This family member functions as a cholesterol transfer protein that regulates Golgi structure and function. Multiple transcript variants, most of which encode distinct isoforms, have been identified. Related pseudogenes have been identified on chromosomes 3, 11 and 12. [provided by RefSeq, Jul 2010]
OSCAR	chr19	54094668	54102692	-	ENSG00000170909.13	protein_coding	PIGR3|PIgR-3	19q13.42	osteoclast associated Ig-like receptor	Osteoclasts are multinucleated cells that resorb bone and are essential for bone homeostasis. This gene encodes an osteoclast-associated receptor (OSCAR), which is a member of the leukocyte receptor complex protein family that plays critical roles in the regulation of both innate and adaptive immune responses. The encoded protein may play a role in oxidative stress-mediated atherogenesis as well as monocyte adhesion. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
OSCP1	chr1	36415827	36450451	-	ENSG00000116885.18	protein_coding	C1orf102|NOR1	1p34.3	organic solute carrier partner 1	Enables transmembrane transporter activity. Involved in xenobiotic detoxification by transmembrane export across the plasma membrane. Located in basal plasma membrane and cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
OSER1	chr20	44196496	44210791	-	ENSG00000132823.10	protein_coding	C20orf111|HSPC207|Osr1|Perit1|dJ1183I21.1	20q13.12	oxidative stress responsive serine rich 1	Broad expression in testis (RPKM 25.7), bone marrow (RPKM 22.5) and 24 other tissues
OSER1-DT	chr20	 44210960	44226027	+	ENSG00000223891	ncRNA	OSER1-AS1	20q13.12	OSER1 divergent transcript	Ubiquitous expression in ovary (RPKM 6.2), brain (RPKM 5.4) and 25 other tissues
OSGEP	chr14	20446411	20455105	-	ENSG00000092094.10	protein_coding	GAMOS3|GCPL1|KAE1|OSGEP1|PRSMG1|TCS3	14q11.2	O-sialoglycoprotein endopeptidase	Predicted to enable N(6)-L-threonylcarbamoyladenine synthase activity and metal ion binding activity. Involved in tRNA threonylcarbamoyladenosine modification. Located in cytoplasm; nuclear speck; and plasma membrane. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome 3. [provided by Alliance of Genome Resources, Apr 2022]
OSGIN1	chr16	83948282	83966332	+	ENSG00000140961.12	protein_coding	BDGI|OKL38	16q23.3	oxidative stress induced growth inhibitor 1	This gene encodes an oxidative stress response protein that regulates cell death. Expression of the gene is regulated by p53 and is induced by DNA damage. The protein regulates apoptosis by inducing cytochrome c release from mitochondria. It also appears to be a key regulator of both inflammatory and anti-inflammatory molecules. The loss of this protein correlates with uncontrolled cell growth and tumor formation. Naturally occurring read-through transcription exists between this gene and the neighboring upstream malonyl-CoA decarboxylase (MLYCD) gene, but the read-through transcripts are unlikely to produce a protein product. [provided by RefSeq, Aug 2011]
OSGIN2	chr8	89901859	89927888	+	ENSG00000164823.9	protein_coding	C8orf1|hT41	8q21.3	oxidative stress induced growth inhibitor family member 2	Ubiquitous expression in fat (RPKM 10.6), brain (RPKM 9.0) and 25 other tissues
OSM	chr22	30262829	30266840	-	ENSG00000099985.3	protein_coding	-	22q12.2	oncostatin M	Biased expression in bone marrow (RPKM 29.4), appendix (RPKM 5.8) and 4 other tissues
OSMR	chr5	38845858	38945596	+	ENSG00000145623.12	protein_coding	IL-31R-beta|IL-31RB|OSMRB|OSMRbeta|PLCA1	5p13.1	oncostatin M receptor	This gene encodes a member of the type I cytokine receptor family. The encoded protein heterodimerizes with interleukin 6 signal transducer to form the type II oncostatin M receptor and with interleukin 31 receptor A to form the interleukin 31 receptor, and thus transduces oncostatin M and interleukin 31 induced signaling events. Mutations in this gene have been associated with familial primary localized cutaneous amyloidosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
OSR1	chr2	19351485	19358653	-	ENSG00000143867.6	protein_coding	ODD	2p24.1	odd-skipped related transcription factor 1	Note: OSR1 (Gene ID: 130497) and OXSR1 (Gene ID: 9943) share the OSR1 symbol/alias in common. OSR1 is a widely used alternative name for oxidative stress responsive 1 (OXSR1). [29 Jun 2018]
OST4	chr2	27070472	27071773	-	ENSG00000228474.5	protein_coding	-	2p23.3	oligosaccharyltransferase complex subunit 4, non-catalytic	-
OSTC	chr4	108650584	108667820	+	ENSG00000198856.12	protein_coding	DC2	4q25	oligosaccharyltransferase complex non-catalytic subunit	Ubiquitous expression in thyroid (RPKM 57.1), endometrium (RPKM 49.2) and 25 other tissues
OSTCP2	chr1	26985897	26986340	-	ENSG00000225294.1	processed_pseudogene	-	1p36.11	oligosaccharyltransferase complex subunit pseudogene 2	-
OSTCP8	chr9	33968071	33968518	-	ENSG00000226801.2	processed_pseudogene	-	9p13.3	oligosaccharyltransferase complex subunit pseudogene 8	-
OSTF1	chr9	75088543	75147265	+	ENSG00000134996.11	protein_coding	OSF|SH3P2|bA235O14.1	9q21.13	osteoclast stimulating factor 1	Osteoclast-stimulating factor-1 is an intracellular protein produced by osteoclasts that indirectly induces osteoclast formation and bone resorption (Reddy et al., 1998 [PubMed 10092216]).[supplied by OMIM, Mar 2008]
OSTM1	chr6	108041409	108165854	-	ENSG00000081087.14	protein_coding	GIPN|GL|HSPC019|OPTB5	6q21	osteoclastogenesis associated transmembrane protein 1	This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [provided by RefSeq, Jul 2008]
OSTN	chr3	191199241	191265615	+	ENSG00000188729.6	protein_coding	MUSCLIN	3q28	osteocrin	Predicted to enable signaling receptor binding activity. Involved in negative regulation of dendrite extension. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
OSTN-AS1	chr3	191213291	191234605	-	ENSG00000233308.1	antisense	-	3q28	OSTN antisense RNA 1	-
OTOA	chr16	21678514	21760729	+	ENSG00000155719.16	protein_coding	CT108|DFNB22	16p12.2|16p12.2	otoancorin	The protein encoded by this gene is specifically expressed in the inner ear, and is located at the interface between the apical surface of the inner ear sensory epithelia and their overlying acellular gels. It is prposed that this protein is involved in the attachment of the inner ear acellular gels to the apical surface of the underlying nonsensory cells. Mutations in this gene are associated with autosomal recessive deafness type 22 (DFNB22). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
OTOF	chr2	26457203	26558698	-	ENSG00000115155.16	protein_coding	AUNB1|DFNB6|DFNB9|FER1L2|NSRD9	2p23.3	otoferlin	Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found also in the C. elegans spermatogenesis factor FER-1 and human dysferlin, while the long form has 6 C2 domains. The homology suggests that this protein may be involved in vesicle membrane fusion. Several transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
OTUB1	chr11	63985853	64001811	+	ENSG00000167770.11	protein_coding	HSPC263|OTB1|OTU1	11q13.1	OTU deubiquitinase, ubiquitin aldehyde binding 1	The product of this gene is a member of the OTU (ovarian tumor) superfamily of predicted cysteine proteases. The encoded protein is a highly specific ubiquitin iso-peptidase, and cleaves ubiquitin from branched poly-ubiquitin chains but not from ubiquitinated substrates. It interacts with another ubiquitin protease and an E3 ubiquitin ligase that inhibits cytokine gene transcription in the immune system. It is proposed to function in specific ubiquitin-dependent pathways, possibly by providing an editing function for polyubiquitin chain growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
OTUB2	chr14	94026329	94048930	+	ENSG00000089723.9	protein_coding	C14orf137|OTB2|OTU2	14q32.12	OTU deubiquitinase, ubiquitin aldehyde binding 2	This gene encodes one of several deubiquitylating enzymes. Ubiquitin modification of proteins is needed for their stability and function; to reverse the process, deubiquityling enzymes remove ubiquitin. This protein contains an OTU domain and binds Ubal (ubiquitin aldehyde); an active cysteine protease site is present in the OTU domain. [provided by RefSeq, Aug 2011]
OTUD1	chr10	23439458	23442390	+	ENSG00000165312.6	protein_coding	DUBA7|OTDC1	10p12.2	OTU deubiquitinase 1	Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA7 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 2008]
OTUD3	chr1	19882513	19912945	+	ENSG00000169914.5	protein_coding	DUBA4	1p36.13	OTU deubiquitinase 3	Broad expression in testis (RPKM 8.1), endometrium (RPKM 3.2) and 23 other tissues
OTUD4	chr4	145110838	145180161	-	ENSG00000164164.15	protein_coding	DUBA6|HIN1|HSHIN1	4q31.21	OTU deubiquitinase 4	Alternatively spliced transcript variants have been found for this gene. The smaller protein isoform encoded by the shorter transcript variant is found only in HIV-1 infected cells. [provided by RefSeq, Jul 2010]
OTUD6B	chr8	91070196	91087095	+	ENSG00000155100.10	protein_coding	CGI-77|DUBA-5|DUBA5|IDDFSDA	8q21.3	OTU deubiquitinase 6B	This gene encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Deubiquitinating enzymes are primarily involved in removing ubiquitin from proteins targeted for degradation. This protein may function as a negative regulator of the cell cycle in B cells. [provided by RefSeq, Nov 2013]
OTUD6B-AS1	chr8	91059909	91070189	-	ENSG00000253738.1	antisense	GS1-251I9.4	8q21.3	OTUD6B antisense RNA 1 (head to head)	Ubiquitous expression in thyroid (RPKM 8.2), brain (RPKM 7.9) and 25 other tissues
OTUD7A	chr15	31475398	31870789	-	ENSG00000169918.9	protein_coding	C15orf16|C16ORF15|CEZANNE2|OTUD7	15q13.3	OTU deubiquitinase 7A	The protein encoded by this gene is a deubiquitinizing enzyme and possible tumor suppressor. The encoded protein acts on TNF receptor associated factor 6 (TRAF6) to control nuclear factor kappa B expression. However, this gene is downregulated by SNAIL1 in hepatocellular carcinoma cells, contributing to their progression and malignancy. [provided by RefSeq, Aug 2016]
OTUD7B	chr1	149937812	150010676	-	ENSG00000264522.5	protein_coding	CEZANNE|ZA20D1	1q21.2	OTU deubiquitinase 7B	Ubiquitous expression in fat (RPKM 4.7), testis (RPKM 4.3) and 25 other tissues
OTULIN	chr5	14664664	14699711	+	ENSG00000154124.4	protein_coding	AIPDS|FAM105B|GUM	5p15.2	OTU deubiquitinase with linear linkage specificity	This gene encodes a member of the peptidase C65 family of ubiquitin isopeptidases. Members of this family remove ubiquitin from proteins. The encoded enzyme specifically recognizes and removes M1(Met1)-linked, or linear, ubiquitin chains from protein substrates. Linear ubiquitin chains are known to regulate the NF-kappa B signaling pathway in the context of immunity and inflammation. Mutations in this gene cause a potentially fatal autoinflammatory syndrome in human patients. [provided by RefSeq, Sep 2016]
OTX1	chr2	63050057	63057836	+	ENSG00000115507.9	protein_coding	-	2p15	orthodenticle homeobox 1	Biased expression in skin (RPKM 2.2), prostate (RPKM 0.7) and 5 other tissues
OVAAL	chr1	180558976	180566518	+	ENSG00000236719.2	lincRNA	LINC01131|OVAL	1q25.3	ovarian adenocarcinoma amplified long non-coding RNA	Restricted expression toward heart (RPKM 1.1)
OVCH1	chr12	29412474	29497686	-	ENSG00000187950.8	protein_coding	OVCH	12p11.22	ovochymase 1	Low expression observed in reference dataset
OVCH1-AS1	chr12	29389294	29487488	+	ENSG00000257599.1	antisense	-	12p11.22	OVCH1 antisense RNA 1	-
OVGP1	chr1	111414314	111427777	-	ENSG00000085465.12	protein_coding	CHIT5|EGP|MUC9|OGP	1p13.2	oviductal glycoprotein 1	This gene encodes a large, carbohydrate-rich, epithelial glycoprotein with numerous O-glycosylation sites located within threonine, serine, and proline-rich tandem repeats. The gene is similar to members of the mucin and the glycosyl hydrolase 18 gene families. Regulation of expression may be estrogen-dependent. Gene expression and protein secretion occur during late follicular development through early cleavage-stage embryonic development. The protein is secreted from non-ciliated oviductal epithelial cells and associates with ovulated oocytes, blastomeres, and spermatozoan acrosomal regions. [provided by RefSeq, Jul 2008]
OVOL1	chr11	65787022	65797219	+	ENSG00000172818.9	protein_coding	HOVO1	11q13.1	ovo like transcriptional repressor 1	This gene encodes a putative zinc finger containing transcription factor that is highly similar to homologous protein in Drosophila and mouse. Based on known functions in these species, this protein is likely involved in hair formation and spermatogenesis in human as well. [provided by RefSeq, Aug 2011]
OVOL1-AS1	chr11	65789051	65790868	-	ENSG00000255120.5	antisense	-	11q13.1	OVOL1 antisense RNA 1	-
OVOL2	chr20	17956979	18059188	-	ENSG00000125850.10	protein_coding	CHED|CHED1|CHED2|EUROIMAGE566589|PPCD1|ZNF339	20p11.23	ovo like zinc finger 2	This gene encodes a member of the evolutionarily conserved ovo-like protein family. Mammalian members of this family contain a single zinc finger domain composed of a tetrad of C2H2 zinc fingers with variable N- and C-terminal extensions that contain intrinsically disordered domains. Members of this family are involved in epithelial development and differentiation. Knockout of this gene in mouse results in early embryonic lethality with phenotypes that include neurectoderm expansion, impaired vascularization, and heart anomalies. In humans, allelic variants of this gene have been associated with posterior polymorphous corneal dystrophy. [provided by RefSeq, Apr 2016]
OXA1L	chr14	22766522	22773041	+	ENSG00000155463.12	protein_coding	OXA1	14q11.2	OXA1L mitochondrial inner membrane protein	This gene encodes an evolutionarily conserved protein that is localized to the inner mitochondrial membrane. The encoded protein is essential for the translocation of the N-terminal tail of subunit 2 of cytochrome c oxidase, and is involved in the assembly of the cytochrome c oxidase and ATPase complexes of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2016]
OXCT1	chr5	41730065	41870519	-	ENSG00000083720.12	protein_coding	OXCT|SCOT	5p13.1	3-oxoacid CoA-transferase 1	This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008]
OXCT1-AS1	chr5	41870030	41872241	+	ENSG00000248668.2	processed_transcript	SARRAH	5p13.1	OXCT1 antisense RNA 1	Broad expression in heart (RPKM 4.2), brain (RPKM 3.5) and 21 other tissues
OXCT2	chr1	39769523	39771348	-	ENSG00000198754.5	protein_coding	FKSG25|SCOTT	1p34.2	3-oxoacid CoA-transferase 2	The protein encoded by this gene catalyzes the transfer of a CoA group from succinate to acetoacetate and is an important enzyme in ketone body catabolism. The encoded protein localizes to the mitochondrion. This gene is intronless, and a pseudogene of this gene is located elsewhere on chromosome 1. [provided by RefSeq, Aug 2016]
OXCT2P1	chr1	39514956	39516490	+	ENSG00000237624.1	unprocessed_pseudogene	OXCT2P	1p34.3	3-oxoacid CoA-transferase 2 pseudogene 1	-
OXER1	chr2	42762481	42764261	-	ENSG00000162881.6	protein_coding	GPCR|GPR170|TG1019	2p21	oxoeicosanoid receptor 1	-
OXGR1	chr13	96985719	96994730	-	ENSG00000165621.8	protein_coding	GPR80|GPR99|P2RY15|P2Y15|aKGR	13q32.1	oxoglutarate receptor 1	This gene encodes a G protein-coupled receptor (GPCR) that belongs to the oxoglutarate receptor family within the GPCR superfamily. The encoded protein is activated by the citric acid intermediate, oxoglutarate, as well as several cysteinyl leukotrienes, including leukotrienes E4, C4 and D4, which are implicated in many inflammatory disorders. In mice, a knock-out of this gene leads to middle ear inflammation, changes in the mucosal epithelium, and an increase in fluid behind the eardrum, and is associated with hearing loss. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
OXLD1	chr17	81665036	81666635	-	ENSG00000204237.4	protein_coding	C17orf90	17q25.3	oxidoreductase like domain containing 1	Ubiquitous expression in spleen (RPKM 8.6), lymph node (RPKM 6.4) and 25 other tissues
OXNAD1	chr3	16265160	16350299	+	ENSG00000154814.13	protein_coding	-	3p25.1-p24.3	oxidoreductase NAD binding domain containing 1	Ubiquitous expression in lymph node (RPKM 2.7), appendix (RPKM 1.8) and 24 other tissues
OXSR1	chr3	38165089	38255488	+	ENSG00000172939.8	protein_coding	OSR1	3p22.2	oxidative stress responsive kinase 1	The product of this gene belongs to the Ser/Thr protein kinase family of proteins. It regulates downstream kinases in response to environmental stress, and may play a role in regulating the actin cytoskeleton. [provided by RefSeq, Jul 2008]
OXTR	chr3	8750408	8769628	-	ENSG00000180914.10	protein_coding	OT-R|OTR	3p25.3	oxytocin receptor	The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. The oxytocin-oxytocin receptor system plays an important role in the uterus during parturition. [provided by RefSeq, Jul 2008]
P2RX1	chr17	3896592	3916500	-	ENSG00000108405.3	protein_coding	P2X1	17p13.2	purinergic receptor P2X 1	The protein encoded by this gene belongs to the P2X family of G-protein-coupled receptors. These proteins can form homo-and heterotimers and function as ATP-gated ion channels and mediate rapid and selective permeability to cations. This protein is primarily localized to smooth muscle where binds ATP and mediates synaptic transmission between neurons and from neurons to smooth muscle and may being responsible for sympathetic vasoconstriction in small arteries, arterioles and vas deferens. Mouse studies suggest that this receptor is essential for normal male reproductive function. This protein may also be involved in promoting apoptosis. [provided by RefSeq, Jun 2013]
P2RX2	chr12	132618780	132622386	+	ENSG00000187848.12	protein_coding	DFNA41|P2X2	12q24.33	purinergic receptor P2X 2	The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Aug 2013]
P2RX3	chr11	57338374	57370600	+	ENSG00000109991.8	protein_coding	P2X3	11q12.1	purinergic receptor P2X 3	This gene encodes a member of the P2X purinergic receptor (purinoceptor) gene family which includes seven members (P2RX1 - P2RX7). P2X purinoceptors are a family of cation-permeable, ligand-gated ion channels that open in response to the binding of extracellular adenosine 5-triphosphate (ATP). The encoded protein is a subunit of the trimeric P2X3 receptor ion channel which is expressed by sensory or autonomic neurons. A deficiency of the orthologous protein in mice is associated with reduced pain-related behavior and urinary bladder hyporeflexia. [provided by RefSeq, Aug 2017]
P2RX4	chr12	121209857	121234106	+	ENSG00000135124.14	protein_coding	P2X4|P2X4R	12q24.31	purinergic receptor P2X 4	The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel with high calcium permeability. The main pharmacological distinction between the members of the purinoceptor family is the relative sensitivity to the antagonists suramin and PPADS. The product of this gene has the lowest sensitivity for these antagonists. Multiple alternatively spliced transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]
P2RX5	chr17	3672199	3696404	-	ENSG00000083454.21	protein_coding	LRH-1|P2X5|P2X5R	17p13.2	purinergic receptor P2X 5	The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream gene, TAX1BP3 (Tax1 binding protein 3). [provided by RefSeq, Mar 2011]
P2RX7	chr12	121132819	121188032	+	ENSG00000089041.16	protein_coding	P2X7	12q24.31	purinergic receptor P2X 7	The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010]
P2RY1	chr3	152834693	152841439	+	ENSG00000169860.6	protein_coding	P2Y1|SARCC	3q25.2	purinergic receptor P2Y1	The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor functions as a receptor for extracellular ATP and ADP. In platelets binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and probably to platelet aggregation. [provided by RefSeq, Jul 2008]
P2RY11	chr19	10111538	10115372	+	ENSG00000244165.1	protein_coding	P2Y11	19p13.2	purinergic receptor P2Y11	The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is coupled to the stimulation of the phosphoinositide and adenylyl cyclase pathways and behaves as a selective purinoceptor. Naturally occuring read-through transcripts, resulting from intergenic splicing between this gene and an immediately upstream gene (PPAN, encoding peter pan homolog), have been found. The PPAN-P2RY11 read-through mRNA is ubiquitously expressed and encodes a fusion protein that shares identity with each individual gene product. [provided by RefSeq, Jul 2008]
P2RY12	chr3	151337380	151384812	-	ENSG00000169313.9	protein_coding	ADPG-R|BDPLT8|HORK3|P2T(AC)|P2Y(12)R|P2Y(AC)|P2Y(ADP)|P2Y(cyc)|P2Y12|SP1999	3q25.1	purinergic receptor P2Y12	The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is involved in platelet aggregation, and is a potential target for the treatment of thromboembolisms and other clotting disorders. Mutations in this gene are implicated in bleeding disorder, platelet type 8 (BDPLT8). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
P2RY13	chr3	151326312	151329548	-	ENSG00000181631.6	protein_coding	FKSG77|GPCR1|GPR86|GPR94|P2Y13|SP174	3q25.1	purinergic receptor P2Y13	The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is activated by ADP. [provided by RefSeq, Sep 2008]
P2RY14	chr3	151212117	151278467	-	ENSG00000174944.8	protein_coding	BPR105|GPR105|P2Y14	3q25.1	purinergic receptor P2Y14	The product of this gene belongs to the family of G-protein coupled receptors, which contains several receptor subtypes with different pharmacological selectivity for various adenosine and uridine nucleotides. This receptor is a P2Y purinergic receptor for UDP-glucose and other UDP-sugars coupled to G-proteins. It has been implicated in extending the known immune system functions of P2Y receptors by participating in the regulation of the stem cell compartment, and it may also play a role in neuroimmune function. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
P2RY2	chr11	73218298	73236352	+	ENSG00000175591.11	protein_coding	HP2U|P2RU1|P2U|P2U1|P2UR|P2Y2|P2Y2R	11q13.4	purinergic receptor P2Y2	The product of this gene belongs to the family of P2 receptors, which is activated by extracellular nucleotides and subdivided into P2X ligand-gated ion channels and P2Y G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor, found on many cell types, is activated by ATP and UTP and is reported to be overexpressed on some cancer cell types. It is involved in many cellular functions, such as proliferation, apoptosis and inflammation. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Mar 2013]
P2RY6	chr11	73264505	73298617	+	ENSG00000171631.14	protein_coding	P2Y6	11q13.4	pyrimidinergic receptor P2Y6	The product of this gene belongs to the family of P2 receptors, which is activated by extracellular nucleotides and subdivided into P2X ligand-gated ion channels and P2Y G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor, which is a G-protein coupled receptor, is responsive to UDP, partially responsive to UTP and ADP, and not responsive to ATP. It is proposed that this receptor mediates inflammatory responses. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Mar 2013]
P3H1	chr1	42746335	42767084	-	ENSG00000117385.15	protein_coding	GROS1|LEPRE1|OI8	1p34.2	prolyl 3-hydroxylase 1	This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]
P3H2	chr3	189956728	190122437	-	ENSG00000090530.9	protein_coding	LEPREL1|MCVD|MLAT4	3q28	prolyl 3-hydroxylase 2	This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
P3H4	chr17	41801947	41812604	-	ENSG00000141696.12	protein_coding	LEPREL4|NO55|NOL55|SC65	17q21.2	prolyl 3-hydroxylase family member 4 (inactive)	This nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, with a distribution distinct from that of nucleolar protein B23. During mitosis it is associated with chromosomes. [provided by RefSeq, Jul 2008]
P4HA1	chr10	73007217	73096974	-	ENSG00000122884.12	protein_coding	P4HA	10q22.1	prolyl 4-hydroxylase subunit alpha 1	This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
P4HA2	chr5	132191838	132295315	-	ENSG00000072682.18	protein_coding	MYP25	5q31.1	prolyl 4-hydroxylase subunit alpha 2	This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
P4HA2-AS1	chr5	132184876	132192808	+	ENSG00000237714.1	antisense	-	5q31.1	P4HA2 antisense RNA 1	-
P4HA3	chr11	74235801	74311657	-	ENSG00000149380.11	protein_coding	-	11q13.4	prolyl 4-hydroxylase subunit alpha 3	Biased expression in urinary bladder (RPKM 3.9), gall bladder (RPKM 3.2) and 13 other tissues
P4HB	chr17	81843159	81860694	-	ENSG00000185624.14	protein_coding	CLCRP1|DSI|ERBA2L|GIT|P4Hbeta|PDI|PDIA1|PHDB|PO4DB|PO4HB|PROHB	17q25.3	prolyl 4-hydroxylase subunit beta	This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved in hydroxylation of prolyl residues in preprocollagen. This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions include its ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, its ability to bind thyroid hormone, its role in both the influx and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protein complex. [provided by RefSeq, Jul 2008]
P4HTM	chr3	48989886	49007154	+	ENSG00000178467.17	protein_coding	EGLN4|HIDEA|HIFPH4|P4H-TM|PH-4|PH4|PHD4	3p21.31|3p21.3	prolyl 4-hydroxylase, transmembrane	The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PA2G4	chr12	56104319	56113907	+	ENSG00000170515.13	protein_coding	EBP1|HG4-1|p38-2G4	12q13.2	proliferation-associated 2G4	This gene encodes an RNA-binding protein that is involved in growth regulation. This protein is present in pre-ribosomal ribonucleoprotein complexes and may be involved in ribosome assembly and the regulation of intermediate and late steps of rRNA processing. This protein can interact with the cytoplasmic domain of the ErbB3 receptor and may contribute to transducing growth regulatory signals. This protein is also a transcriptional co-repressor of androgen receptor-regulated genes and other cell cycle regulatory genes through its interactions with histone deacetylases. This protein has been implicated in growth inhibition and the induction of differentiation of human cancer cells. Six pseudogenes, located on chromosomes 3, 6, 9, 18, 20 and X, have been identified. [provided by RefSeq, Jul 2008]
PA2G4P4	chr3	156809551	156810732	-	ENSG00000230457.3	processed_pseudogene	PA2G4L1	3q25.31	proliferation-associated 2G4 pseudogene 4	-
PA2G4P6	chr9	89449558	89450754	+	ENSG00000231799.2	processed_pseudogene	PA2G4L3	9q22.2	proliferation-associated 2G4 pseudogene 6	-
PAAF1	chr11	73876699	73931124	+	ENSG00000175575.12	protein_coding	PAAF|Rpn14|WDR71	11q13.4	proteasomal ATPase associated factor 1	This gene encodes a WD repeat-containing protein involved in regulation of association of proteasome components. During HIV infection, the encoded protein is thought to promote provirus transcription through recruitment of the 19S regulatory complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]
PABIR1	chr9	 68780065	68785566	+	ENSG00000187866	protein-coding	C9orf42|FAM122A	9q21.11	PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1	-
PABPC1	chr8	100685816	100722809	-	ENSG00000070756.15	protein_coding	PAB1|PABP|PABP1|PABPC2|PABPL1	8q22.3	poly(A) binding protein cytoplasmic 1	This gene encodes a poly(A) binding protein. The protein shuttles between the nucleus and cytoplasm and binds to the 3 poly(A) tail of eukaryotic messenger RNAs via RNA-recognition motifs. The binding of this protein to poly(A) promotes ribosome recruitment and translation initiation; it is also required for poly(A) shortening which is the first step in mRNA decay. The gene is part of a small gene family including three protein-coding genes and several pseudogenes.[provided by RefSeq, Aug 2010]
PABPC1L	chr20	44910062	44959035	+	ENSG00000101104.12	protein_coding	C20orf119|EPAB|PABPC1L1|dJ1069P2.3	20q13.12	poly(A) binding protein cytoplasmic 1 like	This gene belongs to the polyadenylate-binding protein type-1 family of proteins. Members of this family bind to the polyA tails of mRNAs to regulate mRNA stability and translation. The mouse ortholog of this gene is required for female fertility. In human, expression of a functional protein is regulated by alternative splicing. The protein-coding splice variant for this gene is abundantly expressed in human oocytes, while a noncoding splice variant subject to nonsense-mediated decay is the predominant splice variant expressed in somatic tissues. [provided by RefSeq, Aug 2019]
PABPC1P4	chr12	63822021	63823895	+	ENSG00000255642.1	processed_pseudogene	PABPCP5|PABPL2	12q14.2	poly(A) binding protein cytoplasmic 1 pseudogene 4	-
PABPC1P6	chr2	91877969	91880195	+	ENSG00000227497.1	processed_pseudogene	-	2p11.1	poly(A) binding protein cytoplasmic 1 pseudogene 6	-
PABPC1P7	chr4	102896725	102898237	+	ENSG00000250651.1	processed_pseudogene	-	4q24	poly(A) binding protein cytoplasmic 1 pseudogene 7	-
PABPC4	chr1	39560816	39576790	-	ENSG00000090621.13	protein_coding	APP-1|APP1|PABP4|iPABP	1p34.3	poly(A) binding protein cytoplasmic 4	Poly(A)-binding proteins (PABPs) bind to the poly(A) tail present at the 3-prime ends of most eukaryotic mRNAs. PABPC4 or IPABP (inducible PABP) was isolated as an activation-induced T-cell mRNA encoding a protein. Activation of T cells increased PABPC4 mRNA levels in T cells approximately 5-fold. PABPC4 contains 4 RNA-binding domains and proline-rich C terminus. PABPC4 is localized primarily to the cytoplasm. It is suggested that PABPC4 might be necessary for regulation of stability of labile mRNA species in activated T cells. PABPC4 was also identified as an antigen, APP1 (activated-platelet protein-1), expressed on thrombin-activated rabbit platelets. PABPC4 may also be involved in the regulation of protein translation in platelets and megakaryocytes or may participate in the binding or stabilization of polyadenylates in platelet dense granules. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PABPC4L	chr4	134196333	134201748	-	ENSG00000254535.3	protein_coding	-	4q28.3	poly(A) binding protein cytoplasmic 4 like	Low expression observed in reference dataset
PABPN1	chr14	23321289	23326185	+	ENSG00000100836.10	protein_coding	OPMD|PAB2|PABII|PABP-2|PABP2	14q11.2	poly(A) binding protein nuclear 1	This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3 ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5 end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010]
PABPN1L	chr16	88863333	88866660	-	ENSG00000205022.9	protein_coding	PABPNL1|ePABP2	16q24.3	PABPN1 like, cytoplasmic	Ubiquitous expression in adrenal (RPKM 3.9), testis (RPKM 3.0) and 25 other tissues
PACC1	chr1	 212363928	212414886	-	ENSG00000065600	protein-coding	ASOR|C1orf75|PAC|PAORAC|TMEM206|hPAC|hTMEM206	1q32.3	proton activated chloride channel 1	Broad expression in brain (RPKM 7.4), kidney (RPKM 4.2) and 23 other tissues
PACERR	chr1	186680622	186681446	+	ENSG00000273129.1	lincRNA	PACER|PTGS2-AS1|PTGS2AS1	1q31.1	PTGS2 antisense NFKB1 complex-mediated expression regulator RNA	This gene represents transcription of a long non-coding RNA produced in antisense to the prostaglandin-endoperoxide synthase 2 (PTGS2) gene. This transcript interacts with NF-kB transcriptional regulators to promote expression of PTGS2. [provided by RefSeq, Feb 2015]
PACRG	chr6	162727132	163315492	+	ENSG00000112530.11	protein_coding	GLUP|HAK005771|PACRG2.1|PARK2CRG	6q26	parkin coregulated	This gene encodes a protein that is conserved across metazoans. In vertebrates, this gene is linked in a head-to-head arrangement with the adjacent parkin gene, which is associated with autosomal recessive juvenile Parkinsons disease. These genes are co-regulated in various tissues and they share a bi-directional promoter. Both genes are associated with susceptibility to leprosy. The parkin co-regulated gene protein forms a large molecular complex with chaperones, including heat shock proteins 70 and 90, and chaperonin components. This protein is also a component of Lewy bodies in Parkinsons disease patients, and it suppresses unfolded Pael receptor-induced neuronal cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PACRGL	chr4	20696282	20752907	+	ENSG00000163138.18	protein_coding	C4orf28	4p15.31	parkin coregulated like	Broad expression in brain (RPKM 3.7), testis (RPKM 3.2) and 24 other tissues
PACS1	chr11	66070363	66244747	+	ENSG00000175115.11	protein_coding	MRD17|SHMS	11q13.1-q13.2	phosphofurin acidic cluster sorting protein 1	This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of furin by binding to the proteases phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008]
PACS2	chr14	105300563	105398147	+	ENSG00000179364.13	protein_coding	DEE66|EIEE66|PACS-2|PACS1L	14q32.33	phosphofurin acidic cluster sorting protein 2	Ubiquitous expression in brain (RPKM 15.4), testis (RPKM 10.2) and 25 other tissues
PACSIN1	chr6	34466061	34535231	+	ENSG00000124507.10	protein_coding	SDPI	6p21.31	protein kinase C and casein kinase substrate in neurons 1	Biased expression in brain (RPKM 42.1) and lymph node (RPKM 1.5)
PACSIN2	chr22	42835412	43015145	-	ENSG00000100266.18	protein_coding	SDPII	22q13.2	protein kinase C and casein kinase substrate in neurons 2	This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation by regulating tubulin polymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PACSIN3	chr11	47177525	47186443	-	ENSG00000165912.15	protein_coding	SDPIII	11p11.2	protein kinase C and casein kinase substrate in neurons 3	This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PADI2	chr1	17066761	17119435	-	ENSG00000117115.12	protein_coding	PAD-H19|PAD2|PDI2	1p36.13	peptidyl arginine deiminase 2	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]
PADI4	chr1	17308195	17364004	+	ENSG00000159339.13	protein_coding	PAD|PAD4|PADI5|PDI4|PDI5	1p36.13	peptidyl arginine deiminase 4	This gene is a member of a gene family which encodes enzymes responsible for the conversion of arginine residues to citrulline residues. This gene may play a role in granulocyte and macrophage development leading to inflammation and immune response. [provided by RefSeq, Jul 2008]
PADI6	chr1	17372196	17401699	+	ENSG00000276747.1	protein_coding	PREMBL2|hPADVI	1p36.13	peptidyl arginine deiminase 6	This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. This protein may play a role in cytoskeletal reorganization in the egg and in early embryo development. [provided by RefSeq, Sep 2012]
PAFAH1B1	chr17	2593210	2685615	+	ENSG00000007168.12	protein_coding	LIS1|LIS2|MDCR|MDS|NudF|PAFAH	17p13.3	platelet activating factor acetylhydrolase 1b regulatory subunit 1	This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]
PAFAH1B2	chr11	117144267	117176894	+	ENSG00000168092.13	protein_coding	HEL-S-303	11q23.3	platelet activating factor acetylhydrolase 1b catalytic subunit 2	Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]
PAFAH1B3	chr19	42297033	42303546	-	ENSG00000079462.7	protein_coding	PAFAHG	19q13.2	platelet activating factor acetylhydrolase 1b catalytic subunit 3	This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with cognitive disability, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
PAFAH2	chr1	25959767	25998157	-	ENSG00000158006.13	protein_coding	HSD-PLA2	1p36.11	platelet activating factor acetylhydrolase 2	This gene encodes platelet-activating factor acetylhydrolase isoform 2, a single-subunit intracellular enzyme that catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). However, this lipase exhibits a broader substrate specificity than simply platelet activating factor. Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist, and both are multi-subunit enzymes. Additionally, there is a single-subunit serum isoform of this enzyme. [provided by RefSeq, Jul 2008]
PAG1	chr8	80967810	81112068	-	ENSG00000076641.4	protein_coding	CBP|PAG	8q21.13	phosphoprotein membrane anchor with glycosphingolipid microdomains 1	The protein encoded by this gene is a type III transmembrane adaptor protein that binds to the tyrosine kinase csk protein. It is thought to be involved in the regulation of T cell activation. [provided by RefSeq, Jul 2008]
PAGR1	chr16	29815952	29820117	+	ENSG00000280789.1	protein_coding	C16orf53|GAS|PA1	16p11.2	PAXIP1 associated glutamate rich protein 1	C16ORF53 (PA1) is a component of a Set1-like multiprotein histone methyltransferase complex (Cho et al., 2007 [PubMed 17500065]).[supplied by OMIM, May 2008]
PAH	chr12	102836885	102958410	-	ENSG00000171759.9	protein_coding	PH|PKU|PKU1	12q23.2	phenylalanine hydroxylase	This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]
PAICS	chr4	56435741	56464579	+	ENSG00000128050.8	protein_coding	ADE2|ADE2H1|AIRC|PAIS	4q12	phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase	This gene encodes a bifunctional enzyme containing phosphoribosylaminoimidazole carboxylase activity in its N-terminal region and phosphoribosylaminoimidazole succinocarboxamide synthetase in its C-terminal region. It catalyzes steps 6 and 7 of purine biosynthesis. The gene is closely linked and divergently transcribed with a locus that encodes an enzyme in the same pathway, and transcription of the two genes is coordinately regulated. The human genome contains several pseudogenes of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PAICSP1	chr9	37878116	37879493	+	ENSG00000226055.2	processed_pseudogene	-	9p13.2-p13.1	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase pseudogene 1	-
PAIP1	chr5	43526267	43557758	-	ENSG00000172239.13	protein_coding	-	5p12	poly(A) binding protein interacting protein 1	Ubiquitous expression in testis (RPKM 24.5), thyroid (RPKM 20.8) and 25 other tissues
PAIP1P1	chr6	30186798	30188614	-	ENSG00000233892.1	processed_pseudogene	bCX300M20.3|bPG254M11.3|bQB44E15.5	6p22.1	poly(A) binding protein interacting protein 1 pseudogene 1	-
PAIP2	chr5	139341587	139369720	+	ENSG00000120727.12	protein_coding	PAIP-2|PAIP2A	5q31.2	poly(A) binding protein interacting protein 2	Ubiquitous expression in testis (RPKM 45.2), adrenal (RPKM 41.5) and 25 other tissues
PAIP2B	chr2	71182739	71227083	-	ENSG00000124374.8	protein_coding	-	2p13.3	poly(A) binding protein interacting protein 2B	Broad expression in brain (RPKM 9.7), thyroid (RPKM 9.0) and 23 other tissues
PAK1	chr11	77321707	77474635	-	ENSG00000149269.9	protein_coding	IDDMSSD|PAKalpha|alpha-PAK|p65-PAK	11q13.5-q14.1	p21 (RAC1) activated kinase 1	This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Mutations in this gene have been associated with macrocephaly, seizures, and speech delay. Overexpression of this gene is also reported in many cancer types, and particularly in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020]
PAK2	chr3	196739857	196832647	+	ENSG00000180370.10	protein_coding	PAK65|PAKgamma	3q29	p21 (RAC1) activated kinase 2	The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [provided by RefSeq, Jul 2008]
PAK4	chr19	39125770	39182816	+	ENSG00000130669.17	protein_coding	-	19q13.2	p21 (RAC1) activated kinase 4	Ubiquitous expression in prostate (RPKM 14.9), kidney (RPKM 12.6) and 25 other tissues
PAK5	chr20	9537389	9839041	-	ENSG00000101349.16	protein_coding	PAK7	20p12.2	p21 (RAC1) activated kinase 5	The protein encoded by this gene is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulation of cytoskeletal dynamics, proliferation, and cell survival signaling. This kinase contains a CDC42/Rac1 interactive binding (CRIB) motif, and has been shown to bind CDC42 in the presence of GTP. This kinase is predominantly expressed in brain. It is capable of promoting neurite outgrowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tightly regulated during cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
PAK6	chr15	40238759	40277487	+	ENSG00000137843.11	protein_coding	PAK5	15q15.1	p21 (RAC1) activated kinase 6	This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PAK6-AS1	chr15	 40250664	40252959	-	ENSG00000176753	ncRNA	C15orf56	15q15.1	PAK6 antisense RNA 1	-
PALD1	chr10	70478821	70568449	+	ENSG00000107719.8	protein_coding	KIAA1274|PALD	10q22.1	phosphatase domain containing paladin 1	Ubiquitous expression in lung (RPKM 5.3), spleen (RPKM 4.7) and 24 other tissues
PALLD	chr4	168497066	168928457	+	ENSG00000129116.17	protein_coding	CGI-151|CGI151|MYN|PNCA1|SIH002	4q32.3	palladin, cytoskeletal associated protein	This gene encodes a cytoskeletal protein that is required for organizing the actin cytoskeleton. The protein is a component of actin-containing microfilaments, and it is involved in the control of cell shape, adhesion, and contraction. Polymorphisms in this gene are associated with a susceptibility to pancreatic cancer type 1, and also with a risk for myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PALM	chr19	708939	748329	+	ENSG00000099864.17	protein_coding	PALM1	19p13.3	paralemmin	This gene encodes a member of the paralemmin protein family. The product of this gene is a prenylated and palmitoylated phosphoprotein that associates with the cytoplasmic face of plasma membranes and is implicated in plasma membrane dynamics in neurons and other cell types. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]
PALM2AKAP2	chr9	 109640787	110172512	+	ENSG00000157654	protein-coding	AKAP-2|AKAP-KL|AKAP2|AKAPKL|MISP2|PALM2|PALM2-AKAP2|PRKA2	9q31.3	PALM2 and AKAP2 fusion	This gene belongs to the paralemmin downstream gene (PDG) family defined in PMID:22855693. Paralemmin downstream genes may have evolved contiguously with the paralemmin genes and are associated with other paralemmin paralogs in humans and several other taxa. The gene encodes three distinct protein isoforms, the PALM2 isoform, the AKAP2 isoform and the PALM2-AKAP2 isoform. The biological significance of the PALM2-AKAP2 isoforms is yet unknown. Earlier, PALM2 and AKAP2 were annotated as separate genes and PALM2-AKAP2 was annotated as a readthrough gene. [provided by RefSeq, May 2019]
PALM3	chr19	14053365	14059159	-	ENSG00000187867.8	protein_coding	-	19p13.12	paralemmin 3	-
PALMD	chr1	99645943	99694541	+	ENSG00000099260.10	protein_coding	C1orf11|PALML	1p21.2	palmdelphin	Biased expression in fat (RPKM 87.9), heart (RPKM 29.7) and 13 other tissues
PALS1	chr14	 67241435	67336061	+	ENSG00000072415	protein-coding	MPP5	14q23.3	protein associated with LIN7 1, MAGUK p55 family member	-
PAM	chr5	102753981	103031105	+	ENSG00000145730.20	protein_coding	PAL|PHM	5q21.1	peptidylglycine alpha-amidating monooxygenase	This gene encodes a multifunctional protein. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme includes two domains with distinct catalytic activities, a peptidylglycine alpha-hydroxylating monooxygenase (PHM) domain and a peptidyl-alpha-hydroxyglycine alpha-amidating lyase (PAL) domain. These catalytic domains work sequentially to catalyze the conversion of neuroendocrine peptides to active alpha-amidated products. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
PAM16	chr16	4331549	4355607	-	ENSG00000217930.7	protein_coding	CGI-136|MAGMAS|SMDMDM|TIM16|TIMM16	16p13.3	presequence translocase associated motor 16	This gene encodes a mitochondrial protein involved in granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling. This protein also plays a role in the import of nuclear-encoded mitochondrial proteins into the mitochondrial matrix and may be important in reactive oxygen species (ROS) homeostasis. Mutations in this gene cause Megarbane-Dagher-Melike type spondylometaphyseal dysplasia, an early lethal skeletal dysplasia characterized by short stature, developmental delay and other skeletal abnormalities. [provided by RefSeq, May 2017]
PAN2	chr12	56316223	56334053	-	ENSG00000135473.14	protein_coding	USP52	12q13.3	poly(A) specific ribonuclease subunit PAN2	This gene encodes a deadenylase that functions as the catalytic subunit of the polyadenylate binding protein dependent poly(A) nuclease complex. The encoded protein is a magnesium dependent 3 to 5 exoribonuclease that is involved in the degradation of cytoplasmic mRNAs. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PAN3	chr13	28138506	28295335	+	ENSG00000152520.13	protein_coding	-	13q12.2	poly(A) specific ribonuclease subunit PAN3	-
PAN3-AS1	chr13	28136843	28138193	-	ENSG00000261485.1	antisense	-	13q12.2	PAN3 antisense RNA 1	-
PANK1	chr10	89579497	89645572	-	ENSG00000152782.16	protein_coding	PANK	10q23.31	pantothenate kinase 1	This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011]
PANK2	chr20	3888839	3929882	+	ENSG00000125779.21	protein_coding	C20orf48|HARP|HSS|NBIA1|PKAN	20p13	pantothenate kinase 2	This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
PANK3	chr5	168548495	168579600	-	ENSG00000120137.6	protein_coding	-	5q34	pantothenate kinase 3	Ubiquitous expression in duodenum (RPKM 27.0), colon (RPKM 21.4) and 25 other tissues
PANK4	chr1	2508533	2526628	-	ENSG00000157881.13	protein_coding	-	1p36.32	pantothenate kinase 4 (inactive)	This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is most abundant in muscle but is expressed in all tissues. [provided by RefSeq, Jul 2008]
PANO1	chr11	797511	799190	+	ENSG00000274897.2	protein_coding	PANO	11p15.5	proapoptotic nucleolar protein 1	-
PANTR1	chr2	 104805425	104853183	-	ENSG00000233639	ncRNA	LINC01158|linc-Brn1a|linc-POU3F3	2q12.1	POU3F3 adjacent non-coding transcript 1	Predicted to act upstream of or within regulation of gene expression. [provided by Alliance of Genome Resources, Apr 2022]
PANX1	chr11	94128928	94181972	+	ENSG00000110218.8	protein_coding	MRS1|OOMD7|PX1|UNQ2529	11q21	pannexin 1	The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. [provided by RefSeq, Jul 2008]
PANX2	chr22	50170731	50180294	+	ENSG00000073150.13	protein_coding	PX2|hPANX2	22q13.33	pannexin 2	The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 1 are abundantly expressed in central nervous system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 1 may form cell type-specific gap junctions with distinct properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PAOX	chr10	133379234	133391694	+	ENSG00000148832.15	protein_coding	PAO	10q26.3	polyamine oxidase	Broad expression in testis (RPKM 17.7), spleen (RPKM 4.1) and 20 other tissues
PAPLN	chr14	73237497	73274640	+	ENSG00000100767.15	protein_coding	PPN	14q24.2	papilin, proteoglycan like sulfated glycoprotein	Broad expression in spleen (RPKM 9.2), kidney (RPKM 8.9) and 22 other tissues
PAPOLA	chr14	96501433	96567111	+	ENSG00000090060.17	protein_coding	PAP|PAP-alpha	14q32.2	poly(A) polymerase alpha	The protein encoded by this gene belongs to the poly(A) polymerase family. It is required for the addition of adenosine residues for the creation of the 3-poly(A) tail of mRNAs. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PAPOLG	chr2	60756230	60802085	+	ENSG00000115421.12	protein_coding	-	2p16.1	poly(A) polymerase gamma	Ubiquitous expression in thyroid (RPKM 5.8), testis (RPKM 3.7) and 25 other tissues
PAPPA	chr9	116153804	116402322	+	ENSG00000182752.9	protein_coding	ASBABP2|DIPLA1|IGFBP-4ase|PAPA|PAPP-A|PAPPA1	9q33.1	pappalysin 1	This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). Following IGFBP cleavage, insulin growth factors dissociate from IGFBPs and bind to IGF receptors, resulting in activation of the IGF pathway. The encoded protein plays a role in bone formation, inflammation, wound healing and female fertility. Enhanced expression of this protein is associated with diabetic nephropathy in human patients and this protein may promote tumor invasion and growth in various human cancers. [provided by RefSeq, Aug 2017]
PAPPA-AS2	chr9	116285829	116288769	-	ENSG00000226604.2	antisense	AGU1	9q33.1	PAPPA antisense RNA 2	-
PAPPA2	chr1	176463171	176845605	+	ENSG00000116183.10	protein_coding	PAPP-A2|PAPP-E|PAPPE|PLAC3|SSDA	1q25.2	pappalysin 2	This gene encodes a member of the pappalysin family of metzincin metalloproteinases. The encoded protein cleaves insulin-like growth factor-binding protein 5 and is thought to be a local regulator of insulin-like growth factor (IGF) bioavailability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
PAPSS1	chr4	107590276	107720452	-	ENSG00000138801.8	protein_coding	ATPSK1|PAPSS|SK1	4q25	3'-phosphoadenosine 5'-phosphosulfate synthase 1	Three-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS) is the sulfate donor cosubstrate for all sulfotransferase (SULT) enzymes (Xu et al., 2000 [PubMed 10679223]). SULTs catalyze the sulfate conjugation of many endogenous and exogenous compounds, including drugs and other xenobiotics. In humans, PAPS is synthesized from adenosine 5-prime triphosphate (ATP) and inorganic sulfate by 2 isoforms, PAPSS1 and PAPSS2 (MIM 603005).[supplied by OMIM, Mar 2008]
PAPSS2	chr10	87659613	87747705	+	ENSG00000198682.12	protein_coding	ATPSK2|BCYM4|SK2	10q23.2-q23.31	3'-phosphoadenosine 5'-phosphosulfate synthase 2	Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3-phosphoadenosine 5-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PAQR4	chr16	2969245	2973489	+	ENSG00000162073.13	protein_coding	-	16p13.3	progestin and adipoQ receptor family member 4	-
PAQR5	chr15	69298947	69407780	+	ENSG00000137819.13	protein_coding	MPRG	15q23	progestin and adipoQ receptor family member 5	Biased expression in kidney (RPKM 13.9), adrenal (RPKM 5.4) and 9 other tissues
PAQR6	chr1	156243321	156248117	-	ENSG00000160781.15	protein_coding	PRdelta	1q22	progestin and adipoQ receptor family member 6	Biased expression in brain (RPKM 24.4), skin (RPKM 3.1) and 2 other tissues
PAQR7	chr1	25861210	25871253	-	ENSG00000182749.5	protein_coding	MPRA|PGLP|mSR	1p36.11	progestin and adipoQ receptor family member 7	Broad expression in kidney (RPKM 22.0), testis (RPKM 21.9) and 22 other tissues
PAQR8	chr6	52361421	52407777	+	ENSG00000170915.8	protein_coding	C6orf33|LMPB1|MPRB	6p12.2	progestin and adipoQ receptor family member 8	Broad expression in brain (RPKM 26.8), colon (RPKM 23.1) and 21 other tissues
PAQR9	chr3	142949164	142963682	-	ENSG00000188582.8	protein_coding	BLNC1	3q23	progestin and adipoQ receptor family member 9	-
PAQR9-AS1	chr3	142960650	143001559	+	ENSG00000241570.8	antisense	-	3q23	PAQR9 antisense RNA 1	-
PARD3	chr10	34109560	34815325	-	ENSG00000148498.15	protein_coding	ASIP|Baz|PAR3|PAR3alpha|PARD-3|PARD3A|PPP1R118|SE2-5L16|SE2-5LT1|SE2-5T2	10p11.22-p11.21	par-3 family cell polarity regulator	This gene encodes a member of the PARD protein family. PARD family members interact with other PARD family members and other proteins; they affect asymmetrical cell division and direct polarized cell growth. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
PARD3B	chr2	204545793	205620162	+	ENSG00000116117.17	protein_coding	ALS2CR19|PAR3B|PAR3L|PAR3beta	2q33.3	par-3 family cell polarity regulator beta	Predicted to enable phosphatidylinositol binding activity. Predicted to be involved in several processes, including establishment of cell polarity; establishment of centrosome localization; and establishment or maintenance of epithelial cell apical/basal polarity. Located in cell junction. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
PARD6A	chr16	67660946	67662778	+	ENSG00000102981.9	protein_coding	PAR-6A|PAR6|PAR6C|PAR6alpha|TAX40|TIP-40	16q22.1	par-6 family cell polarity regulator alpha	This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cell membrane protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. The protein also has a role in the epithelial-to-mesenchymal transition (EMT) that characterizes the invasive phenotype associated with metastatic carcinomas. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PARD6B	chr20	50731544	50756795	+	ENSG00000124171.8	protein_coding	PAR6B	20q13.13	par-6 family cell polarity regulator beta	This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain, an OPR domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cytoplasmic protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex. [provided by RefSeq, Jul 2008]
PARD6G	chr18	80157232	80247546	-	ENSG00000178184.15	protein_coding	PAR-6G|PAR6gamma	18q23	par-6 family cell polarity regulator gamma	Broad expression in skin (RPKM 15.6), esophagus (RPKM 5.7) and 15 other tissues
PARG	chr10	49818279	49970203	-	ENSG00000227345.8	protein_coding	PARG99	10q11.23	poly(ADP-ribose) glycohydrolase	Poly(ADP-ribose) glycohydrolase (PARG) is the major enzyme responsible for the catabolism of poly(ADP-ribose), a reversible covalent-modifier of chromosomal proteins. The protein is found in many tissues and may be subject to proteolysis generating smaller, active products. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
PARGP1	chr10	45854093	45972154	-	ENSG00000239883.8	transcribed_unprocessed_pseudogene	-	10q11.22	poly(ADP-ribose) glycohydrolase pseudogene 1	-
PARK7	chr1	7954291	7985505	+	ENSG00000116288.12	protein_coding	DJ-1|DJ1|GATD2|HEL-S-67p	1p36.23	Parkinsonism associated deglycase	The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparently protects neurons against oxidative stress and cell death. Defects in this gene are the cause of autosomal recessive early-onset Parkinson disease 7. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
PARL	chr3	183829271	183884933	-	ENSG00000175193.13	protein_coding	PRO2207|PSARL|PSARL1|PSENIP2|RHBDS1	3q27.1	presenilin associated rhomboid like	This gene encodes a member of the rhomboid family of intramembrane serine proteases that is localized to the inner mitochondrial membrane. The encoded protein regulates mitochondrial remodeling and apoptosis through regulated substrate proteolysis. Proteolytic processing of the encoded protein results in the release of a small peptide, P-beta, which may transit to the nucleus. Mutations in this gene may be associated with Parkinsons disease. [provided by RefSeq, May 2016]
PARM1	chr4	74933095	75050115	+	ENSG00000169116.11	protein_coding	Cipar1|DKFZP564O0823|PARM-1|WSC4	4q13.3	prostate androgen-regulated mucin-like protein 1	Broad expression in thyroid (RPKM 83.3), colon (RPKM 61.9) and 21 other tissues
PARN	chr16	14435701	14632728	-	ENSG00000140694.16	protein_coding	DAN|DKCB6|PFBMFT4	16p13.12	poly(A)-specific ribonuclease	The protein encoded by this gene is a 3-exoribonuclease, with similarity to the RNase D family of 3-exonucleases. It prefers poly(A) as the substrate, hence, efficiently degrades poly(A) tails of mRNAs. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs. This protein is also involved in silencing of certain maternal mRNAs during oocyte maturation and early embryonic development, as well as in nonsense-mediated decay (NMD) of mRNAs that contain premature stop codons. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PARP1	chr1	226360691	226408079	-	ENSG00000143799.12	protein_coding	ADPRT|ADPRT 1|ADPRT1|ARTD1|PARP|PARP-1|PPOL|pADPRT-1	1q42.12	poly(ADP-ribose) polymerase 1	This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. [provided by RefSeq, Jul 2008]
PARP10	chr8	143977153	144012772	-	ENSG00000178685.13	protein_coding	ARTD10	8q24.3	poly(ADP-ribose) polymerase family member 10	Poly(ADP-ribose) polymerases (PARPs), such as PARP10, regulate gene transcription by altering chromatin organization by adding ADP-ribose to histones. PARPs can also function as transcriptional cofactors (Yu et al., 2005 [PubMed 15674325]).[supplied by OMIM, Mar 2008]
PARP11	chr12	3791047	3873448	-	ENSG00000111224.13	protein_coding	ARTD11|C12orf6|MIB006	12p13.32	poly(ADP-ribose) polymerase family member 11	Ubiquitous expression in prostate (RPKM 3.6), testis (RPKM 3.6) and 25 other tissues
PARP12	chr7	140023744	140063721	-	ENSG00000059378.12	protein_coding	ARTD12|MST109|MSTP109|ZC3H1|ZC3HDC1	7q34	poly(ADP-ribose) polymerase family member 12	Ubiquitous expression in duodenum (RPKM 11.7), small intestine (RPKM 11.3) and 25 other tissues
PARP14	chr3	122680618	122730840	+	ENSG00000173193.13	protein_coding	ARTD8|BAL2|PARP-14|pART8	3q21.1	poly(ADP-ribose) polymerase family member 14	This gene encodes a member of the poly(ADP-ribose) polymerase (PARP) protein family. The encoded anti-apoptotic protein may regulate aerobic glycolysis and promote survival of cancer cells. Increased expression of this gene has been reported in a variety of tumor types. [provided by RefSeq, Jul 2016]
PARP15	chr3	122577602	122639047	+	ENSG00000173200.12	protein_coding	ARTD7|BAL3|pART7	3q21.1	poly(ADP-ribose) polymerase family member 15	PARP15 is a macrodomain-containing transcriptional repressor with poly(ADP-ribose) polymerase activity (Aguiar et al., 2005 [PubMed 16061477]).[supplied by OMIM, May 2008]
PARP16	chr15	65234460	65300618	-	ENSG00000138617.14	protein_coding	ARTD15|C15orf30|pART15	15q22.31	poly(ADP-ribose) polymerase family member 16	Ubiquitous expression in ovary (RPKM 4.7), endometrium (RPKM 3.3) and 25 other tissues
PARP2	chr14	20343582	20357905	+	ENSG00000129484.13	protein_coding	ADPRT2|ADPRTL2|ADPRTL3|ARTD2|PARP-2|pADPRT-2	14q11.2	poly(ADP-ribose) polymerase 2	This gene encodes poly(ADP-ribosyl)transferase-like 2 protein, which contains a catalytic domain and is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. The basic residues within the N-terminal region of this protein may bear potential DNA-binding properties, and may be involved in the nuclear and/or nucleolar targeting of the protein. Two alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jul 2008]
PARP3	chr3	51942345	51948867	+	ENSG00000041880.14	protein_coding	ADPRT3|ADPRTL2|ADPRTL3|ARTD3|IRT1|PADPRT-3	3p21.2	poly(ADP-ribose) polymerase family member 3	The protein encoded by this gene belongs to the PARP family. These enzymes modify nuclear proteins by poly-ADP-ribosylation, which is required for DNA repair, regulation of apoptosis, and maintenance of genomic stability. This gene encodes the poly(ADP-ribosyl)transferase 3, which is preferentially localized to the daughter centriole throughout the cell cycle. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PARP4	chr13	24420926	24512810	-	ENSG00000102699.5	protein_coding	ADPRTL1|ARTD4|PARP-4|PARPL|PH5P|VAULT3|VPARP|VWA5C|p193	13q12.12	poly(ADP-ribose) polymerase family member 4	This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus. [provided by RefSeq, Jul 2008]
PARP6	chr15	72241181	72272999	-	ENSG00000137817.16	protein_coding	ARTD17|PARP-6-B1|PARP-6-C|pART17	15q23	poly(ADP-ribose) polymerase family member 6	Ubiquitous expression in testis (RPKM 26.3), thyroid (RPKM 13.7) and 25 other tissues
PARP8	chr5	50665899	50846522	+	ENSG00000151883.17	protein_coding	ARTD16|pART16	5q11.1	poly(ADP-ribose) polymerase family member 8	Broad expression in bone marrow (RPKM 11.4), thyroid (RPKM 9.6) and 24 other tissues
PARP9	chr3	122527924	122564577	-	ENSG00000138496.16	protein_coding	ARTD9|BAL|BAL1|MGC:7868	3q21.1	poly(ADP-ribose) polymerase family member 9	Ubiquitous expression in spleen (RPKM 10.3), appendix (RPKM 10.1) and 25 other tissues
PARPBP	chr12	102120185	102197520	+	ENSG00000185480.11	protein_coding	AROM|C12orf48|PARI	12q23.2	PARP1 binding protein	Broad expression in bone marrow (RPKM 2.3), testis (RPKM 1.7) and 22 other tissues
PARS2	chr1	54756898	54764514	-	ENSG00000162396.5	protein_coding	DEE75|EIEE75|MT-PRORS|proRS	1p32.3	prolyl-tRNA synthetase 2, mitochondrial	This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of proline to tRNA molecules. Mutations have been found in this gene in some patients with Alpers syndrome. [provided by RefSeq, Mar 2015]
PART1	chr5	60487713	60547657	+	ENSG00000152931.7	lincRNA	NCRNA00206	5q12.1	prostate androgen-regulated transcript 1	This gene is induced by androgen in prostate adenocarcinoma cells. Multiple alternatively transcript variants have been described for this gene, none of which are predicted to encode a protein product. [provided by RefSeq, Sep 2009]
PARVA	chr11	12377185	12530801	+	ENSG00000197702.11	protein_coding	CH-ILKBP|MXRA2	11p15.3	parvin alpha	This gene encodes a member of the parvin family of actin-binding proteins. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin-linked kinase signaling complex and plays a role in cell adhesion, motility and survival. [provided by RefSeq, Dec 2010]
PARVG	chr22	44172956	44219533	+	ENSG00000138964.16	protein_coding	-	22q13.31	parvin gamma	Broad expression in spleen (RPKM 17.3), bone marrow (RPKM 16.9) and 19 other tissues
PASK	chr2	241106099	241150264	-	ENSG00000115687.13	protein_coding	PASKIN|STK37	2q37.3	PAS domain containing serine/threonine kinase	This gene encodes a member of the serine/threonine kinase family that contains two PAS domains. Expression of this gene is regulated by glucose, and the encoded protein plays a role in the regulation of insulin gene expression. Downregulation of this gene may play a role in type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PATE2	chr11	125776113	125778819	-	ENSG00000196844.8	protein_coding	C11orf38|PATE-M|UNQ3112	11q24.2	prostate and testis expressed 2	Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
PATJ	chr1	61742477	62178675	+	ENSG00000132849.19	protein_coding	Cipp|INADL|InaD-like|hINADL	1p31.3	PATJ crumbs cell polarity complex component	This gene encodes a protein with multiple PDZ domains. PDZ domains mediate protein-protein interactions, and proteins with multiple PDZ domains often organize multimeric complexes at the plasma membrane. This protein localizes to tight junctions and to the apical membrane of epithelial cells. A similar protein in Drosophila is a scaffolding protein which tethers several members of a multimeric signaling complex in photoreceptors. [provided by RefSeq, Jul 2008]
PATL1	chr11	59636716	59668980	-	ENSG00000166889.13	protein_coding	Pat1b|hPat1b	11q12.1	PAT1 homolog 1, processing body mRNA decay factor	Ubiquitous expression in bone marrow (RPKM 16.7), placenta (RPKM 9.5) and 25 other tissues
PATL2	chr15	44665732	44711316	-	ENSG00000229474.6	protein_coding	OOMD4|Pat1a|hPat1a	15q21.1	PAT1 homolog 2	Broad expression in spleen (RPKM 2.6), lymph node (RPKM 2.5) and 20 other tissues
PATZ1	chr22	31325804	31346232	-	ENSG00000100105.17	protein_coding	MAZR|PATZ|RIAZ|ZBTB19|ZNF278|ZSG|dJ400N23	22q12.2	POZ/BTB and AT hook containing zinc finger 1	The protein encoded by this gene contains an A-T hook DNA binding motif which usually binds to other DNA binding structures to play an important role in chromatin modeling and transcription regulation. Its Poz domain is thought to function as a site for protein-protein interaction and is required for transcriptional repression, and the zinc-fingers comprise the DNA binding domain. Since the encoded protein has typical features of a transcription factor, it is postulated to be a repressor of gene expression. In small round cell sarcoma, this gene is fused to EWS by a small inversion of 22q, then the hybrid is thought to be translocated (t(1;22)(p36.1;q12). The rearrangement of chromosome 22 involves intron 8 of EWS and exon 1 of this gene creating a chimeric sequence containing the transactivation domain of EWS fused to zinc finger domain of this protein. This is a distinct example of an intra-chromosomal rearrangement of chromosome 22. Four alternatively spliced transcript variants are described for this gene. [provided by RefSeq, Jul 2008]
PAWR	chr12	79574979	79691097	-	ENSG00000177425.10	protein_coding	PAR4|Par-4	12q21.2	pro-apoptotic WT1 regulator	This gene encodes a tumor suppressor protein that selectively induces apoptosis in cancer cells through intracellular and extracellular mechanisms. The intracellular mechanism involves the inhibition of pro-survival pathways and the activation of Fas-mediated apoptosis, while the extracellular mechanism involves the binding of a secreted form of this protein to glucose regulated protein 78 (GRP78) on the cell surface, which leads to activation of the extrinsic apoptotic pathway. This gene is located on the unstable human chromosomal 12q21 region and is often deleted or mutated different tumors. The encoded protein also plays an important role in the progression of age-related diseases. [provided by RefSeq, Aug 2017]
PAX1	chr20	21705659	21718486	+	ENSG00000125813.13	protein_coding	HUP48|OFC2	20p11.22	paired box 1	This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012]
PAX2	chr10	100735603	100829941	+	ENSG00000075891.21	protein_coding	FSGS7|PAPRS	10q24.31	paired box 2	PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor suppressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PAX3	chr2	222199888	222298996	-	ENSG00000135903.18	protein_coding	CDHS|HUP2|WS1|WS3	2q36.1	paired box 3	This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]
PAX5	chr9	36833275	37034185	-	ENSG00000196092.12	protein_coding	ALL3|BSAP	9p13.2	paired box 5	This gene encodes a member of the paired box (PAX) family of transcription factors. The central feature of this gene family is a novel, highly conserved DNA-binding motif, known as the paired box. Paired box transcription factors are important regulators in early development, and alterations in the expression of their genes are thought to contribute to neoplastic transformation. This gene encodes the B-cell lineage specific activator protein that is expressed at early, but not late stages of B-cell differentiation. Its expression has also been detected in developing CNS and testis and so the encoded protein may also play a role in neural development and spermatogenesis. This gene is located at 9p13, which is involved in t(9;14)(p13;q32) translocations recurring in small lymphocytic lymphomas of the plasmacytoid subtype, and in derived large-cell lymphomas. This translocation brings the potent E-mu enhancer of the IgH gene into close proximity of the PAX5 promoter, suggesting that the deregulation of transcription of this gene contributes to the pathogenesis of these lymphomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PAX6	chr11	31784779	31818062	-	ENSG00000007372.21	protein_coding	AN|AN1|AN2|ASGD5|D11S812E|FVH1|MGDA|WAGR	11p13	paired box 6	This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, the encoded protein also contains a homeobox domain. Both domains are known to bind DNA and function as regulators of gene transcription. Activity of this protein is key in the development of neural tissues, particularly the eye. This gene is regulated by multiple enhancers located up to hundreds of kilobases distant from this locus. Mutations in this gene or in the enhancer regions can cause ocular disorders such as aniridia and Peters anomaly. Use of alternate promoters and alternative splicing results in multiple transcript variants encoding different isoforms. Interestingly, inclusion of a particular alternate coding exon has been shown to increase the length of the paired box domain and alter its DNA binding specificity. Consequently, isoforms that carry the shorter paired box domain regulate a different set of genes compared to the isoforms carrying the longer paired box domain. [provided by RefSeq, Mar 2019]
PAX7	chr1	18631006	18748866	+	ENSG00000009709.11	protein_coding	HUP1|MYOSCO|PAX7B|RMS2	1p36.13	paired box 7	This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
PAX8	chr2	113215997	113278950	-	ENSG00000125618.16	protein_coding	-	2q14.1	paired box 8	Biased expression in thyroid (RPKM 261.2) and kidney (RPKM 40.3)
PAX8-AS1	chr2	113211522	113276581	+	ENSG00000189223.14	processed_transcript	-	2q14.1	PAX8 antisense RNA 1	-
PAX9	chr14	36657568	36679715	+	ENSG00000198807.12	protein_coding	STHAG3	14q13.3	paired box 9	This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. Mice lacking this gene exhibit impaired development of organs, musculature and the skeleton, including absent and abnormally developed teeth, and neonatal lethality. Mutations in the human gene are associated with selective tooth agenesis-3. [provided by RefSeq, Sep 2015]
PAXBP1	chr21	32733899	32771858	-	ENSG00000159086.14	protein_coding	BM020|C21orf66|FSAP105|GCFC|GCFC1	21q22.11	PAX3 and PAX7 binding protein 1	This gene encodes a protein that may bind to GC-rich DNA sequences, which suggests its involvement in the regulation of transcription. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2009]
PAXIP1-AS2	chr7	154928498	154949908	+	ENSG00000214106.7	antisense	PAXIP1OS	7q36.2	PAXIP1 antisense RNA 2	-
PAXX	chr9	 136992422	136993976	+	ENSG00000148362	protein-coding	C9orf142|XLS	9q34.3	PAXX non-homologous end joining factor	The protein encoded by this gene plays a role in the nonhomologous end joining (NHEJ) pathway of DNA double-strand break repair. The encoded protein may function to stabilize the Ku70/Ku80 heterodimer to facilitate the assembly and maintain the stability of the NHEJ complex. [provided by RefSeq, Jul 2016]
PBK	chr8	27809620	27838095	-	ENSG00000168078.9	protein_coding	CT84|HEL164|Nori-3|SPK|TOPK	8p21.1	PDZ binding kinase	This gene encodes a serine/threonine protein kinase related to the dual specific mitogen-activated protein kinase kinase (MAPKK) family. Evidence suggests that mitotic phosphorylation is required for its catalytic activity. The encoded protein may be involved in the activation of lymphoid cells and support testicular functions, with a suggested role in the process of spermatogenesis. Overexpression of this gene has been implicated in tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PBLD	chr10	68282660	68333049	-	ENSG00000108187.15	protein_coding	HEL-S-306|MAWBP|MAWDBP	10q21.3	phenazine biosynthesis like protein domain containing	Biased expression in kidney (RPKM 94.0), duodenum (RPKM 62.5) and 5 other tissues
PBRM1	chr3	52545352	52685917	-	ENSG00000163939.18	protein_coding	BAF180|PB1|RCC|SMARCH1	3p21.1	polybromo 1	This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012]
PBX1	chr1	164555584	164899296	+	ENSG00000185630.18	protein_coding	CAKUHED	1q23.3	PBX homeobox 1	This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain of E2A is replaced by the DNA binding domain of this protein, transforms cells by constitutively activating transcription of genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]
PBX2	chr6	32184741	32190186	-	ENSG00000204304.11	protein_coding	G17|HOX12|PBX2MHC	6p21.32	PBX homeobox 2	This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008]
PBX2P1	chr3	143176327	143177617	+	ENSG00000244171.4	processed_pseudogene	PBX2|PBXP1	3q24	PBX homeobox 2 pseudogene 1	-
PBX3	chr9	125747345	125967377	+	ENSG00000167081.16	protein_coding	-	9q33.3	PBX homeobox 3	-
PBX4	chr19	19561707	19618916	-	ENSG00000105717.13	protein_coding	-	19p13.11	PBX homeobox 4	Broad expression in thyroid (RPKM 3.9), testis (RPKM 2.5) and 18 other tissues
PBXIP1	chr1	154944076	154956123	-	ENSG00000163346.16	protein_coding	HPIP	1q21.3	PBX homeobox interacting protein 1	The protein encoded by this gene interacts with the PBX1 homeodomain protein, inhibiting its transcriptional activation potential by preventing its binding to DNA. The encoded protein, which is primarily cytosolic but can shuttle to the nucleus, also can interact with estrogen receptors alpha and beta and promote the proliferation of breast cancer, brain tumors, and lung cancer. Several transcript variants encoding different isoforms have been found for this gene. More variants exist, but their full-length natures have yet to be determined. [provided by RefSeq, Dec 2015]
PC	chr11	66848233	66958376	-	ENSG00000173599.13	protein_coding	PCB	11q13.2	pyruvate carboxylase	This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5 UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
PCAT4	chr4	79827471	79877770	+	ENSG00000251321.1	lincRNA	GDEP|PCA4|PCAN1	4q21.21	prostate cancer associated transcript 4	Restricted expression toward prostate (RPKM 24.7)
PCBD1	chr10	70882280	70888784	-	ENSG00000166228.8	protein_coding	DCOH|PCBD|PCD|PHS	10q22.1	pterin-4 alpha-carbinolamine dehydratase 1	This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PCBD2	chr5	134904906	135007959	+	ENSG00000132570.14	protein_coding	DCOH2|DCOHM|PHS2	5q31.1	pterin-4 alpha-carbinolamine dehydratase 2	Predicted to enable 4-alpha-hydroxytetrahydrobiopterin dehydratase activity. Involved in positive regulation of transcription, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
PCBP1	chr2	70087454	70089203	+	ENSG00000169564.6	protein_coding	HEL-S-85|HNRPE1|HNRPX|hnRNP-E1|hnRNP-X	2p13.3	poly(rC) binding protein 1	This intronless gene is thought to have been generated by retrotransposition of a fully processed PCBP-2 mRNA. This gene and PCBP-2 have paralogues (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. The protein encoded by this gene appears to be multifunctional. It along with PCBP-2 and hnRNPK corresponds to the major cellular poly(rC)-binding protein. It contains three K-homologous (KH) domains which may be involved in RNA binding. This encoded protein together with PCBP-2 also functions as translational coactivators of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES and promote poliovirus RNA replication by binding to its 5-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxygenase mRNA, human Papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. [provided by RefSeq, Jul 2008]
PCBP1-AS1	chr2	69962263	70103220	-	ENSG00000179818.13	processed_transcript	-	2p13.3	PCBP1 antisense RNA 1	-
PCBP2	chr12	53452102	53481162	+	ENSG00000197111.15	protein_coding	HNRNPE2|HNRPE2|hnRNP-E2	12q13.13	poly(rC) binding protein 2	The protein encoded by this gene appears to be multifunctional. Along with PCBP-1 and hnRNPK, it is one of the major cellular poly(rC)-binding proteins. The encoded protein contains three K-homologous (KH) domains which may be involved in RNA binding. Together with PCBP-1, this protein also functions as a translational coactivator of poliovirus RNA via a sequence-specific interaction with stem-loop IV of the IRES, promoting poliovirus RNA replication by binding to its 5-terminal cloverleaf structure. It has also been implicated in translational control of the 15-lipoxygenase mRNA, human papillomavirus type 16 L2 mRNA, and hepatitis A virus RNA. The encoded protein is also suggested to play a part in formation of a sequence-specific alpha-globin mRNP complex which is associated with alpha-globin mRNA stability. This multiexon structural mRNA is thought to be retrotransposed to generate PCBP-1, an intronless gene with functions similar to that of PCBP2. This gene and PCBP-1 have paralogous genes (PCBP3 and PCBP4) which are thought to have arisen as a result of duplication events of entire genes. This gene also has two processed pseudogenes (PCBP2P1 and PCBP2P2). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2018]
PCBP2P1	chr21	39171130	39172106	-	ENSG00000235701.1	processed_pseudogene	-	21q22.2	poly(rC) binding protein 2 pseudogene 1	-
PCBP3	chr21	45643694	45942454	+	ENSG00000183570.16	protein_coding	ALPHA-CP3|PCBP3-OT1|PCBP3OT	21q22.3	poly(rC) binding protein 3	This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. The protein encoded by this gene lacks the nuclear localization signals found in other subfamily members. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2017]
PCBP4	chr3	51957454	51974016	-	ENSG00000090097.21	protein_coding	CBP|LIP4|MCG10	3p21.2	poly(rC) binding protein 4	This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. This gene is induced by the p53 tumor suppressor, and the encoded protein can suppress cell proliferation by inducing apoptosis and cell cycle arrest in G(2)-M. This genes protein is found in the cytoplasm, yet it lacks the nuclear localization signals found in other subfamily members. Multiple alternatively spliced transcript variants have been described, but the full-length nature for only some has been determined. [provided by RefSeq, Jul 2008]
PCCA	chr13	100089015	100530437	+	ENSG00000175198.15	protein_coding	-	13q32.3	propionyl-CoA carboxylase subunit alpha	Broad expression in kidney (RPKM 11.9), liver (RPKM 5.1) and 23 other tissues
PCCB	chr3	136250306	136337896	+	ENSG00000114054.13	protein_coding	-	3q22.3	propionyl-CoA carboxylase subunit beta	Ubiquitous expression in liver (RPKM 38.7), kidney (RPKM 36.6) and 25 other tissues
PCDH1	chr5	141853111	141879246	-	ENSG00000156453.13	protein_coding	PC42|PCDH42	5q31.3	protocadherin 1	This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The protein includes an extracelllular region, containing 7 cadherin-like domains, a transmembrane region and a C-terminal cytoplasmic region. Cells expressing the protein showed cell aggregation activity. Alternative splicing occurs in this gene. [provided by RefSeq, Jul 2008]
PCDH10	chr4	133149315	133208606	+	ENSG00000138650.8	protein_coding	OL-PCDH|PCDH19	4q28.3	protocadherin 10	This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein is a cadherin-related neuronal receptor thought to function in the establishment of specific cell-cell connections in the brain. This gene plays a role in inhibiting cancer cell motility and cell migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
PCDH12	chr5	141943585	141969741	-	ENSG00000113555.5	protein_coding	DMJDS1|VE-cadherin-2|VECAD2	5q31.3	protocadherin 12	This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no affect on cell migration or growth. [provided by RefSeq, Jul 2008]
PCDH15	chr10	53802771	55627942	-	ENSG00000150275.17	protein_coding	CDHR15|DFNB23|USH1F	10q21.1	protocadherin related 15	This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]
PCDH17	chr13	57631810	57729311	+	ENSG00000118946.11	protein_coding	PCDH68|PCH68	13q21.1	protocadherin 17	This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]
PCDH20	chr13	61409685	61415522	-	ENSG00000280165.1	protein_coding	PCDH13	13q21.2	protocadherin 20	This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]
PCDH7	chr4	30720415	31146805	+	ENSG00000169851.15	protein_coding	BH-Pcdh|BHPCDH|PPP1R120	4p15.1	protocadherin 7	This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008]
PCDH8	chr13	52842889	52848641	-	ENSG00000136099.13	protein_coding	ARCADLIN|PAPC	13q14.3	protocadherin 8	This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes an integral membrane protein that is thought to function in cell adhesion in a CNS-specific manner. Unlike classical cadherins, which are generally encoded by 15-17 exons, this gene includes only 3 exons. Notable is the large first exon encoding the extracellular region, including 6 cadherin domains and a transmembrane region. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008]
PCDH8P1	chr13	53199981	53202753	+	ENSG00000225510.2	transcribed_processed_pseudogene	-	13q14.3	protocadherin 8 pseudogene 1	-
PCDH9	chr13	66302834	67230445	-	ENSG00000184226.14	protein_coding	-	13q21.32	protocadherin 9	Biased expression in brain (RPKM 8.9), fat (RPKM 0.9) and 2 other tissues
PCDHA1	chr5	140786136	141012347	+	ENSG00000204970.9	protein_coding	PCDH-ALPHA1	5q31.3	protocadherin alpha 1	This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
PCDHA10	chr5	140855883	141012344	+	ENSG00000250120.6	protein_coding	CNR8|CNRN8|CNRS8|CRNR8|PCDH-ALPHA10	5q31.3	protocadherin alpha 10	This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
PCDHA11	chr5	140868183	141012344	+	ENSG00000249158.6	protein_coding	CNR7|CNRN7|CNRS7|CRNR7|PCDH-ALPHA11	5q31.3	protocadherin alpha 11	This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
PCDHA12	chr5	140875302	141012344	+	ENSG00000251664.3	protein_coding	PCDH-ALPHA12	5q31.3	protocadherin alpha 12	This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
PCDHA13	chr5	140882208	141012344	+	ENSG00000239389.7	protein_coding	CNR5|CNRN5|CNRS5|CRNR5|PCDH-ALPHA13	5q31.3	protocadherin alpha 13	This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
PCDHA14	chr5	140861224	140863521	+	ENSG00000249504.3	transcribed_unprocessed_pseudogene	CNR3|CNRN3|CNRS3|CRNR3|PCDH-PSI4	5q31.3	protocadherin alpha 14 pseudogene	-
PCDHA2	chr5	140794852	141012344	+	ENSG00000204969.6	protein_coding	PCDH-ALPHA2	5q31.3	protocadherin alpha 2	This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
PCDHA3	chr5	140801028	141012344	+	ENSG00000255408.3	protein_coding	PCDH-ALPHA3	5q31.3	protocadherin alpha 3	This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
PCDHA4	chr5	140806929	141012344	+	ENSG00000204967.10	protein_coding	CNR1|CNRN1|CRNR1|PCDH-ALPHA4	5q31.3	protocadherin alpha 4	This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
PCDHA5	chr5	140821604	141012344	+	ENSG00000204965.8	protein_coding	CNR6|CNRN6|CNRS6|CRNR6|PCDH-ALPHA5	5q31.3	protocadherin alpha 5	This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
PCDHA6	chr5	140827958	141012344	+	ENSG00000081842.17	protein_coding	CNR2|CNRN2|CNRS2|CRNR2|PCDH-ALPHA6	5q31.3	protocadherin alpha 6	This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
PCDHA7	chr5	140834248	141012344	+	ENSG00000204963.5	protein_coding	CNR4|CNRN4|CNRS4|CRNR4|PCDH-ALPHA7	5q31.3	protocadherin alpha 7	This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
PCDHA8	chr5	140841187	141012344	+	ENSG00000204962.5	protein_coding	PCDH-ALPHA8	5q31.3	protocadherin alpha 8	This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
PCDHA9	chr5	140847463	141012344	+	ENSG00000204961.6	protein_coding	PCDH-ALPHA9	5q31.3	protocadherin alpha 9	This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
PCDHAC1	chr5	140926369	141012344	+	ENSG00000248383.4	protein_coding	PCDH-ALPHA-C1	5q31.3	protocadherin alpha subfamily C, 1	This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
PCDHAC2	chr5	140966235	141012344	+	ENSG00000243232.4	protein_coding	PCDH-ALPHA-C2	5q31.3	protocadherin alpha subfamily C, 2	This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
PCDHB10	chr5	141192353	141195642	+	ENSG00000120324.8	protein_coding	PCDH-BETA10|PCHB10	5q31.3	protocadherin beta 10	This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3 exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
PCDHB11	chr5	141199582	141203779	+	ENSG00000197479.6	protein_coding	ME2|PCDH-BETA11	5q31.3	protocadherin beta 11	This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3 exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
PCDHB12	chr5	141208697	141212571	+	ENSG00000120328.6	protein_coding	PCDH-BETA12	5q31.3	protocadherin beta 12	This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3 exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
PCDHB13	chr5	141213919	141218979	+	ENSG00000187372.11	protein_coding	PCDH-BETA13	5q31.3	protocadherin beta 13	This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3 exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
PCDHB14	chr5	141222932	141227759	+	ENSG00000120327.6	protein_coding	PCDH-BETA14	5q31.3	protocadherin beta 14	This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3 exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
PCDHB15	chr5	141245349	141249365	+	ENSG00000113248.5	protein_coding	PCDH-BETA15	5q31.3	protocadherin beta 15	This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3 exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
PCDHB16	chr5	141181399	141186399	+	ENSG00000272674.3	protein_coding	ME1|PCDH-BETA16|PCDH3X|PCDHB8a	5q31.3	protocadherin beta 16	This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3 exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
PCDHB17P	chr5	141155996	141159061	+	ENSG00000255622.3	transcribed_unprocessed_pseudogene	ME4|PCDH-psi1|PCDHB17	5q31.3	protocadherin beta 17 pseudogene	-
PCDHB18P	chr5	141234333	141237529	+	ENSG00000146001.5	transcribed_unprocessed_pseudogene	PCDH-psi2|PCDHB18	5q31.3	protocadherin beta 18 pseudogene	-
PCDHB19P	chr5	141239923	141243034	+	ENSG00000262096.2	transcribed_unprocessed_pseudogene	PCDH-PSI5|PCDHB19	5q31.3	protocadherin beta 19 pseudogene	-
PCDHB2	chr5	141094578	141098703	+	ENSG00000112852.6	protein_coding	PCDH-BETA2	5q31.3	protocadherin beta 2	This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3 exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
PCDHB3	chr5	141100473	141103827	+	ENSG00000113205.5	protein_coding	PCDH-BETA3	5q31.3	protocadherin beta 3	This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3 exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
PCDHB4	chr5	141121799	141125623	+	ENSG00000081818.3	protein_coding	PCDH-BETA4	5q31.3	protocadherin beta 4	This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3 exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
PCDHB5	chr5	141135218	141138625	+	ENSG00000113209.8	protein_coding	PCDH-BETA5	5q31.3	protocadherin beta 5	This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3 exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
PCDHB6	chr5	141150022	141153287	+	ENSG00000113211.5	protein_coding	PCDH-BETA6	5q31.3	protocadherin beta 6	This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. Unlike the alpha and gamma clusters, the transcripts from these genes do not share common 3 exons. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell neural connections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PCDHB7	chr5	141172619	141176383	+	ENSG00000113212.6	protein_coding	PCDH-BETA7	5q31.3	protocadherin beta 7	This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3 exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. The transcript for this particular family member uses more than one polyadenylation site. [provided by RefSeq, Jul 2008]
PCDHB8	chr5	141177790	141180529	+	ENSG00000120322.3	protein_coding	PCDH-BETA8|PCDH3I	5q31.3	protocadherin beta 8	This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3 exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
PCDHB9	chr5	141187127	141191541	+	ENSG00000177839.6	protein_coding	PCDH-BETA9|PCDH3H	5q31.3	protocadherin beta 9	This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3 exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]
PCDHGA1	chr5	141330571	141512981	+	ENSG00000204956.5	protein_coding	PCDH-GAMMA-A1	5q31.3	protocadherin gamma subfamily A, 1	This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
PCDHGA10	chr5	141412987	141512979	+	ENSG00000253846.2	protein_coding	PCDH-GAMMA-A10	5q31.3	protocadherin gamma subfamily A, 10	This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
PCDHGA11	chr5	141421047	141512979	+	ENSG00000253873.5	protein_coding	PCDH-GAMMA-A11	5q31.3	protocadherin gamma subfamily A, 11	This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
PCDHGA12	chr5	141430589	141512979	+	ENSG00000253159.2	protein_coding	CDH21|FIB3|PCDH-GAMMA-A12	5q31.3	protocadherin gamma subfamily A, 12	This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
PCDHGA2	chr5	141338760	141512979	+	ENSG00000081853.14	protein_coding	PCDH-GAMMA-A2	5q31.3	protocadherin gamma subfamily A, 2	This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
PCDHGA3	chr5	141343829	141512979	+	ENSG00000254245.2	protein_coding	PCDH-GAMMA-A3	5q31.3	protocadherin gamma subfamily A, 3	This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
PCDHGA5	chr5	141364232	141512979	+	ENSG00000253485.2	protein_coding	CDH-GAMMA-A5|ME3|PCDH-GAMMA-A5	5q31.3	protocadherin gamma subfamily A, 5	This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
PCDHGA6	chr5	141373914	141512979	+	ENSG00000253731.2	protein_coding	PCDH-GAMMA-A6	5q31.3	protocadherin gamma subfamily A, 6	This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
PCDHGA9	chr5	141402932	141512979	+	ENSG00000261934.2	protein_coding	PCDH-GAMMA-A9	5q31.3	protocadherin gamma subfamily A, 9	This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
PCDHGB1	chr5	141350102	141512979	+	ENSG00000254221.2	protein_coding	PCDH-GAMMA-B1	5q31.3	protocadherin gamma subfamily B, 1	This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
PCDHGB2	chr5	141360042	141512979	+	ENSG00000253910.2	protein_coding	PCDH-GAMMA-B2	5q31.3	protocadherin gamma subfamily B, 2	This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
PCDHGB4	chr5	141387698	141512979	+	ENSG00000253953.2	protein_coding	CDH20|FIB2|PCDH-GAMMA-B4	5q31.3	protocadherin gamma subfamily B, 4	This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. This particular family member is expressed in fibroblasts and is thought to play a role in wound healing in response to injury. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
PCDHGB5	chr5	141397987	141512979	+	ENSG00000276547.1	protein_coding	PCDH-GAMMA-B5	5q31.3	protocadherin gamma subfamily B, 5	This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
PCDHGB7	chr5	141417645	141512979	+	ENSG00000254122.2	protein_coding	ME6|PCDH-GAMMA-B7	5q31.3	protocadherin gamma subfamily B, 7	This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
PCDHGC3	chr5	141475947	141512979	+	ENSG00000240184.6	protein_coding	PC43|PCDH-GAMMA-C3|PCDH2	5q31.3	protocadherin gamma subfamily C, 3	This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
PCDHGC4	chr5	141484997	141512979	+	ENSG00000242419.5	protein_coding	PCDH-GAMMA-C4	5q31.3	protocadherin gamma subfamily C, 4	This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
PCDHGC5	chr5	141489121	141512979	+	ENSG00000240764.3	protein_coding	PCDH-GAMMA-C5	5q31.3	protocadherin gamma subfamily C, 5	This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]
PCED1A	chr20	2835314	2841190	-	ENSG00000132635.16	protein_coding	C20orf81|FAM113A|bA12M19.1	20p13	PC-esterase domain containing 1A	The protein encoded by this gene is a member of the GDSL/SGNH superfamily. Members of this family are hydrolytic enzymes with esterase and lipase activity and broad substrate specificity. This protein belongs to the Pmr5-Cas1p-esterase subfamily in that it contains the catalytic triad comprised of serine, aspartate and histidine and lacks two conserved regions (glycine after strand S2 and GxND motif). A pseudogene of this gene has been identified on the long arm of chromosome 2. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Sep 2012]
PCED1B	chr12	47079603	47236662	+	ENSG00000179715.12	protein_coding	FAM113B	12q13.11	PC-esterase domain containing 1B	This gene encodes a protein that belongs to the GDSL/SGNH-like acyl-esterase family. Members of this family are hydrolases thought to function in modification of biopolymers on the cell surface. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PCGF2	chr17	38733897	38749817	-	ENSG00000277258.4	protein_coding	MEL-18|RNF110|TPFS|ZNF144	17q12	polycomb group ring finger 2	The protein encoded by this gene contains a RING finger motif and is similar to the polycomb group (PcG) gene products. PcG gene products form complexes via protein-protein interaction and maintain the transcription repression of genes involved in embryogenesis, cell cycles, and tumorigenesis. This protein was shown to act as a negative regulator of transcription and has tumor suppressor activity. The expression of this gene was detected in various tumor cells, but is limited in neural organs in normal tissues. Knockout studies in mice suggested that this protein may negatively regulate the expression of different cytokines, chemokines, and chemokine receptors, and thus plays an important role in lymphocyte differentiation and migration, as well as in immune responses. [provided by RefSeq, Jul 2008]
PCGF3	chr4	705748	770640	+	ENSG00000185619.18	protein_coding	DONG1|RNF3|RNF3A	4p16.3	polycomb group ring finger 3	The protein encoded by this gene contains a C3HC4 type RING finger, which is a motif known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. [provided by RefSeq, Jul 2008]
PCGF5	chr10	91163012	91284331	+	ENSG00000180628.14	protein_coding	RNF159	10q23.32	polycomb group ring finger 5	Ubiquitous expression in thyroid (RPKM 14.7), adrenal (RPKM 12.4) and 25 other tissues
PCGF6	chr10	103302796	103351134	-	ENSG00000156374.14	protein_coding	MBLR|RNF134	10q24.33	polycomb group ring finger 6	The protein encoded by this gene contains a RING finger motif, which is most closely related to those of polycomb group (PcG) proteins RNF110/MEL-18 and BMI1. PcG proteins are known to form protein complexes and function as transcription repressors. This protein has been shown to interact with some PcG proteins and act as a transcription repressor. The activity of this protein is found to be regulated by cell cycle dependent phosphorylation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PCID2	chr13	113177539	113208715	-	ENSG00000126226.21	protein_coding	F10	13q34	PCI domain containing 2	This gene encodes a component of the TREX-2 complex (transcription and export complex 2), which regulates mRNA export from the nucleus. This protein regulates expression of Mad2 mitotic arrest deficient-like 1, a cell division checkpoint protein. This protein also interacts with and stabilizes Brca2 (breast cancer 2) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PCIF1	chr20	45934628	45948023	+	ENSG00000100982.11	protein_coding	C20orf67|CAPAM|PPP1R121|hCAPAM|hPCIF1	20q13.12	phosphorylated CTD interacting factor 1	Ubiquitous expression in ovary (RPKM 21.7), thyroid (RPKM 17.5) and 25 other tissues
PCK2	chr14	24094053	24110598	+	ENSG00000100889.11	protein_coding	PEPCK|PEPCK-M|PEPCK2	14q11.2-q12	phosphoenolpyruvate carboxykinase 2, mitochondrial	This gene encodes a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of guanosine triphosphate (GTP). A cytosolic form of this protein is encoded by a different gene and is the key enzyme of gluconeogenesis in the liver. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2014]
PCLAF	chr15	64364311	64387687	-	ENSG00000166803.11	protein_coding	KIAA0101|L5|NS5ATP9|OEATC|OEATC-1|OEATC1|PAF|PAF15|p15(PAF)|p15/PAF|p15PAF	15q22.31	PCNA clamp associated factor	Biased expression in bone marrow (RPKM 26.4), lymph node (RPKM 13.8) and 11 other tissues
PCM1	chr8	17922840	18029944	+	ENSG00000078674.17	protein_coding	PTC4|RET/PCM-1	8p22	pericentriolar material 1	The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centrosome. Chromosomal aberrations involving this gene are associated with papillary thyroid carcinomas and a variety of hematological malignancies, including atypical chronic myeloid leukemia and T-cell lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PCMT1	chr6	149749443	149811420	+	ENSG00000120265.16	protein_coding	PIMT	6q25.1	protein-L-isoaspartate (D-aspartate) O-methyltransferase	This gene encodes a member of the type II class of protein carboxyl methyltransferase enzymes. The encoded enzyme plays a role in protein repair by recognizing and converting D-aspartyl and L-isoaspartyl residues resulting from spontaneous deamidation back to the normal L-aspartyl form. The encoded protein may play a protective role in the pathogenesis of Alzheimers disease, and single nucleotide polymorphisms in this gene have been associated with spina bifida and premature ovarian failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
PCMTD1	chr8	51817575	51899186	-	ENSG00000168300.13	protein_coding	-	8q11.23	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	-
PCMTD2	chr20	64255695	64287821	+	ENSG00000203880.11	protein_coding	C20orf36	20q13.33	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	Ubiquitous expression in ovary (RPKM 29.8), skin (RPKM 21.9) and 25 other tissues
PCNA	chr20	5114953	5126626	-	ENSG00000132646.10	protein_coding	ATLD2	20p12.3	proliferating cell nuclear antigen	The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008]
PCNP	chr3	101574095	101594437	+	ENSG00000081154.11	protein_coding	-	3q12.3	PEST proteolytic signal containing nuclear protein	-
PCNPP5	chr13	48328084	48328564	-	ENSG00000177197.7	processed_pseudogene	-	13q14.2	PEST containing nuclear protein pseudogene 5	-
PCNT	chr21	46324122	46445769	+	ENSG00000160299.16	protein_coding	KEN|MOPD2|PCN|PCNT2|PCNTB|PCTN2|SCKL4	21q22.3	pericentrin	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PCNX1	chr14	70907405	71115382	+	ENSG00000100731.15	protein_coding	PCNX|PCNXL1|pecanex	14q24.2	pecanex 1	This gene encodes an evolutionarily conserved transmembrane protein similar to the pecanex protein in Drosophila. The fly protein is a component of the Notch signaling pathway, which functions in several developmental processes. [provided by RefSeq, Jul 2016]
PCNX3	chr11	65615773	65637439	+	ENSG00000197136.4	protein_coding	PCNXL3	11q13.1	pecanex 3	Ubiquitous expression in testis (RPKM 9.4), spleen (RPKM 6.0) and 25 other tissues
PCNX4	chr14	60091911	60169133	+	ENSG00000126773.12	protein_coding	C14orf135|FBP2|PCNXL4	14q23.1	pecanex 4	Ubiquitous expression in prostate (RPKM 4.7), endometrium (RPKM 4.5) and 25 other tissues
PCOLCE	chr7	100602177	100608175	+	ENSG00000106333.12	protein_coding	PCPE|PCPE-1|PCPE1	7q22.1	procollagen C-endopeptidase enhancer	Fibrillar collagen types I-III are synthesized as precursor molecules known as procollagens. These precursors contain amino- and carboxyl-terminal peptide extensions known as N- and C-propeptides, respectively, which are cleaved, upon secretion of procollagen from the cell, to yield the mature triple helical, highly structured fibrils. This gene encodes a glycoprotein which binds and drives the enzymatic cleavage of type I procollagen and heightens C-proteinase activity. [provided by RefSeq, Jul 2008]
PCOLCE-AS1	chr7	100589402	100604206	-	ENSG00000224729.5	antisense	-	7q22.1	PCOLCE antisense RNA 1	-
PCOLCE2	chr3	142815922	142889203	-	ENSG00000163710.7	protein_coding	PCPE2	3q23	procollagen C-endopeptidase enhancer 2	Biased expression in fat (RPKM 75.7), heart (RPKM 31.8) and 9 other tissues
PCOTH	chr13	23888889	23897263	+	ENSG00000205861.11	protein_coding	C1QTNF9B-AS1	13q12.12	prostate and testis expressed opposite C1QTNF9B and MIPEP	Broad expression in testis (RPKM 11.5), prostate (RPKM 9.5) and 14 other tissues
PCP2	chr19	7631611	7633748	-	ENSG00000174788.9	protein_coding	GPSM4|PCD5	19p13.2	Purkinje cell protein 2	Biased expression in testis (RPKM 11.4), salivary gland (RPKM 2.1) and 8 other tissues
PCP4L1	chr1	161258727	161285450	+	ENSG00000248485.1	protein_coding	IQM1	1q23.3	Purkinje cell protein 4 like 1	Biased expression in urinary bladder (RPKM 16.5), brain (RPKM 14.3) and 10 other tissues
PCSK1	chr5	96390415	96434143	-	ENSG00000175426.10	protein_coding	BMIQ12|NEC1|PC1|PC3|SPC3	5q15	proprotein convertase subtilisin/kexin type 1	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to subcellular compartments where a second autocatalytic even takes place and the catalytic activity is acquired. The protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide hormones and neuropeptides precursors. Mutations in this gene have been associated with susceptibility to obesity and proprotein convertase 1/3 deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene [provided by RefSeq, Jan 2014]
PCSK2	chr20	17226107	17484578	+	ENSG00000125851.9	protein_coding	NEC 2|NEC-2|NEC2|PC2|SPC2	20p12.1	proprotein convertase subtilisin/kexin type 2	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The protein undergoes an initial autocatalytic processing event and interacts with a neuroendocrine secretory protein in the ER, exits the ER and sorts to secretory granules, where it is cleaved and catalytically activated during intracellular transport. The encoded protease is packaged into and activated in dense core secretory granules and expressed in the neuroendocrine system and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It functions in the proteolytic activation of polypeptide hormones and neuropeptides precursors. Single nucleotide polymorphisms in this gene may increase susceptibility to myocardial infarction and type 2 diabetes. This gene may also play a role in tumor development and progression. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2014]
PCSK5	chr9	75890644	76362339	+	ENSG00000099139.13	protein_coding	PC5|PC6|PC6A|SPC6	9q21.13	proprotein convertase subtilisin/kexin type 5	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER. It then sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. This encoded protein is widely expressed and one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It mediates posttranslational endoproteolytic processing for several integrin alpha subunits and is thought to process prorenin, pro-membrane type-1 matrix metalloproteinase and HIV-1 glycoprotein gp160. Alternative splicing results in multiple transcript variants, some of which encode distinct isoforms, including a protease packaged into dense core granules (PC5A) and a type 1 membrane bound protease (PC5B). [provided by RefSeq, May 2014]
PCSK6	chr15	101297142	101525202	-	ENSG00000140479.16	protein_coding	PACE4|SPC4	15q26.3	proprotein convertase subtilisin/kexin type 6	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. The encoded protease is constitutively secreted into the extracellular matrix and expressed in many tissues, including neuroendocrine, liver, gut, and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include transforming growth factor beta related proteins, proalbumin, and von Willebrand factor. This gene is thought to play a role in tumor progression and left-right patterning. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2014]
PCSK7	chr11	117204337	117232525	-	ENSG00000160613.12	protein_coding	LPC|PC7|PC8|SPC7	11q23.3	proprotein convertase subtilisin/kexin type 7	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. It can process proalbumin and is thought to be responsible for the activation of HIV envelope glycoproteins gp160 and gp140. This gene has been implicated in the transcriptional regulation of housekeeping genes and plays a role in the regulation of iron metabolism. A t(11;14)(q23;q32) chromosome translocation associated with B-cell lymphoma occurs between this gene and its inverted counterpart. [provided by RefSeq, Feb 2014]
PCSK9	chr1	55039548	55064852	+	ENSG00000169174.10	protein_coding	FH3|FHCL3|HCHOLA3|LDLCQ1|NARC-1|NARC1|PC9	1p32.3	proprotein convertase subtilisin/kexin type 9	This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an autocatalytic processing event with its prosegment in the ER and is constitutively secreted as an inactive protease into the extracellular matrix and trans-Golgi network. It is expressed in liver, intestine and kidney tissues and escorts specific receptors for lysosomal degradation. It plays a role in cholesterol and fatty acid metabolism. Mutations in this gene have been associated with autosomal dominant familial hypercholesterolemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PCTP	chr17	55750979	55842830	+	ENSG00000141179.13	protein_coding	PC-TP|STARD2	17q22	phosphatidylcholine transfer protein	Ubiquitous expression in liver (RPKM 9.3), placenta (RPKM 5.2) and 24 other tissues
PCYOX1	chr2	70257386	70281191	+	ENSG00000116005.11	protein_coding	PCL1	2p13.3	prenylcysteine oxidase 1	Prenylcysteine is released during the degradation of prenylated proteins. PCYOX1 catalyzes the degradation of prenylcysteine to yield free cysteines and a hydrophobic isoprenoid product (Tschantz et al., 1999 [PubMed 10585463]).[supplied by OMIM, Mar 2008]
PCYOX1L	chr5	149358007	149369653	+	ENSG00000145882.10	protein_coding	-	5q32	prenylcysteine oxidase 1 like	-
PCYT1A	chr3	196214222	196287957	-	ENSG00000161217.11	protein_coding	CCTA|CCTalpha|CT|CTA|CTPCT|PCYT1|SMDCRD	3q29	phosphate cytidylyltransferase 1A, choline	This gene belongs to the cytidylyltransferase family and is involved in the regulation of phosphatidylcholine biosynthesis. Mutations in this gene are associated with spondylometaphyseal dysplasia with cone-rod dystrophy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
PCYT2	chr17	81900965	81911464	-	ENSG00000185813.10	protein_coding	ET|SPG82	17q25.3	phosphate cytidylyltransferase 2, ethanolamine	This gene encodes an enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PDAP1	chr7	99392048	99408829	-	ENSG00000106244.12	protein_coding	HASPP28|PAP|PAP1	7q22.1	PDGFA associated protein 1	The protein encoded by this gene is a phosphoprotein that may upregulate the PDGFA-stimulated growth of fibroblasts and also downregulate the mitogenicity of PDGFB. The encoded protein in rodents has been shown to bind PDGFA with a low affinity. [provided by RefSeq, Dec 2010]
PDCD1	chr2	241849881	241858908	-	ENSG00000188389.10	protein_coding	CD279|PD-1|PD1|SLEB2|hPD-1|hPD-l|hSLE1	2q37.3	programmed cell death 1	Programmed cell death protein 1 (PDCD1) is an immune-inhibitory receptor expressed in activated T cells; it is involved in the regulation of T-cell functions, including those of effector CD8+ T cells. In addition, this protein can also promote the differentiation of CD4+ T cells into T regulatory cells. PDCD1 is expressed in many types of tumors including melanomas, and has demonstrated to play a role in anti-tumor immunity. Moreover, this protein has been shown to be involved in safeguarding against autoimmunity, however, it can also contribute to the inhibition of effective anti-tumor and anti-microbial immunity. [provided by RefSeq, Aug 2020]
PDCD10	chr3	167683298	167734939	-	ENSG00000114209.14	protein_coding	CCM3|TFAR15	3q26.1	programmed cell death 10	This gene encodes an evolutionarily conserved protein associated with cell apoptosis. The protein interacts with the serine/threonine protein kinase MST4 to modulate the extracellular signal-regulated kinase (ERK) pathway. It also interacts with and is phosphoryated by serine/threonine kinase 25, and is thought to function in a signaling pathway essential for vascular developent. Mutations in this gene are one cause of cerebral cavernous malformations, which are vascular malformations that cause seizures and cerebral hemorrhages. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PDCD11	chr10	103396648	103446292	+	ENSG00000148843.13	protein_coding	ALG-4|ALG4|NFBP|RRP5	10q24.33	programmed cell death 11	PDCD11 is a NF-kappa-B (NFKB1; 164011)-binding protein that colocalizes with U3 RNA (MIM 180710) in the nucleolus and is required for rRNA maturation and generation of 18S rRNA (Sweet et al., 2003 [PubMed 14624448]; Sweet et al., 2008 [PubMed 17654514]).[supplied by OMIM, Oct 2008]
PDCD1LG2	chr9	5510570	5571254	+	ENSG00000197646.7	protein_coding	B7DC|Btdc|CD273|PD-L2|PDCD1L2|PDL2|bA574F11.2	9p24.1	programmed cell death 1 ligand 2	Broad expression in spleen (RPKM 7.3), lymph node (RPKM 5.3) and 21 other tissues
PDCD2	chr6	170575295	170584692	-	ENSG00000071994.10	protein_coding	RP8|ZMYND7	6q27	programmed cell death 2	This gene encodes a nuclear protein expressed in a variety of tissues. Expression of this gene has been shown to be repressed by B-cell CLL/lymphoma 6 (BCL6), a transcriptional repressor required for lymph node germinal center development, suggesting that BCL6 regulates apoptosis by its effects on this protein. Alternative splicing results in multiple transcript variants and pseudogenes have been identified on chromosomes 9 and 12. [provided by RefSeq, Dec 2010]
PDCD2L	chr19	34404384	34426168	+	ENSG00000126249.7	protein_coding	-	19q13.11	programmed cell death 2 like	-
PDCD4	chr10	110871795	110900006	+	ENSG00000150593.17	protein_coding	H731	10q25.2	programmed cell death 4	This gene is a tumor suppressor and encodes a protein that binds to the eukaryotic translation initiation factor 4A1 and inhibits its function by preventing RNA binding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
PDCD5	chr19	32581068	32587452	+	ENSG00000105185.11	protein_coding	TFAR19	19q13.11	programmed cell death 5	This gene encodes a protein that is upregulated during apoptosis where it translocates rapidly from the cytoplasm to the nucleus. The encoded protein may be an important regulator of K(lysine) acetyltransferase 5 (a protein involved in transcription, DNA damage response and cell cycle control) by inhibiting its proteasome-dependent degradation. Pseudogenes have been identified on chromosomes 5 and 12 [provided by RefSeq, Dec 2010]
PDCD6	chr5	271621	353856	+	ENSG00000249915.7	protein_coding	ALG-2|ALG2|PEF1B	5p15.33	programmed cell death 6	This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. Calcium binding is important for homodimerization and for conformational changes required for binding to other protein partners. This gene product participates in T cell receptor-, Fas-, and glucocorticoid-induced programmed cell death. In mice deficient for this gene product, however, apoptosis was not blocked suggesting this gene product is functionally redundant. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is also located on the short arm of chromosome 5. [provided by RefSeq, May 2012]
PDCD6IP	chr3	33798352	33869707	+	ENSG00000170248.13	protein_coding	AIP1|ALIX|DRIP4|HP95	3p22.3	programmed cell death 6 interacting protein	This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]
PDCD7	chr15	65117379	65133836	-	ENSG00000090470.14	protein_coding	59K|ES18|HES18	15q22.31	programmed cell death 7	This gene encodes a 59 kDa protein that is associated with the U11 small nuclear ribonucleoprotein (snRNP), which is a component of the minor U12-type spliceosome responsible for catalyzing pre-mRNA splicing of U12-type introns. [provided by RefSeq, Dec 2010]
PDCL	chr9	122798389	122828631	-	ENSG00000136940.13	protein_coding	PhLP	9q33.2	phosducin like	Phosducin-like protein is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin, a phosphoprotein expressed in retina and pineal gland. Both phosducin-like protein and phosphoducin have been shown to regulate G-protein signaling by binding to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008]
PDCL2	chr4	55556525	55592212	-	ENSG00000163440.11	protein_coding	GCPHLP	4q12	phosducin like 2	This gene encodes a member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been shown to bind to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008]
PDCL3	chr2	100562690	100576735	+	ENSG00000115539.13	protein_coding	HTPHLP|PHLP2A|PHLP3|VIAF|VIAF1	2q11.2	phosducin like 3	This gene encodes a member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been shown to bind to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008]
PDCL3P4	chr3	101712472	101713191	+	ENSG00000244119.1	processed_pseudogene	-	3q12.3	PDCL3 pseudogene 4	-
PDE10A	chr6	165327287	165986603	-	ENSG00000112541.13	protein_coding	ADSD2|HSPDE10A|IOLOD|LINC00473|PDE10A19	6q27	phosphodiesterase 10A	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase family. It plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This protein can hydrolyze both cAMP and cGMP to the corresponding nucleoside 5 monophosphate, but has higher affinity for cAMP, and is more efficient with cAMP as substrate. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2011]
PDE11A	chr2	177623252	178108339	-	ENSG00000128655.16	protein_coding	PPNAD2	2q31.2	phosphodiesterase 11A	The 3,5-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3,5-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PDE12	chr3	57556276	57566844	+	ENSG00000174840.8	protein_coding	2'-PDE|2-PDE	3p14.3	phosphodiesterase 12	Ubiquitous expression in adrenal (RPKM 3.9), thyroid (RPKM 3.9) and 25 other tissues
PDE1A	chr2	182140036	182523192	-	ENSG00000115252.18	protein_coding	CAM-PDE 1A|CAM-PDE-1A|HCAM-1|HCAM1|HSPDE1A	2q32.1	phosphodiesterase 1A	Cyclic nucleotide phosphodiesterases (PDEs) play a role in signal transduction by regulating intracellular cyclic nucleotide concentrations through hydrolysis of cAMP and/or cGMP to their respective nucleoside 5-prime monophosphates. Members of the PDE1 family, such as PDE1A, are Ca(2+)/calmodulin (see CALM1; MIM 114180)-dependent PDEs (CaM-PDEs) that are activated by calmodulin in the presence of Ca(2+) (Michibata et al., 2001 [PubMed 11342109]; Fidock et al., 2002 [PubMed 11747989]).[supplied by OMIM, Oct 2009]
PDE1B	chr12	54549350	54579239	+	ENSG00000123360.11	protein_coding	HEL-S-79p|PDE1B1|PDES1B	12q13.2	phosphodiesterase 1B	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE1 subfamily. Members of the PDE1 family are calmodulin-dependent PDEs that are stimulated by a calcium-calmodulin complex. This PDE has dual-specificity for the second messengers, cAMP and cGMP, with a preference for cGMP as a substrate. cAMP and cGMP function as key regulators of many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]
PDE1C	chr7	31751179	32299329	-	ENSG00000154678.16	protein_coding	DFNA74|Hcam3|cam-PDE 1C|hCam-3	7p14.3	phosphodiesterase 1C	This gene encodes an enzyme that belongs to the 35-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016]
PDE2A	chr11	72576141	72674591	-	ENSG00000186642.15	protein_coding	CGS-PDE|IDDPADS|PDE2A1|PED2A4|cGSPDE	11q13.4	phosphodiesterase 2A	Broad expression in spleen (RPKM 45.0), brain (RPKM 27.8) and 14 other tissues
PDE3A	chr12	20369245	20684381	+	ENSG00000172572.6	protein_coding	CGI-PDE|CGI-PDE A|CGI-PDE-A|HTNB	12p12.2	phosphodiesterase 3A	This gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase (cGI-PDE) family. cGI-PDE enzymes hydrolyze both cAMP and cGMP, and play critical roles in many cellular processes by regulating the amplitude and duration of intracellular cyclic nucleotide signals. The encoded protein mediates platelet aggregation and also plays important roles in cardiovascular function by regulating vascular smooth muscle contraction and relaxation. Inhibitors of the encoded protein may be effective in treating congestive heart failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
PDE3B	chr11	14643723	14872044	+	ENSG00000152270.8	protein_coding	HcGIP1|cGIPDE1	11p15.2	phosphodiesterase 3B	Biased expression in fat (RPKM 53.0), lymph node (RPKM 8.6) and 12 other tissues
PDE4A	chr19	10416773	10469631	+	ENSG00000065989.15	protein_coding	DPDE2|PDE4|PDE46	19p13.2	phosphodiesterase 4A	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]
PDE4B	chr1	65792514	66374579	+	ENSG00000184588.17	protein_coding	DPDE4|PDEIVB	1p31.3	phosphodiesterase 4B	This gene is a member of the type IV, cyclic AMP (cAMP)-specific, cyclic nucleotide phosphodiesterase (PDE) family. The encoded protein regulates the cellular concentrations of cyclic nucleotides and thereby play a role in signal transduction. Altered activity of this protein has been associated with schizophrenia and bipolar affective disorder. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
PDE4C	chr19	18207961	18255419	-	ENSG00000105650.21	protein_coding	DPDE1|PDE21	19p13.11	phosphodiesterase 4C	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE4 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]
PDE4D	chr5	58969038	60522120	-	ENSG00000113448.18	protein_coding	ACRDYS2|DPDE3|HSPDE4D|PDE43|PDE4DN2|STRK1	5q11.2-q12.1	phosphodiesterase 4D	This gene encodes one of four mammalian counterparts to the fruit fly dunce gene. The encoded protein has 3,5-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transduction molecule in multiple cell types. This gene uses different promoters to generate multiple alternatively spliced transcript variants that encode functional proteins.[provided by RefSeq, Sep 2009]
PDE4DIP	chr1	148808181	149048286	+	ENSG00000178104.19	protein_coding	CMYA2|MMGL	1q21.2	phosphodiesterase 4D interacting protein	The protein encoded by this gene serves to anchor phosphodiesterase 4D to the Golgi/centrosome region of the cell. Defects in this gene may be a cause of myeloproliferative disorder (MBD) associated with eosinophilia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]
PDE4DIPP4	chr1	 120985692	121052167	-	ENSG00000275585	pseudogene	CH17-118O6.3	1p11.2	PDE4DIP pseudogene 4	-
PDE5A	chr4	119494395	119628991	-	ENSG00000138735.15	protein_coding	CGB-PDE|CN5A|PDE5	4q26	phosphodiesterase 5A	This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5-GMP. It is involved in the regulation of intracellular concentrations of cyclic nucleotides and is important for smooth muscle relaxation in the cardiovascular system. Alternative splicing of this gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PDE6A	chr5	149857955	149944793	-	ENSG00000132915.10	protein_coding	CGPR-A|PDEA|RP43	5q32	phosphodiesterase 6A	This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]
PDE6B	chr4	625584	670782	+	ENSG00000133256.12	protein_coding	CSNB3|CSNBAD2|GMP-PDEbeta|PDEB|RP40|rd1	4p16.3	phosphodiesterase 6B	Photon absorption triggers a signaling cascade in rod photoreceptors that activates cGMP phosphodiesterase (PDE), resulting in the rapid hydrolysis of cGMP, closure of cGMP-gated cation channels, and hyperpolarization of the cell. PDE is a peripheral membrane heterotrimeric enzyme made up of alpha, beta, and gamma subunits. This gene encodes the beta subunit. Mutations in this gene result in retinitis pigmentosa and autosomal dominant congenital stationary night blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
PDE6C	chr10	93612588	93666010	+	ENSG00000095464.9	protein_coding	ACHM5|COD4|PDEA2	10q23.33	phosphodiesterase 6C	This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]
PDE6D	chr2	231732425	231786272	-	ENSG00000156973.13	protein_coding	JBTS22|PDED	2q37.1	phosphodiesterase 6D	This gene encodes the delta subunit of rod-specific photoreceptor phosphodiesterase (PDE), a key enzyme in the phototransduction cascade. A similar protein in cow functions in solubilizing membrane-bound PDE. In addition to its role in the PDE complex, the encoded protein is thought to bind to prenyl groups of proteins to target them to subcellular organelles called cilia. Mutations in this gene are associated with Joubert syndrome-22. Alternative splicing results in multiple splice variants. [provided by RefSeq, Mar 2014]
PDE6G	chr17	81650459	81663112	-	ENSG00000185527.11	protein_coding	PDEG|RP57	17q25.3	phosphodiesterase 6G	This gene encodes the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]
PDE6H	chr12	14973022	14981865	+	ENSG00000139053.2	protein_coding	ACHM6|RCD3	12p12.3	phosphodiesterase 6H	This gene encodes the inhibitory (or gamma) subunit of the cone-specific cGMP phosphodiesterase, which is a tetramer composed of two catalytic chains (alpha and beta), and two inhibitory chains (gamma). It is specifically expressed in the retina, and is involved in the transmission and amplification of the visual signal. Mutations in this gene are associated with retinal cone dystrophy type 3A (RCD3A). [provided by RefSeq, Mar 2010]
PDE7A	chr8	65717510	65842322	-	ENSG00000205268.10	protein_coding	HCP1|PDE7	8q13.1	phosphodiesterase 7A	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE7 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]
PDE7B	chr6	135851696	136195574	+	ENSG00000171408.13	protein_coding	bA472E5.1	6q23.3	phosphodiesterase 7B	The 3,5-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3,5-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a cAMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family.[provided by RefSeq, Apr 2009]
PDE8A	chr15	84980440	85139145	+	ENSG00000073417.14	protein_coding	HsT19550	15q25.3	phosphodiesterase 8A	The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]
PDE8B	chr5	77210449	77429807	+	ENSG00000113231.13	protein_coding	ADSD|PPNAD3	5q13.3	phosphodiesterase 8B	The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]
PDF	chr16	69328621	69330595	-	ENSG00000258429.1	protein_coding	-	16q22.1	peptide deformylase, mitochondrial	Ubiquitous expression in kidney (RPKM 13.2), testis (RPKM 10.1) and 25 other tissues
PDGFA	chr7	497258	520296	-	ENSG00000197461.13	protein_coding	PDGF-A|PDGF1	7p22.3	platelet derived growth factor subunit A	This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit A, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit B. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PDGFA-DT	chr7	 520391	525232	+	ENSG00000223855	ncRNA	HRAT92	7p22.3	PDGFA divergent transcript	-
PDGFB	chr22	39223359	39244751	-	ENSG00000100311.16	protein_coding	IBGC5|PDGF-2|PDGF2|SIS|SSV|c-sis	22q13.1	platelet derived growth factor subunit B	This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit B, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit A. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Mutations in this gene are associated with meningioma. Reciprocal translocations between chromosomes 22 and 17, at sites where this gene and that for collagen type 1, alpha 1 are located, are associated with dermatofibrosarcoma protuberans, a rare skin tumor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PDGFC	chr4	156760454	156971394	-	ENSG00000145431.10	protein_coding	FALLOTEIN|SCDGF	4q32.1	platelet derived growth factor C	The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines. This gene product appears to form only homodimers. It differs from the platelet-derived growth factor alpha and beta polypeptides in having an unusual N-terminal domain, the CUB domain. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]
PDGFD	chr11	103907186	104164379	-	ENSG00000170962.12	protein_coding	IEGF|MSTP036|SCDGF-B|SCDGFB	11q22.3	platelet derived growth factor D	The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines, seven of which are found in this factor. This gene product only forms homodimers and, therefore, does not dimerize with the other three family members. It differs from alpha and beta members of this family in having an unusual N-terminal domain, the CUB domain. Two splice variants have been identified for this gene. [provided by RefSeq, Jul 2008]
PDGFRB	chr5	150113837	150155872	-	ENSG00000113721.13	protein_coding	CD140B|IBGC4|IMF1|JTK12|KOGS|PDGFR|PDGFR-1|PDGFR1|PENTT	5q32	platelet derived growth factor receptor beta	The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor monomer determines whether the functional receptor is a homodimer (PDGFB or PDGFD) or a heterodimer (PDGFA and PDGFB). This gene is essential for normal development of the cardiovascular system and aids in rearrangement of the actin cytoskeleton. This gene is flanked on chromosome 5 by the genes for granulocyte-macrophage colony-stimulating factor and macrophage-colony stimulating factor receptor; all three genes may be implicated in the 5-q syndrome. A translocation between chromosomes 5 and 12, that fuses this gene to that of the ETV6 gene, results in chronic myeloproliferative disorder with eosinophilia. [provided by RefSeq, Aug 2017]
PDGFRL	chr8	17576433	17644071	+	ENSG00000104213.12	protein_coding	PDGRL|PRLTS	8p22	platelet derived growth factor receptor like	This gene encodes a protein with significant sequence similarity to the ligand binding domain of platelet-derived growth factor receptor beta. Mutations in this gene, or deletion of a chromosomal segment containing this gene, are associated with sporadic hepatocellular carcinomas, colorectal cancers, and non-small cell lung cancers. This suggests this gene product may function as a tumor suppressor. [provided by RefSeq, Jul 2008]
PDHB	chr3	58427630	58433857	-	ENSG00000168291.12	protein_coding	PDHBD|PDHE1-B|PDHE1B|PHE1B	3p14.3	pyruvate dehydrogenase E1 subunit beta	The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012]
PDHX	chr11	34915829	35020591	+	ENSG00000110435.11	protein_coding	DLDBP|E3BP|OPDX|PDHXD|PDX1|proX	11p13	pyruvate dehydrogenase complex component X	The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
PDIA2	chr16	283152	287215	+	ENSG00000185615.15	protein_coding	PDA2|PDI|PDIP|PDIR	16p13.3	protein disulfide isomerase family A member 2	This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, two catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. The protein plays a role in the folding of nascent proteins in the endoplasmic reticulum by forming disulfide bonds through its thiol isomerase, oxidase, and reductase activity. The encoded protein also possesses estradiol-binding activity and can modulate intracellular estradiol levels. [provided by RefSeq, Sep 2017]
PDIA3	chr15	43746392	43773279	+	ENSG00000167004.12	protein_coding	ER60|ERp57|ERp60|ERp61|GRP57|GRP58|HEL-S-269|HEL-S-93n|HsT17083|P58|PI-PLC	15q15.3	protein disulfide isomerase family A member 3	This gene encodes a protein of the endoplasmic reticulum that interacts with lectin chaperones calreticulin and calnexin to modulate folding of newly synthesized glycoproteins. The protein was once thought to be a phospholipase; however, it has been demonstrated that the protein actually has protein disulfide isomerase activity. It is thought that complexes of lectins and this protein mediate protein folding by promoting formation of disulfide bonds in their glycoprotein substrates. This protein also functions as a molecular chaperone that prevents the formation of protein aggregates. [provided by RefSeq, Dec 2016]
PDIA3P1	chr1	147178113	147179622	+	ENSG00000180867.10	processed_pseudogene	ERp60|GRP58P|PDIA3P	1q21.1	protein disulfide isomerase family A member 3 pseudogene 1	-
PDIA3P2	chr15	43649123	43649280	+	ENSG00000224677.1	unprocessed_pseudogene	-	15q15.3	protein disulfide isomerase family A member 3 pseudogene 2	-
PDIA4	chr7	149003062	149028641	-	ENSG00000155660.10	protein_coding	ERP70|ERP72|ERp-72	7q36.1	protein disulfide isomerase family A member 4	This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, three catalytically active thioredoxin (TRX) domains, two TRX-like domains and a C-terminal ER-retention sequence. This protein, when bound to cyclophilin B, enhances the rate of immunoglobulin G intermolecular disulfide bonding and antibody assembly. [provided by RefSeq, Dec 2016]
PDIA5	chr3	123067062	123225227	+	ENSG00000065485.19	protein_coding	PDIR	3q21.1	protein disulfide isomerase family A member 5	This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, three catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. The N-terminal TRX-like domain is the primary binding site for the major ER chaperone calreticulin and possibly other proteins and substrates as well. Alternative splicing results in multiple protein- and non-protein-coding transcript variants. [provided by RefSeq, Dec 2016]
PDIA6	chr2	10783391	10837977	-	ENSG00000143870.12	protein_coding	ERP5|P5|TXNDC7	2p25.1	protein disulfide isomerase family A member 6	This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, two catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. This protein inhibits the aggregation of misfolded proteins and exhibits both isomerase and chaperone activity. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
PDIK1L	chr1	26111165	26125543	+	ENSG00000175087.9	protein_coding	CLIK1L|STK35L2	1p36.11	PDLIM1 interacting kinase 1 like	Ubiquitous expression in thyroid (RPKM 7.2), bone marrow (RPKM 4.5) and 25 other tissues
PDILT	chr16	20359170	20404737	-	ENSG00000169340.9	protein_coding	PDIA7	16p12.3	protein disulfide isomerase like, testis expressed	This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has has an N-terminal ER-signal sequence, two thioredoxin (TRX) domains with non-classical Ser-Lys-Gln-Ser and Ser-Lys-Lys-Cys motifs, respectively, two TRX-like domains, and a C-terminal ER-retention sequence. The protein lacks oxidoreductase activity in vitro and probably functions as a chaperone. This genes expression appears to be limited to the testis. [provided by RefSeq, Dec 2016]
PDK1	chr2	172555373	172608669	+	ENSG00000152256.13	protein_coding	-	2q31.1	pyruvate dehydrogenase kinase 1	Note: PDK1 (Gene ID: 5163) and PDPK1 (Gene ID: 5170) share the PDK1 symbol/alias in common. PDK1 is a widely used alternative name for 3-phosphoinositide dependent protein kinase 1 (PDPK1). [01 Jun 2018]
PDK2	chr17	50094737	50112152	+	ENSG00000005882.11	protein_coding	PDHK2|PDKII	17q21.33	pyruvate dehydrogenase kinase 2	This gene encodes a member of the pyruvate dehydrogenase kinase family. The encoded protein phosphorylates pyruvate dehydrogenase, down-regulating the activity of the mitochondrial pyruvate dehydrogenase complex. Overexpression of this gene may play a role in both cancer and diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PDK4	chr7	95583499	95596491	-	ENSG00000004799.7	protein_coding	-	7q21.3	pyruvate dehydrogenase kinase 4	Broad expression in fat (RPKM 319.9), adrenal (RPKM 136.4) and 18 other tissues
PDLIM1	chr10	95237572	95291024	-	ENSG00000107438.8	protein_coding	CLIM1|CLP-36|CLP36|HEL-S-112|hCLIM1	10q23.33	PDZ and LIM domain 1	This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012]
PDLIM1P4	chr3	98782188	98783193	+	ENSG00000249274.1	processed_pseudogene	-	3q12.1	PDZ and LIM domain 1 pseudogene 4	-
PDLIM2	chr8	22578279	22598025	+	ENSG00000120913.23	protein_coding	MYSTIQUE|SLIM	8p21.3	PDZ and LIM domain 2	This gene encodes a member of the ALP subfamily of PDZ-LIM domain proteins. The encoded protein suppresses anchorage-dependent growth and promotes cell migration and adhesion through interactions with the actin cytoskeleton via the PDZ domain. The encoded protein is also a putative tumor suppressor protein, and decreased expression of this gene is associated with several malignancies including breast cancer and adult T-cell leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
PDLIM3	chr4	185500660	185535612	-	ENSG00000154553.13	protein_coding	ALP	4q35.1	PDZ and LIM domain 3	The protein encoded by this gene contains a PDZ domain and a LIM domain, indicating that it may be involved in cytoskeletal assembly. In support of this, the encoded protein has been shown to bind the spectrin-like repeats of alpha-actinin-2 and to colocalize with alpha-actinin-2 at the Z lines of skeletal muscle. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Aberrant alternative splicing of this gene may play a role in myotonic dystrophy. [provided by RefSeq, Apr 2012]
PDLIM4	chr5	132257671	132273454	+	ENSG00000131435.12	protein_coding	RIL	5q31.1	PDZ and LIM domain 4	This gene encodes a protein which may be involved in bone development. Mutations in this gene are associated with susceptibility to osteoporosis. [provided by RefSeq, Nov 2009]
PDLIM5	chr4	94451857	94668227	+	ENSG00000163110.14	protein_coding	ENH|ENH1|L9|LIM	4q22.3	PDZ and LIM domain 5	This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PDLIM7	chr5	177483394	177497606	-	ENSG00000196923.13	protein_coding	LMP1|LMP3	5q35.3	PDZ and LIM domain 7	The protein encoded by this gene is representative of a family of proteins composed of conserved PDZ and LIM domains. LIM domains are proposed to function in protein-protein recognition in a variety of contexts including gene transcription and development and in cytoskeletal interaction. The LIM domains of this protein bind to protein kinases, whereas the PDZ domain binds to actin filaments. The gene product is involved in the assembly of an actin filament-associated complex essential for transmission of ret/ptc2 mitogenic signaling. The biological function is likely to be that of an adapter, with the PDZ domain localizing the LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PDPK1	chr16	2537964	2603188	+	ENSG00000140992.18	protein_coding	PDK1|PDPK2|PDPK2P|PRO0461	16p13.3	3-phosphoinositide dependent protein kinase 1	Note: PDK1 (Gene ID: 5163) and PDPK1 (Gene ID: 5170) share the PDK1 symbol/alias in common. PDK1 is a widely used alternative name for 3-phosphoinositide dependent protein kinase 1 (PDPK1). [01 Jun 2018]
PDPN	chr1	13583465	13617957	+	ENSG00000162493.16	protein_coding	AGGRUS|D2-40|GP36|GP40|Gp38|HT1A-1|OTS8|PA2.26|T1A|T1A-2|T1A2|TI1A	1p36.21	podoplanin	This gene encodes a type-I integral membrane glycoprotein with diverse distribution in human tissues. The physiological function of this protein may be related to its mucin-type character. The homologous protein in other species has been described as a differentiation antigen and influenza-virus receptor. The specific function of this protein has not been determined but it has been proposed as a marker of lung injury. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PDPR	chr16	70113626	70162537	+	ENSG00000090857.13	protein_coding	PDP3	16q22.1	pyruvate dehydrogenase phosphatase regulatory subunit	Pyruvate dehydrogenase complex (PDC) catalyzes the oxidative decarboxylation of pyruvate and links glycolysis to the tricarboxylic acid cycle and fatty acid synthesis. The dephosphorylation and reactivation of PDC is catalyzed by pyruvate dehydrogenase phosphatase (PDP). The dimeric PDP has a catalytic subunit and a regulatory subunit. This gene encodes the FAD-containing regulatory subunit of PDP. The encoded protein acts to decrease the sensitivity of the PDP catalytic subunit to magnesium ions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]
PDRG1	chr20	31944342	31952092	-	ENSG00000088356.5	protein_coding	C20orf126|PDRG	20q11.21	p53 and DNA damage regulated 1	Broad expression in testis (RPKM 24.8), placenta (RPKM 9.3) and 25 other tissues
PDS5A	chr4	39822863	39977956	-	ENSG00000121892.14	protein_coding	PIG54|SCC-112|SCC112	4p14	PDS5 cohesin associated factor A	The protein encoded by this gene binds to the cohesin complex and associates with chromatin through most of the cell cycle. The encoded protein may play a role in regulating sister chromatid cohesion during mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
PDS5B	chr13	32586427	32778019	+	ENSG00000083642.18	protein_coding	APRIN|AS3|CG008	13q13.1	PDS5 cohesin associated factor B	This gene encodes a protein that interacts with the conserved protein complex termed cohesin. The cohesin complex holds together sister chromatids and facilitates accurate chromosome segregation during mitosis and meiosis. This protein is also a negative regulator of cell proliferation and may be a tumor-suppressor gene. [provided by RefSeq, Jul 2015]
PDSS1	chr10	26697659	26746798	+	ENSG00000148459.15	protein_coding	COQ1|COQ10D2|COQ1A|DPS|SPS|TPRT|TPT|TPT 1|hDPS1	10p12.1	decaprenyl diphosphate synthase subunit 1	The protein encoded by this gene is an enzyme that elongates the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. The protein may be peripherally associated with the inner mitochondrial membrane, though no transit peptide has been definitively identified to date. Defects in this gene are a cause of coenzyme Q10 deficiency. [provided by RefSeq, Jul 2008]
PDSS1P1	chr9	5084999	5086112	-	ENSG00000182347.10	processed_pseudogene	-	9p24.1	decaprenyl diphosphate synthase subunit 1 pseudogene 1	-
PDSS1P2	chr2	44166266	44166943	+	ENSG00000224637.1	unprocessed_pseudogene	-	2p21	decaprenyl diphosphate synthase subunit 1 pseudogene 2	-
PDSS2	chr6	107152557	107459564	-	ENSG00000164494.11	protein_coding	C6orf210|COQ10D3|COQ1B|DLP1|bA59I9.3|hDLP1	6q21	decaprenyl diphosphate synthase subunit 2	The protein encoded by this gene is an enzyme that synthesizes the prenyl side-chain of coenzyme Q, or ubiquinone, one of the key elements in the respiratory chain. The gene product catalyzes the formation of all trans-polyprenyl pyrophosphates from isopentyl diphosphate in the assembly of polyisoprenoid side chains, the first step in coenzyme Q biosynthesis. Defects in this gene are a cause of coenzyme Q10 deficiency.[provided by RefSeq, Oct 2009]
PDX1	chr13	27920020	27926231	+	ENSG00000139515.5	protein_coding	GSF|IDX-1|IPF1|IUF1|MODY4|PAGEN1|PDX-1|STF-1	13q12.2	pancreatic and duodenal homeobox 1	The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (IDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Aug 2017]
PDXDC1	chr16	14974591	15139339	+	ENSG00000179889.18	protein_coding	LP8165	16p13.11	pyridoxal dependent decarboxylase domain containing 1	Ubiquitous expression in testis (RPKM 42.5), duodenum (RPKM 33.1) and 25 other tissues
PDXDC2P	chr16	69976297	70065948	-	ENSG00000196696.12	processed_transcript	PDXDC2	16q22.1	pyridoxal dependent decarboxylase domain containing 2, pseudogene	-
PDXK	chr21	43719094	43762307	+	ENSG00000160209.18	protein_coding	C21orf124|C21orf97|HEL-S-1a|HMSN6C|PKH|PNK|PRED79	21q22.3	pyridoxal kinase	The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PDXP	chr22	37658727	37666934	+	ENSG00000241360.1	protein_coding	CIN|PLP|dJ37E16.5	22q13.1	pyridoxal phosphatase	Pyridoxal 5-prime-phosphate (PLP) is the active form of vitamin B6 that acts as a coenzyme in maintaining biochemical homeostasis. The preferred degradation route from PLP to 4-pyridoxic acid involves the dephosphorylation of PLP by PDXP (Jang et al., 2003 [PubMed 14522954]).[supplied by OMIM, Mar 2008]
PDZD3	chr11	119185457	119190223	+	ENSG00000172367.15	protein_coding	IKEPP|NHERF4|PDZK2	11q23.3	PDZ domain containing 3	Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation (Scott et al., 2002 [PubMed 11950846]).[supplied by OMIM, Mar 2008]
PDZD7	chr10	101007683	101031157	-	ENSG00000186862.17	protein_coding	DFNB57|PDZK7	10q24.31	PDZ domain containing 7	This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
PDZD8	chr10	117277274	117375467	-	ENSG00000165650.11	protein_coding	PDZK8	10q25.3-q26.11	PDZ domain containing 8	Broad expression in bone marrow (RPKM 51.5), testis (RPKM 17.7) and 24 other tissues
PDZK1	chr1	145670852	145708148	-	ENSG00000174827.13	protein_coding	CAP70|CLAMP|NHERF-3|NHERF3|PDZD1	1q21.1	PDZ domain containing 1	This gene encodes a PDZ domain-containing scaffolding protein. PDZ domain-containing molecules bind to and mediate the subcellular localization of target proteins. The encoded protein mediates the localization of cell surface proteins and plays a critical role in cholesterol metabolism by regulating the HDL receptor, scavenger receptor class B type 1. Single nucleotide polymorphisms in this gene may be associated with metabolic syndrome, and overexpression of this gene may play a role in drug resistance of multiple myeloma. Pseudogenes of this gene are located on the long arm of chromosome 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PDZK1IP1	chr1	47183593	47191044	-	ENSG00000162366.7	protein_coding	DD96|MAP17|SPAP	1p33	PDZK1 interacting protein 1	Biased expression in kidney (RPKM 568.2), gall bladder (RPKM 87.6) and 3 other tissues
PDZRN3	chr3	73382433	73624940	-	ENSG00000121440.14	protein_coding	LNX3|SEMACAP3|SEMCAP3	3p13	PDZ domain containing ring finger 3	This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PDZRN4	chr12	41188448	41574590	+	ENSG00000165966.14	protein_coding	LNX4|SAMCAP3L	12q12	PDZ domain containing ring finger 4	Broad expression in prostate (RPKM 5.3), urinary bladder (RPKM 3.3) and 15 other tissues
PEA15	chr1	160205337	160215376	+	ENSG00000162734.12	protein_coding	HMAT1|HUMMAT1H|MAT1|MAT1H|PEA-15|PED|PED-PEA15|PED/PEA15	1q23.2	proliferation and apoptosis adaptor protein 15	This gene encodes a death effector domain-containing protein that functions as a negative regulator of apoptosis. The encoded protein is an endogenous substrate for protein kinase C. This protein is also overexpressed in type 2 diabetes mellitus, where it may contribute to insulin resistance in glucose uptake. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PEAK1	chr15	77100656	77420144	-	ENSG00000173517.10	protein_coding	SGK269	15q24.3	pseudopodium enriched atypical kinase 1	This gene encodes a non-receptor tyrosine kinase that is a member of the new kinase family three (NFK3) family. In migrating cells, the encoded protein is associated with the actin cytoskeleton and focal adhesions and promotes developing focal adhesion elongation. This protein may play a role in the regulation of cell migration, proliferation and cancer metastasis. [provided by RefSeq, Mar 2014]
PEAK3	chr19	 2274631	2282175	-	ENSG00000188305	protein-coding	C19orf35	19p13.3	PEAK family member 3	Low expression observed in reference dataset
PEAR1	chr1	156893698	156916434	+	ENSG00000187800.13	protein_coding	JEDI|MEGF12	1q23.1	platelet endothelial aggregation receptor 1	PEAR1 is a platelet receptor that signals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471]).[supplied by OMIM, Mar 2008]
PEBP1P2	chr2	85341281	85341838	-	ENSG00000270532.1	processed_pseudogene	-	2p11.2	phosphatidylethanolamine binding protein 1 pseudogene 2	-
PEBP1P3	chr1	198679139	198680033	-	ENSG00000236278.2	processed_pseudogene	-	1q31.3	phosphatidylethanolamine binding protein 1 pseudogene 3	-
PEBP4	chr8	22713251	23000000	-	ENSG00000134020.7	protein_coding	CORK-1|CORK1|GWTM1933|HEL-S-300|PEBP-4|PRO4408|hPEBP4	8p21.3	phosphatidylethanolamine binding protein 4	The phosphatidylethanolamine (PE)-binding proteins, including PEBP4, are an evolutionarily conserved family of proteins with pivotal biologic functions, such as lipid binding and inhibition of serine proteases (Wang et al., 2004 [PubMed 15302887]).[supplied by OMIM, Dec 2008]
PECR	chr2	215996329	216082955	-	ENSG00000115425.13	protein_coding	DCRRP|HPDHASE|HSA250303|PVIARL|SDR29C1|TERP	2q35	peroxisomal trans-2-enoyl-CoA reductase	Broad expression in liver (RPKM 14.1), fat (RPKM 7.2) and 15 other tissues
PEDS1	chr20	 50118254	50153723	-	ENSG00000240849	protein-coding	CarF|KUA|TMEM189	20q13.13	plasmanylethanolamine desaturase 1	-
PEF1	chr1	31629862	31644896	-	ENSG00000162517.12	protein_coding	ABP32|PEF1A	1p35.2	penta-EF-hand domain containing 1	This gene encodes a calcium-binding protein belonging to the penta-EF-hand protein family. The encoded protein has been shown to form a heterodimer with the programmed cell death 6 gene product and may modulate its function in Ca(2+) signaling. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 1.[provided by RefSeq, May 2010]
PEG10	chr7	94656325	94669695	+	ENSG00000242265.5	protein_coding	EDR|HB-1|MEF3L|Mar2|Mart2|RGAG3|RTL2|SIRH1	7q21.3	paternally expressed 10	This is a paternally expressed imprinted gene that is thought to have been derived from the Ty3/Gypsy family of retrotransposons. It contains two overlapping open reading frames, RF1 and RF2, and expresses two proteins: a shorter, gag-like protein (with a CCHC-type zinc finger domain) from RF1; and a longer, gag/pol-like fusion protein (with an additional aspartic protease motif) from RF1/RF2 by -1 translational frameshifting (-1 FS). While -1 FS has been observed in RNA viruses and transposons in both prokaryotes and eukaryotes, this gene represents the first example of -1 FS in a eukaryotic cellular gene. This gene is highly conserved across mammalian species and retains the heptanucleotide (GGGAAAC) and pseudoknot elements required for -1 FS. It is expressed in adult and embryonic tissues (most notably in placenta) and reported to have a role in cell proliferation, differentiation and apoptosis. Overexpression of this gene has been associated with several malignancies, such as hepatocellular carcinoma and B-cell lymphocytic leukemia. Knockout mice lacking this gene showed early embryonic lethality with placental defects, indicating the importance of this gene in embryonic development. Additional isoforms resulting from alternatively spliced transcript variants, and use of upstream non-AUG (CUG) start codon have been reported for this gene. [provided by RefSeq, Oct 2014]
PEG3	chr19	56810083	56840728	-	ENSG00000198300.12	protein_coding	PW1|ZKSCAN22|ZNF904|ZSCAN24	19q13.43	paternally expressed 3	In human, ZIM2 and PEG3 are treated as two distinct genes though they share multiple 5 exons and a common promoter and both genes are paternally expressed (PMID:15203203). Alternative splicing events connect their shared 5 exons either with the remaining 4 exons unique to ZIM2, or with the remaining 2 exons unique to PEG3. In contrast, in other mammals ZIM2 does not undergo imprinting and, in mouse, cow, and likely other mammals as well, the ZIM2 and PEG3 genes do not share exons. Human PEG3 protein belongs to the Kruppel C2H2-type zinc finger protein family. PEG3 may play a role in cell proliferation and p53-mediated apoptosis. PEG3 has also shown tumor suppressor activity and tumorigenesis in glioma and ovarian cells. Alternative splicing of this PEG3 gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2009]
PELATON	chr20	 50267478	50279788	+	ENSG00000224397	ncRNA	GCRL1|LINC01272|SMIM25	20q13.13	plaque enriched lncRNA in atherosclerotic and inflammatory bowel macrophage regulation	-
PELI1	chr2	64092652	64144454	-	ENSG00000197329.11	protein_coding	-	2p14	pellino E3 ubiquitin protein ligase 1	-
PELI2	chr14	56117814	56301526	+	ENSG00000139946.9	protein_coding	-	14q22.3	pellino E3 ubiquitin protein ligase family member 2	-
PELI3	chr11	66466327	66477337	+	ENSG00000174516.14	protein_coding	-	11q13.2	pellino E3 ubiquitin protein ligase family member 3	Ubiquitous expression in brain (RPKM 6.1), ovary (RPKM 4.8) and 24 other tissues
PELO	chr5	52787940	52804046	+	ENSG00000152684.10	protein_coding	CGI-17|PRO1770	5q11.2	pelota mRNA surveillance and ribosome rescue factor	This gene encodes a protein which contains a conserved nuclear localization signal. The encoded protein may have a role in spermatogenesis, cell cycle control, and in meiotic cell division. [provided by RefSeq, Jul 2008]
PELP1	chr17	4669774	4704337	-	ENSG00000141456.14	protein_coding	MNAR|P160	17p13.2	proline, glutamate and leucine rich protein 1	This gene encodes a transcription factor which coactivates transcription of estrogen receptor responsive genes and corepresses genes activated by other hormone receptors or sequence-specific transcription factors. Expression of this gene is regulated by both members of the estrogen receptor family. This gene may be involved in the progression of several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PEMT	chr17	17505563	17591708	-	ENSG00000133027.17	protein_coding	PEAMT|PEMPT|PEMT2|PLMT|PNMT	17p11.2	phosphatidylethanolamine N-methyltransferase	Phosphatidylcholine (PC) is the most abundant mammalian phospholipid. This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. Another distinct synthetic pathway in nucleated cells converts intracellular choline to phosphatidylcholine by a three-step process. The protein isoforms encoded by this gene localize to the endoplasmic reticulum and mitochondria-associated membranes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]
PENK	chr8	56436674	56446734	-	ENSG00000181195.10	protein_coding	PE|PENK-A	8q12.1	proenkephalin	This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include the pentapeptide opioids Met-enkephalin and Leu-enkephalin, which are stored in synaptic vesicles, then released into the synapse where they bind to mu- and delta-opioid receptors to modulate the perception of pain. Other non-opioid cleavage products may function in distinct biological activities. [provided by RefSeq, Jul 2015]
PEPD	chr19	33386950	33521794	-	ENSG00000124299.13	protein_coding	PROLIDASE	19q13.11	peptidase D	This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
PER1	chr17	8140472	8156506	-	ENSG00000179094.15	protein_coding	PER|RIGUI|hPER	17p13.1	period circadian regulator 1	This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq, Jan 2014]
PER2	chr2	238244038	238290102	-	ENSG00000132326.11	protein_coding	FASPS|FASPS1	2q37.3	period circadian regulator 2	This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers and have been linked to sleep disorders. [provided by RefSeq, Jan 2014]
PER3	chr1	7784320	7845177	+	ENSG00000049246.14	protein_coding	FASPS3|GIG13	1p36.23	period circadian regulator 3	This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been linked to sleep disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]
PERM1	chr1	975204	982093	-	ENSG00000187642.9	protein_coding	C1orf170	1p36.33	PPARGC1 and ESRR induced regulator, muscle 1	Biased expression in heart (RPKM 9.8), skin (RPKM 3.0) and 2 other tissues
PES1	chr22	30576625	30607083	-	ENSG00000100029.17	protein_coding	NOP7|PES	22q12.2	pescadillo ribosomal biogenesis factor 1	This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011]
PET100	chr19	7629737	7631956	+	ENSG00000229833.9	protein_coding	C19orf79|MC4DN12	19p13.2	PET100 cytochrome c oxidase chaperone	Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial complex IV. This protein localizes to the inner mitochondrial membrane and is exposed to the intermembrane space. Mutations in this gene are associated with mitochondrial complex IV deficiency. This gene has a pseudogene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PEX1	chr7	92487020	92528531	-	ENSG00000127980.15	protein_coding	HMLR1|PBD1A|PBD1B|ZWS|ZWS1	7q21.2	peroxisomal biogenesis factor 1	This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
PEX10	chr1	2403964	2413797	-	ENSG00000157911.9	protein_coding	NALD|PBD6A|PBD6B|RNF69	1p36.32	peroxisomal biogenesis factor 10	This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PEX11A	chr15	89677764	89690783	-	ENSG00000166821.8	protein_coding	PEX11-ALPHA|PMP28|hsPEX11p	15q26.1	peroxisomal biogenesis factor 11 alpha	This gene is a member of the PEX11 family, which is composed of membrane elongation factors involved in regulation of peroxisome maintenance and proliferation. This gene product interacts with peroxisomal membrane protein 19 and may respond to outside stimuli to increase peroxisome abundance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
PEX11B	chr1	145911350	145918837	-	ENSG00000131779.10	protein_coding	PEX11-BETA|PEX14B	1q21.1	peroxisomal biogenesis factor 11 beta	The protein encoded by this gene facilitates peroxisomal proliferation and interacts with PEX19. The encoded protein is found in the peroxisomal membrane. Several transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012]
PEX11G	chr19	7476875	7497449	-	ENSG00000104883.7	protein_coding	-	19p13.2	peroxisomal biogenesis factor 11 gamma	Broad expression in testis (RPKM 3.6), kidney (RPKM 2.2) and 23 other tissues
PEX12	chr17	35574795	35578863	-	ENSG00000108733.9	protein_coding	PAF-3|PBD3A	17q12	peroxisomal biogenesis factor 12	This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
PEX13	chr2	61017225	61051990	+	ENSG00000162928.8	protein_coding	NALD|PBD11A|PBD11B|ZWS	2p15	peroxisomal biogenesis factor 13	This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]
PEX14	chr1	10472288	10630758	+	ENSG00000142655.12	protein_coding	NAPP2|PBD13A|Pex14p|dJ734G22.2	1p36.22	peroxisomal biogenesis factor 14	This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]
PEX16	chr11	45909669	45918812	-	ENSG00000121680.15	protein_coding	PBD8A|PBD8B	11p11.2	peroxisomal biogenesis factor 16	The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]
PEX19	chr1	160276812	160286348	-	ENSG00000162735.18	protein_coding	D1S2223E|HK33|PBD12A|PMP1|PMPI|PXF|PXMP1	1q23.2	peroxisomal biogenesis factor 19	This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
PEX2	chr8	76980258	77001044	-	ENSG00000164751.14	protein_coding	PAF1|PBD5A|PBD5B|PMP3|PMP35|PXMP3|RNF72|ZWS3	8q21.13	peroxisomal biogenesis factor 2	This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
PEX3	chr6	143450807	143490010	+	ENSG00000034693.14	protein_coding	PBD10A|PBD10B|TRG18	6q24.2	peroxisomal biogenesis factor 3	The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]
PEX5	chr12	7188685	7218574	+	ENSG00000139197.10	protein_coding	PBD2A|PBD2B|PTS1-BP|PTS1R|PXR1|RCDP5	12p13.31	peroxisomal biogenesis factor 5	The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
PEX6	chr6	42963870	42979220	-	ENSG00000124587.13	protein_coding	HMLR2|PAF-2|PAF2|PBD4A|PDB4B|PXAAA1	6p21.1	peroxisomal biogenesis factor 6	This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PEX7	chr6	136822564	136913937	+	ENSG00000112357.12	protein_coding	PBD9B|PTS2R|RCDP1|RD	6q23.3	peroxisomal biogenesis factor 7	This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]
PF4	chr4	73981077	73982124	-	ENSG00000163737.3	protein_coding	CXCL4|PF-4|SCYB4	4q13.3	platelet factor 4	This gene encodes a member of the CXC chemokine family. This chemokine is released from the alpha granules of activated platelets in the form of a homotetramer which has high affinity for heparin and is involved in platelet aggregation. This protein is chemotactic for numerous other cell type and also functions as an inhibitor of hematopoiesis, angiogenesis and T-cell function. The protein also exhibits antimicrobial activity against Plasmodium falciparum. [provided by RefSeq, Oct 2014]
PF4V1	chr4	73853189	73854155	+	ENSG00000109272.3	protein_coding	CXCL4L1|CXCL4V1|PF4-ALT|PF4A|SCYB4V1	4q13.3	platelet factor 4 variant 1	The protein encoded by this gene is a chemokine that is highly similar to platelet factor 4. The encoded protein displays a strong antiangiogenic function and is regulated by chemokine (C-X-C motif) receptor 3. This protein also impairs tumor growth and can protect against blood-retinal barrier breakdown in diabetes patients. [provided by RefSeq, Nov 2015]
PFAS	chr17	8247618	8270491	+	ENSG00000178921.13	protein_coding	FGAMS|FGAR-AT|FGARAT|GATD8|PURL	17p13.1	phosphoribosylformylglycinamidine synthase	Purines are necessary for many cellular processes, including DNA replication, transcription, and energy metabolism. Ten enzymatic steps are required to synthesize inosine monophosphate (IMP) in the de novo pathway of purine biosynthesis. The enzyme encoded by this gene catalyzes the fourth step of IMP biosynthesis. [provided by RefSeq, Jul 2008]
PFDN1	chr5	140245039	140303121	-	ENSG00000113068.9	protein_coding	PDF|PFD1	5q31.3	prefoldin subunit 1	This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008]
PFDN4	chr20	54207847	54228052	+	ENSG00000101132.9	protein_coding	C1|PFD4	20q13.2	prefoldin subunit 4	This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008]
PFDN5	chr12	53295291	53299450	+	ENSG00000123349.13	protein_coding	MM-1|MM1|PFD5	12q13.13	prefoldin subunit 5	This gene encodes a member of the prefoldin alpha subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. The encoded protein may also repress the transcriptional activity of the proto-oncogene c-Myc. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PFDN6	chr6	33289302	33298401	+	ENSG00000204220.11	protein_coding	H2-KE2|HKE2|KE-2|PFD6	6p21.32	prefoldin subunit 6	PFDN6 is a subunit of the heteromeric prefoldin complex that chaperones nascent actin (see MIM 102560) and alpha- and beta-tubulin (see MIM 602529 and MIM 191130, respectively) chains pending their transfer to the cytosolic chaperonin containing TCP1 (MIM 186980) (CCT) complex (Hansen et al., 1999 [PubMed 10209023]).[supplied by OMIM, Jul 2010]
PFKFB2	chr1	207034366	207081024	+	ENSG00000123836.14	protein_coding	PFK-2/FBPase-2	1q32.1	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	The protein encoded by this gene is involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate, and a fructose-2,6-biphosphatase activity that catalyzes the degradation of fructose-2,6-bisphosphate. This protein regulates fructose-2,6-bisphosphate levels in the heart, while a related enzyme encoded by a different gene regulates fructose-2,6-bisphosphate levels in the liver and muscle. This enzyme functions as a homodimer. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PFKFB3	chr10	6144934	6254644	+	ENSG00000170525.19	protein_coding	IPFK2|PFK2|iPFK-2	10p15.1	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	The protein encoded by this gene belongs to a family of bifunctional proteins that are involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate (F2,6BP), and a fructose-2,6-biphosphatase activity that catalyzes the degradation of F2,6BP. This protein is required for cell cycle progression and prevention of apoptosis. It functions as a regulator of cyclin-dependent kinase 1, linking glucose metabolism to cell proliferation and survival in tumor cells. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]
PFKFB4	chr3	48517684	48562015	-	ENSG00000114268.11	protein_coding	-	3p21.31	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	Broad expression in testis (RPKM 10.5), small intestine (RPKM 8.0) and 18 other tissues
PFKL	chr21	44300051	44327376	+	ENSG00000141959.16	protein_coding	ATP-PFK|PFK-B|PFK-L	21q22.3	phosphofructokinase, liver type	This gene encodes the liver (L) subunit of an enzyme that catalyzes the conversion of D-fructose 6-phosphate to D-fructose 1,6-bisphosphate, which is a key step in glucose metabolism (glycolysis). This enzyme is a tetramer that may be composed of different subunits encoded by distinct genes in different tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PFKM	chr12	48105139	48146404	+	ENSG00000152556.15	protein_coding	ATP-PFK|GSD7|PFK-1|PFK-A|PFK1|PFKA|PFKX|PPP1R122	12q13.11	phosphofructokinase, muscle	Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]
PFN1	chr17	4945652	4949061	-	ENSG00000108518.7	protein_coding	ALS18	17p13.2	profilin 1	This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 2012]
PFN1P10	chr1	21459756	21460082	-	ENSG00000176378.8	processed_pseudogene	-	1p36.12	profilin 1 pseudogene 10	-
PFN1P11	chr10	102838011	102845473	-	ENSG00000213061.2	processed_pseudogene	-	10q24.32	profilin 1 pseudogene 11	-
PFN1P2	chr1	120432204	120434052	-	ENSG00000270392.2	transcribed_processed_pseudogene	C1orf152|COAS3	1p11.2	profilin 1 pseudogene 2	-
PFN1P6	chr1	144442606	144443004	+	ENSG00000227212.3	processed_pseudogene	PFN1P7	1q21.1	profilin 1 pseudogene 6	-
PFN1P8	chr1	146957117	146957659	-	ENSG00000244371.2	processed_pseudogene	-	1q21.1	profilin 1 pseudogene 8	-
PFN2	chr3	149964904	150050788	-	ENSG00000070087.13	protein_coding	D3S1319E|PFL	3q25.1	profilin 2	The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. There are two alternatively spliced transcript variants encoding different isoforms described for this gene. [provided by RefSeq, Jul 2008]
PFN3	chr5	177400107	177400636	-	ENSG00000196570.2	protein_coding	profilin-3	5q35.3	profilin 3	The product of this gene belongs to the profilin family of proteins. This protein binds to actin and affects the structure of the cytoskeleton. It also may be involved in spermatogenesis. It is a single exon gene. [provided by RefSeq, Jul 2008]
PFN4	chr2	24115371	24123477	-	ENSG00000176732.6	protein_coding	-	2p23.3	profilin family member 4	-
PGA3	chr11	61203307	61213098	+	ENSG00000229859.9	protein_coding	-	11q12.2	pepsinogen A3	Restricted expression toward stomach (RPKM 21519.3)
PGA4	chr11	61222216	61231927	+	ENSG00000229183.8	protein_coding	-	11q12.2	pepsinogen A4	Restricted expression toward stomach (RPKM 23688.7)
PGA5	chr11	61241042	61251448	+	ENSG00000256713.7	protein_coding	Pg5	11q12.2	pepsinogen A5	This gene encodes a protein precursor of the digestive enzyme pepsin, a member of the peptidase A1 family of endopeptidases. The encoded precursor is secreted by gastric chief cells and undergoes autocatalytic cleavage in acidic conditions to form the active enzyme, which functions in the digestion of dietary proteins. This gene is found in a cluster of related genes on chromosome 11, each of which encodes one of multiple pepsinogens. Pepsinogen levels in serum may serve as a biomarker for atrophic gastritis and gastric cancer. [provided by RefSeq, Jul 2015]
PGAM1	chr10	97426160	97433441	+	ENSG00000171314.8	protein_coding	HEL-S-35|PGAM-B|PGAMA	10q24.1	phosphoglycerate mutase 1	The protein encoded by this gene is a mutase that catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
PGAM1P2	chr9	35943210	35943934	-	ENSG00000225639.1	processed_pseudogene	-	9p13.3	phosphoglycerate mutase 1 pseudogene 2	-
PGAM1P4	chr3	9348443	9349192	+	ENSG00000214041.4	processed_pseudogene	-	3p25.3	phosphoglycerate mutase 1 pseudogene 4	-
PGAM1P6	chr2	23872268	23873014	-	ENSG00000224464.2	processed_pseudogene	-	2p23.3	phosphoglycerate mutase 1 pseudogene 6	-
PGAM2	chr7	44062727	44065587	-	ENSG00000164708.5	protein_coding	GSD10|PGAM-M|PGAMM	7p13	phosphoglycerate mutase 2	Phosphoglycerate mutase (PGAM) catalyzes the reversible reaction of 3-phosphoglycerate (3-PGA) to 2-phosphoglycerate (2-PGA) in the glycolytic pathway. The PGAM is a dimeric enzyme containing, in different tissues, different proportions of a slow-migrating muscle (MM) isozyme, a fast-migrating brain (BB) isozyme, and a hybrid form (MB). This gene encodes muscle-specific PGAM subunit. Mutations in this gene cause muscle phosphoglycerate mutase eficiency, also known as glycogen storage disease X. [provided by RefSeq, Sep 2009]
PGAM5	chr12	132710819	132722734	+	ENSG00000247077.6	protein_coding	BXLBV68	12q24.33	PGAM family member 5, mitochondrial serine/threonine protein phosphatase	Ubiquitous expression in esophagus (RPKM 6.8), testis (RPKM 6.7) and 25 other tissues
PGAP1	chr2	196833004	196927796	-	ENSG00000197121.14	protein_coding	Bst1|ISPD3024|MRT42|NEDDSBA|SPG67	2q33.1	post-GPI attachment to proteins inositol deacylase 1	The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause an autosomal recessive form of cognitive impairment. [provided by RefSeq, Jul 2017]
PGAP2	chr11	3797724	3826371	+	ENSG00000148985.19	protein_coding	CWH43-N|FRAG1|HPMRS3|MRT17|MRT21	11p15.4	post-GPI attachment to proteins 2	The protein encoded by this gene plays a role in the maturation of glycosylphosphatidylinositol (GPI) anchors on GPI-anchored proteins. Mutations in this gene are associated with an autosomal recessive syndrome characterized by hyperphosphatasia and intellectual disability. [provided by RefSeq, Jul 2017]
PGAP3	chr17	39671122	39696797	-	ENSG00000161395.13	protein_coding	AGLA546|CAB2|PERLD1|PP1498|hCOS16	17q12	post-GPI attachment to proteins phospholipase 3	This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from the sn-2 position of GPI. The remodeling of the constituent fatty acids on GPI is thought to be important for the proper association between GPI-anchored proteins and lipid rafts. The tethering of proteins to plasma membranes via posttranslational GPI-anchoring is thought to play a role in protein sorting and trafficking. Mutations in this gene cause an autosomal recessive form of neurologic hyperphosphatasia with cognitive disability (HPMRS4). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
PGAP4	chr9	 101473170	101533686	-	ENSG00000165152	protein-coding	C9orf125|TMEM246	9q31.1	post-GPI attachment to proteins GalNAc transferase 4	Broad expression in brain (RPKM 25.2), heart (RPKM 14.2) and 20 other tissues
PGAP6	chr16	 370788	386979	-	ENSG00000129925	protein-coding	GPI-PLA2|M83|TMEM6|TMEM8|TMEM8A	16p13.3	post-glycosylphosphatidylinositol attachment to proteins 6	Ubiquitous expression in testis (RPKM 24.1), placenta (RPKM 22.5) and 25 other tissues
PGBD1	chr6	28281572	28302549	+	ENSG00000137338.5	protein_coding	HUCEP-4|SCAND4|dJ874C20.4	6p22.1	piggyBac transposable element derived 1	The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. This gene product is specifically expressed in the brain, however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2010]
PGBD2	chr1	248906196	248919946	+	ENSG00000185220.11	protein_coding	-	1q44	piggyBac transposable element derived 2	Ubiquitous expression in testis (RPKM 3.5), thyroid (RPKM 2.7) and 25 other tissues
PGBD4P8	chr1	60097415	60097976	+	ENSG00000229332.2	processed_pseudogene	-	1p32.1	piggyBac transposable element derived 4 pseudogene 8	-
PGBD5	chr1	230314482	230426371	-	ENSG00000177614.10	protein_coding	-	1q42.13	piggyBac transposable element derived 5	Biased expression in brain (RPKM 13.1), adrenal (RPKM 4.4) and 9 other tissues
PGC	chr6	41736711	41754109	-	ENSG00000096088.16	protein_coding	PEPC|PGII	6p21.1	progastricsin	This gene encodes an aspartic proteinase that belongs to the peptidase family A1. The encoded protein is a digestive enzyme that is produced in the stomach and constitutes a major component of the gastric mucosa. This protein is also secreted into the serum. This protein is synthesized as an inactive zymogen that includes a highly basic prosegment. This enzyme is converted into its active mature form at low pH by sequential cleavage of the prosegment that is carried out by the enzyme itself. Polymorphisms in this gene are associated with susceptibility to gastric cancers. Serum levels of this enzyme are used as a biomarker for certain gastric diseases including Helicobacter pylori related gastritis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Oct 2009]
PGD	chr1	10398592	10420144	+	ENSG00000142657.20	protein_coding	6PGD	1p36.22	phosphogluconate dehydrogenase	6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-phosphogluconate dehydrogenase and 6-phosphogluconolactonase suggesting a synergism of the two enzymopathies. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
PGF	chr14	74941834	74955784	-	ENSG00000119630.13	protein_coding	D12S1900|PGFL|PIGF|PLGF|PlGF-2|SHGC-10760	14q24.3	placental growth factor	This gene encodes a growth factor found in placenta which is homologous to vascular endothelial growth factor. Alternatively spliced transcripts encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]
PGGHG	chr11	289135	296107	+	ENSG00000142102.15	protein_coding	ATHL1	11p15.5	protein-glucosylgalactosylhydroxylysine glucosidase	Enables protein-glucosylgalactosylhydroxylysine glucosidase activity. Involved in carbohydrate metabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
PGGT1B	chr5	115204012	115262872	-	ENSG00000164219.9	protein_coding	BGGI|GGTI	5q22.3	protein geranylgeranyltransferase type I subunit beta	Protein geranylgeranyltransferase type I (GGTase-I) transfers a geranylgeranyl group to the cysteine residue of candidate proteins containing a C-terminal CAAX motif in which A is an aliphatic amino acid and X is leucine (summarized by Zhang et al., 1994 [PubMed 8106351]). The enzyme is composed of a 48-kD alpha subunit (FNTA; MIM 134635) and a 43-kD beta subunit, encoded by the PGGT1B gene. The FNTA gene encodes the alpha subunit for both GGTase-I and the related enzyme farnesyltransferase.[supplied by OMIM, Mar 2010]
PGK1P2	chr19	12559571	12561105	+	ENSG00000213290.4	processed_pseudogene	PGK2	19p13.2	phosphoglycerate kinase 1, pseudogene 2	-
PGLS	chr19	17511629	17521288	+	ENSG00000130313.6	protein_coding	6PGL|HEL-S-304	19p13.11	6-phosphogluconolactonase	Ubiquitous expression in spleen (RPKM 10.2), colon (RPKM 9.1) and 25 other tissues
PGLYRP4	chr1	153330120	153348840	-	ENSG00000163218.14	protein_coding	PGLYRPIbeta|PGRP-Ibeta|PGRPIB|SBBI67	1q21.3	peptidoglycan recognition protein 4	Summary: This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. These proteins are part of the innate immune system and recognize peptidoglycan, a ubiquitous component of bacterial cell walls. This antimicrobial protein binds to murein peptidoglycans of Gram-positive bacteria. [provided by RefSeq, Oct 2014]
PGM1	chr1	63593276	63660245	+	ENSG00000079739.15	protein_coding	CDG1T|GSD14	1p31.3	phosphoglucomutase 1	The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Mar 2010]
PGM2	chr4	37826633	37862937	+	ENSG00000169299.13	protein_coding	MSTP006	4p14	phosphoglucomutase 2	Ubiquitous expression in esophagus (RPKM 28.0), urinary bladder (RPKM 13.5) and 23 other tissues
PGM2L1	chr11	74330318	74398473	-	ENSG00000165434.7	protein_coding	BM32A|PMMLP	11q13.4	phosphoglucomutase 2 like 1	Biased expression in brain (RPKM 28.2), endometrium (RPKM 3.0) and 7 other tissues
PGM3	chr6	83161150	83193936	-	ENSG00000013375.15	protein_coding	AGM1|IMD23|PAGM|PGM 3	6q14.1	phosphoglucomutase 3	This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PGM5	chr9	68328308	68531061	+	ENSG00000154330.12	protein_coding	PGMRP	9q21.11	phosphoglucomutase 5	Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are phosphotransferases involved in interconversion of glucose-1-phosphate and glucose-6-phosphate. PGM activity is essential in formation of carbohydrates from glucose-6-phosphate and in formation of glucose-6-phosphate from galactose and glycogen (Edwards et al., 1995 [PubMed 8586438]).[supplied by OMIM, Mar 2008]
PGP	chr16	2211997	2214807	-	ENSG00000184207.8	protein_coding	AUM|G3PP|PGPase	16p13.3	phosphoglycolate phosphatase	Broad expression in testis (RPKM 12.7), brain (RPKM 7.6) and 25 other tissues
PGPEP1	chr19	18340587	18369950	+	ENSG00000130517.13	protein_coding	PAP-I|PGI|PGP|PGP-I|PGPI|Pcp	19p13.11	pyroglutamyl-peptidase I	The gene encodes a cysteine protease and member of the peptidase C15 family of proteins. The encoded protein cleaves amino terminal pyroglutamate residues from protein substrates including thyrotropin-releasing hormone and other neuropeptides. Expression of this gene may be downregulated in colorectal cancer, while activity of the encoded protein may be negatively correlated with cancer progression in colorectal cancer patients. Activity of the encoded protease may also be altered in other disease states including in liver cirrhosis, which is associated with reduced protease activity, and in necrozoospermia, which is associated with elevated protease activity. [provided by RefSeq, Jul 2016]
PGPEP1L	chr15	98968230	99007795	-	ENSG00000183571.10	protein_coding	-	15q26.3	pyroglutamyl-peptidase I like	-
PGR	chr11	101029624	101130524	-	ENSG00000082175.14	protein_coding	NR3C3|PR	11q22.1	progesterone receptor	This gene encodes a member of the steroid receptor superfamily. The encoded protein mediates the physiological effects of progesterone, which plays a central role in reproductive events associated with the establishment and maintenance of pregnancy. This gene uses two distinct promotors and translation start sites in the first exon to produce several transcript variants, both protein coding and non-protein coding. Two of the isoforms (A and B) are identical except for an additional 165 amino acids found in the N-terminus of isoform B and mediate their own response genes and physiologic effects with little overlap. [provided by RefSeq, Sep 2015]
PGRMC2	chr4	128269237	128288829	-	ENSG00000164040.16	protein_coding	DG6|PMBP	4q28.2	progesterone receptor membrane component 2	Ubiquitous expression in fat (RPKM 36.7), small intestine (RPKM 30.1) and 25 other tissues
PGS1	chr17	78378640	78425114	+	ENSG00000087157.18	protein_coding	-	17q25.3	phosphatidylglycerophosphate synthase 1	-
PHACTR1	chr6	12716805	13290484	+	ENSG00000112137.17	protein_coding	DEE70|EIEE70|RPEL|RPEL1|dJ257A7.2	6p24.1	phosphatase and actin regulator 1	The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
PHACTR2	chr6	143536845	143831185	+	ENSG00000112419.14	protein_coding	C6orf56	6q24.2	phosphatase and actin regulator 2	Broad expression in placenta (RPKM 29.1), adrenal (RPKM 11.9) and 22 other tissues
PHACTR3	chr20	59577509	59847711	+	ENSG00000087495.16	protein_coding	C20orf101|H17739|PPP1R123|SCAPIN1|SCAPININ	20q13.32-q13.33	phosphatase and actin regulator 3	This gene encodes a member of the phosphatase and actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, and binds to actin and the catalytic subunit of protein phosphatase-1, suggesting that it functions as a regulatory subunit of protein phosphatase-1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHACTR4	chr1	28369582	28500369	+	ENSG00000204138.12	protein_coding	PPP1R124	1p35.3	phosphatase and actin regulator 4	This gene encodes a member of the phosphatase and actin regulator (PHACTR) family. Other PHACTR family members have been shown to inhibit protein phosphatase 1 (PP1) activity, and the homolog of this gene in the mouse has been shown to interact with actin and PP1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHAF1	chr16	 67109941	67148544	+	ENSG00000125149	protein-coding	C16orf6|C16orf70|LIN10|lin-10	16q22.1	phagosome assembly factor 1	-
PHAX	chr5	126600268	126627252	+	ENSG00000164902.13	protein_coding	RNUXA	5q23.2	phosphorylated adaptor for RNA export	Ubiquitous expression in brain (RPKM 11.7), endometrium (RPKM 7.4) and 25 other tissues
PHB	chr17	49404049	49414905	-	ENSG00000167085.11	protein_coding	HEL-215|HEL-S-54e|PHB1	17q21.33	prohibitin	This gene is evolutionarily conserved, and its product is proposed to play a role in human cellular senescence and tumor suppression. Antiproliferative activity is reported to be localized to the 3 UTR, which is proposed to function as a trans-acting regulatory RNA. Several pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHBP12	chr1	50780340	50781150	+	ENSG00000230585.2	processed_pseudogene	-	1p32.3	prohibitin pseudogene 12	-
PHBP15	chr7	74741457	74742121	-	ENSG00000262648.1	processed_pseudogene	-	7q11.23	prohibitin pseudogene 15	-
PHBP18	chr12	48168847	48169659	-	ENSG00000257885.1	processed_pseudogene	-	12q13.11	prohibitin pseudogene 18	-
PHBP7	chr9	85898903	85899716	+	ENSG00000213711.3	processed_pseudogene	-	9q21.33	prohibitin pseudogene 7	-
PHBP9	chr10	100248271	100249095	+	ENSG00000230224.1	processed_pseudogene	-	10q24.31	prohibitin pseudogene 9	-
PHC1	chr12	8913896	8941467	+	ENSG00000111752.10	protein_coding	EDR1|HPH1|MCPH11|RAE28	12p13.31	polyhomeotic homolog 1	This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. [provided by RefSeq, Jul 2008]
PHC2	chr1	33323623	33431052	-	ENSG00000134686.18	protein_coding	EDR2|HPH2|PH2	1p35.1	polyhomeotic homolog 2	In Drosophila melanogaster, the Polycomb group (PcG) of genes are part of a cellular memory system that is responsible for the stable inheritance of gene activity. PcG proteins form a large multimeric, chromatin-associated protein complex. The protein encoded by this gene has homology to the Drosophila PcG protein polyhomeotic (Ph) and is known to heterodimerize with EDR1 and colocalize with BMI1 in interphase nuclei of human cells. The specific function in human cells has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHC3	chr3	170086732	170181749	-	ENSG00000173889.15	protein_coding	EDR3|HPH3	3q26.2	polyhomeotic homolog 3	Ubiquitous expression in bone marrow (RPKM 7.6), thyroid (RPKM 6.5) and 25 other tissues
PHETA1	chr12	 111360679	111369095	-	ENSG00000198324	protein-coding	FAM109A|IPIP27A|SES1	12q24.12	PH domain containing endocytic trafficking adaptor 1	This gene encodes a protein that localizes to the endosome and interacts with the enzyme, inositol polyphosphate 5-phosphatase OCRL-1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHETA2	chr22	 42074248	42079438	+	ENSG00000177096	protein-coding	FAM109B|IPIP27B|Ses2	22q13.2	PH domain containing endocytic trafficking adaptor 2	Ubiquitous expression in placenta (RPKM 8.4), urinary bladder (RPKM 5.1) and 24 other tissues
PHF1	chr6	33410399	33416453	+	ENSG00000112511.17	protein_coding	MTF2L2|PCL1|PHF2|TDRD19C|hPHF1	6p21.32	PHD finger protein 1	This gene encodes a Polycomb group protein. The protein is a component of a histone H3 lysine-27 (H3K27)-specific methyltransferase complex, and functions in transcriptional repression of homeotic genes. The protein is also recruited to double-strand breaks, and reduced protein levels results in X-ray sensitivity and increased homologous recombination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHF10	chr6	169703905	169725566	-	ENSG00000130024.14	protein_coding	BAF45A|SMARCG4|XAP135	6q27	PHD finger protein 10	This gene contains a predicted ORF that encodes a protein with two zinc finger domains. The function of the encoded protein is not known. Sequence analysis suggests that multiple alternatively spliced transcript variants are derived from this gene but the full-length nature of only two of them is known. These two splice variants encode different isoforms. A pseudogene for this gene is located on Xq28. [provided by RefSeq, Jul 2008]
PHF11	chr13	49495610	49528987	+	ENSG00000136147.17	protein_coding	APY|BCAP|IGEL|IGER|IGHER|NY-REN-34|NYREN34	13q14.2	PHD finger protein 11	This gene encodes a protein containing a PHD (plant homeodomain) type zinc finger. This gene has been identified in some studies as a candidate gene for asthma. Naturally-occurring readthrough transcription may occur from the upstream SETDB2 (SET domain bifurcated 2) gene to this locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHF12	chr17	28905250	28951771	-	ENSG00000109118.13	protein_coding	PF1	17q11.2	PHD finger protein 12	Ubiquitous expression in bone marrow (RPKM 8.9), spleen (RPKM 8.2) and 25 other tissues
PHF13	chr1	6613685	6624033	+	ENSG00000116273.5	protein_coding	PHF5|SPOC1	1p36.31	PHD finger protein 13	Broad expression in testis (RPKM 26.3), endometrium (RPKM 8.4) and 25 other tissues
PHF14	chr7	10973872	11169630	+	ENSG00000106443.15	protein_coding	-	7p21.3	PHD finger protein 14	Ubiquitous expression in brain (RPKM 4.6), endometrium (RPKM 2.7) and 25 other tissues
PHF19	chr9	120855652	120894896	-	ENSG00000119403.13	protein_coding	MTF2L1|PCL3|TDRD19B	9q33.2	PHD finger protein 19	Ubiquitous expression in lymph node (RPKM 8.7), ovary (RPKM 6.6) and 24 other tissues
PHF2	chr9	93576407	93679587	+	ENSG00000197724.10	protein_coding	CENP-35|GRC5|JHDM1E|KDM7C	9q22.31	PHD finger protein 2	This gene encodes a protein which contains a zinc finger-like PHD (plant homeodomain) finger, distinct from other classes of zinc finger motifs, and a hydrophobic and highly conserved domain. The PHD finger shows the typical Cys4-His-Cys3 arrangement. PHD finger genes are thought to belong to a diverse group of transcriptional regulators possibly affecting eukaryotic gene expression by influencing chromatin structure. [provided by RefSeq, Jul 2008]
PHF20	chr20	35771974	35950381	+	ENSG00000025293.16	protein_coding	C20orf104|GLEA2|HCA58|NZF|TDRD20A|TZP	20q11.22-q11.23	PHD finger protein 20	Ubiquitous expression in testis (RPKM 8.8), brain (RPKM 8.0) and 25 other tissues
PHF20L1	chr8	132775358	132848807	+	ENSG00000129292.20	protein_coding	CGI-72|TDRD20B|URLC1	8q24.22	PHD finger protein 20 like 1	Ubiquitous expression in thyroid (RPKM 8.3), testis (RPKM 4.7) and 25 other tissues
PHF21A	chr11	45929323	46121178	-	ENSG00000135365.15	protein_coding	BHC80|BM-006|IDDBCS|NEDMS	11p11.2	PHD finger protein 21A	The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulatory element known as repressor element-1 (RE1) or neural restrictive silencer (NRS) (Hakimi et al., 2002 [PubMed 12032298]).[supplied by OMIM, Nov 2010]
PHF21B	chr22	44881162	45009999	-	ENSG00000056487.15	protein_coding	BHC80L|PHF4	22q13.31	PHD finger protein 21B	Biased expression in testis (RPKM 1.4), brain (RPKM 1.4) and 8 other tissues
PHF23	chr17	7235028	7239722	-	ENSG00000040633.12	protein_coding	hJUNE-1b	17p13.1	PHD finger protein 23	Ubiquitous expression in esophagus (RPKM 12.0), testis (RPKM 11.9) and 25 other tissues
PHF3	chr6	63635820	63779336	+	ENSG00000118482.11	protein_coding	-	6q12	PHD finger protein 3	Ubiquitous expression in testis (RPKM 15.6), thyroid (RPKM 14.4) and 25 other tissues
PHF5A	chr22	41459717	41468725	-	ENSG00000100410.7	protein_coding	INI|Rds3|SAP14b|SF3B7|SF3b14b|bK223H9.2	22q13.2	PHD finger protein 5A	This gene encodes a subunit of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the introns branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. The protein encoded by this gene contains a PHD-finger-like domain that is flanked by highly basic N- and C-termini. This protein belongs to the PHD-finger superfamily and may act as a chromatin-associated protein. This gene has several pseudogenes on different chromosomes. [provided by RefSeq, Jul 2008]
PHF5CP	chr19	19588091	19588415	-	ENSG00000267178.3	processed_pseudogene	PHF5AP1	19p13.11	PHD finger protein 5C pseudogene	-
PHF7	chr3	52410657	52423641	+	ENSG00000010318.20	protein_coding	HSPC045|HSPC226|NYD-SP6	3p21.1	PHD finger protein 7	Spermatogenesis is a complex process regulated by extracellular and intracellular factors as well as cellular interactions among interstitial cells of the testis, Sertoli cells, and germ cells. This gene is expressed in the testis in Sertoli cells but not germ cells. The protein encoded by this gene contains plant homeodomain (PHD) finger domains, also known as leukemia associated protein (LAP) domains, believed to be involved in transcriptional regulation. The protein, which localizes to the nucleus of transfected cells, has been implicated in the transcriptional regulation of spermatogenesis. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
PHGDH	chr1	119659798	119744215	+	ENSG00000092621.11	protein_coding	3-PGDH|3PGDH|HEL-S-113|NLS|NLS1|PDG|PGAD|PGD|PGDH|PHGDHD|SERA	1p12	phosphoglycerate dehydrogenase	This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011]
PHGR1	chr15	40351033	40356434	+	ENSG00000233041.8	protein_coding	-	15q15.1	proline, histidine and glycine rich 1	-
PHIP	chr6	78935867	79078236	-	ENSG00000146247.13	protein_coding	BRWD2|CHUJANS|DCAF14|DIDOD|WDR11|ndrp	6q14.1	pleckstrin homology domain interacting protein	This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients. [provided by RefSeq, Oct 2016]
PHKA2	chrX	18892300	18984598	-	ENSG00000044446.11	protein_coding	GSD9A|PHK|PYK|PYKL|XLG|XLG2	Xp22.13	phosphorylase kinase regulatory subunit alpha 2	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]
PHKB	chr16	47461123	47701523	+	ENSG00000102893.15	protein_coding	-	16q12.1	phosphorylase kinase regulatory subunit beta	Ubiquitous expression in thyroid (RPKM 18.4), adrenal (RPKM 12.6) and 25 other tissues
PHKG1	chr7	56080283	56092996	-	ENSG00000164776.9	protein_coding	PHKG	7p11.2	phosphorylase kinase catalytic subunit gamma 1	This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHKG2	chr16	30748270	30761176	+	ENSG00000156873.15	protein_coding	GSD9C	16p11.2	phosphorylase kinase catalytic subunit gamma 2	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
PHLDA2	chr11	2928273	2929455	-	ENSG00000181649.5	protein_coding	BRW1C|BWR1C|HLDA2|IPL|TSSC3	11p15.4	pleckstrin homology like domain family A member 2	This gene is located in a cluster of imprinted genes on chromosome 11p15.5, which is considered to be an important tumor suppressor gene region. Alterations in this region may be associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene has been shown to be imprinted, with preferential expression from the maternal allele in placenta and liver. [provided by RefSeq, Oct 2010]
PHLDA3	chr1	201464383	201469237	-	ENSG00000174307.6	protein_coding	TIH1	1q32.1	pleckstrin homology like domain family A member 3	Broad expression in fat (RPKM 24.2), esophagus (RPKM 11.1) and 22 other tissues
PHLDB1	chr11	118606440	118658038	+	ENSG00000019144.18	protein_coding	LL5A	11q23.3	pleckstrin homology like domain family B member 1	Ubiquitous expression in fat (RPKM 23.2), brain (RPKM 15.4) and 23 other tissues
PHLDB3	chr19	43474954	43504935	-	ENSG00000176531.10	protein_coding	-	19q13.31	pleckstrin homology like domain family B member 3	-
PHLPP1	chr18	62715450	62980433	+	ENSG00000081913.13	protein_coding	PHLPP|PLEKHE1|PPM3A|SCOP	18q21.33	PH domain and leucine rich repeat protein phosphatase 1	This gene encodes a member of the serine/threonine phosphatase family. The encoded protein promotes apoptosis by dephosphorylating and inactivating the serine/threonine kinase Akt, and functions as a tumor suppressor in multiple types of cancer. Increased expression of this gene may also play a role in obesity and type 2 diabetes by interfering with Akt-mediated insulin signaling. [provided by RefSeq, Dec 2011]
PHLPP2	chr16	71637835	71724701	-	ENSG00000040199.18	protein_coding	PHLPPL|PPM3B	16q22.2	PH domain and leucine rich repeat protein phosphatase 2	Broad expression in small intestine (RPKM 11.5), colon (RPKM 5.9) and 22 other tissues
PHOSPHO1	chr17	49223362	49230766	-	ENSG00000173868.11	protein_coding	-	17q21.32	phosphoethanolamine/phosphocholine phosphatase 1	-
PHOSPHO2	chr2	169694454	169701708	+	ENSG00000144362.11	protein_coding	-	2q31.1	phosphatase, orphan 2	-
PHPT1	chr9	136848724	136851027	+	ENSG00000054148.17	protein_coding	CGI-202|HEL-S-132P|HSPC141|PHP|PHP14	9q34.3	phosphohistidine phosphatase 1	This gene encodes an enzyme that catalyzes the reversible dephosphorylation of histidine residues in proteins. It may be involved in the dephosphorylation of G-beta and ATP citrate lyase and in negatively regulating CD4 T lymphocytes by dephosphorylation and inhibition of KCa3.1 channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHRF1	chr11	576486	612222	+	ENSG00000070047.11	protein_coding	PPP1R125|RNF221	11p15.5	PHD and ring finger domains 1	Ubiquitous expression in testis (RPKM 9.2), spleen (RPKM 7.4) and 25 other tissues
PHTF1	chr1	113696831	113759489	-	ENSG00000116793.15	protein_coding	PHTF	1p13.2	putative homeodomain transcription factor 1	Broad expression in testis (RPKM 15.3), gall bladder (RPKM 3.5) and 22 other tissues
PHTF2	chr7	77798792	77957503	+	ENSG00000006576.16	protein_coding	-	7q11.23-q21.11	putative homeodomain transcription factor 2	-
PHYH	chr10	13277796	13302412	-	ENSG00000107537.13	protein_coding	LN1|LNAP1|PAHX|PHYH1|RD	10p13	phytanoyl-CoA 2-hydroxylase	This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHYHD1	chr9	128920895	128942041	+	ENSG00000175287.18	protein_coding	-	9q34.11	phytanoyl-CoA dioxygenase domain containing 1	-
PHYHIPL	chr10	59176590	59247774	+	ENSG00000165443.11	protein_coding	-	10q21.1	phytanoyl-CoA 2-hydroxylase interacting protein like	Biased expression in brain (RPKM 57.9), adrenal (RPKM 16.3) and 8 other tissues
PHYKPL	chr5	178208497	178232791	-	ENSG00000175309.14	protein_coding	AGXT2L2|PHLU	5q35.3	5-phosphohydroxy-L-lysine phospho-lyase	This is a nuclear gene encoding a mitochondrial enzyme that catalyzes the conversion of 5-phosphonooxy-L-lysine to ammonia, inorganic phosphate, and 2-aminoadipate semialdehyde. Mutations in this gene may cause phosphohydroxylysinuria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PI15	chr8	74824537	74855029	+	ENSG00000137558.7	protein_coding	CRISP8|P24TI|P25TI	8q21.13	peptidase inhibitor 15	This gene encodes a trypsin inhibitor. The protein shares similarity to insect venom allergens, mammalian testis-specific proteins and plant pathogenesis-related proteins. It is frequently expressed in human neuroblastoma and glioblastoma cell lines, and thus may play a role in the central nervous system. [provided by RefSeq, Jul 2008]
PI16	chr6	36948263	36964837	+	ENSG00000164530.13	protein_coding	CD364|CRISP9|MSMBBP|PSPBP	6p21.2	peptidase inhibitor 16	Biased expression in urinary bladder (RPKM 35.7), heart (RPKM 28.3) and 12 other tissues
PI4K2B	chr4	25233975	25279092	+	ENSG00000038210.12	protein_coding	PI4KIIB|PIK42B	4p15.2	phosphatidylinositol 4-kinase type 2 beta	This gene encodes a member of the type II PI4 kinase protein family. The encoded protein is primarily cytosolic and contributes to overall PI4-kinase activity along with other protein family members. This protein is involved in early T cell activation. [provided by RefSeq, Dec 2016]
PI4KA	chr22	20707691	20859417	-	ENSG00000241973.10	protein_coding	PI4K-ALPHA|PIK4CA|PMGYCHA|pi4K230	22q11.21	phosphatidylinositol 4-kinase alpha	This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2018]
PI4KAP1	chr22	18533646	18577968	-	ENSG00000274602.4	transcribed_unprocessed_pseudogene	-	22q11.21	phosphatidylinositol 4-kinase alpha pseudogene 1	-
PI4KAP2	chr22	21473000	21517533	-	ENSG00000183506.17	transcribed_unprocessed_pseudogene	-	22q11.21	phosphatidylinositol 4-kinase alpha pseudogene 2	-
PI4KB	chr1	151291797	151327715	-	ENSG00000143393.16	protein_coding	NPIK|PI4K-BETA|PI4K92|PI4KBETA|PI4KIII|PI4KIIIBETA|PIK4CB	1q21.3	phosphatidylinositol 4-kinase beta	Ubiquitous expression in thyroid (RPKM 18.9), testis (RPKM 17.6) and 25 other tissues
PIAS1	chr15	68054179	68198603	+	ENSG00000033800.13	protein_coding	DDXBP1|GBP|GU/RH-II|ZMIZ3	15q23	protein inhibitor of activated STAT 1	This gene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. This protein plays a central role as a transcriptional coregulator of numerous cellular pathways includign the STAT1 and nuclear factor kappaB pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PIAS2	chr18	46803224	46920160	-	ENSG00000078043.15	protein_coding	ARIP3|DIP|MIZ1|PIASX|SIZ2|ZMIZ4	18q21.1	protein inhibitor of activated STAT 2	This gene encodes a member of the protein inhibitor of activated STAT family, which function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Isoforms of the encoded protein enhance the sumoylation of specific target proteins including the p53 tumor suppressor protein, c-Jun, and the androgen receptor. A pseudogene of this gene is located on the short arm of chromosome 4. The symbol MIZ1 has also been associated with ZBTB17 which is a different gene located on chromosome 1. [provided by RefSeq, Aug 2017]
PIAS3	chr1	145848522	145859836	-	ENSG00000131788.15	protein_coding	ZMIZ5	1q21.1	protein inhibitor of activated STAT 3	This gene encodes a member of the PIAS [protein inhibitor of activated STAT (signal transducer and activator of transcription)] family of transcriptional modulators. The protein functions as a SUMO (small ubiquitin-like modifier)-E3 ligase which catalyzes the covalent attachment of a SUMO protein to specific target substrates. It directly binds to several transcription factors and either blocks or enhances their activity. Alternatively spliced transcript variants of this gene have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PIAS4	chr19	4007646	4039386	+	ENSG00000105229.6	protein_coding	PIAS-gamma|PIASY|Piasg|ZMIZ6	19p13.3	protein inhibitor of activated STAT 4	Broad expression in testis (RPKM 14.8), spleen (RPKM 3.8) and 25 other tissues
PIBF1	chr13	72782059	73016461	+	ENSG00000083535.15	protein_coding	C13orf24|CEP90|JBTS33|PIBF	13q21.33-q22.1	progesterone immunomodulatory binding factor 1	This gene encodes a protein that is induced by the steroid hormone progesterone and plays a role in the maintenance of pregnancy. The encoded protein regulates multiple facets of the immune system to promote normal pregnancy including cytokine synthesis, natural killer (NK) cell activity, and arachidonic acid metabolism. Low serum levels of this protein have been associated with spontaneous pre-term labor in humans. This protein may promote the proliferation, migration and invasion of glioma. [provided by RefSeq, Mar 2017]
PICALM	chr11	85957684	86069882	-	ENSG00000073921.17	protein_coding	CALM|CLTH|LAP	11q14.2	phosphatidylinositol binding clathrin assembly protein	This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
PICK1	chr22	38056311	38075701	+	ENSG00000100151.15	protein_coding	PICK|PRKCABP	22q13.1	protein interacting with PRKCA 1	The protein encoded by this gene contains a PDZ domain, through which it interacts with protein kinase C, alpha (PRKCA). This protein may function as an adaptor that binds to and organizes the subcellular localization of a variety of membrane proteins. It has been shown to interact with multiple glutamate receptor subtypes, monoamine plasma membrane transporters, as well as non-voltage gated sodium channels, and may target PRKCA to these membrane proteins and thus regulate their distribution and function. This protein has also been found to act as an anchoring protein that specifically targets PRKCA to mitochondria in a ligand-specific manner. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PID1	chr2	228850526	229271285	-	ENSG00000153823.18	protein_coding	HMFN2073|NYGGF4|P-CLI1|PCLI1	2q36.3	phosphotyrosine interaction domain containing 1	Ubiquitous expression in brain (RPKM 7.9), liver (RPKM 5.4) and 24 other tissues
PIDD1	chr11	799179	809753	-	ENSG00000177595.17	protein_coding	LRDD|PIDD	11p15.5	p53-induced death domain protein 1	The protein encoded by this gene contains a leucine-rich repeat and a death domain. This protein has been shown to interact with other death domain proteins, such as Fas (TNFRSF6)-associated via death domain (FADD) and MAP-kinase activating death domain-containing protein (MADD), and thus may function as an adaptor protein in cell death-related signaling processes. The expression of the mouse counterpart of this gene has been found to be positively regulated by the tumor suppressor p53 and to induce cell apoptosis in response to DNA damage, which suggests a role for this gene as an effector of p53-dependent apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
PIEZO1	chr16	88715343	88785211	-	ENSG00000103335.21	protein_coding	DHS|FAM38A|LMPH3|LMPHM6|Mib	16q24.3	piezo type mechanosensitive ion channel component 1	The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis. [provided by RefSeq, Jul 2015]
PIF1	chr15	64815632	64825668	-	ENSG00000140451.12	protein_coding	C15orf20|PIF	15q22.31	PIF1 5'-to-3' DNA helicase	This gene encodes a DNA-dependent adenosine triphosphate (ATP)-metabolizing enzyme that functions as a 5 to 3 DNA helicase. The encoded protein can resolve G-quadruplex structures and RNA-DNA hybrids at the ends of chromosomes. It also prevents telomere elongation by inhibiting the actions of telomerase. Alternative splicing and the use of alternative start codons results in multiple isoforms that are differentially localized to either the mitochondria or the nucleus. [provided by RefSeq, Nov 2013]
PIGC	chr1	172370189	172444086	-	ENSG00000135845.9	protein_coding	GPI2|GPIBD16|MRT62	1q24.3	phosphatidylinositol glycan anchor biosynthesis class C	This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also been characterized. [provided by RefSeq, Jul 2008]
PIGCP1	chr11	33075566	33076460	-	ENSG00000213713.3	processed_pseudogene	-	11p13	phosphatidylinositol glycan anchor biosynthesis class C pseudogene 1	-
PIGF	chr2	46580937	46617119	-	ENSG00000151665.12	protein_coding	OORS	2p21	phosphatidylinositol glycan anchor biosynthesis class F	This gene encodes a protein involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor, a glycolipid containing three mannose molecules in its core backbone, is found on many blood cells where it serves to anchor proteins to the cell surface. The encoded protein and another GPI synthesis protein, PIGO, function in the transfer of ethanolaminephosphate to the third mannose in GPI. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PIGFP2	chr9	123843036	123843686	+	ENSG00000234881.1	processed_pseudogene	-	9q33.3	phosphatidylinositol glycan anchor biosynthesis class F pseudogene 2	-
PIGG	chr4	499210	540196	+	ENSG00000174227.15	protein_coding	GPI7|LAS21|MRT53|PRO4405|RLGS1930	4p16.3	phosphatidylinositol glycan anchor biosynthesis class G	This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PIGH	chr14	67581955	67600287	-	ENSG00000100564.8	protein_coding	GPI-H	14q24.1	phosphatidylinositol glycan anchor biosynthesis class H	This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
PIGK	chr1	77088990	77219430	-	ENSG00000142892.14	protein_coding	GPI8|NEDHCAS	1p31.1	phosphatidylinositol glycan anchor biosynthesis class K	This gene encodes a member of the cysteine protease family C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is a member of the multisubunit enzyme, GPI transamidase and is thought to be its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]
PIGL	chr17	16217191	16351797	+	ENSG00000108474.16	protein_coding	CHIME	17p11.2	phosphatidylinositol glycan anchor biosynthesis class L	This gene encodes an enzyme that catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI). Study of a similar rat enzyme suggests that this protein localizes to the endoplasmic reticulum. [provided by RefSeq, Jul 2008]
PIGN	chr18	61905255	62187118	-	ENSG00000197563.10	protein_coding	MCAHS|MCAHS1|MCD4|MDC4|PIG-N	18q21.33	phosphatidylinositol glycan anchor biosynthesis class N	This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]
PIGO	chr9	35088688	35096601	-	ENSG00000165282.13	protein_coding	HPMRS2	9p13.3	phosphatidylinositol glycan anchor biosynthesis class O	This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
PIGP	chr21	37059170	37073170	-	ENSG00000185808.13	protein_coding	DCRC|DCRC-S|DEE55|DSCR5|DSRC|EIEE55|PIG-P	21q22.13	phosphatidylinositol glycan anchor biosynthesis class P	This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]
PIGQ	chr16	566995	584136	+	ENSG00000007541.16	protein_coding	DEE77|EIEE77|GPI1|c407A10.1	16p13.3	phosphatidylinositol glycan anchor biosynthesis class Q	This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
PIGR	chr1	206928518	206946466	-	ENSG00000162896.5	protein_coding	-	1q32.1	polymeric immunoglobulin receptor	Biased expression in duodenum (RPKM 1246.3), colon (RPKM 1042.2) and 5 other tissues
PIGS	chr17	28553383	28571872	-	ENSG00000087111.20	protein_coding	DEE95|GPIBD18	17q11.2	phosphatidylinositol glycan anchor biosynthesis class S	This gene encodes a protein that is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]
PIGT	chr20	45416067	45456934	+	ENSG00000124155.17	protein_coding	CGI-06|MCAHS3|NDAP|PNH2	20q13.12	phosphatidylinositol glycan anchor biosynthesis class T	This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is an essential component of the multisubunit enzyme, GPI transamidase. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
PIGU	chr20	34560542	34698790	-	ENSG00000101464.10	protein_coding	CDC91L1|GAB1|GPIBD21|NEDBSS	20q11.22	phosphatidylinositol glycan anchor biosynthesis class U	The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attaches GPI-anchors to proteins. [provided by RefSeq, Jul 2008]
PIGUP1	chr9	70916997	70917501	-	ENSG00000224437.2	processed_pseudogene	-	9q21.12	phosphatidylinositol glycan anchor biosynthesis class U pseudogene 1	-
PIGV	chr1	26787472	26798398	+	ENSG00000060642.10	protein_coding	GPI-MT-II|HPMRS1|PIG-V	1p36.11	phosphatidylinositol glycan anchor biosynthesis class V	This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
PIGW	chr17	36535020	36539310	+	ENSG00000277161.1	protein_coding	Gwt1|HPMRS5	17q12	phosphatidylinositol glycan anchor biosynthesis class W	The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of the age-dependent epileptic encephalopathy West syndrome as well as a syndrome exhibiting hyperphosphatasia and cognitive disability (HPMRS5). [provided by RefSeq, Jul 2017]
PIGX	chr3	196639775	196736007	+	ENSG00000163964.14	protein_coding	PIG-X	3q29	phosphatidylinositol glycan anchor biosynthesis class X	This gene encodes a type I transmembrane protein in the endoplasmic reticulum (ER). The protein is an essential component of glycosylphosphatidylinositol-mannosyltransferase I, which transfers the first of the four mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Studies in rat indicate that the protein is translated from a non-AUG translation initiation site. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PIGZ	chr3	196946343	196969060	-	ENSG00000119227.7	protein_coding	GPI-MT-IV|PIG-Z|SMP3	3q29	phosphatidylinositol glycan anchor biosynthesis class Z	The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. [provided by RefSeq, Jul 2008]
PIH1D1	chr19	49446298	49453497	-	ENSG00000104872.10	protein_coding	DNAAF14|MOT48|NOP17|Pih1	19q13.33	PIH1 domain containing 1	Ubiquitous expression in placenta (RPKM 13.7), lymph node (RPKM 13.6) and 25 other tissues
PIH1D2	chr11	112064010	112074274	-	ENSG00000150773.10	protein_coding	DNAAF15	11q23.1	PIH1 domain containing 2	Broad expression in testis (RPKM 17.4), heart (RPKM 9.8) and 20 other tissues
PIK3AP1	chr10	96593312	96720514	-	ENSG00000155629.14	protein_coding	BCAP	10q24.1	phosphoinositide-3-kinase adaptor protein 1	Predicted to enable phosphatidylinositol 3-kinase regulatory subunit binding activity and signaling receptor binding activity. Predicted to be involved in regulation of inflammatory response; regulation of signal transduction; and toll-like receptor signaling pathway. Predicted to be located in cytoplasm and membrane. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
PIK3C2A	chr11	17077730	17207983	-	ENSG00000011405.13	protein_coding	CPK|OCSKD|PI3-K-C2(ALPHA)|PI3-K-C2A|PI3K-C2-alpha|PI3K-C2alpha	11p15.1	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008]
PIK3C2B	chr1	204422628	204494724	-	ENSG00000133056.13	protein_coding	C2-PI3K	1q32.1	phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta	The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is sensitive to low nanomolar levels of the inhibitor wortmanin. The C2 domain of this protein was shown to bind phospholipids but not Ca2+, which suggests that this enzyme may function in a calcium-independent manner. [provided by RefSeq, Jul 2008]
PIK3C3	chr18	41955206	42087830	+	ENSG00000078142.12	protein_coding	VPS34|Vps34|hVps34	18q12.3	phosphatidylinositol 3-kinase catalytic subunit type 3	Ubiquitous expression in testis (RPKM 7.2), brain (RPKM 7.0) and 25 other tissues
PIK3CA	chr3	179148114	179240093	+	ENSG00000121879.3	protein_coding	CCM4|CLAPO|CLOVE|CWS5|MCAP|MCM|MCMTC|PI3K|PI3K-alpha|p110-alpha	3q26.32	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]
PIK3CB	chr3	138652699	138834938	-	ENSG00000051382.8	protein_coding	P110BETA|PI3K|PI3KBETA|PIK3C1	3q22.3	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta	This gene encodes an isoform of the catalytic subunit of phosphoinositide 3-kinase (PI3K). These kinases are important in signaling pathways involving receptors on the outer membrane of eukaryotic cells and are named for their catalytic subunit. The encoded protein is the catalytic subunit for PI3Kbeta (PI3KB). PI3KB has been shown to be part of the activation pathway in neutrophils which have bound immune complexes at sites of injury or infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
PIK3CD	chr1	9651732	9729114	+	ENSG00000171608.15	protein_coding	APDS|IMD14|IMD14A|IMD14B|P110DELTA|PI3K|ROCHIS|p110D	1p36.22	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I PI3K found primarily in leukocytes. Like other class I PI3Ks (p110-alpha p110-beta, and p110-gamma), the encoded protein binds p85 adapter proteins and GTP-bound RAS. However, unlike the other class I PI3Ks, this protein phosphorylates itself, not p85 protein.[provided by RefSeq, Jul 2010]
PIK3CD-AS1	chr1	9652610	9654586	-	ENSG00000179840.5	antisense	C1orf200	1p36.22	PIK3CD antisense RNA 1	Low expression observed in reference dataset
PIK3CG	chr7	106865278	106907145	+	ENSG00000105851.10	protein_coding	PI3CG|PI3K|PI3Kgamma|PIK3|p110gamma|p120-PI3K	7q22.3	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma	Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I catalytic subunits (p110-alpha p110-beta, and p110-delta), the encoded protein binds a p85 regulatory subunit to form PI3K. This gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2015]
PIK3IP1	chr22	31281593	31292534	-	ENSG00000100100.12	protein_coding	HGFL|TrIP|hHGFL(S)	22q12.2	phosphoinositide-3-kinase interacting protein 1	Ubiquitous expression in lymph node (RPKM 60.4), appendix (RPKM 38.3) and 23 other tissues
PIK3IP1-DT	chr22	 31335349	31338021	+	ENSG00000228839	ncRNA	PIK3IP1-AS1	22q12.2	PIK3IP1 divergent transcript	-
PIK3R1	chr5	68215720	68301821	+	ENSG00000145675.14	protein_coding	AGM7|GRB1|IMD36|p85|p85-ALPHA	5q13.1	phosphoinositide-3-kinase regulatory subunit 1	Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
PIK3R2	chr19	18153118	18170540	+	ENSG00000105647.16	protein_coding	MPPH|MPPH1|P85B|p85|p85-BETA	19p13.11	phosphoinositide-3-kinase regulatory subunit 2	Phosphatidylinositol 3-kinase (PI3K) is a lipid kinase that phosphorylates phosphatidylinositol and similar compounds, creating second messengers important in growth signaling pathways. PI3K functions as a heterodimer of a regulatory and a catalytic subunit. The protein encoded by this gene is a regulatory component of PI3K. Three transcript variants, one protein coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Apr 2019]
PIK3R3	chr1	46040140	46133036	-	ENSG00000117461.14	protein_coding	p55|p55-GAMMA|p55PIK	1p34.1	phosphoinositide-3-kinase regulatory subunit 3	Phosphatidylinositol 3-kinase (PI3K) phosphorylates phosphatidylinositol and similar compounds, which then serve as second messengers in growth signaling pathways. PI3K is composed of a catalytic and a regulatory subunit. The protein encoded by this gene represents a regulatory subunit of PI3K. The encoded protein contains two SH2 domains through which it binds activated protein tyrosine kinases to regulate their activity. [provided by RefSeq, Jun 2016]
PIK3R4	chr3	130678935	130746829	-	ENSG00000196455.7	protein_coding	VPS15|p150	3q22.1	phosphoinositide-3-kinase regulatory subunit 4	Ubiquitous expression in thyroid (RPKM 9.2), testis (RPKM 8.7) and 25 other tissues
PIK3R5	chr17	8878911	8965712	-	ENSG00000141506.13	protein_coding	F730038I15Rik|FOAP-2|P101-PI3K|p101	17p13.1	phosphoinositide-3-kinase regulatory subunit 5	Phosphatidylinositol 3-kinases (PI3Ks) phosphorylate the inositol ring of phosphatidylinositol at the 3-prime position, and play important roles in cell growth, proliferation, differentiation, motility, survival and intracellular trafficking. The PI3Ks are divided into three classes: I, II and III, and only the class I PI3Ks are involved in oncogenesis. This gene encodes the 101 kD regulatory subunit of the class I PI3K gamma complex, which is a dimeric enzyme, consisting of a 110 kD catalytic subunit gamma and a regulatory subunit of either 55, 87 or 101 kD. This protein recruits the catalytic subunit from the cytosol to the plasma membrane through high-affinity interaction with G-beta-gamma proteins. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found. [provided by RefSeq, Oct 2011]
PIK3R6	chr17	8802723	8867677	-	ENSG00000276231.4	protein_coding	C17orf38|HsT41028|p84 PIKAP|p87(PIKAP)|p87PIKAP	17p13.1	phosphoinositide-3-kinase regulatory subunit 6	Phosphoinositide 3-kinase gamma is a lipid kinase that produces the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. The kinase is composed of a catalytic subunit and one of several regulatory subunits, and is chiefly activated by G protein-coupled receptors. This gene encodes a regulatory subunit, and is distantly related to the phosphoinositide-3-kinase, regulatory subunit 5 gene which is located adjacent to this gene on chromosome 7. The orthologous protein in the mouse binds to both the catalytic subunit and to G(beta/gamma), and mediates activation of the kinase subunit downstream of G protein-coupled receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PIKFYVE	chr2	208266267	208358751	+	ENSG00000115020.16	protein_coding	CFD|FAB1|HEL37|PIP5K|PIP5K3|ZFYVE29	2q34	phosphoinositide kinase, FYVE-type zinc finger containing	Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. The protein plays a key role in cell entry of ebola virus and SARS-CoV-2 by endocytosis Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. [provided by RefSeq, Jul 2021]
PILRA	chr7	100367530	100400099	+	ENSG00000085514.15	protein_coding	FDF03	7q22.1	paired immunoglobin like type 2 receptor alpha	Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearing, activating counterparts. Control of cell signaling via SHP-1 is thought to occur through a balance between PILRalpha-mediated inhibition and PILRbeta-mediated activation. These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This particular gene encodes the ITIM-bearing member of the receptor pair, which functions in the inhibitory role. Alternative splicing has been observed at this locus and three variants, each encoding a distinct isoform, are described. [provided by RefSeq, Jul 2008]
PILRB	chr7	100352176	100367733	+	ENSG00000121716.20	protein_coding	FDFACT1|FDFACT2	7q22.1	paired immunoglobin like type 2 receptor beta	The paired immunoglobin-like type 2 receptors consist of highly related activating and inhibitory receptors that are involved in the regulation of many aspects of the immune system. The paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This gene encodes the activating member of the receptor pair and contains a truncated cytoplasmic tail relative to its inhibitory counterpart (PILRA), that has a long cytoplasmic tail with immunoreceptor tyrosine-based inhibitory (ITIM) motifs. This gene is thought to have arisen from a duplication of the inhibitory PILRA gene and evolved to acquire its activating function. [provided by RefSeq, Jun 2013]
PIM1	chr6	37170203	37175426	+	ENSG00000137193.13	protein_coding	PIM	6p21.2	Pim-1 proto-oncogene, serine/threonine kinase	The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is expressed primarily in B-lymphoid and myeloid cell lines, and is overexpressed in hematopoietic malignancies and in prostate cancer. It plays a role in signal transduction in blood cells, contributing to both cell proliferation and survival, and thus provides a selective advantage in tumorigenesis. Both the human and orthologous mouse genes have been reported to encode two isoforms (with preferential cellular localization) resulting from the use of alternative in-frame translation initiation codons, the upstream non-AUG (CUG) and downstream AUG codons (PMIDs:16186805, 1825810).[provided by RefSeq, Aug 2011]
PIM3	chr22	49960513	49964080	+	ENSG00000198355.4	protein_coding	pim-3	22q13.33	Pim-3 proto-oncogene, serine/threonine kinase	The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is overexpressed in hematological and epithelial tumors and is associated with MYC coexpression. It plays a role in the regulation of signal transduction cascades, contributing to both cell proliferation and survival, and provides a selective advantage in tumorigenesis. [provided by RefSeq, Jun 2012]
PIN1	chr19	9835257	9849682	+	ENSG00000127445.13	protein_coding	DOD|UBL5	19p13.2	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	Peptidyl-prolyl cis/trans isomerases (PPIases) catalyze the cis/trans isomerization of peptidyl-prolyl peptide bonds. This gene encodes one of the PPIases, which specifically binds to phosphorylated ser/thr-pro motifs to catalytically regulate the post-phosphorylation conformation of its substrates. The conformational regulation catalyzed by this PPIase has a profound impact on key proteins involved in the regulation of cell growth, genotoxic and other stress responses, the immune response, induction and maintenance of pluripotency, germ cell development, neuronal differentiation, and survival. This enzyme also plays a key role in the pathogenesis of Alzheimers disease and many cancers. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]
PIN4P1	chr15	43875849	43876244	-	ENSG00000227973.1	processed_pseudogene	-	15q15.3	peptidylprolyl cis/trans isomerase, NIMA-interacting 4 pseudogene 1	-
PINK1	chr1	20633455	20651511	+	ENSG00000158828.7	protein_coding	BRPK|PARK6	1p36.12	PTEN induced kinase 1	This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq, Jul 2008]
PINLYP	chr19	43576800	43583964	+	ENSG00000234465.10	protein_coding	-	19q13.31	phospholipase A2 inhibitor and LY6/PLAUR domain containing	-
PINX1	chr8	10764963	10839884	-	ENSG00000254093.8	protein_coding	Gno1|LPTL|LPTS|Pxr1	8p23.1	PIN2 (TERF1) interacting telomerase inhibitor 1	Ubiquitous expression in lymph node (RPKM 5.1), appendix (RPKM 4.5) and 25 other tissues
PIP4K2A	chr10	22534849	22714555	-	ENSG00000150867.13	protein_coding	PI5P4KA|PIP5K2A|PIP5KII-alpha|PIP5KIIA|PIPK	10p12.2	phosphatidylinositol-5-phosphate 4-kinase type 2 alpha	Phosphatidylinositol-5,4-bisphosphate, the precursor to second messengers of the phosphoinositide signal transduction pathways, is thought to be involved in the regulation of secretion, cell proliferation, differentiation, and motility. The protein encoded by this gene is one of a family of enzymes capable of catalyzing the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. The amino acid sequence of this enzyme does not show homology to other kinases, but the recombinant protein does exhibit kinase activity. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. [provided by RefSeq, Jul 2008]
PIP4K2B	chr17	38765689	38800126	-	ENSG00000276293.4	protein_coding	PI5P4KB|PIP5K2B|PIP5KIIB|PIP5KIIbeta|PIP5P4KB	17q12	phosphatidylinositol-5-phosphate 4-kinase type 2 beta	The protein encoded by this gene catalyzes the phosphorylation of phosphatidylinositol-5-phosphate on the fourth hydroxyl of the myo-inositol ring to form phosphatidylinositol-5,4-bisphosphate. This gene is a member of the phosphatidylinositol-5-phosphate 4-kinase family. The encoded protein sequence does not show similarity to other kinases, but the protein does exhibit kinase activity. Additionally, the encoded protein interacts with p55 TNF receptor. [provided by RefSeq, Jul 2008]
PIP4K2C	chr12	57591174	57603418	+	ENSG00000166908.17	protein_coding	PIP5K2C	12q13.3	phosphatidylinositol-5-phosphate 4-kinase type 2 gamma	Ubiquitous expression in testis (RPKM 18.0), kidney (RPKM 16.8) and 25 other tissues
PIP4P2	chr8	 90993802	91040859	-	ENSG00000155099	protein-coding	TMEM55A	8q21.3	phosphatidylinositol-4,5-bisphosphate 4-phosphatase 2	TMEM55A catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]
PIP5K1A	chr1	151197949	151249536	+	ENSG00000143398.19	protein_coding	-	1q21.3	phosphatidylinositol-4-phosphate 5-kinase type 1 alpha	-
PIP5K1B	chr9	68705414	69009176	+	ENSG00000107242.17	protein_coding	MSS4|STM7	9q21.11	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	Broad expression in colon (RPKM 8.2), duodenum (RPKM 7.6) and 20 other tissues
PIP5K1C	chr19	3630183	3700479	-	ENSG00000186111.9	protein_coding	LCCS3|PIP5K-GAMMA|PIP5K1-gamma|PIP5Kgamma	19p13.3	phosphatidylinositol-4-phosphate 5-kinase type 1 gamma	This locus encodes a type I phosphatidylinositol 4-phosphate 5-kinase. The encoded protein catalyzes phosphorylation of phosphatidylinositol 4-phosphate, producing phosphatidylinositol 4,5-bisphosphate. This enzyme is found at synapses and has been found to play roles in endocytosis and cell migration. Mutations at this locus have been associated with lethal congenital contractural syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Sep 2010]
PIPOX	chr17	28950513	29057220	+	ENSG00000179761.11	protein_coding	LPIPOX	17q11.2	pipecolic acid and sarcosine oxidase	Biased expression in liver (RPKM 113.3) and kidney (RPKM 56.6)
PIPSL	chr10	93958191	93961540	-	ENSG00000180764.13	transcribed_processed_pseudogene	PIP5K1L1|PIP5K1P3|PSMD4P2|bA429H9.1	10q23.33	PIP5K1A and PSMD4 like (pseudogene)	This locus is a transcribed pseudogene with similarity to two adjacent chromosome 1 loci: phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A, GeneID 8394) and proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4, GeneID 5710). The pseudogene is believed to have occurred from L1 retrotransposition into chromosome 10 of a read-through transcript between the two adjacent loci. Evidence of transcription has been found (PubMed IDs: 16344562 and 17623810), but the latter publication found no evidence that the predicted protein is translated. The NCBI RefSeq Project therefore continues to treat this as a transcribed pseudogene. [provided by RefSeq, Jan 2009]
PISD	chr22	31618491	31662432	-	ENSG00000241878.11	protein_coding	DJ858B16|LIBF|PSD|PSDC|PSSC|dJ858B16.2	22q12.2	phosphatidylserine decarboxylase	The protein encoded by this gene catalyzes the conversion of phosphatidylserine to phosphatidylethanolamine in the inner mitochondrial membrane. The encoded protein is active in phospholipid metabolism and interorganelle trafficking of phosphatidylserine. [provided by RefSeq, May 2016]
PITHD1	chr1	23778405	23788232	+	ENSG00000057757.9	protein_coding	C1orf128|HT014|TXNL1CL	1p36.11	PITH domain containing 1	Ubiquitous expression in brain (RPKM 48.5), bone marrow (RPKM 31.2) and 25 other tissues
PITPNA	chr17	1517718	1562816	-	ENSG00000174238.14	protein_coding	HEL-S-36|PI-TPalpha|PITPN|VIB1A	17p13.3	phosphatidylinositol transfer protein alpha	This gene encodes a member of a family of lipid-binding proteins that transfer molecules of phosphatidylinositol or phosphatidylcholine between membrane surfaces. The protein is implicated in phospholipase C signaling and in the production of phosphatidylinositol 3,4,5-trisphosphate (PIP3) by phosphoinositide-3-kinase.[provided by RefSeq, Sep 2009]
PITPNB	chr22	27851669	27920134	-	ENSG00000180957.17	protein_coding	PI-TP-beta|PtdInsTP|VIB1B	22q12.1	phosphatidylinositol transfer protein beta	This gene encodes a cytoplasmic protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. This transfer activity is required for COPI complex-mediated retrograde transport from the Golgi apparatus to the endoplasmic reticulum. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PITPNC1	chr17	67377281	67697261	+	ENSG00000154217.14	protein_coding	M-RDGB-beta|MRDGBbeta|RDGB-BETA|RDGBB|RDGBB1	17q24.2	phosphatidylinositol transfer protein cytoplasmic 1	This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein plays a role in multiple processes including cell signaling and lipid metabolism by facilitating the transfer of phosphatidylinositol between membrane compartments. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, May 2012]
PITPNM1	chr11	67491768	67506263	-	ENSG00000110697.12	protein_coding	DRES9|NIR2|PITPNM|RDGB|RDGB1|RDGBA|RDGBA1|Rd9	11q13.2	phosphatidylinositol transfer protein membrane associated 1	PITPNM1 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]
PITPNM2	chr12	122983480	123150015	-	ENSG00000090975.12	protein_coding	NIR-3|NIR3|RDGB2|RDGBA2	12q24.31	phosphatidylinositol transfer protein membrane associated 2	PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]
PITPNM3	chr17	6451264	6556494	-	ENSG00000091622.15	protein_coding	ACKR6|CORD5|NIR1|RDGBA3	17p13.2-p13.1	PITPNM family member 3	This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PITRM1	chr10	3137728	3172841	-	ENSG00000107959.15	protein_coding	MP1|PreP|SCAR30	10p15.2	pitrilysin metallopeptidase 1	The protein encoded by this gene is an ATP-dependent metalloprotease that degrades post-cleavage mitochondrial transit peptides. The encoded protein binds zinc and can also degrade amyloid beta A4 protein, suggesting a possible role in Alzheimers disease. [provided by RefSeq, Dec 2016]
PITRM1-AS1	chr10	3141632	3167972	+	ENSG00000237399.7	antisense	-	10p15.2	PITRM1 antisense RNA 1	-
PITX1	chr5	135027735	135034813	-	ENSG00000069011.15	protein_coding	BFT|CCF|LBNBG|POTX|PTX1	5q31.1	paired like homeodomain 1	This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. [provided by RefSeq, Jul 2008]
PITX1-AS1	chr5	 135033274	135344680	+	ENSG00000224186	ncRNA	C5orf66	5q31.1	PITX1 antisense RNA 1	-
PITX3	chr10	102230186	102241474	-	ENSG00000107859.9	protein_coding	ASGD1|ASMD|ASOD|CTPP4|CTRCT11|PTX3	10q24.32	paired like homeodomain 3	This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts. [provided by RefSeq, Jul 2008]
PIWIL1	chr12	130337887	130372637	+	ENSG00000125207.7	protein_coding	CT80.1|HIWI|MIWI|PIWI	12q24.33	piwi like RNA-mediated gene silencing 1	This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoietic stem cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
PJA2	chr5	109334709	109409994	-	ENSG00000198961.9	protein_coding	Neurodap1|RNF131	5q21.3	praja ring finger ubiquitin ligase 2	Ubiquitous expression in brain (RPKM 108.1), thyroid (RPKM 63.6) and 24 other tissues
PJVK	chr2	 178451378	178462102	+	ENSG00000204311	protein-coding	DFNB59	2q31.2	pejvakin	The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]
PKD1	chr16	2088710	2135898	-	ENSG00000008710.19	protein_coding	PBP|PC1|Pc-1|TRPP1	16p13.3	polycystin 1, transient receptor potential channel interacting	This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]
PKD1L3	chr16	71929538	71999978	-	ENSG00000277481.1	protein_coding	-	16q22.2	polycystin 1 like 3, transient receptor potential channel interacting	Ubiquitous expression in gall bladder (RPKM 11.1), spleen (RPKM 10.8) and 25 other tissues
PKD1P6	chr16	15125242	15154564	-	ENSG00000250251.6	transcribed_unprocessed_pseudogene	HG6	16p13.11	polycystin 1, transient receptor potential channel interacting pseudogene 6	-
PKD2	chr4	88007668	88077777	+	ENSG00000118762.7	protein_coding	APKD2|PC2|PKD4|Pc-2|TRPP2	4q22.1	polycystin 2, transient receptor potential cation channel	This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]
PKD2L1	chr10	100288154	100330486	-	ENSG00000107593.16	protein_coding	PCL|PKD2L|PKDL|TRPP3	10q24.31	polycystin 2 like 1, transient receptor potential cation channel	This gene encodes a member of the polycystin protein family. The encoded protein contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix interactions. This protein functions as a calcium-regulated nonselective cation channel. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PKD2L2	chr5	137887968	137942747	+	ENSG00000078795.16	protein_coding	TRPP5	5q31.2	polycystin 2 like 2, transient receptor potential cation channel	Broad expression in testis (RPKM 6.7), endometrium (RPKM 3.3) and 24 other tissues
PKDCC	chr2	42048020	42058528	+	ENSG00000162878.12	protein_coding	RLSDF|SGK493|Vlk	2p21	protein kinase domain containing, cytoplasmic	Broad expression in ovary (RPKM 28.2), endometrium (RPKM 26.6) and 22 other tissues
PKDREJ	chr22	46255663	46263355	-	ENSG00000130943.6	protein_coding	-	22q13.31	polycystin family receptor for egg jelly	-
PKHD1	chr6	51615300	52087625	-	ENSG00000170927.14	protein_coding	ARPKD|FCYT|FPC|PKD4|TIGM1	6p12.3-p12.2	PKHD1 ciliary IPT domain containing fibrocystin/polyductin	The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]
PKHD1L1	chr8	109362477	109530330	+	ENSG00000205038.11	protein_coding	PKHDL1	8q23.1-q23.2	PKHD1 like 1	Biased expression in thyroid (RPKM 10.5) and lymph node (RPKM 0.8)
PKIA	chr8	78516139	78605267	+	ENSG00000171033.12	protein_coding	PRKACN1	8q21.13	cAMP-dependent protein kinase inhibitor alpha	The protein encoded by this gene is a member of the cAMP-dependent protein kinase (PKA) inhibitor family. This protein was demonstrated to interact with and inhibit the activities of both C alpha and C beta catalytic subunits of the PKA. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
PKIA-AS1	chr8	78426103	78558503	-	ENSG00000254266.5	lincRNA	-	8q21.13	PKIA antisense RNA 1	-
PKIB	chr6	122471917	122726373	+	ENSG00000135549.14	protein_coding	PRKACN2	6q22.31	cAMP-dependent protein kinase inhibitor beta	This gene encodes a member of the cAMP-dependent protein kinase inhibitor family. The encoded protein may play a role in the protein kinase A (PKA) pathway by interacting with the catalytic subunit of PKA, and overexpression of this gene may play a role in prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PKLR	chr1	155289839	155301434	-	ENSG00000143627.17	protein_coding	PK1|PKL|PKRL|RPK	1q22	pyruvate kinase L/R	The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PKM	chr15	72199029	72231822	-	ENSG00000067225.17	protein_coding	CTHBP|HEL-S-30|OIP3|PK3|PKM2|TCB|THBP1|p58	15q23	pyruvate kinase M1/2	This gene encodes a protein involved in glycolysis. The encoded protein is a pyruvate kinase that catalyzes the transfer of a phosphoryl group from phosphoenolpyruvate to ADP, generating ATP and pyruvate. This protein has been shown to interact with thyroid hormone and may mediate cellular metabolic effects induced by thyroid hormones. This protein has been found to bind Opa protein, a bacterial outer membrane protein involved in gonococcal adherence to and invasion of human cells, suggesting a role of this protein in bacterial pathogenesis. Several alternatively spliced transcript variants encoding a few distinct isoforms have been reported. [provided by RefSeq, May 2011]
PKMP1	chr1	114535995	114537840	+	ENSG00000236480.1	processed_pseudogene	-	1p13.2	pyruvate kinase M1/2 pseudogene 1	-
PKMYT1	chr16	2968024	2980539	-	ENSG00000127564.16	protein_coding	MYT1|PPP1R126	16p13.3	protein kinase, membrane associated tyrosine/threonine 1	This gene encodes a member of the serine/threonine protein kinase family. The encoded protein is a membrane-associated kinase that negatively regulates the G2/M transition of the cell cycle by phosphorylating and inactivating cyclin-dependent kinase 1. The activity of the encoded protein is regulated by polo-like kinase 1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
PKN2	chr1	88684222	88836255	+	ENSG00000065243.19	protein_coding	PAK2|PRK2|PRKCL2|PRO2042|Pak-2|STK7	1p22.2	protein kinase N2	Ubiquitous expression in ovary (RPKM 11.1), duodenum (RPKM 10.9) and 25 other tissues
PKN2-AS1	chr1	88537513	88685204	-	ENSG00000237505.6	antisense	-	1p22.2	PKN2 antisense RNA 1	-
PKN3	chr9	128702523	128720918	+	ENSG00000160447.6	protein_coding	UTDP4-1	9q34.11	protein kinase N3	Ubiquitous expression in fat (RPKM 3.9), lung (RPKM 3.1) and 25 other tissues
PKNOX1	chr21	42974510	43033931	+	ENSG00000160199.14	protein_coding	PREP1|pkonx1c	21q22.3	PBX/knotted 1 homeobox 1	Ubiquitous expression in testis (RPKM 8.3), thyroid (RPKM 6.8) and 25 other tissues
PKP1	chr1	201283452	201332993	+	ENSG00000081277.12	protein_coding	B6P|EDSFS	1q32.1	plakophilin 1	This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
PKP2	chr12	32790745	32896840	-	ENSG00000057294.14	protein_coding	ARVD9	12p11.21	plakophilin 2	This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene product may regulate the signaling activity of beta-catenin. Two alternately spliced transcripts encoding two protein isoforms have been identified. A processed pseudogene with high similarity to this locus has been mapped to chromosome 12p13. [provided by RefSeq, Jul 2008]
PKP3	chr11	392614	404908	+	ENSG00000184363.9	protein_coding	-	11p15.5	plakophilin 3	Biased expression in skin (RPKM 51.4), esophagus (RPKM 46.7) and 11 other tissues
PKP4	chr2	158456964	158682879	+	ENSG00000144283.21	protein_coding	p0071	2q24.1	plakophilin 4	Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila armadillo gene product, that are typically 42 to 45 amino acids in length. These proteins can be divided into subfamilies based on their number of repeats, their overall sequence similarity, and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be a component of desmosomal plaque and other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
PLA1A	chr3	119597842	119629811	+	ENSG00000144837.8	protein_coding	PS-PLA1|PSPLA1	3q13.33	phospholipase A1 member A	The protein encoded by this gene is a phospholipase that hydrolyzes fatty acids at the sn-1 position of phosphatidylserine and 1-acyl-2-lysophosphatidylserine. This secreted protein hydrolyzes phosphatidylserine in liposomes. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
PLA2G10	chr16	14672545	14694669	-	ENSG00000069764.9	protein_coding	GXPLA2|GXSPLA2|SPLA2|sPLA2-X	16p13.12	phospholipase A2 group X	This gene encodes a member of the phospholipase A2 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This calcium-dependent enzyme hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids. In one example, this enzyme catalyzes the release of arachidonic acid from cell membrane phospholipids, thus playing a role in the production of various inflammatory lipid mediators, such as prostaglandins. The encoded protein may promote the survival of breast cancer cells through its role in lipid metabolism. [provided by RefSeq, Nov 2015]
PLA2G12A	chr4	109709989	109730077	-	ENSG00000123739.10	protein_coding	GXII|PLA2G12|ROSSY	4q25	phospholipase A2 group XIIA	Secreted phospholipase A2 (sPLA2) enzymes liberate arachidonic acid from phospholipids for production of eicosanoids and exert a variety of physiologic and pathologic effects. Group XII sPLA2s, such as PLA2G12A, have relatively low specific activity and are structurally and functionally distinct from other sPLA2s (Gelb et al., 2000 [PubMed 11031251]).[supplied by OMIM, Mar 2008]
PLA2G12B	chr10	72935170	72954778	-	ENSG00000138308.5	protein_coding	FKSG71|GXIIB|GXIIIsPLA2|PLA2G13|sPLA2-GXIIB	10q22.1	phospholipase A2 group XIIB	The protein encoded by this gene belongs to the phospholipase A2 (PLA2) group of enzymes, which function in glycolipid hydrolysis with the release of free fatty acids and lysophospholipids. This family member has altered phospholipid-binding properties and is catalytically inactive. The protein is secreted, and together with microsomal triglyceride transfer protein, it functions to regulate HNF4alpha-induced hepatitis C virus infectivity. The expression of this gene is down-regulated in various tumors, suggesting that it may function as a negative regulator of tumor progression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PLA2G15	chr16	68245304	68261062	+	ENSG00000103066.12	protein_coding	ACS|GXVPLA2|LLPL|LPLA2|LYPLA3	16q22.1	phospholipase A2 group XV	Lysophospholipases are enzymes that act on biological membranes to regulate the multifunctional lysophospholipids. The protein encoded by this gene hydrolyzes lysophosphatidylcholine to glycerophosphorylcholine and a free fatty acid. This enzyme is present in the plasma and thought to be associated with high-density lipoprotein. A later paper contradicts the function of this gene. It demonstrates that this gene encodes a lysosomal enzyme instead of a lysophospholipase and has both calcium-independent phospholipase A2 and transacylase activities. [provided by RefSeq, Jul 2008]
PLA2G1B	chr12	120322111	120327789	-	ENSG00000170890.13	protein_coding	PLA2|PLA2A|PPLA2	12q24.31	phospholipase A2 group IB	This gene encodes a secreted member of the phospholipase A2 (PLA2) class of enzymes, which is produced by the pancreatic acinar cells. The encoded calcium-dependent enzyme catalyzes the hydrolysis of the sn-2 position of membrane glycerophospholipids to release arachidonic acid (AA) and lysophospholipids. AA is subsequently converted by downstream metabolic enzymes to several bioactive lipophilic compounds (eicosanoids), including prostaglandins (PGs) and leukotrienes (LTs). The enzyme may be involved in several physiological processes including cell contraction, cell proliferation and pathological response. [provided by RefSeq, Aug 2013]
PLA2G2A	chr1	19975431	19980416	-	ENSG00000188257.10	protein_coding	MOM1|PLA2|PLA2B|PLA2L|PLA2S|PLAS1|sPLA2	1p36.13	phospholipase A2 group IIA	The protein encoded by this gene is a member of the phospholipase A2 family (PLA2). PLA2s constitute a diverse family of enzymes with respect to sequence, function, localization, and divalent cation requirements. This gene product belongs to group II, which contains secreted form of PLA2, an extracellular enzyme that has a low molecular mass and requires calcium ions for catalysis. It catalyzes the hydrolysis of the sn-2 fatty acid acyl ester bond of phosphoglycerides, releasing free fatty acids and lysophospholipids, and thought to participate in the regulation of the phospholipid metabolism in biomembranes. Several alternatively spliced transcript variants with different 5 UTRs have been found for this gene.[provided by RefSeq, Sep 2009]
PLA2G2C	chr1	20161253	20177424	-	ENSG00000187980.6	protein_coding	UBXN10-AS1	1p36.12	phospholipase A2 group IIC	Low expression observed in reference dataset
PLA2G2F	chr1	20139326	20150386	+	ENSG00000158786.4	protein_coding	GIIFsPLA2|sPLA2-IIF	1p36.12	phospholipase A2 group IIF	Biased expression in skin (RPKM 4.4), urinary bladder (RPKM 2.2) and 1 other tissue
PLA2G3	chr22	31134809	31140607	-	ENSG00000100078.3	protein_coding	GIII-SPLA2|SPLA2III|sPLA2-III	22q12.2	phospholipase A2 group III	This gene encodes a protein that belongs to the secreted phospholipase A2 family, whose members include the bee venom enzyme. The encoded enzyme functions in lipid metabolism and catalyzes the calcium-dependent hydrolysis of the sn-2 acyl bond of phospholipids to release arachidonic acid and lysophospholipids. This enzyme acts as a negative regulator of ciliogenesis, and may play a role in cancer development by stimulating tumor cell growth and angiogenesis. This gene is associated with oxidative stress, and polymorphisms in this gene are linked to risk for Alzheimers disease. [provided by RefSeq, Apr 2014]
PLA2G4B	chr15	41837775	41848147	+	ENSG00000243708.10	protein_coding	HsT16992|cPLA2-beta	15q15.1	phospholipase A2 group IVB	This gene encodes a member of the cytosolic phospholipase A2 protein family. Phospholipase A2 enzymes hydrolyze the sn-2 bond of phospholipids, releasing lysophospholipids and fatty acids. This enzyme may be associated with mitochondria and early endosomes. Most tissues also express read-through transcripts from the upstream gene into this gene, some of which may encode fusion proteins combining the N-terminus of the upstream gene including its JmjC domain with the almost complete coding region of this gene, including the C2 and cytoplasmic phospholipase A2 domains. [provided by RefSeq, Jul 2008]
PLA2G4C	chr19	48047843	48110817	-	ENSG00000105499.13	protein_coding	CPLA2-gamma	19q13.33	phospholipase A2 group IVC	This gene encodes a protein which is a member of the phospholipase A2 enzyme family which hydrolyzes glycerophospholipids to produce free fatty acids and lysophospholipids, both of which serve as precursors in the production of signaling molecules. The encoded protein has been shown to be a calcium-independent and membrane bound enzyme. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
PLA2G4D	chr15	42067009	42094554	-	ENSG00000159337.6	protein_coding	cPLA2delta	15q15.1	phospholipase A2 group IVD	The phospholipase A2 enzyme family, including PLA2G4D, catalyze the hydrolysis of glycerophospholipids at the sn-2 position and then liberate free fatty acids and lysophospholipids (Chiba et al., 2004 [PubMed 14709560]).[supplied by OMIM, Jun 2009]
PLA2G4E	chr15	41981582	42051190	-	ENSG00000188089.13	protein_coding	-	15q15.1	phospholipase A2 group IVE	Restricted expression toward skin (RPKM 22.1)
PLA2G4E-AS1	chr15	41972763	41999094	+	ENSG00000246740.2	antisense	-	15q15.1	PLA2G4E antisense RNA 1	-
PLA2G4F	chr15	42139034	42156636	-	ENSG00000168907.13	protein_coding	PLA2G4FZ	15q15.1	phospholipase A2 group IVF	Biased expression in skin (RPKM 54.3), lung (RPKM 12.6) and 6 other tissues
PLA2G5	chr1	20028179	20091190	+	ENSG00000127472.10	protein_coding	FRFB|GV-PLA2|PLA2-10|hVPLA(2)	1p36.13	phospholipase A2 group V	This gene is a member of the secretory phospholipase A2 family. It is located in a tightly-linked cluster of secretory phospholipase A2 genes on chromosome 1. The encoded enzyme catalyzes the hydrolysis of membrane phospholipids to generate lysophospholipids and free fatty acids including arachidonic acid. It preferentially hydrolyzes linoleoyl-containing phosphatidylcholine substrates. Secretion of this enzyme is thought to induce inflammatory responses in neighboring cells. Alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
PLA2G6	chr22	38111495	38205690	-	ENSG00000184381.18	protein_coding	CaI-PLA2|GVI|INAD1|IPLA2-VIA|NBIA2|NBIA2A|NBIA2B|PARK14|PLA2|PNPLA9|iPLA2|iPLA2beta	22q13.1	phospholipase A2 group VI	The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]
PLA2G7	chr6	46704201	46735693	-	ENSG00000146070.16	protein_coding	LDL-PLA2|LP-PLA2|PAFAD|PAFAH	6p12.3	phospholipase A2 group VII	The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009]
PLA2R1	chr2	159932006	160062610	-	ENSG00000153246.12	protein_coding	CLEC13C|PLA2-R|PLA2G1R|PLA2IR|PLA2R	2q24.2	phospholipase A2 receptor 1	This gene represents a phospholipase A2 receptor. The encoded protein likely exists as both a transmembrane form and a soluble form. The transmembrane receptor may play a role in clearance of phospholipase A2, thereby inhibiting its action. Polymorphisms at this locus have been associated with susceptibility to idiopathic membranous nephropathy. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
PLAA	chr9	26904083	26947463	-	ENSG00000137055.14	protein_coding	DOA1|NDMSBA|PLA2P|PLAP	9p21.2	phospholipase A2 activating protein	Ubiquitous expression in testis (RPKM 6.9), bone marrow (RPKM 5.3) and 25 other tissues
PLAAT3	chr11	 63574462	63616927	-	ENSG00000176485	protein-coding	AdPLA|H-REV107|H-REV107-1|HRASLS3|HREV107|HREV107-1|HREV107-3|HRSL3|PLA2G16|PLAAT-3	11q12.3-q13.1	phospholipase A and acyltransferase 3	Biased expression in fat (RPKM 173.9), testis (RPKM 32.8) and 11 other tissues
PLAAT5	chr11	 63461404	63491167	-	ENSG00000168004	protein-coding	HRASLS5|HRLP5|HRSL5|PLAAT-5|RLP1|iNAT	11q12.3	phospholipase A and acyltransferase 5	Enables N-acyltransferase activity; phospholipase A1 activity; and phospholipase A2 activity. Acts upstream of or within N-acylphosphatidylethanolamine metabolic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
PLAC4	chr21	41175231	41185239	-	ENSG00000280109.1	TEC	C21orf115|PRED78	21q22.2	placenta enriched 4	-
PLAC8	chr4	83090048	83137075	-	ENSG00000145287.10	protein_coding	C15|DGIC|PNAS-144|onzin	4q21.22	placenta associated 8	Biased expression in bone marrow (RPKM 48.1), colon (RPKM 47.5) and 10 other tissues
PLAC8L1	chr5	146084386	146104369	-	ENSG00000173261.8	protein_coding	-	5q32	PLAC8 like 1	-
PLAC9	chr10	80131682	80145359	+	ENSG00000189129.13	protein_coding	-	10q22.3	placenta associated 9	-
PLAG1	chr8	56160904	56211324	-	ENSG00000181690.7	protein_coding	PSA|SGPA|SRS4|ZNF912	8q12.1	PLAG1 zinc finger	Pleomorphic adenoma gene 1 encodes a zinc finger protein with 2 putative nuclear localization signals. PLAG1, which is developmentally regulated, has been shown to be consistently rearranged in pleomorphic adenomas of the salivary glands. PLAG1 is activated by the reciprocal chromosomal translocations involving 8q12 in a subset of salivary gland pleomorphic adenomas. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PLAGL1	chr6	143940300	144064599	-	ENSG00000118495.18	protein_coding	LOT1|ZAC|ZAC1	6q24.2	PLAG1 like zinc finger 1	This gene encodes a C2H2 zinc finger protein that functions as a suppressor of cell growth. This gene is often deleted or methylated and silenced in cancer cells. In addition, overexpression of this gene during fetal development is thought to be the causal factor for transient neonatal diabetes mellitus (TNDM). Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding two different protein isoforms. The P1 downstream promoter of this gene is imprinted, with preferential expression from the paternal allele in many tissues. [provided by RefSeq, Nov 2015]
PLAGL2	chr20	32192503	32207791	-	ENSG00000126003.6	protein_coding	ZNF900	20q11.21	PLAG1 like zinc finger 2	 Pleiomorphic adenoma gene-like 2 is a zinc-finger protein that recognizes DNA and/or RNA. [provided by RefSeq, Jul 2008]
PLAT	chr8	42175233	42207724	-	ENSG00000104368.17	protein_coding	T-PA|TPA	8p11.21	plasminogen activator, tissue type	This gene encodes tissue-type plasminogen activator, a secreted serine protease that converts the proenzyme plasminogen to plasmin, a fibrinolytic enzyme. The encoded preproprotein is proteolytically processed by plasmin or trypsin to generate heavy and light chains. These chains associate via disulfide linkages to form the heterodimeric enzyme. This enzyme plays a role in cell migration and tissue remodeling. Increased enzymatic activity causes hyperfibrinolysis, which manifests as excessive bleeding, while decreased activity leads to hypofibrinolysis, which can result in thrombosis or embolism. Alternative splicing of this gene results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
PLAU	chr10	73909177	73917497	+	ENSG00000122861.15	protein_coding	ATF|BDPLT5|QPD|UPA|URK|u-PA	10q22.2	plasminogen activator, urokinase	This gene encodes a secreted serine protease that converts plasminogen to plasmin. The encoded preproprotein is proteolytically processed to generate A and B polypeptide chains. These chains associate via a single disulfide bond to form the catalytically inactive high molecular weight urokinase-type plasminogen activator (HMW-uPA). HMW-uPA can be further processed into the catalytically active low molecular weight urokinase-type plasminogen activator (LMW-uPA). This low molecular weight form does not bind to the urokinase-type plasminogen activator receptor. Mutations in this gene may be associated with Quebec platelet disorder and late-onset Alzheimers disease. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
PLAUR	chr19	43646095	43670547	-	ENSG00000011422.11	protein_coding	CD87|U-PAR|UPAR|URKR	19q13.31	plasminogen activator, urokinase receptor	This gene encodes the receptor for urokinase plasminogen activator and, given its role in localizing and promoting plasmin formation, likely influences many normal and pathological processes related to cell-surface plasminogen activation and localized degradation of the extracellular matrix. It binds both the proprotein and mature forms of urokinase plasminogen activator and permits the activation of the receptor-bound pro-enzyme by plasmin. The protein lacks transmembrane or cytoplasmic domains and may be anchored to the plasma membrane by a glycosyl-phosphatidylinositol (GPI) moiety following cleavage of the nascent polypeptide near its carboxy-terminus. However, a soluble protein is also produced in some cell types. Alternative splicing results in multiple transcript variants encoding different isoforms. The proprotein experiences several post-translational cleavage reactions that have not yet been fully defined. [provided by RefSeq, Jul 2008]
PLB1	chr2	28457145	28643788	+	ENSG00000163803.12	protein_coding	PLB|PLB/LIP	2p23.2	phospholipase B1	This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition, it displays lipase and retinyl ester hydrolase activities. The encoded protein is highly conserved and is composed of a large, glycosylated extracellular domain composed of four tandem homologous domains, followed by a hydrophobic segment that anchors the enzyme to the membrane and a short C-terminal cytoplasmic tail. This gene has been identified as a candidate rheumatoid arthritis risk gene. [provided by RefSeq, Jul 2016]
PLBD1	chr12	14503661	14568349	-	ENSG00000121316.10	protein_coding	-	12p13.1	phospholipase B domain containing 1	-
PLCB1	chr20	8077251	8968360	+	ENSG00000182621.17	protein_coding	DEE12|EIEE12|PI-PLC|PLC-154|PLC-I|PLC-beta-1|PLC154|PLCB1A|PLCB1B	20p12.3	phospholipase C beta 1	The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PLCB2	chr15	40278176	40307935	-	ENSG00000137841.11	protein_coding	PLC-beta-2	15q15.1	phospholipase C beta 2	The protein encoded by this gene is a phosphodiesterase that catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate to the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol. The encoded protein is activated by G proteins and has been shown to be involved in the type 2 taste receptor signal transduction pathway. In addition, nuclear factor kappa B can regulate the transcription of this gene, whose protein product is also an important regulator of platelet responses. [provided by RefSeq, Jan 2017]
PLCB2-AS1	chr15	40300670	40301820	+	ENSG00000259307.1	antisense	-	15q15.1	PLCB2 antisense RNA 1	-
PLCB3	chr11	64251523	64269150	+	ENSG00000149782.11	protein_coding	SMDCD	11q13.1	phospholipase C beta 3	This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PLCB4	chr20	9068763	9481242	+	ENSG00000101333.16	protein_coding	ARCND2|PI-PLC	20p12.3-p12.2	phospholipase C beta 4	The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals in the retina. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2010]
PLCD1	chr3	38007496	38029762	-	ENSG00000187091.13	protein_coding	NDNC3|PLC-III	3p22.2	phospholipase C delta 1	This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PLCD3	chr17	45108967	45133354	-	ENSG00000161714.11	protein_coding	PLC-delta-3	17q21.31	phospholipase C delta 3	This gene encodes a member of the phospholipase C family, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate the second messengers diacylglycerol and inositol 1,4,5-trisphosphate (IP3). Diacylglycerol and IP3 mediate a variety of cellular responses to extracellular stimuli by inducing protein kinase C and increasing cytosolic Ca(2+) concentrations. This enzyme localizes to the plasma membrane and requires calcium for activation. Its activity is inhibited by spermine, sphingosine, and several phospholipids. [provided by RefSeq, Jul 2008]
PLCD4	chr2	218607765	218637184	+	ENSG00000115556.13	protein_coding	-	2q35	phospholipase C delta 4	Broad expression in esophagus (RPKM 2.6), testis (RPKM 2.2) and 23 other tissues
PLCE1	chr10	94030812	94332823	+	ENSG00000138193.15	protein_coding	NPHS3|PLCE|PPLC	10q23.33	phospholipase C epsilon 1	This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]
PLCE1-AS1	chr10	94279277	94287478	-	ENSG00000268894.6	antisense	-	10q23.33	PLCE1 antisense RNA 1	-
PLCG1	chr20	41136960	41196801	+	ENSG00000124181.14	protein_coding	NCKAP3|PLC-II|PLC1|PLC148|PLCgamma1	20q12	phospholipase C gamma 1	The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of receptor-mediated tyrosine kinase activators. For example, when activated by SRC, the encoded protein causes the Ras guanine nucleotide exchange factor RasGRP1 to translocate to the Golgi, where it activates Ras. Also, this protein has been shown to be a major substrate for heparin-binding growth factor 1 (acidic fibroblast growth factor)-activated tyrosine kinase. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PLCG1-AS1	chr20	41098329	41138003	-	ENSG00000226648.1	antisense	TOP1-AS1	20q12	PLCG1 antisense RNA 1	Ubiquitous expression in lymph node (RPKM 5.4), appendix (RPKM 4.8) and 25 other tissues
PLCG2	chr16	81739097	81962693	+	ENSG00000197943.9	protein_coding	APLAID|FCAS3|PLC-IV|PLC-gamma-2	16q23.3	phospholipase C gamma 2	The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]
PLCH1	chr3	155375580	155745067	-	ENSG00000114805.16	protein_coding	PLC eta 1|PLC-L3|PLCL3	3q25.31	phospholipase C eta 1	PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009]
PLCH2	chr1	2425980	2505530	+	ENSG00000149527.17	protein_coding	PLC-L4|PLC-eta2|PLCL4|PLCeta2	1p36.32	phospholipase C eta 2	PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009]
PLCL1	chr2	197804702	198572581	+	ENSG00000115896.15	protein_coding	PLCE|PLCL|PLDL1|PPP1R127|PRIP	2q33.1	phospholipase C like 1 (inactive)	Broad expression in kidney (RPKM 12.7), heart (RPKM 9.4) and 16 other tissues
PLCL2	chr3	16802651	17090594	+	ENSG00000154822.17	protein_coding	PLCE2	3p24.3	phospholipase C like 2	Ubiquitous expression in ovary (RPKM 4.0), lymph node (RPKM 3.4) and 23 other tissues
PLCXD3	chr5	41306954	41510628	-	ENSG00000182836.9	protein_coding	-	5p13.1	phosphatidylinositol specific phospholipase C X domain containing 3	-
PLD1	chr3	171600405	171810950	-	ENSG00000075651.15	protein_coding	CVDD	3q26.31	phospholipase D1	This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011]
PLD2	chr17	4807096	4823434	+	ENSG00000129219.13	protein_coding	PLD1C	17p13.2	phospholipase D2	The protein encoded by this gene catalyzes the hydrolysis of phosphatidylcholine to phosphatidic acid and choline. The activity of the encoded enzyme is enhanced by phosphatidylinositol 4,5-bisphosphate and ADP-ribosylation factor-1. This protein localizes to the peripheral membrane and may be involved in cytoskeletal organization, cell cycle control, transcriptional regulation, and/or regulated secretion. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]
PLD3	chr19	40348456	40380439	+	ENSG00000105223.19	protein_coding	AD19|HU-K4|HUK4|SCA46	19q13.2	phospholipase D family member 3	This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014]
PLD4	chr14	104924816	104937790	+	ENSG00000166428.12	protein_coding	C14orf175	14q32.33	phospholipase D family member 4	Biased expression in skin (RPKM 31.7), spleen (RPKM 4.6) and 9 other tissues
PLD6	chr17	17200995	17206315	-	ENSG00000179598.5	protein_coding	ZUC	17p11.2	phospholipase D family member 6	Broad expression in testis (RPKM 12.6), prostate (RPKM 3.8) and 25 other tissues
PLEC	chr8	143915147	143976734	-	ENSG00000178209.14	protein_coding	EBS1|EBSMD|EBSND|EBSO|EBSOG|EBSPA|HD1|LGMD2Q|LGMDR17|PCN|PLEC1|PLEC1b|PLTN	8q24.3	plectin	Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547, 11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as hemidesmosomal protein 1 or plectin 1, intermediate filament binding 500kDa. These names were superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5 transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectins highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5 exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). The short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the other alternative first exons, in which case the position in the respective Reference Sequence should be used. [provided by RefSeq, Aug 2011]
PLEK	chr2	68365173	68397453	+	ENSG00000115956.9	protein_coding	P47	2p14	pleckstrin	Biased expression in bone marrow (RPKM 230.3), lymph node (RPKM 68.5) and 6 other tissues
PLEK2	chr14	67386983	67412200	-	ENSG00000100558.8	protein_coding	-	14q23.3-q24.1	pleckstrin 2	Broad expression in adrenal (RPKM 16.6), small intestine (RPKM 14.3) and 17 other tissues
PLEKHA1	chr10	122374696	122442602	+	ENSG00000107679.14	protein_coding	TAPP1	10q26.13	pleckstrin homology domain containing A1	This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]
PLEKHA2	chr8	38901235	38973909	+	ENSG00000169499.14	protein_coding	TAPP2	8p11.22	pleckstrin homology domain containing A2	Broad expression in lymph node (RPKM 32.5), spleen (RPKM 19.2) and 23 other tissues
PLEKHA3	chr2	178480468	178516462	+	ENSG00000116095.10	protein_coding	FAPP1	2q31.2	pleckstrin homology domain containing A3	Ubiquitous expression in testis (RPKM 2.6), adrenal (RPKM 2.0) and 25 other tissues
PLEKHA3P1	chr19	41521043	41521989	-	ENSG00000269800.1	processed_pseudogene	PLEKHA3P	19q13.2	pleckstrin homology domain containing A3 pseudogene 1	-
PLEKHA4	chr19	48837097	48868632	-	ENSG00000105559.11	protein_coding	PEPP1	19q13.33	pleckstrin homology domain containing A4	This gene encodes a pleckstrin homology (PH) domain-containing protein. The PH domain is found near the N-terminus and contains a putative phosphatidylinositol 3, 4, 5-triphosphate-binding motif (PPBM). Elevated expression of this gene has been observed in some melanomas. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]
PLEKHA5	chr12	19129752	19376400	+	ENSG00000052126.14	protein_coding	PEPP-2|PEPP2	12p12.3	pleckstrin homology domain containing A5	Ubiquitous expression in kidney (RPKM 6.7), ovary (RPKM 5.6) and 24 other tissues
PLEKHA6	chr1	204218851	204377665	-	ENSG00000143850.13	protein_coding	PEPP-3|PEPP3	1q32.1	pleckstrin homology domain containing A6	Broad expression in stomach (RPKM 5.9), kidney (RPKM 5.6) and 22 other tissues
PLEKHA7	chr11	16777317	17014443	-	ENSG00000166689.15	protein_coding	-	11p15.2-p15.1	pleckstrin homology domain containing A7	-
PLEKHA8	chr7	30027404	30130483	+	ENSG00000106086.18	protein_coding	FAPP2	7p14.3	pleckstrin homology domain containing A8	Ubiquitous expression in placenta (RPKM 2.2), testis (RPKM 1.3) and 25 other tissues
PLEKHB2	chr2	131104847	131353709	+	ENSG00000115762.16	protein_coding	EVT2	2q21.1	pleckstrin homology domain containing B2	Ubiquitous expression in kidney (RPKM 52.2), brain (RPKM 41.1) and 24 other tissues
PLEKHD1	chr14	69484692	69531551	+	ENSG00000175985.9	protein_coding	UPF0639	14q24.1	pleckstrin homology and coiled-coil domain containing D1	Low expression observed in reference dataset
PLEKHF1	chr19	29665056	29675457	+	ENSG00000166289.5	protein_coding	APPD|LAPF|PHAFIN1|ZFYVE15	19q12	pleckstrin homology and FYVE domain containing 1	Enables phosphatidylinositol-3-phosphate binding activity; phosphatidylinositol-4-phosphate binding activity; and phosphatidylinositol-5-phosphate binding activity. Involved in endosome organization; positive regulation of autophagy; and protein localization to plasma membrane. Located in lysosome. Colocalizes with endosome. [provided by Alliance of Genome Resources, Apr 2022]
PLEKHF2	chr8	95133804	95156684	+	ENSG00000175895.3	protein_coding	EAPF|PHAFIN2|ZFYVE18	8q22.1	pleckstrin homology and FYVE domain containing 2	Broad expression in bone marrow (RPKM 31.1), lymph node (RPKM 29.6) and 24 other tissues
PLEKHG1	chr6	150599883	150843665	+	ENSG00000120278.15	protein_coding	ARHGEF41	6q25.1	pleckstrin homology and RhoGEF domain containing G1	Broad expression in spleen (RPKM 8.2), lymph node (RPKM 3.6) and 21 other tissues
PLEKHG2	chr19	39412585	39428415	+	ENSG00000090924.14	protein_coding	ARHGEF42|CLG|CTB-60E11.4|LDAMD	19q13.2	pleckstrin homology and RhoGEF domain containing G2	The protein encoded by this gene is a RhoGTPase that can activate CDC42 by promoting exchange of GDP for GTP on CDC42. The encoded protein is activated by binding to the beta and gamma subunits of heterotrimeric guanine nucleotide-binding protein. Defects in this gene have been associated with leukodystrophy and acquired microcephaly with or without dystonia. [provided by RefSeq, May 2017]
PLEKHG3	chr14	64704102	64750247	+	ENSG00000126822.16	protein_coding	ARHGEF43|KIAA0599	14q23.3	pleckstrin homology and RhoGEF domain containing G3	Ubiquitous expression in endometrium (RPKM 8.9), kidney (RPKM 8.6) and 25 other tissues
PLEKHG4	chr16	67277510	67289499	+	ENSG00000196155.12	protein_coding	ARHGEF44|PRTPHN1|SCA4	16q22.1	pleckstrin homology and RhoGEF domain containing G4	The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PLEKHG4B	chr5	92151	189972	+	ENSG00000153404.14	protein_coding	-	5p15.33	pleckstrin homology and RhoGEF domain containing G4B	Biased expression in thyroid (RPKM 1.2), testis (RPKM 0.6) and 8 other tissues
PLEKHG5	chr1	6466092	6520061	-	ENSG00000171680.21	protein_coding	CMTRIC|DSMA4|GEF720|Syx|Tech	1p36.31	pleckstrin homology and RhoGEF domain containing G5	This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PLEKHG6	chr12	6310436	6328506	+	ENSG00000008323.15	protein_coding	MyoGEF	12p13.31	pleckstrin homology and RhoGEF domain containing G6	Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Located in cell junction and centrosome. [provided by Alliance of Genome Resources, Apr 2022]
PLEKHH1	chr14	67533301	67589612	+	ENSG00000054690.13	protein_coding	-	14q24.1	pleckstrin homology, MyTH4 and FERM domain containing H1	-
PLEKHH2	chr2	43637273	43767987	+	ENSG00000152527.13	protein_coding	PLEKHH1L	2p21	pleckstrin homology, MyTH4 and FERM domain containing H2	Broad expression in lung (RPKM 15.4), endometrium (RPKM 10.8) and 21 other tissues
PLEKHH3	chr17	42667914	42676994	-	ENSG00000068137.14	protein_coding	-	17q21.2	pleckstrin homology, MyTH4 and FERM domain containing H3	-
PLEKHJ1	chr19	2230084	2237704	-	ENSG00000104886.11	protein_coding	GNRPX	19p13.3	pleckstrin homology domain containing J1	Ubiquitous expression in duodenum (RPKM 22.0), small intestine (RPKM 18.6) and 25 other tissues
PLEKHM1	chr17	45435900	45490749	-	ENSG00000225190.10	protein_coding	AP162|B2|OPTA3|OPTB6	17q21.31	pleckstrin homology and RUN domain containing M1	The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
PLEKHM1P1	chr17	64779259	64837154	-	ENSG00000214176.9	transcribed_unprocessed_pseudogene	PLEKHM1P	17q24.1	pleckstrin homology and RUN domain containing M1 pseudogene 1	Ubiquitous expression in bone marrow (RPKM 24.7), skin (RPKM 11.0) and 24 other tissues
PLEKHM2	chr1	15684332	15734769	+	ENSG00000116786.11	protein_coding	SKIP	1p36.21	pleckstrin homology and RUN domain containing M2	This gene encodes a protein that binds the plus-end directed microtubule motor protein kinesin, together with the lysosomal GTPase Arl8, and is required for lysosomes to distribute away from the microtubule-organizing center. The encoded protein belongs to the multisubunit BLOC-one-related complex that regulates lysosome positioning. It binds a Salmonella effector protein called Salmonella induced filament A and is a critical host determinant in Salmonella pathogenesis. It has a domain architecture consisting of an N-terminal RPIP8, UNC-14, and NESCA (RUN) domain that binds kinesin-1 as well as the lysosomal GTPase Arl8, and a C-terminal pleckstrin homology domain that binds the Salmonella induced filament A effector protein. Naturally occurring mutations in this gene lead to abnormal localization of lysosomes, impaired autophagy flux and are associated with recessive dilated cardiomyopathy and left ventricular noncompaction. [provided by RefSeq, Feb 2017]
PLEKHM3	chr2	207821288	208025560	-	ENSG00000178385.14	protein_coding	DAPR|PLEKHM1L	2q33.3	pleckstrin homology domain containing M3	Ubiquitous expression in brain (RPKM 3.2), thyroid (RPKM 2.8) and 25 other tissues
PLEKHN1	chr1	966497	975865	+	ENSG00000187583.10	protein_coding	CLPABP	1p36.33	pleckstrin homology domain containing N1	Biased expression in skin (RPKM 9.8), esophagus (RPKM 3.7) and 3 other tissues
PLEKHO1	chr1	150149183	150164720	+	ENSG00000023902.13	protein_coding	CKIP-1|CKIP1|JBP|OC120	1q21.2	pleckstrin homology domain containing O1	Broad expression in testis (RPKM 30.7), appendix (RPKM 29.1) and 24 other tissues
PLEKHO2	chr15	64841883	64868007	+	ENSG00000241839.9	protein_coding	PLEKHQ1|PP1628|pp9099	15q22.31	pleckstrin homology domain containing O2	Broad expression in spleen (RPKM 55.3), bone marrow (RPKM 20.9) and 23 other tissues
PLEKHS1	chr10	113751454	113783429	+	ENSG00000148735.14	protein_coding	C10orf81|HEL185	10q25.3	pleckstrin homology domain containing S1	Biased expression in duodenum (RPKM 10.1), small intestine (RPKM 9.0) and 9 other tissues
PLET1	chr11	112248479	112260860	-	ENSG00000188771.4	protein_coding	C11orf34	11q23.1	placenta expressed transcript 1	Low expression observed in reference dataset
PLG	chr6	160702238	160753315	+	ENSG00000122194.18	protein_coding	HAE4	6q26	plasminogen	The plasminogen protein encoded by this gene is a serine protease that circulates in blood plasma as an inactive zymogen and is converted to the active protease, plasmin, by several plasminogen activators such as tissue plasminogen activator (tPA), urokinase plasminogen activator (uPA), kallikrein, and factor XII (Hageman factor). The conversion of plasminogen to plasmin involves the cleavage of the peptide bond between Arg-561 and Val-562. Plasmin cleavage also releases the angiostatin protein which inhibits angiogenesis. Plasmin degrades many blood plasma proteins, including fibrin-containing blood clots. As a serine protease, plasmin cleaves many products in addition to fibrin such as fibronectin, thrombospondin, laminin, and von Willebrand factor. Plasmin is inactivated by proteins such as alpha-2-macroglobulin and alpha-2-antiplasmin in addition to inhibitors of the various plasminogen activators. Plasminogen also interacts with plasminogen receptors which results in the retention of plasmin on cell surfaces and in plasmin-induced cell signaling. The localization of plasminogen on cell surfaces plays a role in the degradation of extracellular matrices, cell migration, inflamation, wound healing, oncogenesis, metastasis, myogenesis, muscle regeneration, neurite outgrowth, and fibrinolysis. This protein may also play a role in acute respiratory distress syndrome (ARDS) which, in part, is caused by enhanced clot formation and the suppression of fibrinolysis. Compared to other mammals, the cluster of plasminogen-like genes to which this gene belongs has been rearranged in catarrhine primates. [provided by RefSeq, May 2020]
PLGLB1	chr2	87002559	87021852	-	ENSG00000183281.14	protein_coding	PLGL|PLGP1|PRGB|PRP-B	2p11.2	plasminogen like B1	Biased expression in liver (RPKM 64.1) and skin (RPKM 1.9)
PLGRKT	chr9	5357973	5437878	-	ENSG00000107020.9	protein_coding	AD025|C9orf46|MDS030|PLG-RKT|Plg-R(KT)	9p24.1	plasminogen receptor with a C-terminal lysine	Ubiquitous expression in colon (RPKM 12.9), duodenum (RPKM 11.8) and 24 other tissues
PLIN1	chr15	89664365	89679427	-	ENSG00000166819.11	protein_coding	FPLD4|PERI|PLIN	15q26.1	perilipin 1	The protein encoded by this gene coats lipid storage droplets in adipocytes, thereby protecting them until they can be broken down by hormone-sensitive lipase. The encoded protein is the major cAMP-dependent protein kinase substrate in adipocytes and, when unphosphorylated, may play a role in the inhibition of lipolysis. Alternatively spliced transcript variants varying in the 5 UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Feb 2009]
PLIN2	chr9	19108375	19149290	-	ENSG00000147872.9	protein_coding	ADFP|ADRP	9p22.1	perilipin 2	The protein encoded by this gene belongs to the perilipin family, members of which coat intracellular lipid storage droplets. This protein is associated with the lipid globule surface membrane material, and maybe involved in development and maintenance of adipose tissue. However, it is not restricted to adipocytes as previously thought, but is found in a wide range of cultured cell lines, including fibroblasts, endothelial and epithelial cells, and tissues, such as lactating mammary gland, adrenal cortex, Sertoli and Leydig cells, and hepatocytes in alcoholic liver cirrhosis, suggesting that it may serve as a marker of lipid accumulation in diverse cell types and diseases. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011]
PLIN3	chr19	4838341	4867768	-	ENSG00000105355.8	protein_coding	M6PRBP1|PP17|TIP47	19p13.3	perilipin 3	Mannose 6-phophate receptors (MPRs) deliver lysosomal hydrolase from the Golgi to endosomes and then return to the Golgi complex. The protein encoded by this gene interacts with the cytoplasmic domains of both cation-independent and cation-dependent MPRs, and is required for endosome-to-Golgi transport. This protein also binds directly to the GTPase RAB9 (RAB9A), a member of the RAS oncogene family. The interaction with RAB9 has been shown to increase the affinity of this protein for its cargo. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2009]
PLIN4	chr19	4502180	4518465	-	ENSG00000167676.4	protein_coding	KIAA1881|S3-12	19p13.3	perilipin 4	Members of the perilipin family, such as PLIN4, coat intracellular lipid storage droplets (Wolins et al., 2003 [PubMed 12840023]).[supplied by OMIM, Feb 2010]
PLIN5	chr19	4522531	4535224	-	ENSG00000214456.8	protein_coding	LSDA5|LSDP5|MLDP|OXPAT	19p13.3	perilipin 5	Members of the perilipin family, such as PLIN5, coat intracellular lipid storage droplets and protect them from lipolytic degradation (Dalen et al., 2007 [PubMed 17234449]).[supplied by OMIM, Feb 2010]
PLK5	chr19	1524074	1535456	+	ENSG00000185988.11	protein_coding	PLK-5|PLK5P|SgK384ps	19p13.3	polo like kinase 5 (inactive)	Biased expression in testis (RPKM 2.5), endometrium (RPKM 1.6) and 3 other tissues
PLLP	chr16	57248547	57284687	-	ENSG00000102934.9	protein_coding	PMLP|TM4SF11	16q13	plasmolipin	Broad expression in brain (RPKM 41.3), stomach (RPKM 28.7) and 17 other tissues
PLN	chr6	118548298	118560730	+	ENSG00000198523.5	protein_coding	CMD1P|CMH18|PLB	6q22.31	phospholamban	The protein encoded by this gene is found as a pentamer and is a major substrate for the cAMP-dependent protein kinase in cardiac muscle. The encoded protein is an inhibitor of cardiac muscle sarcoplasmic reticulum Ca(2+)-ATPase in the unphosphorylated state, but inhibition is relieved upon phosphorylation of the protein. The subsequent activation of the Ca(2+) pump leads to enhanced muscle relaxation rates, thereby contributing to the inotropic response elicited in heart by beta-agonists. The encoded protein is a key regulator of cardiac diastolic function. Mutations in this gene are a cause of inherited human dilated cardiomyopathy with refractory congestive heart failure, and also familial hypertrophic cardiomyopathy. [provided by RefSeq, Apr 2016]
PLOD1	chr1	11934205	11975538	+	ENSG00000083444.16	protein_coding	EDS6|EDSKCL1|LH|LH1|LLH|PLOD	1p36.22	procollagen-lysine,2-oxoglutarate 5-dioxygenase 1	Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PLOD2	chr3	146069440	146163653	-	ENSG00000152952.11	protein_coding	BRKS2|LH2|TLH	3q24	procollagen-lysine,2-oxoglutarate 5-dioxygenase 2	The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. Mutations in the coding region of this gene are associated with Bruck syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PLOD3	chr7	101205977	101218420	-	ENSG00000106397.11	protein_coding	LH3	7q22.1	procollagen-lysine,2-oxoglutarate 5-dioxygenase 3	The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008]
PLPBP	chr8	 37762546	37779768	+	ENSG00000147471	protein-coding	EPVB6D|PROSC	8p11.23	pyridoxal phosphate binding protein	This gene encodes a pyridoxal 5-phosphate binding protein involved in the homeostatic regulation of intracellular pyridoxal 5-phosphate. This gene has a tumor suppressive effect on hepatocellular carcinoma and other solid tumors of epithelial origin. Naturally occurring mutations in this gene are associated with a pyridoxine-dependent epilepsy. [provided by RefSeq, Mar 2017]
PLPP1	chr5	55424854	55535050	-	ENSG00000067113.16	protein_coding	LLP1a|LPP1|PAP-2a|PAP2|PPAP2A	5q11.2	phospholipid phosphatase 1	The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in synthesis of glycerolipids and in phospholipase D-mediated signal transduction. This enzyme is an integral membrane glycoprotein that plays a role in the hydrolysis and uptake of lipids from extracellular space. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
PLPP2	chr19	281040	291504	-	ENSG00000141934.9	protein_coding	LPP2|PAP-2c|PAP2-g|PPAP2C	19p13.3	phospholipid phosphatase 2	The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is similar to phosphatidic acid phosphatase type 2A (PPAP2A) and type 2B (PPAP2B). All three proteins contain 6 transmembrane regions, and a consensus N-glycosylation site. This protein has been shown to possess membrane associated PAP activity. Three alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PLPP3	chr1	56494747	56645301	-	ENSG00000162407.8	protein_coding	Dri42|LPP3|PAP2B|PPAP2B|VCIP	1p32.2	phospholipid phosphatase 3	The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is a membrane glycoprotein localized at the cell plasma membrane. It has been shown to actively hydrolyze extracellular lysophosphatidic acid and short-chain phosphatidic acid. The expression of this gene is found to be enhanced by epidermal growth factor in Hela cells. [provided by RefSeq, Mar 2010]
PLPP4	chr10	120456954	120589855	+	ENSG00000203805.10	protein_coding	DPPL2|PPAPDC1|PPAPDC1A	10q26.12	phospholipid phosphatase 4	Enables diacylglycerol diphosphate phosphatase activity; identical protein binding activity; and phosphatidate phosphatase activity. Involved in phospholipid dephosphorylation and regulation of calcium ion import. Predicted to be located in plasma membrane. Biomarker of breast cancer. [provided by Alliance of Genome Resources, Apr 2022]
PLPP5	chr8	38263130	38269243	-	ENSG00000147535.16	protein_coding	DPPL1|HTPAP|PPAPDC1B	8p11.23	phospholipid phosphatase 5	Ubiquitous expression in prostate (RPKM 24.6), duodenum (RPKM 12.1) and 25 other tissues
PLPP6	chr9	4662315	4665258	+	ENSG00000205808.5	protein_coding	PDP1|PPAPDC2|PSDP|bA6J24.6	9p24.1	phospholipid phosphatase 6	-
PLPP7	chr9	131289694	131309262	+	ENSG00000160539.4	protein_coding	C9orf67|NET39|PPAPDC3	9q34.13	phospholipid phosphatase 7 (inactive)	Biased expression in heart (RPKM 14.9), brain (RPKM 2.9) and 9 other tissues
PLPPR2	chr19	11355386	11365698	+	ENSG00000105520.10	protein_coding	LPPR2|PRG4	19p13.2	phospholipid phosphatase related 2	Ubiquitous expression in brain (RPKM 26.0), prostate (RPKM 12.8) and 25 other tissues
PLPPR3	chr19	812488	821977	-	ENSG00000129951.18	protein_coding	LPPR3|LPR3|PRG-2|PRG2	19p13.3	phospholipid phosphatase related 3	The proteins in the lipid phosphate phosphatase (LPP) family, including PRG2, are integral membrane proteins that modulate bioactive lipid phosphates including phosphatidate, lysophosphatidate, and sphingosine-1-phosphate in the context of cell migration, neurite retraction, and mitogenesis (Brauer et al., 2003 [PubMed 12730698]).[supplied by OMIM, Mar 2008]
PLPPR4	chr1	99263953	99309590	+	ENSG00000117600.12	protein_coding	LPPR4|LPR4|PHP1|PRG-1|PRG1	1p21.3-p21.2	phospholipid phosphatase related 4	The protein encoded by this gene belongs to the lipid phosphate phosphatase (LPP) family. LPPs catalyze the dephosphorylation of a number of bioactive lipid mediators that regulate a variety of cell functions. This protein is specifically expressed in neurons. It is located in the membranes of outgrowing axons and has been shown to be important for axonal outgrowth during development and regenerative sprouting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
PLPPR5	chr1	98890245	99005032	-	ENSG00000117598.11	protein_coding	LPPR5|PAP2|PAP2D|PRG5	1p21.3	phospholipid phosphatase related 5	The protein encoded by this gene is a type 2 member of the phosphatidic acid phosphatase (PAP) family. All type 2 members of this protein family contain 6 transmembrane regions, and a consensus N-glycosylation site. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PLRG1	chr4	154535006	154550435	-	ENSG00000171566.11	protein_coding	Cwc1|PRL1|PRP46|PRPF46|TANGO4	4q31.3	pleiotropic regulator 1	This gene encodes a core component of the cell division cycle 5-like (CDC5L) complex. The CDC5L complex is part of the spliceosome and is required for pre-mRNA splicing. The encoded protein plays a critical role in alternative splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
PLS1	chr3	142596387	142713664	+	ENSG00000120756.12	protein_coding	DFNA76	3q23	plastin 1	Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. The protein encoded by this gene is a third distinct plastin isoform, which is specifically expressed at high levels in the small intestine. Alternatively spliced transcript variants varying in the 5 UTR, but encoding the same protein, have been found for this gene. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Feb 2010]
PLSCR1	chr3	146515180	146544864	-	ENSG00000188313.12	protein_coding	MMTRA1B	3q24	phospholipid scramblase 1	Ubiquitous expression in appendix (RPKM 43.5), gall bladder (RPKM 33.7) and 25 other tissues
PLSCR3	chr17	7389727	7394843	-	ENSG00000187838.16	protein_coding	-	17p13.1	phospholipid scramblase 3	-
PLSCR4	chr3	146192339	146251179	-	ENSG00000114698.14	protein_coding	TRA1	3q24	phospholipid scramblase 4	Ubiquitous expression in fat (RPKM 22.0), gall bladder (RPKM 21.1) and 24 other tissues
PLTP	chr20	45898621	45912155	-	ENSG00000100979.14	protein_coding	BPIFE|HDLCQ9	20q13.12	phospholipid transfer protein	The protein encoded by this gene is one of at least two lipid transfer proteins found in human plasma. The encoded protein transfers phospholipids from triglyceride-rich lipoproteins to high density lipoprotein (HDL). In addition to regulating the size of HDL particles, this protein may be involved in cholesterol metabolism. At least two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PLVAP	chr19	17351448	17377350	-	ENSG00000130300.8	protein_coding	DIAR10|FELS|PV-1|PV1|gp68	19p13.11	plasmalemma vesicle associated protein	Broad expression in thyroid (RPKM 131.8), spleen (RPKM 92.7) and 20 other tissues
PLXDC1	chr17	39063303	39154394	-	ENSG00000161381.13	protein_coding	TEM3|TEM7	17q12	plexin domain containing 1	Ubiquitous expression in gall bladder (RPKM 7.4), endometrium (RPKM 6.4) and 23 other tissues
PLXNA1	chr3	126988594	127037392	+	ENSG00000114554.11	protein_coding	NOV|NOVP|PLEXIN-A1|PLXN1	3q21.3	plexin A1	Predicted to enable semaphorin receptor activity. Predicted to be involved in several processes, including generation of neurons; regulation of GTPase activity; and regulation of cell shape. Predicted to act upstream of or within dichotomous subdivision of terminal units involved in salivary gland branching; neuron projection morphogenesis; and regulation of smooth muscle cell migration. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
PLXNA2	chr1	208022242	208244320	-	ENSG00000076356.6	protein_coding	OCT|PLXN2	1q32.2	plexin A2	This gene encodes a member of the plexin-A family of semaphorin co-receptors. Semaphorins are a large family of secreted or membrane-bound proteins that mediate repulsive effects on axon pathfinding during nervous system development. A subset of semaphorins are recognized by plexin-A/neuropilin transmembrane receptor complexes, triggering a cellular signal transduction cascade that leads to axon repulsion. This plexin-A family member is thought to transduce signals from semaphorin-3A and -3C. [provided by RefSeq, Jul 2008]
PLXNB1	chr3	48403854	48430051	-	ENSG00000164050.12	protein_coding	PLEXIN-B1|PLXN5|SEP	3p21.31	plexin B1	Ubiquitous expression in skin (RPKM 13.8), kidney (RPKM 13.0) and 24 other tissues
PLXNB2	chr22	50274979	50307627	-	ENSG00000196576.14	protein_coding	MM1|Nbla00445|PLEXB2|dJ402G11.3	22q13.33	plexin B2	Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[supplied by OMIM, Mar 2008]
PLXNC1	chr12	94148723	94307675	+	ENSG00000136040.8	protein_coding	CD232|PLXN-C1|VESPR	12q22	plexin C1	This gene encodes a member of the plexin family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate melanocyte adhesion, and viral semaphorins may modulate the immune response by binding to this receptor. The encoded protein may be a tumor suppressor protein for melanoma. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011]
PLXND1	chr3	129555175	129606818	-	ENSG00000004399.12	protein_coding	PLEXD1	3q22.1	plexin D1	Broad expression in placenta (RPKM 37.7), fat (RPKM 32.1) and 23 other tissues
PM20D1	chr1	205828022	205850132	-	ENSG00000162877.12	protein_coding	Cps1	1q32.1	peptidase M20 domain containing 1	Biased expression in pancreas (RPKM 10.8), urinary bladder (RPKM 2.6) and 3 other tissues
PM20D2	chr6	89146050	89165565	+	ENSG00000146281.5	protein_coding	ACY1L2	6q15	peptidase M20 domain containing 2	Ubiquitous expression in prostate (RPKM 11.9), ovary (RPKM 8.1) and 25 other tissues
PMAIP1	chr18	59899948	59904306	+	ENSG00000141682.11	protein_coding	APR|NOXA	18q21.32	phorbol-12-myristate-13-acetate-induced protein 1	This gene belongs to a pro-apoptotic subfamily within the BCL-2 protein family, referred to as the BCL-2 homology domain 3 (BH3)-only subfamily, which determine whether a cell commits to apoptosis. In response to death-inducing stimuli, BH3-only members inhibit the anti-apoptotic BCL-2 family members, which under steady-state conditions keep the multi-BH domain proteins BAX and BAK, in an inactive state. [provided by RefSeq, Aug 2020]
PMCH	chr12	102196459	102197845	-	ENSG00000183395.4	protein_coding	MCH|ppMCH	12q23.2	pro-melanin concentrating hormone	This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include melanin-concentrating hormone (MCH), neuropeptide-glutamic acid-isoleucine (NEI), and neuropeptide-glycine-glutamic acid (NGE). Melanin-concentrating hormone is a 19-amino acid neuropeptide that stimulates hunger and may additionally regulate energy homeostasis, reproductive function, and sleep. Pseudogenes of this gene have been identified on chromosome 5. [provided by RefSeq, Jul 2015]
PMCHL2	chr5	71375786	71385993	+	ENSG00000169040.14	transcribed_unprocessed_pseudogene	-	5q13.2	pro-melanin concentrating hormone like 2 (pseudogene)	-
PMEL	chr12	55954105	55973317	-	ENSG00000185664.14	protein_coding	D12S53E|HMB-45|ME20|ME20-M|ME20M|P1|P100|PMEL17|SI|SIL|SILV|gp100	12q13.2	premelanosome protein	This gene encodes a melanocyte-specific type I transmembrane glycoprotein. The encoded protein is enriched in melanosomes, which are the melanin-producing organelles in melanocytes, and plays an essential role in the structural organization of premelanosomes. This protein is involved in generating internal matrix fibers that define the transition from Stage I to Stage II melanosomes. This protein undergoes a complex pattern of prosttranslational processing and modification that is essential to the proper functioning of the protein. A secreted form of this protein that is released by proteolytic ectodomain shedding may be used as a melanoma-specific serum marker. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]
PMF1	chr1	156212993	156240042	+	ENSG00000160783.19	protein_coding	-	1q22	polyamine modulated factor 1	-
PMFBP1	chr16	72112157	72176878	-	ENSG00000118557.15	protein_coding	SPGF31|STAP	16q22.2	polyamine modulated factor 1 binding protein 1	Biased expression in testis (RPKM 6.6), small intestine (RPKM 0.5) and 2 other tissues
PML	chr15	73994673	74047812	+	ENSG00000140464.19	protein_coding	MYL|PP8675|RNF71|TRIM19	15q24.1	PML nuclear body scaffold	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the proteins central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PMM1	chr22	41576894	41589890	-	ENSG00000100417.11	protein_coding	PMM 1|PMMH-22|Sec53	22q13.2	phosphomannomutase 1	Phosphomannomutase catalyzes the conversion between D-mannose 6-phosphate and D-mannose 1-phosphate which is a substrate for GDP-mannose synthesis. GDP-mannose is used for synthesis of dolichol-phosphate-mannose, which is essential for N-linked glycosylation and thus the secretion of several glycoproteins as well as for the synthesis of glycosyl-phosphatidyl-inositol (GPI) anchored proteins. [provided by RefSeq, Jul 2008]
PMM2	chr16	8788823	8849331	+	ENSG00000140650.11	protein_coding	CDG1|CDG1a|CDGS|PMI|PMI1|PMM 2	16p13.2	phosphomannomutase 2	The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]
PMPCA	chr9	136410570	136423761	+	ENSG00000165688.11	protein_coding	Alpha-MPP|CLA1|CPD3|INPP5E|MAS2|P-55|SCAR2	9q34.3	peptidase, mitochondrial processing subunit alpha	The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2. [provided by RefSeq, Mar 2016]
PMPCB	chr7	103297422	103329511	+	ENSG00000105819.13	protein_coding	Beta-MPP|MAS1|MPP11|MPPB|MPPP52|P-52	7q22.1	peptidase, mitochondrial processing subunit beta	This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex. [provided by RefSeq, Jul 2008]
PMS1	chr2	189784085	189877629	+	ENSG00000064933.17	protein_coding	HNPCC3|MLH2|PMSL1|hPMS1	2q32.2	PMS1 homolog 1, mismatch repair system component	This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]
PMS2	chr7	5973239	6009125	-	ENSG00000122512.14	protein_coding	HNPCC4|MLH4|MMRCS4|PMS2CL|PMSL2	7p22.1	PMS1 homolog 2, mismatch repair system component	The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016]
PMS2CL	chr7	6710128	6753862	+	ENSG00000187953.10	transcribed_unprocessed_pseudogene	PMS2P13	7p22.1	PMS2 C-terminal like pseudogene	Ubiquitous expression in testis (RPKM 8.4), brain (RPKM 7.3) and 25 other tissues
PMS2P1	chr7	100320992	100341908	-	ENSG00000078319.9	unprocessed_pseudogene	PMS2L1|PMS2L13|PMS2L6|PMS2L7|PMS2L8|PMS3|PMS8|PMSR1|PMSR2	7q22.1	PMS1 homolog 2, mismatch repair system component pseudogene 1	Ubiquitous expression in lymph node (RPKM 11.1), testis (RPKM 10.2) and 25 other tissues
PMS2P10	chr7	75288120	75299795	-	ENSG00000276840.1	unprocessed_pseudogene	PMS2L10|PMSR4	7q11.23	PMS1 homolog 2, mismatch repair system component pseudogene 10	-
PMS2P11	chr7	77011551	77015853	+	ENSG00000241350.1	transcribed_unprocessed_pseudogene	PMS2L11|PMSR6	7q11.23	PMS1 homolog 2, mismatch repair system component pseudogene 11	Predicted to enable kinase activity. Predicted to be involved in mismatch repair. Predicted to be part of mismatch repair complex. [provided by Alliance of Genome Resources, Apr 2022]
PMS2P2	chr7	75344015	75359550	-	ENSG00000278416.1	unprocessed_pseudogene	PMS2L2|PMS4	7q11.23	PMS1 homolog 2, mismatch repair system component pseudogene 2	-
PMS2P3	chr7	75502930	75528148	-	ENSG00000127957.17	transcribed_unprocessed_pseudogene	PMS2L3|PMS2L9|PMS5|PMSR3	7q11.23	PMS1 homolog 2, mismatch repair system component pseudogene 3	Ubiquitous expression in spleen (RPKM 4.3), testis (RPKM 4.0) and 25 other tissues
PMS2P4	chr7	67295608	67302907	-	ENSG00000067601.7	transcribed_unprocessed_pseudogene	PMS2L4|PMS6	7q11.21	PMS1 homolog 2, mismatch repair system component pseudogene 4	Ubiquitous expression in kidney (RPKM 5.0), thyroid (RPKM 4.0) and 24 other tissues
PMS2P5	chr7	74894116	74897835	+	ENSG00000123965.13	unprocessed_pseudogene	PMS2L5|PMS7	7q11.23	PMS1 homolog 2, mismatch repair system component pseudogene 5	-
PMS2P9	chr7	77039944	77043776	+	ENSG00000233448.2	transcribed_unprocessed_pseudogene	PMS2L17|PMS2LP1|PMSR5	7q11.23	PMS1 homolog 2, mismatch repair system component pseudogene 9	-
PMVK	chr1	154924734	154936991	-	ENSG00000163344.5	protein_coding	HUMPMKI|PMK|PMKA|PMKASE|POROK1	1q21.3	phosphomevalonate kinase	This gene encodes a peroxisomal enzyme that is a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP) family of ATP-dependent enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, which is the fifth step in the mevalonate pathway of isoprenoid biosynthesis. Mutations in this gene are linked to certain types of porokeratosis including disseminated superficial porokeratosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
PNISR	chr6	99398051	99425331	-	ENSG00000132424.14	protein_coding	C6orf111|HSPC306|SFRS18|SRrp130|bA98I9.2	6q16.2	PNN interacting serine and arginine rich protein	Ubiquitous expression in lymph node (RPKM 25.8), spleen (RPKM 24.5) and 25 other tissues
PNKD	chr2	218270392	218346793	+	ENSG00000127838.13	protein_coding	BRP17|DYT8|FKSG19|FPD1|KIPP1184|MR-1|MR-1S|MR1|PDC|PKND1|PNKD1|R1|TAHCCP2	2q35	PNKD metallo-beta-lactamase domain containing	This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PNKP	chr19	49859882	49878351	-	ENSG00000039650.11	protein_coding	AOA4|CMT2B2|EIEE10|MCSZ|PNK	19q13.33	polynucleotide kinase 3'-phosphatase	This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5 phosphorylation and 3 dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.[provided by RefSeq, Sep 2010]
PNLDC1	chr6	159800249	159820704	+	ENSG00000146453.12	protein_coding	HsPNLDC1|SPGF57|Trimmer	6q25.3	PARN like ribonuclease domain containing exonuclease 1	Restricted expression toward testis (RPKM 4.8)
PNMA1	chr14	73711783	73714372	-	ENSG00000176903.4	protein_coding	MA1	14q24.3	PNMA family member 1	This gene encodes a neuron- and testis-specific protein that is also expressed in some paraneoplastic syndromes affecting the nervous system. Some patients with neurologic disorders develop antibodies against the protein encoded by this gene. The identification of the antineuronal antibodies in the sera of these patients has facilitated the diagnosis of paraneoplastic neurological disorders and the early detection of the associated tumors. [provided by RefSeq, Feb 2014]
PNMA2	chr8	26504686	26514092	-	ENSG00000240694.8	protein_coding	MA2|MM2|RGAG2	8p21.2	PNMA family member 2	Biased expression in brain (RPKM 63.2), adrenal (RPKM 6.1) and 1 other tissue
PNMA8A	chr19	 46466503	46471563	-	ENSG00000182013	protein-coding	PNMAL1	19q13.32	PNMA family member 8A	Biased expression in brain (RPKM 50.9), testis (RPKM 18.2) and 8 other tissues
PNMA8B	chr19	 46491191	46495867	-	ENSG00000204851	protein-coding	PNMAL2	19q13.32	PNMA family member 8B	-
PNMT	chr17	39667981	39670475	+	ENSG00000141744.3	protein_coding	PENT|PNMTase	17q12	phenylethanolamine N-methyltransferase	The product of this gene catalyzes the last step of the catecholamine biosynthesis pathway, which methylates norepinephrine to form epinephrine (adrenaline). The enzyme also has beta-carboline 2N-methyltransferase activity. This gene is thought to play a key step in regulating epinephrine production. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]
PNN	chr14	39175183	39183218	+	ENSG00000100941.8	protein_coding	DRS|DRSP|SDK3|memA	14q21.1	pinin, desmosome associated protein	Ubiquitous expression in bone marrow (RPKM 45.1), lymph node (RPKM 42.9) and 25 other tissues
PNO1	chr2	68157844	68176238	+	ENSG00000115946.7	protein_coding	KHRBP1|RRP20	2p14	partner of NOB1 homolog	Ubiquitous expression in thyroid (RPKM 8.8), adrenal (RPKM 8.5) and 25 other tissues
PNP	chr14	20468954	20477094	+	ENSG00000198805.11	protein_coding	NP|PRO1837|PUNP	14q11.2	purine nucleoside phosphorylase	This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008]
PNPLA1	chr6	36243203	36312229	+	ENSG00000180316.12	protein_coding	ARCI10|dJ50J22.1	6p21.31	patatin like phospholipase domain containing 1	The protein encoded by this gene belongs to the patatin-like phospholipase (PNPLA) family, which is characterized by the presence of a highly conserved patatin domain. PNPLA family members have diverse lipolytic and acyltransferase activities, and are key elements in lipid metabolism. While other members of this family have been well characterized, the function of this gene remained an enigma. However, recent studies show that this gene is expressed in the skin epidermal keratinocytes, and has a role in glycerophospholipid metabolism in the cutaneous barrier. Consistent with these observations, mutations in this gene are associated with ichthyosis in human (autosomal recessive congenital ichthyoses, ARCI) and dog. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
PNPLA2	chr11	818902	825573	+	ENSG00000177666.16	protein_coding	1110001C14Rik|ATGL|FP17548|PEDF-R|TTS-2.2|TTS2|iPLA2zeta	11p15.5	patatin like phospholipase domain containing 2	This gene encodes an enzyme which catalyzes the first step in the hydrolysis of triglycerides in adipose tissue. Mutations in this gene are associated with neutral lipid storage disease with myopathy. [provided by RefSeq, Jul 2010]
PNPLA3	chr22	43923739	43964488	+	ENSG00000100344.10	protein_coding	ADPN|C22orf20|iPLA(2)epsilon	22q13.31	patatin like phospholipase domain containing 3	The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided by RefSeq, Jul 2008]
PNPLA6	chr19	7534004	7561764	+	ENSG00000032444.15	protein_coding	BNHS|LNMS|NTE|NTEMND|OMCS|SPG39|iPLA2delta|sws	19p13.2	patatin like phospholipase domain containing 6	This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PNPLA7	chr9	137459953	137550534	-	ENSG00000130653.15	protein_coding	C9orf111|NTE-R1|NTEL1	9q34.3	patatin like phospholipase domain containing 7	Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM, Jun 2008]
PNPO	chr17	47941506	47948288	+	ENSG00000108439.9	protein_coding	HEL-S-302|PDXPO	17q21.32	pyridoxamine 5'-phosphate oxidase	The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008]
PNPT1	chr2	55634265	55693910	-	ENSG00000138035.14	protein_coding	COXPD13|DFNB70|OLD35|PNPASE|old-35	2p16.1	polyribonucleotide nucleotidyltransferase 1	The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3-to-5 exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7. [provided by RefSeq, Dec 2012]
PNRC1	chr6	89080751	89085160	+	ENSG00000146278.10	protein_coding	B4-2|PNAS-145|PROL2|PRR2	6q15	proline rich nuclear receptor coactivator 1	Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
PNRC2	chr1	23959109	23963462	+	ENSG00000189266.11	protein_coding	-	1p36.11	proline rich nuclear receptor coactivator 2	Ubiquitous expression in thyroid (RPKM 68.8), lymph node (RPKM 67.1) and 25 other tissues
POC1A	chr3	52075253	52154690	-	ENSG00000164087.7	protein_coding	PIX2|SOFT|WDR51A	3p21.2	POC1 centriolar protein A	POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in this gene result in short stature, onychodysplasia, facial dysmorphism, and hypotrichosis (SOFT) syndrome. [provided by RefSeq, Sep 2012]
POC1B	chr12	89419718	89526024	-	ENSG00000139323.13	protein_coding	CORD20|PIX1|TUWD12|WDR51B	12q21.33	POC1 centriolar protein B	POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutation in this gene result in autosomal-recessive cone-rod dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
POC1B-AS1	chr12	89525654	89548005	+	ENSG00000270344.2	antisense	-	12q21.33	POC1B antisense RNA 1	-
POC5	chr5	75674124	75717481	-	ENSG00000152359.14	protein_coding	C5orf37	5q13.3	POC5 centriolar protein	Broad expression in testis (RPKM 10.4), lymph node (RPKM 4.7) and 24 other tissues
PODN	chr1	53062052	53085502	+	ENSG00000174348.13	protein_coding	PCAN|SLRR5A	1p32.3	podocan	The protein encoded by this gene is a member of the small leucine-rich repeat protein family and contains an amino terminal CX3CXCX7C cysteine-rich cluster followed by a leucine-rich repeat domain. Studies suggest that this protein could function to inhibit smooth muscle cell proliferation and migration following arterial injury. [provided by RefSeq, Jul 2016]
PODNL1	chr19	13931187	13953392	-	ENSG00000132000.11	protein_coding	SLRR5B	19p13.12	podocan like 1	Predicted to be located in collagen-containing extracellular matrix. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
PODXL	chr7	131500262	131558217	-	ENSG00000128567.16	protein_coding	Gp200|PC|PCLP|PCLP-1|PDX|PODXL1|gp135	7q32.3	podocalyxin like	This gene encodes a member of the sialomucin protein family. The encoded protein was originally identified as an important component of glomerular podocytes. Podocytes are highly differentiated epithelial cells with interdigitating foot processes covering the outer aspect of the glomerular basement membrane. Other biological activities of the encoded protein include: binding in a membrane protein complex with Na+/H+ exchanger regulatory factor to intracellular cytoskeletal elements, playing a role in hematopoetic cell differentiation, and being expressed in vascular endothelium cells and binding to L-selectin. [provided by RefSeq, Jul 2008]
POFUT1	chr20	32207880	32238667	+	ENSG00000101346.13	protein_coding	DDD2|FUT12|O-FUT|O-Fuc-T|O-FucT-1|OFUCT1	20q11.21	protein O-fucosyltransferase 1	This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
POFUT2	chr21	45263928	45287898	-	ENSG00000186866.16	protein_coding	C21orf80|FUT13	21q22.3	protein O-fucosyltransferase 2	Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an O-fucosyltransferase that use THBS type-1 repeats as substrates (Luo et al., 2006 [PubMed 16464857]).[supplied by OMIM, Mar 2008]
POGK	chr1	166839447	166856344	+	ENSG00000143157.11	protein_coding	BASS2|KRBOX2|LST003	1q24.1	pogo transposable element derived with KRAB domain	The exact function of the protein encoded by this gene is not known. However, this gene product contains a KRAB domain (which is involved in protein-protein interactions) at the N-terminus, and a transposase domain at the C-terminus, suggesting that it may belong to the family of DNA-mediated transposons in human. [provided by RefSeq, Jul 2008]
POGLUT1	chr3	119468938	119494708	+	ENSG00000163389.10	protein_coding	C3orf9|CLP46|KDELCL1|KTELC1|LGMD2Z|LGMDR21|MDS010|MDSRP|Rumi|hCLP46	3q13.33	protein O-glucosyltransferase 1	This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
POGLUT2P1	chr5	 128109205	128111198	+	-	pseudogene	KDELC1P1	5q23.3	POGLUT2 pseudogene 1	-
POGZ	chr1	151402724	151459465	-	ENSG00000143442.21	protein_coding	MRD37|WHSUS|ZNF280E|ZNF635|ZNF635m	1q21.3	pogo transposable element derived with ZNF domain	The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010]
POLA2	chr11	65261762	65305589	+	ENSG00000014138.8	protein_coding	-	11q13.1	DNA polymerase alpha 2, accessory subunit	-
POLB	chr8	42338454	42371808	+	ENSG00000070501.11	protein_coding	-	8p11.21	DNA polymerase beta	Broad expression in testis (RPKM 24.2), urinary bladder (RPKM 8.5) and 24 other tissues
POLD2	chr7	44114681	44124358	-	ENSG00000106628.10	protein_coding	-	7p13	DNA polymerase delta 2, accessory subunit	Ubiquitous expression in heart (RPKM 20.0), ovary (RPKM 19.1) and 25 other tissues
POLD3	chr11	74493851	74669117	+	ENSG00000077514.8	protein_coding	P66|P68|PPP1R128	11q13.4	DNA polymerase delta 3, accessory subunit	This gene encodes the 66-kDa subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3 to 5 exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein plays a role in regulating the activity of DNA polymerase delta through interactions with other subunits and the processivity cofactor proliferating cell nuclear antigen (PCNA). Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]
POLD4	chr11	67350777	67356972	-	ENSG00000175482.8	protein_coding	POLDS|p12	11q13.2	DNA polymerase delta 4, accessory subunit	This gene encodes the smallest subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3 to 5 exonuclease activity and plays a critical role in DNA replication and repair. The encoded protein enhances the activity of DNA polymerase delta and plays a role in fork repair and stabilization through interactions with the DNA helicase Bloom syndrome protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
POLDIP2	chr17	28347177	28357522	-	ENSG00000004142.11	protein_coding	PDIP38|POLD4|p38	17q11.2	DNA polymerase delta interacting protein 2	This gene encodes a protein that interacts with the DNA polymerase delta p50 subunit, as well as with proliferating cell nuclear antigen. The encoded protein maybe play a role in the ability of the replication fork to bypass DNA lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
POLDIP3	chr22	42583721	42614962	-	ENSG00000100227.17	protein_coding	PDIP3|PDIP46|SKAR	22q13.2	DNA polymerase delta interacting protein 3	This gene encodes an RRM (RNA recognition motif)-containing protein that participates in the regulation of translation by recruiting ribosomal protein S6 kinase beta-1 to mRNAs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
POLE	chr12	132623753	132687365	-	ENSG00000177084.16	protein_coding	CRCS12|FILS|IMAGEI|POLE1	12q24.33	DNA polymerase epsilon, catalytic subunit	This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]
POLE3	chr9	113407235	113410672	-	ENSG00000148229.12	protein_coding	CHARAC17|CHRAC17|CHRAC2|YBL1|p17	9q32	DNA polymerase epsilon 3, accessory subunit	POLE3 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]
POLE4	chr2	74958492	74970128	+	ENSG00000115350.11	protein_coding	YHHQ1|p12	2p12	DNA polymerase epsilon 4, accessory subunit	POLE4 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]
POLG	chr15	89305198	89334861	-	ENSG00000140521.12	protein_coding	MDP1|MIRAS|MTDPS4A|MTDPS4B|PEO|POLG1|POLGA|SANDO|SCAE	15q26.1	DNA polymerase gamma, catalytic subunit	Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
POLG2	chr17	64477785	64497036	-	ENSG00000256525.6	protein_coding	HP55|MTDPS16|MTDPS16A|MTDPS16B|MTPOLB|PEOA4|POLB|POLG-BETA|POLGB	17q23.3	DNA polymerase gamma 2, accessory subunit	This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]
POLI	chr18	54269404	54321266	+	ENSG00000101751.10	protein_coding	RAD30B|RAD3OB|eta2	18q21.2	DNA polymerase iota	The protein encoded by this gene is an error-prone DNA polymerase involved in DNA repair. The encoded protein promotes DNA synthesis across lesions in the template DNA, which other polymerases cannot do. The encoded polymerase inserts deoxynucleotides across lesions and then relies on DNA polymerase zeta to extend the nascent DNA strand to bypass the lesion. [provided by RefSeq, May 2017]
POLK	chr5	75511756	75601144	+	ENSG00000122008.15	protein_coding	DINB1|DINP|POLQ	5q13.3	DNA polymerase kappa	This gene encodes a member of the DNA polymerase type-Y family of proteins. The encoded protein is a specialized DNA polymerase that catalyzes translesion DNA synthesis, which allows DNA replication in the presence of DNA lesions. Human cell lines lacking a functional copy of this gene exhibit impaired genome integrity and enhanced susceptibility to oxidative damage. Mutations in this gene that impair enzyme activity may be associated with prostate cancer in human patients. [provided by RefSeq, Sep 2016]
POLL	chr10	101578882	101588270	-	ENSG00000166169.16	protein_coding	BETAN|POLKAPPA	10q24.32	DNA polymerase lambda	This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]
POLM	chr7	44072247	44082540	-	ENSG00000122678.16	protein_coding	Pol Mu|Tdt-N	7p13	DNA polymerase mu	Ubiquitous expression in spleen (RPKM 6.9), lymph node (RPKM 5.6) and 25 other tissues
POLN	chr4	2071918	2242121	-	ENSG00000130997.16	protein_coding	POL4P	4p16.3	DNA polymerase nu	This gene encodes a DNA polymerase type-A family member. The encoded protein plays a role in DNA repair and homologous recombination. This gene shares its 5 exons with some transcripts from overlapping GeneID: 79441, which encodes an augmentin-like protein complex subunit. [provided by RefSeq, Dec 2014]
POLR1A	chr2	86020216	86106155	-	ENSG00000068654.15	protein_coding	A190|AFDCIN|RPA1|RPA190|RPA194|RPO1-4|RPO14	2p11.2	RNA polymerase I subunit A	The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016]
POLR1B	chr2	112541915	112577150	+	ENSG00000125630.15	protein_coding	A135|RPA135|RPA2|Rpo1-2|TCS4	2q14.1	RNA polymerase I subunit B	Eukaryotic RNA polymerase I (pol I) is responsible for the transcription of ribosomal RNA (rRNA) genes and production of rRNA, the primary component of ribosomes. Pol I is a multisubunit enzyme composed of 6 to 14 polypeptides, depending on the species. Most of the mass of the pol I complex derives from the 2 largest subunits, Rpa1 and Rpa2 in yeast. POLR1B is homologous to Rpa2 (Seither and Grummt, 1996 [PubMed 8921381]).[supplied by OMIM, Mar 2008]
POLR1C	chr6	43509702	43529585	+	ENSG00000171453.17	protein_coding	AC40|HLD11|RPA39|RPA40|RPA5|RPAC1|RPC40|TCS3	6p21.1	RNA polymerase I and III subunit C	The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
POLR1D	chr13	27620742	27744237	+	ENSG00000186184.16	protein_coding	AC19|POLR1C|RPA16|RPA9|RPAC2|RPC16|RPO1-3|TCS2	13q12.2	RNA polymerase I and III subunit D	The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]
POLR1E	chr9	37485935	37503697	+	ENSG00000137054.15	protein_coding	A49|PAF53|PRAF1|RPA49	9p13.2	RNA polymerase I subunit E	Ubiquitous expression in ovary (RPKM 15.6), endometrium (RPKM 8.0) and 25 other tissues
POLR1F	chr7	 19695461	19709037	-	ENSG00000105849	protein-coding	A43|RPA43|TWISTNB	7p21.1	RNA polymerase I subunit F	-
POLR1G	chr19	 45406644	45410737	+	ENSG00000117877	protein-coding	ASE-1|ASE1|CAST|CD3EAP|PAF49|RPA34	19q13.32	RNA polymerase I subunit G	-
POLR1H	chr6	 30060062	30064907	+	ENSG00000066379	protein-coding	A12.2|HTEX-6|HTEX6|Rpa12|TCTEX6|TEX6|ZNRD1|ZR14|hZR14|tctex-6	6p22.1	RNA polymerase I subunit H	-
POLR2A	chr17	7484366	7514616	+	ENSG00000181222.15	protein_coding	NEDHIB|POLR2|POLRA|RPB1|RPBh1|RPO2|RPOL2|RpIILS|hRPB220|hsRPB1	17p13.1	RNA polymerase II subunit A	This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]
POLR2B	chr4	56977722	57031168	+	ENSG00000047315.15	protein_coding	POL2RB|RPB2|hRPB140	4q12	RNA polymerase II subunit B	This gene encodes the second largest subunit of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase that catalyzes the transcription of DNA into precursors of mRNA, snRNA and microRNA. This subunit and the largest subunit form opposite sides of the center cleft of Pol II. Deletion of the flap loop region of this subunit results in a decrease in the rate of transcriptional elongation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
POLR2C	chr16	57462387	57472010	+	ENSG00000102978.12	protein_coding	RPB3|RPB31|hRPB33|hsRPB3	16q21	RNA polymerase II subunit C	This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a cysteine rich region and exists as a heterodimer with another polymerase subunit, POLR2J. These two subunits form a core subassembly unit of the polymerase. A pseudogene has been identified on chromosome 21. [provided by RefSeq, Jul 2008]
POLR2D	chr2	127843551	127858157	-	ENSG00000144231.10	protein_coding	HSRBP4|HSRPB4|RBP4|RPB16|RPB4	2q14.3	RNA polymerase II subunit D	This gene encodes the fourth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit is associated with the polymerase under suboptimal growth conditions and may have a stress protective role. A sequence for a ribosomal pseudogene is contained within the 3 untranslated region of the transcript from this gene. [provided by RefSeq, Jul 2008]
POLR2E	chr19	1086579	1095380	-	ENSG00000099817.11	protein_coding	RPABC1|RPB5|XAP4|hRPB25|hsRPB5	19p13.3	RNA polymerase II, I and III subunit E	This gene encodes the fifth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases and is present in two-fold molar excess over the other polymerase subunits. An interaction between this subunit and a hepatitis virus transactivating protein has been demonstrated, suggesting that interaction between transcriptional activators and the polymerase can occur through this subunit. A pseudogene is located on chromosome 11. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
POLR2F	chr22	37952607	38041915	+	ENSG00000100142.14	protein_coding	HRBP14.4|POLRF|RPABC14.4|RPABC2|RPB14.4|RPB6|RPC15	22q13.1	RNA polymerase II, I and III subunit F	This gene encodes the sixth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit, in combination with at least two other subunits, forms a structure that stabilizes the transcribing polymerase on the DNA template. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
POLR2G	chr11	62761544	62766710	+	ENSG00000168002.11	protein_coding	RPB19|RPB7|hRPB19|hsRPB7	11q12.3	RNA polymerase II subunit G	This gene encodes the seventh largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The protein functions in transcription initiation, and is also thought to help stabilize transcribing polyermase molecules during elongation. [provided by RefSeq, Jan 2009]
POLR2H	chr3	184361718	184368596	+	ENSG00000163882.9	protein_coding	RPABC3|RPB17|RPB8	3q27.1	RNA polymerase II, I and III subunit H	The three eukaryotic RNA polymerases are complex multisubunit enzymes that play a central role in the transcription of nuclear genes. This gene encodes an essential and highly conserved subunit of RNA polymerase II that is shared by the other two eukaryotic DNA-directed RNA polymerases, I and III. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
POLR2I	chr19	36113710	36115346	-	ENSG00000105258.8	protein_coding	RPB9|hRPB14.5	19q13.12	RNA polymerase II subunit I	This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with two other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. The product of this gene has two zinc finger motifs with conserved cysteines and the subunit does possess zinc binding activity. [provided by RefSeq, Jul 2008]
POLR2J	chr7	102473118	102478907	-	ENSG00000005075.15	protein_coding	POLR2J1|RPB11|RPB11A|RPB11m|hRPB14	7q22.1	RNA polymerase II subunit J	This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene exists as a heterodimer with another polymerase subunit; together they form a core subassembly unit of the polymerase. Two similar genes are located nearby on chromosome 7q22.1 and a pseudogene is found on chromosome 7p13. [provided by RefSeq, Jul 2008]
POLR2J3	chr7	102537918	102572656	-	ENSG00000168255.19	protein_coding	POLR2J2|RPB11b1|RPB11b2	7q22.1	RNA polymerase II subunit J3	This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3 end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [provided by RefSeq, Jul 2008]
POLR2J4	chr7	43940895	44019175	-	ENSG00000214783.9	processed_transcript	RPB11-phi	7p13	RNA polymerase II subunit J4, pseudogene	Ubiquitous expression in esophagus (RPKM 7.2), thyroid (RPKM 4.8) and 25 other tissues
POLR2K	chr8	100150584	100154002	+	ENSG00000147669.10	protein_coding	ABC10-alpha|RPABC4|RPB10alpha|RPB12|RPB7.0|hRPB7.0|hsRPB10a	8q22.2	RNA polymerase II, I and III subunit K	This gene encodes one of the smallest subunits of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit is shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008]
POLR2L	chr11	837356	842545	-	ENSG00000177700.5	protein_coding	RBP10|RPABC5|RPB10|RPB10beta|RPB7.6|hRPB7.6	11p15.5	RNA polymerase II, I and III subunit L	This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains four conserved cysteines characteristic of an atypical zinc-binding domain. Like its counterpart in yeast, this subunit may be shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008]
POLR2M	chr15	57706629	57782762	+	ENSG00000255529.7	protein_coding	GCOM1|GRINL1A|Gdown|Gdown1	15q21.3	RNA polymerase II subunit M	This gene encodes a subunit of a specific form of RNA polymerase II termed Pol II(G). The encoded protein may act as a negative regulator of transcriptional activation by the Mediator complex. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 4. Readthrough transcription between this gene and the neighboring upstream gene MYZAP (myocardial zonula adherens protein) is represented with GeneID 145781. [provided by RefSeq, Oct 2013]
POLR2MP1	chr4	 68038416	68042511	+	-	pseudogene	GCOM2|GLURR2|GRINL1B	4q13.2	POLR2M pseudogene 1	-
POLR3A	chr10	77969251	78029545	-	ENSG00000148606.12	protein_coding	ADDH|C160|HLD7|RPC1|RPC155|WDRTS|hRPC155	10q22.3	RNA polymerase III subunit A	The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]
POLR3B	chr12	106357658	106510198	+	ENSG00000013503.9	protein_coding	C128|HLD8|INMAP|RPC2	12q23.3	RNA polymerase III subunit B	This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
POLR3C	chr1	145824088	145842505	+	ENSG00000186141.8	protein_coding	C82|RPC3|RPC62	1q21.1	RNA polymerase III subunit C	Ubiquitous expression in testis (RPKM 7.3), lymph node (RPKM 3.9) and 25 other tissues
POLR3D	chr8	22245104	22254600	+	ENSG00000168495.12	protein_coding	BN51T|C53|RPC4|RPC53|TSBN51	8p21.3	RNA polymerase III subunit D	This gene complements a temperature-sensitive mutant isolated from the BHK-21 Syrian hamster cell line. It leads to a block in progression through the G1 phase of the cell cycle at nonpermissive temperatures. [provided by RefSeq, Jul 2008]
POLR3E	chr16	22297375	22335103	+	ENSG00000058600.15	protein_coding	C37|RPC5|SIN	16p12.2	RNA polymerase III subunit E	Ubiquitous expression in prostate (RPKM 6.2), thyroid (RPKM 6.1) and 25 other tissues
POLR3F	chr20	18467127	18484643	+	ENSG00000132664.11	protein_coding	C34|RPC39|RPC6	20p11.23	RNA polymerase III subunit F	The protein encoded by this gene is one of more than a dozen subunits forming eukaryotic RNA polymerase III (RNA Pol III), which transcribes 5S ribosomal RNA and tRNA genes. This protein has been shown to bind both TFIIIB90 and TBP, two subunits of RNA polymerase III transcription initiation factor IIIB (TFIIIB). Unlike most of the other RNA Pol III subunits, the encoded protein is unique to this polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
POLR3G	chr5	90471748	90514553	+	ENSG00000113356.11	protein_coding	C31|RPC32|RPC7	5q14.3	RNA polymerase III subunit G	Broad expression in testis (RPKM 1.8), esophagus (RPKM 1.0) and 24 other tissues
POLR3H	chr22	41525804	41544606	-	ENSG00000100413.16	protein_coding	C25|RPC22.9|RPC8	22q13.2	RNA polymerase III subunit H	Ubiquitous expression in heart (RPKM 36.2), kidney (RPKM 22.6) and 25 other tissues
POLR3K	chr16	46407	53628	-	ENSG00000161980.5	protein_coding	C11|C11-RNP3|HLD21|My010|RPC10|RPC11|RPC12.5	16p13.3	RNA polymerase III subunit K	This gene encodes a small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subunit shares a high degree of sequence similarity to the carboxy-terminal domain of an RNA polymerase II elongation factor. This similarity in sequence is supported by functional studies showing that this subunit is required for proper pausing and termination during transcription. Pseudogenes of this gene are found on chromosomes 13 and 17.[provided by RefSeq, Jul 2010]
POLRMT	chr19	617224	633604	-	ENSG00000099821.13	protein_coding	APOLMT|MTRNAP|MTRPOL|h-mtRPOL	19p13.3	RNA polymerase mitochondrial	This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008]
POLRMTP1	chr17	62136972	62140639	-	ENSG00000266066.1	processed_pseudogene	POLRMTL	17q23.2	RNA polymerase mitochondrial pseudogene 1	-
POM121	chr7	72879365	72951440	+	ENSG00000196313.11	protein_coding	P145|POM121A	7q11.23	POM121 transmembrane nucleoporin	This gene encodes a transmembrane protein that localizes to the inner nuclear membrane and forms a core component of the nuclear pore complex, which mediates transport to and from the nucleus. The encoded protein may anchor this complex to the nuclear envelope. There are multiple related genes and pseudogenes for this gene on chromosomes 5, 7, 15, and 22. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]
POM121B	chr7	73293497	73301161	+	ENSG00000205578.5	unprocessed_pseudogene	-	7q11.23	POM121 transmembrane nucleoporin B (pseudogene)	-
POM121C	chr7	75416787	75486271	-	ENSG00000272391.5	protein_coding	POM121-2	7q11.23	POM121 transmembrane nucleoporin C	Ubiquitous expression in bone marrow (RPKM 18.6), testis (RPKM 15.6) and 25 other tissues
POM121L10P	chr22	24657481	24658765	-	ENSG00000224124.3	processed_pseudogene	-	22q11.23	POM121 transmembrane nucleoporin like 10, pseudogene	-
POM121L6P	chr6	26896952	26898777	+	ENSG00000243307.2	processed_pseudogene	bA239L20.2	6p22.2	POM121 transmembrane nucleoporin like 6, pseudogene	-
POM121L9P	chr22	24251828	24265525	+	ENSG00000128262.8	transcribed_unprocessed_pseudogene	DKFZP434P211|UNQ2565	22q11.23	POM121 transmembrane nucleoporin like 9, pseudogene	This locus is inferred to be a transcribed pseudogene based on the observation that protein homology is limited to the first of seven exons (indicated by alignment of AL117401.1 to the assembled human genome). This pattern suggests rapid turnover by the nonsense-mediated decay pathway. [provided by RefSeq, Jul 2008]
POMC	chr2	25160853	25168903	-	ENSG00000115138.10	protein_coding	ACTH|CLIP|LPH|MSH|NPP|OBAIRH|POC	2p23.3	proopiomelanocortin	This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the preproprotein and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. The antimicrobial melanotropin alpha peptide exhibits antibacterial and antifungal activity. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jan 2016]
POMGNT1	chr1	46188682	46220305	-	ENSG00000085998.13	protein_coding	GNTI.2|GnT I.2|LGMD2O|LGMDR15|MEB|MGAT1.2|RP76|gnT-I.2	1p34.1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]
POMGNT2	chr3	43079232	43106076	-	ENSG00000144647.5	protein_coding	AGO61|C3orf39|GTDC2|MDDGA8|MDDGC8	3p22.1	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]
POMK	chr8	43093506	43123434	+	ENSG00000185900.9	protein_coding	MDDGA12|MDDGC12|SGK196	8p11.21	protein O-mannose kinase	This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
POMP	chr13	28659104	28678925	+	ENSG00000132963.7	protein_coding	C13orf12|HSPC014|PNAS-110|PRAAS2|UMP1	13q12.3	proteasome maturation protein	The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5 UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug 2010]
POMT1	chr9	131502902	131523806	+	ENSG00000130714.15	protein_coding	LGMD2K|LGMDR11|MDDGA1|MDDGB1|MDDGC1|RT	9q34.13	protein O-mannosyltransferase 1	The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
POMT2	chr14	77274956	77320884	-	ENSG00000009830.11	protein_coding	LGMD2N|LGMDR14|MDDGA2|MDDGB2|MDDGC2	14q24.3	protein O-mannosyltransferase 2	The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008]
PON1	chr7	95297676	95324707	-	ENSG00000005421.8	protein_coding	ESA|MVCD5|PON	7q21.3	paraoxonase 1	This gene encodes a member of the paraoxonase family of enzymes and exhibits lactonase and ester hydrolase activity. Following synthesis in the kidney and liver, the enzyme is secreted into the circulation, where it binds to high density lipoprotein (HDL) particles and hydrolyzes thiolactones and xenobiotics, including paraoxon, a metabolite of the insecticide parathion. Polymorphisms in this gene may be associated with coronary artery disease and diabetic retinopathy. The gene is found in a cluster of three related paraoxonase genes on chromosome 7. [provided by RefSeq, Aug 2017]
PON2	chr7	95404863	95435329	-	ENSG00000105854.12	protein_coding	-	7q21.3	paraoxonase 2	Ubiquitous expression in brain (RPKM 81.0), adrenal (RPKM 61.6) and 23 other tissues
PON3	chr7	95359944	95396368	-	ENSG00000105852.10	protein_coding	-	7q21.3	paraoxonase 3	Biased expression in liver (RPKM 130.3) and ovary (RPKM 7.4)
POP5	chr12	120578764	120581398	-	ENSG00000167272.10	protein_coding	HSPC004|RPP2|RPP20|hPop5	12q24.31	POP5 homolog, ribonuclease P/MRP subunit	Ubiquitous expression in adrenal (RPKM 15.3), fat (RPKM 13.2) and 25 other tissues
POP7	chr7	100706053	100707495	+	ENSG00000172336.4	protein_coding	0610037N12Rik|RPP2|RPP20	7q22.1	POP7 homolog, ribonuclease P/MRP subunit	Ubiquitous expression in prostate (RPKM 11.3), brain (RPKM 11.1) and 25 other tissues
POPDC2	chr3	119636457	119665324	-	ENSG00000121577.13	protein_coding	POP2	3q13.33	popeye domain containing 2	This gene encodes a member of the POP family of proteins which contain three putative transmembrane domains. This membrane associated protein is predominantly expressed in skeletal and cardiac muscle, and may have an important function in these tissues. [provided by RefSeq, Jul 2008]
POPDC3	chr6	105158280	105179995	-	ENSG00000132429.9	protein_coding	LGMDR26|POP3|bA355M14.1	6q21	popeye domain containing 3	This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2008]
POR	chr7	75899200	75986855	+	ENSG00000127948.15	protein_coding	CPR|CYPOR|P450R	7q11.23	cytochrome p450 oxidoreductase	This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. The encoded protein has a flavin adenine dinucleotide (FAD)-binding domain and a flavodoxin-like domain which bind two cofactors, FAD and FMN, that allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene cause a complex set of disorders, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome, that resemble those caused by defects in steroid metabolizing enzymes such as aromatase, 21-hydroxylase, and 17 alpha-hydroxylase. [provided by RefSeq, Aug 2020]
POSTN	chr13	37562583	37598844	-	ENSG00000133110.14	protein_coding	OSF-2|OSF2|PDLPOSTN|PN	13q13.3	periostin	This gene encodes a secreted extracellular matrix protein that functions in tissue development and regeneration, including wound healing, and ventricular remodeling following myocardial infarction. The encoded protein binds to integrins to support adhesion and migration of epithelial cells. This protein plays a role in cancer stem cell maintenance and metastasis. Mice lacking this gene exhibit cardiac valve disease, and skeletal and dental defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
POT1	chr7	124822386	124929983	-	ENSG00000128513.14	protein_coding	CMM10|GLM9|HPOT1	7q31.33	protection of telomeres 1	This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
POTEA	chr8	43292483	43363518	+	ENSG00000188877.12	polymorphic_pseudogene	A26A1|CT104.3|POTE-8|POTE8	8p11.1	POTE ankyrin domain family member A	Low expression observed in reference dataset
POTEF	chr2	130074030	130129222	-	ENSG00000196604.12	protein_coding	A26C1B|ACTB|POTE2alpha|POTEACTIN	2q21.1	POTE ankyrin domain family member F	Involved in retina homeostasis. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
POU1F1	chr3	87259404	87276587	-	ENSG00000064835.10	protein_coding	CPHD1|GHF-1|PIT1|POU1F1a|Pit-1	3p11.2	POU class 1 homeobox 1	This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
POU2AF1	chr11	111352252	111455630	-	ENSG00000110777.11	protein_coding	BOB1|OBF-1|OBF1|OCAB	11q23.1	POU class 2 homeobox associating factor 1	Biased expression in lymph node (RPKM 29.3), appendix (RPKM 16.6) and 9 other tissues
POU2F2	chr19	42086110	42196585	-	ENSG00000028277.21	protein_coding	OCT2|OTF2|Oct-2	19q13.2	POU class 2 homeobox 2	The protein encoded by this gene is a homeobox-containing transcription factor of the POU domain family. The encoded protein binds the octamer sequence 5-ATTTGCAT-3, a common transcription factor binding site in immunoglobulin gene promoters. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
POU2F3	chr11	120236640	120319944	+	ENSG00000137709.9	protein_coding	Epoc-1|OCT-11|OCT11|OTF-11|PLA-1|PLA1|Skn-1a	11q23.3	POU class 2 homeobox 3	This gene encodes a member of the POU domain family of transcription factors. POU domain transcription factors bind to a specific octamer DNA motif and regulate cell type-specific differentiation pathways. The encoded protein is primarily expressed in the epidermis, and plays a critical role in keratinocyte proliferation and differentiation. The encoded protein is also a candidate tumor suppressor protein, and aberrant promoter methylation of this gene may play a role in cervical cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
POU3F1	chr1	38044611	38046794	-	ENSG00000185668.7	protein_coding	OCT6|OTF6|SCIP	1p34.3	POU class 3 homeobox 1	-
POU3F2	chr6	98834592	98839470	+	ENSG00000184486.9	protein_coding	BRN2|N-Oct3|OCT7|OTF-7|OTF7|POUF3|brn-2|oct-7	6q16.1	POU class 3 homeobox 2	This gene encodes a member of the POU-III class of neural transcription factors. The encoded protein is involved in neuronal differentiation and enhances the activation of corticotropin-releasing hormone regulated genes. Overexpression of this protein is associated with an increase in the proliferation of melanoma cells. [provided by RefSeq, Mar 2012]
POU3F3	chr2	104855511	104858574	+	ENSG00000198914.3	protein_coding	BRN1|OTF8|SNIBFIS|brain-1|oct-8	2q12.1	POU class 3 homeobox 3	This gene encodes a POU-domain containing protein that functions as a transcription factor. The encoded protein recognizes an octamer sequence in the DNA of target genes. This protein may play a role in development of the nervous system. [provided by RefSeq, Apr 2015]
POU4F1	chr13	78598362	78603560	-	ENSG00000152192.7	protein_coding	ATITHS|BRN3A|Oct-T1|RDC-1|brn-3A	13q31.1	POU class 4 homeobox 1	This gene encodes a member of the POU-IV class of neural transcription factors. This protein is expressed in a subset of retinal ganglion cells and may be involved in the developing sensory nervous system. This protein may also promote the growth of cervical tumors. A translocation of this gene is associated with some adult acute myeloid leukemias. [provided by RefSeq, Mar 2012]
POU5F1	chr6	31164337	31180731	-	ENSG00000204531.17	protein_coding	OCT3|OCT4|OTF-3|OTF3|OTF4|Oct-3|Oct-4	6p21.33	POU class 5 homeobox 1	This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewings sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. [provided by RefSeq, Oct 2013]
POU5F1B	chr8	127414290	127420069	+	ENSG00000212993.4	protein_coding	OCT4-PG1|OCT4PG1|OTF3C|OTF3P1|POU5F1P1|POU5F1P4|POU5FLC20|POU5FLC8	8q24.21	POU class 5 homeobox 1B	This intronless gene was thought to be a transcribed pseudogene of POU class 5 homeobox 1, however, it has been reported that this gene can encode a functional protein. The encoded protein is nearly the same length as and highly similar to the POU class 5 homeobox 1 transcription factor, has been shown to be a weak transcriptional activator and may play a role in carcinogenesis and eye development. [provided by RefSeq, Apr 2009]
POU5F1P4	chr1	155433178	155434262	+	ENSG00000237872.4	processed_pseudogene	OCT3|OCT4|OTF-3|OTF3|Oct-3|Oct-4|Oct4-pg4|POU5F1|POU5FLC1	1q22	POU class 5 homeobox 1 pseudogene 4	-
POU5F1P5	chr10	68010205	68010862	-	ENSG00000236375.3	processed_pseudogene	Oct4-pg5	10q21.3	POU class 5 homeobox 1 pseudogene 5	-
POU5F1P6	chr3	128674735	128677005	-	ENSG00000242551.2	unprocessed_pseudogene	-	3q21.3	POU class 5 homeobox 1 pseudogene 6	-
POU5F2	chr5	93733220	93741637	-	ENSG00000248483.6	protein_coding	SPRM-1	5q15	POU domain class 5, transcription factor 2	-
POU6F1	chr12	51186936	51217708	-	ENSG00000184271.16	protein_coding	BRN5|MPOU|TCFB1	12q13.13	POU class 6 homeobox 1	Ubiquitous expression in brain (RPKM 4.7), ovary (RPKM 3.6) and 23 other tissues
POU6F2	chr7	38977998	39493095	+	ENSG00000106536.19	protein_coding	RPF-1|WT5|WTSL	7p14.1	POU class 6 homeobox 2	This gene encodes a member of the POU protein family characterized by the presence of a bipartite DNA binding domain, consisting of a POU-specific domain and a homeodomain, separated by a variable polylinker. The DNA binding domain may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner. The POU family members are transcriptional regulators, many of which are known to control cell type-specific differentiation pathways. This gene is a tumor suppressor involved in Wilms tumor (WT) predisposition. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
POU6F2-AS1	chr7	39404598	39406346	-	ENSG00000224122.1	antisense	-	7p14.1	POU6F2 antisense RNA 1	-
PP12613	chr4	121764585	121766814	+	ENSG00000226757.2	antisense	-	4q27	uncharacterized LOC100192379	-
PP14571	chr2	240449315	240456714	-	ENSG00000218416.4	processed_transcript	-	-	-	-
PP7080	chr5	466124	473098	-	ENSG00000188242.4	antisense	-	5p15.33	uncharacterized LOC25845	-
PPA1	chr10	70202830	70233911	-	ENSG00000180817.11	protein_coding	HEL-S-66p|IOPPP|PP|PP1|SID6-8061	10q22.1	inorganic pyrophosphatase 1	The protein encoded by this gene is a member of the inorganic pyrophosphatase (PPase) family. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Studies of a similar protein in bovine suggested a cytoplasmic localization of this enzyme. [provided by RefSeq, Jul 2008]
PPA2	chr4	105369077	105474081	-	ENSG00000138777.19	protein_coding	HSPC124|SCFAI|SCFI|SID6-306	4q24	inorganic pyrophosphatase 2	The protein encoded by this gene is localized to the mitochondrion, is highly similar to members of the inorganic pyrophosphatase (PPase) family, and contains the signature sequence essential for the catalytic activity of PPase. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PPAN	chr19	10106289	10111634	+	ENSG00000130810.19	protein_coding	BXDC3|SSF|SSF-1|SSF1|SSF2	19p13.2	peter pan homolog	The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. Read-through transcription of this gene with P2RY11/P2Y(11), an adjacent downstream gene that encodes an ATP receptor, has been found. These read-through transcripts are ubiquitously present and up-regulated during granulocyte differentiation. [provided by RefSeq, Nov 2010]
PPARA	chr22	46150521	46243756	+	ENSG00000186951.16	protein_coding	NR1C1|PPAR|PPAR-alpha|PPARalpha|hPPAR	22q13.31	peroxisome proliferator activated receptor alpha	Peroxisome proliferators include hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular organelles found in plants and animals that contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thought to be mediated via specific receptors, called PPARs, which belong to the steroid hormone receptor superfamily. PPARs affect the expression of target genes involved in cell proliferation, cell differentiation and in immune and inflammation responses. Three closely related subtypes (alpha, beta/delta, and gamma) have been identified. This gene encodes the subtype PPAR-alpha, which is a nuclear transcription factor. Multiple alternatively spliced transcript variants have been described for this gene, although the full-length nature of only two has been determined. [provided by RefSeq, Jul 2008]
PPARD	chr6	35342558	35428191	+	ENSG00000112033.13	protein_coding	FAAR|NR1C2|NUC1|NUCI|NUCII|PPARB	6p21.31	peroxisome proliferator activated receptor delta	This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) family. The encoded protein is thought to function as an integrator of transcriptional repression and nuclear receptor signaling. It may inhibit the ligand-induced transcriptional activity of peroxisome proliferator activated receptors alpha and gamma, though evidence for this effect is inconsistent. Expression of this gene in colorectal cancer cells may be variable but is typically relatively low. Knockout studies in mice suggested a role for this protein in myelination of the corpus callosum, lipid metabolism, differentiation, and epidermal cell proliferation. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Aug 2017]
PPARG	chr3	12287368	12434356	+	ENSG00000132170.19	protein_coding	CIMT1|GLM1|NR1C3|PPARG1|PPARG2|PPARG5|PPARgamma	3p25.2	peroxisome proliferator activated receptor gamma	This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]
PPARGC1A	chr4	23755041	23904089	-	ENSG00000109819.8	protein_coding	LEM6|PGC-1(alpha)|PGC-1alpha|PGC-1v|PGC1|PGC1A|PPARGC1	4p15.2	PPARG coactivator 1 alpha	The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008]
PPARGC1B	chr5	149730298	149855022	+	ENSG00000155846.16	protein_coding	ERRL1|PERC|PGC-1(beta)|PGC1B	5q32	PPARG coactivator 1 beta	The protein encoded by this gene stimulates the activity of several transcription factors and nuclear receptors, including estrogen receptor alpha, nuclear respiratory factor 1, and glucocorticoid receptor. The encoded protein may be involved in fat oxidation, non-oxidative glucose metabolism, and the regulation of energy expenditure. This protein is downregulated in prediabetic and type 2 diabetes mellitus patients. Certain allelic variations in this gene increase the risk of the development of obesity. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
PPAT	chr4	56393362	56435615	-	ENSG00000128059.8	protein_coding	ATASE|GPAT|PRAT	4q12	phosphoribosyl pyrophosphate amidotransferase	The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This gene and PAICS/AIRC gene, a bifunctional enzyme catalyzing steps six and seven of this pathway, are located in close proximity on chromosome 4, and divergently transcribed from an intergenic region. [provided by RefSeq, Mar 2011]
PPBP	chr4	73987038	73988197	-	ENSG00000163736.3	protein_coding	B-TG1|Beta-TG|CTAP-III|CTAP3|CTAPIII|CXCL7|LA-PF4|LDGF|MDGF|NAP-2|PBP|SCYB7|TC1|TC2|TGB|TGB1|THBGB|THBGB1	4q13.3	pro-platelet basic protein	The protein encoded by this gene is a platelet-derived growth factor that belongs to the CXC chemokine family. This growth factor is a potent chemoattractant and activator of neutrophils. It has been shown to stimulate various cellular processes including DNA synthesis, mitosis, glycolysis, intracellular cAMP accumulation, prostaglandin E2 secretion, and synthesis of hyaluronic acid and sulfated glycosaminoglycan. It also stimulates the formation and secretion of plasminogen activator by synovial cells. The protein also is an antimicrobial protein with bactericidal and antifungal activity. [provided by RefSeq, Nov 2014]
PPCDC	chr15	75023555	75117462	+	ENSG00000138621.11	protein_coding	MDS018|PPC-DC|coaC	15q24.2	phosphopantothenoylcysteine decarboxylase	Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCDC (EC 4.1.1.36), one of the last enzymes in this pathway, converts phosphopantothenoylcysteine to 4-prime-phosphopantetheine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]
PPCS	chr1	42456117	42473385	+	ENSG00000127125.8	protein_coding	CMD2C	1p34.2	phosphopantothenoylcysteine synthetase	Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCS (EC 6.3.2.5), one of the last enzymes in this pathway, converts phosphopantothenate to phosphopantothenoylcysteine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]
PPDPF	chr20	63520724	63522206	+	ENSG00000125534.9	protein_coding	C20orf149|dJ697K14.9|exdpf	20q13.33	pancreatic progenitor cell differentiation and proliferation factor	Broad expression in colon (RPKM 131.3), stomach (RPKM 115.2) and 25 other tissues
PPDPFL	chr8	 49054336	49076093	+	ENSG00000168333	protein-coding	C8orf22	8q11.21	pancreatic progenitor cell differentiation and proliferation factor like	Biased expression in prostate (RPKM 1.7), esophagus (RPKM 0.6) and 1 other tissue
PPEF2	chr4	75859864	75902571	-	ENSG00000156194.17	protein_coding	PPP7CB	4q21.1	protein phosphatase with EF-hand domain 2	This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein, which is expressed specifically in photoreceptors and the pineal, has been suggested to play a role in the visual system. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. [provided by RefSeq, Jul 2008]
PPFIA1	chr11	70270700	70384403	+	ENSG00000131626.16	protein_coding	LIP.1|LIP1|LIPRIN	11q13.3	PTPRF interacting protein alpha 1	The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. This protein binds to the intracellular membrane-distal phosphatase domain of tyrosine phosphatase LAR, and appears to localize LAR to cell focal adhesions. This interaction may regulate the disassembly of focal adhesion and thus help orchestrate cell-matrix interactions. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PPFIA2	chr12	81257975	81759553	-	ENSG00000139220.16	protein_coding	-	12q21.31	PTPRF interacting protein alpha 2	Biased expression in brain (RPKM 7.4), adrenal (RPKM 1.4) and 1 other tissue
PPFIA3	chr19	49119389	49151026	+	ENSG00000177380.13	protein_coding	LPNA3	19q13.33	PTPRF interacting protein alpha 3	The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [provided by RefSeq, Jul 2008]
PPFIA4	chr1	203026498	203078740	+	ENSG00000143847.15	protein_coding	-	1q32.1	PTPRF interacting protein alpha 4	Biased expression in brain (RPKM 8.9), heart (RPKM 8.4) and 10 other tissues
PPFIBP1	chr12	27523431	27695564	+	ENSG00000110841.13	protein_coding	L2|SGT2|hSGT2|hSgt2p	12p11.23-p11.22	PPFIA binding protein 1	The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. It has been proposed that liprins are multivalent proteins that form complex structures and act as scaffolds for the recruitment and anchoring of LAR family of tyrosine phosphatases. This protein was found to interact with S100A4, a calcium-binding protein related to tumor invasiveness and metastasis. In vitro experiment demonstrated that the interaction inhibited the phosphorylation of this protein by protein kinase C and protein kinase CK2. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PPFIBP2	chr11	7513298	7657127	+	ENSG00000166387.11	protein_coding	Cclp1	11p15.4	PPFIA binding protein 2	This gene encodes a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. The encoded protein is a beta liprin and plays a role in axon guidance and neuronal synapse development by recruiting LAR protein-tyrosine phosphatases to the plasma membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
PPHLN1	chr12	42238447	42459715	+	ENSG00000134283.17	protein_coding	CR|HSPC206|HSPC232	12q12	periphilin 1	The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PPIA	chr7	44796680	44824564	+	ENSG00000196262.13	protein_coding	CYPA|CYPH|HEL-S-69p	7p13	peptidylprolyl isomerase A	This gene encodes a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. The encoded protein is a cyclosporin binding-protein and may play a role in cyclosporin A-mediated immunosuppression. The protein can also interact with several HIV proteins, including p55 gag, Vpr, and capsid protein, and has been shown to be necessary for the formation of infectious HIV virions. Multiple pseudogenes that map to different chromosomes have been reported. [provided by RefSeq, Jul 2008]
PPIAL4A	chr1	120889746	120890405	+	ENSG00000263353.3	protein_coding	COAS-2|COAS2|PPIAL4|PPIAL4B	1p11.2	peptidylprolyl isomerase A like 4A	Predicted to enable cyclosporin A binding activity and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding and protein peptidyl-prolyl isomerization. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
PPIAP11	chr5	82009602	82010094	-	ENSG00000251495.1	processed_pseudogene	PPIP1	5q14.1	peptidylprolyl isomerase A pseudogene 11	-
PPIAP14	chr18	5002759	5003254	-	ENSG00000264775.1	processed_pseudogene	PPIP4	18p11.31	peptidylprolyl isomerase A pseudogene 14	-
PPIAP2	chr20	25368275	25368766	-	ENSG00000227379.2	processed_pseudogene	bA384D7.2	20p11.21	peptidylprolyl isomerase A pseudogene 2	-
PPIAP3	chr20	37530039	37530543	+	ENSG00000235044.1	processed_pseudogene	bA425M5.2	20q11.23	peptidylprolyl isomerase A pseudogene 3	-
PPIB	chr15	64155812	64163205	-	ENSG00000166794.4	protein_coding	CYP-S1|CYPB|HEL-S-39|OI9|SCYLP	15q22.31	peptidylprolyl isomerase B	The protein encoded by this gene is a cyclosporine-binding protein and is mainly located within the endoplasmic reticulum. It is associated with the secretory pathway and released in biological fluids. This protein can bind to cells derived from T- and B-lymphocytes, and may regulate cyclosporine A-mediated immunosuppression. Variants have been identified in this protein that give rise to recessive forms of osteogenesis imperfecta. [provided by RefSeq, Oct 2009]
PPIC	chr5	123023250	123036741	-	ENSG00000168938.5	protein_coding	CYPC	5q23.2	peptidylprolyl isomerase C	The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase)) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. Similar to other PPIases, this protein can bind immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008]
PPID	chr4	158709134	158723396	-	ENSG00000171497.4	protein_coding	CYP-40|CYPD	4q32.1	peptidylprolyl isomerase D	The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein has been shown to possess PPIase activity and, similar to other family members, can bind to the immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008]
PPIE	chr1	39692182	39763914	+	ENSG00000084072.16	protein_coding	CYP-33|CYP33	1p34.2	peptidylprolyl isomerase E	The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein contains a highly conserved cyclophilin (CYP) domain as well as an RNA-binding domain. It was shown to possess PPIase and protein folding activities, and it also exhibits RNA-binding activity. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 1, has been identified. [provided by RefSeq, Aug 2010]
PPIEL	chr1	39531838	39558707	-	ENSG00000243970.1	unprocessed_pseudogene	PPIEP1	1p34.3	peptidylprolyl isomerase E like pseudogene	This transcribed pseudogene is related to PPIE (Gene ID: 10450). Expression of this pseudogene may be downregulated in non-small cell lung cancer (NSCLC). Differential DNA methylation of this locus may be associated with intellectual disability and bipolar disorder in human patients. [provided by RefSeq, Sep 2016]
PPIF	chr10	79347469	79355337	+	ENSG00000108179.13	protein_coding	CYP3|CyP-M|Cyp-D|CypD	10q22.3	peptidylprolyl isomerase F	The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is part of the mitochondrial permeability transition pore in the inner mitochondrial membrane. Activation of this pore is thought to be involved in the induction of apoptotic and necrotic cell death. [provided by RefSeq, Jul 2008]
PPIG	chr2	169584340	169641406	+	ENSG00000138398.15	protein_coding	CARS-Cyp|CYP|SCAF10|SRCyp	2q31.1	peptidylprolyl isomerase G	Ubiquitous expression in thyroid (RPKM 12.9), endometrium (RPKM 11.6) and 25 other tissues
PPIL1	chr6	36854827	36875024	-	ENSG00000137168.7	protein_coding	CGI-124|CYPL1|PCH14|PPIase|hCyPX	6p21.2	peptidylprolyl isomerase like 1	This gene is a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). The cyclophilins are a highly conserved, ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. Based on similarity to other PPIases, this protein could accelerate the folding of proteins and might catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. [provided by RefSeq, Jul 2008]
PPIL2	chr22	21666009	21700015	+	ENSG00000100023.18	protein_coding	CYC4|CYP60|Cyp-60|UBOX7|hCyP-60	22q11.21-q11.22	peptidylprolyl isomerase like 2	This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. This protein interacts with the proteinase inhibitor eglin c and is localized in the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
PPIL3	chr2	200870907	200889303	-	ENSG00000240344.8	protein_coding	CYPJ	2q33.1	peptidylprolyl isomerase like 3	This gene encodes a member of the cyclophilin family. Cyclophilins catalyze the cis-trans isomerization of peptidylprolyl imide bonds in oligopeptides. They have been proposed to act either as catalysts or as molecular chaperones in protein-folding events. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2008]
PPIL4	chr6	149504733	149546038	-	ENSG00000131013.3	protein_coding	HDCME13P	6q25.1	peptidylprolyl isomerase like 4	This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. [provided by RefSeq, Jul 2008]
PPIL6	chr6	109390215	109441171	-	ENSG00000185250.15	protein_coding	PPIase|RSPH12|bA425D10.6|dJ919F19.1	6q21	peptidylprolyl isomerase like 6	Broad expression in testis (RPKM 2.1), thyroid (RPKM 1.7) and 18 other tissues
PPIP5K1	chr15	43533462	43590253	-	ENSG00000168781.21	protein_coding	HISPPD2A|IP6K|IPS1|VIP1|hsVIP1	15q15.3	diphosphoinositol pentakisphosphate kinase 1	This gene encodes a dual functional inositol kinase. The encoded enzyme converts inositol hexakisphosphate to diphosphoinositol pentakisphosphate and diphosphoinositol pentakisphosphate to bis-diphosphoinositol tetrakisphosphate. This protein may be important for intracellular signaling pathways. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 15.[provided by RefSeq, Jun 2010]
PPIP5K2	chr5	103120149	103212799	+	ENSG00000145725.19	protein_coding	CFAP160|DFNB100|HISPPD1|IP7K2|VIP2	5q21.1	diphosphoinositol pentakisphosphate kinase 2	This gene encodes a member of the histidine acid phosphatase family of proteins. Despite containing a histidine acid phosphatase domain, the encoded protein functions as an inositol pyrophosphate kinase, and is thought to lack phosphatase activity. This kinase activity is the mechanism by which the encoded protein synthesizes high-energy inositol pyrophosphates, which act as signaling molecules that regulate cellular homeostasis and other processes. This gene may be associated with autism spectrum disorder in human patients. [provided by RefSeq, Sep 2016]
PPL	chr16	4882507	4960741	-	ENSG00000118898.15	protein_coding	-	16p13.3	periplakin	Biased expression in esophagus (RPKM 300.0) and skin (RPKM 63.7)
PPM1A	chr14	60245752	60299087	+	ENSG00000100614.17	protein_coding	PP2C-ALPHA|PP2CA|PP2Calpha	14q23.1	protein phosphatase, Mg2+/Mn2+ dependent 1A	The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase dephosphorylates, and negatively regulates the activities of, MAP kinases and MAP kinase kinases. It has been shown to inhibit the activation of p38 and JNK kinase cascades induced by environmental stresses. This phosphatase can also dephosphorylate cyclin-dependent kinases, and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to activate the expression of the tumor suppressor gene TP53/p53, which leads to G2/M cell cycle arrest and apoptosis. Three alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PPM1B	chr2	44167969	44244384	+	ENSG00000138032.20	protein_coding	PP2C-beta|PP2C-beta-X|PP2CB|PP2CBETA|PPC2BETAX	2p21	protein phosphatase, Mg2+/Mn2+ dependent 1B	The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase has been shown to dephosphorylate cyclin-dependent kinases (CDKs), and thus may be involved in cell cycle control. Overexpression of this phosphatase is reported to cause cell-growth arrest or cell death. Alternative splicing results in multiple transcript variants encoding different isoforms. Additional transcript variants have been described, but currently do not represent full-length sequences. [provided by RefSeq, Jul 2008]
PPM1D	chr17	60600183	60666280	+	ENSG00000170836.11	protein_coding	IDDGIP|JDVS|PP2C-DELTA|WIP1	17q23.2	protein phosphatase, Mg2+/Mn2+ dependent 1D	The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. [provided by RefSeq, Jul 2008]
PPM1E	chr17	58755869	58985176	+	ENSG00000175175.5	protein_coding	CAMKPN|CaMKP-N|POPX1|PP2CH|caMKN	17q22	protein phosphatase, Mg2+/Mn2+ dependent 1E	This gene encodes a member of the PPM family of serine/threonine-protein phosphatases. The encoded protein is localized to the nucleus and dephosphorylates and inactivates multiple substrates including serine/threonine-protein kinase PAK 1, 5-AMP-activated protein kinase (AMPK) and the multifunctional calcium/calmodulin-dependent protein kinases. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
PPM1F	chr22	21919420	21952837	-	ENSG00000100034.13	protein_coding	CAMKP|CaMKPase|FEM-2|POPX2|hFEM-2	22q11.22	protein phosphatase, Mg2+/Mn2+ dependent 1F	The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase can interact with Rho guanine nucleotide exchange factors (PIX), and thus block the effects of p21-activated kinase 1 (PAK), a protein kinase mediating biological effects downstream of Rho GTPases. Calcium/calmodulin-dependent protein kinase II gamma (CAMK2G/CAMK-II) is found to be one of the substrates of this phosphatase. The overexpression of this phosphatase or CAMK2G has been shown to mediate caspase-dependent apoptosis. An alternatively spliced transcript variant has been identified, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]
PPM1G	chr2	27381194	27409687	-	ENSG00000115241.10	protein_coding	PP2CG|PP2CGAMMA|PPP2CG	2p23.3	protein phosphatase, Mg2+/Mn2+ dependent 1G	The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. This phosphatase is found to be responsible for the dephosphorylation of Pre-mRNA splicing factors, which is important for the formation of functional spliceosome. Studies of a similar gene in mice suggested a role of this phosphatase in regulating cell cycle progression. [provided by RefSeq, Apr 2010]
PPM1H	chr12	62643982	62935037	-	ENSG00000111110.11	protein_coding	ARHCL1|NERPP-2C|URCC2	12q14.1-q14.2	protein phosphatase, Mg2+/Mn2+ dependent 1H	Broad expression in brain (RPKM 7.7), prostate (RPKM 6.7) and 23 other tissues
PPM1J	chr1	112709994	112715477	-	ENSG00000155367.15	protein_coding	PP2C-zeta|PP2CZ|PP2Czeta|PPP2CZ	1p13.2	protein phosphatase, Mg2+/Mn2+ dependent 1J	This gene encodes the serine/threonine protein phosphatase. The mouse homolog of this gene apparently belongs to the protein phosphatase 2C family of genes. The exact function of this gene is not yet known. [provided by RefSeq, Jul 2008]
PPM1K	chr4	88257620	88284769	-	ENSG00000163644.14	protein_coding	BDP|MSUDMV|PP2Ckappa|PP2Cm|PTMP|UG0882E07	4q22.1	protein phosphatase, Mg2+/Mn2+ dependent 1K	This gene encodes a member of the PPM family of Mn2+/Mg2+-dependent protein phosphatases. The encoded protein, essential for cell survival and development, is targeted to the mitochondria where it plays a key role in regulation of the mitochondrial permeability transition pore. [provided by RefSeq, Sep 2012]
PPM1L	chr3	160755602	161078907	+	ENSG00000163590.13	protein_coding	PP2C-epsilon|PP2CE|PPM1-LIKE	3q25.33-q26.1	protein phosphatase, Mg2+/Mn2+ dependent 1L	The protein encoded by this gene is a magnesium or manganese-requiring phosphatase that is involved in several signaling pathways. The encoded protein downregulates apoptosis signal-regulating kinase 1, a protein that initiates a signaling cascade that leads to apoptosis when cells are subjected to cytotoxic stresses. This protein also is an endoplasmic reticulum transmembrane protein that helps regulate ceramide transport from the endoplasmic reticulum to the Golgi apparatus. Finally, this gene may be involved in adiposity since it is upregulated in adipose tissues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
PPM1M	chr3	52245793	52250597	+	ENSG00000164088.17	protein_coding	PP2C-eta|PP2CE|PP2Ceta	3p21.2	protein phosphatase, Mg2+/Mn2+ dependent 1M	Ubiquitous expression in lymph node (RPKM 16.5), spleen (RPKM 14.7) and 25 other tissues
PPM1N	chr19	45488777	45502510	+	ENSG00000213889.10	protein_coding	-	19q13.32	protein phosphatase, Mg2+/Mn2+ dependent 1N (putative)	-
PPME1	chr11	74171099	74254703	+	ENSG00000214517.9	protein_coding	ABDH19|PME-1	11q13.4	protein phosphatase methylesterase 1	This gene encodes a protein phosphatase methylesterase localized to the nucleus. The encoded protein acts on the protein phosphatase-2A catalytic subunit and supports the ERK pathway through dephosphorylation of regulatory proteins. It plays a role in malignant glioma progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
PPOX	chr1	161166410	161178013	+	ENSG00000143224.17	protein_coding	PPO|V290M|VP	1q23.3	protoporphyrinogen oxidase	This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
PPP1CA	chr11	67398183	67421183	-	ENSG00000172531.14	protein_coding	PP-1A|PP1A|PP1alpha|PPP1A	11q13.2	protein phosphatase 1 catalytic subunit alpha	The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). This broadly expressed gene encodes the alpha subunit of the PP1 complex that associates with over 200 regulatory proteins to form holoenzymes which dephosphorylate their biological targets with high specificity. PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Increased PP1 activity has been observed in the end stage of heart failure. Studies suggest that PP1 is an important regulator of cardiac function and that PP1 deregulation is implicated in diabetes and multiple types of cancer. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2020]
PPP1CB	chr2	28751640	28802940	+	ENSG00000213639.9	protein_coding	HEL-S-80p|MP|NSLH2|PP-1B|PP1B|PP1beta|PP1c|PPP1CD|PPP1beta	2p23.2	protein phosphatase 1 catalytic subunit beta	The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Mouse studies suggest that PP1 functions as a suppressor of learning and memory. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PPP1CC	chr12	110719680	110742939	-	ENSG00000186298.11	protein_coding	PP-1G|PP1C|PPP1G	12q24.11	protein phosphatase 1 catalytic subunit gamma	The protein encoded by this gene belongs to the protein phosphatase family, PP1 subfamily. PP1 is an ubiquitous serine/threonine phosphatase that regulates many cellular processes, including cell division. It is expressed in mammalian cells as three closely related isoforms, alpha, beta/delta and gamma, which have distinct localization patterns. This gene encodes the gamma isozyme. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PPP1R10	chr6	30600400	30618612	-	ENSG00000204569.9	protein_coding	CAT53|FB19|PNUTS|PP1R10|R111|p99	6p21.33	protein phosphatase 1 regulatory subunit 10	This gene encodes a protein phosphatase 1 binding protein. The encoded protein plays a role in many cellular processes including cell cycle progression, DNA repair and apoptosis by regulating the activity of protein phosphatase 1. This gene lies within the major histocompatibility complex class I region on chromosome 6, and alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
PPP1R11	chr6	30066709	30070333	+	ENSG00000204619.7	protein_coding	CFAP255|HCG-V|HCGV|IPP3|TCTE5|TCTEX5	6p22.1	protein phosphatase 1 regulatory inhibitor subunit 11	This gene encodes a specific inhibitor of protein phosphatase-1 (PP1) with a differential sensitivity toward the metal-independent and metal-dependent forms of PP1. The gene is located within the major histocompatibility complex class I region on chromosome 6. [provided by RefSeq, Jul 2008]
PPP1R12A	chr12	79773563	79935460	-	ENSG00000058272.16	protein_coding	GUBS|M130|MBS|MYPT1	12q21.2-q21.31	protein phosphatase 1 regulatory subunit 12A	Myosin phosphatase target subunit 1, which is also called the myosin-binding subunit of myosin phosphatase, is one of the subunits of myosin phosphatase. Myosin phosphatase regulates the interaction of actin and myosin downstream of the guanosine triphosphatase Rho. The small guanosine triphosphatase Rho is implicated in myosin light chain (MLC) phosphorylation, which results in contraction of smooth muscle and interaction of actin and myosin in nonmuscle cells. The guanosine triphosphate (GTP)-bound, active form of RhoA (GTP.RhoA) specifically interacted with the myosin-binding subunit (MBS) of myosin phosphatase, which regulates the extent of phosphorylation of MLC. Rho-associated kinase (Rho-kinase), which is activated by GTP. RhoA, phosphorylated MBS and consequently inactivated myosin phosphatase. Overexpression of RhoA or activated RhoA in NIH 3T3 cells increased phosphorylation of MBS and MLC. Thus, Rho appears to inhibit myosin phosphatase through the action of Rho-kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]
PPP1R13B	chr14	103733752	103847590	-	ENSG00000088808.16	protein_coding	ASPP1|p53BP2-like|p85	14q32.33	protein phosphatase 1 regulatory subunit 13B	This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [provided by RefSeq, Jul 2008]
PPP1R13B-DT	chr14	 103847721	103858049	+	ENSG00000258735	ncRNA	HITT|LINC00637	14q32.33	PPP1R13B divergent transcript	-
PPP1R13L	chr19	45379634	45406349	-	ENSG00000104881.15	protein_coding	IASPP|NKIP1|RAI|RAI4	19q13.32	protein phosphatase 1 regulatory subunit 13 like	IASPP is one of the most evolutionarily conserved inhibitors of p53 (TP53; MIM 191170), whereas ASPP1 (MIM 606455) and ASPP2 (MIM 602143) are activators of p53.[supplied by OMIM, Mar 2008]
PPP1R14A	chr19	38251237	38256591	-	ENSG00000167641.10	protein_coding	CPI-17|CPI17|PPP1INL	19q13.2	protein phosphatase 1 regulatory inhibitor subunit 14A	The protein encoded by this gene belongs to the protein phosphatase 1 (PP1) inhibitor family. This protein is an inhibitor of smooth muscle myosin phosphatase, and has higher inhibitory activity when phosphorylated. Inhibition of myosin phosphatase leads to increased myosin phosphorylation and enhanced smooth muscle contraction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Sep 2011]
PPP1R14B	chr11	64244480	64246941	-	ENSG00000173457.10	protein_coding	PHI-1|PLCB3N|PNG|SOM172	11q13.1	protein phosphatase 1 regulatory inhibitor subunit 14B	Ubiquitous expression in skin (RPKM 28.9), appendix (RPKM 28.1) and 25 other tissues
PPP1R14D	chr15	40815445	40828709	-	ENSG00000166143.9	protein_coding	CPI17-like|GBPI-1|GBPI1	15q15.1	protein phosphatase 1 regulatory inhibitor subunit 14D	Protein phosphatase-1 (PP1; see MIM 176875) is a major cellular phosphatase that reverses serine/threonine protein phosphorylation. PPP1R14D is a PP1 inhibitor that itself is regulated by phosphorylation (Liu et al., 2004 [PubMed 12974676]).[supplied by OMIM, Feb 2010]
PPP1R15A	chr19	48872392	48876057	+	ENSG00000087074.7	protein_coding	GADD34	19q13.33	protein phosphatase 1 regulatory subunit 15A	This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation. [provided by RefSeq, Jul 2008]
PPP1R16A	chr8	144477969	144502121	+	ENSG00000160972.9	protein_coding	MYPT3	8q24.3	protein phosphatase 1 regulatory subunit 16A	Myosin light chain kinase and phosphatase (MLCP) complexes control the phosphorylation states of regulatory myosin light chains, which is crucial for muscle and intracellular movement. MLCPs typically contain a catalytic protein phosphatase 1 (PP1c) subunit, a myosin phosphatase targeting (MYPT) subunit, and another smaller subunit. The protein encoded by this gene represents an MYPT subunit, which is responsible for directing PP1c to its intended targets. However, while the phosphorylation of other MYPT members results in PP1c inactivation, phosphorylation of the encoded protein by protein kinase A results in PP1c activation. [provided by RefSeq, Jan 2020]
PPP1R16B	chr20	38805705	38923024	+	ENSG00000101445.9	protein_coding	ANKRD4|TIMAP	20q11.23	protein phosphatase 1 regulatory subunit 16B	The protein encoded by this gene is membrane-associated and contains five ankyrin repeats, a protein phosphatase-1-interacting domain, and a carboxy-terminal CAAX box domain. Synthesis of the encoded protein is inhibited by transforming growth factor beta-1. The protein may bind to the membrane through its CAAX box domain and may act as a signaling molecule through interaction with protein phosphatase-1. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]
PPP1R18	chr6	30676389	30687895	-	ENSG00000146112.11	protein_coding	HKMT1098|KIAA1949	6p21.33	protein phosphatase 1 regulatory subunit 18	Protein phosphatase-1 (PP1; see MIM 176875) interacts with regulatory subunits that target the enzyme to different cellular locations and change its activity toward specific substrates. Phostensin is a regulatory subunit that targets PP1 to F-actin (see MIM 102610) cytoskeleton (Kao et al., 2007 [PubMed 17374523]).[supplied by OMIM, Mar 2008]
PPP1R1A	chr12	54575387	54588659	-	ENSG00000135447.16	protein_coding	I1|IPP1	12q13.2	protein phosphatase 1 regulatory inhibitor subunit 1A	Predicted to enable protein serine/threonine phosphatase inhibitor activity. Predicted to be involved in intracellular signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
PPP1R1B	chr17	39626740	39636626	+	ENSG00000131771.13	protein_coding	DARPP-32|DARPP32	17q12	protein phosphatase 1 regulatory inhibitor subunit 1B	This gene encodes a bifunctional signal transduction molecule. Dopaminergic and glutamatergic receptor stimulation regulates its phosphorylation and function as a kinase or phosphatase inhibitor. As a target for dopamine, this gene may serve as a therapeutic target for neurologic and psychiatric disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PPP1R1C	chr2	181954241	182131398	+	ENSG00000150722.10	protein_coding	IPP5	2q31.3-q32.1	protein phosphatase 1 regulatory inhibitor subunit 1C	Protein phosphatase-1 (PP1) is a major serine/threonine phosphatase that regulates a variety of cellular functions. PP1 consists of a catalytic subunit (see PPP1CA; MIM 176875) and regulatory subunits that determine the subcellular localization of PP1 or regulate its function. PPP1R1C belongs to a group of PP1 inhibitory subunits that are themselves regulated by phosphorylation (Wang et al., 2008 [PubMed 18310074]).[supplied by OMIM, Feb 2010]
PPP1R2	chr3	195514425	195543386	-	ENSG00000184203.7	protein_coding	IPP-2|IPP2|PPP1R2A	3q29	protein phosphatase 1 regulatory inhibitor subunit 2	Protein phosphatase-1 (PP1) is one of the main eukaryotic serine/threonine phosphatases. The protein encoded by this gene binds to the catalytic subunit of PP1, strongly inhibiting its activity. Ten related pseudogenes have been found throughout the human genome. Several splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PPP1R21	chr2	48440598	48515391	+	ENSG00000162869.15	protein_coding	CCDC128|KLRAQ1|NEDHFBA	2p16.3	protein phosphatase 1 regulatory subunit 21	Ubiquitous expression in thyroid (RPKM 15.5), kidney (RPKM 15.1) and 25 other tissues
PPP1R26	chr9	135479079	135488893	+	ENSG00000196422.10	protein_coding	KIAA0649|NRBE3	9q34.3	protein phosphatase 1 regulatory subunit 26	Ubiquitous expression in brain (RPKM 4.1), kidney (RPKM 3.8) and 24 other tissues
PPP1R26P1	chr13	48316863	48320475	-	ENSG00000238086.5	processed_pseudogene	KIAA0649P1	13q14.2	protein phosphatase 1 regulatory subunit 26 pseudogene 1	-
PPP1R27	chr17	81833492	81835050	-	ENSG00000182676.4	protein_coding	DYSFIP1	17q25.3	protein phosphatase 1 regulatory subunit 27	Biased expression in prostate (RPKM 3.7), esophagus (RPKM 0.9) and 3 other tissues
PPP1R2P1	chr6	32879171	32879848	-	ENSG00000234515.1	transcribed_processed_pseudogene	IPP-2P|PPP1R2P	6p21.32	protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 1	Predicted to enable protein phosphatase inhibitor activity. Predicted to be involved in regulation of phosphoprotein phosphatase activity. [provided by Alliance of Genome Resources, Apr 2022]
PPP1R2P5	chr2	106940880	106941482	-	ENSG00000229360.1	processed_pseudogene	-	2q12.3	protein phosphatase 1 regulatory inhibitor subunit 2 pseudogene 5	-
PPP1R32	chr11	61481120	61490931	+	ENSG00000162148.10	protein_coding	C11orf66|IIIG9	11q12.2	protein phosphatase 1 regulatory subunit 32	Biased expression in testis (RPKM 29.1) and lung (RPKM 2.8)
PPP1R35	chr7	100435282	100436565	-	ENSG00000160813.6	protein_coding	C7orf47	7q22.1	protein phosphatase 1 regulatory subunit 35	Broad expression in testis (RPKM 18.3), spleen (RPKM 14.1) and 25 other tissues
PPP1R36	chr14	64549902	64589380	+	ENSG00000165807.7	protein_coding	C14orf50	14q23.3	protein phosphatase 1 regulatory subunit 36	Biased expression in testis (RPKM 17.6), stomach (RPKM 2.2) and 4 other tissues
PPP1R37	chr19	45091396	45148077	+	ENSG00000104866.10	protein_coding	LRRC68	19q13.32	protein phosphatase 1 regulatory subunit 37	Ubiquitous expression in kidney (RPKM 8.3), brain (RPKM 8.2) and 25 other tissues
PPP1R3A	chr7	113876777	114075920	-	ENSG00000154415.7	protein_coding	GM|PP1G|PPP1R3	7q31.1	protein phosphatase 1 regulatory subunit 3A	The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targeting and regulatory subunit. This gene encodes the regulatory subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthase and glycogen phosphorylase kinase. [provided by RefSeq, Jul 2008]
PPP1R3B	chr8	9136255	9151574	-	ENSG00000173281.4	protein_coding	GL|PPP1R4|PTG	8p23.1	protein phosphatase 1 regulatory subunit 3B	This gene encodes the catalytic subunit of the serine/theonine phosphatase, protein phosphatase-1. The encoded protein is expressed in liver and skeletal muscle tissue and may be involved in regulating glycogen synthesis in these tissues. This gene may be a involved in type 2 diabetes and maturity-onset diabetes of the young. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jan 2011]
PPP1R3C	chr10	91628442	91633054	-	ENSG00000119938.8	protein_coding	PPP1R5|PTG	10q23.32	protein phosphatase 1 regulatory subunit 3C	This gene encodes a carbohydrate binding protein that is a subunit of the protein phosphatase 1 (PP1) complex. PP1 catalyzes reversible protein phosphorylation, which is important in a wide range of cellular activities. The encoded protein affects glycogen biosynthesis by activating glycogen synthase and limiting glycogen breakdown by reducing glycogen phosphorylase activity. DNA hypermethylation of this gene has been found in colorectal cancer patients. The encoded protein also interacts with the laforin protein, which is a protein tyrosine phosphatase implicated in Lafora disease. [provided by RefSeq, Sep 2016]
PPP1R3D	chr20	59936668	59940297	-	ENSG00000132825.6	protein_coding	PPP1R6	20q13.33	protein phosphatase 1 regulatory subunit 3D	Phosphorylation of serine and threonine residues in proteins is a crucial step in the regulation of many cellular functions ranging from hormonal regulation to cell division and even short-term memory. The level of phosphorylation is controlled by the opposing actions of protein kinases and protein phosphatases. Protein phosphatase 1 (PP1) is 1 of 4 major serine/threonine-specific protein phosphatases which have been identified in eukaryotic cells. PP1 associates with various regulatory subunits that dictate its subcellular localization and modulate its substrate specificity. Several subunits that target PP1 to glycogen have been identified. This gene encodes a glycogen-targeting subunit of PP1. [provided by RefSeq, Jul 2008]
PPP1R3E	chr14	23295643	23302848	-	ENSG00000235194.8	protein_coding	-	14q11.2	protein phosphatase 1 regulatory subunit 3E	-
PPP1R7	chr2	241149576	241183652	+	ENSG00000115685.14	protein_coding	SDS22	2q37.3	protein phosphatase 1 regulatory subunit 7	This gene encodes a protein subunit that regulates the activity of the serine/threonine phosphatase, protein phosphatase-1. The encoded protein is required for completion of the mitotic cycle and for targeting protein phosphatase-1 to mitotic kinetochores. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PPP1R8	chr1	27830778	27851676	+	ENSG00000117751.17	protein_coding	ARD-1|ARD1|NIPP-1|NIPP1|PRO2047	1p35.3	protein phosphatase 1 regulatory subunit 8	This gene, through alternative splicing, encodes three different isoforms. Two of the protein isoforms encoded by this gene are specific inhibitors of type 1 serine/threonine protein phosphatases and can bind but not cleave RNA. The third protein isoform lacks the phosphatase inhibitory function but is a single-strand endoribonuclease comparable to RNase E of E. coli. This isoform requires magnesium for its function and cleaves specific sites in A+U-rich regions of RNA. [provided by RefSeq, Jul 2008]
PPP1R9A	chr7	94907202	95296415	+	ENSG00000158528.11	protein_coding	NRB1|NRBI|Neurabin-I	7q21.3	protein phosphatase 1 regulatory subunit 9A	This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PPP1R9B	chr17	50133735	50150630	-	ENSG00000108819.10	protein_coding	PPP1R6|PPP1R9|SPINO|Spn	17q21.33	protein phosphatase 1 regulatory subunit 9B	This gene encodes a scaffold protein that functions as a regulatory subunit of protein phosphatase 1a. Expression of this gene is particularly high in dendritic spines, suggesting that the encoded protein may play a role in receiving signals from the central nervous system. The encoded protein has putative tumor suppressor function and decreased expression has been observed in tumors. [provided by RefSeq, Feb 2014]
PPP2CB	chr8	30774457	30814314	-	ENSG00000104695.12	protein_coding	PP2Abeta|PP2CB	8p12	protein phosphatase 2 catalytic subunit beta	This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. This gene encodes a beta isoform of the catalytic subunit. [provided by RefSeq, Mar 2010]
PPP2R1A	chr19	52190039	52229533	+	ENSG00000105568.17	protein_coding	MRD36|PP2A-Aalpha|PP2AA|PP2AAALPHA|PR65A	19q13.41	protein phosphatase 2 scaffold subunit Aalpha	This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes an alpha isoform of the constant regulatory subunit A. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
PPP2R1B	chr11	111726908	111766427	-	ENSG00000137713.15	protein_coding	PP2A-Abeta|PR65B	11q23.1	protein phosphatase 2 scaffold subunit Abeta	This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes a beta isoform of the constant regulatory subunit A. Mutations in this gene have been associated with some lung and colon cancers. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
PPP2R2A	chr8	26291491	26372680	+	ENSG00000221914.9	protein_coding	B55A|B55ALPHA|PR52A|PR55A|PR55alpha	8p21.2	protein phosphatase 2 regulatory subunit Balpha	The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]
PPP2R2B	chr5	146581146	147084784	-	ENSG00000156475.18	protein_coding	B55BETA|PP2AB55BETA|PP2ABBETA|PP2APR55B|PP2APR55BETA|PR2AB55BETA|PR2ABBETA|PR2APR55BETA|PR52B|PR55-BETA|PR55BETA|SCA12	5q32	protein phosphatase 2 regulatory subunit Bbeta	The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5 UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 55-78 copies in cases of SCA12. [provided by RefSeq, Jul 2016]
PPP2R2C	chr4	6320578	6563600	-	ENSG00000074211.13	protein_coding	B55-GAMMA|B55gamma|IMYPNO|IMYPNO1|PR52|PR55G	4p16.1	protein phosphatase 2 regulatory subunit Bgamma	The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B55 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PPP2R2D	chr10	131900644	131959834	+	ENSG00000175470.18	protein_coding	B55D|B55delta|MDS026	10q26.3	protein phosphatase 2 regulatory subunit Bdelta	Ubiquitous expression in pancreas (RPKM 6.3), ovary (RPKM 5.9) and 25 other tissues
PPP2R3A	chr3	135965673	136147891	+	ENSG00000073711.10	protein_coding	PPP2R3|PR130|PR72	3q22.2-q22.3	protein phosphatase 2 regulatory subunit B''alpha	This gene encodes one of the regulatory subunits of the protein phosphatase 2. Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B/PR61, and B/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B family. The B family has been further divided into subfamilies. The product of this gene belongs to the alpha subfamily of regulatory subunit B. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Jun 2010]
PPP2R3B	chrX	333963	386955	-	ENSG00000167393.17	protein_coding	NYREN8|PPP2R3L|PPP2R3LY|PR48|PR70	X;Y	protein phosphatase 2 regulatory subunit B''beta	Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2 holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B/PR61, and B/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B family. The B family has been further divided into subfamilies. The product of this gene belongs to the beta subfamily of regulatory subunit B. [provided by RefSeq, Apr 2010]
PPP2R3C	chr14	35085467	35122517	-	ENSG00000092020.10	protein_coding	C14orf10|G4-1|G5pr|GDRM|SPGF36	14q13.2	protein phosphatase 2 regulatory subunit B''gamma	This gene encodes a regulatory subunit of the serine/threonine phosphatase, protein phosphatase 2. This protein is localized to both nuclear and cytoplasmic regions depending on cell cycle phase. Homozygous conditional knockout mice for this gene exhibit reduced numbers and impaired proliferation of immune system B cells. This protein may regulate the expression of the P-glycoprotein ATP-binding cassette transporter through its phosphatase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PPP2R5A	chr1	212285537	212361863	+	ENSG00000066027.11	protein_coding	B56A|B56alpha|PR61A	1q32.3	protein phosphatase 2 regulatory subunit B'alpha	The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B56 subfamily. Alternative transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
PPP2R5B	chr11	64917553	64934473	+	ENSG00000068971.13	protein_coding	B56B|B56beta|PR61B	11q13.1	protein phosphatase 2 regulatory subunit B'beta	The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B56 subfamily. [provided by RefSeq, Jul 2008]
PPP2R5C	chr14	101761798	101927989	+	ENSG00000078304.19	protein_coding	B56G|B56gamma|PR61G	14q32.31	protein phosphatase 2 regulatory subunit B'gamma	The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a gamma isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PPP2R5D	chr6	42984499	43012342	+	ENSG00000112640.14	protein_coding	B56D|B56delta|MRD35	6p21.1	protein phosphatase 2 regulatory subunit B'delta	The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PPP2R5E	chr14	63371357	63543374	-	ENSG00000154001.13	protein_coding	B56E|B56epsilon	14q23.2	protein phosphatase 2 regulatory subunit B'epsilon	The protein encoded by this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an epsilon isoform of the regulatory subunit B56 subfamily. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
PPP3CA	chr4	101023409	101348278	-	ENSG00000138814.16	protein_coding	ACCIID|CALN|CALNA|CALNA1|CCN1|CNA1|DEE91|IECEE|IECEE1|PPP2B	4q24	protein phosphatase 3 catalytic subunit alpha	Broad expression in brain (RPKM 54.0), prostate (RPKM 42.7) and 24 other tissues
PPP3CB	chr10	73436428	73496024	-	ENSG00000107758.15	protein_coding	CALNA2|CALNB|CNA2|PP2Bbeta	10q22.2	protein phosphatase 3 catalytic subunit beta	Ubiquitous expression in brain (RPKM 40.2), fat (RPKM 17.4) and 24 other tissues
PPP3CC	chr8	22440819	22541142	+	ENSG00000120910.14	protein_coding	CALNA3|CNA3|PP2Bgamma	8p21.3	protein phosphatase 3 catalytic subunit gamma	Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit and a catalytic subunit. The protein encoded by this gene represents one of the regulatory subunits that has been found for calcineurin. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PPP3R1	chr2	68178857	68256237	-	ENSG00000221823.10	protein_coding	CALNB1|CNB|CNB1	2p14	protein phosphatase 3 regulatory subunit B, alpha	Ubiquitous expression in brain (RPKM 81.4), fat (RPKM 34.1) and 24 other tissues
PPP4C	chr16	30075978	30085377	+	ENSG00000149923.13	protein_coding	PP-X|PP4|PP4C|PPH3|PPP4|PPX	16p11.2	protein phosphatase 4 catalytic subunit	Ubiquitous expression in testis (RPKM 31.5), placenta (RPKM 25.7) and 25 other tissues
PPP4R1	chr18	9546791	9615240	-	ENSG00000154845.15	protein_coding	MEG1|PP4(Rmeg)|PP4R1	18p11.22	protein phosphatase 4 regulatory subunit 1	This gene encodes one of several alternate regulatory subunits of serine/threonine protein phosphatase 4 (PP4). The protein features multiple HEAT repeats. This protein forms a complex with PP4RC. This complex may have a distinct role from other PP4 complexes, including regulation of HDAC3 (Zhang et al., PMID: 15805470). There is also a transcribed pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
PPP4R1-AS1	chr18	9615264	9619363	+	ENSG00000263627.1	lincRNA	-	18p11.22	PPP4R1 antisense RNA 1	-
PPP4R1L	chr20	58228940	58309439	-	ENSG00000124224.16	transcribed_unprocessed_pseudogene	C20orf192|PPP4R1P1|PRO1085	20q13.32	protein phosphatase 4 regulatory subunit 1 like (pseudogene)	Ubiquitous expression in ovary (RPKM 3.1), testis (RPKM 3.1) and 24 other tissues
PPP4R2	chr3	72996785	73069199	+	ENSG00000163605.14	protein_coding	PP4R2	3p13	protein phosphatase 4 regulatory subunit 2	The protein encoded by this gene is a regulatory subunit of the serine/threonine-protein phosphatase 4 complex. In addition to being required for efficient DNA double strand break repair, this complex plays a role in organization of microtubules at centrosomes and processing of spliceosomal snRNPs. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
PPP4R3A	chr14	91457611	91510554	-	ENSG00000100796.17	protein_coding	FLFL1|KIAA2010|MSTP033|PP4R3|PP4R3A|SMEK1|smk-1|smk1	14q32.12	protein phosphatase 4 regulatory subunit 3A	Ubiquitous expression in bone marrow (RPKM 27.7), testis (RPKM 19.4) and 25 other tissues
PPP4R3B	chr2	55547292	55618880	-	ENSG00000275052.4	protein_coding	FLFL2|PP4R3B|PSY2|SMEK2|smk1	2p16.1	protein phosphatase 4 regulatory subunit 3B	Ubiquitous expression in thyroid (RPKM 19.2), lymph node (RPKM 17.8) and 25 other tissues
PPP4R4	chr14	94146128	94279735	+	ENSG00000119698.11	protein_coding	CFAP14|KIAA1622|PP4R4	14q32.12-q32.13	protein phosphatase 4 regulatory subunit 4	The protein encoded by this gene is a HEAT-like repeat-containing protein. The HEAT repeat is a tandemly repeated, 37-47 amino acid long module occurring in a number of cytoplasmic proteins. Arrays of HEAT repeats form a rod-like helical structure and appear to function as protein-protein interaction surfaces. The repeat-containing region of this protein has some similarity to the constant regulatory domain of the protein phosphatase 2A PR65/A subunit. The encoded protein binds protein serine/threonine phosphatase 4c in the cytoplasm. [provided by RefSeq, Jan 2017]
PPP5C	chr19	46346994	46392981	+	ENSG00000011485.14	protein_coding	PP5|PPP5|PPT	19q13.32	protein phosphatase 5 catalytic subunit	This gene encodes a serine/threonine phosphatase which is a member of the protein phosphatase catalytic subunit family. Proteins in this family participate in pathways regulated by reversible phosphorylation at serine and threonine residues; many of these pathways are involved in the regulation of cell growth and differentiation. The product of this gene has been shown to participate in signaling pathways in response to hormones or cellular stress, and elevated levels of this protein may be associated with breast cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
PPP5D1P	chr19	 46518679	46600916	-	ENSG00000230510	pseudogene	PPP5D1	19q13.32	PPP5 tetratricopeptide repeat domain containing 1, pseudogene	-
PPP6C	chr9	125146573	125189939	-	ENSG00000119414.11	protein_coding	PP6|PP6C	9q33.3	protein phosphatase 6 catalytic subunit	This gene encodes the catalytic subunit of protein phosphatase, a component of a signaling pathway regulating cell cycle progression. Splice variants encoding different protein isoforms exist. The pseudogene of this gene is located on chromosome X. [provided by RefSeq, Jul 2008]
PPP6R1	chr19	55229780	55258995	-	ENSG00000105063.18	protein_coding	KIAA1115|PP6R1|SAP190|SAPS1	19q13.42	protein phosphatase 6 regulatory subunit 1	Protein phosphatase regulatory subunits, such as SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]
PPP6R2	chr22	50343304	50445090	+	ENSG00000100239.15	protein_coding	KIAA0685|PP6R2|SAP190|SAPS2	22q13.33	protein phosphatase 6 regulatory subunit 2	The protein encoded by this gene is a regulatory protein for the protein phosphatase-6 catalytic subunit. Together, these proteins act as a significant T-loop phosphatase for Aurora A, an essential mitotic kinase. Loss of function of either the regulatory or catalytic subunit of protein phosphatase-6 interferes with spindle formation and chromosome alignment. [provided by RefSeq, May 2017]
PPP6R3	chr11	68460731	68615334	+	ENSG00000110075.14	protein_coding	C11orf23|PP6R3|SAP190|SAPL|SAPLa|SAPS3	11q13.2	protein phosphatase 6 regulatory subunit 3	Protein phosphatase regulatory subunits, such as SAPS3, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS3 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]
PPRC1	chr10	102132994	102150331	+	ENSG00000148840.10	protein_coding	PRC	10q24.32	PPARG related coactivator 1	The protein encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protein that can activate mitochondrial biogenesis in part through a direct interaction with nuclear respiratory factor 1 (NRF1). This protein has been shown to interact with NRF1. It is thought to be a functional relative of PPAR-gamma coactivator 1 that activates mitochondrial biogenesis through NRF1 in response to proliferative signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PPT1	chr1	40072705	40097703	-	ENSG00000131238.16	protein_coding	CLN1|INCL|PPT	1p34.2	palmitoyl-protein thioesterase 1	The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]
PPT2	chr6	32153441	32163680	+	ENSG00000221988.12	protein_coding	C6orf8|G14|PPT-2	6p21.32	palmitoyl-protein thioesterase 2	This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream EGFL8 (EGF-like-domain, multiple 8) gene. [provided by RefSeq, Feb 2011]
PPTC7	chr12	110533245	110583320	-	ENSG00000196850.5	protein_coding	TA-PP2C|TAPP2C	12q24.11	protein phosphatase targeting COQ7	Ubiquitous expression in bone marrow (RPKM 18.8), heart (RPKM 15.4) and 25 other tissues
PPWD1	chr5	65563236	65587549	+	ENSG00000113593.11	protein_coding	-	5q12.3	peptidylprolyl isomerase domain and WD repeat containing 1	-
PPY	chr17	43940804	43942468	-	ENSG00000108849.7	protein_coding	PNP|PP	17q21.31	pancreatic polypeptide	This gene encodes a member of the neuropeptide Y (NPY) family of peptides. The encoded 95 aa preproprotein is synthesized in the pancreatic islets of Langerhans and proteolytically processed to generate two peptide products. These products include the active pancreatic hormone of 36 aa and an icosapeptide of unknown function. This hormone acts as a regulator of pancreatic and gastrointestinal functions and may be important in the regulation of food intake. Plasma level of this hormone has been shown to be reduced in conditions associated with increased food intake and elevated in anorexia nervosa. In addition, infusion of this hormone in obese rodents has shown to decrease weight gain. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
PRAC2	chr17	48723168	48724758	+	ENSG00000229637.3	protein_coding	C17orf93|HOXB-AS5|HOXB13-AS1|HOXBAS5|NCRNA00253	17q21.32	PRAC2 small nuclear protein	This gene is highly expressed in prostate, rectum, colon, and testis. This gene may produce a non-coding RNA or may encode a short protein that might localize to the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PRADC1	chr2	73228006	73233238	-	ENSG00000135617.3	protein_coding	C2orf7|PAP21	2p13.2	protease associated domain containing 1	Ubiquitous expression in heart (RPKM 23.7), fat (RPKM 12.7) and 25 other tissues
PRADC1P1	chr3	36976316	36976840	+	ENSG00000236165.1	processed_pseudogene	-	3p22.2	protease associated domain containing 1 pseudogene 1	-
PRAG1	chr8	8317736	8386498	-	ENSG00000275342.4	protein_coding	NACK|PEAK2|PRAGMIN|SGK223	8p23.1	PEAK1 related, kinase-activating pseudokinase 1	This gene encodes an enzyme that belongs to the tyrosine protein kinase family. A similar protein in rat binds to Rho family GTPase 2 (Rnd2) and regulates neurite outgrowth via activation of Ras homolog gene family, member A (RhoA). [provided by RefSeq, Mar 2014]
PRAM1	chr19	8490056	8503112	-	ENSG00000133246.11	protein_coding	PML-RAR|PRAM-1	19p13.2	PML-RARA regulated adaptor molecule 1	The protein encoded by this gene is similar to FYN binding protein (FYB/SLAP-130), an adaptor protein involved in T cell receptor mediated signaling. This gene is expressed and regulated during normal myelopoiesis. The expression of this gene is induced by retinoic acid and is inhibited by the expression of PML-RARalpha, a fusion protein of promyelocytic leukemia (PML) and the retinoic acid receptor-alpha (RARalpha). [provided by RefSeq, Jul 2008]
PRAME	chr22	22547701	22559361	-	ENSG00000185686.17	protein_coding	CT130|MAPE|OIP-4|OIP4	22q11.22	PRAME nuclear receptor transcriptional regulator	This gene encodes an antigen that is preferentially expressed in human melanomas and that is recognized by cytolytic T lymphocytes. It is not expressed in normal tissues, except testis. The encoded protein acts as a repressor of retinoic acid receptor, and likely confers a growth advantage to cancer cells via this function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PRANCR	chr12	 70222190	70243360	-	ENSG00000257815	ncRNA	CNOT2-DT|LINC01481	12q15	progenitor renewal associated non-coding RNA	-
PRAP1	chr10	133347146	133352683	+	ENSG00000165828.14	protein_coding	PRO1195|UPA	10q26.3	proline rich acidic protein 1	Biased expression in small intestine (RPKM 388.5), duodenum (RPKM 348.9) and 3 other tissues
PRB1	chr12	11351823	11395566	-	ENSG00000251655.6	protein_coding	PM|PMF|PMS|PRB1L|PRB1M	12p13.2	proline rich protein BstNI subfamily 1	This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature peptides before secretion from the parotid glands. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats have been identified. The reference genome encodes the Medium allele. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Nov 2015]
PRB2	chr12	11391540	11501041	-	ENSG00000121335.11	protein_coding	IB-9|PRPPRB1|Ps|cP7	12p13.2	proline rich protein BstNI subfamily 2	This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid glands. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats, polymorphic cleavage sites and polymorphic stop codons have been identified. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, Oct 2015]
PRC1	chr15	90966038	90995629	-	ENSG00000198901.13	protein_coding	ASE1	15q26.1	protein regulator of cytokinesis 1	This gene encodes a protein that is involved in cytokinesis. The protein is present at high levels during the S and G2/M phases of mitosis but its levels drop dramatically when the cell exits mitosis and enters the G1 phase. It is located in the nucleus during interphase, becomes associated with mitotic spindles in a highly dynamic manner during mitosis, and localizes to the cell mid-body during cytokinesis. This protein has been shown to be a substrate of several cyclin-dependent kinases (CDKs). It is necessary for polarizing parallel microtubules and concentrating the factors responsible for contractile ring assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
PRC1-AS1	chr15	90966345	90988624	+	ENSG00000258725.1	antisense	-	15q26.1	PRC1 antisense RNA 1	-
PRCC	chr1	156750610	156800817	+	ENSG00000143294.14	protein_coding	RCCP1|TPRC	1q23.1	proline rich mitotic checkpoint control factor	This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion of this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell carcinoma. A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation. This fusion protein has also been associated with disruption of the cell cycle.[provided by RefSeq, Aug 2010]
PRCP	chr11	82823502	82970584	-	ENSG00000137509.10	protein_coding	HUMPCP|PCP	11q14.1	prolylcarboxypeptidase	This gene encodes a member of the peptidase S28 family of serine exopeptidases. The encoded preproprotein is proteolytically processed to generate the mature lysosomal prolylcarboxypeptidase. This enzyme cleaves C-terminal amino acids linked to proline in peptides such as angiotension II, III and des-Arg9-bradykinin. The cleavage occurs at acidic pH, but the enzyme activity is retained with some substrates at neutral pH. This enzyme has been shown to be an activator of the cell matrix-associated prekallikrein. The importance of angiotension II, one of the substrates of this enzyme, in regulating blood pressure and electrolyte balance suggests that this gene may be related to essential hypertension. A pseudogene of this gene has been identified on chromosome 2. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
PRDM1	chr6	106086320	106109939	+	ENSG00000057657.15	protein_coding	BLIMP1|PRDI-BF1	6q21	PR/SET domain 1	This gene encodes a protein that acts as a repressor of beta-interferon gene expression. The protein binds specifically to the PRDI (positive regulatory domain I element) of the beta-IFN gene promoter. Transcription of this gene increases upon virus induction. Two alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]
PRDM10	chr11	129899706	130002835	-	ENSG00000170325.14	protein_coding	PFM7|TRIS	11q24.3	PR/SET domain 10	The protein encoded by this gene is a transcription factor that contains C2H2-type zinc-fingers. It also contains a positive regulatory domain, which has been found in several other zinc-finger transcription factors including those involved in B cell differentiation and tumor suppression. Studies of the mouse counterpart suggest that this protein may be involved in the development of the central nerve system (CNS), as well as in the pathogenesis of neuronal storage disease. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PRDM11	chr11	45095806	45235110	+	ENSG00000019485.13	protein_coding	PFM8	11p11.2	PR/SET domain 11	Ubiquitous expression in thyroid (RPKM 2.3), ovary (RPKM 1.9) and 24 other tissues
PRDM16	chr1	3069168	3438621	+	ENSG00000142611.16	protein_coding	CMD1LL|KMT8F|LVNC8|MEL1|PFM13	1p36.32	PR/SET domain 16	The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PRDM16-DT	chr1	 3059617	3067725	-	ENSG00000177133	ncRNA	LINC00982|lnc-dPrdm16	1p36.32	PRDM16 divergent transcript	Biased expression in kidney (RPKM 17.6), stomach (RPKM 7.0) and 5 other tissues
PRDM2	chr1	13700198	13825079	+	ENSG00000116731.22	protein_coding	HUMHOXY1|KMT8|KMT8A|MTB-ZF|RIZ|RIZ1|RIZ2	1p36.21	PR/SET domain 2	This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a zinc finger protein that can bind to retinoblastoma protein, estrogen receptor, and the TPA-responsive element (MTE) of the heme-oxygenase-1 gene. Although the functions of this protein have not been fully characterized, it may (1) play a role in transcriptional regulation during neuronal differentiation and pathogenesis of retinoblastoma, (2) act as a transcriptional activator of the heme-oxygenase-1 gene, and (3) be a specific effector of estrogen action. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PRDM4	chr12	107732866	107761272	-	ENSG00000110851.11	protein_coding	PFM1	12q23.3	PR/SET domain 4	The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. An elevated expression level of this gene has been observed in PC12 cells treated with nerve growth factor, beta polypeptide (NGF). This gene is located in a chromosomal region that is thought to contain tumor suppressor genes. [provided by RefSeq, Jul 2008]
PRDM5	chr4	120684919	120922870	-	ENSG00000138738.10	protein_coding	BCS2|PFM2	4q27	PR/SET domain 5	The protein encoded by this gene is a transcription factor of the PR-domain protein family. It contains a PR-domain and multiple zinc finger motifs. Transcription factors of the PR-domain family are known to be involved in cell differentiation and tumorigenesis. [provided by RefSeq, Jul 2008]
PRDM6	chr5	123089121	123194266	+	ENSG00000061455.10	protein_coding	KMT8C|PDA3|PRISM	5q23.2	PR/SET domain 6	The protein encoded by this gene is a transcriptional repressor and a member of the PRDM family. Family members contain a PR domain and multiple zinc-finger domains. The encoded protein is involved in regulation of vascular smooth muscle cells (VSMC) contractile proteins. Mutations in this gene result in patent ductus arteriosus 3 (PDA3). [provided by RefSeq, Apr 2017]
PRDM7	chr16	90056566	90092072	-	ENSG00000126856.13	protein_coding	PFM4|ZNF910	16q24.3	PR/SET domain 7	This gene encodes a member of a family of proteins that may have roles in transcription and other nuclear processes. The encoded protein contains a KRAB (Kruppel-associated box) domain -A box and a SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain and may function as a histone methyltransferase. [provided by RefSeq, Aug 2013]
PRDM8	chr4	80183879	80204329	+	ENSG00000152784.15	protein_coding	EPM10|KMT8D|PFM5	4q21.21	PR/SET domain 8	This gene encodes a protein that belongs to a conserved family of histone methyltransferases that predominantly act as negative regulators of transcription. The encoded protein contains an N-terminal Su(var)3-9, Enhancer-of-zeste, and Trithorax (SET) domain and a double zinc-finger domain. Knockout of this gene in mouse results in mistargeting by neurons of the dorsal telencephalon, abnormal itch-like behavior, and impaired differentiation of rod bipolar cells. In humans, the protein has been shown to interact with the phosphatase laforin and the ubiquitin ligase malin, which regulate glycogen construction in the cytoplasm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PRDM9	chr5	23443586	23528597	+	ENSG00000164256.10	protein_coding	KMT8B|MEISETZ|MSBP3|PFM6|ZNF899	5p14.2	PR/SET domain 9	The protein encoded by this gene is a zinc finger protein with histone methyltransferase activity that catalyzes histone H3 lysine 4 trimethylation (H3K4me3) during meiotic prophase. This protein contains multiple domains, including a Kruppel-associated box (KRAB) domain, an SSX repression domain (SSXRD), a PRD1-BF1 and RIZ homologous region, a subclass of SET (PR/SET) domain, and a tandem array of C2H2 zinc fingers. The zinc finger array recognizes a short sequence motif, leading to local H3K4me3, and meiotic recombination hotspot activity. The observed allelic variation alters the DNA-binding sequence specificity of the protein, resulting in distinct meiotic recombination hotspots amongst individuals and populations. Multiple alternate alleles of this gene have been described. [provided by RefSeq, Jul 2015]
PRDX1	chr1	45511036	45523047	-	ENSG00000117450.13	protein_coding	MSP23|NKEF-A|NKEFA|PAG|PAGA|PAGB|PRX1|PRXI|TDPX2	1p34.1	peroxiredoxin 1	This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein may play an antioxidant protective role in cells, and may contribute to the antiviral activity of CD8(+) T-cells. This protein may have a proliferative effect and play a role in cancer development or progression. Four transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jan 2011]
PRDX2	chr19	12796820	12801859	-	ENSG00000167815.11	protein_coding	HEL-S-2a|NKEF-B|NKEFB|PRP|PRX2|PRXII|PTX1|TDPX1|TPX1|TSA	19p13.13	peroxiredoxin 2	This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein plays an antioxidant protective role in cells, and it may contribute to the antiviral activity of CD8(+) T-cells. The crystal structure of this protein has been resolved to 2.7 angstroms. This protein prevents hemolytic anemia from oxidative stress by stabilizing hemoglobin, thus making this gene a therapeutic target for patients with hemolytic anemia. This protein may have a proliferative effect and play a role in cancer development or progression. Related pseudogenes have been identified on chromosomes 5, 6, 10 and 13. [provided by RefSeq, Mar 2013]
PRDX2P3	chr5	179572156	179572741	+	ENSG00000249140.1	processed_pseudogene	-	5q35.3	peroxiredoxin 2 pseudogene 3	-
PRDX3	chr10	119167703	119178833	-	ENSG00000165672.6	protein_coding	AOP-1|AOP1|HBC189|MER5|PRO1748|SP-22|prx-III	10q26.11	peroxiredoxin 3	This gene encodes a mitochondrial protein with antioxidant function. The protein is similar to the C22 subunit of Salmonella typhimurium alkylhydroperoxide reductase, and it can rescue bacterial resistance to alkylhydroperoxide in E. coli that lack the C22 subunit. The human and mouse genes are highly conserved, and they map to the regions syntenic between mouse and human chromosomes. Sequence comparisons with recently cloned mammalian homologs suggest that these genes consist of a family that is responsible for the regulation of cellular proliferation, differentiation and antioxidant functions. This family member can protect cells from oxidative stress, and it can promote cell survival in prostate cancer. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 3, 13 and 22. [provided by RefSeq, Oct 2014]
PRDX3P2	chr1	28526318	28527227	-	ENSG00000231468.2	processed_pseudogene	-	1p35.3	peroxiredoxin 3 pseudogene 2	-
PRDX3P4	chr3	64174401	64175147	+	ENSG00000239926.1	processed_pseudogene	-	3p14.1	peroxiredoxin 3 pseudogene 4	-
PRDX4	chrX	23664262	23686399	+	ENSG00000123131.12	protein_coding	AOE37-2|AOE372|HEL-S-97n|PRX-4	Xp22.11	peroxiredoxin 4	 The protein encoded by this gene is an antioxidant enzyme and belongs to the peroxiredoxin family. The protein is localized to the cytoplasm. Peroxidases of the peroxiredoxin family reduce hydrogen peroxide and alkyl hydroperoxides to water and alcohol with the use of reducing equivalents derived from thiol-containing donor molecules. This protein has been found to play a regulatory role in the activation of the transcription factor NF-kappaB. [provided by RefSeq, Jul 2008]
PRDX5	chr11	64318088	64321811	+	ENSG00000126432.13	protein_coding	ACR1|AOEB166|B166|HEL-S-55|PLP|PMP20|PRDX6|PRXV|SBBI10|prx-V	11q13.1	peroxiredoxin 5	This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein interacts with peroxisome receptor 1 and plays an antioxidant protective role in different tissues under normal conditions and during inflammatory processes. The use of alternate transcription start sites is thought to result in transcript variants that use different in-frame translational start codons to generate isoforms that are targeted to the mitochondrion (isoform L) or peroxisome/cytoplasm (isoform S). Multiple related pseudogenes have been defined for this gene. [provided by RefSeq, Nov 2017]
PRDX6	chr1	173477266	173488807	+	ENSG00000117592.8	protein_coding	1-Cys|AOP2|HEL-S-128m|LPCAT-5|NSGPx|PRX|aiPLA2|p29	1q25.1	peroxiredoxin 6	The protein encoded by this gene is a member of the thiol-specific antioxidant protein family. This protein is a bifunctional enzyme with two distinct active sites. It is involved in redox regulation of the cell; it can reduce H(2)O(2) and short chain organic, fatty acid, and phospholipid hydroperoxides. It may play a role in the regulation of phospholipid turnover as well as in protection against oxidative injury. [provided by RefSeq, Jul 2008]
PREB	chr2	27130756	27134675	-	ENSG00000138073.13	protein_coding	SEC12	2p23.3	prolactin regulatory element binding	This gene encodes a protein that specifically binds to a Pit1-binding element of the prolactin (PRL) promoter. This protein may act as a transcriptional regulator and is thought to be involved in some of the developmental abnormalities observed in patients with partial trisomy 2p. This gene overlaps the abhydrolase domain containing 1 (ABHD1) gene on the opposite strand. [provided by RefSeq, Jul 2008]
PRECSIT	chr13	 110863987	110870308	-	ENSG00000255874	ncRNA	C13orf29|LINC00346|NCRNA00346	13q34	p53 regulated carcinoma associated Stat3 activating long intergenic non-protein coding transcript	-
PRELID1	chr5	177303774	177306959	+	ENSG00000169230.9	protein_coding	CGI-106|PRELI|PX19|SBBI12	5q35.3	PRELI domain containing 1	This gene encodes a member of the late embryogenesis abundant motif-containing protein family. The encoded protein is localized to mitochondria and may function as a cytoprotectant by regulating cell death and differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012]
PRELID1P1	chr6	126643488	126644390	+	ENSG00000217325.2	transcribed_processed_pseudogene	-	6q22.32	PRELID1 pseudogene 1	-
PRELID1P3	chr10	63427297	63427939	+	ENSG00000235816.3	processed_pseudogene	-	10q21.3	PRELID1 pseudogene 3	-
PRELID1P4	chr15	35121573	35122084	-	ENSG00000259592.1	processed_pseudogene	-	15q14	PRELID1 pseudogene 4	-
PRELID3B	chr20	59033145	59042909	-	ENSG00000101166.15	protein_coding	C20orf45|SLMO2|dJ543J19.5	20q13.32	PRELI domain containing 3B	Ubiquitous expression in duodenum (RPKM 48.4), small intestine (RPKM 44.2) and 25 other tissues
PRELID3BP4	chr5	42897262	42897832	-	ENSG00000251163.1	processed_pseudogene	-	5p12	PRELI domain containing 3B pseudogene 4	-
PRELID3BP7	chr5	42972624	42973092	+	ENSG00000250711.1	processed_pseudogene	-	5p12	PRELI domain containing 3B pseudogene 7	-
PREP	chr6	105277565	105403084	-	ENSG00000085377.13	protein_coding	PE|PEP	6q21	prolyl endopeptidase	The protein encoded by this gene is a cytosolic prolyl endopeptidase that cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long. Prolyl endopeptidases have been reported to be involved in the maturation and degradation of peptide hormones and neuropeptides. [provided by RefSeq, Jul 2008]
PREPL	chr2	44316281	44361862	-	ENSG00000138078.15	protein_coding	CMS22	2p21	prolyl endopeptidase like	The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010]
PREX1	chr20	48624252	48827883	-	ENSG00000124126.13	protein_coding	P-REX1	20q13.13	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1	The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs).  It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins. [provided by RefSeq, Jul 2008]
PREX2	chr8	67952118	68237030	+	ENSG00000046889.18	protein_coding	DEP.2|DEPDC2|P-REX2|PPP1R129	8q13.2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	The protein encoded by this gene belongs to the phosphatidylinositol 3,4,5-trisphosphate (PIP3)-dependent Rac exchanger (PREX) family, which are Dbl-type guanine-nucleotide exchange factors for Rac family small G proteins. Structural domains of this protein include the catalytic diffuse B-cell lymphoma homology and pleckstrin homology (DHPH) domain, two disheveled, EGL-10, and pleckstrin homology (DEP) domains, two PDZ domains, and a C-terminal inositol polyphosphate-4 phosphatase (IP4P) domain that is found in one of the isoforms. This protein facilitates the exchange of GDP for GTP on Rac1, allowing the GTP-bound Rac1 to activate downstream effectors. Studies also show that the pleckstrin homology domain of this protein interacts with the phosphatase and tensin homolog (PTEN) gene product to inhibit PTEN phosphatase activity, thus activating the phosphoinositide-3 kinase (PI3K) signaling pathway. Conversely, the PTEN gene product has also been shown to inhibit the GEF activity of this protein. This gene plays a role in insulin-signaling pathways, and either mutations or overexpression of this gene have been observed in some cancers. [provided by RefSeq, Apr 2016]
PRF1	chr10	70597348	70602775	-	ENSG00000180644.7	protein_coding	HPLH2|P1|PFP	10q22.1	perforin 1	This gene encodes a protein with structural similarities to complement component C9 that is important in immunity. This protein forms membrane pores that allow the release of granzymes and subsequent cytolysis of target cells. Whether pore formation occurs in the plasma membrane of target cells or in an endosomal membrane inside target cells is subject to debate. Mutations in this gene are associated with a variety of human disease including diabetes, multiple sclerosis, lymphomas, autoimmune lymphoproliferative syndrome (ALPS), aplastic anemia, and familial hemophagocytic lymphohistiocytosis type 2 (FHL2), a rare and lethal autosomal recessive disorder of early childhood. [provided by RefSeq, Aug 2017]
PRG2	chr11	57386794	57390657	-	ENSG00000186652.9	protein_coding	BMPG|MBP|MBP1|proMBP	11q12.1	proteoglycan 2, pro eosinophil major basic protein	The protein encoded by this gene is the predominant constituent of the crystalline core of the eosinophil granule. High levels of the proform of this protein are also present in placenta and pregnancy serum, where it exists as a complex with several other proteins including pregnancy-associated plasma protein A (PAPPA), angiotensinogen (AGT), and C3dg. This protein may be involved in antiparasitic defense mechanisms as a cytotoxin and helminthotoxin, and in immune hypersensitivity reactions. The encoded protein contains a peptide that displays potent antimicrobial activity against Gram-positive bacteria, Gram-negative bacteria, and fungi. It is directly implicated in epithelial cell damage, exfoliation, and bronchospasm in allergic diseases. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
PRH2	chr12	10929236	10932341	+	ENSG00000134551.12	protein_coding	PRP-1/PRP-2|Pr|pr1/Pr2	12p13.2	proline rich protein HaeIII subfamily 2	This gene encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid and submandibular/sublingual glands. In western population this locus is commonly biallelic and encodes proline-rich protein (PRP) isoforms, PRP-1 and PRP-2. The reference genome encodes the PRP-1 allele. Certain alleles of this gene are associated with susceptibility to dental caries. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, Oct 2015]
PRICKLE1	chr12	42456757	42590355	-	ENSG00000139174.11	protein_coding	EPM1B|RILP	12q12	prickle planar cell polarity protein 1	This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2009]
PRICKLE4	chr6	41780762	41787372	+	ENSG00000278224.5	protein_coding	C6orf49|OBTP|OEBT|TOMM6	6p21.1	prickle planar cell polarity protein 4	C6ORF49 is a member of the LIM domain protein family (Teufel et al., 2005 [PubMed 15702247]).[supplied by OMIM, Mar 2008]
PRIM1	chr12	56731596	56752373	-	ENSG00000198056.13	protein_coding	p49	12q13.3	DNA primase subunit 1	The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit. [provided by RefSeq, Jul 2008]
PRIM2	chr6	57314805	57646849	+	ENSG00000146143.17	protein_coding	PRIM2A|p58	6p11.2	DNA primase subunit 2	This gene encodes the 58 kilodalton subunit of DNA primase, an enzyme that plays a key role in the replication of DNA. The encoded protein forms a heterodimer with a 49 kilodalton subunit. This heterodimer functions as a DNA-directed RNA polymerase to synthesize small RNA primers that are used to create Okazaki fragments on the lagging strand of the DNA. Alternative splicing of this gene results in multiple transcript variants. This gene has a related pseudogene, which is also present on chromosome 6. [provided by RefSeq, Apr 2014]
PRKAA1	chr5	40759379	40798374	-	ENSG00000132356.11	protein_coding	AMPK|AMPK alpha 1|AMPKa1	5p13.1	protein kinase AMP-activated catalytic subunit alpha 1	The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PRKAA2	chr1	56645322	56715335	+	ENSG00000162409.10	protein_coding	AMPK|AMPK2|AMPKa2|PRKAA	1p32.2	protein kinase AMP-activated catalytic subunit alpha 2	The protein encoded by this gene is a catalytic subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. Studies of the mouse counterpart suggest that this catalytic subunit may control whole-body insulin sensitivity and is necessary for maintaining myocardial energy homeostasis during ischemia. [provided by RefSeq, Jul 2008]
PRKAB1	chr12	119667753	119681630	+	ENSG00000111725.10	protein_coding	AMPK|HAMPKb	12q24.23	protein kinase AMP-activated non-catalytic subunit beta 1	The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. The myristoylation and phosphorylation of this subunit have been shown to affect the enzyme activity and cellular localization of AMPK. This subunit may also serve as an adaptor molecule mediating the association of the AMPK complex. [provided by RefSeq, Jul 2008]
PRKAB2	chr1	147155106	147172550	-	ENSG00000131791.7	protein_coding	-	1q21.1	protein kinase AMP-activated non-catalytic subunit beta 2	Ubiquitous expression in duodenum (RPKM 16.7), liver (RPKM 11.0) and 25 other tissues
PRKACA	chr19	14091688	14118084	-	ENSG00000072062.13	protein_coding	CAFD1|PKACA|PPNAD4	19p13.12	protein kinase cAMP-activated catalytic subunit alpha	This gene encodes one of the catalytic subunits of protein kinase A, which exists as a tetrameric holoenzyme with two regulatory subunits and two catalytic subunits, in its inactive form. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. cAMP-dependent phosphorylation of proteins by protein kinase A is important to many cellular processes, including differentiation, proliferation, and apoptosis. Constitutive activation of this gene caused either by somatic mutations, or genomic duplications of regions that include this gene, have been associated with hyperplasias and adenomas of the adrenal cortex and are linked to corticotropin-independent Cushings syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. Tissue-specific isoforms that differ at the N-terminus have been described, and these isoforms may differ in the post-translational modifications that occur at the N-terminus of some isoforms. [provided by RefSeq, Jan 2015]
PRKACB	chr1	84078062	84238498	+	ENSG00000142875.19	protein_coding	CAFD2|PKA C-beta|PKACB	1p31.1	protein kinase cAMP-activated catalytic subunit beta	The protein encoded by this gene is a member of the serine/threonine protein kinase family. The encoded protein is a catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase, which mediates signalling though cAMP. cAMP signaling is important to a number of processes, including cell proliferaton and differentiation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2014]
PRKACG	chr9	69012529	69014113	-	ENSG00000165059.7	protein_coding	BDPLT19|KAPG|PKACg	9q21.11	protein kinase cAMP-activated catalytic subunit gamma	Cyclic AMP-dependent protein kinase (PKA) consists of two catalytic subunits and a regulatory subunit dimer. This gene encodes the gamma form of its catalytic subunit. The gene is intronless and is thought to be a retrotransposon derived from the gene for the alpha form of the PKA catalytic subunit. [provided by RefSeq, Jul 2008]
PRKAG1	chr12	49002274	49019197	-	ENSG00000181929.11	protein_coding	AMPKG	12q13.12	protein kinase AMP-activated non-catalytic subunit gamma 1	The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PRKAG2	chr7	151556111	151877125	-	ENSG00000106617.13	protein_coding	AAKG|AAKG2|CMH6|H91620p|WPWS	7q36.1	protein kinase AMP-activated non-catalytic subunit gamma 2	AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2015]
PRKAG3	chr2	218822383	218832086	-	ENSG00000115592.11	protein_coding	AMPKG3|SMGMQTL	2q35	protein kinase AMP-activated non-catalytic subunit gamma 3	The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. It is dominantly expressed in skeletal muscle. Studies of the pig counterpart suggest that this subunit may play a key role in the regulation of energy metabolism in skeletal muscle. [provided by RefSeq, Jul 2008]
PRKAR1A	chr17	68511780	68551319	+	ENSG00000108946.14	protein_coding	ACRDYS1|ADOHR|CAR|CNC|CNC1|PKR1|PPNAD1|PRKAR1|TSE1	17q24.2	protein kinase cAMP-dependent type I regulatory subunit alpha	cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013]
PRKAR1B	chr7	549197	727650	-	ENSG00000188191.14	protein_coding	PRKAR1	7p22.3	protein kinase cAMP-dependent type I regulatory subunit beta	The protein encoded by this gene is a regulatory subunit of cyclic AMP-dependent protein kinase A (PKA), which is involved in the signaling pathway of the second messenger cAMP. Two regulatory and two catalytic subunits form the PKA holoenzyme, disbands after cAMP binding. The holoenzyme is involved in many cellular events, including ion transport, metabolism, and transcription. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2015]
PRKAR2A	chr3	48744597	48847846	-	ENSG00000114302.15	protein_coding	PKR2|PRKAR2	3p21.31	protein kinase cAMP-dependent type II regulatory subunit alpha	cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. It may interact with various A-kinase anchoring proteins and determine the subcellular localization of cAMP-dependent protein kinase. This subunit has been shown to regulate protein transport from endosomes to the Golgi apparatus and further to the endoplasmic reticulum (ER). [provided by RefSeq, Jul 2008]
PRKAR2A-AS1	chr3	48847572	48851981	+	ENSG00000224424.7	antisense	-	3p21.31	PRKAR2A antisense RNA 1	-
PRKAR2B	chr7	107044649	107161811	+	ENSG00000005249.12	protein_coding	PRKAR2|RII-BETA	7q22.3	protein kinase cAMP-dependent type II regulatory subunit beta	cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. The protein encoded by this gene is one of the regulatory subunits. This subunit can be phosphorylated by the activated catalytic subunit. This subunit has been shown to interact with and suppress the transcriptional activity of the cAMP responsive element binding protein 1 (CREB1) in activated T cells. Knockout studies in mice suggest that this subunit may play an important role in regulating energy balance and adiposity. The studies also suggest that this subunit may mediate the gene induction and cataleptic behavior induced by haloperidol. [provided by RefSeq, Jul 2008]
PRKCA	chr17	66302636	66810743	+	ENSG00000154229.11	protein_coding	AAG6|PKC-alpha|PKCA|PKCI+/-|PKCalpha|PRKACA	17q24.2	protein kinase C alpha	Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq, Jul 2008]
PRKCB	chr16	23836001	24220611	+	ENSG00000166501.12	protein_coding	PKC-beta|PKCB|PKCI(2)|PKCbeta|PRKCB1|PRKCB2	16p12.2-p12.1	protein kinase C beta	Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sugar absorption. Studies in mice also suggest that this kinase may also regulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PRKCD	chr3	53156009	53192717	+	ENSG00000163932.13	protein_coding	ALPS3|CVID9|MAY1|PKCD|nPKC-delta	3p21.1	protein kinase C delta	The protein encoded by this gene is a member of the protein kinase C family of serine- and threonine-specific protein kinases. The encoded protein is activated by diacylglycerol and is both a tumor suppressor and a positive regulator of cell cycle progression. Also, this protein can positively or negatively regulate apoptosis. Defects in this gene are a cause of autoimmune lymphoproliferative syndrome. [provided by RefSeq, Aug 2017]
PRKCE	chr2	45651345	46187990	+	ENSG00000171132.13	protein_coding	PKCE|nPKC-epsilon	2p21	protein kinase C epsilon	Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been shown to be involved in many different cellular functions, such as neuron channel activation, apoptosis, cardioprotection from ischemia, heat shock response, as well as insulin exocytosis. Knockout studies in mice suggest that this kinase is important for lipopolysaccharide (LPS)-mediated signaling in activated macrophages and may also play a role in controlling anxiety-like behavior. [provided by RefSeq, Jul 2008]
PRKCH	chr14	61187559	61550976	+	ENSG00000027075.14	protein_coding	PKC-L|PKCL|PRKCL|nPKC-eta	14q23.1	protein kinase C eta	Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can regulate keratinocyte differentiation by activating the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targets CCAAT/enhancer-binding protein alpha (CEBPA). It is also found to mediate the transcription activation of the transglutaminase 1 (TGM1) gene. Mutations in this gene are associated with susceptibility to cerebral infarction. [provided by RefSeq, Sep 2015]
PRKCI	chr3	170222365	170305981	+	ENSG00000163558.12	protein_coding	DXS1179E|PKCI|nPKC-iota	3q26.2	protein kinase C iota	This gene encodes a member of the protein kinase C (PKC) family of serine/threonine protein kinases. The PKC family comprises at least eight members, which are differentially expressed and are involved in a wide variety of cellular processes. This protein kinase is calcium-independent and phospholipid-dependent. It is not activated by phorbolesters or diacylglycerol. This kinase can be recruited to vesicle tubular clusters (VTCs) by direct interaction with the small GTPase RAB2, where this kinase phosphorylates glyceraldehyde-3-phosphate dehydrogenase (GAPD/GAPDH) and plays a role in microtubule dynamics in the early secretory pathway. This kinase is found to be necessary for BCL-ABL-mediated resistance to drug-induced apoptosis and therefore protects leukemia cells against drug-induced apoptosis. There is a single exon pseudogene mapped on chromosome X. [provided by RefSeq, Jul 2008]
PRKCQ	chr10	6427143	6580301	-	ENSG00000065675.14	protein_coding	PRKCT|nPKC-theta	10p15.1	protein kinase C theta	Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipid-dependent protein kinase. This kinase is important for T-cell activation. It is required for the activation of the transcription factors NF-kappaB and AP-1, and may link the T cell receptor (TCR) signaling complex to the activation of the transcription factors. [provided by RefSeq, Jul 2008]
PRKCQ-AS1	chr10	6580419	6616452	+	ENSG00000237943.6	processed_transcript	-	10p15.1	PRKCQ antisense RNA 1	-
PRKCSH	chr19	11435288	11450968	+	ENSG00000130175.9	protein_coding	AGE-R2|G19P1|GIIB|PCLD|PCLD1|PKCSH|PLD1|VASAP-60	19p13.2	protein kinase C substrate 80K-H	This gene encodes the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum. The encoded protein is an acidic phosphoprotein known to be a substrate for protein kinase C. Mutations in this gene have been associated with the autosomal dominant polycystic liver disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PRKCZ	chr1	2050470	2185395	+	ENSG00000067606.16	protein_coding	PKC-ZETA|PKC2	1p36.33	protein kinase C zeta	Protein kinase C (PKC) zeta is a member of the PKC family of serine/threonine kinases which are involved in a variety of cellular processes such as proliferation, differentiation and secretion. Unlike the classical PKC isoenzymes which are calcium-dependent, PKC zeta exhibits a kinase activity which is independent of calcium and diacylglycerol but not of phosphatidylserine. Furthermore, it is insensitive to typical PKC inhibitors and cannot be activated by phorbol ester. Unlike the classical PKC isoenzymes, it has only a single zinc finger module. These structural and biochemical properties indicate that the zeta subspecies is related to, but distinct from other isoenzymes of PKC. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PRKCZ-AS1	chr1	2181794	2184389	-	ENSG00000182873.5	antisense	-	1p36.33	PRKCZ antisense RNA 1	-
PRKD1	chr14	29576479	30191898	-	ENSG00000184304.14	protein_coding	CHDED|PKC-MU|PKCM|PKD|PRKCM	14q12	protein kinase D1	The protein encoded by this gene is a serine/threonine protein kinase involved in many cellular processes, including Golgi body membrane integrity and transport, cell migration and differentiation, MAPK8/JNK1 and Ras pathway signaling, MAPK1/3 (ERK1/2) pathway signaling, cell survival, and regulation of cell shape and adhesion. [provided by RefSeq, Jan 2017]
PRKD2	chr19	46674275	46717127	-	ENSG00000105287.12	protein_coding	HSPC187|PKD2|nPKC-D2	19q13.32	protein kinase D2	The protein encoded by this gene belongs to the protein kinase D (PKD) family of serine/threonine protein kinases. This kinase can be activated by phorbol esters as well as by gastrin via the cholecystokinin B receptor (CCKBR) in gastric cancer cells. It can bind to diacylglycerol (DAG) in the trans-Golgi network (TGN) and may regulate basolateral membrane protein exit from TGN. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PRKD3	chr2	37250502	37324808	-	ENSG00000115825.9	protein_coding	EPK2|PKC-NU|PKD3|PRKCN|nPKC-NU	2p22.2	protein kinase D3	This gene belongs to the multigene protein kinase D family of serine/threonine kinases, which bind diacylglycerol and phorbol esters. Members of this family are characterized by an N-terminal regulatory domain comprised of a tandem repeat of cysteine-rich zinc-finger motifs and a pleckstrin domain. The C-terminal region contains the catalytic domain and is distantly related to calcium-regulated kinases. Catalytic activity of this enzyme promotes its nuclear localization. This protein has been implicated in a variety of functions including negative regulation of human airway epithelial barrier formation, growth regulation of breast and prostate cancer cells, and vesicle trafficking. [provided by RefSeq, Jan 2015]
PRKDC	chr8	47773108	47960183	-	ENSG00000253729.7	protein_coding	DNA-PKC|DNA-PKcs|DNAPK|DNAPKc|DNPK1|HYRC|HYRC1|IMD26|XRCC7|p350	8q11.21	protein kinase, DNA-activated, catalytic subunit	This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010]
PRKG1	chr10	50991358	52298350	+	ENSG00000185532.15	protein_coding	AAT8|PKG|PKG1|PRKG1B|PRKGR1B|cGK|cGK 1|cGK1|cGKI|cGKI-BETA|cGKI-alpha	10q11.23-q21.1	protein kinase cGMP-dependent 1	Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are important components of many signal transduction processes in diverse cell types. This PRKG1 gene on human chromosome 10 encodes the soluble Ialpha and Ibeta isoforms of PRKG by alternative transcript splicing. A separate gene on human chromosome 4, PRKG2, encodes the membrane-bound PRKG isoform II. The PRKG1 proteins play a central role in regulating cardiovascular and neuronal functions in addition to relaxing smooth muscle tone, preventing platelet aggregation, and modulating cell growth. This gene is most strongly expressed in all types of smooth muscle, platelets, cerebellar Purkinje cells, hippocampal neurons, and the lateral amygdala. Isoforms Ialpha and Ibeta have identical cGMP-binding and catalytic domains but differ in their leucine/isoleucine zipper and autoinhibitory sequences and therefore differ in their dimerization substrates and kinase enzyme activity. [provided by RefSeq, Sep 2011]
PRKG2	chr4	81087370	81215117	-	ENSG00000138669.9	protein_coding	PKG2|PRKGR2|cGK2|cGKII	4q21.21	protein kinase cGMP-dependent 2	This gene encodes a protein that belongs to the serine/threonine protein kinase family of proteins. The encoded protein binds to and inhibits the activation of several receptor tyrosine kinases. The membrane-bound protein is a regulator of intestinal secretion, bone growth and renin secretion. Alternate splicing results in multiple transcript variants encoding distinct isoforms whose regulatory N-termini differ in length but whose C-terminal catalytic domains are identical. [provided by RefSeq, May 2018]
PRKN	chr6	 161347417	162727766	-	ENSG00000185345	protein-coding	AR-JP|LPRS2|PARK2|PDJ	6q26	parkin RBR E3 ubiquitin protein ligase	The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008]
PRKRA	chr2	178431414	178451512	-	ENSG00000180228.12	protein_coding	DYT16|HSD14|PACT|RAX	2q31.2	protein activator of interferon induced protein kinase EIF2AK2	This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
PRKRIP1	chr7	102363872	102426676	+	ENSG00000128563.13	protein_coding	C114|KRBOX3	7q22.1	PRKR interacting protein 1	Ubiquitous expression in testis (RPKM 12.5), lymph node (RPKM 10.7) and 25 other tissues
PRKXP1	chr15	100553529	100558954	-	ENSG00000259205.2	processed_pseudogene	-	15q26.3	PRKX pseudogene 1	-
PRLH	chr2	237566574	237567175	+	ENSG00000071677.1	protein_coding	PRH|PRRP	2q37.3	prolactin releasing hormone	Low expression observed in reference dataset
PRLHR	chr10	118589989	118595699	-	ENSG00000119973.5	protein_coding	GPR10|GR3|PrRPR	10q26.11	prolactin releasing hormone receptor	PRLHR is a 7-transmembrane domain receptor for prolactin-releasing hormone (PRLH; MIM 602663) that is highly expressed in anterior pituitary (Ozawa et al., 2002 [PubMed 11923475]).[supplied by OMIM, Mar 2008]
PRLR	chr5	35048756	35230589	-	ENSG00000113494.16	protein_coding	HPRL|MFAB|RI-PRLR|hPRLrI	5p13.2	prolactin receptor	This gene encodes a receptor for the anterior pituitary hormone, prolactin, and belongs to the type I cytokine receptor family. Prolactin-dependent signaling occurs as the result of ligand-induced dimerization of the prolactin receptor. Several alternatively spliced transcript variants encoding different membrane-bound and soluble isoforms have been described for this gene, which may function to modulate the endocrine and autocrine effects of prolactin in normal tissue and cancer. [provided by RefSeq, Feb 2011]
PRM1	chr16	11280836	11281350	-	ENSG00000175646.3	protein_coding	CT94.1|P1	16p13.13	protamine 1	Restricted expression toward testis (RPKM 2212.7)
PRM2	chr16	11275639	11276480	-	ENSG00000122304.10	protein_coding	CT94.2	16p13.13	protamine 2	Protamines substitute for histones in the chromatin of sperm during the haploid phase of spermatogenesis, and are the major DNA-binding proteins in the nucleus of sperm in many vertebrates. They package the sperm DNA into a highly condensed complex in a volume less than 5% of a somatic cell nucleus. Many mammalian species have only one protamine (protamine 1); however, a few species, including human and mouse, have two. This gene encodes protamine 2, which is cleaved to give rise to a family of protamine 2 peptides. Alternatively spliced transcript variants have also been found for this gene. [provided by RefSeq, Sep 2015]
PRM3	chr16	11273218	11273641	-	ENSG00000178257.3	protein_coding	-	16p13.13	protamine 3	-
PRMT1P1	chr5	177265580	177266588	-	ENSG00000270706.1	processed_pseudogene	-	5q35.3	protein arginine methyltransferase 1 pseudogene 1	-
PRMT2	chr21	46635167	46665124	+	ENSG00000160310.17	protein_coding	HRMT1L1	21q22.3	protein arginine methyltransferase 2	Ubiquitous expression in ovary (RPKM 11.6), spleen (RPKM 8.9) and 25 other tissues
PRMT3	chr11	20387530	20509294	+	ENSG00000185238.12	protein_coding	HRMT1L3	11p15.1	protein arginine methyltransferase 3	This gene belongs to the protein arginine methyltransferase (PRMT) family. The encoded enzyme catalyzes the methylation of guanidino nitrogens of arginyl residues of proteins. The enzyme acts on 40S ribosomal protein S2 (rpS2), which is its major in-vivo substrate, and is involved in the proper maturation of the 80S ribosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PRMT5	chr14	22920511	22929585	-	ENSG00000100462.15	protein_coding	HRMT1L5|HSL7|IBP72|JBP1|SKB1|SKB1Hs	14q11.2	protein arginine methyltransferase 5	This gene encodes an enzyme that belongs to the methyltransferase family. The encoded protein catalyzes the transfer of methyl groups to the amino acid arginine, in target proteins that include histones, transcriptional elongation factors and the tumor suppressor p53. This gene plays a role in several cellular processes, including transcriptional regulation, and the assembly of small nuclear ribonucleoproteins. A pseudogene of this gene has been defined on chromosome 4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PRMT5-AS1	chr14	22918947	22926900	+	ENSG00000237054.9	antisense	-	14q11.2	PRMT5 antisense RNA 1	-
PRMT6	chr1	107056679	107059294	+	ENSG00000198890.7	protein_coding	HRMT1L6	1p13.3	protein arginine methyltransferase 6	The protein encoded by this gene belongs to the arginine N-methyltransferase family, which catalyze the sequential transfer of methyl group from S-adenosyl-L-methionine to the side chain nitrogens of arginine residues within proteins, to form methylated arginine derivatives and S-adenosyl-L-homocysteine. This protein can catalyze both, the formation of omega-N monomethylarginine and asymmetrical dimethylarginine, with a strong preference for the latter. It specifically mediates the asymmetric dimethylation of Arg2 of histone H3, and the methylated form represents a specific tag for epigenetic transcriptional repression. This protein also forms a complex with, and methylates DNA polymerase beta, resulting in stimulation of polymerase activity by enhancing DNA binding and processivity. [provided by RefSeq, Sep 2011]
PRMT7	chr16	68310974	68358563	+	ENSG00000132600.16	protein_coding	SBIDDS	16q22.1	protein arginine methyltransferase 7	This gene encodes a member of the protein arginine N-methyltransferase family of proteins. The encoded enzyme transfers single methyl groups to arginine residues to generate monomethylarginines on histone proteins as well as other protein substrates. This enzyme plays a role in a wide range of biological processes, including neuronal differentiation, male germ line imprinting, small nuclear ribonucleoprotein biogenesis, and regulation of the Wnt signaling pathway. Mutations in this gene underlie multiple related syndromes in human patients characterized by intellectual disability, short stature and other features. The encoded protein may promote breast cancer cell invasion and metastasis in human patients. [provided by RefSeq, May 2017]
PRMT8	chr12	3381349	3593973	+	ENSG00000111218.11	protein_coding	HRMT1L3|HRMT1L4	12p13.32	protein arginine methyltransferase 8	Arginine methylation is a widespread posttranslational modification mediated by arginine methyltransferases, such as PRMT8. Arginine methylation is involved in a number of cellular processes, including DNA repair, RNA transcription, signal transduction, protein compartmentalization, and possibly protein translation (Lee et al., 2005 [PubMed 16051612]).[supplied by OMIM, Mar 2008]
PRMT9	chr4	147637785	147684230	-	ENSG00000164169.12	protein_coding	PRMT10	4q31.23	protein arginine methyltransferase 9	This gene encodes a type II methyltransferase. Post-translational modification of target proteins by PRMTs plays an important regulatory role in many biological processes, whereby PRMTs methylate arginine residues by transferring methyl groups from S-adenosyl-L-methionine to the guanidino nitrogen atoms of arginine. The protein encoded by this gene methylates spliceosome associated protein 145 to regulate alternative splicing and acts as a modulator of small nuclear ribonucleoprotein maturation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2017]
PROB1	chr5	139390592	139395713	-	ENSG00000228672.3	protein_coding	C5orf65	5q31.2	proline rich basic protein 1	-
PROC	chr2	127418427	127429246	+	ENSG00000115718.17	protein_coding	APC|PC|PROC1|THPH3|THPH4	2q14.3	protein C, inactivator of coagulation factors Va and VIIIa	This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009]
PROCA1	chr17	28703197	28711854	-	ENSG00000167525.13	protein_coding	-	17q11.2	protein interacting with cyclin A1	-
PROCR	chr20	35172073	35216240	+	ENSG00000101000.5	protein_coding	CCCA|CCD41|EPCR	20q11.22	protein C receptor	The protein encoded by this gene is a receptor for activated protein C, a serine protease activated by and involved in the blood coagulation pathway. The encoded protein is an N-glycosylated type I membrane protein that enhances the activation of protein C. Mutations in this gene have been associated with venous thromboembolism and myocardial infarction, as well as with late fetal loss during pregnancy. The encoded protein may also play a role in malarial infection and has been associated with cancer. [provided by RefSeq, Jul 2013]
PRODH	chr22	18912777	18936553	-	ENSG00000100033.16	protein_coding	HSPOX2|PIG6|POX|PRODH1|PRODH2|TP53I6	22q11.21	proline dehydrogenase 1	This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]
PROK2	chr3	71771656	71785206	-	ENSG00000163421.8	protein_coding	BV8|HH4|KAL4|MIT1|PK2	3p13	prokineticin 2	This gene encodes a protein expressed in the suprachiasmatic nucleus (SCN) circadian clock that may function as the output component of the circadian clock. The secreted form of the encoded protein may also serve as a chemoattractant for neuronal precursor cells in the olfactory bulb. Proteins from other vertebrates which are similar to this gene product were isolated based on homology to snake venom and secretions from frog skin, and have been shown to have diverse functions. Mutations in this gene are associated with Kallmann syndrome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PROM2	chr2	95274453	95291308	+	ENSG00000155066.15	protein_coding	PROML2	2q11.1	prominin 2	This gene encodes a member of the prominin family of pentaspan membrane glycoproteins. The encoded protein localizes to basal epithelial cells and may be involved in the organization of plasma membrane microdomains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PRORP	chr14	 35121839	35277622	+	ENSG00000100890.15	protein-coding	KIAA0391|MRPP3	14q13.2	protein only RNase P catalytic subunit	Ubiquitous expression in testis (RPKM 10.2), kidney (RPKM 8.4) and 25 other tissues
PROS1	chr3	93873033	93974066	-	ENSG00000184500.14	protein_coding	PROS|PS21|PS22|PS23|PS24|PS25|PSA|THPH5|THPH6	3q11.1	protein S	This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in both a free, functionally active form and also in an inactive form complexed with C4b-binding protein. Mutations in this gene result in autosomal dominant hereditary thrombophilia. An inactive pseudogene of this locus is located at an adjacent region on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015]
PROSER1	chr13	39009866	39038076	-	ENSG00000120685.19	protein_coding	C13orf23	13q13.3	proline and serine rich 1	This gene encodes a conserved protein containing proline and serine rich regions. These regions may be important in protein-protein interactions. [provided by RefSeq, Aug 2012]
PROSER2	chr10	11823339	11872277	+	ENSG00000148426.12	protein_coding	C10orf47	10p14	proline and serine rich 2	Broad expression in liver (RPKM 3.3), placenta (RPKM 2.8) and 23 other tissues
PROSER2-AS1	chr10	11849608	11894700	-	ENSG00000225778.5	antisense	-	10p14	PROSER2 antisense RNA 1	-
PROSER3	chr19	35758143	35771028	+	ENSG00000167595.14	protein_coding	C19orf55	19q13.12	proline and serine rich 3	Broad expression in testis (RPKM 6.2), appendix (RPKM 2.0) and 24 other tissues
PROX1	chr1	213983181	214041502	+	ENSG00000117707.15	protein_coding	-	1q32.3	prospero homeobox 1	Biased expression in liver (RPKM 20.2), adrenal (RPKM 5.1) and 13 other tissues
PROX1-AS1	chr1	213817751	213988508	-	ENSG00000230461.8	processed_transcript	-	1q32.3	PROX1 antisense RNA 1	-
PROX2	chr14	74852871	74871940	-	ENSG00000119608.12	protein_coding	PROX-2	14q24.3	prospero homeobox 2	Low expression observed in reference dataset
PROZ	chr13	113158654	113172383	+	ENSG00000126231.13	protein_coding	PZ	13q34	protein Z, vitamin K dependent plasma glycoprotein	This gene encodes a liver vitamin K-dependent glycoprotein that is synthesized in the liver and secreted into the plasma. The encoded protein plays a role in regulating blood coagulation by complexing with protein Z-dependent protease inhibitor to directly inhibit activated factor X at the phospholipid surface. Deficiencies in this protein are associated with an increased risk of ischemic arterial diseases and fetal loss. Mutations in this gene are the cause of protein Z deficiency. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PRPF18	chr10	13586927	13630868	+	ENSG00000165630.13	protein_coding	PRP18|hPrp18	10p13	pre-mRNA processing factor 18	Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to the yeast splicing factor Prp18. [provided by RefSeq, Jul 2008]
PRPF19	chr11	60890730	60906588	-	ENSG00000110107.8	protein_coding	NMP200|PRP19|PSO4|SNEV|UBOX4|hPSO4	11q12.2	pre-mRNA processing factor 19	PSO4 is the human homolog of yeast Pso4, a gene essential for cell survival and DNA repair (Beck et al., 2008 [PubMed 18263876]).[supplied by OMIM, Sep 2008]
PRPF3	chr1	150321476	150353195	+	ENSG00000117360.12	protein_coding	HPRP3|HPRP3P|PRP3|Prp3p|RP18|SNRNP90	1q21.2	pre-mRNA processing factor 3	The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq, Jul 2008]
PRPF31	chr19	54115410	54131719	+	ENSG00000105618.13	protein_coding	NY-BR-99|PRP31|RP11|SNRNP61	19q13.42	pre-mRNA processing factor 31	This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]
PRPF38A	chr1	52404564	52420839	+	ENSG00000134748.12	protein_coding	PRP38A|Prp38	1p32.3	pre-mRNA processing factor 38A	Ubiquitous expression in lymph node (RPKM 12.2), ovary (RPKM 11.7) and 25 other tissues
PRPF38AP2	chr10	17577362	17578212	+	ENSG00000236582.1	processed_pseudogene	-	10p12.33	PRP38 domain containing A pseudogene 2	-
PRPF38B	chr1	108692323	108701803	+	ENSG00000134186.11	protein_coding	NET1	1p13.3	pre-mRNA processing factor 38B	Ubiquitous expression in lymph node (RPKM 13.4), bone marrow (RPKM 12.6) and 25 other tissues
PRPF4	chr9	113275343	113292905	+	ENSG00000136875.12	protein_coding	HPRP4|HPRP4P|PRP4|Prp4p|RP70|SNRNP60	9q32	pre-mRNA processing factor 4	The protein encoded by this gene is part of a heteromeric complex that binds U4, U5, and U6 small nuclear RNAs and is involved in pre-mRNA splicing. The encoded protein also is a mitotic checkpoint protein and a regulator of chemoresistance in human ovarian cancer. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]
PRPF40A	chr2	152651593	152717997	-	ENSG00000196504.15	protein_coding	FBP-11|FBP11|FLAF1|FNBP3|HIP-10|HIP10|HYPA|NY-REN-6|Prp40	2q23.3	pre-mRNA processing factor 40 homolog A	Ubiquitous expression in bone marrow (RPKM 15.6), testis (RPKM 13.4) and 25 other tissues
PRPF40B	chr12	49568218	49644666	+	ENSG00000110844.13	protein_coding	HYPC	12q13.12	pre-mRNA processing factor 40 homolog B	This gene encodes a WW-domain containing protein similar to yeast splicing factor PRP40. This protein has been shown to interact with Huntingtin and methyl CpG binding protein 2 (MeCP2). Alternative splicing results in different transcript variants. [provided by RefSeq, Aug 2014]
PRPF6	chr20	63981135	64033100	+	ENSG00000101161.7	protein_coding	ANT-1|ANT1|C20orf14|Prp6|RP60|SNRNP102|TOM|U5-102K|hPrp6	20q13.33	pre-mRNA processing factor 6	The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. [provided by RefSeq, Jul 2008]
PRPF8	chr17	1650629	1684882	-	ENSG00000174231.16	protein_coding	HPRP8|PRP8|PRPC8|RP13|SNRNP220	17p13.3	pre-mRNA processing factor 8	Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]
PRPH	chr12	49293252	49298686	+	ENSG00000135406.13	protein_coding	NEF4|PRPH1	12q13.12	peripherin	This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]
PRPH2	chr6	42696600	42722574	-	ENSG00000112619.7	protein_coding	AOFMD|AVMD|CACD2|DS|MDBS1|PRPH|RDS|RP7|TSPAN22|rd2	6p21.1	peripherin 2	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]
PRPS1P2	chr9	125150653	125151589	+	ENSG00000232630.1	processed_pseudogene	PRPS1L2	9q33.3	phosphoribosyl pyrophosphate synthetase 1 pseudogene 2	-
PRPSAP1	chr17	76309486	76384521	-	ENSG00000161542.16	protein_coding	PAP39	17q25.1	phosphoribosyl pyrophosphate synthetase associated protein 1	Ubiquitous expression in thyroid (RPKM 21.2), testis (RPKM 17.1) and 25 other tissues
PRPSAP2	chr17	18840085	18931287	+	ENSG00000141127.14	protein_coding	PAP41	17p11.2	phosphoribosyl pyrophosphate synthetase associated protein 2	This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
PRR11	chr17	59155499	59204705	+	ENSG00000068489.12	protein_coding	-	17q22	proline rich 11	-
PRR12	chr19	49591643	49626439	+	ENSG00000126464.13	protein_coding	KIAA1205|NOC	19q13.33	proline rich 12	This gene encodes a proline-rich protein that contains two A-T hook DNA binding domains. A chromosomal translocation and gene fusion between this gene and zinc finger, MIZ-type containing 1 (Gene ID: 57178) may underlie intellectual disability and neuropsychiatric problems in a human patient. Enriched expression of this gene in embryonic mouse brain suggests that this gene may play a role in nervous system development. [provided by RefSeq, Jul 2016]
PRR13	chr12	53441605	53446645	+	ENSG00000205352.10	protein_coding	TXR1	12q13.13	proline rich 13	Ubiquitous expression in small intestine (RPKM 163.5), duodenum (RPKM 160.5) and 24 other tissues
PRR14	chr16	30650717	30656440	+	ENSG00000156858.11	protein_coding	-	16p11.2	proline rich 14	Ubiquitous expression in spleen (RPKM 13.5), bone marrow (RPKM 12.9) and 25 other tissues
PRR14L	chr22	31676256	31750140	-	ENSG00000183530.13	protein_coding	C22orf30	22q12.2	proline rich 14 like	Ubiquitous expression in testis (RPKM 3.6), colon (RPKM 3.5) and 25 other tissues
PRR15L	chr17	47951967	47957878	-	ENSG00000167183.2	protein_coding	ATAD4	17q21.32	proline rich 15 like	Biased expression in duodenum (RPKM 78.9), small intestine (RPKM 58.5) and 11 other tissues
PRR19	chr19	42302098	42310821	+	ENSG00000188368.9	protein_coding	-	19q13.2	proline rich 19	-
PRR22	chr19	5782960	5784765	-	ENSG00000212123.3	protein_coding	-	19p13.3	proline rich 22	-
PRR23C	chr3	139042102	139044892	-	ENSG00000233701.3	protein_coding	-	3q23	proline rich 23C	-
PRR25	chr16	805443	813861	+	ENSG00000167945.1	protein_coding	gs64	16p13.3	proline rich 25	-
PRR29	chr17	63998351	64004304	+	ENSG00000224383.7	protein_coding	C17orf72	17q23.3	proline rich 29	Broad expression in spleen (RPKM 19.8), lung (RPKM 9.2) and 19 other tissues
PRR3	chr6	30556886	30563723	+	ENSG00000204576.11	protein_coding	CAT56	6p21.33	proline rich 3	Ubiquitous expression in ovary (RPKM 9.9), brain (RPKM 7.4) and 25 other tissues
PRR33	chr11	1888577	1891895	-	ENSG00000283787.1	protein_coding	C11orf89	11p15.5	proline rich 33	-
PRR34	chr22	46049478	46054144	-	ENSG00000182257.6	protein_coding	C22orf26	22q13.31	PRR34 long non-coding RNA	Low expression observed in reference dataset
PRR34-AS1	chr22	46053705	46057210	+	ENSG00000241990.5	antisense	-	22q13.31	PRR34 antisense RNA 1	-
PRR35	chr16	560422	565528	+	ENSG00000161992.5	protein_coding	C16orf11|LA16c-366D1.2	16p13.3	proline rich 35	Restricted expression toward kidney (RPKM 3.0)
PRR36	chr19	7868719	7874379	-	ENSG00000183248.11	protein_coding	-	19p13.2	proline rich 36	Biased expression in brain (RPKM 7.2), prostate (RPKM 1.1) and 4 other tissues
PRR4	chr12	10845849	11171613	-	ENSG00000111215.11	protein_coding	LPRP|PROL4	12p13.2	proline rich 4	This gene encodes a member of the proline-rich protein family that lacks a conserved repetitive domain. This protein may play a role in protective functions in the eye. Alternative splicing result in multiple transcript variants. Read-through transcription also exists between this gene and the upstream PRH1 (proline-rich protein HaeIII subfamily 1) gene. [provided by RefSeq, Feb 2011]
PRR5	chr22	44668547	44737681	+	ENSG00000186654.20	protein_coding	FLJ20185k|PP610|PROTOR-1|PROTOR1	22q13.31	proline rich 5	This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]
PRR5L	chr11	36296288	36465204	+	ENSG00000135362.13	protein_coding	PROTOR2	11p13-p12	proline rich 5 like	Enables ubiquitin protein ligase binding activity. Involved in several processes, including TORC2 signaling; positive regulation of mRNA catabolic process; and regulation of fibroblast migration. Part of TORC2 complex. [provided by Alliance of Genome Resources, Apr 2022]
PRR7	chr5	177446445	177456286	+	ENSG00000131188.11	protein_coding	-	5q35.3	proline rich 7, synaptic	-
PRR7-AS1	chr5	177438503	177447699	-	ENSG00000246334.2	antisense	-	5q35.3	PRR7 antisense RNA 1	-
PRR9	chr1	153217584	153219317	+	ENSG00000203783.4	protein_coding	-	1q21.3	proline rich 9	-
PRRC1	chr5	127517609	127555089	+	ENSG00000164244.20	protein_coding	-	5q23.2	proline rich coiled-coil 1	-
PRRC2A	chr6	31620720	31637771	+	ENSG00000204469.12	protein_coding	BAT2|D6S51|D6S51E|G2	6p21.33	proline rich coiled-coil 2A	A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This gene has microsatellite repeats which are associated with the age-at-onset of insulin-dependent diabetes mellitus (IDDM) and possibly thought to be involved with the inflammatory process of pancreatic beta-cell destruction during the development of IDDM. This gene is also a candidate gene for the development of rheumatoid arthritis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]
PRRC2B	chr9	131394093	131500197	+	ENSG00000130723.18	protein_coding	BAT2L|BAT2L1|KIAA0515|LQFBS-1	9q34.13	proline rich coiled-coil 2B	Ubiquitous expression in brain (RPKM 18.3), ovary (RPKM 17.4) and 25 other tissues
PRRC2C	chr1	171485551	171593511	+	ENSG00000117523.15	protein_coding	BAT2-iso|BAT2D1|BAT2L2|XTP2	1q24.3	proline rich coiled-coil 2C	Ubiquitous expression in bone marrow (RPKM 24.0), lymph node (RPKM 17.9) and 25 other tissues
PRRG2	chr19	49580646	49591015	+	ENSG00000126460.10	protein_coding	PRGP2	19q13.33	proline rich and Gla domain 2	The protein encoded by this gene is a single-pass transmembrane protein containing an N-terminal gamma-carboxyglutamic acid (Gla) domain and tandem Pro/Leu-Pro-Xaa-Tyr (PY) motifs at its C-terminal end. The Gla domain is exposed on the cell surface while the PY motifs are cytoplasmic. The PY motifs of the encoded protein have been shown to interact with YAP1, a WW domain-containing protein. Therefore, it is thought that the encoded protein may be part of a signal transduction pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PRRG4	chr11	32829943	32858123	+	ENSG00000135378.3	protein_coding	PRGP4|TMG4	11p13	proline rich and Gla domain 4	Broad expression in esophagus (RPKM 11.6), skin (RPKM 9.5) and 18 other tissues
PRRT1	chr6	32148359	32154373	-	ENSG00000204314.10	protein_coding	C6orf31|DSPD1|IFITMD7|NG5|SynDIG4	6p21.32	proline rich transmembrane protein 1	Biased expression in brain (RPKM 24.0), ovary (RPKM 12.1) and 6 other tissues
PRRT2	chr16	29811382	29815892	+	ENSG00000167371.17	protein_coding	BFIC2|BFIS2|DSPB3|DYT10|EKD1|FICCA|ICCA|IFITMD1|PKC	16p11.2	proline rich transmembrane protein 2	This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PRRT3	chr3	9945542	9952394	-	ENSG00000163704.11	protein_coding	-	3p25.3	proline rich transmembrane protein 3	-
PRRT3-AS1	chr3	9947404	9954787	+	ENSG00000230082.1	antisense	-	3p25.3	PRRT3 antisense RNA 1	-
PRRX1	chr1	170662728	170739419	+	ENSG00000116132.11	protein_coding	AGOTC|PHOX1|PMX1|PRX-1|PRX1	1q24.2	paired related homeobox 1	The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA-binding activity of serum response factor, a protein required for the induction of genes by growth and differentiation factors. The protein regulates muscle creatine kinase, indicating a role in the establishment of diverse mesodermal muscle types. Alternative splicing yields two isoforms that differ in abundance and expression patterns. [provided by RefSeq, Jul 2008]
PRRX2	chr9	129665641	129722674	+	ENSG00000167157.10	protein_coding	PMX2|PRX2	9q34.11	paired related homeobox 2	The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins. Expression is localized to proliferating fetal fibroblasts and the developing dermal layer, with downregulated expression in adult skin. Increases in expression of this gene during fetal but not adult wound healing suggest a possible role in mechanisms that control mammalian dermal regeneration and prevent formation of scar response to wounding. The expression patterns provide evidence consistent with a role in fetal skin development and a possible role in cellular proliferation. [provided by RefSeq, Jul 2008]
PRSS12	chr4	118280038	118353003	-	ENSG00000164099.3	protein_coding	BSSP-3|BSSP3|MRT1	4q26	serine protease 12	This gene encodes a member of the trypsin family of serine proteases and contains a signal peptide, a proline-rich region, a Kringle domain, four scavenger receptor cysteine-rich domains, and a trypsin-like serine protease domain. The protein, sometimes referred to as neurotrypsin or motopsin, is secreted from neuronal cells and localizes to the synaptic cleft. Studies in mice show that this protein cleaves a protein, agrin, that is important for the formation and maintenance of exitatory synapses. Defects in this gene cause a form of autosomal recessive cognitive impairment (MRT1). [provided by RefSeq, Jul 2017]
PRSS16	chr6	27247701	27256624	+	ENSG00000112812.15	protein_coding	TSSP	6p22.1	serine protease 16	This gene encodes a serine protease expressed exclusively in the thymus. It is thought to play a role in the alternative antigen presenting pathway used by cortical thymic epithelial cells during the positive selection of T cells. The gene is found in the large histone gene cluster on chromosome 6, near the major histocompatibility complex (MHC) class I region. A second transcript variant has been described, but its full length nature has not been determined. [provided by RefSeq, Jul 2008]
PRSS22	chr16	2852727	2858170	-	ENSG00000005001.9	protein_coding	BSSP-4|SP001LA|hBSSP-4	16p13.3	serine protease 22	This gene encodes a member of the trypsin family of serine proteases. The enzyme is expressed in the airways in a developmentally regulated manner. The gene is part of a cluster of serine protease genes on chromosome 16. [provided by RefSeq, Jul 2008]
PRSS23	chr11	86791059	86952910	+	ENSG00000150687.11	protein_coding	SIG13|SPUVE|ZSIG13	11q14.2	serine protease 23	This gene encodes a conserved member of the trypsin family of serine proteases. Mouse studies found a decrease of mRNA levels of this gene after ovulation was induced. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PRSS27	chr16	2712418	2720551	-	ENSG00000172382.9	protein_coding	CAPH2|MPN	16p13.3	serine protease 27	This gene is located within a large protease gene cluster on chromosome 16. It belongs to the group-1 subfamily of serine proteases. The encoded protein is a secreted tryptic serine protease and is expressed mainly in the pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PRSS3	chr9	33750466	33799231	+	ENSG00000010438.16	protein_coding	MTG|PRSS4|T9|TRY3|TRY4	9p13.3	serine protease 3	This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is expressed in the brain and pancreas and is resistant to common trypsin inhibitors. It is active on peptide linkages involving the carboxyl group of lysine or arginine. This gene is localized to the locus of T cell receptor beta variable orphans on chromosome 9. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2010]
PRSS33	chr16	2783953	2787948	-	ENSG00000103355.13	protein_coding	EOS	16p13.3	serine protease 33	Enables serine-type endopeptidase activity. Involved in protein kinase C signaling and proteolysis. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
PRSS35	chr6	83512538	83525704	+	ENSG00000146250.6	protein_coding	C6orf158|dJ223E3.1	6q14.2	serine protease 35	Broad expression in ovary (RPKM 5.2), brain (RPKM 3.9) and 14 other tissues
PRSS36	chr16	31138925	31150094	-	ENSG00000178226.10	protein_coding	-	16p11.2	serine protease 36	-
PRSS38	chr1	227815693	227846470	+	ENSG00000185888.5	protein_coding	MPN2	1q42.13	serine protease 38	Restricted expression toward testis (RPKM 1.8)
PRSS42P	chr3	 46829542	46834095	-	ENSG00000178055	pseudogene	PRSS42|TESSP2	3p21.31	serine protease 42, pseudogene	This gene encodes a member of a cluster of testis-specific serine proteases. The orthologous mouse gene is expressed during meiosis in pachytene spermatocytes and is required for germ cell survival. This human locus is represented as a pseudogene because it contains an early stop codon that disrupts the trypsin domain, compared to the mouse ortholog. [provided by RefSeq, Jan 2019]
PRSS44P	chr3	 46808640	46812574	-	-	pseudogene	PRSS44|TESSP-4|TESSP4	3p21.31	serine protease 44, pseudogene	-
PRSS45P	chr3	 46742091	46744755	-	ENSG00000188086	pseudogene	PRSS45|TESPL|TESSP5	3p21.31	serine protease 45, pseudogene	Low expression observed in reference dataset
PRSS46P	chr3	 46719583	46736427	-	ENSG00000261603	pseudogene	PRSS46|TESSP6	3p21.31	serine protease 46, pseudogene	Biased expression in testis (RPKM 2.7), thyroid (RPKM 0.5) and 2 other tissues
PRSS48	chr4	151277171	151291453	+	ENSG00000189099.11	protein_coding	ESSPL	4q31.3	serine protease 48	Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
PRSS50	chr3	46712115	46717907	-	ENSG00000283706.1	protein_coding	CT20|TSP50	3p21.31	serine protease 50	Biased expression in testis (RPKM 18.5) and thyroid (RPKM 1.9)
PRSS51	chr8	10482878	10547585	-	ENSG00000253649.3	protein_coding	-	8p23.1	serine protease 51	-
PRSS53	chr16	31083425	31089628	-	ENSG00000151006.7	protein_coding	POL3S|UNQ308	16p11.2	serine protease 53	Ubiquitous expression in skin (RPKM 1.8), spleen (RPKM 1.6) and 25 other tissues
PRSS54	chr16	58279997	58295047	-	ENSG00000103023.11	protein_coding	CT67|KLKBL4	16q21	serine protease 54	This gene encodes a putative serine-type endopeptidase containing the peptidase S1 domain. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PRSS55	chr8	10525546	10554166	+	ENSG00000184647.10	protein_coding	CT153|T-SP1|TSP1|UNQ9391	8p23.1	serine protease 55	This gene encodes a member of a group of membrane-anchored chymotrypsin (S1)-like serine proteases. The enocoded protein is primarily expressed in the Leydig and Sertoli cells of the testis and may be involved in male fertility. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]
PRSS56	chr2	232520463	232525716	+	ENSG00000237412.6	protein_coding	MCOP6	2q37.1	serine protease 56	This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos. [provided by RefSeq, Dec 2011]
PRSS8	chr16	31131433	31135762	-	ENSG00000052344.15	protein_coding	CAP1|PROSTASIN	16p11.2	serine protease 8	This gene encodes a member of the peptidase S1 or chymotrypsin family of serine proteases. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate via a disulfide bond to form the heterodimeric enzyme. This enzyme is highly expressed in prostate epithelia and is one of several proteolytic enzymes found in seminal fluid. This protease exhibits trypsin-like substrate specificity, cleaving protein substrates at the carboxyl terminus of lysine or arginine residues. The encoded protease partially mediates proteolytic activation of the epithelial sodium channel, a regulator of sodium balance, and may also play a role in epithelial barrier formation. [provided by RefSeq, Feb 2016]
PRTFDC1	chr10	24848607	24952604	-	ENSG00000099256.18	protein_coding	HHGP	10p12.1	phosphoribosyl transferase domain containing 1	Ubiquitous expression in brain (RPKM 14.5), adrenal (RPKM 9.7) and 21 other tissues
PRTG	chr15	55611546	55743090	-	ENSG00000166450.12	protein_coding	IGDCC5	15q21.3	protogenin	This gene encodes a member of the immunoglobulin superfamily. The encoded transmembrane protein has been associated with the development of various tissues, especially neurogenesis. It has been suggested that this gene may be associated with attention deficit hyperactivity disorder (ADHD). [provided by RefSeq, Nov 2014]
PRTN3	chr19	840960	848175	+	ENSG00000196415.9	protein_coding	ACPA|AGP7|C-ANCA|CANCA|MBN|MBT|NP-4|NP4|P29|PR-3|PR3	19p13.3	proteinase 3	Restricted expression toward bone marrow (RPKM 616.2)
PRUNE1	chr1	151008420	151035713	+	ENSG00000143363.15	protein_coding	DRES-17|DRES17|H-PRUNE|HTCD37|NMIHBA|PRUNE	1q21.3	prune exopolyphosphatase 1	This gene encodes a member of the DHH protein superfamily of phosphoesterases. This protein has been found to function as both a nucleotide phosphodiesterase and an exopolyphosphatase. This protein is believed to stimulate cancer progression and metastases through the induction of cell motility. A pseuodgene has been identified on chromosome 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PRUNE2	chr9	76611376	76906087	-	ENSG00000106772.17	protein_coding	BMCC1|BNIPXL|C9orf65|KIAA0367	9q21.2	prune homolog 2 with BCH domain	The protein encoded by this gene belongs to the B-cell CLL/lymphoma 2 and adenovirus E1B 19 kDa interacting family, whose members play roles in many cellular processes including apotosis, cell transformation, and synaptic function. Several functions for this protein have been demonstrated including suppression of Ras homolog family member A activity, which results in reduced stress fiber formation and suppression of oncogenic cellular transformation. A high molecular weight isoform of this protein has also been shown to colocalize with Adaptor protein complex 2, beta-Adaptin and endodermal markers, suggesting an involvement in post-endocytic trafficking. In prostate cancer cells, this gene acts as a tumor suppressor and its expression is regulated by prostate cancer antigen 3, a non-protein coding gene on the opposite DNA strand in an intron of this gene. Prostate cancer antigen 3 regulates levels of this gene through formation of a double-stranded RNA that undergoes adenosine deaminase actin on RNA-dependent adenosine-to-inosine RNA editing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
PRX	chr19	40393768	40413366	-	ENSG00000105227.14	protein_coding	CMT4F	19q13.2	periaxin	This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008]
PRXL2A	chr10	 80407829	80437115	+	ENSG00000122378	protein-coding	Adrx|C10orf58|FAM213A|PAMM	10q23.1	peroxiredoxin like 2A	Broad expression in fat (RPKM 75.6), brain (RPKM 14.4) and 16 other tissues
PRXL2B	chr1	 2586523	2591468	+	ENSG00000157870	protein-coding	C1orf93|FAM213B	1p36.32	peroxiredoxin like 2B	Ubiquitous expression in duodenum (RPKM 15.1), small intestine (RPKM 14.9) and 24 other tissues
PRXL2C	chr9	 96639577	96655317	-	ENSG00000158122	protein-coding	AAED1|C9orf21	9q22.33	peroxiredoxin like 2C	Ubiquitous expression in thyroid (RPKM 7.8), gall bladder (RPKM 7.6) and 25 other tissues
PSAP	chr10	71816298	71851375	-	ENSG00000197746.13	protein_coding	GLBA|PARK24|PSAPD|SAP1|SAP2	10q22.1	prosaposin	This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
PSCA	chr8	142670308	142682724	+	ENSG00000167653.4	protein_coding	PRO232|lncPSCA	8q24.3	prostate stem cell antigen	This gene encodes a glycosylphosphatidylinositol-anchored cell membrane glycoprotein. In addition to being highly expressed in the prostate it is also expressed in the bladder, placenta, colon, kidney, and stomach. This gene is up-regulated in a large proportion of prostate cancers and is also detected in cancers of the bladder and pancreas. This gene includes a polymorphism that results in an upstream start codon in some individuals; this polymorphism is thought to be associated with a risk for certain gastric and bladder cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
PSD	chr10	102402617	102421539	-	ENSG00000059915.16	protein_coding	EFA6|EFA6A|PSD1|TYL	10q24.32	pleckstrin and Sec7 domain containing	This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PSD2	chr5	139795821	139844466	+	ENSG00000146005.3	protein_coding	EFA6C	5q31.2	pleckstrin and Sec7 domain containing 2	Biased expression in brain (RPKM 11.2) and testis (RPKM 0.5)
PSD3	chr8	18527301	19084730	-	ENSG00000156011.16	protein_coding	EFA6D|EFA6R|HCA67	8p22	pleckstrin and Sec7 domain containing 3	Broad expression in brain (RPKM 17.3), adrenal (RPKM 6.3) and 19 other tissues
PSD4	chr2	113157325	113209396	+	ENSG00000125637.15	protein_coding	EFA6B|TIC	2q14.1	pleckstrin and Sec7 domain containing 4	Ubiquitous expression in lymph node (RPKM 21.5), spleen (RPKM 20.1) and 22 other tissues
PSEN1	chr14	73136418	73223691	+	ENSG00000080815.18	protein_coding	ACNINV3|AD3|FAD|PS-1|PS1|S182	14q24.2	presenilin 1	Alzheimers disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]
PSEN2	chr1	226870184	226896105	+	ENSG00000143801.16	protein_coding	AD3L|AD4|CMD1V|PS2|STM2	1q42.13	presenilin 2	Alzheimers disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008]
PSG10P	chr19	42839368	42855718	-	ENSG00000248257.7	transcribed_unprocessed_pseudogene	PSG10|PSG12	19q13.2	pregnancy specific beta-1-glycoprotein 10, pseudogene	The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]
PSG8	chr19	42752686	42855691	-	ENSG00000124467.18	protein_coding	PSG1	19q13.2	pregnancy specific beta-1-glycoprotein 8	The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]
PSG8-AS1	chr19	42821863	42826878	+	ENSG00000225877.1	lincRNA	-	19q13.2	PSG8 antisense RNA 1	-
PSG9	chr19	43211791	43269530	-	ENSG00000183668.17	protein_coding	PS34|PSBG-11|PSBG-9|PSG11|PSGII	19q13.31	pregnancy specific beta-1-glycoprotein 9	The protein encoded by this gene is a member of the pregnancy-specific glycoprotein (PSG) family. This protein family and the closely related carcinoembryonic antigen cell adhesion molecule (CEACAM) gene family are both members of the immunoglobulin superfamily, and are organized as a large gene cluster. This protein is thought to inhibit platelet-fibrinogen interactions. Several studies suggest that reduced serum concentrations of PSGs are associated with fetal growth restrictions, while up-regulation of this gene has been observed in colorectal cancers. Several pseudogenes of this gene are found on chromosome 19. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms. [provided by RefSeq, Sep 2014]
PSIP1	chr9	15464066	15511019	-	ENSG00000164985.14	protein_coding	DFS70|LEDGF|PAIP|PSIP2|p52|p75	9p22.3	PC4 and SFRS1 interacting protein 1	Enables DNA-binding transcription factor binding activity; chromatin binding activity; and transcription coactivator activity. Involved in mRNA 5-splice site recognition and positive regulation of transcription by RNA polymerase II. Located in heterochromatin; nuclear periphery; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
PSKH1	chr16	67893272	67929678	+	ENSG00000159792.9	protein_coding	-	16q22.1	protein serine kinase H1	-
PSMA1	chr11	14504874	14643635	-	ENSG00000129084.17	protein_coding	HC2|HEL-S-275|NU|PROS30	11p15.2	proteasome 20S subunit alpha 1	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]
PSMA2	chr7	42916857	42932223	-	ENSG00000106588.10	protein_coding	HC3|MU|PMSA2|PSC2	7p14.1	proteasome 20S subunit alpha 2	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. [provided by RefSeq, Jul 2008]
PSMA3	chr14	58244831	58272012	+	ENSG00000100567.12	protein_coding	HC8|PSC3	14q23.1	proteasome 20S subunit alpha 3	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Two alternative transcripts encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PSMA4	chr15	78540405	78552419	+	ENSG00000041357.15	protein_coding	HC9|HsT17706|PSC9	15q25.1	proteasome 20S subunit alpha 4	This gene encodes a core alpha subunit of the 20S proteosome, which is a highly ordered ring-shaped structure composed of four rings of 28 non-identical subunits. Proteasomes cleave peptides in an ATP- and ubiquitin-dependent manner. [provided by RefSeq, Aug 2016]
PSMA5	chr1	109399031	109426427	-	ENSG00000143106.12	protein_coding	PSC5|ZETA	1p13.3	proteasome 20S subunit alpha 5	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
PSMA6	chr14	35278633	35317493	+	ENSG00000100902.10	protein_coding	IOTA|PROS27|p27K	14q13.2	proteasome 20S subunit alpha 6	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. Multiple transcript variants encoding several different isoforms have been found for this gene. A pseudogene has been identified on the Y chromosome. [provided by RefSeq, Aug 2013]
PSMA7	chr20	62136735	62143440	-	ENSG00000101182.14	protein_coding	C6|HEL-S-276|HSPC|RC6-1|XAPC7	20q13.33	proteasome 20S subunit alpha 7	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the peptidase T1A family that functions as a 20S core alpha subunit. The encoded protein interacts with the hepatitis B virus X protein and plays a role in regulating hepatitis C virus internal ribosome entry site (IRES) activity, an activity essential for viral replication. The encoded protein also plays a role in the cellular stress response by regulating hypoxia-inducible factor-1alpha. A pseudogene of this gene is located on the long arm of chromosome 9. [provided by RefSeq, Jul 2012]
PSMB10	chr16	67934502	67937087	-	ENSG00000205220.11	protein_coding	LMP10|MECL1|PRAAS5|beta2i	16q22.1	proteasome 20S subunit beta 10	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Proteolytic processing is required to generate a mature subunit. Expression of this gene is induced by gamma interferon, and this gene product replaces catalytic subunit 2 (proteasome beta 7 subunit) in the immunoproteasome. [provided by RefSeq, Jul 2008]
PSMB11	chr14	23042167	23044276	+	ENSG00000222028.3	protein_coding	BETA5T	14q11.2	proteasome subunit beta 11	Proteasomes generate peptides that are presented by major histocompatibility complex (MHC) I molecules to other cells of the immune system. Proteolysis is conducted by 20S proteasomes, complexes of 28 subunits arranged as a cylinder in 4 heteroheptameric rings: alpha-1 to -7, beta-1 to -7, beta-1 to -7, and alpha-1 to -7. The catalytic subunits are beta-1 (PSMB6; MIM 600307), beta-2 (PSMB7; MIM 604030), and beta-5 (PSMB5; MIM 600306). Three additional subunits, beta-1i (PSMB9; MIM 177045), beta-2i (PSMB10; MIM 176847), and beta-5i (PSMB8; MIM 177046), are induced by gamma-interferon (IFNG; MIM 147570) and are preferentially incorporated into proteasomes to make immunoproteasomes. PSMB11, or beta-5t, is a catalytic subunit expressed exclusively in cortical thymic epithelial cells (Murata et al., 2007 [PubMed 17540904]).[supplied by OMIM, Mar 2008]
PSMB2	chr1	35599544	35641844	-	ENSG00000126067.11	protein_coding	HC7-I	1p34.3	proteasome 20S subunit beta 2	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
PSMB3	chr17	38752736	38764231	+	ENSG00000277791.4	protein_coding	HC10-II	17q12	proteasome 20S subunit beta 3	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. The 26 S proteasome may be involved in trinucleotide repeat expansion, a phenomenon which is associated with many hereditary neurological diseases. Pseudogenes have been identified on chromosomes 2 and 12. Alternative splicing results in multiple transcript variants [provided by RefSeq, Sep 2013]
PSMB4	chr1	151399534	151401944	+	ENSG00000159377.10	protein_coding	HN3|HsN3|PRAAS3|PROS-26|PROS26	1q21.3	proteasome 20S subunit beta 4	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. [provided by RefSeq, Jul 2008]
PSMB5	chr14	23016543	23035230	-	ENSG00000100804.18	protein_coding	LMPX|MB1	14q11.2	proteasome 20S subunit beta 5	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit in the proteasome. This catalytic subunit is not present in the immunoproteasome and is replaced by catalytic subunit 3i (proteasome beta 8 subunit). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]
PSMB6	chr17	4796144	4798503	+	ENSG00000142507.9	protein_coding	DELTA|LMPY	17p13.2	proteasome 20S subunit beta 6	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PSMB7	chr9	124353466	124415444	-	ENSG00000136930.12	protein_coding	-	9q33.3	proteasome 20S subunit beta 7	Ubiquitous expression in testis (RPKM 70.4), adrenal (RPKM 65.0) and 25 other tissues
PSMB8	chr6	32840717	32844703	-	ENSG00000204264.8	protein_coding	ALDD|D6S216|D6S216E|JMP|LMP7|NKJO|PRAAS1|PSMB5i|RING10	6p21.32	proteasome 20S subunit beta 8	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 3 (proteasome beta 5 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. Two alternative transcripts encoding two isoforms have been identified; both isoforms are processed to yield the same mature subunit. [provided by RefSeq, Jul 2008]
PSMB8-AS1	chr6	32844086	32846495	+	ENSG00000204261.8	lincRNA	TAP1-AS1|TAPSAR1	6p21.32	PSMB8 antisense RNA 1 (head to head)	Broad expression in spleen (RPKM 54.1), lymph node (RPKM 51.8) and 24 other tissues
PSMB9	chr6	32844136	32859585	+	ENSG00000240065.7	protein_coding	LMP2|PRAAS3|PSMB6i|RING12|beta1i	6p21.32	proteasome 20S subunit beta 9	The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit. This gene is located in the class II region of the MHC (major histocompatibility complex). Expression of this gene is induced by gamma interferon and this gene product replaces catalytic subunit 1 (proteasome beta 6 subunit) in the immunoproteasome. Proteolytic processing is required to generate a mature subunit. [provided by RefSeq, Mar 2010]
PSMC1P4	chr5	56275304	56276630	-	ENSG00000248781.1	processed_pseudogene	-	5q11.2	proteasome 26S subunit, ATPase 1 pseudogene 4	-
PSMC1P5	chr5	107195156	107195332	+	ENSG00000250273.1	processed_pseudogene	-	5q21.3	proteasome 26S subunit, ATPase 1 pseudogene 5	-
PSMC1P7	chr3	161328924	161330238	-	ENSG00000243838.1	processed_pseudogene	-	3q26.1	proteasome 26S subunit, ATPase 1 pseudogene 7	-
PSMC2	chr7	103344254	103369395	+	ENSG00000161057.11	protein_coding	MSS1|Nbla10058|RPT1|S7	7q22.1	proteasome 26S subunit, ATPase 2	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit has been shown to interact with several of the basal transcription factors so, in addition to participation in proteasome functions, this subunit may participate in the regulation of transcription. This subunit may also compete with PSMC3 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2011]
PSMC3	chr11	47418769	47426473	-	ENSG00000165916.8	protein_coding	DCIDP|RPT5|TBP1	11p11.2	proteasome 26S subunit, ATPase 3	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases that have chaperone-like activity. This subunit may compete with PSMC2 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. A pseudogene has been identified on chromosome 9. [provided by RefSeq, Jul 2008]
PSMC3IP	chr17	42572315	42577831	-	ENSG00000131470.14	protein_coding	GT198|HOP2|HUMGT198A|ODG3|TBPIP	17q21.2	PSMC3 interacting protein	This gene encodes a protein that functions in meiotic recombination. It is a subunit of the PSMC3IP/MND1 complex, which interacts with PSMC3/TBP1 to stimulate DMC1- and RAD51-mediated strand exchange during meiosis. The protein encoded by this gene can also co-activate ligand-driven transcription mediated by estrogen, androgen, glucocorticoid, progesterone, and thyroid nuclear receptors. Mutations in this gene cause XX female gonadal dysgenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2011]
PSMC4	chr19	39971005	39981441	+	ENSG00000013275.7	protein_coding	MIP224|RPT3|S6|TBP-7|TBP7	19q13.2	proteasome 26S subunit, ATPase 4	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the triple-A family of ATPases that is a component of the 19S regulatory subunit and plays a role in 26S proteasome assembly. The encoded protein interacts with gankyrin, a liver oncoprotein, and may also play a role in Parkinsons disease through interactions with synphilin-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PSMC5	chr17	63827152	63832026	+	ENSG00000087191.12	protein_coding	RPT6|S8|SUG-1|SUG1|TBP10|TRIP1|p45|p45/SUG	17q23.3	proteasome 26S subunit, ATPase 5	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. In addition to participation in proteasome functions, this subunit may participate in transcriptional regulation since it has been shown to interact with the thyroid hormone receptor and retinoid X receptor-alpha. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PSMC6	chr14	52707172	52728587	+	ENSG00000100519.11	protein_coding	RPT5|SUG2|p42	14q22.1	proteasome 26S subunit, ATPase 6	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway.  An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. Pseudogenes have been identified on chromosomes 8 and 12. [provided by RefSeq, Jul 2008]
PSMD1	chr2	231056864	231172827	+	ENSG00000173692.12	protein_coding	P112|Rpn2|S1	2q37.1	proteasome 26S subunit, non-ATPase 1	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes the largest non-ATPase subunit of the 19S regulator lid, which is responsible for substrate recognition and binding. There is evidence that this proteasome and its subunits interact with viral proteins, including those of coronaviruses. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2020]
PSMD11	chr17	32444261	32483318	+	ENSG00000108671.9	protein_coding	Rpn6|S9|p44.5	17q11.2	proteasome 26S subunit, non-ATPase 11	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S9 family that functions as a non-ATPase subunit of the 19S regulator and is phosphorylated by AMP-activated protein kinase. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
PSMD13	chr11	236546	252984	+	ENSG00000185627.17	protein_coding	HSPC027|Rpn9|S11|p40.5	11p15.5	proteasome 26S subunit, non-ATPase 13	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway.  An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PSMD14	chr2	161308038	161411717	+	ENSG00000115233.11	protein_coding	PAD1|POH1|RPN11	2q24.2	proteasome 26S subunit, non-ATPase 14	This gene encodes a component of the 26S proteasome. The 26S proteasome is a large multiprotein complex that catalyzes the degradation of ubiquitinated intracellular proteins. The encoded protein is a component of the 19S regulatory cap complex of the 26S proteasome and mediates substrate deubiquitination. A pseudogene of this gene is also located on the long arm of chromosome 2. [provided by RefSeq, Feb 2012]
PSMD2	chr3	184298709	184309054	+	ENSG00000175166.16	protein_coding	P97|RPN1|S2|TRAP2	3q27.1	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. In addition to participation in proteasome function, this subunit may also participate in the TNF signalling pathway since it interacts with the tumor necrosis factor type 1 receptor. A pseudogene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
PSMD3	chr17	39980797	39997960	+	ENSG00000108344.14	protein_coding	P58|RPN3|S3|TSTA2	17q21.1	proteasome 26S subunit, non-ATPase 3	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S3 family that functions as one of the non-ATPase subunits of the 19S regulator lid. Single nucleotide polymorphisms in this gene are associated with neutrophil count. [provided by RefSeq, Jul 2012]
PSMD4	chr1	151254703	151267479	+	ENSG00000159352.15	protein_coding	AF|AF-1|ASF|MCB1|Rpn10|S5A|pUB-R5	1q21.3	proteasome 26S subunit ubiquitin receptor, non-ATPase 4	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. Pseudogenes have been identified on chromosomes 10 and 21. [provided by RefSeq, Jul 2008]
PSMD5	chr9	120815496	120842984	-	ENSG00000095261.13	protein_coding	S5B	9q33.2	proteasome 26S subunit, non-ATPase 5	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a non-ATPase subunit of the 19S regulator base that functions as a chaperone protein during 26S proteasome assembly. [provided by RefSeq, Jul 2012]
PSMD6	chr3	64010549	64024010	-	ENSG00000163636.10	protein_coding	Rpn7|S10|SGA-113M|p42A|p44S10	3p14.1	proteasome 26S subunit, non-ATPase 6	This gene encodes a member of the protease subunit S10 family. The encoded protein is a subunit of the 26S proteasome which colocalizes with DNA damage foci and is involved in the ATP-dependent degradation of ubiquinated proteins. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]
PSMD6-AS1	chr3	64011964	64016246	+	ENSG00000243410.1	antisense	lnc00462717	3p14.1	PSMD6 antisense RNA 1	-
PSMD6-AS2	chr3	64004022	64012148	+	ENSG00000239653.1	antisense	-	3p14.1	PSMD6 antisense RNA 2	-
PSMD7	chr16	74296775	74306288	+	ENSG00000103035.10	protein_coding	MOV34|P40|Rpn8|S12	16q23.1	proteasome 26S subunit, non-ATPase 7	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]
PSMD8	chr19	38374536	38383824	+	ENSG00000099341.11	protein_coding	HEL-S-91n|HIP6|HYPF|Nin1p|Rpn12|S14|p31	19q13.2	proteasome 26S subunit, non-ATPase 8	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway.  An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]
PSMD8P1	chr1	154414369	154415137	-	ENSG00000228264.1	processed_pseudogene	-	1q21.3	proteasome 26S subunit, non-ATPase, 8 pseudogene 1	-
PSMD9	chr12	121888731	121918297	+	ENSG00000110801.13	protein_coding	Rpn4|p27	12q24.31	proteasome 26S subunit, non-ATPase 9	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PSME1	chr14	24136158	24138967	+	ENSG00000092010.14	protein_coding	HEL-S-129m|IFI5111|PA28A|PA28alpha|REGalpha	14q12	proteasome activator subunit 1	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the alpha subunit of the 11S regulator, one of the two 11S subunits that is induced by gamma-interferon. Three alpha and three beta subunits combine to form a heterohexameric ring. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PSME2P2	chr13	48771128	48771827	+	ENSG00000225131.2	processed_pseudogene	-	13q14.2	proteasome activator subunit 2 pseudogene 2	-
PSME3	chr17	42824385	42843758	+	ENSG00000131467.10	protein_coding	HEL-S-283|Ki|PA28-gamma|PA28G|PA28gamma|REG-GAMMA	17q21.31	proteasome activator subunit 3	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. The immunoproteasome contains an alternate regulator, referred to as the 11S regulator or PA28, that replaces the 19S regulator. Three subunits (alpha, beta and gamma) of the 11S regulator have been identified. This gene encodes the gamma subunit of the 11S regulator. Six gamma subunits combine to form a homohexameric ring. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2012]
PSME3IP1	chr16	 57152466	57186116	-	ENSG00000172775	protein-coding	C16orf94|CDA018|CDA10|FAM192A|NIP30|PIP30	16q13	proteasome activator subunit 3 interacting protein 1	Ubiquitous expression in brain (RPKM 12.2), testis (RPKM 10.1) and 25 other tissues
PSME4	chr2	53864067	53970840	-	ENSG00000068878.14	protein_coding	PA200	2p16.2	proteasome activator subunit 4	Broad expression in testis (RPKM 32.8), endometrium (RPKM 14.4) and 24 other tissues
PSMF1	chr20	1113263	1189415	+	ENSG00000125818.17	protein_coding	PI31	20p13	proteasome inhibitor subunit 1	The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a protein that inhibits the activation of the proteasome by the 11S and 19S regulators. Alternative transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
PSMG1	chr21	39174769	39183851	-	ENSG00000183527.11	protein_coding	C21LRP|DSCR2|LRPC21|PAC-1|PAC1	21q22.2	proteasome assembly chaperone 1	Broad expression in testis (RPKM 57.7), thyroid (RPKM 14.4) and 23 other tissues
PSMG2	chr18	12658043	12725740	+	ENSG00000128789.20	protein_coding	CLAST3|HCCA3|HsT1707|MDS003|PAC2|PRAAS4|TNFSF5IP1	18p11.21	proteasome assembly chaperone 2	Ubiquitous expression in testis (RPKM 46.4), bone marrow (RPKM 28.3) and 25 other tissues
PSMG3-AS1	chr7	1570073	1589626	+	ENSG00000230487.7	lincRNA	-	7p22.3	PSMG3 antisense RNA 1 (head to head)	-
PSORS1C1	chr6	31114750	31140092	+	ENSG00000204540.10	protein_coding	C6orf16|SEEK1	6p21.33	psoriasis susceptibility 1 candidate 1	This gene is one of several genes thought to confer susceptibility to psoriasis and systemic sclerosis, located on chromosome 6 near the major histocompatibility complex (MHC) class I region. [provided by RefSeq, Sep 2011]
PSORS1C2	chr6	31137536	31139350	-	ENSG00000204538.3	protein_coding	C6orf17|SPR1	6p21.33	psoriasis susceptibility 1 candidate 2	Restricted expression toward skin (RPKM 17.2)
PSORS1C3	chr6	31173735	31177899	-	ENSG00000204528.3	sense_intronic	NCRNA00196	6p21.33	psoriasis susceptibility 1 candidate 3	Broad expression in duodenum (RPKM 1.5), gall bladder (RPKM 1.4) and 16 other tissues
PSPC1	chr13	19674752	19783019	-	ENSG00000121390.18	protein_coding	PSP1	13q12.11	paraspeckle component 1	This gene encodes a nucleolar protein that localizes to punctate subnuclear structures that occur close to splicing speckles, known as paraspeckles. These paraspeckles are composed of RNA-protein structures that include a non-coding RNA, NEAT1/Men epsilon/beta, and the Drosophila Behavior Human Splicing family of proteins, which include the product of this gene and the P54NRB/NONO and PSF/SFPQ proteins. Paraspeckles may function in the control of gene expression via an RNA nuclear retention mechanism. The protein encoded by this gene is found in paraspeckles in transcriptionally active cells, but it localizes to unique cap structures at the nucleolar periphery when RNA polymerase II transcription is inhibited, or during telophase. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene, which is also located on chromosome 13, has been identified. [provided by RefSeq, Aug 2011]
PSPC1-AS2	chr13	19674624	19675884	+	ENSG00000226352.2	antisense	-	13q12.11	PSPC1 antisense RNA 2	-
PSPH	chr7	56011051	56051604	-	ENSG00000146733.13	protein_coding	PSP|PSPHD	7p11.2	phosphoserine phosphatase	The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [provided by RefSeq, Jul 2008]
PSPHP1	chr7	55764797	55773288	+	ENSG00000226278.1	unprocessed_pseudogene	CO9|PSPHL	7p11.2	phosphoserine phosphatase pseudogene 1	This gene is significantly upregulated in Fanconis anemia fibroblasts but downregulated or absent in fibroblasts from normal donors. It is also highly expressed in FA B-cells of complementation group A. [provided by RefSeq, Jul 2008]
PSRC1	chr1	109279556	109283186	-	ENSG00000134222.16	protein_coding	DDA3|FP3214	1p13.3	proline and serine rich coiled-coil 1	This gene encodes a proline-rich protein that is a target for regulation by the tumor suppressor protein p53. The encoded protein plays an important role in mitosis by recruiting and regulating microtubule depolymerases that destabalize microtubules. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Apr 2014]
PSTK	chr10	122954381	122997513	+	ENSG00000179988.13	protein_coding	C10orf89	10q26.13	phosphoseryl-tRNA kinase	Ubiquitous expression in bone marrow (RPKM 1.8), testis (RPKM 1.5) and 25 other tissues
PSTPIP1	chr15	76993359	77037332	+	ENSG00000140368.12	protein_coding	CD2BP1|CD2BP1L|CD2BP1S|H-PIP|PAPAS|PSTPIP	15q24.3	proline-serine-threonine phosphatase interacting protein 1	This gene encodes a cytoskeletal protein that is highly expressed in hemopoietic tissues. This protein functions via its interaction with several different proteins involved in cytoskeletal organization and inflammatory processes. It binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, downregulating CD2-triggered adhesion. It binds PEST-type protein tyrosine phosphatases (PTP) and directs them to c-Abl kinase to mediate c-Abl dephosphorylation, thereby, regulating c-Abl activity. It also interacts with pyrin, which is found in association with the cytoskeleton in myeloid/monocytic cells and modulates immunoregulatory functions. Mutations in this gene are associated with PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) syndrome. It is hypothesized that the disease-causing mutations compromise physiologic signaling necessary for the maintenance of a proper inflammatory response. [provided by RefSeq, Mar 2016]
PSTPIP2	chr18	45983536	46072272	-	ENSG00000152229.18	protein_coding	MAYP	18q21.1|tdb7990	proline-serine-threonine phosphatase interacting protein 2	Broad expression in bone marrow (RPKM 28.6), spleen (RPKM 27.4) and 17 other tissues
PTAFR	chr1	28147166	28193936	-	ENSG00000169403.11	protein_coding	PAFR	1p35.3	platelet activating factor receptor	This gene encodes a seven-transmembrane G-protein-coupled receptor for platelet-activating factor (PAF) that localizes to lipid rafts and/or caveolae in the cell membrane. PAF (1-0-alkyl-2-acetyl-sn-glycero-3-phosphorylcholine) is a phospholipid that plays a significant role in oncogenic transformation, tumor growth, angiogenesis, metastasis, and pro-inflammatory processes. Binding of PAF to the PAF-receptor (PAFR) stimulates numerous signal transduction pathways including phospholipase C, D, A2, mitogen-activated protein kinases (MAPKs), and the phosphatidylinositol-calcium second messenger system. Following PAFR activation, cells become rapidly desensitized and this refractory state is dependent on PAFR phosphorylation, internalization, and down-regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PTAR1	chr9	69709522	69759959	-	ENSG00000188647.12	protein_coding	-	9q21.12	protein prenyltransferase alpha subunit repeat containing 1	-
PTBP1	chr19	797075	812327	+	ENSG00000011304.19	protein_coding	HNRNP-I|HNRNPI|HNRPI|PTB|PTB-1|PTB-T|PTB2|PTB3|PTB4|pPTB	19p13.3	polypyrimidine tract binding protein 1	This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has four repeats of quasi-RNA recognition motif (RRM) domains that bind RNAs. This protein binds to the intronic polypyrimidine tracts that requires pre-mRNA splicing and acts via the protein degradation ubiquitin-proteasome pathway. It may also promote the binding of U2 snRNP to pre-mRNAs. This protein is localized in the nucleoplasm and it is also detected in the perinucleolar structure. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PTBP2	chr1	96721665	96823738	+	ENSG00000117569.18	protein_coding	PTBLP|brPTB|nPTB	1p21.3	polypyrimidine tract binding protein 2	The protein encoded by this gene binds to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein (PTB) but most of its isoforms are expressed primarily in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PTBP3	chr9	112217716	112333667	-	ENSG00000119314.15	protein_coding	ROD1	9q32	polypyrimidine tract binding protein 3	The protein encoded by this gene binds RNA and is a regulator of cell differentiation. The encoded protein preferentially binds to poly(G) and poly(U) sequences in vitro. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PTCD1	chr7	99416739	99466163	-	ENSG00000106246.17	protein_coding	-	7q22.1	pentatricopeptide repeat domain 1	Ubiquitous expression in testis (RPKM 5.8), bone marrow (RPKM 4.7) and 25 other tissues
PTCD2	chr5	72320367	72368395	+	ENSG00000049883.14	protein_coding	-	5q13.2	pentatricopeptide repeat domain 2	-
PTCD3	chr2	86106182	86142157	+	ENSG00000132300.18	protein_coding	COXPD51|MRP-S39	2p11.2	pentatricopeptide repeat domain 3	Ubiquitous expression in testis (RPKM 14.7), heart (RPKM 11.3) and 25 other tissues
PTCH1	chr9	95442980	95517057	-	ENSG00000185920.15	protein_coding	BCNS|NBCCS|PTC|PTC1|PTCH	9q22.32	patched 1	This gene encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway. Hedgehog signaling is important in embryonic development and tumorigenesis. The encoded protein is the receptor for the secreted hedgehog ligands, which include sonic hedgehog, indian hedgehog and desert hedgehog. Following binding by one of the hedgehog ligands, the encoded protein is trafficked away from the primary cilium, relieving inhibition of the G-protein-coupled receptor smoothened, which results in activation of downstream signaling. Mutations of this gene have been associated with basal cell nevus syndrome and holoprosencephaly. [provided by RefSeq, Aug 2017]
PTCH2	chr1	44819844	44843063	-	ENSG00000117425.13	protein_coding	PTC2	1p34.1	patched 2	This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]
PTCHD3P1	chr10	29421476	29422012	-	ENSG00000274985.1	unprocessed_pseudogene	-	10p11.23	patched domain containing 3 pseudogene 1	-
PTCHD3P3	chr6	109288571	109290503	-	ENSG00000219700.1	processed_pseudogene	-	6q21	patched domain containing 3 pseudogene 3	-
PTCHD4	chr6	47878028	48068689	-	ENSG00000244694.7	protein_coding	C6orf138|PTCH53|dJ402H5.2	6p12.3	patched domain containing 4	Low expression observed in reference dataset
PTCSC2	chr9	97805935	97810008	-	ENSG00000236130.1	lincRNA	-	9q22.33	papillary thyroid carcinoma susceptibility candidate 2	-
PTDSS1	chr8	96261715	96336995	+	ENSG00000156471.12	protein_coding	LMHD|PSS1|PSSA	8q22.1	phosphatidylserine synthase 1	The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
PTDSS2	chr11	448268	491399	+	ENSG00000174915.11	protein_coding	PSS2	11p15.5	phosphatidylserine synthase 2	The protein encoded by this gene catalyzes the conversion of phosphatidylethanolamine to phosphatidylserine, a structural membrane phospholipid that functions in cell signaling, blood coagulation, and apoptosis. The encoded enzyme also has a high affinity for docosahexaenoic acid (DHA) and can use it to make DHA-containing phosphatidylserine. [provided by RefSeq, Jul 2016]
PTEN	chr10	87863113	87971930	+	ENSG00000171862.10	protein_coding	10q23del|BZS|CWS1|DEC|GLM2|MHAM|MMAC1|PTEN1|PTENbeta|TEP1	10q23.31	phosphatase and tensin homolog	This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
PTENP1	chr9	33673504	33677499	-	ENSG00000237984.3	transcribed_processed_pseudogene	PTEN-rs|PTEN2|PTENpg1|PTH2|psiPTEN	9p13.3	phosphatase and tensin homolog pseudogene 1	PTENP1 represents a highly homologous processed pseudogene of PTEN (phosphatase and tensin homolog), a protein that encodes a tumor suppressor that functions by negatively regulating the AKT/PKB signaling pathway. PTENP1 is found on chromosome 9 and regulates PTEN by both sense and antisense RNAs (Gene ID: 101243555). This long-noncoding RNA (lncRNA) acts as a decoy for PTEN targeting microRNAs and also exerts a tumor suppressive activity. [provided by RefSeq, Jun 2020]
PTENP1-AS	chr9	33677268	33688011	+	ENSG00000281128.1	antisense	PTENP1as|PTENpg1-asRNA	9p13.3	PTENP1 antisense RNA	PTENP1-AS encodes an antisense RNA (asRNA) of PTENP1, a PTEN (phosphatase and tensin homolog) pseudogene. PTENP1 regulates PTEN by both sense (GeneID: 11191) and antisense RNAs. This antisense RNA (PTENP1-AS) regulates PTEN transcription and mRNA stability. [provided by RefSeq, Jun 2020]
PTF1A	chr10	23192327	23194252	+	ENSG00000168267.6	protein_coding	PACA|PAGEN2|PTF1-p48|bHLHa29|p48	10p12.2	pancreas associated transcription factor 1a	This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq, Jul 2008]
PTGDR	chr14	52267713	52276724	+	ENSG00000168229.3	protein_coding	AS1|ASRT1|DP|DP1|PTGDR1	14q22.1	prostaglandin D2 receptor	This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor (GPCR) superfamily. The receptors are seven-pass transmembrane proteins that respond to extracellular cues and activate intracellular signal transduction pathways. This protein is reported to be a receptor for prostaglandin D2, which is a mediator of allergic inflammation and allergic airway inflammation in asthma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PTGDR2	chr11	60850940	60855971	-	ENSG00000183134.4	protein_coding	CD294|CRTH2|DL1R|DP2|GPR44	11q12.2	prostaglandin D2 receptor 2	This gene encodes a G-protein-coupled receptor that is preferentially expressed in CD4+ effector T helper 2 (Th2) cells. This protein is a prostaglandin D2 receptor that mediates the pro-inflammatory chemotaxis of eosinophils, basophils, and Th2 lymphocytes generated during allergic inflammation. Single nucleotide polymorphisms in the 3 UTR of this gene have been associated with asthma susceptibility.[provided by RefSeq, Mar 2011]
PTGDS	chr9	136975092	136981742	+	ENSG00000107317.12	protein_coding	L-PGDS|LPGDS|PDS|PGD2|PGDS|PGDS2	9q34.3	prostaglandin D2 synthase	The protein encoded by this gene is a glutathione-independent prostaglandin D synthase that catalyzes the conversion of prostaglandin H2 (PGH2) to postaglandin D2 (PGD2). PGD2 functions as a neuromodulator as well as a trophic factor in the central nervous system. PGD2 is also involved in smooth muscle contraction/relaxation and is a potent inhibitor of platelet aggregation. This gene is preferentially expressed in brain. Studies with transgenic mice overexpressing this gene suggest that this gene may be also involved in the regulation of non-rapid eye movement sleep. [provided by RefSeq, Jul 2008]
PTGER2	chr14	52314305	52328606	+	ENSG00000125384.6	protein_coding	EP2	14q22.1	prostaglandin E receptor 2	This gene encodes a receptor for prostaglandin E2, a metabolite of arachidonic acid which has different biologic activities in a wide range of tissues. Mutations in this gene are associated with aspirin-induced susceptibility to asthma. [provided by RefSeq, Oct 2009]
PTGER3	chr1	70852353	71047808	-	ENSG00000050628.20	protein_coding	EP3|EP3-I|EP3-II|EP3-III|EP3-IV|EP3-VI|EP3e|PGE2-R|lnc003875	1p31.1	prostaglandin E receptor 3	The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor may have many biological functions, which involve digestion, nervous system, kidney reabsorption, and uterine contraction activities. Studies of the mouse counterpart suggest that this receptor may also mediate adrenocorticotropic hormone response as well as fever generation in response to exogenous and endogenous stimuli. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
PTGER4	chr5	40679498	40693735	+	ENSG00000171522.5	protein_coding	EP4|EP4R	5p13.1	prostaglandin E receptor 4	The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). This receptor can activate T-cell factor signaling. It has been shown to mediate PGE2 induced expression of early growth response 1 (EGR1), regulate the level and stability of cyclooxygenase-2 mRNA, and lead to the phosphorylation of glycogen synthase kinase-3. Knockout studies in mice suggest that this receptor may be involved in the neonatal adaptation of circulatory system, osteoporosis, as well as initiation of skin immune responses. [provided by RefSeq, Jul 2008]
PTGES	chr9	129738331	129753047	-	ENSG00000148344.10	protein_coding	MGST-IV|MGST1-L1|MGST1L1|MPGES|PGES|PIG12|PP102|PP1294|TP53I12|mPGES-1	9q34.11	prostaglandin E synthase	The protein encoded by this gene is a glutathione-dependent prostaglandin E synthase. The expression of this gene has been shown to be induced by proinflammatory cytokine interleukin 1 beta (IL1B). Its expression can also be induced by tumor suppressor protein TP53, and may be involved in TP53 induced apoptosis. Knockout studies in mice suggest that this gene may contribute to the pathogenesis of collagen-induced arthritis and mediate acute pain during inflammatory responses. [provided by RefSeq, Jul 2008]
PTGES2	chr9	128120693	128128462	-	ENSG00000148334.14	protein_coding	C9orf15|GBF-1|GBF1|PGES2|mPGES-2	9q34.11	prostaglandin E synthase 2	The protein encoded by this gene is a membrane-associated prostaglandin E synthase, which catalyzes the conversion of prostaglandin H2 to prostaglandin E2. This protein also has been shown to activate the transcription regulated by a gamma-interferon-activated transcription element (GATE). Multiple transcript variants have been found for this gene. [provided by RefSeq, Jun 2009]
PTGES2-AS1	chr9	128128529	128130628	+	ENSG00000232850.3	lincRNA	-	9q34.11	PTGES2 antisense RNA 1 (head to head)	-
PTGES3	chr12	56663341	56688408	-	ENSG00000110958.15	protein_coding	P23|TEBP|cPGES	12q13.3|12	prostaglandin E synthase 3	This gene encodes an enzyme that converts prostaglandin endoperoxide H2 (PGH2) to prostaglandin E2 (PGE2). This protein functions as a co-chaperone with heat shock protein 90 (HSP90), localizing to response elements in DNA and disrupting transcriptional activation complexes. Alternative splicing results in multiple transcript variants. There are multiple pseudogenes of this gene on several different chromosomes. [provided by RefSeq, Feb 2016]
PTGES3L	chr17	42968088	42980433	-	ENSG00000267060.5	protein_coding	-	17q21.31	prostaglandin E synthase 3 like	-
PTGES3P1	chr1	89104285	89104767	-	ENSG00000234518.2	processed_pseudogene	PTGES3P	1p22.2	prostaglandin E synthase 3 pseudogene 1	-
PTGES3P2	chr2	25822469	25822950	+	ENSG00000217643.1	processed_pseudogene	-	2p23.3	prostaglandin E synthase 3 pseudogene 2	-
PTGFR	chr1	78303884	78539749	+	ENSG00000122420.9	protein_coding	FP	1p31.1	prostaglandin F receptor	The protein encoded by this gene is member of the G-protein coupled receptor family. This protein is a receptor for prostaglandin F2-alpha (PGF2-alpha), which is known to be a potent luteolytic agent, and may also be involved in modulating intraocular pressure and smooth muscle contraction in uterus. Knockout studies in mice suggest that the interaction of PGF2-alpha with this receptor may initiate parturition in ovarian luteal cells and thus induce luteolysis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PTGFRN	chr1	116910057	116990358	+	ENSG00000134247.9	protein_coding	CD315|CD9P-1|EWI-F|FPRP|SMAP-6	1p13.1	prostaglandin F2 receptor inhibitor	Ubiquitous expression in heart (RPKM 21.3), endometrium (RPKM 18.0) and 24 other tissues
PTGIR	chr19	46620468	46625118	-	ENSG00000160013.8	protein_coding	IP|PRIPR	19q13.32	prostaglandin I2 receptor	The protein encoded by this gene is a member of the G-protein coupled receptor family 1 and has been shown to be a receptor for prostacyclin. Prostacyclin, the major product of cyclooxygenase in macrovascular endothelium, elicits a potent vasodilation and inhibition of platelet aggregation through binding to this receptor. [provided by RefSeq, Jul 2008]
PTGIS	chr20	49503874	49568146	-	ENSG00000124212.5	protein_coding	CYP8|CYP8A1|PGIS|PTGI	20q13.13	prostaglandin I2 synthase	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. [provided by RefSeq, Jul 2008]
PTGR1	chr9	111549722	111599855	-	ENSG00000106853.18	protein_coding	DIG-1|LTB4DH|PGR1|ZADH3	9q31.3	prostaglandin reductase 1	This gene encodes an enzyme that is involved in the inactivation of the chemotactic factor, leukotriene B4. The encoded protein specifically catalyzes the NADP+ dependent conversion of leukotriene B4 to 12-oxo-leukotriene B4. A pseudogene of this gene is found on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
PTGR2	chr14	73851844	73886827	+	ENSG00000140043.11	protein_coding	HEL-S-298|PGR2|ZADH1	14q24.3	prostaglandin reductase 2	This gene encodes an enzyme involved in the metabolism of prostaglandins. The encoded protein catalyzes the NADPH-dependent conversion of 15-keto-prostaglandin E2 to 15-keto-13,14-dihydro-prostaglandin E2. This protein may also be involved in regulating activation of the peroxisome proliferator-activated receptor. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
PTGS1	chr9	122370530	122395703	+	ENSG00000095303.14	protein_coding	COX1|COX3|PCOX1|PES-1|PGG/HS|PGHS-1|PGHS1|PHS1|PTGHS	9q33.2	prostaglandin-endoperoxide synthase 1	This is one of two genes encoding similar enzymes that catalyze the conversion of arachidonate to prostaglandin. The encoded protein regulates angiogenesis in endothelial cells, and is inhibited by nonsteroidal anti-inflammatory drugs such as aspirin. Based on its ability to function as both a cyclooxygenase and as a peroxidase, the encoded protein has been identified as a moonlighting protein. The protein may promote cell proliferation during tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2021]
PTGS2	chr1	186671791	186680427	-	ENSG00000073756.11	protein_coding	COX-2|COX2|GRIPGHS|PGG/HS|PGHS-2|PHS-2|hCox-2	1q31.1	prostaglandin-endoperoxide synthase 2	Prostaglandin-endoperoxide synthase (PTGS), also known as cyclooxygenase, is the key enzyme in prostaglandin biosynthesis, and acts both as a dioxygenase and as a peroxidase. There are two isozymes of PTGS: a constitutive PTGS1 and an inducible PTGS2, which differ in their regulation of expression and tissue distribution. This gene encodes the inducible isozyme. It is regulated by specific stimulatory events, suggesting that it is responsible for the prostanoid biosynthesis involved in inflammation and mitogenesis. [provided by RefSeq, Feb 2009]
PTH1R	chr3	46877746	46903799	+	ENSG00000160801.13	protein_coding	EKNS|PFE|PTHR|PTHR1	3p21.31	parathyroid hormone 1 receptor	The protein encoded by this gene is a member of the G-protein coupled receptor family 2. This protein is a receptor for parathyroid hormone (PTH) and for parathyroid hormone-like hormone (PTHLH). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system. Defects in this receptor are known to be the cause of Jansens metaphyseal chondrodysplasia (JMC), chondrodysplasia Blomstrand type (BOCD), as well as enchodromatosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]
PTHLH	chr12	27958084	27972705	-	ENSG00000087494.15	protein_coding	BDE2|HHM|PLP|PTHR|PTHRP	12p11.22	parathyroid hormone like hormone	The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It is responsible for most cases of humoral hypercalcemia of malignancy, and mutations in this gene are associated with brachydactyly type E2 (BDE2). Alternatively spliced transcript variants have been found for this gene. There is also evidence for alternative translation initiation from non-AUG (CUG and GUG) start sites, downstream of the initiator AUG codon, resulting in nuclear forms of this hormone. [provided by RefSeq, Nov 2013]
PTK2	chr8	140657900	141002216	-	ENSG00000169398.19	protein_coding	FADK|FADK 1|FAK|FAK1|FRNK|PPP1R71|p125FAK|pp125FAK	8q24.3	protein tyrosine kinase 2	This gene encodes a cytoplasmic protein tyrosine kinase which is found concentrated in the focal adhesions that form between cells growing in the presence of extracellular matrix constituents. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Activation of this gene may be an important early step in cell growth and intracellular signal transduction pathways triggered in response to certain neural peptides or to cell interactions with the extracellular matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]
PTK2B	chr8	27311482	27459391	+	ENSG00000120899.17	protein_coding	CADTK|CAKB|FADK2|FAK2|PKB|PTK|PYK2|RAFTK	8p21.2	protein tyrosine kinase 2 beta	This gene encodes a cytoplasmic protein tyrosine kinase which is involved in calcium-induced regulation of ion channels and activation of the map kinase signaling pathway. The encoded protein may represent an important signaling intermediate between neuropeptide-activated receptors or neurotransmitters that increase calcium flux and the downstream signals that regulate neuronal activity. The encoded protein undergoes rapid tyrosine phosphorylation and activation in response to increases in the intracellular calcium concentration, nicotinic acetylcholine receptor activation, membrane depolarization, or protein kinase C activation. This protein has been shown to bind CRK-associated substrate, nephrocystin, GTPase regulator associated with FAK, and the SH2 domain of GRB2. The encoded protein is a member of the FAK subfamily of protein tyrosine kinases but lacks significant sequence similarity to kinases from other subfamilies. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PTK6	chr20	63528001	63537370	-	ENSG00000101213.6	protein_coding	BRK	20q13.33	protein tyrosine kinase 6	The protein encoded by this gene is a cytoplasmic nonreceptor protein kinase which may function as an intracellular signal transducer in epithelial tissues. Overexpression of this gene in mammary epithelial cells leads to sensitization of the cells to epidermal growth factor and results in a partially transformed phenotype. Expression of this gene has been detected at low levels in some breast tumors but not in normal breast tissue. The encoded protein has been shown to undergo autophosphorylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PTK7	chr6	43076268	43161719	+	ENSG00000112655.15	protein_coding	CCK-4|CCK4	6p21.1	protein tyrosine kinase 7 (inactive)	This gene encodes a member of the receptor protein tyrosine kinase family of proteins that transduce extracellular signals across the cell membrane. The encoded protein lacks detectable catalytic tyrosine kinase activity, is involved in the Wnt signaling pathway and plays a role in multiple cellular processes including polarity and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
PTMA	chr2	231706895	231713541	+	ENSG00000187514.16	protein_coding	TMSA	2q37.1	prothymosin alpha	Ubiquitous expression in bone marrow (RPKM 272.9), lymph node (RPKM 218.9) and 25 other tissues
PTMS	chr12	6765516	6770952	+	ENSG00000159335.15	protein_coding	ParaT	12p13.31	parathymosin	Ubiquitous expression in liver (RPKM 104.5), prostate (RPKM 75.7) and 24 other tissues
PTN	chr7	137227341	137343865	-	ENSG00000105894.11	protein_coding	HARP|HB-GAM|HBBM|HBGF-8|HBGF8|HBNF|HBNF-1|NEGF1|OSF-1	7q33	pleiotrophin	The protein encoded by this gene is a secreted heparin-binding growth factor. The protein has significant roles in cell growth and survival, cell migration, angiogenesis and tumorigenesis. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]
PTOV1	chr19	49850735	49860744	+	ENSG00000104960.15	protein_coding	ACID2|PTOV-1	19q13.33	PTOV1 extended AT-hook containing adaptor protein	This gene encodes a protein that was found to be overexpressed in prostate adenocarcinomas. The encoded protein was found to interact with the lipid raft protein flotillin-1 and shuttle it from the cytoplasm to the nucleus in a cell cycle dependent manner. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PTP4A1	chr6	63521748	63583587	+	ENSG00000112245.10	protein_coding	HH72|PRL-1|PRL1|PTP(CAAX1)|PTPCAAX1	6q12	protein tyrosine phosphatase 4A1	This gene encodes a member of a small class of prenylated protein tyrosine phosphatases (PTPs), which contain a PTP domain and a characteristic C-terminal prenylation motif. The encoded protein is a cell signaling molecule that plays regulatory roles in a variety of cellular processes, including cell proliferation and migration. The protein may also be involved in cancer development and metastasis. This tyrosine phosphatase is a nuclear protein, but may associate with plasma membrane by means of its prenylation motif. Pseudogenes related to this gene are located on chromosomes 1, 2, 5, 7, 11 and X. [provided by RefSeq, Jun 2013]
PTP4A1P2	chr12	133033503	133033956	+	ENSG00000255807.1	processed_pseudogene	-	12q24.33	PTP4A1 pseudogene 2	-
PTP4A2	chr1	31906421	31944856	-	ENSG00000184007.18	protein_coding	HH13|HH7-2|HU-PP-1|OV-1|PRL-2|PRL2|PTP4A|PTPCAAX2|ptp-IV1a|ptp-IV1b	1p35.2	protein tyrosine phosphatase 4A2	The protein encoded by this gene belongs to a small class of the protein tyrosine phosphatase (PTP) family. PTPs are cell signaling molecules that play regulatory roles in a variety of cellular processes. PTPs in this class contain a protein tyrosine phosphatase catalytic domain and a characteristic C-terminal prenylation motif. This PTP has been shown to primarily associate with plasmic and endosomal membrane through its C-terminal prenylation. This PTP was found to interact with the beta-subunit of Rab geranylgeranyltransferase II (beta GGT II), and thus may function as a regulator of GGT II activity. Overexpression of this gene in mammalian cells conferred a transformed phenotype, which suggested its role in tumorigenesis. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 11, 12 and 17. [provided by RefSeq, Aug 2010]
PTP4A2P1	chr17	42533532	42534009	+	ENSG00000267185.1	processed_pseudogene	PTP4AP1|h-PRL-1	17q21.2	PTP4A2 pseudogene 1	-
PTP4A2P2	chr11	134123828	134124329	-	ENSG00000254481.1	processed_pseudogene	PTP4AP2	11q25	PTP4A2 pseudogene 2	-
PTP4A3	chr8	141391993	141432454	+	ENSG00000184489.11	protein_coding	PRL-3|PRL-R|PRL3	8q24.3	protein tyrosine phosphatase 4A3	This gene encodes a member of the protein-tyrosine phosphatase family. Protein tyrosine phosphatases are cell signaling molecules that play regulatory roles in a variety of cellular processes. Studies of this class of protein tyrosine phosphatase in mice demonstrates that they are prenylated in vivo, suggesting their association with cell plasma membrane. The encoded protein may enhance cell proliferation, and overexpression of this gene has been implicated in tumor metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PTPA	chr9	129110950	129148946	+	ENSG00000119383.19	protein_coding	PP2A|PPP2R4|PR53	9q34.11	protein phosphatase 2 phosphatase activator	Protein phosphatase 2A is one of the four major Ser/Thr phosphatases and is implicated in the negative control of cell growth and division. Protein phosphatase 2A holoenzymes are heterotrimeric proteins composed of a structural subunit A, a catalytic subunit C, and a regulatory subunit B. The regulatory subunit is encoded by a diverse set of genes that have been grouped into the B/PR55, B/PR61, and B/PR72 families. These different regulatory subunits confer distinct enzymatic specificities and intracellular localizations to the holozenzyme. The product of this gene belongs to the B family. This gene encodes a specific phosphotyrosyl phosphatase activator of the dimeric form of protein phosphatase 2A. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PTPDC1	chr9	94030794	94109856	+	ENSG00000158079.14	protein_coding	PTP9Q22	9q22.32	protein tyrosine phosphatase domain containing 1	The protein encoded by this gene contains a characteristic motif of protein tyrosine phosphatases (PTPs). PTPs regulate activities of phosphoproteins through dephosphorylation. They are signaling molecules involved in the regulation of a wide variety of biological processes. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
PTPMT1	chr11	47565430	47573461	+	ENSG00000110536.13	protein_coding	DUSP23|MOSP|PLIP|PNAS-129	11p11.2	protein tyrosine phosphatase mitochondrial 1	Ubiquitous expression in testis (RPKM 16.1), brain (RPKM 11.9) and 25 other tissues
PTPN1	chr20	50510321	50585241	+	ENSG00000196396.9	protein_coding	PTP1B	20q13.13	protein tyrosine phosphatase non-receptor type 1	The protein encoded by this gene is the founding member of the protein tyrosine phosphatase (PTP) family, which was isolated and identified based on its enzymatic activity and amino acid sequence. PTPs catalyze the hydrolysis of the phosphate monoesters specifically on tyrosine residues. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP has been shown to act as a negative regulator of insulin signaling by dephosphorylating the phosphotryosine residues of insulin receptor kinase. This PTP was also reported to dephosphorylate epidermal growth factor receptor kinase, as well as JAK2 and TYK2 kinases, which implicated the role of this PTP in cell growth control, and cell response to interferon stimulation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
PTPN11	chr12	112418351	112509913	+	ENSG00000179295.17	protein_coding	BPTP3|CFC|JMML|METCDS|NS1|PTP-1D|PTP2C|SH-PTP2|SH-PTP3|SHP2	12q24.13	protein tyrosine phosphatase non-receptor type 11	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]
PTPN12	chr7	77537275	77640071	+	ENSG00000127947.15	protein_coding	PTP-PEST|PTPG1	7q11.23	protein tyrosine phosphatase non-receptor type 12	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
PTPN13	chr4	86594315	86815171	+	ENSG00000163629.12	protein_coding	FAP-1|PNP1|PTP-BAS|PTP-BL|PTP1E|PTPL1|PTPLE|hPTP1E	4q21.3	protein tyrosine phosphatase non-receptor type 13	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 2008]
PTPN14	chr1	214348696	214552449	-	ENSG00000152104.11	protein_coding	CATLPH|PEZ|PTP36|PTPD2	1q32.3-q41	protein tyrosine phosphatase non-receptor type 14	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]
PTPN2	chr18	12785478	12929643	-	ENSG00000175354.18	protein_coding	PTN2|PTPT|TC-PTP|TCELLPTP|TCPTP	18p11.21	protein tyrosine phosphatase non-receptor type 2	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. Members of the PTP family share a highly conserved catalytic motif, which is essential for the catalytic activity. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Epidermal growth factor receptor and the adaptor protein Shc were reported to be substrates of this PTP, which suggested the roles in growth factor mediated cell signaling. Multiple alternatively spliced transcript variants encoding different isoforms have been found. Two highly related but distinctly processed pseudogenes that localize to chromosomes 1 and 13, respectively, have been reported. [provided by RefSeq, May 2011]
PTPN21	chr14	88465778	88554733	-	ENSG00000070778.12	protein_coding	PTPD1|PTPRL10	14q31.3	protein tyrosine phosphatase non-receptor type 21	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain, similar to cytoskeletal- associated proteins including band 4.1, ezrin, merlin, and radixin. This PTP was shown to specially interact with BMX/ETK, a member of Tec tyrosine kinase family characterized by a multimodular structures including PH, SH3, and SH2 domains. The interaction of this PTP with BMX kinase was found to increase the activation of STAT3, but not STAT2 kinase. Studies of the similar gene in mice suggested the possible roles of this PTP in liver regeneration and spermatogenesis. [provided by RefSeq, Jul 2008]
PTPN22	chr1	113813811	113871759	-	ENSG00000134242.15	protein_coding	LYP|LYP1|LYP2|PEP|PTPN22.5|PTPN22.6|PTPN8	1p13.2	protein tyrosine phosphatase non-receptor type 22	This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009]
PTPN23	chr3	47381011	47413441	+	ENSG00000076201.14	protein_coding	HD-PTP|HDPTP|NEDBASS|PTP-TD14	3p21.31	protein tyrosine phosphatase non-receptor type 23	This gene encodes a member of the non-receptor type protein-tyrosine phosphatase family. The encoded protein may be involved in the regulation of small nuclear ribonucleo protein assembly and pre-mRNA splicing by modifying the survival motor neuron (SMN) complex. The encoded protein additionally plays a role in ciliogenesis and is part of endosomal sorting complex required for transport (ESCRT) pathways. This gene may serve a tumor suppressor function. [provided by RefSeq, Jul 2016]
PTPN3	chr9	109375466	109498313	-	ENSG00000070159.13	protein_coding	PTP-H1|PTPH1	9q31.3	protein tyrosine phosphatase non-receptor type 3	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
PTPN4	chr2	119759631	119983818	+	ENSG00000088179.8	protein_coding	MEG|PTPMEG|PTPMEG1	2q14.2	protein tyrosine phosphatase non-receptor type 4	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. [provided by RefSeq, Jul 2008]
PTPN6	chr12	6946468	6961316	+	ENSG00000111679.16	protein_coding	HCP|HCPH|HPTP1C|PTP-1C|SH-PTP1|SHP-1|SHP-1L|SHP1	12p13.31	protein tyrosine phosphatase non-receptor type 6	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. N-terminal part of this PTP contains two tandem Src homolog (SH2) domains, which act as protein phospho-tyrosine binding domains, and mediate the interaction of this PTP with its substrates. This PTP is expressed primarily in hematopoietic cells, and functions as an important regulator of multiple signaling pathways in hematopoietic cells. This PTP has been shown to interact with, and dephosphorylate a wide spectrum of phospho-proteins involved in hematopoietic cell signaling. Multiple alternatively spliced variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
PTPN7	chr1	202147013	202161588	-	ENSG00000143851.15	protein_coding	BPTP-4|HEPTP|LC-PTP|LPTP|PTPNI	1q32.1	protein tyrosine phosphatase non-receptor type 7	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This gene is preferentially expressed in a variety of hematopoietic cells, and is an early response gene in lymphokine stimulated cells. The non-catalytic N-terminus of this PTP can interact with MAP kinases and suppress the MAP kinase activities. This PTP was shown to be involved in the regulation of T cell antigen receptor (TCR) signaling, which was thought to function through dephosphorylating the molecules related to MAP kinase pathway. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2010]
PTPN9	chr15	75463251	75579289	-	ENSG00000169410.9	protein_coding	MEG2|PTPMEG2	15q24.2	protein tyrosine phosphatase non-receptor type 9	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain that shares a significant similarity with yeast SEC14, which is a protein that has phosphatidylinositol transfer activity and is required for protein secretion through the Golgi complex in yeast. This PTP was found to be activated by polyphosphoinositide, and is thought to be involved in signaling events regulating phagocytosis. [provided by RefSeq, Jul 2008]
PTPRA	chr20	2864184	3039076	+	ENSG00000132670.20	protein_coding	HEPTP|HLPR|HPTPA|HPTPalpha|LRP|PTPA|PTPRL2|R-PTP-alpha|RPTPA	20p13	protein tyrosine phosphatase receptor type A	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. This PTP has been shown to dephosphorylate and activate Src family tyrosine kinases, and is implicated in the regulation of integrin signaling, cell adhesion and proliferation. Three alternatively spliced variants of this gene, which encode two distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
PTPRC	chr1	198638671	198757283	+	ENSG00000081237.18	protein_coding	B220|CD45|CD45R|GP180|L-CA|LCA|LY5|T200	1q31.3-q32.1	protein tyrosine phosphatase receptor type C	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitosis, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus is classified as a receptor type PTP. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jun 2012]
PTPRCAP	chr11	67435510	67438067	-	ENSG00000213402.2	protein_coding	CD45-AP|LPAP	11q13.2	protein tyrosine phosphatase receptor type C associated protein	The protein encoded by this gene was identified as a transmembrane phosphoprotein specifically associated with tyrosine phosphatase PTPRC/CD45, a key regulator of T- and B-lymphocyte activation. The interaction with PTPRC may be required for the stable expression of this protein. [provided by RefSeq, Jul 2008]
PTPRD	chr9	8314246	10612723	-	ENSG00000153707.16	protein_coding	HPTP|HPTPD|HPTPDELTA|PTPD|R-PTP-delta|RPTPDELTA	9p24.1-p23	protein tyrosine phosphatase receptor type D	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of three Ig-like and eight fibronectin type III-like domains. Studies of the similar genes in chicken and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple alternatively spliced transcript variants of this gene have been reported. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jan 2010]
PTPRD-AS1	chr9	8858130	8862255	+	ENSG00000225706.1	lincRNA	-	9p24.1	PTPRD antisense RNA 1	-
PTPRE	chr10	127907061	128085855	+	ENSG00000132334.16	protein_coding	HPTPE|PTPE|R-PTP-EPSILON	10q26.2	protein tyrosine phosphatase receptor type E	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. Several alternatively spliced transcript variants of this gene have been reported, at least two of which encode a receptor-type PTP that possesses a short extracellular domain, a single transmembrane region, and two tandem intracytoplasmic catalytic domains; another one encodes a PTP that contains a distinct hydrophilic N-terminus, and thus represents a nonreceptor-type isoform of this PTP. Studies of the similar gene in mice suggested the regulatory roles of this PTP in RAS related signal transduction pathways, cytokine-induced SATA signaling, as well as the activation of voltage-gated K+ channels. [provided by RefSeq, Oct 2015]
PTPRF	chr1	43525187	43623666	+	ENSG00000142949.16	protein_coding	BNAH2|LAR	1p34.2	protein tyrosine phosphatase receptor type F	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains three Ig-like domains, and nine non-Ig like domains similar to that of neural-cell adhesion molecule. This PTP was shown to function in the regulation of epithelial cell-cell contacts at adherents junctions, as well as in the control of beta-catenin signaling. An increased expression level of this protein was found in the insulin-responsive tissue of obese, insulin-resistant individuals, and may contribute to the pathogenesis of insulin resistance. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
PTPRG	chr3	61561569	62297613	+	ENSG00000144724.19	protein_coding	HPTPG|PTPG|R-PTP-GAMMA|RPTPG	3p14.2	protein tyrosine phosphatase receptor type G	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this PTP contains a carbonic anhydrase-like (CAH) domain, which is also found in the extracellular region of PTPRBETA/ZETA. This gene is located in a chromosomal region that is frequently deleted in renal cell carcinoma and lung carcinoma, thus is thought to be a candidate tumor suppressor gene. [provided by RefSeq, Jul 2008]
PTPRH	chr19	55181248	55209506	-	ENSG00000080031.9	protein_coding	R-PTP-H|SAP1	19q13.42	protein tyrosine phosphatase receptor type H	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. The extracellular region contains eight fibronectin type III-like repeats and multiple N-glycosylation sites. The gene was shown to be expressed primarily in brain and liver, and at a lower level in heart and stomach. It was also found to be expressed in several cancer cell lines, but not in the corresponding normal tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]
PTPRJ	chr11	47980558	48170841	+	ENSG00000149177.12	protein_coding	CD148|DEP1|HPTPeta|R-PTP-ETA|SCC1	11p11.2	protein tyrosine phosphatase receptor type J	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes, including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region containing five fibronectin type III repeats, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. This protein is present in all hematopoietic lineages, and was shown to negatively regulate T cell receptor signaling possibly through interfering with the phosphorylation of Phospholipase C Gamma 1 and Linker for Activation of T Cells. This protein can also dephosphorylate the PDGF beta receptor, and may be involved in UV-induced signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PTPRK	chr6	127968779	128520674	-	ENSG00000152894.14	protein_coding	R-PTP-kappa	6q22.33	protein tyrosine phosphatase receptor type K	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP was shown to mediate homophilic intercellular interaction, possibly through the interaction with beta- and gamma-catenin at adherens junctions. Expression of this gene was found to be stimulated by TGF-beta 1, which may be important for the inhibition of keratinocyte proliferation. [provided by RefSeq, Jul 2008]
PTPRM	chr18	7566782	8406861	+	ENSG00000173482.16	protein_coding	PTPRL1|R-PTP-MU|RPTPM|RPTPU|hR-PTPu	18p11.23	protein tyrosine phosphatase receptor type M	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PTPRN	chr2	219289623	219309648	-	ENSG00000054356.13	protein_coding	IA-2|IA-2/PTP|IA2|ICA512|R-PTP-N	2q35	protein tyrosine phosphatase receptor type N	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]
PTPRN2	chr7	157539056	158587788	-	ENSG00000155093.17	protein_coding	IA-2beta|IAR|ICAAR|PTPRP|R-PTP-N2	7q36.3	protein tyrosine phosphatase receptor type N2	This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PTPRO	chr12	15322397	15597399	+	ENSG00000151490.13	protein_coding	GLEPP1|NPHS6|PTP-OC|PTP-U2|PTPROT|PTPU2|R-PTP-O	12p12.3|12p13-p12	protein tyrosine phosphatase receptor type O	This gene encodes a member of the R3 subtype family of receptor-type protein tyrosine phosphatases. These proteins are localized to the apical surface of polarized cells and may have tissue-specific functions through activation of Src family kinases. This gene contains two distinct promoters, and alternatively spliced transcript variants encoding multiple isoforms have been observed. The encoded proteins may have multiple isoform-specific and tissue-specific functions, including the regulation of osteoclast production and activity, inhibition of cell proliferation and facilitation of apoptosis. This gene is a candidate tumor suppressor, and decreased expression of this gene has been observed in several types of cancer. [provided by RefSeq, May 2011]
PTPRR	chr12	70638073	70920843	-	ENSG00000153233.12	protein_coding	EC-PTP|PCPTP1|PTP-SL|PTPBR7|PTPRQ	12q15	protein tyrosine phosphatase receptor type R	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single intracellular catalytic domain, and thus represents a receptor-type PTP. Silencing of this gene has been associated with colorectal cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares a symbol (PTPRQ) with another gene, protein tyrosine phosphatase, receptor type, Q (GeneID 374462), which is also located on chromosome 12. [provided by RefSeq, May 2011]
PTPRS	chr19	5158495	5340803	-	ENSG00000105426.16	protein_coding	PTPSIGMA|R-PTP-S|R-PTP-sigma	19p13.3	protein tyrosine phosphatase receptor type S	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of multiple Ig-like and fibronectin type III-like domains. Studies of the similar gene in mice suggested that this PTP may be involved in cell-cell interaction, primary axonogenesis, and axon guidance during embryogenesis. This PTP has been also implicated in the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
PTPRT	chr20	42072752	43189970	-	ENSG00000196090.12	protein_coding	R-PTP-T|RPTP-rho|RPTPrho	20q12-q13.11	protein tyrosine phosphatase receptor type T	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
PTPRU	chr1	29236516	29326813	+	ENSG00000060656.19	protein_coding	FMI|PCP-2|PTP|PTP-J|PTP-PI|PTP-RO|PTPPSI|PTPRO|PTPU2|R-PTP-PSI|R-PTP-U|hPTP-J	1p35.3	protein tyrosine phosphatase receptor type U	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Alternatively spliced transcript variants have been reported. [provided by RefSeq, Aug 2010]
PTPRVP	chr1	202168051	202189455	+	ENSG00000243323.6	processed_transcript	ESP|OST-PTP|PTPRV	1q32.1	protein tyrosine phosphatase receptor type V, pseudogene	Biased expression in testis (RPKM 1.9), duodenum (RPKM 0.2) and 7 other tissues
PTPRZ1	chr7	121873089	122062036	+	ENSG00000106278.11	protein_coding	HPTPZ|HPTPzeta|PTP-ZETA|PTP18|PTPRZ|PTPZ|R-PTP-zeta-2|RPTPB|RPTPbeta|phosphacan	7q31.32	protein tyrosine phosphatase receptor type Z1	This gene encodes a member of the receptor protein tyrosine phosphatase family. Expression of this gene is restricted to the central nervous system (CNS), and it may be involved in the regulation of specific developmental processes in the CNS. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]
PTRH1	chr9	127692978	127724873	-	ENSG00000187024.13	protein_coding	C9orf115|PTH1	9q34.11	peptidyl-tRNA hydrolase 1 homolog	Broad expression in kidney (RPKM 2.9), testis (RPKM 2.7) and 25 other tissues
PTRH2	chr17	59674636	59707626	-	ENSG00000141378.14	protein_coding	BIT1|CFAP37|CGI-147|IMNEPD|PTH|PTH 2|PTH2	17q23.1	peptidyl-tRNA hydrolase 2	The protein encoded by this gene is a mitochondrial protein with two putative domains, an N-terminal mitochondrial localization sequence, and a UPF0099 domain. In vitro assays suggest that this protein possesses peptidyl-tRNA hydrolase activity, to release the peptidyl moiety from tRNA, thereby preventing the accumulation of dissociated peptidyl-tRNA that could reduce the efficiency of translation. This protein also plays a role regulating cell survival and death. It promotes survival as part of an integrin-signaling pathway for cells attached to the extracellular matrix (ECM), but also promotes apoptosis in cells that have lost their attachment to the ECM, a process called anoikos. After loss of cell attachment to the ECM, this protein is phosphorylated, is released from the mitochondria into the cytosol, and promotes caspase-independent apoptosis through interactions with transcriptional regulators. This gene has been implicated in the development and progression of tumors, and mutations in this gene have been associated with an infantile multisystem neurologic, endocrine, and pancreatic disease (INMEPD) characterized by intellectual disability, postnatal microcephaly, progressive cerebellar atrophy, hearing impairment, polyneuropathy, failure to thrive, and organ fibrosis with exocrine pancreas insufficiency (PMID: 25574476). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
PTRHD1	chr2	24789734	24793382	-	ENSG00000184924.5	protein_coding	C2orf79	2p23.3	peptidyl-tRNA hydrolase domain containing 1	This gene encodes the enzyme peptidyl-tRNA hydrolase. Peptidyl-tRNA hydrolases perform the essential function of recycling peptidyl-tRNAs. Mutations in this gene are associated with autosomal-recessive intellectual disability and parkinsonism. [provided by RefSeq, May 2017]
PTS	chr11	112226365	112269955	+	ENSG00000150787.7	protein_coding	PTPS	11q23.1	6-pyruvoyltetrahydropterin synthase	The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008]
PTTG1IP	chr21	44849585	44873903	-	ENSG00000183255.11	protein_coding	C21orf1|C21orf3|PBF	21q22.3	PTTG1 interacting protein	This gene encodes a single-pass type I integral membrane protein, which binds to pituitary tumor-transforming 1 protein (PTTG1), and facilitates translocation of PTTG1 into the nucleus. Coexpression of this protein and PTTG1 induces transcriptional activation of basic fibroblast growth factor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013]
PTTG3P	chr8	66767400	66768005	-	ENSG00000213005.3	processed_pseudogene	PTTG3|rcPTTG1	8q13.1	pituitary tumor-transforming 3, pseudogene	-
PTTG4P	chr14	71085482	71085833	-	ENSG00000258571.1	processed_pseudogene	-	14q24.2	pituitary tumor-transforming 4 pseudogene	-
PTX3	chr3	157436789	157443628	+	ENSG00000163661.3	protein_coding	TNFAIP5|TSG-14	3q25.32	pentraxin 3	This gene encodes a member of the pentraxin protein family. The expression of this protein is induced by inflammatory cytokines in response to inflammatory stimuli in several mesenchymal and epithelial cell types, particularly endothelial cells and mononuclear phagocytes. The protein promotes fibrocyte differentiation and is involved in regulating inflammation and complement activation. It also plays a role in angiogenesis and tissue remodeling. The protein serves as a biomarker for several inflammatory conditions. [provided by RefSeq, Jun 2016]
PTX4	chr16	1485886	1488981	-	ENSG00000251692.7	protein_coding	C16orf38	16p13.3	pentraxin 4	This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016]
PUF60	chr8	143816344	143829859	-	ENSG00000179950.13	protein_coding	FIR|RoBPI|SIAHBP1|VRJS	8q24.3	poly(U) binding splicing factor 60	This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
PUM1	chr1	30931506	31065991	-	ENSG00000134644.15	protein_coding	HSPUM|PUMH|PUMH1|PUML1|SCA47	1p35.2	pumilio RNA binding family member 1	This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3 untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PUM2	chr2	20248691	20352234	-	ENSG00000055917.15	protein_coding	PUMH2|PUML2	2p24.1	pumilio RNA binding family member 2	This gene encodes a protein that belongs to a family of RNA-binding proteins. The encoded protein functions as a translational repressor during embryonic development and cell differentiation. This protein is also thought to be a positive regulator of cell proliferation in adipose-derived stem cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PURA	chr5	140107777	140125619	+	ENSG00000185129.5	protein_coding	MRD31|NEDRIHF|PUR-ALPHA|PUR1|PURALPHA	5q31.3	purine rich element binding protein A	This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008]
PURB	chr7	44876293	44885361	-	ENSG00000146676.8	protein_coding	PURBETA	7p13	purine rich element binding protein B	This gene product is a sequence-specific, single-stranded DNA-binding protein. It binds preferentially to the single strand of the purine-rich element termed PUR, which is present at origins of replication and in gene flanking regions in a variety of eukaryotes from yeasts through humans. Thus, it is implicated in the control of both DNA replication and transcription. Deletion of this gene has been associated with myelodysplastic syndrome and acute myelogenous leukemia. [provided by RefSeq, Jul 2008]
PURG	chr8	30995802	31033715	-	ENSG00000172733.11	protein_coding	PURG-A|PURG-B|PURGA|PURGB	8p12	purine rich element binding protein G	The exact function of this gene is not known, however, its encoded product is highly similar to purine-rich element binding protein A. The latter is a DNA-binding protein which binds preferentially to the single strand of the purine-rich element termed PUR, and has been implicated in the control of both DNA replication and transcription. This gene lies in close proximity to the Werner syndrome gene, but on the opposite strand, on chromosome 8p11. [provided by RefSeq, Apr 2016]
PUS1	chr12	131929200	131945896	+	ENSG00000177192.13	protein_coding	MLASA1	12q24.33	pseudouridine synthase 1	This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
PUS10	chr2	60940222	61018259	-	ENSG00000162927.13	protein_coding	CCDC139|DOBI|Hup10	2p16.1-p15	pseudouridine synthase 10	Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. These enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et al., 2007 [PubMed 17900615]).[supplied by OMIM, May 2009]
PUS3	chr11	125893485	125903221	-	ENSG00000110060.8	protein_coding	2610020J05Rik|FKSG32|MRT55|NEDMIGS	11q24.2	pseudouridine synthase 3	The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
PUS7	chr7	105439661	105522267	-	ENSG00000091127.13	protein_coding	IDDABS	7q22.3	pseudouridine synthase 7	Ubiquitous expression in thyroid (RPKM 5.5), skin (RPKM 3.6) and 25 other tissues
PUSL1	chr1	1308567	1311677	+	ENSG00000169972.11	protein_coding	-	1p36.33	pseudouridine synthase like 1	-
PVALB	chr22	36800684	36819479	-	ENSG00000100362.12	protein_coding	D22S749	22q12.3	parvalbumin	The protein encoded by this gene is a high affinity calcium ion-binding protein that is structurally and functionally similar to calmodulin and troponin C. The encoded protein is thought to be involved in muscle relaxation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PVALEF	chr17	 81165507	81183166	+	ENSG00000225180	protein-coding	AATK-AS1	17q25.3	parvalbumin like EF-hand containing	Low expression observed in reference dataset
PVR	chr19	44643798	44663583	+	ENSG00000073008.14	protein_coding	CD155|HVED|NECL5|Necl-5|PVS|TAGE4	19q13.31	PVR cell adhesion molecule	The protein encoded by this gene is a transmembrane glycoprotein belonging to the immunoglobulin superfamily. The external domain mediates cell attachment to the extracellular matrix molecule vitronectin, while its intracellular domain interacts with the dynein light chain Tctex-1/DYNLT1. The gene is specific to the primate lineage, and serves as a cellular receptor for poliovirus in the first step of poliovirus replication. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PVRIG	chr7	100218241	100221490	+	ENSG00000213413.2	protein_coding	C7orf15|CD112R	7q22.1	PVR related immunoglobulin domain containing	Broad expression in lymph node (RPKM 13.9), spleen (RPKM 12.7) and 25 other tissues
PVT1	chr8	127794533	128101253	+	ENSG00000249859.9	lincRNA	LINC00079|MIR1204HG|NCRNA00079|onco-lncRNA-100	8q24.21	Pvt1 oncogene	This gene represents a long non-coding RNA locus that has been identified as a candidate oncogene. Increased copy number and overexpression of this gene are associated with many types of cancers including breast and ovarian cancers, acute myeloid leukemia and Hodgkin lymphoma. Allelic variants of this gene are also associated with end-stage renal disease attributed to type 1 diabetes. Consistent with its association with various types of cancer, transcription of this gene is regulated by the tumor suppressor p53 through a canonical p53-binding site, and it has been implicated in regulating levels of the proto-oncogene MYC to promote tumorigenesis. [provided by RefSeq, Sep 2015]
PWP1	chr12	107685732	107713167	+	ENSG00000136045.11	protein_coding	IEF-SSP-9502	12q23.3	PWP1 homolog, endonuclein	The protein encoded by this gene contains several WD-40 repeats and is found mostly in the nucleus. The expression and localization of this protein are cell cycle dependent. Expression of this gene is upregulated in pancreatic adenocarcinoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
PWWP2A	chr5	160061801	160119423	-	ENSG00000170234.12	protein_coding	MST101	5q33.3	PWWP domain containing 2A	Enables chromatin binding activity and histone binding activity. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
PWWP2B	chr10	132397168	132417863	+	ENSG00000171813.13	protein_coding	PWWP2|bA432J24.1|pp8607	10q26.3	PWWP domain containing 2B	Ubiquitous expression in spleen (RPKM 6.8), colon (RPKM 6.1) and 25 other tissues
PWWP3B	chrX	 106168305	106208956	+	ENSG00000157502	protein-coding	MUM1L1	Xq22.3	PWWP domain containing 3B	This gene encodes a protein which contains a mutated melanoma-associated antigen 1 domain. Proteins which contain mutated antigens are expressed at high levels on certain types of cancers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]
PXDN	chr2	1631887	1744852	-	ENSG00000130508.10	protein_coding	ASGD7|COPOA|D2S448|D2S448E|MG50|PRG2|PXN|VPO	2p25.3	peroxidasin	This gene encodes a heme-containing peroxidase that is secreted into the extracellular matrix. It is involved in extracellular matrix formation, and may function in the physiological and pathological fibrogenic response in fibrotic kidney. Mutations in this gene cause corneal opacification and other ocular anomalies, and also microphthalmia and anterior segment dysgenesis. [provided by RefSeq, Aug 2014]
PXDNL	chr8	51319578	51809445	-	ENSG00000147485.12	protein_coding	PMR1|PRM1|VPO2	8q11.22-q11.23	peroxidasin like	Biased expression in heart (RPKM 10.6), testis (RPKM 1.5) and 1 other tissue
PXK	chr3	58332880	58426126	+	ENSG00000168297.15	protein_coding	MONAKA|SLOB	3p14.3	PX domain containing serine/threonine kinase like	This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PXMP2	chr12	132687606	132704991	+	ENSG00000176894.9	protein_coding	MPV17L3|PMP22	12q24.33	peroxisomal membrane protein 2	Broad expression in liver (RPKM 47.9), kidney (RPKM 25.6) and 25 other tissues
PXMP4	chr20	33702754	33720319	-	ENSG00000101417.11	protein_coding	PMP24	20q11.22	peroxisomal membrane protein 4	Ubiquitous expression in lung (RPKM 6.4), thyroid (RPKM 4.6) and 25 other tissues
PXN	chr12	120210439	120265771	-	ENSG00000089159.16	protein_coding	-	12q24.23	paxillin	Ubiquitous expression in placenta (RPKM 24.8), fat (RPKM 20.4) and 25 other tissues
PXN-AS1	chr12	120201291	120213138	+	ENSG00000255857.5	antisense	EyeLinc4	12q24.23	PXN antisense RNA 1	-
PXT1	chr6	36390551	36442889	-	ENSG00000179165.10	protein_coding	STEPP	6p21.31	peroxisomal testis enriched protein 1	Biased expression in testis (RPKM 1.3), bone marrow (RPKM 0.1) and 1 other tissue
PXYLP1	chr3	141228726	141367753	+	ENSG00000155893.12	protein_coding	ACPL2|HEL124|XYLP	3q23	2-phosphoxylose phosphatase 1	Ubiquitous expression in brain (RPKM 6.1), placenta (RPKM 4.7) and 25 other tissues
PYCARD	chr16	31201485	31203450	-	ENSG00000103490.13	protein_coding	ASC|CARD5|TMS|TMS-1|TMS1	16p11.2	PYD and CARD domain containing	This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD and CARD domains are members of the six-helix bundle death domain-fold superfamily that mediates assembly of large signaling complexes in the inflammatory and apoptotic signaling pathways via the activation of caspase. In normal cells, this protein is localized to the cytoplasm; however, in cells undergoing apoptosis, it forms ball-like aggregates near the nuclear periphery. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PYCARD-AS1	chr16	31201885	31203452	+	ENSG00000261359.2	antisense	C16orf98|PYCARDOS	16p11.2	PYCARD antisense RNA 1	Broad expression in colon (RPKM 8.4), spleen (RPKM 6.8) and 18 other tissues
PYCR1	chr17	81932384	81942412	-	ENSG00000183010.16	protein_coding	ARCL2B|ARCL3B|P5C|P5CR|PIG45|PP222|PRO3|PYCR	17q25.3	pyrroline-5-carboxylate reductase 1	This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PYCR2	chr1	225919877	225924340	-	ENSG00000143811.18	protein_coding	HLD10|P5CR2	1q42.12	pyrroline-5-carboxylate reductase 2	This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline biosynthesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]
PYCR3	chr8	 143603210	143609575	-	ENSG00000104524	protein-coding	PYCRL	8q24.3	pyrroline-5-carboxylate reductase 3	This gene encodes a protein that belongs to the pyrroline-5-carboxylate reductase family of enzymes. Members of this family catalyze the final step in proline biosynthesis, converting pyrroline-5-carboxylate to proline. Glutamate and ornithine are precursors in the synthesis of proline. The protein encoded by this gene is a cytoplasmic enzyme involved in the biosynthesis of proline from ornithine. [provided by RefSeq, Aug 2016]
PYDC1	chr16	31215962	31217359	-	ENSG00000169900.7	protein_coding	ASC2|POP1|PYC1|cPOP1	16p11.2	pyrin domain containing 1	Biased expression in skin (RPKM 1.7), brain (RPKM 0.2) and 1 other tissue
PYGB	chr20	25248069	25298014	+	ENSG00000100994.11	protein_coding	GPBB	20p11.21	glycogen phosphorylase B	The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008]
PYGL	chr14	50857891	50944736	-	ENSG00000100504.16	protein_coding	GSD6	14q22.1	glycogen phosphorylase L	This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]
PYGM	chr11	64746389	64760297	-	ENSG00000068976.13	protein_coding	GSD5	11q13.1	glycogen phosphorylase, muscle associated	This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
PYGO1	chr15	55538890	55588947	-	ENSG00000171016.11	protein_coding	-	15q21.3	pygopus family PHD finger 1	-
PYGO2	chr1	154957026	154963853	-	ENSG00000163348.3	protein_coding	1190004M21Rik	1q21.3	pygopus family PHD finger 2	Ubiquitous expression in thyroid (RPKM 16.3), ovary (RPKM 15.1) and 25 other tissues
PYM1	chr12	55901413	55932618	-	ENSG00000170473.16	protein_coding	PYM|WIBG	12q13.2	PYM homolog 1, exon junction complex associated factor	Ubiquitous expression in esophagus (RPKM 16.0), colon (RPKM 12.9) and 25 other tissues
PYROXD2	chr10	98383565	98415184	-	ENSG00000119943.12	protein_coding	C10orf33|FP3420|YUEF	10q24.2	pyridine nucleotide-disulphide oxidoreductase domain 2	Ubiquitous expression in prostate (RPKM 2.4), ovary (RPKM 1.9) and 25 other tissues
PYY	chr17	43952738	44004469	-	ENSG00000131096.10	protein_coding	PYY-I|PYY1	17q21.31	peptide YY	This gene encodes a member of the neuropeptide Y (NPY) family of peptides. The encoded preproprotein is proteolytically processed to generate two alternative peptide products that differ in length by three amino acids. These peptides, secreted by endocrine cells in the gut, exhibit different binding affinities for each of the neuropeptide Y receptors. Binding of the encoded peptides to these receptors mediates regulation of pancreatic secretion, gut mobility and energy homeostasis. Rare variations in this gene could increase susceptibility to obesity and elevated serum levels of the encoded peptides may be associated with anorexia nervosa. [provided by RefSeq, Feb 2016]
PZP	chr12	9148840	9208370	-	ENSG00000126838.9	protein_coding	CPAMD6	12p13.31	PZP alpha-2-macroglobulin like	The protein encoded by this gene is highly expressed in late-pregnancy serum and is similar in structure to alpha-2-macroglobulin. The encoded protein, which acts as a homotetramer, inhibits the activity of all four classes of proteinases. This protein contains cleavage sites for several proteinases. Upon binding of a proteinase, the conformation of this protein changes to trap the proteinase, limiting its activity. This protein appears to be elevated in the sera of presymptomatic Alzheimers disease patients. [provided by RefSeq, Dec 2016]
QDPR	chr4	17460261	17512234	-	ENSG00000151552.11	protein_coding	DHPR|HDHPR|PKU2|SDR33C1	4p15.32	quinoid dihydropteridine reductase	This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin.  This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations.  Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]
QKI	chr6	163414000	163578596	+	ENSG00000112531.16	protein_coding	Hqk|QK|QK1|QK3|hqkI	6q26	QKI, KH domain containing RNA binding	The protein encoded by this gene is an RNA-binding protein that regulates pre-mRNA splicing, export of mRNAs from the nucleus, protein translation, and mRNA stability. The encoded protein is involved in myelinization and oligodendrocyte differentiation and may play a role in schizophrenia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
QPCT	chr2	37344574	37373322	+	ENSG00000115828.15	protein_coding	GCT|QC|sQC	2p22.2	glutaminyl-peptide cyclotransferase	This gene encodes human pituitary glutaminyl cyclase, which is responsible for the presence of pyroglutamyl residues in many neuroendocrine peptides. The amino acid sequence of this enzyme is 86% identical to that of bovine glutaminyl cyclase. [provided by RefSeq, Jul 2008]
QPCTL	chr19	45692483	45703989	+	ENSG00000011478.11	protein_coding	gQC	19q13.32	glutaminyl-peptide cyclotransferase like	Ubiquitous expression in thyroid (RPKM 3.4), prostate (RPKM 3.3) and 25 other tissues
QPRT	chr16	29679008	29698699	+	ENSG00000103485.17	protein_coding	HEL-S-90n|QPRTase	16p11.2	quinolinate phosphoribosyltransferase	This gene encodes a key enzyme in catabolism of quinolinate, an intermediate in the tryptophan-nicotinamide adenine dinucleotide pathway. Quinolinate acts as a most potent endogenous exitotoxin to neurons. Elevation of quinolinate levels in the brain has been linked to the pathogenesis of neurodegenerative disorders such as epilepsy, Alzheimers disease, and Huntingtons disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
QRFP	chr9	130892702	130896812	-	ENSG00000188710.2	protein_coding	26RFa|P518	9q34.12	pyroglutamylated RFamide peptide	This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. The encoded products are members of the RFamide family of neuropeptides, characterized by their common protein C-terminus consisting of an arginine (R) and an amidated phenylalanine (F). These products include the neuropeptides 26RFa and the N-terminally extended form, 43RFa. Both of these neuropeptides bind to the pyroglutamylated RFamide peptide receptor (QRFPR) and may regulate blood pressure, reproduction and food intake in rodents. [provided by RefSeq, Jul 2015]
QRICH1	chr3	49029707	49094363	-	ENSG00000198218.10	protein_coding	AB-DIP|VERBRAS	3p21.31	glutamine rich 1	Ubiquitous expression in testis (RPKM 28.0), bone marrow (RPKM 21.2) and 25 other tissues
QRICH2	chr17	76274049	76307998	-	ENSG00000129646.14	protein_coding	SPGF35	17q25.1	glutamine rich 2	Biased expression in testis (RPKM 5.3), thyroid (RPKM 0.7) and 9 other tissues
QRSL1	chr6	106629578	106668417	+	ENSG00000130348.11	protein_coding	COXPD40|GatA	6q21	glutaminyl-tRNA amidotransferase subunit QRSL1	Ubiquitous expression in lymph node (RPKM 7.2), thyroid (RPKM 5.6) and 25 other tissues
QSER1	chr11	32893178	32993316	+	ENSG00000060749.14	protein_coding	-	11p13	glutamine and serine rich 1	-
QSOX1	chr1	180154834	180204030	+	ENSG00000116260.16	protein_coding	Q6|QSCN6	1q25.2	quiescin sulfhydryl oxidase 1	This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene plays an important role in growth regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
QSOX2	chr9	136206333	136245841	-	ENSG00000165661.16	protein_coding	QSCN6L1|SOXN	9q34.3	quiescin sulfhydryl oxidase 2	QSOX2 is a member of the sulfhydryl oxidase/quiescin-6 (Q6) family (QSOX1; MIM 603120) that regulates the sensitization of neuroblastoma cells for IFN-gamma (IFNG; MIM 147570)-induced cell death (Wittke et al., 2003 [PubMed 14633699]).[supplied by OMIM, Jun 2009]
QTRT1	chr19	10701430	10713437	+	ENSG00000213339.8	protein_coding	FP3235|TGT|TGUT	19p13.2	queuine tRNA-ribosyltransferase catalytic subunit 1	This gene encodes the catalytic subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine and tyrosine. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, Feb 2012]
QTRT2	chr3	114005833	114088422	+	ENSG00000151576.10	protein_coding	QTRTD1	3q13.31	queuine tRNA-ribosyltransferase accessory subunit 2	This gene encodes a subunit of tRNA-guanine transglycosylase. tRNA-guanine transglycosylase is a heterodimeric enzyme complex that plays a critical role in tRNA modification by synthesizing the 7-deazaguanosine queuosine, which is found in tRNAs that code for asparagine, aspartic acid, histidine, and tyrosine. The encoded protein may play a role in the queuosine 5-monophosphate salvage pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
R3HCC1	chr8	23270120	23296279	+	ENSG00000104679.10	protein_coding	-	8p21.3	R3H domain and coiled-coil containing 1	-
R3HCC1L	chr10	98134624	98244897	+	ENSG00000166024.13	protein_coding	C10orf28|GIDRP86|GIDRP88|PSORT	10q24.2	R3H domain and coiled-coil containing 1 like	Broad expression in testis (RPKM 8.9), bone marrow (RPKM 4.0) and 25 other tissues
R3HDM1	chr2	135531455	135725270	+	ENSG00000048991.16	protein_coding	R3HDM	2q21.3	R3H domain containing 1	Broad expression in brain (RPKM 20.1), testis (RPKM 10.5) and 23 other tissues
R3HDM2	chr12	57253762	57431005	-	ENSG00000179912.20	protein_coding	CAG6|PR01365	12q13.3	R3H domain containing 2	Ubiquitous expression in brain (RPKM 15.1), testis (RPKM 12.9) and 25 other tissues
R3HDM4	chr19	896503	913245	-	ENSG00000198858.9	protein_coding	C19orf22	19p13.3	R3H domain containing 4	Ubiquitous expression in bone marrow (RPKM 39.3), appendix (RPKM 29.8) and 25 other tissues
RAB10	chr2	26034107	26137454	+	ENSG00000084733.10	protein_coding	-	2p23.3	RAB10, member RAS oncogene family	Ubiquitous expression in esophagus (RPKM 102.3), colon (RPKM 40.9) and 25 other tissues
RAB11A	chr15	65726054	65891991	+	ENSG00000103769.9	protein_coding	YL8	15q22.31	RAB11A, member RAS oncogene family	The protein encoded by this gene belongs to the Rab family of the small GTPase superfamily. It is associated with both constitutive and regulated secretory pathways, and may be involved in protein transport. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
RAB11B	chr19	8389981	8404434	+	ENSG00000185236.11	protein_coding	H-YPT3|NDAGSCW	19p13.2	RAB11B, member RAS oncogene family	The Ras superfamily of small GTP-binding proteins, which includes the Ras (see MIM 190020), Ral (see MIM 179550), Rho (see MIM 165390), Rap (see MIM 179520), and Rab (see MIM 179508) families, is involved in controlling a diverse set of essential cellular functions. The Rab family, including RAB11B, appears to play a critical role in regulating exocytotic and endocytotic pathways (summary by Zhu et al., 1994 [PubMed 7811277]).[supplied by OMIM, Nov 2010]
RAB11B-AS1	chr19	8374373	8390685	-	ENSG00000269386.5	antisense	MIR4999HG	19p13.2	RAB11B antisense RNA 1	Ubiquitous expression in fat (RPKM 5.6), kidney (RPKM 5.2) and 25 other tissues
RAB11FIP1	chr8	37858618	37899467	-	ENSG00000156675.15	protein_coding	NOEL1A|RCP|rab11-FIP1	8p11.23	RAB11 family interacting protein 1	This gene encodes one of the Rab11-family interacting proteins (Rab11-FIPs), which play a role in the Rab-11 mediated recycling of vesicles. The encoded protein may be involved in endocytic sorting, trafficking of proteins including integrin subunits and epidermal growth factor receptor (EGFR), and transport between the recycling endosome and the trans-Golgi network. Alternative splicing results in multiple transcript variants. A pseudogene is described on the X chromosome. [provided by RefSeq, Dec 2013]
RAB11FIP2	chr10	118004916	118046603	-	ENSG00000107560.10	protein_coding	Rab11-FIP2|nRip11	10q26.11	RAB11 family interacting protein 2	Ubiquitous expression in endometrium (RPKM 12.0), brain (RPKM 9.2) and 25 other tissues
RAB11FIP3	chr16	425619	523011	+	ENSG00000090565.15	protein_coding	CART1|FIP3-Rab11|Rab11-FIP3	16p13.3	RAB11 family interacting protein 3	Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008]
RAB11FIP4	chr17	31391624	31538217	+	ENSG00000131242.17	protein_coding	FIP4-Rab11|RAB11-FIP4	17q11.2	RAB11 family interacting protein 4	The protein encoded by this gene interacts with RAB11 and is thought to be involved in bringing recycling endosome membranes to the cleavage furrow in late cytokinesis. Hypoxic conditions can lead to an upregulation of the encoded protein and enhance the metastatic potential of hepatocellular carcinoma. [provided by RefSeq, Oct 2016]
RAB11FIP5	chr2	73073382	73156721	-	ENSG00000135631.16	protein_coding	GAF1|RIP11|gaf-1|pp75|rab11-FIP5	2p13.2	RAB11 family interacting protein 5	Broad expression in testis (RPKM 48.5), kidney (RPKM 16.7) and 18 other tissues
RAB12	chr18	8609445	8639381	+	ENSG00000206418.3	protein_coding	-	18p11.22	RAB12, member RAS oncogene family	-
RAB13	chr1	153981617	153986358	-	ENSG00000143545.8	protein_coding	GIG4	1q21.3	RAB13, member RAS oncogene family	This gene is a member of the Rab family of small G proteins and plays a role in regulating membrane trafficking between trans-Golgi network (TGN) and recycling endosomes (RE). The encoded protein is involved in the assembly of tight junctions, which are components of the apical junctional complex (AJC) of epithelial cells. The AJC plays a role in forming a barrier between luminal contents and the underlying tissue. Additional functions associated with the protein include endocytic recycling of occludin, regulation of epithelial cell scattering, neuronal regeneration and regulation of neurite outgrowth. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 12. [provided by RefSeq, Jan 2013]
RAB14	chr9	121178137	121223014	-	ENSG00000119396.10	protein_coding	FBP|RAB-14	9q33.2	RAB14, member RAS oncogene family	RAB14 belongs to the large RAB family of low molecular mass GTPases that are involved in intracellular membrane trafficking. These proteins act as molecular switches that flip between an inactive GDP-bound state and an active GTP-bound state in which they recruit downstream effector proteins onto membranes (Junutula et al., 2004 [PubMed 15004230]).[supplied by OMIM, Mar 2009]
RAB15	chr14	64945814	64972776	-	ENSG00000139998.14	protein_coding	-	14q23.3	RAB15, member RAS oncogene family	-
RAB17	chr2	237574322	237601614	-	ENSG00000124839.12	protein_coding	-	2q37.3	RAB17, member RAS oncogene family	Biased expression in duodenum (RPKM 20.0), small intestine (RPKM 19.8) and 12 other tissues
RAB18	chr10	27504174	27542237	+	ENSG00000099246.16	protein_coding	RAB18LI1|WARBM3	10p12.1	RAB18, member RAS oncogene family	The protein encoded by this gene is a member of a family of Ras-related small GTPases that regulate membrane trafficking in organelles and transport vesicles. Knockdown studies is zebrafish suggest that this protein may have a role in eye and brain development. Mutations in this gene are associated with Warburg micro syndrome type 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
RAB19	chr7	140404043	140426250	+	ENSG00000146955.10	protein_coding	RAB19B	7q34	RAB19, member RAS oncogene family	Broad expression in colon (RPKM 1.1), thyroid (RPKM 1.0) and 15 other tissues
RAB1A	chr2	65070701	65130106	-	ENSG00000138069.16	protein_coding	RAB1|YPT1	2p14	RAB1A, member RAS oncogene family	This gene encodes a member of the Ras superfamily of GTPases. Members of the gene family cycle between inactive GDP-bound and active GTP-bound forms. This small GTPase controls vesicle traffic from the endoplasmic reticulum to the Golgi apparatus. Multiple alternatively spliced transcript variants have been identified for this gene which encode different protein isoforms. [provided by RefSeq, Oct 2008]
RAB1B	chr11	66268533	66277492	+	ENSG00000174903.15	protein_coding	-	11q13.2	RAB1B, member RAS oncogene family	Ubiquitous expression in prostate (RPKM 64.5), fat (RPKM 64.0) and 25 other tissues
RAB20	chr13	110523066	110561733	-	ENSG00000139832.4	protein_coding	-	13q34	RAB20, member RAS oncogene family	-
RAB21	chr12	71754874	71800285	+	ENSG00000080371.5	protein_coding	-	12q21.1	RAB21, member RAS oncogene family	Ubiquitous expression in kidney (RPKM 10.9), adrenal (RPKM 10.2) and 25 other tissues
RAB22A	chr20	58309696	58367507	+	ENSG00000124209.3	protein_coding	-	20q13.32	RAB22A, member RAS oncogene family	Ubiquitous expression in brain (RPKM 7.8), adrenal (RPKM 6.5) and 25 other tissues
RAB23	chr6	57186992	57222314	-	ENSG00000112210.11	protein_coding	HSPC137	6p12.1-p11.2	RAB23, member RAS oncogene family	This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
RAB24	chr5	177301198	177303744	-	ENSG00000169228.13	protein_coding	-	5q35.3	RAB24, member RAS oncogene family	Ubiquitous expression in spleen (RPKM 20.5), appendix (RPKM 14.7) and 25 other tissues
RAB25	chr1	156061160	156070514	+	ENSG00000132698.14	protein_coding	CATX-8|RAB11C	1q22	RAB25, member RAS oncogene family	The protein encoded by this gene is a member of the RAS superfamily of small GTPases. The encoded protein is involved in membrane trafficking and cell survival. This gene has been found to be a tumor suppressor and an oncogene, depending on the context. Two variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2015]
RAB26	chr16	2140803	2154165	+	ENSG00000167964.12	protein_coding	V46133	16p13.3	RAB26, member RAS oncogene family	Members of the RAB protein family, including RAB26, are important regulators of vesicular fusion and trafficking. The RAB family of small G proteins regulates intercellular vesicle trafficking, including exocytosis, endocytosis, and recycling (summary by Seki et al., 2000 [PubMed 11043516]).[supplied by OMIM, Nov 2010]
RAB27A	chr15	55202966	55319113	-	ENSG00000069974.15	protein_coding	GS2|HsT18676|RAB27|RAM	15q21.3	RAB27A, member RAS oncogene family	The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
RAB27B	chr18	54717860	54895516	+	ENSG00000041353.9	protein_coding	C25KG	18q21.2	RAB27B, member RAS oncogene family	Members of the Rab protein family, including RAB27B, are prenylated, membrane-bound proteins involved in vesicular fusion and trafficking (Chen et al., 1997 [PubMed 9066979]).[supplied by OMIM, Nov 2010]
RAB29	chr1	205767986	205775460	-	ENSG00000117280.12	protein_coding	RAB7L|RAB7L1	1q32.1	RAB29, member RAS oncogene family	Broad expression in kidney (RPKM 27.5), thyroid (RPKM 17.1) and 24 other tissues
RAB2A	chr8	60516857	60623627	+	ENSG00000104388.14	protein_coding	LHX|RAB2	8q12.1-q12.2	RAB2A, member RAS oncogene family	The protein encoded by this gene belongs to the Rab family, members of which are small molecular weight guanosine triphosphatases (GTPases) that contain highly conserved domains involved in GTP binding and hydrolysis. The Rabs are membrane-bound proteins, involved in vesicular fusion and trafficking. This protein is a resident of pre-Golgi intermediates, and is required for protein transport from the endoplasmic reticulum (ER) to the Golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
RAB2B	chr14	21459020	21476973	-	ENSG00000129472.13	protein_coding	-	14q11.2	RAB2B, member RAS oncogene family	Ubiquitous expression in bone marrow (RPKM 6.9), testis (RPKM 6.8) and 25 other tissues
RAB30-DT	chr11	 83072066	83073712	+	-	ncRNA	RAB30-AS1	11q14.1	RAB30 divergent transcript	-
RAB31	chr18	9708165	9862551	+	ENSG00000168461.12	protein_coding	Rab22B	18p11.22	RAB31, member RAS oncogene family	Small GTP-binding proteins of the RAB family, such as RAB31, play essential roles in vesicle and granule targeting (Bao et al., 2002 [PubMed 11784320]).[supplied by OMIM, Jul 2009]
RAB32	chr6	146543693	146554965	+	ENSG00000118508.4	protein_coding	-	6q24.3	RAB32, member RAS oncogene family	Broad expression in bone marrow (RPKM 49.7), spleen (RPKM 19.8) and 23 other tissues
RAB34	chr17	28714281	28718429	-	ENSG00000109113.18	protein_coding	NARR|RAB39|RAH	17q11.2	RAB34, member RAS oncogene family	This gene encodes a protein belonging to the RAB family of proteins, which are small GTPases involved in protein transport. This family member is a Golgi-bound member of the secretory pathway that is involved in the repositioning of lysosomes and the activation of macropinocytosis. Alternative splicing of this gene results in multiple transcript variants. An alternatively spliced transcript variant produces the nine-amino acid residue-repeats (NARR) protein, which is a functionally distinct nucleolar protein resulting from a different reading frame. [provided by RefSeq, Dec 2016]
RAB35	chr12	120095095	120117502	-	ENSG00000111737.11	protein_coding	H-ray|RAB1C|RAY	12q24.23	RAB35, member RAS oncogene family	Ubiquitous expression in spleen (RPKM 16.4), appendix (RPKM 14.7) and 25 other tissues
RAB37	chr17	74670578	74747335	+	ENSG00000172794.19	protein_coding	-	17q25.1	RAB37, member RAS oncogene family	Broad expression in spleen (RPKM 9.4), bone marrow (RPKM 7.1) and 20 other tissues
RAB38	chr11	88113242	88175467	-	ENSG00000123892.11	protein_coding	NY-MEL-1|rrGTPbp	11q14.2	RAB38, member RAS oncogene family	Biased expression in skin (RPKM 6.0), esophagus (RPKM 5.8) and 13 other tissues
RAB3A	chr19	18196784	18204074	-	ENSG00000105649.9	protein_coding	-	19p13.11	RAB3A, member RAS oncogene family	-
RAB3B	chr1	51907956	51990764	-	ENSG00000169213.6	protein_coding	-	1p32.3	RAB3B, member RAS oncogene family	-
RAB3C	chr5	58582221	58859394	+	ENSG00000152932.7	protein_coding	-	5q11.2	RAB3C, member RAS oncogene family	Biased expression in brain (RPKM 24.5) and adrenal (RPKM 6.1)
RAB3D	chr19	11322046	11346270	-	ENSG00000105514.7	protein_coding	D2-2|GOV|RAB16|RAD3D	19p13.2	RAB3D, member RAS oncogene family	Ubiquitous expression in skin (RPKM 24.5), esophagus (RPKM 14.0) and 22 other tissues
RAB3GAP1	chr2	135052265	135176394	+	ENSG00000115839.17	protein_coding	MARTS2|P130|RAB3GAP|RAB3GAP130|WARBM1	2q21.3	RAB3 GTPase activating protein catalytic subunit 1	This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
RAB3GAP2	chr1	220148293	220272454	-	ENSG00000118873.15	protein_coding	MARTS1|RAB3-GAP150|RAB3GAP150|SPG69|WARBM2|p150	1q41	RAB3 GTPase activating non-catalytic protein subunit 2	The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]
RAB3IL1	chr11	61897301	61920269	-	ENSG00000167994.11	protein_coding	GRAB	11q12.2-q12.3	RAB3A interacting protein like 1	This gene encodes a guanine nucleotide exchange factor for the ras-related protein Rab3A. The encoded protein binds Rab3a and the inositol hexakisphosphate kinase InsP6K1. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2012]
RAB3IP	chr12	69738681	69823204	+	ENSG00000127328.21	protein_coding	RABIN3|RABIN8	12q15	RAB3A interacting protein	Broad expression in brain (RPKM 6.7), kidney (RPKM 6.6) and 24 other tissues
RAB40B	chr17	82654973	82698728	-	ENSG00000141542.10	protein_coding	RAR|SEC4L	17q25.3	RAB40B, member RAS oncogene family	The protein encoded by this gene has similarity to a yeast protein which suggests a role of the gene product in regulating secretory vesicles. [provided by RefSeq, Jul 2008]
RAB40C	chr16	589357	629272	+	ENSG00000197562.9	protein_coding	RARL|RASL8C	16p13.3	RAB40C, member RAS oncogene family	Ubiquitous expression in skin (RPKM 11.6), brain (RPKM 8.2) and 25 other tissues
RAB42	chr1	28592200	28595443	+	ENSG00000188060.7	protein_coding	-	1p35.3	RAB42, member RAS oncogene family	-
RAB43	chr3	129087569	129122801	-	ENSG00000172780.16	protein_coding	RAB11B|RAB41	3q21.3	RAB43, member RAS oncogene family	Ubiquitous expression in thyroid (RPKM 20.1), lung (RPKM 12.9) and 25 other tissues
RAB43P1	chr16	46626404	46626992	-	ENSG00000259856.1	processed_pseudogene	RAB41P|RAB43P	16q11.2	RAB43 pseudogene 1	-
RAB44	chr6	36697851	36733183	+	ENSG00000255587.7	protein_coding	RASD3|RASL13|dJ431A14.3	6p21.2	RAB44, member RAS oncogene family	Biased expression in bone marrow (RPKM 15.4) and lung (RPKM 0.4)
RAB4A	chr1	229271062	229305894	+	ENSG00000168118.11	protein_coding	HRES-1|HRES-1/RAB4|HRES1|RAB4	1q42.13	RAB4A, member RAS oncogene family	This gene is a member of the largest group in the Ras superfamily of small GTPases, which regulate membrane trafficking. The encoded protein is associated with early endosomes and is involved in their sorting and recycling. The protein also plays a role in regulating the recycling of receptors from endosomes to the plasma membrane. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]
RAB4B	chr19	40778216	40796938	+	ENSG00000167578.17	protein_coding	-	19q13.2	RAB4B, member RAS oncogene family	Ubiquitous expression in brain (RPKM 18.9), spleen (RPKM 18.3) and 25 other tissues
RAB5A	chr3	19947079	19985175	+	ENSG00000144566.10	protein_coding	RAB5	3p24.3	RAB5A, member RAS oncogene family	Enables GDP binding activity; GTP binding activity; and GTPase activity. Involved in several processes, including amyloid-beta clearance by transcytosis; early endosome to late endosome transport; and regulation of exocytosis. Located in several cellular components, including cytoplasmic side of early endosome membrane; nucleoplasm; and terminal bouton. [provided by Alliance of Genome Resources, Apr 2022]
RAB5B	chr12	55973913	55996683	+	ENSG00000111540.15	protein_coding	-	12q13.2	RAB5B, member RAS oncogene family	-
RAB5C	chr17	42124976	42155044	-	ENSG00000108774.14	protein_coding	L1880|RAB5CL|RAB5L|RABL	17q21.2	RAB5C, member RAS oncogene family	Members of the Rab protein family are small GTPases of the Ras superfamily that are thought to ensure fidelity in the process of docking and/or fusion of vesicles with their correct acceptor compartment (Han et al., 1996 [PubMed 8646882]).[supplied by OMIM, Nov 2010]
RAB5CP2	chr5	91476382	91477018	+	ENSG00000251356.1	processed_pseudogene	-	5q14.3	RAB5C, member RAS oncogene family pseudogene 2	-
RAB5IF	chr20	 36605779	36612557	+	ENSG00000101084	protein-coding	C20orf24|PNAS-11|RCAF1|RIP5	20q11.23	RAB5 interacting factor	Ubiquitous expression in bone marrow (RPKM 56.7), esophagus (RPKM 45.4) and 25 other tissues
RAB6A	chr11	73675638	73761137	-	ENSG00000175582.19	protein_coding	RAB6	11q13.4	RAB6A, member RAS oncogene family	This gene encodes a member of the RAB family, which belongs to the small GTPase superfamily. GTPases of the RAB family bind to various effectors to regulate the targeting and fusion of transport carriers to acceptor compartments. This protein is located at the Golgi apparatus, which regulates trafficking in both a retrograde (from early endosomes and Golgi to the endoplasmic reticulum) and an anterograde (from the Golgi to the plasma membrane) directions. Myosin II is an effector of this protein in these processes. This protein is also involved in assembly of human cytomegalovirus (HCMV) by interacting with the cellular protein Bicaudal D1, which interacts with the HCMV virion tegument protein, pp150. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
RAB6B	chr3	133824239	133895836	-	ENSG00000154917.10	protein_coding	-	3q22.1	RAB6B, member RAS oncogene family	-
RAB7A	chr3	128726122	128814796	+	ENSG00000075785.12	protein_coding	CMT2B|PRO2706|RAB7	3q21.3	RAB7A, member RAS oncogene family	RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. [provided by RefSeq, Jul 2008]
RAB7B	chr1	205976740	206003461	-	ENSG00000276600.4	protein_coding	RAB7	1q32.1	RAB7B, member RAS oncogene family	Predicted to enable GTP binding activity and GTPase activity. Involved in late endosome to Golgi transport; positive regulation of megakaryocyte differentiation; and regulation of gene expression. Located in cytoplasmic vesicle; lysosome; and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022]
RAB8A	chr19	16111629	16134234	+	ENSG00000167461.11	protein_coding	MEL|RAB8	19p13.11	RAB8A, member RAS oncogene family	The protein encoded by this gene is a member of the RAS superfamily which are small GTP/GDP-binding proteins with an average size of 200 amino acids. The RAS-related proteins of the RAB/YPT family may play a role in the transport of proteins from the endoplasmic reticulum to the Golgi and the plasma membrane. This protein shares 97%, 96%, and 51% similarity with the dog RAB8, mouse MEL, and mouse YPT1 proteins, respectively and contains the 4 GTP/GDP-binding sites that are present in all the RAS proteins. The putative effector-binding site of this protein is similar to that of the RAB/YPT proteins. However, this protein contains a C-terminal CAAX motif that is characteristic of many RAS superfamily members but which is not found in YPT1 and the majority of RAB proteins. Although this gene was isolated as a transforming gene from a melanoma cell line, no linkage between MEL and malignant melanoma has been demonstrable. This oncogene is located 800 kb distal to MY09B on chromosome 19p13.1. [provided by RefSeq, Jul 2008]
RAB8B	chr15	63189469	63267782	+	ENSG00000166128.12	protein_coding	-	15q22.2	RAB8B, member RAS oncogene family	Ubiquitous expression in bone marrow (RPKM 21.6), lymph node (RPKM 18.0) and 24 other tissues
RABAC1	chr19	41956681	41959390	-	ENSG00000105404.10	protein_coding	PRA1|PRAF1|YIP3	19q13.2	Rab acceptor 1	Ubiquitous expression in fat (RPKM 42.3), stomach (RPKM 42.2) and 25 other tissues
RABEP1	chr17	5282265	5385812	+	ENSG00000029725.16	protein_coding	RAB5EP|RABPT5	17p13.2	rabaptin, RAB GTPase binding effector protein 1	Ubiquitous expression in brain (RPKM 23.0), prostate (RPKM 14.6) and 25 other tissues
RABEP2	chr16	28904421	28936526	-	ENSG00000177548.12	protein_coding	FRA	16p11.2	rabaptin, RAB GTPase binding effector protein 2	Ubiquitous expression in prostate (RPKM 13.2), spleen (RPKM 11.9) and 25 other tissues
RABEPK	chr9	125200542	125234158	+	ENSG00000136933.16	protein_coding	RAB9P40|bA65N13.1|p40	9q33.3	Rab9 effector protein with kelch motifs	Ubiquitous expression in liver (RPKM 12.3), testis (RPKM 5.8) and 25 other tissues
RABGAP1	chr9	122940833	123104866	+	ENSG00000011454.16	protein_coding	GAPCENA|TBC1D11	9q33.2-q33.3	RAB GTPase activating protein 1	Ubiquitous expression in thyroid (RPKM 21.8), brain (RPKM 18.2) and 25 other tissues
RABGAP1L	chr1	174159410	174995308	+	ENSG00000152061.23	protein_coding	HHL|TBC1D18	1q25.1	RAB GTPase activating protein 1 like	Ubiquitous expression in heart (RPKM 7.5), brain (RPKM 5.9) and 25 other tissues
RABGAP1L-DT	chr1	 174121638	174159287	-	ENSG00000227373	ncRNA	-	1q25.1	RABGAP1L divergent transcript	-
RABGAP1L-IT1	chr1	174896958	174897996	+	ENSG00000223525.1	sense_intronic	-	1q25.1	RABGAP1L intronic transcript 1	-
RABGEF1	chr7	66628958	66811459	+	ENSG00000284461.1	protein_coding	RABEX5|RAP1|rabex-5	7q11.21	RAB guanine nucleotide exchange factor 1	RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010]
RABGEF1P1	chr7	 66530305	66592407	-	ENSG00000229180	pseudogene	GS1-124K5.11	7q11.21	RABGEF1 pseudogene 1	-
RABGGTA	chr14	24265538	24271739	-	ENSG00000100949.14	protein_coding	PTAR3	14q12	Rab geranylgeranyltransferase subunit alpha	Ubiquitous expression in esophagus (RPKM 19.5), lung (RPKM 8.4) and 25 other tissues
RABGGTB	chr1	75786197	75795079	+	ENSG00000137955.15	protein_coding	GGTB	1p31.1	Rab geranylgeranyltransferase subunit beta	This gene encodes the beta-subunit of the enzyme Rab geranylgeranyl-transferase (RabGGTase), which belongs to the protein prenyltransferase family. RabGGTase catalyzes the post-translational addition of geranylgeranyl groups to C-terminal cysteine residues of Rab GTPases. Three small nucleolar RNA genes are present in the intronic regions of this gene. Alternately spliced transcript variants have been observed for this gene. A pseudogene associated with this gene is located on chromosome 3. [provided by RefSeq, Jan 2013]
RABL2A	chr2	113627229	113643396	+	ENSG00000144134.18	protein_coding	-	2q14.1	RAB, member of RAS oncogene family like 2A	Ubiquitous expression in testis (RPKM 5.1), lung (RPKM 4.1) and 25 other tissues
RABL2B	chr22	50767501	50783663	-	ENSG00000079974.17	protein_coding	-	22q13.33	RAB, member of RAS oncogene family like 2B	Ubiquitous expression in testis (RPKM 7.7), lung (RPKM 6.5) and 25 other tissues
RABL6	chr9	136807943	136841187	+	ENSG00000196642.18	protein_coding	C9orf86|PARF|RBEL1|pp8875	9q34.3	RAB, member RAS oncogene family like 6	This gene encodes a member of the Ras superfamily of small GTPases. The encoded protein binds to both GTP and GDP and may play a role in cell growth and survival. Overexpression of this gene may play a role in breast cancer tumorigenesis, and pseudogenes of this gene are located on the long arm of chromosome 2 and the short arm of chromosome 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
RAC1	chr7	6374523	6403977	+	ENSG00000136238.17	protein_coding	MIG5|MRD48|Rac-1|TC-25|p21-Rac1	7p22.1	Rac family small GTPase 1	The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorganization, and the activation of protein kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
RAC2	chr22	37225261	37244448	-	ENSG00000128340.14	protein_coding	EN-7|Gx|HSPC022|IMD73A|IMD73B|IMD73C|p21-Rac2	22q13.1	Rac family small GTPase 2	This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013]
RAC3	chr17	82031624	82034204	+	ENSG00000169750.8	protein_coding	-	17q25.3	Rac family small GTPase 3	Note: RAC3 (Gene ID: 5881) and NCOA3 (Gene ID: 8202) share the RAC3 symbol/alias in common. RAC3 is a widely used alternative name for nuclear receptor coactivator 3 (NCOA3), which can be confused with the official symbol for ras-related C3 botulinum toxin substrate 3 (RAC3). [06 Jul 2018]
RACGAP1	chr12	49976923	50033136	-	ENSG00000161800.12	protein_coding	CYK4|HsCYK-4|ID-GAP|MgcRacGAP	12q13.12	Rac GTPase activating protein 1	This gene encodes a GTPase-activating protein (GAP) that is a compoment of the centralspindlin complex. This protein binds activated forms of Rho GTPases and stimulates GTP hydrolysis, which results in negative regulation of Rho-mediated signals. This protein plays a regulatory role in cytokinesis, cell growth, and differentiation. Alternatively spliced transcript variants have been found for this gene. There is a pseudogene for this gene on chromosome 12. [provided by RefSeq, Feb 2016]
RACK1	chr5	181236909	181248096	-	ENSG00000204628.11	protein_coding	GNB2L1|Gnb2-rs1|H12.3|HLC-7|PIG21	5q35.3	receptor for activated C kinase 1	Ubiquitous expression in ovary (RPKM 1262.3), lymph node (RPKM 598.8) and 25 other tissues
RAD17	chr5	69369293	69414801	+	ENSG00000152942.18	protein_coding	CCYC|HRAD17|R24L|RAD17SP|RAD24	5q13.2	RAD17 checkpoint clamp loader component	The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein shares strong similarity with DNA replication factor C (RFC), and can form a complex with RFCs. This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. This protein recruits the RAD1-RAD9-HUS1 checkpoint protein complex onto chromatin after DNA damage, which may be required for its phosphorylation. The phosphorylation of this protein is required for the DNA-damage-induced cell cycle G2 arrest, and is thought to be a critical early event during checkpoint signaling in DNA-damaged cells. Multiple alternatively spliced transcript variants of this gene, which encode four distinct protein isoforms, have been reported. Two pseudogenes, located on chromosomes 7 and 13, have been identified. [provided by RefSeq, Jul 2013]
RAD17P2	chr13	49044079	49046794	-	ENSG00000223724.1	processed_pseudogene	HRAD17P2	13q14.2	RAD17 pseudogene 2	-
RAD18	chr3	8775402	8963773	-	ENSG00000070950.9	protein_coding	RNF73	3p25.3	RAD18 E3 ubiquitin protein ligase	The protein encoded by this gene is highly similar to S. cerevisiae DNA damage repair protein Rad18. Yeast Rad18 functions through its interaction with Rad6, which is an ubiquitin-conjugating enzyme required for post-replication repair of damaged DNA. Similar to its yeast counterpart, this protein is able to interact with the human homolog of yeast Rad6 protein through a conserved ring-finger motif.  Mutation of this motif results in defective replication of UV-damaged DNA and hypersensitivity to multiple mutagens. [provided by RefSeq, Jul 2008]
RAD1P2	chr1	159081133	159081795	-	ENSG00000233473.2	processed_pseudogene	-	1q23.1	RAD1 pseudogene 2	-
RAD21	chr8	116845935	116874866	-	ENSG00000164754.14	protein_coding	CDLS4|HR21|HRAD21|MCD1|MGS|NXP1|SCC1|hHR21	8q24.11	RAD21 cohesin complex component	The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells. [provided by RefSeq, Jul 2008]
RAD23A	chr19	12945855	12953642	+	ENSG00000179262.9	protein_coding	HHR23A|HR23A	19p13.13	RAD23 homolog A, nucleotide excision repair protein	The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in nucleotide excision repair. Proteins in this family have a modular domain structure consisting of an ubiquitin-like domain (UbL), ubiquitin-associated domain 1 (UbA1), XPC-binding domain and UbA2. The protein encoded by this gene plays an important role in nucleotide excision repair and also in delivery of polyubiquitinated proteins to the proteasome. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012]
RAD23B	chr9	107283137	107332194	+	ENSG00000119318.12	protein_coding	HHR23B|HR23B|P58	9q31.2	RAD23 homolog B, nucleotide excision repair protein	The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in the nucleotide excision repair (NER). This protein was found to be a component of the protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-c) cell extracts in vitro. This protein was also shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, and thus this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2011]
RAD50	chr5	132556019	132646344	+	ENSG00000113522.13	protein_coding	NBSLD|RAD502|hRad50	5q31.1	RAD50 double strand break repair protein	The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]
RAD51	chr15	40694774	40732339	+	ENSG00000051180.16	protein_coding	BRCC5|FANCR|HRAD51|HsRad51|HsT16930|MRMV2|RAD51A|RECA	15q15.1	RAD51 recombinase	The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
RAD51-AS1	chr15	40686724	40695107	-	ENSG00000245849.6	processed_transcript	TODRA	15q15.1	RAD51 antisense RNA 1	Ubiquitous expression in thyroid (RPKM 4.6), prostate (RPKM 4.6) and 25 other tissues
RAD51AP1	chr12	4538798	4560048	+	ENSG00000111247.14	protein_coding	PIR51	12p13.32	RAD51 associated protein 1	Broad expression in bone marrow (RPKM 9.3), testis (RPKM 6.1) and 20 other tissues
RAD51AP2	chr2	17510584	17518439	-	ENSG00000214842.5	protein_coding	-	2p24.2	RAD51 associated protein 2	-
RAD51C	chr17	58692573	58735611	+	ENSG00000108384.14	protein_coding	BROVCA3|FANCO|R51H3|RAD51L2	17q22	RAD51 paralog C	This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
RAD52	chr12	912077	990053	-	ENSG00000002016.17	protein_coding	-	12p13.33	RAD52 homolog, DNA repair protein	Ubiquitous expression in fat (RPKM 4.4), skin (RPKM 4.2) and 25 other tissues
RAD54B	chr8	94371960	94475109	-	ENSG00000197275.13	protein_coding	RDH54	8q22.1	RAD54 homolog B	The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer. [provided by RefSeq, Jul 2008]
RAD54L	chr1	46247688	46278473	+	ENSG00000085999.11	protein_coding	HR54|RAD54A|hHR54|hRAD54	1p34.1	RAD54 like	The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]
RAD54L2	chr3	51541144	51668667	+	ENSG00000164080.13	protein_coding	ARIP4|HSPC325|SRISNF2L	3p21.2	RAD54 like 2	Ubiquitous expression in testis (RPKM 3.3), spleen (RPKM 2.8) and 25 other tissues
RAD9A	chr11	67317871	67398410	+	ENSG00000172613.7	protein_coding	RAD9	11q13.2	RAD9 checkpoint clamp component A	This gene product is highly similar to Schizosaccharomyces pombe rad9, a cell cycle checkpoint protein required for cell cycle arrest and DNA damage repair. This protein possesses 3 to 5 exonuclease activity, which may contribute to its role in sensing and repairing DNA damage. It forms a checkpoint protein complex with RAD1 and HUS1. This complex is recruited by checkpoint protein RAD17 to the sites of DNA damage, which is thought to be important for triggering the checkpoint-signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
RAD9B	chr12	110501655	110532086	+	ENSG00000151164.18	protein_coding	-	12q24.11	RAD9 checkpoint clamp component B	-
RAE1	chr20	57351010	57379211	+	ENSG00000101146.12	protein_coding	Gle2|MIG14|MRNP41|Mnrp41|dJ481F12.3|dJ800J21.1	20q13.31	ribonucleic acid export 1	Mutations in the Schizosaccharomyces pombe Rae1 and Saccharomyces cerevisiae Gle2 genes have been shown to result in accumulation of poly(A)-containing mRNA in the nucleus, suggesting that the encoded proteins are involved in RNA export. The protein encoded by this gene is a homolog of yeast Rae1. It contains four WD40 motifs, and has been shown to localize to distinct foci in the nucleoplasm, to the nuclear rim, and to meshwork-like structures throughout the cytoplasm. This gene is thought to be involved in nucleocytoplasmic transport, and in directly or indirectly attaching cytoplasmic mRNPs to the cytoskeleton. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
RAET1E	chr6	149883375	149898102	-	ENSG00000164520.11	protein_coding	LETAL|N2DL-4|NKG2DL4|RAET1E2|RL-4|ULBP4|bA350J20.7	6q25.1	retinoic acid early transcript 1E	This gene belong to the RAET1 family, which consists of major histocompatibility complex (MHC) class I-related genes located in a cluster on chromosome 6q24.2-q25.3. This and RAET1G protein differ from other RAET1 proteins in that they have type I membrane-spanning sequences at their C termini rather than glycosylphosphatidylinositol anchor sequences. This protein functions as a ligand for NKG2D receptor, which is expressed on the surface of several types of immune cells, and is involved in innate and adaptive immune responses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2011]
RAET1G	chr6	149916878	149923121	-	ENSG00000203722.7	protein_coding	ULBP5	6q25.1	retinoic acid early transcript 1G	This gene encodes a member of the major histocompatibility complex (MHC) class I family of proteins. Although the encoded protein includes C-terminal transmembrane and cytoplasmic domains, proteolytic processing results in the removal of these domains and subsequent tethering to the plasma membrane by a glycosylphosphatidylinositol (GPI)-anchor. The encoded protein is one of several related ligands of the natural killer group 2, member D (NKG2D) receptor, which functions as an activating receptor in innate and adaptive immunity. This gene is present in a gene cluster on chromosome 6. [provided by RefSeq, Jul 2015]
RAF1	chr3	12583601	12664226	-	ENSG00000132155.11	protein_coding	CMD1NN|CRAF|NS5|Raf-1|c-Raf	3p25.2	Raf-1 proto-oncogene, serine/threonine kinase	This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided by RefSeq, Jul 2008]
RAG1	chr11	36510709	36593156	+	ENSG00000166349.9	protein_coding	RAG-1|RNF74	11p12	recombination activating 1	The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases. [provided by RefSeq, Jul 2008]
RAI1	chr17	17681473	17811453	+	ENSG00000108557.18	protein_coding	SMCR|SMS	17p11.2	retinoic acid induced 1	This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. [provided by RefSeq, Jul 2008]
RAI14	chr5	34656237	34832627	+	ENSG00000039560.13	protein_coding	NORPEG|RAI13	5p13.2	retinoic acid induced 14	Predicted to enable actin binding activity. Predicted to be involved in several processes, including apoptotic signaling pathway; regulation of NIK/NF-kappaB signaling; and spermatogenesis. Located in cytosol; fibrillar center; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
RALA	chr7	39623483	39708124	+	ENSG00000006451.7	protein_coding	HINCONS|RAL	7p14.1	RAS like proto-oncogene A	The product of this gene belongs to the small GTPase superfamily, Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. This gene encodes a low molecular mass ras-like GTP-binding protein that shares about 50% similarity with other ras proteins. [provided by RefSeq, Jul 2008]
RALB	chr2	120240064	120294713	+	ENSG00000144118.13	protein_coding	-	2q14.2	RAS like proto-oncogene B	Ubiquitous expression in esophagus (RPKM 28.5), appendix (RPKM 25.0) and 25 other tissues
RALBP1	chr18	9475009	9538116	+	ENSG00000017797.12	protein_coding	RIP1|RLIP1|RLIP76	18p11.22	ralA binding protein 1	RALBP1 plays a role in receptor-mediated endocytosis and is a downstream effector of the small GTP-binding protein RAL (see RALA; MIM 179550). Small G proteins, such as RAL, have GDP-bound inactive and GTP-bound active forms, which shift from the inactive to the active state through the action of RALGDS (MIM 601619), which in turn is activated by RAS (see HRAS; MIM 190020) (summary by Feig, 2003 [PubMed 12888294]).[supplied by OMIM, Nov 2010]
RALGAPA1	chr14	35538352	35809304	-	ENSG00000174373.16	protein_coding	GARNL1|GRIPE|NEDHRIT|RalGAPalpha1|TULIP1|p240	14q13.2	Ral GTPase activating protein catalytic subunit alpha 1	This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016]
RALGAPA2	chr20	20389552	20712488	-	ENSG00000188559.13	protein_coding	AS250|C20orf74|bA287B20.1|dJ1049G11|dJ1049G11.4|p220	20p11.23	Ral GTPase activating protein catalytic subunit alpha 2	Ubiquitous expression in thyroid (RPKM 9.1), placenta (RPKM 6.4) and 25 other tissues
RALGAPB	chr20	38472816	38578861	+	ENSG00000170471.14	protein_coding	KIAA1219|RalGAPbeta	20q11.23	Ral GTPase activating protein non-catalytic subunit beta	Ubiquitous expression in thyroid (RPKM 11.6), testis (RPKM 11.5) and 25 other tissues
RALGDS	chr9	133097720	133149334	-	ENSG00000160271.14	protein_coding	RGDS|RGF|RalGEF	9q34.13-q34.2	ral guanine nucleotide dissociation stimulator	Guanine nucleotide dissociation stimulators (GDSs, or exchange factors), such as RALGDS, are effectors of Ras-related GTPases (see MIM 190020) that participate in signaling for a variety of cellular processes.[supplied by OMIM, Nov 2010]
RALGPS1	chr9	126914774	127223166	+	ENSG00000136828.18	protein_coding	RALGEF2|RALGPS1A	9q33.3	Ral GEF with PH domain and SH3 binding motif 1	Broad expression in small intestine (RPKM 6.1), duodenum (RPKM 5.9) and 24 other tissues
RALGPS2	chr1	178725147	178921841	+	ENSG00000116191.17	protein_coding	dJ595C2.1	1q25.2	Ral GEF with PH domain and SH3 binding motif 2	Broad expression in testis (RPKM 23.5), lymph node (RPKM 18.8) and 22 other tissues
RALY	chr20	33993646	34108308	+	ENSG00000125970.11	protein_coding	HNRPCL2|P542	20q11.22	RALY heterogeneous nuclear ribonucleoprotein	This gene encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) gene family. This protein may play a role in pre-mRNA splicing and in embryonic development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
RALY-AS1	chr20	33983052	33994357	-	ENSG00000228265.5	lincRNA	-	20q11.22	RALY antisense RNA 1	-
RALYL	chr8	84182787	84921844	+	ENSG00000184672.11	protein_coding	HNRPCL3	8q21.2	RALY RNA binding protein like	Biased expression in brain (RPKM 3.1), adrenal (RPKM 2.1) and 3 other tissues
RAMAC	chr15	 82986210	82991057	+	ENSG00000169612	protein-coding	C15orf18|FAM103A1|HsT19360|RAM|RAMMET	15q25.2	RNA guanine-7 methyltransferase activating subunit	Ubiquitous expression in placenta (RPKM 19.2), colon (RPKM 16.4) and 25 other tissues
RAMP1	chr2	237858893	237912114	+	ENSG00000132329.10	protein_coding	-	2q37.3	receptor activity modifying protein 1	Biased expression in endometrium (RPKM 26.3), prostate (RPKM 10.7) and 13 other tissues
RAMP2	chr17	42758447	42763041	+	ENSG00000131477.10	protein_coding	-	17q21.2	receptor activity modifying protein 2	Broad expression in lung (RPKM 58.9), fat (RPKM 57.7) and 22 other tissues
RAMP2-AS1	chr17	42753914	42761257	-	ENSG00000197291.8	lincRNA	-	17q21.2	RAMP2 antisense RNA 1	-
RAMP3	chr7	45157791	45186302	+	ENSG00000122679.8	protein_coding	-	7p13	receptor activity modifying protein 3	Broad expression in lung (RPKM 28.4), lymph node (RPKM 13.1) and 20 other tissues
RANBP1	chr22	20115938	20127357	+	ENSG00000099901.16	protein_coding	HTF9A	22q11.21	RAN binding protein 1	This gene encodes a protein that forms a complex with Ras-related nuclear protein (Ran) and metabolizes guanoside triphosphate (GTP). This complex participates in the regulation of the cell cycle by controlling transport of proteins and nucleic acids into the nucleus. There are multiple pseudogenes for this gene on chromosomes 9, 12, 17, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
RANBP10	chr16	67723066	67806652	-	ENSG00000141084.10	protein_coding	-	16q22.1	RAN binding protein 10	Ubiquitous expression in bone marrow (RPKM 13.1), endometrium (RPKM 6.2) and 25 other tissues
RANBP17	chr5	170861870	171300015	+	ENSG00000204764.13	protein_coding	-	5q35.1	RAN binding protein 17	Broad expression in testis (RPKM 1.6), thyroid (RPKM 0.5) and 15 other tissues
RANBP2	chr2	108719481	108785811	+	ENSG00000153201.15	protein_coding	ADANE|ANE1|IIAE3|NUP358|TRP1|TRP2	2q13	RAN binding protein 2	RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene encodes a very large RAN-binding protein that immunolocalizes to the nuclear pore complex. The protein is a giant scaffold and mosaic cyclophilin-related nucleoporin implicated in the Ran-GTPase cycle. The encoded protein directly interacts with the E2 enzyme UBC9 and strongly enhances SUMO1 transfer from UBC9 to the SUMO1 target SP100. These findings place sumoylation at the cytoplasmic filaments of the nuclear pore complex and suggest that, for some substrates, modification and nuclear import are linked events. This gene is partially duplicated in a gene cluster that lies in a hot spot for recombination on chromosome 2q. [provided by RefSeq, Jul 2008]
RANBP3	chr19	5916139	5978142	-	ENSG00000031823.14	protein_coding	-	19p13.3	RAN binding protein 3	Ubiquitous expression in testis (RPKM 18.0), lung (RPKM 13.0) and 25 other tissues
RANBP6	chr9	6011043	6015625	-	ENSG00000137040.9	protein_coding	-	9p24.1	RAN binding protein 6	-
RANBP9	chr6	13621498	13711564	-	ENSG00000010017.12	protein_coding	BPM-L|BPM90|RANBPM|RanBP7	6p23	RAN binding protein 9	This gene encodes a protein that binds RAN, a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The protein encoded by this gene has also been shown to interact with several other proteins, including met proto-oncogene, homeodomain interacting protein kinase 2, androgen receptor, and cyclin-dependent kinase 11. [provided by RefSeq, Jul 2008]
RANGAP1	chr22	41245611	41286251	-	ENSG00000100401.19	protein_coding	Fug1|RANGAP|SD	22q13.2	Ran GTPase activating protein 1	This gene encodes a protein that associates with the nuclear pore complex and participates in the regulation of nuclear transport. The encoded protein interacts with Ras-related nuclear protein 1 (RAN) and regulates guanosine triphosphate (GTP)-binding and exchange. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
RANGRF	chr17	8288497	8290092	+	ENSG00000108961.13	protein_coding	HSPC165|HSPC236|MOG1|RANGNRF	17p13.1	RAN guanine nucleotide release factor	This gene encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to regulate the expression and function of the Nav1.5 cardiac sodium channel in human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
RANP1	chr6	30485940	30486590	+	ENSG00000236603.2	processed_pseudogene	Ras-like|TC4	6p22.1	RAN pseudogene 1	-
RANP8	chr13	20747035	20748057	-	ENSG00000233524.1	processed_pseudogene	-	13q12.11	RAN pseudogene 8	-
RAP1A	chr1	111542218	111716691	+	ENSG00000116473.14	protein_coding	C21KG|G-22K|KREV-1|KREV1|RAP1|SMGP21	1p13.2	RAP1A, member of RAS oncogene family	This gene encodes a member of the Ras family of small GTPases. The encoded protein undergoes a change in conformational state and activity, depending on whether it is bound to GTP or GDP. This protein is activated by several types of guanine nucleotide exchange factors (GEFs), and inactivated by two groups of GTPase-activating proteins (GAPs). The activation status of the encoded protein is therefore affected by the balance of intracellular levels of GEFs and GAPs. The encoded protein regulates signaling pathways that affect cell proliferation and adhesion, and may play a role in tumor malignancy. Pseudogenes of this gene have been defined on chromosomes 14 and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
RAP1AP	chr14	74482985	74483435	+	ENSG00000258769.1	processed_pseudogene	KREV1P|SMGP21A	14q24.3	RAP1A, member of RAS oncogene family pseudogene	-
RAP1B	chr12	68610839	68671901	+	ENSG00000127314.17	protein_coding	K-REV|RAL1B	12q15	RAP1B, member of RAS oncogene family	This gene encodes a member of the RAS-like small GTP-binding protein superfamily. Members of this family regulate multiple cellular processes including cell adhesion and growth and differentiation. This protein localizes to cellular membranes and has been shown to regulate integrin-mediated cell signaling. This protein also plays a role in regulating outside-in signaling in platelets. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 5, 6 and 9. [provided by RefSeq, Oct 2011]
RAP1GAP	chr1	21596215	21669363	-	ENSG00000076864.19	protein_coding	RAP1GA1|RAP1GAP1|RAP1GAPII|RAPGAP	1p36.12	RAP1 GTPase activating protein	This gene encodes a type of GTPase-activating-protein (GAP) that down-regulates the activity of the ras-related RAP1 protein. RAP1 acts as a molecular switch by cycling between an inactive GDP-bound form and an active GTP-bound form. The product of this gene, RAP1GAP, promotes the hydrolysis of bound GTP and hence returns RAP1 to the inactive state whereas other proteins, guanine nucleotide exchange factors (GEFs), act as RAP1 activators by facilitating the conversion of RAP1 from the GDP- to the GTP-bound form. In general, ras subfamily proteins, such as RAP1, play key roles in receptor-linked signaling pathways that control cell growth and differentiation. RAP1 plays a role in diverse processes such as cell proliferation, adhesion, differentiation, and embryogenesis. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Aug 2011]
RAP1GAP2	chr17	2755705	3037739	+	ENSG00000132359.14	protein_coding	GARNL4|RAP1GA3	17p13.3	RAP1 GTPase activating protein 2	This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
RAP2A	chr13	97434222	97469128	+	ENSG00000125249.6	protein_coding	K-REV|KREV|RAP2|RbBP-30	13q32.1	RAP2A, member of RAS oncogene family	Ubiquitous expression in brain (RPKM 41.0), placenta (RPKM 14.5) and 23 other tissues
RAP2CP1	chr14	103279223	103279955	+	ENSG00000270938.1	transcribed_processed_pseudogene	-	14q32.32	RAP2C pseudogene 1	-
RAPGEF1	chr9	131576770	131740074	-	ENSG00000107263.18	protein_coding	C3G|GRF2	9q34.13	Rap guanine nucleotide exchange factor 1	This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
RAPGEF2	chr4	159104178	159360169	+	ENSG00000109756.8	protein_coding	CNrasGEF|NRAPGEP|PDZ-GEF1|PDZGEF1|RA-GEF|RA-GEF-1|RAGEF|Rap-GEP|nRap GEP	4q32.1	Rap guanine nucleotide exchange factor 2	Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF2, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]
RAPGEF3	chr12	47734367	47771040	-	ENSG00000079337.15	protein_coding	CAMP-GEFI|EPAC|EPAC1|HSU79275|bcm910	12q13.11	Rap guanine nucleotide exchange factor 3	Broad expression in fat (RPKM 15.0), thyroid (RPKM 13.2) and 22 other tissues
RAPGEF4	chr2	172735274	173052893	+	ENSG00000091428.17	protein_coding	CAMP-GEFII|CGEF2|EPAC|EPAC 2|EPAC2|Nbla00496	2q31.1	Rap guanine nucleotide exchange factor 4	Biased expression in brain (RPKM 37.0), adrenal (RPKM 17.3) and 12 other tissues
RAPGEF6	chr5	131423921	131635236	-	ENSG00000158987.20	protein_coding	KIA001LB|PDZ-GEF2|PDZGEF2|RA-GEF-2|RAGEF2	5q31.1	Rap guanine nucleotide exchange factor 6	Ubiquitous expression in lymph node (RPKM 9.8), appendix (RPKM 6.5) and 24 other tissues
RAPGEFL1	chr17	40177010	40195656	+	ENSG00000108352.11	protein_coding	Link-GEFII	17q21.1	Rap guanine nucleotide exchange factor like 1	Biased expression in skin (RPKM 52.1), esophagus (RPKM 22.9) and 7 other tissues
RAPH1	chr2	203394345	203535410	-	ENSG00000173166.17	protein_coding	ALS2CR18|ALS2CR9|LPD|PREL-2|PREL2|RMO1|RalGDS/AF-6	2q33.2	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	This gene encodes a protein that belongs to the Mig10/Rap1-interacting adaptor molecule/Lamellipodin family of adapter proteins, which function in cell migration. Members of this family contain pleckstrin-homology domains, Ras-association domains, and proline-rich C-termini. The protein encoded by this gene regulates actin dynamics through interaction with Ena/Vasodilator proteins as well as direct binding to filamentous actin to regulate actin network assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
RAPSN	chr11	47437757	47449178	-	ENSG00000165917.9	protein_coding	CMS11|CMS4C|FADS|FADS2|RAPSYN|RNF205	11p11.2	receptor associated protein of the synapse	This gene encodes a member of a family of proteins that are receptor associated proteins of the synapse. The encoded protein contains a conserved cAMP-dependent protein kinase phosphorylation site, and plays a critical role in clustering and anchoring nicotinic acetylcholine receptors at synaptic sites by linking the receptors to the underlying postsynaptic cytoskeleton, possibly by direct association with actin or spectrin. Mutations in this gene may play a role in postsynaptic congenital myasthenic syndromes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2011]
RARA	chr17	40309192	40357643	+	ENSG00000131759.17	protein_coding	NR1B1|RAR	17q21.2	retinoic acid receptor alpha	This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010]
RARA-AS1	chr17	40340867	40343136	-	ENSG00000265666.1	antisense	-	17q21.2	RARA antisense RNA 1	-
RARB	chr3	25174332	25597932	+	ENSG00000077092.18	protein_coding	HAP|MCOPS12|NR1B2|RARbeta1|RRB2	3p24.2	retinoic acid receptor beta	This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. Alternate promoter usage and differential splicing result in multiple transcript variants. [provided by RefSeq, Mar 2014]
RARG	chr12	53210567	53232980	-	ENSG00000172819.16	protein_coding	NR1B3|RARC	12q13.13	retinoic acid receptor gamma	This gene encodes a retinoic acid receptor that belongs to the nuclear hormone receptor family. Retinoic acid receptors (RARs) act as ligand-dependent transcriptional regulators. When bound to ligands, RARs activate transcription by binding as heterodimers to the retinoic acid response elements (RARE) found in the promoter regions of the target genes. In their unbound form, RARs repress transcription of their target genes. RARs are involved in various biological processes, including limb bud development, skeletal growth, and matrix homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
RARRES1	chr3	158696892	158732696	-	ENSG00000118849.9	protein_coding	LXNL|PERG-1|TIG1	3q25.32	retinoic acid receptor responder 1	This gene was identified as a retinoid acid (RA) receptor-responsive gene. It encodes a type 1 membrane protein. The expression of this gene is upregulated by tazarotene as well as by retinoic acid receptors. The expression of this gene is found to be downregulated in prostate cancer, which is caused by the methylation of its promoter and CpG island. Alternatively spliced transcript variant encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
RARRES2	chr7	150338317	150341674	-	ENSG00000106538.9	protein_coding	HP10433|TIG2	7q36.1	retinoic acid receptor responder 2	This gene encodes a secreted chemotactic protein that initiates chemotaxis via the ChemR23 G protein-coupled seven-transmembrane domain ligand. Expression of this gene is upregulated by the synthetic retinoid tazarotene and occurs in a wide variety of tissues. The active protein has several roles, including that as an adipokine and as an antimicrobial protein with activity against bacteria and fungi. [provided by RefSeq, Nov 2014]
RARS1	chr5	 168486471	168519301	+	ENSG00000113643	protein-coding	ArgRS|DALRD1|HLD9|RARS	5q34	arginyl-tRNA synthetase 1	Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Jul 2008]
RARS2	chr6	87514378	87590003	-	ENSG00000146282.17	protein_coding	ArgRS|DALRD2|PCH6|PRO1992|RARSL	6q15	arginyl-tRNA synthetase 2, mitochondrial	This nuclear gene encodes a protein that localizes to the mitochondria, where it catalyzes the transfer of L-arginine to its cognate tRNA, an important step in translation of mitochondrially-encoded proteins. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
RASA2	chr3	141487047	141615342	+	ENSG00000155903.11	protein_coding	GAP1M	3q23	RAS p21 protein activator 2	The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
RASA3	chr13	113977783	114132611	-	ENSG00000185989.10	protein_coding	GAP1IP4BP|GAPIII	13q34	RAS p21 protein activator 3	This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
RASA3-IT1	chr13	114107569	114108820	-	ENSG00000232487.1	sense_intronic	-	13q34	RASA3 intronic transcript 1	-
RASA4	chr7	102573807	102616757	-	ENSG00000105808.17	protein_coding	CAPRI|GAPL	7q22.1	RAS p21 protein activator 4	This gene encodes a member of the GAP1 family of GTPase-activating proteins that suppresses the Ras/mitogen-activated protein kinase pathway in response to Ca(2+). Stimuli that increase intracellular Ca(2+) levels result in the translocation of this protein to the plasma membrane, where it activates Ras GTPase activity. Consequently, Ras is converted from the active GTP-bound state to the inactive GDP-bound state and no longer activates downstream pathways that regulate gene expression, cell growth, and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
RASA4B	chr7	102482445	102517781	-	ENSG00000170667.14	protein_coding	-	7q22.1	RAS p21 protein activator 4B	-
RASA4CP	chr7	44026951	44041892	-	ENSG00000228903.7	transcribed_unprocessed_pseudogene	RASA4P	7p13	RAS p21 protein activator 4C, pseudogene	-
RASA4DP	chr7	102681836	102690469	-	ENSG00000233297.4	unprocessed_pseudogene	-	7q22.1	RAS p21 protein activator 4D, pseudogene	-
RASAL1	chr12	113098819	113136239	-	ENSG00000111344.11	protein_coding	RASAL	12q24.13	RAS protein activator like 1	The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member contains domains which are characteristic of the GAP1 subfamily of RasGAP proteins but, in contrast to the other GAP1 family members, this protein is strongly and selectively expressed in endocrine tissues. Alternatively spliced transcript variants that encode different isoforms have been described [provided by RefSeq, Jul 2010]
RASAL2	chr1	178094141	178484147	+	ENSG00000075391.16	protein_coding	NGAP	1q25.2	RAS protein activator like 2	This gene encodes a protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function as activators of Ras superfamily of small GTPases. The protein encoded by this gene is able to complement the defective RasGAP function in a yeast system. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
RASAL2-AS1	chr1	178091508	178093984	-	ENSG00000224687.1	lincRNA	-	1q25.2	RASAL2 antisense RNA 1	-
RASD1	chr17	17494437	17496395	-	ENSG00000108551.4	protein_coding	AGS1|DEXRAS1|MGC:26290	17p11.2	ras related dexamethasone induced 1	This gene encodes a member of the Ras superfamily of small GTPases and is induced by dexamethasone. The encoded protein is an activator of G-protein signaling and acts as a direct nucleotide exchange factor for Gi-Go proteins. This protein interacts with the neuronal nitric oxide adaptor protein CAPON, and a nuclear adaptor protein FE65, which interacts with the Alzheimers disease amyloid precursor protein. This gene may play a role in dexamethasone-induced alterations in cell morphology, growth and cell-extracellular matrix interactions. Epigenetic inactivation of this gene is closely correlated with resistance to dexamethasone in multiple myeloma cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2011]
RASD2	chr22	35540868	35554001	+	ENSG00000100302.6	protein_coding	Rhes|TEM2	22q12.3	RASD family member 2	This gene belongs to the Ras superfamily of small GTPases and is enriched in the striatum. The encoded protein functions as an E3 ligase for attachment of small ubiquitin-like modifier (SUMO). This protein also binds to mutant huntingtin (mHtt), the protein mutated in Huntington disease (HD). Sumoylation of mHTT by this protein may cause degeneration of the striatum. The protein functions as an activator of mechanistic target of rapamycin 1 (mTOR1), which in turn plays a role in myelination, axon growth and regeneration. Reduced levels of mRNA expressed by this gene were found in HD patients. [provided by RefSeq, Jan 2016]
RASGEF1A	chr10	43194535	43266919	-	ENSG00000198915.11	protein_coding	CG4853	10q11.21	RasGEF domain family member 1A	Enables guanyl-nucleotide exchange factor activity. Involved in cell migration and positive regulation of Ras protein signal transduction. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
RASGEF1B	chr4	81426393	82044244	-	ENSG00000138670.17	protein_coding	GPIG4	4q21.21	RasGEF domain family member 1B	Ubiquitous expression in skin (RPKM 10.2), bone marrow (RPKM 8.3) and 24 other tissues
RASGEF1C	chr5	180100791	180209153	-	ENSG00000146090.15	protein_coding	-	5q35.3	RasGEF domain family member 1C	-
RASGRF1	chr15	78959947	79090773	-	ENSG00000058335.15	protein_coding	CDC25|CDC25L|GNRP|GRF1|GRF55|H-GRF55|PP13187|ras-GRF1	15q25.1	Ras protein specific guanine nucleotide releasing factor 1	The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) similar to the Saccharomyces cerevisiae CDC25 gene product. Functional analysis has demonstrated that this protein stimulates the dissociation of GDP from RAS protein. The studies of the similar gene in mouse suggested that the Ras-GEF activity of this protein in brain can be activated by Ca2+ influx, muscarinic receptors, and G protein beta-gamma subunit. Mouse studies also indicated that the Ras-GEF signaling pathway mediated by this protein may be important for long-term memory. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Mar 2009]
RASGRF2	chr5	80960672	81230156	+	ENSG00000113319.12	protein_coding	GRF2|RAS-GRF2	5q14.1	Ras protein specific guanine nucleotide releasing factor 2	RAS GTPases cycle between an inactive GDP-bound state and an active GTP-bound state. This gene encodes a calcium-regulated nucleotide exchange factor activating both RAS and RAS-related protein, RAC1, through the exchange of bound GDP for GTP, thereby, coordinating the signaling of distinct mitogen-activated protein kinase pathways. [provided by RefSeq, Oct 2011]
RASGRP1	chr15	38488103	38565575	-	ENSG00000172575.11	protein_coding	CALDAG-GEFI|CALDAG-GEFII|IMD64|RASGRP	15q14	RAS guanyl releasing protein 1	This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008]
RASGRP2	chr11	64726911	64745456	-	ENSG00000068831.18	protein_coding	CALDAG-GEFI|CDC25L	11q13.1	RAS guanyl releasing protein 2	The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
RASGRP3	chr2	33436324	33564750	+	ENSG00000152689.17	protein_coding	GRP3	2p22.3	RAS guanyl releasing protein 3	The protein encoded by this gene is a guanine nucleotide exchange factor that activates the oncogenes HRAS and RAP1A. Defects in this gene have been associated with systemic lupus erythematosus and several cancers. [provided by RefSeq, Mar 2017]
RASGRP4	chr19	38409051	38426305	-	ENSG00000171777.15	protein_coding	-	19q13.2	RAS guanyl releasing protein 4	Biased expression in bone marrow (RPKM 11.0), appendix (RPKM 5.5) and 13 other tissues
RASIP1	chr19	48720587	48740721	-	ENSG00000105538.9	protein_coding	RAIN	19q13.33	Ras interacting protein 1	Broad expression in fat (RPKM 11.9), spleen (RPKM 8.9) and 23 other tissues
RASL10A	chr22	29312933	29319679	-	ENSG00000100276.9	protein_coding	RRP22	22q12.2	RAS like family 10 member A	Biased expression in brain (RPKM 6.1) and testis (RPKM 0.5)
RASL10B	chr17	35731649	35743521	+	ENSG00000270885.1	protein_coding	RRP17|VTS58635	17q12	RAS like family 10 member B	Biased expression in fat (RPKM 7.3), heart (RPKM 2.8) and 8 other tissues
RASL11A	chr13	27270327	27273690	+	ENSG00000122035.6	protein_coding	-	13q12.2	RAS like family 11 member A	Ubiquitous expression in fat (RPKM 15.1), colon (RPKM 11.1) and 24 other tissues
RASL12	chr15	65053337	65076690	-	ENSG00000103710.10	protein_coding	RIS	15q22.31	RAS like family 12	Broad expression in prostate (RPKM 19.4), endometrium (RPKM 17.1) and 21 other tissues
RASSF1	chr3	50329782	50340980	-	ENSG00000068028.17	protein_coding	123F2|NORE2A|RASSF1A|RDA32|REH3P21	3p21.31	Ras association domain family member 1	This gene encodes a protein similar to the RAS effector proteins. Loss or altered expression of this gene has been associated with the pathogenesis of a variety of cancers, which suggests the tumor suppressor function of this gene. The inactivation of this gene was found to be correlated with the hypermethylation of its CpG-island promoter region. The encoded protein was found to interact with DNA repair protein XPA. The protein was also shown to inhibit the accumulation of cyclin D1, and thus induce cell cycle arrest. Several alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, May 2011]
RASSF1-AS1	chr3	50337511	50338300	+	ENSG00000281358.1	antisense	ANRASSF1	3p21.31	RASSF1 antisense RNA 1	-
RASSF10	chr11	13009577	13012106	+	ENSG00000189431.7	protein_coding	-	11p15.3	Ras association domain family member 10	-
RASSF2	chr20	4780023	4823645	-	ENSG00000101265.15	protein_coding	CENP-34|RASFADIN	20p13	Ras association domain family member 2	This gene encodes a protein that contains a Ras association domain. Similar to its cattle and sheep counterparts, this gene is located near the prion gene. Two alternatively spliced transcripts encoding the same isoform have been reported. [provided by RefSeq, Jul 2008]
RASSF3	chr12	64507001	64697567	+	ENSG00000153179.12	protein_coding	RASSF5	12q14.2	Ras association domain family member 3	The RAS oncogene (MIM 190020) is mutated in nearly one-third of all human cancers. Members of the RAS superfamily are plasma membrane GTP-binding proteins that modulate intracellular signal transduction pathways. A subfamily of RAS effectors, including RASSF3, share a RAS association (RA) domain.[supplied by OMIM, Jul 2003]
RASSF4	chr10	44959407	44995891	+	ENSG00000107551.20	protein_coding	AD037	10q11.21	Ras association domain family member 4	The function of this gene has not yet been determined but may involve a role in tumor suppression. Alternative splicing of this gene results in several transcript variants; however, most of the variants have not been fully described. [provided by RefSeq, Jul 2008]
RASSF5	chr1	206507530	206589448	+	ENSG00000266094.7	protein_coding	Maxp1|NORE1|NORE1A|NORE1B|RAPL|RASSF3	1q32.1	Ras association domain family member 5	This gene is a member of the Ras association domain family. It functions as a tumor suppressor, and is inactivated in a variety of cancers. The encoded protein localizes to centrosomes and microtubules, and associates with the GTP-activated forms of Ras, Rap1, and several other Ras-like small GTPases. The protein regulates lymphocyte adhesion and suppresses cell growth in response to activated Rap1 or Ras. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
RASSF6	chr4	73571550	73620631	-	ENSG00000169435.13	protein_coding	-	4q13.3	Ras association domain family member 6	Broad expression in stomach (RPKM 5.6), colon (RPKM 3.3) and 15 other tissues
RASSF7	chr11	560404	564021	+	ENSG00000099849.14	protein_coding	C11orf13|CFAP88|FAP88|HRAS1|HRC1	11p15.5	Ras association domain family member 7	Broad expression in stomach (RPKM 14.8), colon (RPKM 12.6) and 23 other tissues
RASSF8	chr12	25959029	26079892	+	ENSG00000123094.15	protein_coding	C12orf2|HOJ1	12p12.1	Ras association domain family member 8	This gene encodes a member of the Ras-assocation domain family (RASSF) of tumor suppressor proteins. This gene is essential for maintaining adherens junction function in epithelial cells and has a role in epithelial cell migration. It is a lung tumor suppressor gene candidate. A chromosomal translocation t(12;22)(p11.2;q13.3) leading to the fusion of this gene and the FBLN1 gene is found in a complex type of synpolydactyly. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
RASSF8-AS1	chr12	25939329	25959765	-	ENSG00000246695.7	antisense	-	12p12.1	RASSF8 antisense RNA 1	-
RASSF9	chr12	85800697	85836570	-	ENSG00000198774.4	protein_coding	P-CIP1|PAMCI|PCIP1	12q21.31	Ras association domain family member 9	The protein encoded by this gene localizes to perinuclear endosomes. This protein associates with peptidylglycine alpha-amidating monooxygenase, and may be involved with the trafficking of this enzyme through secretory or endosomal pathways. [provided by RefSeq, Jul 2008]
RAVER1	chr19	10316212	10333640	-	ENSG00000161847.13	protein_coding	-	19p13.2	ribonucleoprotein, PTB binding 1	-
RAVER2	chr1	64745095	64833232	+	ENSG00000162437.14	protein_coding	-	1p31.3	ribonucleoprotein, PTB binding 2	-
RAX2	chr19	3769089	3772221	-	ENSG00000173976.15	protein_coding	ARMD6|CORD11|QRX|RAXL1	19p13.3	retina and anterior neural fold homeobox 2	This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruchs membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
RB1	chr13	48303751	48481986	+	ENSG00000139687.13	protein_coding	OSRC|PPP1R130|RB|p105-Rb|p110-RB1|pRb|pp110	13q14.2	RB transcriptional corepressor 1	The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]
RB1-DT	chr13	 48296513	48303702	-	ENSG00000231473	ncRNA	LINC00441|ncRNA-RB1	13q14.2	RB1 divergent transcript	Biased expression in testis (RPKM 1.9), thyroid (RPKM 0.3) and 5 other tissues
RB1CC1	chr8	52622456	52745843	-	ENSG00000023287.12	protein_coding	ATG17|CC1|FIP200|PPP1R131	8q11.23	RB1 inducible coiled-coil 1	The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhances retinoblastoma 1 gene expression in cancer cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]
RBAK	chr7	5045821	5069488	+	ENSG00000146587.17	protein_coding	ZNF769	7p22.1	RB associated KRAB zinc finger	This gene encodes a nuclear protein which interacts with the tumor suppressor retinoblastoma 1. The two interacting proteins are thought to act as a transcriptional repressor for promoters which are activated by the E2F1 transcription factor. This protein contains a Kruppel-associated box (KRAB), which is a transcriptional repressor motif. Read-through transcripts that include exons from the downstream gene LOC389458 are expressed from this locus. [provided by RefSeq, Mar 2011]
RBBP4	chr1	32651142	32686211	+	ENSG00000162521.18	protein_coding	NURF55|RBAP48|lin-53	1p35.1	RB binding protein 4, chromatin remodeling factor	This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. It is present in protein complexes involved in histone acetylation and chromatin assembly. It is part of the Mi-2 complex which has been implicated in chromatin remodeling and transcriptional repression associated with histone deacetylation. This encoded protein is also part of co-repressor complexes, which is an integral component of transcriptional silencing. It is found among several cellular proteins that bind directly to retinoblastoma protein to regulate cell proliferation. This protein also seems to be involved in transcriptional repression of E2F-responsive genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
RBBP4P4	chr6	58119741	58121029	-	ENSG00000214561.3	processed_pseudogene	-	6p11.2	RBBP4 pseudogene 4	-
RBBP5	chr1	205086142	205122015	-	ENSG00000117222.13	protein_coding	RBQ3|SWD1	1q32.1	RB binding protein 5, histone lysine methyltransferase complex subunit	This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regulates cell proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2010]
RBBP6	chr16	24537693	24572863	+	ENSG00000122257.18	protein_coding	MY038|P2P-R|PACT|RBQ-1|SNAMA	16p12.1	RB binding protein 6, ubiquitin ligase	The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity of pRB. This gene encodes a protein which binds to underphosphorylated but not phosphorylated pRB. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
RBBP8	chr18	22798261	23026488	+	ENSG00000101773.18	protein_coding	COM1|CTIP|JWDS|RIM|SAE2|SCKL2	18q11.2	RB binding protein 8, endonuclease	The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]
RBBP8NL	chr20	62410237	62427533	-	ENSG00000130701.3	protein_coding	C20orf151	20q13.33	RBBP8 N-terminal like	Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
RBBP9	chr20	18486540	18497243	-	ENSG00000089050.15	protein_coding	BOG|RBBP10	20p11.23	RB binding protein 9, serine hydrolase	The protein encoded by this gene is a retinoblastoma binding protein that may play a role in the regulation of cell proliferation and differentiation. Two alternatively spliced transcript variants of this gene with identical predicted protein products have been reported, one of which is a nonsense-mediated decay candidate. [provided by RefSeq, Jul 2008]
RBFA	chr18	80034358	80046397	+	ENSG00000101546.12	protein_coding	C18orf22|HsT169	18q23	ribosome binding factor A	Ubiquitous expression in fat (RPKM 3.2), skin (RPKM 2.6) and 25 other tissues
RBFOX1	chr16	6019094	7713338	+	ENSG00000078328.19	protein_coding	2BP1|A2BP1|FOX-1|FOX1|HRNBP1	16p13.3	RNA binding fox-1 homolog 1	The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
RBFOX3	chr17	79089345	79516148	-	ENSG00000167281.18	protein_coding	FOX-3|FOX3|HRNBP3|NEUN	17q25.3	RNA binding fox-1 homolog 3	This gene encodes a member of the RNA-binding FOX protein family which is involved in the regulation of alternative splicing of pre-mRNA. The protein has an N-terminal proline-rich region, an RNA recognition motif (RRM) domain, and a C-terminal alanine-rich region. This gene produces the neuronal nuclei (NeuN) antigen that has been widely used as a marker for post-mitotic neurons. This gene has its highest expression in the central nervous system and plays a prominent role in neural tissue development and regulation of adult brain function. Mutations in this gene have been associated with numerous neurological disorders. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2017]
RBIS	chr8	 85214048	85220374	-	ENSG00000176731	protein-coding	C8orf59	8q21.2	ribosomal biogenesis factor	Ubiquitous expression in colon (RPKM 16.9), fat (RPKM 15.7) and 25 other tissues
RBKS	chr2	27781364	27891098	-	ENSG00000171174.13	protein_coding	RBSK|RK	2p23.2	ribokinase	This gene encodes a member of the carbohydrate kinase PfkB family. The encoded protein phosphorylates ribose to form ribose-5-phosphate in the presence of ATP and magnesium as a first step in ribose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
RBL1	chr20	36996349	37095995	-	ENSG00000080839.11	protein_coding	CP107|PRB1|p107	20q11.23	RB transcriptional corepressor like 1	The protein encoded by this gene is similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
RBL2	chr16	53433977	53491649	+	ENSG00000103479.15	protein_coding	P130|Rb2	16q12.2	RB transcriptional corepressor like 2	Ubiquitous expression in lymph node (RPKM 41.9), testis (RPKM 38.9) and 25 other tissues
RBM12	chr20	35648925	35664956	-	ENSG00000244462.7	protein_coding	HRIHFB2091|SCZD19|SWAN	20q11.22	RNA binding motif protein 12	This gene encodes a protein that contains several RNA-binding motifs, potential transmembrane domains, and proline-rich regions. This gene and the gene for copine I overlap at map location 20q11.21. Alternative splicing in the 5 UTR results in four transcript variants. All variants encode the same protein. [provided by RefSeq, Nov 2010]
RBM12B	chr8	93729356	93741017	-	ENSG00000183808.11	protein_coding	MGC:33837	8q22.1	RNA binding motif protein 12B	Ubiquitous expression in testis (RPKM 5.9), ovary (RPKM 4.2) and 25 other tissues
RBM12B-AS1	chr8	93740121	93740773	+	ENSG00000279331.1	TEC	C8orf39|PRO1905	8q22.1	RBM12B antisense RNA 1	-
RBM14	chr11	66616582	66627347	+	ENSG00000239306.4	protein_coding	COAA|PSP2|SIP|SYTIP1|TMEM137	11q13.2	RNA binding motif protein 14	This gene encodes a ribonucleoprotein that functions as a general nuclear coactivator, and an RNA splicing modulator. This protein contains two RNA recognition motifs (RRM) at the N-terminus, and multiple hexapeptide repeat domain at the C-terminus that interacts with thyroid hormone receptor-binding protein (TRBP), and is required for transcription activation. Alternatively spliced transcript variants encoding different isoforms (with opposing effects on transcription) have been described for this gene. [provided by RefSeq, Oct 2011]
RBM15	chr1	110338506	110346681	+	ENSG00000162775.14	protein_coding	OTT|OTT1|SPEN	1p13.3	RNA binding motif protein 15	Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]
RBM15B	chr3	51391268	51397908	+	ENSG00000259956.1	protein_coding	HUMAGCGB|HsOTT3|OTT3	3p21.2	RNA binding motif protein 15B	Members of the SPEN (Split-end) family of proteins, including RBM15B, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]
RBM17	chr10	6088987	6117457	+	ENSG00000134453.15	protein_coding	SPF45	10p15.1	RNA binding motif protein 17	This gene encodes an RNA binding protein. The encoded protein is part of the spliceosome complex and functions in the second catalytic step of mRNA splicing. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 9 and 15. [provided by RefSeq, Mar 2009]
RBM19	chr12	113816738	113966371	-	ENSG00000122965.10	protein_coding	Mrd1	12q24.13-q24.21	RNA binding motif protein 19	This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Apr 2009]
RBM20	chr10	110644397	110839469	+	ENSG00000203867.7	protein_coding	-	10q25.2	RNA binding motif protein 20	Biased expression in heart (RPKM 10.3), salivary gland (RPKM 1.2) and 5 other tissues
RBM22	chr5	150690794	150701107	-	ENSG00000086589.11	protein_coding	Cwc2|ZC3H16|fSAP47	5q33.1	RNA binding motif protein 22	This gene encodes an RNA binding protein. The encoded protein may play a role in cell division and may be involved in pre-mRNA splicing. Related pseudogenes exist on chromosomes 6, 7, 9, 13, 16, 18, and X. [provided by RefSeq, Mar 2009]
RBM23	chr14	22893206	22919184	-	ENSG00000100461.17	protein_coding	CAPERbeta|PP239|RNPC4	14q11.2	RNA binding motif protein 23	This gene encodes a member of the U2AF-like family of RNA binding proteins. This protein interacts with some steroid nuclear receptors, localizes to the promoter of a steroid- responsive gene, and increases transcription of steroid-responsive transcriptional reporters in a hormone-dependent manner. It is also implicated in the steroid receptor-dependent regulation of alternative splicing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
RBM25	chr14	73058436	73123898	+	ENSG00000119707.13	protein_coding	NET52|RED120|RNPC7|S164|Snu71|fSAP94	14q24.2	RNA binding motif protein 25	Ubiquitous expression in bone marrow (RPKM 31.7), lymph node (RPKM 25.2) and 25 other tissues
RBM26	chr13	79311824	79406477	-	ENSG00000139746.15	protein_coding	ARRS2|C13orf10|PPP1R132|PRO1777|SE70-2|ZC3H17	13q31.1	RNA binding motif protein 26	Ubiquitous expression in lymph node (RPKM 9.9), testis (RPKM 9.9) and 25 other tissues
RBM26-AS1	chr13	79406309	79424328	+	ENSG00000227354.6	antisense	-	13q31.1	RBM26 antisense RNA 1	-
RBM28	chr7	128297685	128343908	-	ENSG00000106344.8	protein_coding	ANES	7q32.1	RNA binding motif protein 28	The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
RBM33	chr7	155644451	155781485	+	ENSG00000184863.10	protein_coding	PRR8	7q36.3	RNA binding motif protein 33	Ubiquitous expression in bone marrow (RPKM 11.9), skin (RPKM 7.9) and 25 other tissues
RBM34	chr1	235131183	235161457	-	ENSG00000188739.14	protein_coding	-	1q42.3	RNA binding motif protein 34	Ubiquitous expression in testis (RPKM 15.6), lymph node (RPKM 10.7) and 25 other tissues
RBM38	chr20	57391407	57409333	+	ENSG00000132819.16	protein_coding	HSRNASEB|RNPC1|SEB4B|SEB4D|dJ800J21.2	20q13.31	RNA binding motif protein 38	Broad expression in bone marrow (RPKM 68.1), lymph node (RPKM 23.9) and 18 other tissues
RBM39	chr20	35701347	35742312	-	ENSG00000131051.22	protein_coding	CAPER|CAPERalpha|FSAP59|HCC1|RNPC2	20q11.22	RNA binding motif protein 39	This gene encodes a member of the U2AF65 family of proteins. The encoded protein is found in the nucleus, where it co-localizes with core spliceosomal proteins. It has been shown to play a role in both steroid hormone receptor-mediated transcription and alternative splicing, and it is also a transcriptional coregulator of the viral oncoprotein v-Rel. Multiple transcript variants have been observed for this gene. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Aug 2011]
RBM4	chr11	66638617	66666682	+	ENSG00000173933.19	protein_coding	LARK|RBM4A|ZCCHC21|ZCRB3A	11q13.2	RNA binding motif protein 4	Ubiquitous expression in lymph node (RPKM 17.5), ovary (RPKM 17.2) and 25 other tissues
RBM42	chr19	35629030	35637686	+	ENSG00000126254.11	protein_coding	-	19q13.12	RNA binding motif protein 42	Ubiquitous expression in fat (RPKM 19.0), spleen (RPKM 16.6) and 25 other tissues
RBM43	chr2	151247940	151261879	-	ENSG00000184898.6	protein_coding	C2orf38	2q23.3	RNA binding motif protein 43	Ubiquitous expression in thyroid (RPKM 7.0), ovary (RPKM 6.7) and 25 other tissues
RBM44	chr2	237798389	237842808	+	ENSG00000177483.11	protein_coding	-	2q37.3	RNA binding motif protein 44	-
RBM45	chr2	178112424	178139011	+	ENSG00000155636.14	protein_coding	DRB1|RB-1	2q31.2	RNA binding motif protein 45	This gene encodes a member of the RNA recognition motif (RRM)-type RNA-binding family of proteins. This protein exhibits preferential binding to poly(C) RNA. Initial cloning of this gene found that the rat ortholog was dynamically expressed in the developing rat brain. This protein has been localized to inclusion bodies in the brain and spinal cord of amyotrophic lateral sclerosis and Alzheimers patients. A pseudogene has been identified on chromosome 8. [provided by RefSeq, Feb 2015]
RBM46	chr4	154781213	154828813	+	ENSG00000151962.7	protein_coding	CT68	4q32.1	RNA binding motif protein 46	Restricted expression toward testis (RPKM 13.4)
RBM47	chr4	40423267	40630875	-	ENSG00000163694.14	protein_coding	NET18	4p14	RNA binding motif protein 47	Broad expression in colon (RPKM 20.7), kidney (RPKM 20.0) and 22 other tissues
RBM48	chr7	92528773	92538005	+	ENSG00000127993.15	protein_coding	C7orf64|HSPC304	7q21.2	RNA binding motif protein 48	Ubiquitous expression in bone marrow (RPKM 2.5), brain (RPKM 2.4) and 25 other tissues
RBM4B	chr11	66664998	66677921	-	ENSG00000173914.11	protein_coding	RBM30|RBM4L|ZCCHC15|ZCCHC21B|ZCRB3B	11q13.2	RNA binding motif protein 4B	Ubiquitous expression in ovary (RPKM 14.9), endometrium (RPKM 13.1) and 25 other tissues
RBM5	chr3	50088908	50119021	+	ENSG00000003756.16	protein_coding	G15|H37|LUCA-15|LUCA15|RMB5	3p21.31	RNA binding motif protein 5	This gene is a candidate tumor suppressor gene which encodes a nuclear RNA binding protein that is a component of the spliceosome A complex. The encoded protein plays a role in the induction of cell cycle arrest and apoptosis through pre-mRNA splicing of multiple target genes including the tumor suppressor protein p53. This gene is located within the tumor suppressor region 3p21.3, and may play a role in the inhibition of tumor transformation and progression of several malignancies including lung cancer. [provided by RefSeq, Oct 2011]
RBM5-AS1	chr3	50099603	50100988	-	ENSG00000281691.1	antisense	LUST	3p21.31	RBM5 antisense RNA 1	This gene produces a non-coding RNA in antisense to the RNA binding motif protein 5 (RBM5) gene. This transcript interacts with beta catenin and may regulate expression of WNT target genes. [provided by RefSeq, Sep 2016]
RBM6	chr3	49940007	50100045	+	ENSG00000004534.14	protein_coding	3G2|DEF-3|DEF3|HLC-11|NY-LU-12|g16	3p21.31	RNA binding motif protein 6	Ubiquitous expression in endometrium (RPKM 33.9), lymph node (RPKM 31.2) and 25 other tissues
RBM7	chr11	114400030	114414203	+	ENSG00000076053.10	protein_coding	-	11q23.2	RNA binding motif protein 7	-
RBM8A	chr1	145917714	145927678	-	ENSG00000265241.6	protein_coding	BOV-1A|BOV-1B|BOV-1C|C1DELq21.1|DEL1q21.1|MDS014|RBM8|RBM8B|TAR|Y14|ZNRP|ZRNP1	1q21.1	RNA binding motif protein 8A	This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013]
RBMS1	chr2	160272151	160493794	-	ENSG00000153250.19	protein_coding	C2orf12|HCC-4|MSSP|MSSP-1|MSSP-2|MSSP-3|SCR2|YC1	2q24.2	RNA binding motif single stranded interacting protein 1	This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. Several transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. A pseudogene for this locus is found on chromosome 12. [provided by RefSeq, Feb 2009]
RBMS1P1	chr12	66234079	66235234	-	ENSG00000225422.4	processed_pseudogene	MSSP1|RBMS1P	12q14.3	RNA binding motif single stranded interacting protein 1 pseudogene 1	-
RBMS2	chr12	56521929	56596196	+	ENSG00000076067.12	protein_coding	SCR3	12q13.3	RNA binding motif single stranded interacting protein 2	The protein encoded by this gene is a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. The RBMS proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. This protein was isolated by phenotypic complementation of cdc2 and cdc13 mutants of yeast and is thought to suppress cdc2 and cdc13 mutants through the induction of translation of cdc2. [provided by RefSeq, Jul 2008]
RBMS3	chr3	28574791	30010391	+	ENSG00000144642.21	protein_coding	-	3p24.1	RNA binding motif single stranded interacting protein 3	Broad expression in thyroid (RPKM 7.8), fat (RPKM 6.1) and 23 other tissues
RBMXL1	chr1	88979456	88992960	-	ENSG00000213516.9	protein_coding	RBM1	1p22.2	RBMX like 1	This gene represents a retrogene of RNA binding motif protein, X-linked (RBMX), which is located on chromosome X. While all introns in the coding sequence have been processed out compared to the RBMX locus, the ORF is intact and there is specific evidence for transcription at this location. The preservation of the ORF by purifying selection in all Old World monkeys carrying it suggests that this locus is likely to be functional, possibly during male meiosis when X chromosomal genes are silenced or during haploid stages of spermatogenesis. This gene shares 5 exon structure with the cysteine conjugate-beta lyase 2 locus on chromosome 1, but the coding sequences are non-overlapping. Alternative splicing results in two transcript variants. [provided by RefSeq, Jun 2009]
RBP1	chr3	139517434	139539829	-	ENSG00000114115.9	protein_coding	CRABP-I|CRBP|CRBP1|CRBPI|RBPC	3q23	retinol binding protein 1	This gene encodes the carrier protein involved in the transport of retinol (vitamin A alcohol) from the liver storage site to peripheral tissue. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
RBP4	chr10	93591687	93601744	-	ENSG00000138207.13	protein_coding	MCOPCB10|RDCCAS	10q23.33	retinol binding protein 4	 This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. [provided by RefSeq, Jul 2008]
RBP7	chr1	9997206	10016020	+	ENSG00000162444.11	protein_coding	CRABP4|CRBP4|CRBPIV	1p36.22	retinol binding protein 7	The protein encoded by this gene is a member of the cellular retinol-binding protein (CRBP) family, whose members are required for vitamin A stability and metabolism. The encoded protein binds all-trans-retinol and is structurally similar to other CRBPs; however, it has a lower binding affinity for retinol than other CRBPs. [provided by RefSeq, Aug 2016]
RBPJ	chr4	26163455	26435131	+	ENSG00000168214.20	protein_coding	AOS3|CBF-1|CBF1|IGKJRB|IGKJRB1|KBF2|RBP-J|RBP-J kappa|RBP-JK|RBPJK|RBPSUH|SUH|csl	4p15.2	recombination signal binding protein for immunoglobulin kappa J region	The protein encoded by this gene is a transcriptional regulator important in the Notch signaling pathway. The encoded protein acts as a repressor when not bound to Notch proteins and an activator when bound to Notch proteins. It is thought to function by recruiting chromatin remodeling complexes containing histone deacetylase or histone acetylase proteins to Notch signaling pathway genes. Several transcript variants encoding different isoforms have been found for this gene, and several pseudogenes of this gene exist on chromosome 9. [provided by RefSeq, Oct 2013]
RBPMS	chr8	30384479	30572261	+	ENSG00000157110.15	protein_coding	HERMES	8p12	RNA binding protein, mRNA processing factor	This gene encodes a member of the RNA recognition motif family of RNA-binding proteins. The RNA recognition motif is between 80-100 amino acids in length and family members contain one to four copies of the motif. The RNA recognition motif consists of two short stretches of conserved sequence, as well as a few highly conserved hydrophobic residues. The encoded protein has a single, putative RNA recognition motif in its N-terminus. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
RBPMS2	chr15	64739892	64775587	-	ENSG00000166831.8	protein_coding	-	15q22.31	RNA binding protein, mRNA processing factor 2	Biased expression in heart (RPKM 68.7), urinary bladder (RPKM 14.2) and 8 other tissues
RBSN	chr3	15070073	15099163	-	ENSG00000131381.12	protein_coding	Rabenosyn-5|ZFYVE20	3p25.1	rabenosyn, RAB effector	This gene encodes a protein that belongs to the FYVE zinc finger family of proteins. The encoded protein interacts with Ras-related proteins that regulate membrane trafficking. A missense mutation in this gene is associated with a defect in the early endocytic pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
RBX1	chr22	40951347	40973309	+	ENSG00000100387.8	protein_coding	BA554C12.1|RNF75|ROC1	22q13.2	ring-box 1	This locus encodes a RING finger-like domain-containing protein. The encoded protein interacts with cullin proteins and likely plays a role in ubiquitination processes necessary for cell cycle progression. This protein may also affect protein turnover. Related pseudogenes exist on chromosomes 2 and 5.[provided by RefSeq, Sep 2010]
RC3H1	chr1	173931214	174022297	-	ENSG00000135870.11	protein_coding	FHL6|IMDSHY|RNF198|ROQUIN	1q25.1	ring finger and CCCH-type domains 1	This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3 UTR of mRNAs, leading to mRNA deadenylation and degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
RC3H2	chr9	122844556	122905341	-	ENSG00000056586.15	protein_coding	MNAB|RNF164	9q33.2	ring finger and CCCH-type domains 2	Ubiquitous expression in lymph node (RPKM 7.8), testis (RPKM 7.6) and 25 other tissues
RCAN1	chr21	34513142	34615142	-	ENSG00000159200.17	protein_coding	ADAPT78|CSP1|DSC1|DSCR1|MCIP1|RCN1	21q22.12	regulator of calcineurin 1	The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways, possibly affecting central nervous system development. This gene is located in the minimal candidate region for the Down syndrome phenotype, and is overexpressed in the brain of Down syndrome fetuses. Chronic overexpression of this gene may lead to neurofibrillary tangles such as those associated with Alzheimer disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
RCAN3	chr1	24502351	24541040	+	ENSG00000117602.11	protein_coding	DSCR1L2|MCIP3|RCN3|hRCN3	1p36.11	RCAN family member 3	Broad expression in prostate (RPKM 18.2), lymph node (RPKM 9.0) and 22 other tissues
RCBTB1	chr13	49531946	49585583	-	ENSG00000136144.11	protein_coding	CLLD7|CLLL7|GLP|RDEOA	13q14.2	RCC1 and BTB domain containing protein 1	This gene encodes a protein with an N-terminal RCC1 domain and a C-terminal BTB (broad complex, tramtrack and bric-a-brac) domain. In rat, over-expression of this gene in vascular smooth muscle cells induced cellular hypertrophy. In rat, the C-terminus of RCBTB1 interacts with the angiotensin II receptor-1A. In humans, this gene maps to a region of chromosome 13q that is frequently deleted in B-cell chronic lymphocytic leukemia and other lymphoid malignancies. [provided by RefSeq, Jul 2008]
RCBTB2	chr13	48488959	48533256	-	ENSG00000136161.12	protein_coding	CHC1L|RLG	13q14.2	RCC1 and BTB domain containing protein 2	This gene encodes a protein containing two C-terminal BTB/POZ domains that is related to regulator of chromosome condensation (RCC). The encoded protein may act as a guanine nucleotide exchange factor. This gene is observed to be lost or underexpressed in prostate cancers. There is a pseudogene of this gene on chromosome 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
RCC1	chr1	28505943	28539300	+	ENSG00000180198.15	protein_coding	CHC1|RCC1-I	1p35.3	regulator of chromosome condensation 1	Ubiquitous expression in testis (RPKM 13.1), lymph node (RPKM 11.7) and 25 other tissues
RCC1L	chr7	75027122	75074228	-	ENSG00000274523.4	protein_coding	WBSCR16	7q11.23	RCC1 like	This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
RCC2	chr1	17406760	17439724	-	ENSG00000179051.13	protein_coding	TD-60	1p36.13	regulator of chromosome condensation 2	The protein encoded by this gene is a guanine exchange factor that is active on RalA, a small GTPase. The encoded protein and RalA are both essential for proper kinetochore-microtubule function in early mitosis. This protein has been shown to be a biomarker for colorectal cancer. [provided by RefSeq, Oct 2016]
RCC2P3	chr7	138122202	138124595	+	ENSG00000233951.3	processed_pseudogene	-	7q33	regulator of chromosome condensation 2 pseudogene 3	-
RCC2P8	chr4	108788745	108789779	-	ENSG00000250185.2	processed_pseudogene	-	4q25	regulator of chromosome condensation 2 pseudogene 8	-
RCCD1	chr15	90954870	90963125	+	ENSG00000166965.12	protein_coding	-	15q26.1	RCC1 domain containing 1	-
RCE1	chr11	66842835	66846546	+	ENSG00000173653.7	protein_coding	FACE2|RCE1A|RCE1B	11q13.2	Ras converting CAAX endopeptidase 1	This gene encodes an integral membrane protein which is classified as a member of the metalloproteinase family.  This enzyme is thought to function in the maintenance and processing of CAAX-type prenylated proteins. [provided by RefSeq, Jul 2008]
RCHY1	chr4	75479037	75514764	-	ENSG00000163743.13	protein_coding	ARNIP|CHIMP|PIRH2|PRO1996|RNF199|ZCHY|ZNF363	4q21.1	ring finger and CHY zinc finger domain containing 1	The protein encoded by this gene has ubiquitin ligase activity. It mediates E3-dependent ubiquitination and proteasomal degradation of target proteins, including tumor protein 53, histone deacetylase 1, and cyclin-dependent kinase inhibitor 1B, thus regulating their levels and cell cycle progression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2013]
RCL1	chr9	4792869	4885917	+	ENSG00000120158.11	protein_coding	RNAC|RPCL1	9p24.1	RNA terminal phosphate cyclase like 1	Ubiquitous expression in liver (RPKM 21.6), fat (RPKM 15.5) and 25 other tissues
RCN1	chr11	31812391	32105755	+	ENSG00000049449.8	protein_coding	HEL-S-84|PIG20|RCAL|RCN	11p13	reticulocalbin 1	Reticulocalbin 1 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High conservation of amino acid residues outside of these motifs, in comparison to mouse reticulocalbin, is consistent with a possible biochemical function besides that of calcium binding. In human endothelial and prostate cancer cell lines this protein localizes to the plasma membrane.[provided by RefSeq, Jan 2009]
RCN2	chr15	76931619	76954392	+	ENSG00000117906.13	protein_coding	E6BP|ERC-55|ERC55|TCBP49	15q24.3	reticulocalbin 2	The protein encoded by this gene is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. This gene maps to the same region as type 4 Bardet-Biedl syndrome, suggesting a possible causative role for this gene in the disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
RCN3	chr19	49527618	49546962	+	ENSG00000142552.7	protein_coding	RLP49	19q13.33	reticulocalbin 3	Ubiquitous expression in fat (RPKM 12.8), placenta (RPKM 11.9) and 24 other tissues
RCOR1	chr14	102592661	102730576	+	ENSG00000089902.9	protein_coding	COREST|RCOR	14q32.31-q32.32	REST corepressor 1	This gene encodes a protein that is well-conserved, downregulated at birth, and with a specific role in determining neural cell differentiation. The encoded protein binds to the C-terminal domain of REST (repressor element-1 silencing transcription factor). [provided by RefSeq, Aug 2011]
RCOR2	chr11	63911221	63916844	-	ENSG00000167771.5	protein_coding	-	11q13.1	REST corepressor 2	-
RCOR3	chr1	211258377	211316385	+	ENSG00000117625.13	protein_coding	-	1q32.2-q32.3	REST corepressor 3	Ubiquitous expression in testis (RPKM 13.7), thyroid (RPKM 11.6) and 25 other tissues
RCSD1	chr1	167630093	167706249	+	ENSG00000198771.10	protein_coding	CAPZIP|MK2S4	1q24.2	RCSD domain containing 1	Broad expression in lymph node (RPKM 25.8), spleen (RPKM 16.7) and 20 other tissues
RCVRN	chr17	9896320	9905621	-	ENSG00000109047.7	protein_coding	RCV1	17p13.1	recoverin	This gene encodes a member of the recoverin family of neuronal calcium sensors. The encoded protein contains three calcium-binding EF-hand domains and may prolong the termination of the phototransduction cascade in the retina by blocking the phosphorylation of photo-activated rhodopsin. Recoverin may be the antigen responsible for cancer-associated retinopathy. [provided by RefSeq, Jul 2008]
RD3	chr1	211476522	211492917	-	ENSG00000198570.5	protein_coding	C1orf36|LCA12	1q32.3	RD3 regulator of GUCY2D	This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
RDH10	chr8	73294612	73325281	+	ENSG00000121039.9	protein_coding	SDR16C4	8q21.11	retinol dehydrogenase 10	This gene encodes a retinol dehydrogenase, which converts all-trans-retinol to all-trans-retinal, with preference for NADP as a cofactor. Studies in mice suggest that this protein is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development. [provided by RefSeq, Dec 2011]
RDH11	chr14	67676801	67695814	-	ENSG00000072042.12	protein_coding	ARSDR1|CGI82|HCBP12|MDT1|PSDR1|RALR1|RDJCSS|SCALD|SDR7C1	14q24.1	retinol dehydrogenase 11	The protein encoded by this gene is an NADPH-dependent retinal reductase and a short-chain dehydrogenase/reductase. The encoded protein has no steroid dehydrogenase activity. [provided by RefSeq, Nov 2011]
RDH12	chr14	67701886	67734452	+	ENSG00000139988.9	protein_coding	LCA13|RP53|SDR7C2	14q24.1	retinol dehydrogenase 12	The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 13 and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]
RDH13	chr19	55039108	55071291	-	ENSG00000160439.15	protein_coding	SDR7C3	19q13.42	retinol dehydrogenase 13	This gene encodes a mitochondrial short-chain dehydrogenase/reductase, which catalyzes the reduction and oxidation of retinoids. The encoded enzyme may function in retinoic acid production and may also protect the mitochondria against oxidative stress. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
RDH14	chr2	18554723	18560680	-	ENSG00000240857.1	protein_coding	PAN2|SDR7C4	2p24.2	retinol dehydrogenase 14	Ubiquitous expression in heart (RPKM 13.2), prostate (RPKM 10.6) and 25 other tissues
RDH16	chr12	56951431	56959374	-	ENSG00000139547.7	protein_coding	RODH-4|SDR9C8|hRDH-E	12q13.3	retinol dehydrogenase 16	Restricted expression toward liver (RPKM 111.9)
RDH5	chr12	55720367	55724705	+	ENSG00000135437.9	protein_coding	9cRDH|HSD17B9|RDH1|SDR9C5	12q13.2	retinol dehydrogenase 5	This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010]
RDM1	chr17	35918066	35930773	-	ENSG00000278023.5	protein_coding	RAD52B	17q12	RAD52 motif containing 1	This gene encodes a protein involved in the cellular response to cisplatin, a drug commonly used in chemotherapy. The protein encoded by this gene contains two motifs: a motif found in RAD52, a protein that functions in DNA double-strand breaks and homologous recombination, and an RNA recognition motif (RRM) that is not found in RAD52. The RAD52 motif region in RAD52 is important for protein function and may be involved in DNA binding or oligomerization. Alternatively spliced transcript variants encoding different isoforms have been reported. [provided by RefSeq, Jul 2008]
RDM1P1	chr17	 45553710	45559070	-	ENSG00000266504	pseudogene	-	17q21.31	RDM1 pseudogene 1	-
RDM1P2	chr17	 46503946	46509339	+	ENSG00000266497	pseudogene	-	17q21.31	RDM1 pseudogene 2	-
RDX	chr11	110174880	110296722	-	ENSG00000137710.14	protein_coding	DFNB24	11q22.3	radixin	Radixin is a cytoskeletal protein that may be important in linking actin to the plasma membrane. It is highly similar in sequence to both ezrin and moesin. The radixin gene has been localized by fluorescence in situ hybridization to 11q23. A truncated version representing a pseudogene (RDXP2) was assigned to Xp21.3. Another pseudogene that seemed to lack introns (RDXP1) was mapped to 11p by Southern and PCR analyses. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
REC114	chr15	73443158	73560014	+	ENSG00000183324.10	protein_coding	C15orf60|CT147|OOMD10	15q24.1	REC114 meiotic recombination protein	The protein encoded by this gene is orthologous to the mouse meiotic recombination protein REC114, which is involved in DNA double-strand break formation during meiosis. The encoded protein is conserved in most eukaryotes and was first discovered and characterized in yeast. [provided by RefSeq, Feb 2017]
REC8	chr14	24171853	24180257	+	ENSG00000100918.12	protein_coding	HR21spB|REC8L1|Rec8p	14q12	REC8 meiotic recombination protein	This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
RECQL	chr12	21468911	21501669	-	ENSG00000004700.15	protein_coding	RECQL1|RecQ1	12p12.1	RecQ like helicase	The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. The encoded protein is involved in the processing of Holliday junctions, the suppression of sister chromatid exchanges, telomere maintenance, and is required for genotoxic stress resistance. Defects in this gene have been associated with several types of cancer. [provided by RefSeq, Jan 2017]
RECQL4	chr8	144511288	144517845	-	ENSG00000160957.12	protein_coding	RECQ4	8q24.3	RecQ like helicase 4	The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
RECQL5	chr17	75626845	75667189	-	ENSG00000108469.14	protein_coding	RECQ5	17q25.1	RecQ like helicase 5	The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
REEP1	chr2	86213993	86338083	-	ENSG00000068615.17	protein_coding	C2orf23|HMN5B|SPG31|Yip2a	2p11.2	receptor accessory protein 1	This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
REEP2	chr5	138439017	138446969	+	ENSG00000132563.15	protein_coding	C5orf19|SGC32445|SPG72|Yip2d	5q31.2	receptor accessory protein 2	This gene encodes a member of the receptor expression enhancing protein family. Studies of a related gene in mouse suggest that the encoded protein is found in the cell membrane and enhances the function of sweet taste receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
REEP3	chr10	63521363	63625123	+	ENSG00000165476.13	protein_coding	C10orf74|Yip2b	10q21.3	receptor accessory protein 3	Ubiquitous expression in fat (RPKM 7.0), small intestine (RPKM 6.5) and 25 other tissues
REEP4	chr8	22138020	22141951	-	ENSG00000168476.11	protein_coding	C8orf20|PP432|Yip2c	8p21.3	receptor accessory protein 4	Predicted to enable microtubule binding activity. Involved in mitotic nuclear membrane reassembly. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
REEP5	chr5	112876379	112922539	-	ENSG00000129625.12	protein_coding	C5orf18|D5S346|DP1|POB16|TB2|YOP1|Yip2e	5q22.2	receptor accessory protein 5	Ubiquitous expression in thyroid (RPKM 89.7), brain (RPKM 63.5) and 25 other tissues
REEP6	chr19	1490747	1497927	+	ENSG00000115255.10	protein_coding	C19orf32|DP1L1|REEP6.1|REEP6.2|RP77|TB2L1|Yip2f	19p13.3	receptor accessory protein 6	The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membrane structure. This gene is required for the proper development of retinal rods and photoreceptors, with defects in this gene being associated with retinitis pigmentosa 77. [provided by RefSeq, May 2017]
REL	chr2	60881521	60931610	+	ENSG00000162924.13	protein_coding	C-Rel|HIVEN86A	2p16.1	REL proto-oncogene, NF-kB subunit	This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkins lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
REL-DT	chr2	 60847760	60881314	-	ENSG00000228414	ncRNA	LINC01185	2p16.1	REL divergent transcript	-
RELA	chr11	65653596	65663094	-	ENSG00000173039.18	protein_coding	CMCU|NFKB3|p65	11q13.1	RELA proto-oncogene, NF-kB subunit	NF-kappa-B is a ubiquitous transcription factor involved in several biological processes. It is held in the cytoplasm in an inactive state by specific inhibitors. Upon degradation of the inhibitor, NF-kappa-B moves to the nucleus and activates transcription of specific genes. NF-kappa-B is composed of NFKB1 or NFKB2 bound to either REL, RELA, or RELB. The most abundant form of NF-kappa-B is NFKB1 complexed with the product of this gene, RELA. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
RELB	chr19	45001430	45038198	+	ENSG00000104856.13	protein_coding	I-REL|IMD53|IREL|REL-B	19q13.32	RELB proto-oncogene, NF-kB subunit	Broad expression in bone marrow (RPKM 14.1), appendix (RPKM 10.1) and 25 other tissues
RELCH	chr18	 62187255	62310249	+	ENSG00000134444	protein-coding	HsT3308|HsT885|KIAA1468	18q21.33	RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing	Ubiquitous expression in skin (RPKM 6.0), esophagus (RPKM 5.7) and 25 other tissues
RELL1	chr4	37590800	37686376	-	ENSG00000181826.9	protein_coding	-	4p14	RELT like 1	-
RELL2	chr5	141636950	141641077	+	ENSG00000164620.8	protein_coding	C5orf16	5q31.3	RELT like 2	Ubiquitous expression in spleen (RPKM 5.1), lymph node (RPKM 4.7) and 24 other tissues
RELT	chr11	73376264	73397474	+	ENSG00000054967.12	protein_coding	AI3C|TNFRSF19L|TRLT	11q13.4	RELT TNF receptor	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is especially abundant in hematologic tissues. It has been shown to activate the NF-kappaB pathway and selectively bind TNF receptor-associated factor 1 (TRAF1). This receptor is capable of stimulating T-cell proliferation in the presence of CD3 signaling, which suggests its regulatory role in immune response. Two alternatively spliced transcript variants of this gene encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
REM1	chr20	31475293	31484905	+	ENSG00000088320.3	protein_coding	GD:REM|GES	20q11.21	RRAD and GEM like GTPase 1	The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells. [provided by RefSeq, Jul 2008]
REM2	chr14	22883165	22887686	+	ENSG00000139890.9	protein_coding	-	14q11.2	RRAD and GEM like GTPase 2	-
REN	chr1	204154819	204190324	-	ENSG00000143839.14	protein_coding	ADTKD4|HNFJ2|RTD	1q32.1	renin	This gene encodes renin, an aspartic protease that is secreted by the kidneys. Renin is a part of the renin-angiotensin-aldosterone system involved in regulation of blood pressure, and electrolyte balance. This enzyme catalyzes the first step in the activation pathway of angiotensinogen by cleaving angiotensinogen to form angiotensin I, which is then converted to angiotensin II by angiotensin I converting enzyme. This cascade can result in aldosterone release, narrowing of blood vessels, and increase in blood pressure as angiotension II is a vasoconstrictive peptide. Transcript variants that encode different protein isoforms and that arise from alternative splicing and the use of alternative promoters have been described, but their full-length nature has not been determined. Mutations in this gene have been shown to cause hyperuricemic nephropathy familial juvenile 2, familial hyperproreninemia, and renal tubular dysgenesis. [provided by RefSeq, May 2020]
RENBP	chrX	153935263	153944691	-	ENSG00000102032.12	protein_coding	RBP|RNBP	Xq28	renin binding protein	The gene product inhibits renin activity by forming a dimer with renin, a complex known as high molecular weight renin. The encoded protein contains a leucine zipper domain, which is essential for its dimerization with renin. The gene product can catalyze the interconversion of N-acetylglucosamine to N-acetylmannosamine, indicating that it is a GlcNAc 2-epimerase. Transcript variants utilizing alternative promoters have been described in the literature. [provided by RefSeq, Jul 2008]
REP15	chr12	27696519	27697596	+	ENSG00000174236.3	protein_coding	RAB15EP	12p11.22	RAB15 effector protein	The protein encoded by this intronless gene interacts with GTP-bound Rab15 and is involved in recycling of transferrin receptor from the endocytic recycling compartment to the cell surface. [provided by RefSeq, Sep 2016]
REPIN1	chr7	150368189	150374044	+	ENSG00000214022.11	protein_coding	AP4|RIP60|ZNF464|Zfp464	7q36.1	replication initiator 1	Ubiquitous expression in colon (RPKM 20.6), spleen (RPKM 16.1) and 25 other tissues
REPS1	chr6	138903493	138988261	-	ENSG00000135597.18	protein_coding	NBIA7|RALBP1	6q24.1	RALBP1 associated Eps domain containing 1	This gene encodes a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling, endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin-coated pits. The encoded protein has also been shown to interact with amphiphysin, a cytoplasmic protein at the surface of synaptic vesicles. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
REPS2	chrX	16946691	17153280	+	ENSG00000169891.17	protein_coding	POB1	Xp22.2	RALBP1 associated Eps domain containing 2	The product of this gene is part of a protein complex that regulates the endocytosis of growth factor receptors. The encoded protein directly interacts with a GTPase activating protein that functions downstream of the small G protein Ral. Its expression can negatively affect receptor internalization and inhibit growth factor signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
RER1	chr1	2391775	2405444	+	ENSG00000157916.19	protein_coding	-	1p36.32	retention in endoplasmic reticulum sorting receptor 1	Ubiquitous expression in colon (RPKM 20.8), adrenal (RPKM 20.4) and 25 other tissues
RERE	chr1	8352397	8817643	-	ENSG00000142599.17	protein_coding	ARG|ARP|ATN1L|DNB1|NEDBEH	1p36.23	arginine-glutamic acid dipeptide repeats	This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
RERG	chr12	15107783	15348675	-	ENSG00000134533.6	protein_coding	-	12p12.3	RAS like estrogen regulated growth inhibitor	Broad expression in endometrium (RPKM 41.3), adrenal (RPKM 21.0) and 16 other tissues
RESF1	chr12	 31959415	31993107	+	ENSG00000174718	protein-coding	C12orf35|GET|KIAA1551|UTA2-1	12p11.21	retroelement silencing factor 1	Broad expression in lymph node (RPKM 38.5), ovary (RPKM 35.0) and 24 other tissues
RESP18	chr2	219327409	219333177	-	ENSG00000182698.11	protein_coding	-	2q35	regulated endocrine specific protein 18	-
REST	chr4	56907876	56966678	+	ENSG00000084093.16	protein_coding	DFNA27|GINGF5|HGF5|NRSF|WT6|XBR	4q12	RE1 silencing transcription factor	This gene was initially identified as a transcriptional repressor that represses neuronal genes in non-neuronal tissues. However, depending on the cellular context, this gene can act as either an oncogene or a tumor suppressor. The encoded protein is a member of the Kruppel-type zinc finger transcription factor family. It represses transcription by binding a DNA sequence element called the neuron-restrictive silencer element. The protein is also found in undifferentiated neuronal progenitor cells and it is thought that this repressor may act as a master negative regulator of neurogenesis. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2018]
RET	chr10	43077027	43130351	+	ENSG00000165731.18	protein_coding	CDHF12|CDHR16|HSCR1|MEN2A|MEN2B|MTC1|PTC|RET-ELE1	10q11.21	ret proto-oncogene	This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related proteins to the encoded receptor stimulates receptor dimerization and activation of downstream signaling pathways that play a role in cell differentiation, growth, migration and survival. The encoded receptor is important in development of the nervous system, and the development of organs and tissues derived from the neural crest. This proto-oncogene can undergo oncogenic activation through both cytogenetic rearrangement and activating point mutations. Mutations in this gene are associated with Hirschsprung disease and central hypoventilation syndrome and have been identified in patients with renal agenesis. [provided by RefSeq, Sep 2017]
RETN	chr19	7669044	7670454	+	ENSG00000104918.7	protein_coding	ADSF|FIZZ3|RETN1|RSTN|XCP1	19p13.2	resistin	This gene belongs to the family defined by the mouse resistin-like genes. The characteristic feature of this family is the C-terminal stretch of 10 cys residues with identical spacing. The mouse homolog of this protein is secreted by adipocytes, and may be the hormone potentially linking obesity to type II diabetes. The encoded protein also has an antimicrobial role in skin, displaying antibacterial activity against both Gram positive and Gram negative bacteria. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2020]
RETNLB	chr3	108743424	108757384	-	ENSG00000163515.6	protein_coding	FIZZ1|FIZZ2|HXCP2|RELM-beta|RELMb|RELMbeta|XCP2	3q13.13	resistin like beta	Predicted to enable hormone activity. Involved in epithelial cell proliferation. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
RETREG2	chr2	 219178275	219185475	+	ENSG00000144567	protein-coding	C2orf17|FAM134A|MAG-2	2q35	reticulophagy regulator family member 2	Ubiquitous expression in testis (RPKM 39.6), brain (RPKM 29.7) and 25 other tissues
RETREG3	chr17	 42579508	42609427	-	ENSG00000141699	protein-coding	FAM134C	17q21.2	reticulophagy regulator family member 3	Ubiquitous expression in testis (RPKM 16.0), skin (RPKM 14.1) and 25 other tissues
RETSAT	chr2	85342088	85354620	-	ENSG00000042445.13	protein_coding	-	2p11.2	retinol saturase	-
REV1	chr2	99400475	99490035	-	ENSG00000135945.9	protein_coding	AIBP80|REV1L	2q11.2	REV1 DNA directed polymerase	This gene encodes a protein with similarity to the S. cerevisiae mutagenesis protein Rev1. The Rev1 proteins contain a BRCT domain, which is important in protein-protein interactions. A suggested role for the human Rev1-like protein is as a scaffold that recruits DNA polymerases involved in translesion synthesis (TLS) of damaged DNA. [provided by RefSeq, Mar 2016]
REV3L	chr6	111299028	111483715	-	ENSG00000009413.15	protein_coding	POLZ|REV3	6q21	REV3 like, DNA directed polymerase zeta catalytic subunit	The protein encoded by this gene represents the catalytic subunit of DNA polymerase zeta, which functions in translesion DNA synthesis. The encoded protein can be found in mitochondria, where it protects DNA from damage. Defects in this gene are a cause of Mobius syndrome. [provided by RefSeq, Jan 2017]
REX1BD	chr19	 18588798	18592337	+	ENSG00000006015	protein-coding	C19orf60	19p13.11	required for excision 1-B domain containing	Ubiquitous expression in fat (RPKM 15.5), spleen (RPKM 13.5) and 23 other tissues
REXO1	chr19	1815246	1848463	-	ENSG00000079313.13	protein_coding	ELOABP1|EloA-BP1|REX1|TCEB3BP1	19p13.3	RNA exonuclease 1 homolog	Broad expression in testis (RPKM 12.3), spleen (RPKM 7.5) and 25 other tissues
REXO2	chr11	114439386	114450279	+	ENSG00000076043.9	protein_coding	CGI-114|REX2|RFN|SFN	11q23.2	RNA exonuclease 2	This gene encodes a 3-to-5 exonuclease specific for small (primarily 5 nucleotides or less in length) single-stranded RNA and DNA oligomers. This protein may have a role in DNA repair, replication, and recombination, and in RNA processing and degradation. It may also be involved in resistance of human cells to UV-C-induced cell death through its role in the DNA repair process. [provided by RefSeq, Nov 2011]
REXO4	chr9	133406059	133418096	-	ENSG00000148300.11	protein_coding	REX4|XPMC2|XPMC2H	9q34.2	REX4 homolog, 3'-5' exonuclease	Ubiquitous expression in ovary (RPKM 10.2), testis (RPKM 9.8) and 25 other tissues
RFC1	chr4	39287456	39366375	-	ENSG00000035928.15	protein_coding	A1|CANVAS|MHCBFB|PO-GA|RECC1|RFC|RFC140	4p14	replication factor C subunit 1	This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3 end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
RFC4	chr3	186789880	186807058	-	ENSG00000163918.10	protein_coding	A1|RFC37	3q27.3	replication factor C subunit 4	The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kD. This gene encodes the 37 kD subunit. This subunit forms a core complex with the 36 and 40 kDa subunits. The core complex possesses DNA-dependent ATPase activity, which was found to be stimulated by PCNA in an in vitro system. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
RFC5	chr12	118013588	118033130	+	ENSG00000111445.13	protein_coding	RFC36	12q24.23	replication factor C subunit 5	This gene encodes the smallest subunit of the replication factor C complex, which consists of five distinct subunits (140, 40, 38, 37, and 36 kDa) and is required for DNA replication. This subunit interacts with the C-terminal region of proliferating cell nuclear antigen and is required to open and load proliferating cell nuclear antigen onto DNA during S phase. It is a member of the AAA+ (ATPases associated with various cellular activities) ATPase family and forms a core complex with the 38 and 40 kDa subunits that possesses DNA-dependent ATPase activity. A related pseudogene has been identified on chromosome 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
RFESD	chr5	95646754	95684773	+	ENSG00000175449.13	protein_coding	-	5q15	Rieske Fe-S domain containing	-
RFFL	chr17	35005990	35089319	-	ENSG00000092871.16	protein_coding	CARP-2|CARP2|FRING|RIFIFYLIN|RNF189|RNF34L	17q12	ring finger and FYVE like domain containing E3 ubiquitin protein ligase	Ubiquitous expression in thyroid (RPKM 18.0), esophagus (RPKM 12.3) and 25 other tissues
RFK	chr9	76385517	76394517	-	ENSG00000135002.11	protein_coding	RIFK	9q21.13	riboflavin kinase	Riboflavin kinase (RFK; EC 2.7.1.26) is an essential enzyme that catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin mononucleotide (FMN), an obligatory step in vitamin B2 utilization and flavin cofactor synthesis (Karthikeyan et al., 2003 [PubMed 12623014]).[supplied by OMIM, Nov 2009]
RFLNA	chr12	123973241	124316024	+	ENSG00000178882.14	protein_coding	CFM2|FAM101A	12q24.31	refilin A	Biased expression in stomach (RPKM 48.3), colon (RPKM 10.5) and 2 other tissues
RFLNB	chr17	439978	445939	-	ENSG00000183688.4	protein_coding	CFM1|FAM101B	17p13.3	refilin B	Annotation category: suggests misassembly
RFNG	chr17	82047902	82051831	-	ENSG00000169733.11	protein_coding	-	17q25.3	RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	-
RFPL1S	chr22	29436534	29478175	-	ENSG00000225465.8	antisense	NCRNA00006|RFPL1-AS|RFPL1-AS1|RFPL1AS	22q12.2	RFPL1 antisense RNA 1	-
RFPL2	chr22	32190435	32203477	-	ENSG00000128253.13	protein_coding	RNF79	22q12.3	ret finger protein like 2	Biased expression in prostate (RPKM 5.5) and brain (RPKM 0.5)
RFPL3S	chr22	32359906	32382052	-	ENSG00000205853.10	protein_coding	NCRNA00005|RFPL3-AS|RFPL3-AS1|RFPL3ANT|RFPL3AS	22q12.3	RFPL3 antisense	Restricted expression toward testis (RPKM 31.5)
RFPL4A	chr19	55759014	55763175	+	ENSG00000223638.3	protein_coding	RFPL4|RNF210	19q13.42	ret finger protein like 4A	Low expression observed in reference dataset
RFT1	chr3	53088483	53130462	-	ENSG00000163933.9	protein_coding	CDG1N	3p21.1	RFT1 homolog	This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008]
RFTN2	chr2	197568224	197676045	-	ENSG00000162944.10	protein_coding	C2orf11|Raftlin-2	2q33.1	raftlin family member 2	Broad expression in brain (RPKM 9.8), fat (RPKM 3.7) and 18 other tissues
RFWD3	chr16	74621394	74666881	-	ENSG00000168411.13	protein_coding	FANCW|RNF201	16q23.1	ring finger and WD repeat domain 3	Broad expression in testis (RPKM 15.0), bone marrow (RPKM 14.7) and 25 other tissues
RFX1	chr19	13961538	14007039	-	ENSG00000132005.8	protein_coding	EFC|RFX	19p13.12	regulatory factor X1	This gene encodes a member of the regulatory factor X (RFX) family of transcription factors, which are characterized by a winged-helix DNA-binding domain. The encoded transcription factor contains an N-terminal activation domain and a C-terminal repression domain, and may activate or repress target gene expression depending on cellular context. This transcription factor has been shown to regulate a wide variety of genes involved in immunity and cancer, including the MHC class II genes and genes that may be involved in cancer progression. This gene exhibits altered expression in glioblastoma and the autoimmune disease systemic lupus erythematosis (SLE). [provided by RefSeq, Jul 2016]
RFX2	chr19	5993164	6199572	-	ENSG00000087903.12	protein_coding	-	19p13.3	regulatory factor X2	Biased expression in testis (RPKM 41.1), lung (RPKM 6.6) and 4 other tissues
RFX3	chr9	3218297	3526004	-	ENSG00000080298.15	protein_coding	-	9p24.2	regulatory factor X3	Broad expression in testis (RPKM 2.7), brain (RPKM 2.6) and 24 other tissues
RFX4	chr12	106582907	106762803	+	ENSG00000111783.12	protein_coding	NYD-SP10	12q23.3	regulatory factor X4	This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X3, and X5. It has been shown to interact with itself as well as with regulatory factors X2 and X3, but it does not interact with regulatory factor X1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
RFX5	chr1	151340640	151347357	-	ENSG00000143390.17	protein_coding	-	1q21.3	regulatory factor X5	Ubiquitous expression in lymph node (RPKM 26.5), spleen (RPKM 21.2) and 24 other tissues
RFX6	chr6	116877212	116932163	+	ENSG00000185002.9	protein_coding	MTCHRS|MTFS|RFXDC1|dJ955L16.1	6q22.1	regulatory factor X6	The nuclear protein encoded by this gene is a member of the regulatory factor X (RFX) family of transcription factors. Studies in mice suggest that this gene is specifically required for the differentiation of islet cells for the production of insulin, but not for the differentiation of pancreatic polypeptide-producing cells. It regulates the transcription factors involved in beta-cell maturation and function, thus, restricting the expression of the beta-cell differentiation and specification genes. Mutations in this gene are associated with Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.[provided by RefSeq, Sep 2010]
RFX7	chr15	56087280	56243266	-	ENSG00000181827.14	protein_coding	RFXDC2	15q21.3	regulatory factor X7	RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009]
RFX8	chr2	101397361	101474703	-	ENSG00000196460.12	protein_coding	-	2q11.2	regulatory factor X8	-
RFXANK	chr19	19192229	19201869	+	ENSG00000064490.13	protein_coding	ANKRA1|BLS|F14150_1|RFX-B	19p13.11	regulatory factor X associated ankyrin containing protein	Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. This protein contains ankyrin repeats involved in protein-protein interactions. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2013]
RGCC	chr13	41457559	41470882	+	ENSG00000102760.12	protein_coding	C13orf15|RGC-32|RGC32|bA157L14.2	13q14.11	regulator of cell cycle	This gene is thought to regulate cell cycle progression. It is induced by p53 in response to DNA damage, or by sublytic levels of complement system proteins that result in activation of the cell cycle. The encoded protein localizes to the cytoplasm during interphase and to centrosomes during mitosis. The protein forms a complex with polo-like kinase 1. The protein also translocates to the nucleus in response to treatment with complement system proteins, and can associate with and increase the kinase activity of cell division cycle 2 protein. In different assays and cell types, overexpression of this protein has been shown to activate or suppress cell cycle progression. [provided by RefSeq, Jul 2008]
RGL1	chr1	183636085	183928531	+	ENSG00000143344.15	protein_coding	RGL	1q25.3	ral guanine nucleotide dissociation stimulator like 1	Ubiquitous expression in spleen (RPKM 23.7), brain (RPKM 15.5) and 22 other tissues
RGL2	chr6	33291654	33299324	-	ENSG00000237441.9	protein_coding	HKE1.5|KE1.5|RAB2L	6p21.32	ral guanine nucleotide dissociation stimulator like 2	Ubiquitous expression in spleen (RPKM 40.1), prostate (RPKM 26.5) and 25 other tissues
RGL3	chr19	11384341	11419342	-	ENSG00000205517.12	protein_coding	-	19p13.2	ral guanine nucleotide dissociation stimulator like 3	-
RGL4	chr22	23688136	23699176	+	ENSG00000159496.14	protein_coding	Rgr	22q11.23	ral guanine nucleotide dissociation stimulator like 4	This oncogene encodes a protein similar to guanine nucleotide exchange factor Ral guanine dissociation stimulator. Increased expression of this gene leads to translocation of the encoded protein to the cell membrane. The encoded protein can activate several pathways, including the Ras-Raf-MEK-ERK cascade. [provided by RefSeq, Jul 2016]
RGMA	chr15	93035273	93089204	-	ENSG00000182175.13	protein_coding	RGM	15q26.1	repulsive guidance molecule BMP co-receptor a	This gene encodes a member of the repulsive guidance molecule family. The encoded protein is a glycosylphosphatidylinositol-anchored glycoprotein that functions as an axon guidance protein in the developing and adult central nervous system. This protein may also function as a tumor suppressor in some cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
RGMB	chr5	98768650	98798643	+	ENSG00000174136.11	protein_coding	DRAGON	5q15	repulsive guidance molecule BMP co-receptor b	RGMB is a glycosylphosphatidylinositol (GPI)-anchored member of the repulsive guidance molecule family (see RGMA, MIM 607362) and contributes to the patterning of the developing nervous system (Samad et al., 2005 [PubMed 15671031]).[supplied by OMIM, Apr 2009]
RGP1	chr9	35749287	35758575	+	ENSG00000107185.9	protein_coding	KIAA0258	9p13.3	RGP1 homolog, RAB6A GEF complex partner 1	Ubiquitous expression in thyroid (RPKM 11.4), kidney (RPKM 9.6) and 25 other tissues
RGPD1	chr2	86907953	87013981	+	ENSG00000187627.14	protein_coding	RGP1|RGPD2|RanBP2L2|ranBP2L6	2p11.2	RANBP2 like and GRIP domain containing 1	Broad expression in testis (RPKM 17.9), liver (RPKM 7.1) and 23 other tissues
RGPD2	chr2	87755955	87825952	-	ENSG00000185304.14	protein_coding	NUP358|RANBP2L2|RGP2	2p11.2	RANBP2 like and GRIP domain containing 2	Broad expression in testis (RPKM 17.3), placenta (RPKM 6.4) and 23 other tissues
RGPD4	chr2	107826937	107890841	+	ENSG00000196862.9	protein_coding	RGP4	2q12.3	RANBP2 like and GRIP domain containing 4	Broad expression in testis (RPKM 18.2), thyroid (RPKM 5.7) and 25 other tissues
RGPD4-AS1	chr2	107823063	107826891	-	ENSG00000230651.7	lincRNA	-	2q12.3	RGPD4 antisense RNA 1 (head to head)	-
RGPD6	chr2	110513812	110577185	-	ENSG00000183054.11	protein_coding	RGP6|RGPD7|RanBP2L1|RanBP2L2	2q13	RANBP2 like and GRIP domain containing 6	Broad expression in testis (RPKM 24.0), brain (RPKM 8.3) and 25 other tissues
RGPD8	chr2	112370092	112434488	-	ENSG00000169629.11	protein_coding	RANBP2L1|RGP8|RanBP2alpha	2q14.1	RANBP2 like and GRIP domain containing 8	Broad expression in testis (RPKM 26.7), brain (RPKM 9.2) and 25 other tissues
RGS1	chr1	192575727	192580031	+	ENSG00000090104.11	protein_coding	1R20|BL34|HEL-S-87|IER1|IR20	1q31.2	regulator of G protein signaling 1	This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008]
RGS10	chr10	119499828	119542708	-	ENSG00000148908.14	protein_coding	-	10q26.11	regulator of G protein signaling 10	Ubiquitous expression in lymph node (RPKM 32.4), appendix (RPKM 20.0) and 24 other tissues
RGS11	chr16	268301	275980	-	ENSG00000076344.15	protein_coding	RS11	16p13.3	regulator of G protein signaling 11	The protein encoded by this gene belongs to the RGS (regulator of G protein signaling) family. Members of the RGS family act as GTPase-activating proteins on the alpha subunits of heterotrimeric, signal-transducing G proteins. This protein inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Alternative splicing occurs at this locus and four transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2013]
RGS12	chr4	3293028	3439913	+	ENSG00000159788.18	protein_coding	-	4p16.3	regulator of G protein signaling 12	Ubiquitous expression in skin (RPKM 3.7), brain (RPKM 3.2) and 24 other tissues
RGS14	chr5	177357837	177372601	+	ENSG00000169220.17	protein_coding	-	5q35.3	regulator of G protein signaling 14	Broad expression in spleen (RPKM 15.0), lymph node (RPKM 11.5) and 23 other tissues
RGS16	chr1	182598623	182604408	-	ENSG00000143333.6	protein_coding	A28-RGS14|A28-RGS14P|RGS-R	1q25.3	regulator of G protein signaling 16	The protein encoded by this gene belongs to the regulator of G protein signaling family. It inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits. It also may play a role in regulating the kinetics of signaling in the phototransduction cascade. [provided by RefSeq, Jul 2008]
RGS17	chr6	153004459	153131249	-	ENSG00000091844.7	protein_coding	RGS-17|RGSZ2|hRGS17	6q25.2	regulator of G protein signaling 17	This gene encodes a member of the regulator of G-protein signaling family. This protein contains a conserved, 120 amino acid motif called the RGS domain and a cysteine-rich region. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008]
RGS17P1	chr13	40992779	40993331	-	ENSG00000229473.2	processed_pseudogene	-	13q14.11	regulator of G protein signaling 17 pseudogene 1	-
RGS18	chr1	192158457	192185815	+	ENSG00000150681.9	protein_coding	RGS13	1q31.2	regulator of G protein signaling 18	This gene encodes a member of the regulator of G-protein signaling family. This protein is contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
RGS19	chr20	64073181	64079988	-	ENSG00000171700.13	protein_coding	GAIP|RGSGAIP	20q13.33	regulator of G protein signaling 19	G proteins mediate a number of cellular processes. The protein encoded by this gene belongs to the RGS (regulators of G-protein signaling) family and specifically interacts with G protein, GAI3. This protein is a guanosine triphosphatase-activating protein that functions to down-regulate Galpha i/Galpha q-linked signaling. Alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]
RGS2	chr1	192809039	192812283	+	ENSG00000116741.7	protein_coding	G0S8	1q31.2	regulator of G protein signaling 2	Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 2 belongs to this family. The protein acts as a mediator of myeloid differentiation and may play a role in leukemogenesis. [provided by RefSeq, Aug 2009]
RGS22	chr8	99960936	100131268	-	ENSG00000132554.19	protein_coding	CT145|PRTD-NY2	8q22.2	regulator of G protein signaling 22	Biased expression in testis (RPKM 35.2), ovary (RPKM 3.9) and 1 other tissue
RGS3	chr9	113444731	113597743	+	ENSG00000138835.22	protein_coding	C2PA|RGP3	9q32	regulator of G protein signaling 3	This gene encodes a member of the regulator of G-protein signaling (RGS) family. This protein is a GTPase-activating protein that inhibits G-protein-mediated signal transduction. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different isoforms. Long isoforms are largely cytosolic and plasma membrane-associated with a function in Wnt signaling and in the epithelial mesenchymal transition, while shorter N-terminally-truncated isoforms can be nuclear. [provided by RefSeq, Jan 2013]
RGS5	chr1	163111121	163321791	-	ENSG00000143248.12	protein_coding	MST092|MST106|MST129|MSTP032|MSTP092|MSTP106|MSTP129	1q23.3	regulator of G protein signaling 5	This gene encodes a member of the regulators of G protein signaling (RGS) family. The RGS proteins are signal transduction molecules which are involved in the regulation of heterotrimeric G proteins by acting as GTPase activators. This gene is a hypoxia-inducible factor-1 dependent, hypoxia-induced gene which is involved in the induction of endothelial apoptosis. This gene is also one of three genes on chromosome 1q contributing to elevated blood pressure. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Dec 2011]
RGS6	chr14	71932439	72566529	+	ENSG00000182732.16	protein_coding	GAP|HA117|S914	14q24.2	regulator of G protein signaling 6	This gene encodes a member of the RGS (regulator of G protein signaling) family of proteins, which are defined by the presence of a RGS domain that confers the GTPase-activating activity of these proteins toward certain G alpha subunits. This protein also belongs to a subfamily of RGS proteins characterized by the presence of DEP and GGL domains, the latter a G beta 5-interacting domain. The RGS proteins negatively regulate G protein signaling, and may modulate neuronal, cardiovascular, lymphocytic activities, and cancer risk. Many alternatively spliced transcript variants encoding different isoforms with long or short N-terminal domains, complete or incomplete GGL domains, and distinct C-terminal domains, have been described for this gene, however, the full-length nature of some of these variants is not known.[provided by RefSeq, Mar 2011]
RGS7BP	chr5	64506257	64612312	+	ENSG00000186479.4	protein_coding	R7BP	5q12.3	regulator of G protein signaling 7 binding protein	This gene encodes a protein that binds to all members of the R7 subfamily of regulators of G protein signaling and regulates their translocation between the nucleus and the plasma membrane. The encoded protein could be regulated by reversible palmitoylation, which anchors it to the plasma membrane. Depalmitoylation localizes the protein to the nucleus. Polymorphisms in this gene may be associated with risk of aspirin-exacerbated respiratory disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]
RGS8	chr1	182641816	182684576	-	ENSG00000135824.12	protein_coding	-	1q25.3	regulator of G protein signaling 8	Biased expression in thyroid (RPKM 1.7), brain (RPKM 1.0) and 3 other tissues
RGS9	chr17	65100812	65227703	+	ENSG00000108370.16	protein_coding	PERRS|RGS9L	17q24.1	regulator of G protein signaling 9	This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G proteins in the rod and cone phototransduction cascades. Mutations in this gene result in bradyopsia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
RGS9BP	chr19	32675407	32678300	+	ENSG00000186326.3	protein_coding	PERRS|R9AP|RGS9	19q13.11	regulator of G protein signaling 9 binding protein	The protein encoded by this gene functions as a regulator of G protein-coupled receptor signaling in phototransduction. Studies in bovine and mouse show that this gene is expressed only in the retina, and is localized in the rod outer segment membranes. This protein is associated with a heterotetrameric complex, specifically interacting with the regulator of G-protein signaling 9, and appears to function as the membrane anchor for the other largely soluble interacting partners. Mutations in this gene are associated with prolonged electroretinal response suppression (PERRS), also known as bradyopsia. [provided by RefSeq, Mar 2010]
RHBDD1	chr2	226835581	226999215	+	ENSG00000144468.16	protein_coding	RHBDL4|RRP4	2q36.3	rhomboid domain containing 1	Ubiquitous expression in testis (RPKM 3.8), thyroid (RPKM 3.6) and 25 other tissues
RHBDD2	chr7	75842602	75888926	+	ENSG00000005486.16	protein_coding	NPD007|RHBDL7	7q11.23	rhomboid domain containing 2	The protein encoded by this gene is a member of the rhomboid family of membrane-bound proteases and is overexpressed in some breast cancers. Members of this family are involved in intramembrane proteolysis. In mouse, the orthologous protein associates with the Golgi body. [provided by RefSeq, Sep 2016]
RHBDD3	chr22	29259852	29268209	-	ENSG00000100263.13	protein_coding	C22orf3|HS984G1A|PTAG	22q12.2	rhomboid domain containing 3	Ubiquitous expression in testis (RPKM 5.8), prostate (RPKM 4.1) and 25 other tissues
RHBDF1	chr16	58059	76355	-	ENSG00000007384.15	protein_coding	C16orf8|Dist1|EGFR-RS|gene-89|gene-90|hDist1	16p13.3	rhomboid 5 homolog 1	Ubiquitous expression in placenta (RPKM 12.8), prostate (RPKM 9.9) and 24 other tissues
RHBDL1	chr16	675666	678268	+	ENSG00000103269.13	protein_coding	RHBDL|RRP	16p13.3	rhomboid like 1	This gene encodes a protein similar to Rhomboid in Drosophila which is involved in signalling in the Spitz/epidermal growth factor receptor/mitogen-activated protein kinase pathway. The Rhomboid family of proteins consists of intramembrane serine proteases containing several transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
RHBDL2	chr1	38885807	38941799	-	ENSG00000158315.10	protein_coding	RRP2	1p34.3	rhomboid like 2	The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases. The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrin B3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
RHBDL3	chr17	32266176	32324661	+	ENSG00000141314.12	protein_coding	RHBDL4|VRHO	17q11.2	rhomboid like 3	Biased expression in brain (RPKM 5.3), adrenal (RPKM 1.6) and 5 other tissues
RHBG	chr1	156369212	156385219	+	ENSG00000132677.12	protein_coding	SLC42A2	1q22	Rh family B glycoprotein	This gene encodes one of two non-erythroid members of the Rhesus (Rh) protein family. Non-erythroid Rh protein family members are mainly expressed in the kidney and belong to the methylammonium-ammonium permease/ammonia transporters superfamily. All Rh family proteins are predicted to be transmembrane proteins with 12 membrane spanning domains and intracytoplasmic N- and C-termini. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]
RHCE	chr1	25362249	25430192	-	ENSG00000188672.17	protein_coding	CD240CE|RH|RH30A|RHC|RHCe(152N)|RHE|RHIXB|RHNA|RHPI|Rh4|RhIVb(J)|RhVI|RhVIII	1p36.11	Rh blood group CcEe antigens	The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene which encodes both the RhC and RhE antigens on a single polypeptide and a second gene which encodes the RhD protein. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. A mutation in this gene results in amorph-type Rh-null disease. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Aug 2016]
RHCG	chr15	89471398	89496613	-	ENSG00000140519.12	protein_coding	C15orf6|PDRC2|RHGK|SLC42A3	15q26.1	Rh family C glycoprotein	Restricted expression toward esophagus (RPKM 1491.4)
RHD	chr1	25272393	25330445	+	ENSG00000187010.19	protein_coding	CD240D|DIIIc|HDFNRH|RH|RH30|RHCED|RHDVA(TT)|RHDel|RHPII|RHXIII|Rh4|RhDCw|RhII|RhK562-II|RhPI	1p36.11	Rh blood group D antigen	The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene, which encodes the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
RHEB	chr7	151466012	151520120	-	ENSG00000106615.9	protein_coding	RHEB2	7q36.1	Ras homolog, mTORC1 binding	This gene is a member of the small GTPase superfamily and encodes a lipid-anchored, cell membrane protein with five repeats of the RAS-related GTP-binding region. This protein is vital in regulation of growth and cell cycle progression due to its role in the insulin/TOR/S6K signaling pathway. The protein has GTPase activity and shuttles between a GDP-bound form and a GTP-bound form, and farnesylation of the protein is required for this activity. Three pseudogenes have been mapped, two on chromosome 10 and one on chromosome 22. [provided by RefSeq, Jul 2008]
RHEBL1	chr12	49064685	49070025	-	ENSG00000167550.10	protein_coding	RHEBL1c	12q13.12	RHEB like 1	Low expression observed in reference dataset
RHEX	chr1	 206053173	206102449	+	ENSG00000263961	protein-coding	C1orf186	1q32.1	regulator of hemoglobinization and erythroid cell expansion	Broad expression in endometrium (RPKM 4.0), gall bladder (RPKM 2.3) and 16 other tissues
RHNO1	chr12	2876258	2889523	+	ENSG00000171792.10	protein_coding	C12orf32|HKMT1188|RHINO	12p13.33	RAD9-HUS1-RAD1 interacting nuclear orphan 1	Ubiquitous expression in thyroid (RPKM 7.6), lymph node (RPKM 7.3) and 25 other tissues
RHOA	chr3	49359145	49412998	-	ENSG00000067560.10	protein_coding	ARH12|ARHA|EDFAOB|RHO12|RHOH12	3p21.31	ras homolog family member A	This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. Overexpression of this gene is associated with tumor cell proliferation and metastasis. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]
RHOA-IT1	chr3	49365145	49367006	-	ENSG00000235908.1	sense_intronic	-	3p21.31	RHOA intronic transcript 1	-
RHOB	chr2	20447074	20449445	+	ENSG00000143878.9	protein_coding	ARH6|ARHB|MST081|MSTP081|RHOH6	2p24.1	ras homolog family member B	-
RHOBTB1	chr10	60869438	61001440	-	ENSG00000072422.16	protein_coding	-	10q21.2	Rho related BTB domain containing 1	Broad expression in placenta (RPKM 10.3), kidney (RPKM 7.3) and 22 other tissues
RHOBTB2	chr8	22987417	23020199	+	ENSG00000008853.16	protein_coding	DBC2|DEE64|EIEE64|p83	8p21.3	Rho related BTB domain containing 2	The protein encoded by this gene is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell division. This protein inhibits the growth and spread of some types of breast cancer. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
RHOBTB3	chr5	95713522	95824383	+	ENSG00000164292.12	protein_coding	-	5q15	Rho related BTB domain containing 3	Ubiquitous expression in fat (RPKM 37.7), ovary (RPKM 32.7) and 24 other tissues
RHOC	chr1	112701106	112707434	-	ENSG00000155366.16	protein_coding	ARH9|ARHC|H9|RHOH9	1p13.2	ras homolog family member C	This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The protein encoded by this gene is prenylated at its C-terminus, and localizes to the cytoplasm and plasma membrane. It is thought to be important in cell locomotion. Overexpression of this gene is associated with tumor cell proliferation and metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
RHOD	chr11	67056818	67072013	+	ENSG00000173156.6	protein_coding	ARHD|RHOHP1|RHOM|Rho	11q13.2	ras homolog family member D	Ras homolog, or Rho, proteins interact with protein kinases and may serve as targets for activated GTPase. They play a critical role in muscle differentiation. The protein encoded by this gene binds GTP and is a member of the small GTPase superfamily. It is involved in endosome dynamics and reorganization of the actin cytoskeleton, and it may coordinate membrane transport with the function of the cytoskeleton. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
RHOF	chr12	121777754	121803403	-	ENSG00000139725.7	protein_coding	ARHF|RIF	12q24.31	ras homolog family member F, filopodia associated	Broad expression in lymph node (RPKM 15.7), bone marrow (RPKM 15.5) and 23 other tissues
RHOG	chr11	3826978	3840983	-	ENSG00000177105.9	protein_coding	ARHG	11p15.4	ras homolog family member G	This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein facilitates translocation of a functional guanine nucleotide exchange factor (GEF) complex from the cytoplasm to the plasma membrane where ras-related C3 botulinum toxin substrate 1 is activated to promote lamellipodium formation and cell migration. Two related pseudogene have been identified on chromosomes 20 and X. [provided by RefSeq, Aug 2011]
RHOH	chr4	40191053	40246967	+	ENSG00000168421.12	protein_coding	ARHH|TTF	4p14	ras homolog family member H	The protein encoded by this gene is a member of the Ras superfamily of guanosine triphosphate (GTP)-metabolizing enzymes. The encoded protein is expressed in hematopoietic cells, where it functions as a negative regulator of cell growth and survival. This gene may be hypermutated or misexpressed in leukemias and lymphomas. Chromosomal translocations in non-Hodgkins lymphoma occur between this locus and B-cell CLL/lymphoma 6 (BCL6) on chromosome 3, leading to the production of fusion transcripts. Alternative splicing in the 5 untranslated region results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2013]
RHOJ	chr14	63204114	63293219	+	ENSG00000126785.12	protein_coding	ARHJ|RASL7B|TC10B|TCL	14q23.2	ras homolog family member J	This gene encodes one of the many small GTP-binding proteins in the Rho family shown to be associated with focal adhesions in endothelial cells (PMID: 21148427, 22103495). The encoded protein is activated by vascular endothelial growth factor and may regulate angiogenesis. [provided by RefSeq, Dec 2011]
RHOQ	chr2	46541806	46583121	+	ENSG00000119729.11	protein_coding	ARHQ|HEL-S-42|RASL7A|TC10|TC10A	2p21	ras homolog family member Q	This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein is an important signalling protein for sarcomere assembly and has been shown to play a significant role in the exocytosis of the solute carrier family 2, facilitated glucose transporter member 4 and other proteins, possibly acting as the signal that turns on the membrane fusion machinery. Three related pseudogene have been identified on chromosomes 2 and 14. [provided by RefSeq, Aug 2011]
RHOT1	chr17	32142454	32253374	+	ENSG00000126858.16	protein_coding	ARHT1|MIRO-1|MIRO1	17q11.2	ras homolog family member T1	Ubiquitous expression in adrenal (RPKM 9.0), thyroid (RPKM 8.7) and 25 other tissues
RHOT1P1	chr18	14222008	14222331	+	ENSG00000266145.1	processed_pseudogene	RHOT1P|RHOT3	18p11.21	ras homolog family member T1 pseudogene 1	-
RHOT2	chr16	668086	674174	+	ENSG00000140983.13	protein_coding	ARHT2|C16orf39|MIRO-2|MIRO2|RASL	16p13.3	ras homolog family member T2	This gene encodes a member of the Rho family of GTPases. The encoded protein is localized to the outer mitochondrial membrane and plays a role in mitochondrial trafficking and fusion-fission dynamics. [provided by RefSeq, Nov 2011]
RHOU	chr1	228735077	228746669	+	ENSG00000116574.5	protein_coding	ARHU|CDC42L1|G28K|WRCH1|hG28K	1q42.13	ras homolog family member U	This gene encodes a member of the Rho family of GTPases. This protein can activate PAK1 and JNK1, and can induce filopodium formation and stress fiber dissolution. It may also mediate the effects of WNT1 signaling in the regulation of cell morphology, cytoskeletal organization, and cell proliferation. A non-coding transcript variant of this gene results from naturally occurring read-through transcription between this locus and the neighboring DUSP5P (dual specificity phosphatase 5 pseudogene) locus.[provided by RefSeq, Mar 2011]
RHOV	chr15	40872214	40874289	-	ENSG00000104140.6	protein_coding	ARHV|CHP|WRCH2	15q15.1	ras homolog family member V	Biased expression in esophagus (RPKM 34.6), skin (RPKM 27.2) and 5 other tissues
RHPN1	chr8	143368887	143384220	+	ENSG00000158106.13	protein_coding	ODF5|RHOPHILIN|RHPN	8q24.3	rhophilin Rho GTPase binding protein 1	Broad expression in brain (RPKM 2.9), kidney (RPKM 2.5) and 22 other tissues
RHPN1-AS1	chr8	143366631	143368548	-	ENSG00000254389.3	antisense	C8orf51	8q24.3	RHPN1 antisense RNA 1 (head to head)	-
RHPN2	chr19	32978593	33064888	-	ENSG00000131941.7	protein_coding	P76RBE|RHOBP	19q13.11	rhophilin Rho GTPase binding protein 2	This gene encodes a member of the rhophilin family of Ras-homologous (Rho)-GTPase binding proteins. The encoded protein binds both GTP- and GDP-bound RhoA and GTP-bound RhoB and may be involved in the organization of the actin cytoskeleton. [provided by RefSeq, Apr 2009]
RIBC2	chr22	45413691	45432496	+	ENSG00000128408.8	protein_coding	C22orf11|TRIB	22q13.31	RIB43A domain with coiled-coils 2	Biased expression in testis (RPKM 10.0) and bone marrow (RPKM 0.7)
RIC1	chr9	5629025	5776557	+	ENSG00000107036.11	protein_coding	CATIFA|CIP150|KIAA1432|bA207C16.1	9p24.1	RIC1 homolog, RAB6A GEF complex partner 1	Ubiquitous expression in lymph node (RPKM 6.0), testis (RPKM 5.0) and 25 other tissues
RIC3	chr11	8106093	8169055	-	ENSG00000166405.14	protein_coding	AYST720|PRO1385	11p15.4	RIC3 acetylcholine receptor chaperone	This gene encodes a member of the resistance to inhibitors of cholinesterase 3-like family which functions as a chaperone of specific 5-hydroxytryptamine type 3 receptor and nicotinic acetylcholine receptor subtypes. The encoded protein influences the folding and assembly of these receptor subunits in the endoplasmic reticulum and expression on the cell surface. This protein contains an N-terminal transmembrane domain, a proline-rich spacer, and a cytosolic C-terminal coiled-coil domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
RIC8A	chr11	207511	215113	+	ENSG00000177963.14	protein_coding	RIC8	11p15.5	RIC8 guanine nucleotide exchange factor A	Ubiquitous expression in testis (RPKM 20.2), brain (RPKM 15.3) and 25 other tissues
RIC8B	chr12	106774595	106889316	+	ENSG00000111785.19	protein_coding	RIC8|hSyn	12q23.3	RIC8 guanine nucleotide exchange factor B	Ubiquitous expression in thyroid (RPKM 2.6), gall bladder (RPKM 2.0) and 25 other tissues
RICTOR	chr5	38937919	39074408	-	ENSG00000164327.12	protein_coding	AVO3|PIA|hAVO3	5p13.1	RPTOR independent companion of MTOR complex 2	RICTOR and MTOR (FRAP1; MIM 601231) are components of a protein complex that integrates nutrient- and growth factor-derived signals to regulate cell growth (Sarbassov et al., 2004 [PubMed 15268862]).[supplied by OMIM, Mar 2008]
RIDA	chr8	98102344	98117241	-	ENSG00000132541.10	protein_coding	HRSP12|P14.5|PSP|UK114|hp14.5	8q22.2	reactive intermediate imine deaminase A homolog	Biased expression in liver (RPKM 363.6), kidney (RPKM 202.2) and 3 other tissues
RIF1	chr2	151409883	151508013	+	ENSG00000080345.17	protein_coding	-	2q23.3	replication timing regulatory factor 1	Ubiquitous expression in bone marrow (RPKM 5.5), testis (RPKM 5.3) and 25 other tissues
RIIAD1	chr1	151710433	151729805	+	ENSG00000178796.12	protein_coding	C1orf230|NCRNA00166	1q21.3	regulatory subunit of type II PKA R-subunit domain containing 1	Biased expression in testis (RPKM 5.0), brain (RPKM 1.9) and 5 other tissues
RILP	chr17	1646145	1650077	-	ENSG00000167705.11	protein_coding	PP10141	17p13.3	Rab interacting lysosomal protein	This gene encodes a lysosomal protein that interacts with RAB7, a small GTPase that controls transport to endocytic degradative compartments. Studies using mutant forms of the two proteins suggest that this protein represents a downstream effector for RAB7, and both proteins act together in the regulation of late endocytic traffic. A unique region of this protein has also been shown to be involved in the regulation of lysosomal morphology. [provided by RefSeq, Sep 2011]
RILPL1	chr12	123470054	123533718	-	ENSG00000188026.12	protein_coding	GOSPEL|RLP1	12q24.31	Rab interacting lysosomal protein like 1	Broad expression in heart (RPKM 11.5), thyroid (RPKM 5.2) and 23 other tissues
RILPL2	chr12	123410683	123436717	-	ENSG00000150977.10	protein_coding	RLP2	12q24.31	Rab interacting lysosomal protein like 2	This gene encodes a protein that contains a rab-interacting lysosomal protein-like domain. This protein may be involved in regulating lysosome morphology. This protein may also be a target for the Hepatitis C virus and assist in viral replication. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
RIMKLA	chr1	42380795	42422578	+	ENSG00000177181.14	protein_coding	FAM80A|NAAGS|NAAGS-II|NAAGS2	1p34.2	ribosomal modification protein rimK like family member A	Biased expression in brain (RPKM 2.6), colon (RPKM 1.6) and 10 other tissues
RIMKLB	chr12	8681600	8783095	+	ENSG00000166532.15	protein_coding	FAM80B|NAAGS|NAAGS-I	12p13.31	ribosomal modification protein rimK like family member B	Broad expression in endometrium (RPKM 13.9), testis (RPKM 12.3) and 23 other tissues
RIMKLBP2	chr1	219199914	219200567	-	ENSG00000225920.2	processed_pseudogene	-	1q41	ribosomal modification protein rimK like family member B pseudogene 2	-
RIMOC1	chr5	 41904344	41921636	+	ENSG00000205765	protein-coding	C5orf51	5p13.1	RAB7A interacting MON1-CCZ1 complex subunit 1	-
RIMS1	chr6	71886703	72403143	+	ENSG00000079841.18	protein_coding	CORD7|RAB3IP2|RIM|RIM1	6q13	regulating synaptic membrane exocytosis 1	The protein encoded by this gene is a RAS gene superfamily member that regulates synaptic vesicle exocytosis. This gene also plays a role in the regulation of voltage-gated calcium channels during neurotransmitter and insulin release. Mutations have suggested a role cognition and have been identified as the cause of cone-rod dystrophy type 7. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2012]
RIMS2	chr8	103500748	104256094	+	ENSG00000176406.22	protein_coding	CRSDS|OBOE|RAB3IP3|RIM2	8q22.3	regulating synaptic membrane exocytosis 2	The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]
RIMS3	chr1	40620679	40665657	-	ENSG00000117016.9	protein_coding	NIM3|RIM 3|RIM3	1p34.2	regulating synaptic membrane exocytosis 3	Biased expression in brain (RPKM 26.0), adrenal (RPKM 4.0) and 9 other tissues
RIMS4	chr20	44751808	44810338	-	ENSG00000101098.12	protein_coding	C20orf190|RIM 4|RIM-4|RIM4|RIM4-gamma|RIM4gamma	20q13.12	regulating synaptic membrane exocytosis 4	Biased expression in brain (RPKM 10.7), testis (RPKM 10.4) and 8 other tissues
RIN1	chr11	66330242	66336840	-	ENSG00000174791.10	protein_coding	-	11q13.2	Ras and Rab interactor 1	-
RIN2	chr20	19886521	20002457	+	ENSG00000132669.12	protein_coding	MACS|RASSF4	20p11.23	Ras and Rab interactor 2	The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]
RIN3	chr14	92513774	92688994	+	ENSG00000100599.15	protein_coding	-	14q32.12	Ras and Rab interactor 3	Broad expression in bone marrow (RPKM 13.0), spleen (RPKM 13.0) and 24 other tissues
RING1	chr6	33208495	33212722	+	ENSG00000204227.4	protein_coding	RING1A|RNF1	6p21.32	ring finger protein 1	This gene belongs to the RING finger family, members of which encode proteins characterized by a RING domain, a zinc-binding motif related to the zinc finger domain. The gene product can bind DNA and can act as a transcriptional repressor. It is associated with the multimeric polycomb group protein complex. The gene product interacts with the polycomb group proteins BMI1, EDR1, and CBX4, and colocalizes with these proteins in large nuclear domains. It interacts with the CBX4 protein via its glycine-rich C-terminal domain. The gene maps to the HLA class II region, where it is contiguous with the RING finger genes FABGL and HKE4. [provided by RefSeq, Jul 2008]
RINL	chr19	38867834	38878279	-	ENSG00000187994.13	protein_coding	-	19q13.2	Ras and Rab interactor like	-
RINT1	chr7	105532085	105567677	+	ENSG00000135249.7	protein_coding	ILFS3|RINT-1	7q22.3	RAD50 interactor 1	This gene encodes a protein first identified for its ability to interact with the RAD50 double strand break repair protein, with the resulting interaction implicated in the regulation of cell cycle progression and telomere length. The encoded protein may also play a role in trafficking of cellular cargo from the endosome to the trans-Golgi network. Mutations in this gene may be associated with breast cancer in human patients. [provided by RefSeq, Oct 2016]
RIOK1	chr6	7389496	7418037	+	ENSG00000124784.8	protein_coding	AD034|RIO1|RRP10|bA288G3.1	6p24.3	RIO kinase 1	The protein encoded by this gene competes with pICln for inclusion in the protein arginine methyltransferase 5 complex. This complex targets substrates for dimethylation. The encoded protein is essential for the last steps in the maturation of 40S subunits. [provided by RefSeq, Jan 2017]
RIOK2	chr5	97160867	97183260	-	ENSG00000058729.10	protein_coding	RIO2	5q15	RIO kinase 2	Ubiquitous expression in thyroid (RPKM 5.0), ovary (RPKM 4.8) and 25 other tissues
RIOK3	chr18	23452823	23486603	+	ENSG00000101782.14	protein_coding	SUDD	18q11.2	RIO kinase 3	This gene was first identified by the similarity of its product to the Aspergillus nidulans SUDD protein. This gene is now recognized as a member of the right open reading frame (RIO) kinase gene family. This gene encodes a serine/threonine kinase that localizes to the cytoplasm and plays a role in the processing of the pre-40 S ribosomal subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017]
RIOX1	chr14	73490964	73493392	+	ENSG00000170468.7	protein_coding	C14orf169|JMJD9|MAPJD|NO66|ROX|URLC2|hsNO66	14q24.3	ribosomal oxygenase 1	Predicted to enable histone H3-methyl-lysine-36 demethylase activity; histone H3-methyl-lysine-4 demethylase activity; and iron ion binding activity. Predicted to be involved in histone lysine demethylation; negative regulation of osteoblast differentiation; and negative regulation of transcription, DNA-templated. Located in nucleolus. [provided by Alliance of Genome Resources, Apr 2022]
RIOX2	chr3	97941818	97972457	-	ENSG00000170854.17	protein_coding	JMJD10|MDIG|MINA|MINA53|NO52|ROX	3q11.2	ribosomal oxygenase 2	MINA is a c-Myc (MYC; MIM 190080) target gene that may play a role in cell proliferation or regulation of cell growth. (Tsuneoka et al., 2002 [PubMed 12091391]; Zhang et al., 2005 [PubMed 15897898]).[supplied by OMIM, May 2008]
RIPK1	chr6	3063991	3115187	+	ENSG00000137275.13	protein_coding	AIEFL|IMD57|RIP|RIP-1|RIP1	6p25.2	receptor interacting serine/threonine kinase 1	This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein plays a role in inflammation and cell death in response to tissue damage, pathogen recognition, and as part of developmental regulation. RIPK1/RIPK3 kinase-mediated necrosis is referred to as necroptosis. Genetic disruption of this gene in mice results in death shortly after birth. [provided by RefSeq, Aug 2017]
RIPK2	chr8	89757747	89791063	+	ENSG00000104312.7	protein_coding	CARD3|CARDIAK|CCK|GIG30|RICK|RIP2	8q21.3	receptor interacting serine/threonine kinase 2	This gene encodes a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases. The encoded protein contains a C-terminal caspase activation and recruitment domain (CARD), and is a component of signaling complexes in both the innate and adaptive immune pathways. It is a potent activator of NF-kappaB and inducer of apoptosis in response to various stimuli. [provided by RefSeq, Jul 2008]
RIPK3	chr14	24336021	24340045	-	ENSG00000129465.15	protein_coding	RIP3	14q12	receptor interacting serine/threonine kinase 3	The product of this gene is a member of the receptor-interacting protein (RIP) family of serine/threonine protein kinases, and contains a C-terminal domain unique from other RIP family members. The encoded protein is predominantly localized to the cytoplasm, and can undergo nucleocytoplasmic shuttling dependent on novel nuclear localization and export signals. It is a component of the tumor necrosis factor (TNF) receptor-I signaling complex, and can induce apoptosis and weakly activate the NF-kappaB transcription factor. [provided by RefSeq, Jul 2008]
RIPK4	chr21	41739369	41767106	-	ENSG00000183421.11	protein_coding	ANKK2|ANKRD3|CHANDS|DIK|NKRD3|PKK|PPS2|RIP4	21q22.3	receptor interacting serine/threonine kinase 4	The protein encoded by this gene is a serine/threonine protein kinase that interacts with protein kinase C-delta. The encoded protein can also activate NFkappaB and is required for keratinocyte differentiation. This kinase undergoes autophosphorylation. [provided by RefSeq, Jul 2008]
RIPOR1	chr16	 67518369	67546786	+	ENSG00000039523	protein-coding	FAM65A	16q22.1	RHO family interacting cell polarization regulator 1	Ubiquitous expression in spleen (RPKM 22.0), lung (RPKM 16.7) and 25 other tissues
RIPOR2	chr6	 24804284	25042168	-	ENSG00000111913	protein-coding	C6orf32|DFNB104|DIFF40|DIFF48|FAM65B|MYONAP|PL48	6p22.3	RHO family interacting cell polarization regulator 2	This gene encodes an atypical inhibitor of the small G protein RhoA. Inhibition of RhoA activity by the encoded protein mediates myoblast fusion and polarization of T cells and neutrophils. The encoded protein is a component of hair cell stereocilia that is essential for hearing. A splice site mutation in this gene results in hearing loss in human patients. [provided by RefSeq, Sep 2016]
RIPOR3	chr20	 50586108	50691542	-	ENSG00000042062	protein-coding	C20orf175|C20orf176|FAM65C	20q13.13	RIPOR family member 3	Broad expression in bone marrow (RPKM 7.7), kidney (RPKM 6.8) and 22 other tissues
RIPPLY2	chr6	83853266	83857515	+	ENSG00000203877.8	protein_coding	C6orf159|SCDO6|dJ237I15.1	6q14.2	ripply transcriptional repressor 2	This gene encodes a nuclear protein that belongs to a novel family of proteins required for vertebrate somitogenesis. Members of this family have a tetrapeptide WRPW motif that is required for interaction with the transcriptional repressor Groucho and a carboxy-terminal Ripply homology domain/Bowline-DSCR-Ledgerline conserved region required for transcriptional repression. Null mutant mice die soon after birth and display defects in axial skeleton segmentation due to defective somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
RIT1	chr1	155897808	155911404	-	ENSG00000143622.10	protein_coding	NS8|RIBB|RIT|ROC1	1q22	Ras like without CAAX 1	This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
RIT2	chr18	42743227	43115691	-	ENSG00000152214.12	protein_coding	RIBA|RIN|ROC2	18q12.3	Ras like without CAAX 2	RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM, Mar 2008]
RITA1	chr12	113185526	113192368	+	ENSG00000139405.15	protein_coding	C12orf52|RITA	12q24.13	RBPJ interacting and tubulin associated 1	Note: RITA1 (Gene ID: 84934) and ZNF331 (Gene ID: 55422) share the RITA alias in common. RITA (Rearranged in Thyroid Adenomas) is a widely used alternative name for zinc finger protein 33 (ZNF331), which can be confused with the RITA alias used for RITA1, RBPJ-interacting and tubulin-associated protein 1 (RITA1). [22 Oct 2020]
RLBP1	chr15	89209869	89221751	-	ENSG00000140522.11	protein_coding	CRALBP	15q26.1	retinaldehyde binding protein 1	The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq, Jul 2008]
RLF	chr1	40161373	40240921	+	ENSG00000117000.8	protein_coding	ZN-15L|ZNF292L	1p34.2	RLF zinc finger	Ubiquitous expression in bone marrow (RPKM 13.7), testis (RPKM 7.9) and 25 other tissues
RLIM	chrX	74585217	74614617	-	ENSG00000131263.12	protein_coding	MRX61|NY-REN-43|RNF12|TOKAS	Xq13.2	ring finger protein, LIM domain interacting	The protein encoded by this gene is a RING-H2 zinc finger protein. It has been shown to be an E3 ubiquitin protein ligase that targets LIM domain binding 1 (LDB1/CLIM), and causes proteasome-dependent degradation of LDB1. This protein and LDB1 are co-repressors of LHX1/LIM-1, a homeodomain transcription factor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]
RLIMP1	chr13	40618738	40621348	+	ENSG00000229456.1	processed_pseudogene	-	13q14.11	ring finger protein, LIM domain interacting pseudogene 1	-
RLN1	chr9	5334969	5339873	-	ENSG00000107018.7	protein_coding	H1|H1RLX|RLXH1|bA12D24.3.1|bA12D24.3.2	9p24.1	relaxin 1	Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In humans there are three non-allelic relaxin genes, RLN1, RLN2 and RLN3, where RLN1 and RLN2 share high sequence homology. The protein encoded by this gene is synthesized as a single-chain polypeptide but the active form consists of an A chain and a B chain linked by disulfide bonds. Relaxin is produced by the ovary, and targets the mammalian reproductive system to ripen the cervix, elongate the pubic symphysis and inhibit uterine contraction. It may have additional roles in enhancing sperm motility, regulating blood pressure, controlling heart rate and releasing oxytocin and vasopressin. [provided by RefSeq, Jan 2013]
RMC1	chr18	 23503470	23531822	+	ENSG00000141452	protein-coding	C18orf8|HsT2591|MIC1|Mic-1|WDR98	18q11.2	regulator of MON1-CCZ1	This gene encodes a colon cancer associated protein. [provided by RefSeq, Jan 2013]
RMDN1	chr8	86468257	86514357	-	ENSG00000176623.11	protein_coding	CGI-90|FAM82B|RMD-1|RMD1	8q21.3	regulator of microtubule dynamics 1	Ubiquitous expression in thyroid (RPKM 10.5), fat (RPKM 10.4) and 25 other tissues
RMDN2	chr2	37923187	38067142	+	ENSG00000115841.19	protein_coding	BLOCK18|FAM82A|FAM82A1|PRO34163|PYST9371|RMD-2|RMD2|RMD4	2p22.2	regulator of microtubule dynamics 2	Broad expression in adrenal (RPKM 5.4), spleen (RPKM 2.9) and 22 other tissues
RMDN2-AS1	chr2	37949911	38067041	-	ENSG00000235848.4	antisense	-	2p22.2	RMDN2 antisense RNA 1	-
RMDN3	chr15	40735884	40755851	-	ENSG00000137824.15	protein_coding	FAM82A2|FAM82C|RMD-3|RMD3|ptpip51	15q15.1	regulator of microtubule dynamics 3	Ubiquitous expression in small intestine (RPKM 16.9), lung (RPKM 14.6) and 25 other tissues
RMI1	chr9	83980711	84004074	+	ENSG00000178966.16	protein_coding	BLAP75|C9orf76|FAAP75	9q21.32	RecQ mediated genome instability 1	RMI1 is a component of protein complexes that limit DNA crossover formation via the dissolution of double Holliday junctions (Raynard et al., 2006 [PubMed 16595695]).[supplied by OMIM, Mar 2008]
RMI2	chr16	11249619	11351762	+	ENSG00000175643.8	protein_coding	BLAP18|C16orf75	16p13.13	RecQ mediated genome instability 2	RMI2 is a component of the BLM (RECQL3; MIM 604610) complex, which plays a role in homologous recombination-dependent DNA repair and is essential for genome stability (Xu et al., 2008 [PubMed 18923082]).[supplied by OMIM, Nov 2008]
RMND1	chr6	151404763	151452181	-	ENSG00000155906.16	protein_coding	C6orf96|COXPD11|RMD1|bA351K16|bA351K16.3	6q25.1	required for meiotic nuclear division 1 homolog	The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
RMND5A	chr2	86720173	86778041	+	ENSG00000153561.12	protein_coding	CTLH|GID2|GID2A|RMD5|p44CTLH	2p11.2	required for meiotic nuclear division 5 homolog A	Ubiquitous expression in esophagus (RPKM 17.5), heart (RPKM 16.4) and 25 other tissues
RMND5B	chr5	178130996	178150565	+	ENSG00000145916.18	protein_coding	GID2|GID2B	5q35.3	required for meiotic nuclear division 5 homolog B	Broad expression in testis (RPKM 28.7), esophagus (RPKM 18.0) and 25 other tissues
RMST	chr12	97430884	97598415	+	ENSG00000255794.7	processed_transcript	LINC00054|NCRMS|NCRNA00054	12q23.1|12q21	rhabdomyosarcoma 2 associated transcript	This gene produces a long non-coding RNA that functions in neurogenesis by aiding in the association of Sox2 transcription factor to its target promoters. [provided by RefSeq, Dec 2017]
RN7SKP114	chr9	34049966	34050244	+	ENSG00000222259.1	misc_RNA	-	9p13.3	RN7SK pseudogene 114	-
RN7SKP116	chr6	47715283	47715601	+	ENSG00000252711.1	misc_RNA	-	6p12.3	RN7SK pseudogene 116	-
RN7SKP127	chr16	29731051	29731404	-	ENSG00000222375.1	misc_RNA	-	16p11.2	RN7SK pseudogene 127	-
RN7SKP150	chr5	179845832	179846152	+	ENSG00000222448.1	misc_RNA	-	5q35.3	RN7SK pseudogene 150	-
RN7SKP151	chr11	13353208	13353523	+	ENSG00000222162.1	misc_RNA	-	11p15.3	RN7SK pseudogene 151	-
RN7SKP158	chr11	28261194	28261519	-	ENSG00000222385.1	misc_RNA	-	11p14.1	RN7SK pseudogene 158	-
RN7SKP16	chr1	33336566	33336864	-	ENSG00000222112.1	misc_RNA	-	1p35.1	RN7SK pseudogene 16	-
RN7SKP173	chr20	38761528	38761842	+	ENSG00000199691.1	misc_RNA	-	20q11.23	RN7SK pseudogene 173	-
RN7SKP208	chr2	55951654	55952014	-	ENSG00000202344.1	misc_RNA	-	2p16.1	RN7SK pseudogene 208	-
RN7SKP209	chr6	87083233	87083536	+	ENSG00000252697.1	misc_RNA	-	6q14.3	RN7SK pseudogene 209	-
RN7SKP225	chr9	99284022	99284373	+	ENSG00000222337.1	misc_RNA	-	9q22.33	RN7SK pseudogene 225	-
RN7SKP230	chr5	109699500	109699834	-	ENSG00000202512.1	misc_RNA	-	5q21.3	RN7SK pseudogene 230	-
RN7SKP237	chr4	139685127	139685427	-	ENSG00000201533.1	misc_RNA	-	4q31.1	RN7SK pseudogene 237	-
RN7SKP239	chr11	67362414	67362708	+	ENSG00000201684.1	misc_RNA	-	11q13.2	RN7SK pseudogene 239	-
RN7SKP240	chr6	22085544	22085918	+	ENSG00000222515.1	misc_RNA	-	6p22.3	RN7SK pseudogene 240	-
RN7SKP271	chr20	35643143	35643462	+	ENSG00000222460.1	misc_RNA	-	20q11.22	RN7SK pseudogene 271	-
RN7SKP287	chr11	43435132	43435397	-	ENSG00000252355.1	misc_RNA	-	11p11.2	RN7SK pseudogene 287	-
RN7SKP30	chr4	55540502	55540835	-	ENSG00000223305.1	misc_RNA	-	4q12	RN7SK pseudogene 30	-
RN7SKP38	chr2	218500729	218501037	-	ENSG00000222714.1	misc_RNA	-	2q35	RN7SK pseudogene 38	-
RN7SKP68	chr5	102302504	102302810	+	ENSG00000222987.1	misc_RNA	-	5q21.1	RN7SK pseudogene 68	-
RN7SKP80	chr22	42565048	42565330	-	ENSG00000202058.1	misc_RNA	-	22q13.2	RN7SK pseudogene 80	-
RN7SL113P	chr2	85368282	85368580	+	ENSG00000278590.1	misc_RNA	-	2p11.2	RNA, 7SL, cytoplasmic 113, pseudogene	-
RN7SL124P	chr2	151372003	151372287	+	ENSG00000242113.3	misc_RNA	-	2q23.3	RNA, 7SL, cytoplasmic 124, pseudogene	-
RN7SL130P	chr1	63655743	63656047	+	ENSG00000244256.3	misc_RNA	-	1p31.3	RNA, 7SL, cytoplasmic 130, pseudogene	-
RN7SL138P	chr17	30959564	30959850	+	ENSG00000266274.2	misc_RNA	-	17q11.2	RNA, 7SL, cytoplasmic 138, pseudogene	-
RN7SL160P	chr2	70965584	70965867	+	ENSG00000241159.3	misc_RNA	-	2p13.3	RNA, 7SL, cytoplasmic 160, pseudogene	-
RN7SL165P	chr1	26814822	26815112	+	ENSG00000241188.3	misc_RNA	-	1p36.11	RNA, 7SL, cytoplasmic 165, pseudogene	-
RN7SL172P	chr3	121653994	121654296	-	ENSG00000243544.3	misc_RNA	-	3q13.33	RNA, 7SL, cytoplasmic 172, pseudogene	-
RN7SL182P	chr3	49083233	49083532	+	ENSG00000241461.3	misc_RNA	-	3p21.31	RNA, 7SL, cytoplasmic 182, pseudogene	-
RN7SL186P	chr1	22010650	22010946	+	ENSG00000278124.1	misc_RNA	-	1p36.12	RNA, 7SL, cytoplasmic 186, pseudogene	-
RN7SL199P	chr17	46537534	46537814	+	ENSG00000265315.1	misc_RNA	-	17q21.31	RNA, 7SL, cytoplasmic 199, pseudogene	-
RN7SL200P	chr6	34685355	34685642	-	ENSG00000265123.2	misc_RNA	-	6p21.31	RNA, 7SL, cytoplasmic 200, pseudogene	-
RN7SL213P	chr14	67751228	67751544	-	ENSG00000239820.3	misc_RNA	-	14q24.1	RNA, 7SL, cytoplasmic 213, pseudogene	-
RN7SL233P	chr18	21793883	21794159	+	ENSG00000242971.3	misc_RNA	-	18q11.2	RNA, 7SL, cytoplasmic 233, pseudogene	-
RN7SL236P	chr17	78370852	78371135	-	ENSG00000243870.3	misc_RNA	-	17q25.3	RNA, 7SL, cytoplasmic 236, pseudogene	-
RN7SL239P	chr11	74845910	74846209	+	ENSG00000242999.3	misc_RNA	-	11q13.4	RNA, 7SL, cytoplasmic 239, pseudogene	-
RN7SL23P	chr11	61444149	61444423	+	ENSG00000240823.3	misc_RNA	-	11q12.2	RNA, 7SL, cytoplasmic 23, pseudogene	-
RN7SL251P	chr2	85442495	85442791	+	ENSG00000244399.3	misc_RNA	-	2p11.2	RNA, 7SL, cytoplasmic 251, pseudogene	-
RN7SL268P	chr22	23879493	23879790	-	ENSG00000244425.3	misc_RNA	-	22q11.23	RNA, 7SL, cytoplasmic 268, pseudogene	-
RN7SL270P	chr17	47041825	47042105	+	ENSG00000277198.1	misc_RNA	-	17q21.32	RNA, 7SL, cytoplasmic 270, pseudogene	-
RN7SL30P	chr9	125512902	125513207	-	ENSG00000243845.3	misc_RNA	-	9q33.3	RNA, 7SL, cytoplasmic 30, pseudogene	-
RN7SL316P	chr17	30702504	30702775	-	ENSG00000241631.3	misc_RNA	-	17q11.2	RNA, 7SL, cytoplasmic 316, pseudogene	-
RN7SL328P	chr9	131725168	131725467	-	ENSG00000240853.3	misc_RNA	-	9q34.13	RNA, 7SL, cytoplasmic 328, pseudogene	-
RN7SL32P	chr2	233205199	233205479	+	ENSG00000263941.2	misc_RNA	-	2q37.1	RNA, 7SL, cytoplasmic 32, pseudogene	-
RN7SL331P	chr15	84205454	84205700	-	ENSG00000278422.1	misc_RNA	-	15q25.2	RNA, 7SL, cytoplasmic 331, pseudogene	-
RN7SL333P	chr1	169859756	169860052	+	ENSG00000239494.2	misc_RNA	-	1q24.2	RNA, 7SL, cytoplasmic 333, pseudogene	-
RN7SL336P	chr6	89090946	89091242	+	ENSG00000264017.2	misc_RNA	-	6q15	RNA, 7SL, cytoplasmic 336, pseudogene	-
RN7SL351P	chr11	126245035	126245282	+	ENSG00000240098.3	misc_RNA	-	11q24.2	RNA, 7SL, cytoplasmic 351, pseudogene	-
RN7SL364P	chr19	46688797	46689068	-	ENSG00000243560.3	misc_RNA	-	19q13.32	RNA, 7SL, cytoplasmic 364, pseudogene	-
RN7SL377P	chr7	72822894	72823171	-	ENSG00000266569.2	misc_RNA	-	7q11.23	RNA, 7SL, cytoplasmic 377, pseudogene	-
RN7SL381P	chr16	85659378	85659675	+	ENSG00000263968.2	misc_RNA	-	16q24.1	RNA, 7SL, cytoplasmic 381, pseudogene	-
RN7SL386P	chr1	21987481	21987777	+	ENSG00000273610.1	misc_RNA	-	1p36.12	RNA, 7SL, cytoplasmic 386, pseudogene	-
RN7SL399P	chr17	41730127	41730405	-	ENSG00000239542.3	misc_RNA	-	17q21.2	RNA, 7SL, cytoplasmic 399, pseudogene	-
RN7SL403P	chr6	43036196	43036500	-	ENSG00000240625.3	misc_RNA	-	6p21.1	RNA, 7SL, cytoplasmic 403, pseudogene	-
RN7SL404P	chr17	64871504	64871784	-	ENSG00000264840.1	misc_RNA	-	17q24.1	RNA, 7SL, cytoplasmic 404, pseudogene	-
RN7SL40P	chr2	202357076	202357417	-	ENSG00000242696.3	misc_RNA	-	2q33.1	RNA, 7SL, cytoplasmic 40, pseudogene	-
RN7SL417P	chr15	84394072	84394336	+	ENSG00000244056.3	misc_RNA	-	15q25.2	RNA, 7SL, cytoplasmic 417, pseudogene	-
RN7SL426P	chr17	21229334	21229628	-	ENSG00000263815.2	misc_RNA	-	17p11.2	RNA, 7SL, cytoplasmic 426, pseudogene	-
RN7SL431P	chr1	154166245	154166549	-	ENSG00000264384.2	misc_RNA	-	1q21.3	RNA, 7SL, cytoplasmic 431, pseudogene	-
RN7SL441P	chr12	109866214	109866509	-	ENSG00000241413.3	misc_RNA	-	12q24.11	RNA, 7SL, cytoplasmic 441, pseudogene	-
RN7SL444P	chr1	151300665	151300964	-	ENSG00000265753.2	misc_RNA	-	1q21.3	RNA, 7SL, cytoplasmic 444, pseudogene	-
RN7SL473P	chr1	150566562	150566860	-	ENSG00000277452.1	misc_RNA	-	1q21.2	RNA, 7SL, cytoplasmic 473, pseudogene	-
RN7SL487P	chr15	43391384	43391727	-	ENSG00000243871.3	misc_RNA	-	15q15.3	RNA, 7SL, cytoplasmic 487, pseudogene	-
RN7SL521P	chr7	149125690	149125986	-	ENSG00000240877.3	misc_RNA	-	7q36.1	RNA, 7SL, cytoplasmic 521, pseudogene	-
RN7SL541P	chr5	134517810	134518092	+	ENSG00000240250.3	misc_RNA	-	5q31.1	RNA, 7SL, cytoplasmic 541, pseudogene	-
RN7SL559P	chr1	28031884	28032180	-	ENSG00000240750.3	misc_RNA	-	1p35.3	RNA, 7SL, cytoplasmic 559, pseudogene	-
RN7SL573P	chr17	75041740	75042015	+	ENSG00000239607.3	misc_RNA	-	17q25.1	RNA, 7SL, cytoplasmic 573, pseudogene	-
RN7SL574P	chr1	3782815	3783111	+	ENSG00000266075.2	misc_RNA	-	1p36.32	RNA, 7SL, cytoplasmic 574, pseudogene	-
RN7SL604P	chr2	69516751	69517046	+	ENSG00000244236.3	misc_RNA	-	2p13.3	RNA, 7SL, cytoplasmic 604, pseudogene	-
RN7SL608P	chr17	2680958	2681236	+	ENSG00000239884.3	misc_RNA	-	17p13.3	RNA, 7SL, cytoplasmic 608, pseudogene	-
RN7SL614P	chr1	10616836	10617115	+	ENSG00000243267.3	misc_RNA	-	1p36.22	RNA, 7SL, cytoplasmic 614, pseudogene	-
RN7SL625P	chr7	72841437	72841727	-	ENSG00000274656.1	misc_RNA	-	7q11.23	RNA, 7SL, cytoplasmic 625, pseudogene	-
RN7SL629P	chr5	87294189	87294473	-	ENSG00000241243.3	misc_RNA	-	5q14.3	RNA, 7SL, cytoplasmic 629, pseudogene	-
RN7SL653P	chr1	91829774	91830066	-	ENSG00000239794.3	misc_RNA	-	1p22.1	RNA, 7SL, cytoplasmic 653, pseudogene	-
RN7SL656P	chr17	46319679	46319959	+	ENSG00000265411.1	misc_RNA	-	17q21.31	RNA, 7SL, cytoplasmic 656, pseudogene	-
RN7SL689P	chr5	123022487	123022783	-	ENSG00000263432.2	misc_RNA	-	5q23.2	RNA, 7SL, cytoplasmic 689, pseudogene	-
RN7SL693P	chr19	58490797	58491075	+	ENSG00000265272.2	misc_RNA	-	19q13.43	RNA, 7SL, cytoplasmic 693, pseudogene	-
RN7SL704P	chr22	38231720	38231993	+	ENSG00000241693.2	misc_RNA	-	22q13.1	RNA, 7SL, cytoplasmic 704, pseudogene	-
RN7SL717P	chr2	199901081	199901377	-	ENSG00000240302.3	misc_RNA	-	2q33.1	RNA, 7SL, cytoplasmic 717, pseudogene	-
RN7SL738P	chr3	196399911	196400207	+	ENSG00000243339.3	misc_RNA	-	3q29	RNA, 7SL, cytoplasmic 738, pseudogene	-
RN7SL740P	chr21	33918995	33919338	-	ENSG00000244294.3	misc_RNA	-	21q22.11	RNA, 7SL, cytoplasmic 740, pseudogene	-
RN7SL748P	chr6	36522191	36522501	+	ENSG00000239964.3	misc_RNA	-	6p21.31	RNA, 7SL, cytoplasmic 748, pseudogene	-
RN7SL749P	chr10	119212857	119213146	+	ENSG00000242853.3	misc_RNA	-	10q26.11	RNA, 7SL, cytoplasmic 749, pseudogene	-
RN7SL752P	chr3	129591349	129591635	+	ENSG00000239437.3	misc_RNA	-	3q22.1	RNA, 7SL, cytoplasmic 752, pseudogene	-
RN7SL753P	chr2	202333439	202333728	+	ENSG00000264275.1	misc_RNA	-	2q33.1	RNA, 7SL, cytoplasmic 753, pseudogene	-
RN7SL756P	chr17	67457023	67457290	-	ENSG00000244610.3	misc_RNA	-	17q24.2	RNA, 7SL, cytoplasmic 756, pseudogene	-
RN7SL764P	chr2	219102434	219102719	+	ENSG00000240317.3	misc_RNA	-	2q35	RNA, 7SL, cytoplasmic 764, pseudogene	-
RN7SL793P	chr12	102217318	102217613	-	ENSG00000264554.2	misc_RNA	-	12q23.2	RNA, 7SL, cytoplasmic 793, pseudogene	-
RN7SL798P	chr8	55980240	55980540	-	ENSG00000240905.3	misc_RNA	-	8q12.1	RNA, 7SL, cytoplasmic 798, pseudogene	-
RN7SL800P	chr17	62005737	62006016	-	ENSG00000242398.3	misc_RNA	-	17q23.2	RNA, 7SL, cytoplasmic 800, pseudogene	-
RN7SL809P	chr12	56670450	56670746	-	ENSG00000241217.3	misc_RNA	-	12q13.3	RNA, 7SL, cytoplasmic 809, pseudogene	-
RN7SL81P	chr7	128761338	128761598	+	ENSG00000244218.3	misc_RNA	-	7q32.1	RNA, 7SL, cytoplasmic 81, pseudogene	-
RN7SL82P	chr15	30800160	30800396	+	ENSG00000278696.1	misc_RNA	-	15q13.2	RNA, 7SL, cytoplasmic 82, pseudogene	-
RN7SL838P	chr11	440399	440693	-	ENSG00000243562.3	misc_RNA	-	11p15.5	RNA, 7SL, cytoplasmic 838, pseudogene	-
RN7SL856P	chr2	25058032	25058329	+	ENSG00000276653.1	misc_RNA	-	2p23.3	RNA, 7SL, cytoplasmic 856, pseudogene	-
RN7SL89P	chr4	105293664	105293946	+	ENSG00000243383.3	misc_RNA	-	4q24	RNA, 7SL, cytoplasmic 89, pseudogene	-
RN7SL98P	chr9	15525782	15526081	-	ENSG00000240613.3	misc_RNA	-	9p22.3	RNA, 7SL, cytoplasmic 98, pseudogene	-
RNA28S5	chr22	-	-	-	-	rRNA	RN28S1	22p12	RNA, 28S ribosomal 5	-
RNA5SP123	chr3	12511095	12511213	-	ENSG00000200114.1	rRNA	RN5S123	3p25.2	RNA, 5S ribosomal pseudogene 123	-
RNA5SP129	chr3	37341649	37341766	+	ENSG00000222208.1	rRNA	RN5S129	3p22.2	RNA, 5S ribosomal pseudogene 129	-
RNA5SP21	chr1	77779904	77779999	+	ENSG00000222849.1	rRNA	RN5S21	1p31.1	RNA, 5S ribosomal pseudogene 21	-
RNA5SP210	chr6	81622200	81622319	+	ENSG00000212336.1	rRNA	RN5S210	6q14.1	RNA, 5S ribosomal pseudogene 210	-
RNA5SP216	chr6	125979812	125979934	-	ENSG00000251920.1	rRNA	RN5S216	6q22.32	RNA, 5S ribosomal pseudogene 216	-
RNA5SP247	chr7	140370441	140370545	+	ENSG00000223113.1	rRNA	RN5S247	7q34	RNA, 5S ribosomal pseudogene 247	-
RNA5SP268	chr8	67099302	67099425	+	ENSG00000252637.1	rRNA	RN5S268	8q13.1	RNA, 5S ribosomal pseudogene 268	-
RNA5SP294	chr9	111411644	111411742	-	ENSG00000223238.1	rRNA	RN5S294	9q31.3	RNA, 5S ribosomal pseudogene 294	-
RNA5SP333	chr11	18248389	18248506	-	ENSG00000200336.1	rRNA	RN5S333	11p15.1	RNA, 5S ribosomal pseudogene 333	-
RNA5SP368	chr12	101779814	101779929	+	ENSG00000201168.1	rRNA	RN5S368	12q23.2	RNA, 5S ribosomal pseudogene 368	-
RNA5SP383	chr14	24158603	24158722	+	ENSG00000199804.1	rRNA	RN5S383	14q12	RNA, 5S ribosomal pseudogene 383	-
RNA5SP39	chr13	108301212	108301331	-	ENSG00000223177.1	rRNA	RN5S39	13q33.3	RNA, 5S ribosomal pseudogene 39	-
RNA5SP393	chr15	41851913	41852029	-	ENSG00000200293.1	rRNA	RN5S393	15q15.1	RNA, 5S ribosomal pseudogene 393	-
RNA5SP439	chr17	36491199	36491322	-	ENSG00000274164.1	rRNA	RN5S439	17q12	RNA, 5S ribosomal pseudogene 439	-
RNA5SP464	chr19	11996809	11996916	+	ENSG00000252060.1	rRNA	RN5S464	19p13.2	RNA, 5S ribosomal pseudogene 464	-
RNA5SP493	chr22	21792434	21792524	+	ENSG00000200985.1	rRNA	RN5S493	22q11.22	RNA, 5S ribosomal pseudogene 493	-
RNASE1	chr14	20801228	20803278	-	ENSG00000129538.13	protein_coding	RAC1|RIB1|RNS1	14q11.2	ribonuclease A family member 1, pancreatic	This gene encodes a member of the pancreatic-type of secretory ribonucleases, a subset of the ribonuclease A superfamily. The encoded endonuclease cleaves internal phosphodiester RNA bonds on the 3-side of pyrimidine bases. It prefers poly(C) as a substrate and hydrolyzes 2,3-cyclic nucleotides, with a pH optimum near 8.0. The encoded protein is monomeric and more commonly acts to degrade ds-RNA over ss-RNA. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
RNASE10	chr14	20505537	20511169	+	ENSG00000182545.6	protein_coding	RAH1|RNASE9	14q11.2	ribonuclease A family member 10 (inactive)	-
RNASE2	chr14	20955452	20956436	+	ENSG00000169385.2	protein_coding	EDN|RAF3|RNS2	14q11.2	ribonuclease A family member 2	The protein encoded by this gene is a non-secretory ribonuclease that belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein antimicrobial activity against viruses. [provided by RefSeq, Oct 2014]
RNASE3	chr14	20891399	20892348	+	ENSG00000169397.3	protein_coding	ECP|RAF1|RNS3	14q11.2	ribonuclease A family member 3	The protein encoded by this gene belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein exhibits antimicrobial activity against pathogenic bacteria [provided by RefSeq, Oct 2014]
RNASE4	chr14	20684100	20701215	+	ENSG00000258818.3	protein_coding	RAB1|RNS4	14q11.2	ribonuclease A family member 4	The protein encoded by this gene belongs to the pancreatic ribonuclease family. It plays an important role in mRNA cleavage and has marked specificity towards the 3 side of uridine nucleotides. Alternative splicing results in four transcript variants encoding the same protein. This gene and the gene that encodes angiogenin share promoters and 5 exons. Each gene splices to a unique downstream exon that contains its complete coding region. [provided by RefSeq, Aug 2013]
RNASE6	chr14	20781051	20782467	+	ENSG00000169413.2	protein_coding	RAD1|RNS6|RNasek6	14q11.2	ribonuclease A family member k6	The protein encoded by this gene is a member of the ribonuclease A superfamily and functions in the urinary tract. The protein has broad-spectrum antimicrobial activity against pathogenic bacteria. [provided by RefSeq, Nov 2014]
RNASEH2A	chr19	12802063	12813638	+	ENSG00000104889.5	protein_coding	AGS4|JUNB|RNASEHI|RNHIA|RNHL|THSD8	19p13.13	ribonuclease H2 subunit A	The protein encoded by this gene is a component of the heterotrimeric type II ribonuclease H enzyme (RNAseH2). RNAseH2 is the major source of ribonuclease H activity in mammalian cells and endonucleolytically cleaves ribonucleotides. It is predicted to remove Okazaki fragment RNA primers during lagging strand DNA synthesis and to excise single ribonucleotides from DNA-DNA duplexes. Mutations in this gene cause Aicardi-Goutieres Syndrome (AGS), a an autosomal recessive neurological disorder characterized by progressive microcephaly and psychomotor retardation, intracranial calcifications, elevated levels of interferon-alpha and white blood cells in the cerebrospinal fluid.[provided by RefSeq, Aug 2009]
RNASEH2B	chr13	50909678	50973745	+	ENSG00000136104.19	protein_coding	AGS2|DLEU8	13q14.3	ribonuclease H2 subunit B	RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [provided by RefSeq, Nov 2008]
RNASEH2C	chr11	65714896	65720947	-	ENSG00000172922.8	protein_coding	AGS3|AYP1	11q13.1	ribonuclease H2 subunit C	This gene encodes a ribonuclease H subunit that can cleave ribonucleotides from RNA:DNA duplexes. Mutations in this gene cause Aicardi-Goutieres syndrome-3, a disease that causes severe neurologic dysfunction. A pseudogene for this gene has been identified on chromosome Y, near the sex determining region Y (SRY) gene. [provided by RefSeq, Jul 2008]
RNASEK	chr17	7012417	7014532	+	ENSG00000219200.11	protein_coding	-	17p13.1	ribonuclease K	-
RNASEK-C17orf49	chr17	7012635	7017520	+	ENSG00000161939.19	protein_coding	BAP18|C17orf49	17p13.1	RNASEK-C17orf49 readthrough	This locus represents naturally occurring read-through transcription between the neighboring RNASEK (ribonuclease, RNase K) and C17orf49 (chromosome 17 open reading frame 49) genes. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Jan 2011]
RNASEL	chr1	182573634	182589256	-	ENSG00000135828.11	protein_coding	PRCA1|RNS4	1q25.3	ribonuclease L	This gene encodes a component of the interferon-regulated 2-5A system that functions in the antiviral and antiproliferative roles of interferons. The protein is involved in innate immunity and is active against multiple RNA viruses, including the influenza and SARS-CoV-2 viruses. Mutations in this gene have been associated with predisposition to prostate cancer and this gene is a candidate for the hereditary prostate cancer 1 (HPC1) allele. [provided by RefSeq, Nov 2021]
RNASET2	chr6	166929504	166957191	-	ENSG00000026297.15	protein_coding	RNASE6PL|bA514O12.3	6q27	ribonuclease T2	This ribonuclease gene is a novel member of the Rh/T2/S-glycoprotein class of extracellular ribonucleases. It is a single copy gene that maps to 6q27, a region associated with human malignancies and chromosomal rearrangement. [provided by RefSeq, Jul 2008]
RND1	chr12	48857145	48865898	-	ENSG00000172602.9	protein_coding	ARHS|RHO6|RHOS	12q13.12	Rho family GTPase 1	This gene encodes a protein that belongs to the Rho GTPase family. Members of this family regulate the organization of the actin cytoskeleton in response to extracellular growth factors. A similar protein in rat interacts with a microtubule regulator to control axon extension. [provided by RefSeq, Apr 2014]
RND2	chr17	43025241	43032036	+	ENSG00000108830.9	protein_coding	ARHN|RHO7|RhoN	17q21.31	Rho family GTPase 2	This gene encodes a member of the Rho GTPase family, whose members play a key role in the regulation of actin cytoskeleton organization in response to extracellular growth factors. This particular family member has been implicated in the regulation of neuronal morphology and endosomal trafficking. The gene localizes to chromosome 17 and is the centromeric neighbor of the breast-ovarian cancer susceptibility gene BRCA1. [provided by RefSeq, Jul 2008]
RNF10	chr12	120533480	120577594	+	ENSG00000022840.15	protein_coding	RIE2	12q24.31	ring finger protein 10	The protein encoded by this gene contains a ring finger motif, which is known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. EST data suggests the existence of multiple alternatively spliced transcript variants, however, their full length nature is not known. [provided by RefSeq, Jul 2008]
RNF103	chr2	86603393	86623866	-	ENSG00000239305.6	protein_coding	HKF-1|KF-1|KF1|ZFP-103|ZFP103	2p11.2	ring finger protein 103	The protein encoded by this gene contains a RING-H2 finger, a motif known to be involved in protein-protein and protein-DNA interactions. This gene is highly expressed in normal cerebellum, but not in the cerebral cortex. The expression of the rat counterpart in the frontal cortex and hippocampus was shown to be induced by elctroconvulsive treatment (ECT) as well as chronic antidepressant treatment, suggesting that this gene may be a molecular target for ECT and antidepressants. The protein is a ubiquitin ligase that functions in the endoplasmic reticulum-associated degradation pathway. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream CHMP3 (charged multivesicular body protein 3) gene. [provided by RefSeq, Oct 2011]
RNF11	chr1	51236271	51273455	+	ENSG00000123091.4	protein_coding	CGI-123|SID1669	1p32.3	ring finger protein 11	The protein encoded by this gene contains a RING-H2 finger motif, which is known to be important for protein-protein interactions. The expression of this gene has been shown to be induced by mutant RET proteins (MEN2A/MEN2B). The germline mutations in RET gene are known to be responsible for the development of multiple endocrine neoplasia (MEN). [provided by RefSeq, Jul 2008]
RNF111	chr15	58865175	59097419	+	ENSG00000157450.15	protein_coding	ARK|hRNF111	15q22.1-q22.2	ring finger protein 111	The protein encoded by this gene is a nuclear RING-domain containing E3 ubiquitin ligase. This protein interacts with the transforming growth factor (TGF) -beta/NODAL signaling pathway by promoting the ubiquitination and proteosomal degradation of negative regulators, like SMAD proteins, and thereby enhances TGF-beta target-gene transcription. As a modulator of the nodal signaling cascade, this gene plays a critical role in the induction of mesoderm during embryonic development. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]
RNF112	chr17	19411125	19417276	+	ENSG00000128482.15	protein_coding	BFP|ZNF179	17p11.2	ring finger protein 112	This gene encodes a member of the RING finger protein family of transcription factors. The protein is primarily expressed in brain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
RNF113B	chr13	98175785	98177265	-	ENSG00000139797.7	protein_coding	RNF161|ZNF183L1|bA10G5.1	13q32.2	ring finger protein 113B	Predicted to enable metal ion binding activity. Predicted to be involved in snoRNA splicing. Predicted to be part of U2-type spliceosomal complex. [provided by Alliance of Genome Resources, Apr 2022]
RNF114	chr20	49936336	49953892	+	ENSG00000124226.10	protein_coding	PSORS12|ZNF313	20q13.13	ring finger protein 114	Ubiquitous expression in testis (RPKM 40.7), spleen (RPKM 29.3) and 25 other tissues
RNF115	chr1	145738868	145824077	-	ENSG00000265491.4	protein_coding	BCA2|RABRING7|ZFP364|ZNF364	1q21.1	ring finger protein 115	Ubiquitous expression in heart (RPKM 16.1), fat (RPKM 8.2) and 25 other tissues
RNF121	chr11	71928701	71997597	+	ENSG00000137522.17	protein_coding	-	11q13.4	ring finger protein 121	Ubiquitous expression in kidney (RPKM 7.3), thyroid (RPKM 7.2) and 25 other tissues
RNF122	chr8	33547755	33567125	-	ENSG00000133874.1	protein_coding	-	8p12	ring finger protein 122	Ubiquitous expression in gall bladder (RPKM 7.2), adrenal (RPKM 6.8) and 25 other tissues
RNF123	chr3	49689499	49721529	+	ENSG00000164068.15	protein_coding	FP1477|KPC1	3p21.31	ring finger protein 123	The protein encoded by this gene contains a C-terminal RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions, and an N-terminal SPRY domain. This protein displays E3 ubiquitin ligase activity toward the cyclin-dependent kinase inhibitor 1B which is also known as p27 or KIP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
RNF125	chr18	32018372	32073213	+	ENSG00000101695.8	protein_coding	TNORS|TRAC-1|TRAC1	18q12.1	ring finger protein 125	This gene encodes a novel E3 ubiquitin ligase that contains a RING finger domain in the N-terminus and three zinc-binding and one ubiquitin-interacting motif in the C-terminus. As a result of myristoylation, this protein associates with membranes and is primarily localized to intracellular membrane systems. The encoded protein may function as a positive regulator in the T-cell receptor signaling pathway. [provided by RefSeq, Mar 2012]
RNF126	chr19	647526	663277	-	ENSG00000070423.17	protein_coding	-	19p13.3	ring finger protein 126	Ubiquitous expression in testis (RPKM 15.1), spleen (RPKM 11.1) and 25 other tissues
RNF13	chr3	149812708	149962139	+	ENSG00000082996.19	protein_coding	DEE73|EIEE73|RZF	3q25.1	ring finger protein 13	The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. The specific function of this gene has not yet been determined. Alternatively spliced transcript variants that encode the same protein have been reported. A pseudogene, which is also located on chromosome 3, has been defined for this gene. [provided by RefSeq, Jul 2008]
RNF130	chr5	179911651	180072118	-	ENSG00000113269.13	protein_coding	G1RP|G1RZFP|GOLIATH|GP	5q35.3	ring finger protein 130	The protein encoded by this gene contains a RING finger motif and is similar to g1, a Drosophila zinc-finger protein that is expressed in mesoderm and involved in embryonic development. The expression of the mouse counterpart was found to be upregulated in myeloblastic cells following IL3 deprivation, suggesting that this gene may regulate growth factor withdrawal-induced apoptosis of myeloid precursor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
RNF135	chr17	30968785	30999911	+	ENSG00000181481.13	protein_coding	L13|MMFD|REUL|Riplet	17q11.2	ring finger protein 135	The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. This gene is located in a chromosomal region known to be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
RNF138	chr18	32091855	32131561	+	ENSG00000134758.13	protein_coding	HSD-4|NARF|STRIN|hNARF	18q12.1	ring finger protein 138	The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
RNF138P1	chr5	55530156	55530701	-	ENSG00000250853.1	processed_pseudogene	-	5q11.2	ring finger protein 138 pseudogene 1	-
RNF139	chr8	124474738	124487914	+	ENSG00000170881.4	protein_coding	HRCA1|RCA1|TRC8	8q24.13	ring finger protein 139	The protein encoded by this gene is a multi-membrane spanning protein containing a RING-H2 finger. This protein is located in the endoplasmic reticulum, and has been shown to possess ubiquitin ligase activity. This gene was found to be interrupted by a t(3:8) translocation in a family with hereditary renal and non-medulary thyroid cancer. Studies of the Drosophila counterpart suggested that this protein may interact with tumor suppressor protein VHL, as well as with  COPS5/JAB1, a protein responsible for the degradation of tumor suppressor CDKN1B/P27KIP. [provided by RefSeq, Jul 2008]
RNF14	chr5	141958328	141990291	+	ENSG00000013561.17	protein_coding	ARA54|HFB30|HRIHFB2038|TRIAD2	5q31.3	ring finger protein 14	The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein interacts with androgen receptor (AR) and may function as a coactivator that induces AR target gene expression in prostate. A dominant negative mutant of this gene has been demonstrated to inhibit the AR-mediated growth of prostate cancer. This protein also interacts with class III ubiquitin-conjugating enzymes (E2s) and may act as a ubiquitin-ligase (E3) in the ubiquitination of certain nuclear proteins. Six alternatively spliced transcript variants encoding two distinct isoforms have been reported. [provided by RefSeq, Jan 2011]
RNF141	chr11	10511678	10541230	-	ENSG00000110315.6	protein_coding	RFP141|ZFP26|ZNF230	11p15.4|11p15	ring finger protein 141	The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. Abundant expression of this gene was found in the testicular tissue of fertile men, but was not detected in azoospermic patients. Studies of the mouse counterpart suggest that this gene may function as a testis specific transcription factor during spermatogenesis. [provided by RefSeq, Jul 2008]
RNF144A	chr2	6917392	7068286	+	ENSG00000151692.14	protein_coding	RNF144|UBCE7IP4|UIP4|hUIP4	2p25.1	ring finger protein 144A	This gene encodes a member of a family of RING finger domain-containing E3 ubiquitin ligases that also includes parkin and parc. The expression of this gene is induced by DNA damage. The encoded protein interacts with the cytoplasmic DNA-dependent protein kinase, catalytic subunit (DNA-PKcs) and promotes its degradation through ubiquitination. The orthologous mouse protein has been shown to interact with a ubiquitin-conjugating enzyme involved in embryonic development. [provided by RefSeq, Mar 2017]
RNF144B	chr6	18387350	18468874	+	ENSG00000137393.9	protein_coding	IBRDC2|PIR2|bA528A10.3|p53RFP	6p22.3	ring finger protein 144B	Broad expression in thyroid (RPKM 30.0), lung (RPKM 13.0) and 20 other tissues
RNF145	chr5	159157409	159210053	-	ENSG00000145860.11	protein_coding	-	5q33.3	ring finger protein 145	Ubiquitous expression in lung (RPKM 33.4), gall bladder (RPKM 23.7) and 24 other tissues
RNF146	chr6	127266610	127288567	+	ENSG00000118518.15	protein_coding	-	6q22.33	ring finger protein 146	-
RNF149	chr2	101271219	101308701	-	ENSG00000163162.8	protein_coding	DNAPTP2	2q11.2	ring finger protein 149	Ubiquitous expression in bone marrow (RPKM 14.1), appendix (RPKM 12.5) and 25 other tissues
RNF150	chr4	140859807	141212877	-	ENSG00000170153.10	protein_coding	-	4q31.21	ring finger protein 150	-
RNF151	chr16	1966823	1968975	+	ENSG00000179580.9	protein_coding	-	16p13.3	ring finger protein 151	-
RNF152	chr18	61808063	61894247	-	ENSG00000176641.10	protein_coding	-	18q21.33	ring finger protein 152	-
RNF157	chr17	76142453	76240373	-	ENSG00000141576.14	protein_coding	-	17q25.1	ring finger protein 157	-
RNF165	chr18	46326809	46463140	+	ENSG00000141622.13	protein_coding	ARKL2|Ark2C|RNF111L2	18q21.1	ring finger protein 165	Encoded in regions involved in pericentric inversions in patients with bipolar affective disorder. [provided by RefSeq, Jul 2008]
RNF166	chr16	88696495	88706421	-	ENSG00000158717.10	protein_coding	-	16q24.2-q24.3	ring finger protein 166	-
RNF167	chr17	4940008	4945222	+	ENSG00000108523.15	protein_coding	5730408C10Rik|LP2254|RING105	17p13.2	ring finger protein 167	RNF167 is an E3 ubiquitin ligase that interacts with TSSC5 (SLC22A18; MIM 602631) and, together with UBCH6 (UBE2E1; MIM 602916), facilitates TSSC5 polyubiquitylation (Yamada and Gorbsky, 2006 [PubMed 16314844]).[supplied by OMIM, Mar 2008]
RNF168	chr3	196468783	196503768	-	ENSG00000163961.4	protein_coding	RIDL|hRNF168	3q29	ring finger protein 168	This gene encodes an E3 ubiquitin ligase protein that contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The protein is involved in DNA double-strand break (DSB) repair. Mutations in this gene result in Riddle syndrome. [provided by RefSeq, Sep 2011]
RNF169	chr11	74748868	74842413	+	ENSG00000166439.5	protein_coding	-	11q13.4	ring finger protein 169	-
RNF170	chr8	42849637	42897290	-	ENSG00000120925.15	protein_coding	ADSA|SNAX1	8p11.21	ring finger protein 170	This gene encodes a RING domain-containing protein that resides in the endoplasmic reticulum (ER) membrane. This protein functions as an E3 ubiquitin ligase and mediates ubiquitination and processing of inositol 1,4,5-trisphosphate (IP3) receptors via the ER-associated protein degradation pathway. It is recruited to the activated IP3 receptors by the ERLIN1/ERLIN2 complex to which it is constitutively bound. Mutations in this gene are associated with autosomal dominant sensory ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]
RNF175	chr4	153710125	153760235	-	ENSG00000145428.14	protein_coding	-	4q31.3	ring finger protein 175	-
RNF180	chr5	64165844	64372869	+	ENSG00000164197.11	protein_coding	RINES	5q12.3	ring finger protein 180	Broad expression in thyroid (RPKM 3.9), brain (RPKM 2.6) and 23 other tissues
RNF181	chr2	85595725	85597613	+	ENSG00000168894.9	protein_coding	HSPC238	2p11.2	ring finger protein 181	RNF181 binds the integrin alpha-IIb (ITGA2B; MIM 607759)/beta-3 (ITGB3; MIM 173470) complex and has E3 ubiquitin ligase activity (Brophy et al., 2008 [PubMed 18331836]).[supplied by OMIM, Dec 2008]
RNF182	chr6	13924446	13980302	+	ENSG00000180537.12	protein_coding	-	6p23	ring finger protein 182	-
RNF183	chr9	113297093	113303376	-	ENSG00000165188.13	protein_coding	-	9q32	ring finger protein 183	-
RNF185	chr22	31160183	31207019	+	ENSG00000138942.15	protein_coding	-	22q12.2	ring finger protein 185	-
RNF186	chr1	19814029	19815278	-	ENSG00000178828.6	protein_coding	-	1p36.13	ring finger protein 186	-
RNF187	chr1	228487061	228495766	+	ENSG00000168159.11	protein_coding	RACO-1|RACO1	1q42.13	ring finger protein 187	Ubiquitous expression in thyroid (RPKM 54.8), brain (RPKM 49.5) and 25 other tissues
RNF19A	chr8	100257060	100336218	-	ENSG00000034677.12	protein_coding	RNF19	8q22.2	ring finger protein 19A, RBR E3 ubiquitin protein ligase	This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ubiquitin ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting protein of alpha synuclein in neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinsons disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
RNF19B	chr1	32936445	32964685	-	ENSG00000116514.16	protein_coding	IBRDC3|NKLAM	1p35.1	ring finger protein 19B	This gene encodes a multi-pass membrane protein containing two RING-type and one IBR-type zinc finger motifs. The encoded protin is an E3 ubiquitin-protein ligase that plays a role in the cytotoxic effects of natural killer (NK) cells. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes X and Y in a possible pseudoautosomal region. [provided by RefSeq, Jul 2014]
RNF2	chr1	185045364	185102608	+	ENSG00000121481.10	protein_coding	BAP-1|BAP1|DING|HIPI3|LUSYAM|RING1B|RING2	1q25.3	ring finger protein 2	Polycomb group (PcG) of proteins form the multiprotein complexes that are important for the transcription repression of various genes involved in development and cell proliferation. The protein encoded by this gene is one of the PcG proteins. It has been shown to interact with, and suppress the activity of, transcription factor CP2 (TFCP2/CP2). Studies of the mouse counterpart suggested the involvement of this gene in the specification of anterior-posterior axis, as well as in cell proliferation in early development. This protein was also found to interact with huntingtin interacting protein 2 (HIP2), an ubiquitin-conjugating enzyme, and possess ubiquitin ligase activity. [provided by RefSeq, Jul 2008]
RNF207	chr1	6205475	6221299	+	ENSG00000158286.12	protein_coding	C1orf188	1p36.31	ring finger protein 207	Ubiquitous expression in heart (RPKM 5.9), prostate (RPKM 3.0) and 24 other tissues
RNF208	chr9	137220247	137221581	-	ENSG00000212864.3	protein_coding	-	9q34.3	ring finger protein 208	-
RNF212	chr4	1056250	1113562	-	ENSG00000178222.12	protein_coding	ZHP3	4p16.3	ring finger protein 212	This gene encodes a RING finger protein that may function as a ubiquitin ligase. The encoded protein may be involved in meiotic recombination. This gene is located within a linkage disequilibrium block and polymorphisms in this gene may influence recombination rates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]
RNF212B	chr14	23185316	23273477	+	ENSG00000215277.8	protein_coding	C14orf164	14q11.2	ring finger protein 212B	Broad expression in kidney (RPKM 3.6), testis (RPKM 2.0) and 20 other tissues
RNF213	chr17	80260866	80398786	+	ENSG00000173821.19	protein_coding	ALO17|C17orf27|KIAA1618|MYMY2|MYSTR|NET57	17q25.3	ring finger protein 213	This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
RNF214	chr11	117232625	117286445	+	ENSG00000167257.10	protein_coding	-	11q23.3	ring finger protein 214	-
RNF215	chr22	30368811	30421771	-	ENSG00000099999.14	protein_coding	-	22q12.2	ring finger protein 215	-
RNF216	chr7	5620047	5781739	-	ENSG00000011275.18	protein_coding	CAHH|TRIAD3|U7I1|UBCE7IP1|ZIN	7p22.1	ring finger protein 216	This gene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine protein kinase, receptor-interacting protein (RIP). Zinc finger domains of the encoded protein are required for its interaction with RIP and for inhibition of TNF- and IL1-induced NF-kappa B activation pathways. The encoded protein may also function as an E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes and transfers it to substrates. Several alternatively spliced transcript variants have been described for this locus but the full-length natures of only some are known. [provided by RefSeq, Jul 2008]
RNF216-IT1	chr7	5662432	5680461	-	ENSG00000237738.1	sense_intronic	-	7p22.1	RNF216 intronic transcript 1	-
RNF217	chr6	124962545	125092633	+	ENSG00000146373.16	protein_coding	C6orf172|IBRDC1|OSTL|dJ84N20.1	6q22.31	ring finger protein 217	This protein encoded by this gene is a member of the RING1-IBR-RING24 (RBR) ubiquitin protein ligase family, and it belongs to a subfamily of these proteins that contain a transmembrane domain. This protein can interact with the HAX1 anti-apoptotic protein via its C-terminal RING finger motif, which suggests a role in apoptosis signaling. It is thought that deregulation of this gene can be a mechanism in leukemogenesis. Mutations in the region encoding the protein GXXXG motif, which appears to be necessary for protein self-association, have been found in human cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
RNF220	chr1	44405194	44651724	+	ENSG00000187147.17	protein_coding	C1orf164	1p34.1	ring finger protein 220	Ubiquitous expression in brain (RPKM 10.7), testis (RPKM 7.1) and 25 other tissues
RNF222	chr17	8390704	8397826	-	ENSG00000189051.5	protein_coding	-	17p13.1	ring finger protein 222	-
RNF224	chr9	137227271	137229638	+	ENSG00000233198.3	protein_coding	-	9q34.3	ring finger protein 224	-
RNF227	chr17	 7913324	7916318	-	ENSG00000179859	protein-coding	LINC02581	17p13.1	ring finger protein 227	Biased expression in skin (RPKM 21.9), ovary (RPKM 2.7) and 13 other tissues
RNF24	chr20	3927309	4015582	-	ENSG00000101236.16	protein_coding	G1L	20p13	ring finger protein 24	This gene encodes an integral membrane protein that contains a RING-type zinc finger. The encoded protein may interact with multiple transient receptor potential cation channel subfamily C (TRPC) proteins and regulate the trafficking and insertion of these proteins into the plasma membrane. [provided by RefSeq, Mar 2016]
RNF25	chr2	218663864	218672411	-	ENSG00000163481.7	protein_coding	AO7	2q35	ring finger protein 25	The protein encoded by this gene contains a RING finger motif. The mouse counterpart of this protein has been shown to interact with Rela, the p65 subunit of NF-kappaB (NFKB), and modulate NFKB-mediated transcription activity. The mouse protein also binds ubiquitin-conjugating enzymes (E2s) and is a substrate for E2-dependent ubiquitination. [provided by RefSeq, Jul 2008]
RNF26	chr11	119334527	119337313	+	ENSG00000173456.4	protein_coding	-	11q23.3	ring finger protein 26	-
RNF2P1	chr9	6668999	6670008	-	ENSG00000231381.2	processed_pseudogene	RNF2P	9p24.1	ring finger protein 2 pseudogene 1	-
RNF31	chr14	24146683	24160661	+	ENSG00000092098.16	protein_coding	HOIP|Paul|ZIBRA	14q12	ring finger protein 31	The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. The encoded protein is the E3 ubiquitin-protein ligase component of the linear ubiquitin chain assembly complex. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
RNF34	chr12	121400041	121430623	+	ENSG00000170633.16	protein_coding	CARP-1|CARP1|RFI|RIF|RIFF|hRFI	12q24.31	ring finger protein 34	The protein encoded by this gene contains a RINF finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein interacts with DNAJA3/hTid-1, which is a DnaJ protein reported to function as a modulator of apoptosis. Overexpression of this gene in Hela cells was shown to confer the resistance to TNF-alpha induced apoptosis, suggesting an anti-apoptotic function of this protein. This protein can be cleaved by caspase-3 during the induction of apoptosis. This protein also targets p53 and phospho-p53 for degradation. Alternatively splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]
RNF38	chr9	36336396	36487548	-	ENSG00000137075.17	protein_coding	-	9p13.2	ring finger protein 38	Ubiquitous expression in testis (RPKM 25.8), ovary (RPKM 14.9) and 25 other tissues
RNF39	chr6	30070266	30075887	-	ENSG00000204618.8	protein_coding	FAP216|HZF|HZFW|LIRF	6p22.1	ring finger protein 39	This gene lies within the major histocompatibility complex class I region on chromosome 6. Studies of a similar rat protein suggest that this gene encodes a protein that plays a role in an early phase of synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
RNF4	chr4	2462220	2625320	+	ENSG00000063978.15	protein_coding	RES4-26|SLX5|SNURF	4p16.3	ring finger protein 4	The protein encoded by this gene contains a RING finger motif and acts as a transcription regulator. This protein has been shown to interact with, and inhibit the activity of, TRPS1, a transcription suppressor of GATA-mediated transcription. Transcription repressor ZNF278/PATZ is found to interact with this protein, and thus reduce the enhancement of androgen receptor-dependent transcription mediated by this protein. Studies of the mouse and rat counterparts suggested a role of this protein in spermatogenesis. A pseudogene of this gene is found on chromosome 1.[provided by RefSeq, Jul 2010]
RNF40	chr16	30761745	30776307	+	ENSG00000103549.21	protein_coding	BRE1B|RBP95|STARING	16p11.2	ring finger protein 40	The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart suggested that this protein may function as an E3 ubiquitin-protein ligase, and facilitate the ubiquitination and degradation of syntaxin 1, which is an essential component of the neurotransmitter release machinery. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
RNF41	chr12	56202175	56221933	-	ENSG00000181852.17	protein_coding	FLRF|NRDP1|SBBI03	12q13.3	ring finger protein 41	This gene encodes an E3 ubiquitin ligase. The encoded protein plays a role in type 1 cytokine receptor signaling by controlling the balance between JAK2-associated cytokine receptor degradation and ectodomain shedding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]
RNF43	chr17	58352500	58417595	-	ENSG00000108375.12	protein_coding	RNF124|SSPCS|URCC	17q22	ring finger protein 43	The protein encoded by this gene is a RING-type E3 ubiquitin ligase and is predicted to contain a transmembrane domain, a protease-associated domain, an ectodomain, and a cytoplasmic RING domain. This protein is thought to negatively regulate Wnt signaling, and expression of this gene results in an increase in ubiquitination of frizzled receptors, an alteration in their subcellular distribution, resulting in reduced surface levels of these receptors. Mutations in this gene have been reported in multiple tumor cells, including colorectal and endometrial cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
RNF44	chr5	176526697	176538025	-	ENSG00000146083.11	protein_coding	-	5q35.2	ring finger protein 44	Ubiquitous expression in spleen (RPKM 19.0), lymph node (RPKM 14.6) and 25 other tissues
RNF5	chr6	32178354	32180793	+	ENSG00000204308.7	protein_coding	RING5|RMA1	6p21.32	ring finger protein 5	The protein encoded by this gene contains a RING finger, which is a motif known to be involved in protein-protein interactions. This protein is a membrane-bound ubiquitin ligase. It can regulate cell motility by targeting paxillin ubiquitination and altering the distribution and localization of paxillin in cytoplasm and cell focal adhesions. [provided by RefSeq, Jul 2008]
RNF7	chr3	141738204	141747560	+	ENSG00000114125.13	protein_coding	CKBBP1|ROC2|SAG|rbx2	3q23	ring finger protein 7	The protein encoded by this gene is a highly conserved ring finger protein. It is an essential subunit of SKP1-cullin/CDC53-F box protein ubiquitin ligases, which are a part of the protein degradation machinery important for cell cycle progression and signal transduction. This protein interacts with, and is a substrate of, casein kinase II (CSNK2A1/CKII). The phosphorylation of this protein by CSNK2A1 has been shown to promote the degradation of IkappaBalpha (CHUK/IKK-alpha/IKBKA) and p27Kip1(CDKN1B). Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
RNF7P1	chr3	57519669	57520010	-	ENSG00000239831.1	processed_pseudogene	-	3p14.3	ring finger protein 7 pseudogene 1	-
RNF8	chr6	37353972	37394738	+	ENSG00000112130.16	protein_coding	hRNF8	6p21.2	ring finger protein 8	The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin ligase (E3) in the ubiquitination of certain nuclear proteins. This protein is also known to play a role in the DNA damage response and depletion of this protein causes cell growth inhibition and cell cycle arrest. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
RNFT1	chr17	59952240	59964761	-	ENSG00000189050.15	protein_coding	PTD016	17q23.1	ring finger protein, transmembrane 1	Broad expression in testis (RPKM 54.5), appendix (RPKM 8.9) and 22 other tissues
RNFT1P2	chr1	78170481	78171237	-	ENSG00000233333.2	processed_pseudogene	-	1p31.1	ring finger protein, transmembrane 1 pseudogene 2	-
RNFT2	chr12	116738178	116853631	+	ENSG00000135119.14	protein_coding	TMEM118	12q24.22	ring finger protein, transmembrane 2	Biased expression in brain (RPKM 3.4), testis (RPKM 1.1) and 7 other tissues
RNGTT	chr6	88610272	88963721	-	ENSG00000111880.15	protein_coding	CAP1A|HCE|HCE1|hCAP	6q15	RNA guanylyltransferase and 5'-phosphatase	Ubiquitous expression in lymph node (RPKM 8.1), testis (RPKM 5.3) and 24 other tissues
RNH1	chr11	494512	507300	-	ENSG00000023191.16	protein_coding	RAI|RNH	11p15.5	ribonuclease/angiogenin inhibitor 1	Placental ribonuclease inhibitor (PRI) is a member of a family of proteinaceous cytoplasmic RNase inhibitors that occur in many tissues and bind to both intracellular and extracellular RNases (summarized by Lee et al., 1988 [PubMed 3219362]). In addition to control of intracellular RNases, the inhibitor may have a role in the regulation of angiogenin (MIM 105850). Ribonuclease inhibitor, of 50,000 Da, binds to ribonucleases and holds them in a latent form. Since neutral and alkaline ribonucleases probably play a critical role in the turnover of RNA in eukaryotic cells, RNH may be essential for control of mRNA turnover; the interaction of eukaryotic cells with ribonuclease may be reversible in vivo.[supplied by OMIM, Jul 2010]
RNLS	chr10	88273864	88584530	-	ENSG00000184719.11	protein_coding	C10orf59|RENALASE	10q23.31	renalase, FAD dependent amine oxidase	Renalase is a flavin adenine dinucleotide-dependent amine oxidase that is secreted into the blood from the kidney (Xu et al., 2005 [PubMed 15841207]).[supplied by OMIM, Mar 2008]
RNMT	chr18	13726660	13764558	+	ENSG00000101654.17	protein_coding	CMT1|CMT1c|MET|Met|RG7MT1|cm1p|hCMT1|hMet	18p11.21	RNA guanine-7 methyltransferase	Ubiquitous expression in brain (RPKM 9.8), thyroid (RPKM 9.0) and 25 other tissues
RNPEP	chr1	201982372	202006147	+	ENSG00000176393.10	protein_coding	AP-B|APB	1q32.1	arginyl aminopeptidase	Ubiquitous expression in duodenum (RPKM 31.1), colon (RPKM 27.9) and 25 other tissues
RNPEPL1	chr2	240565804	240581372	+	ENSG00000142327.12	protein_coding	-	2q37.3	arginyl aminopeptidase like 1	-
RNPS1	chr16	2253116	2268412	-	ENSG00000205937.11	protein_coding	E5.1	16p13.3	RNA binding protein with serine rich domain 1	This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. This protein contains many serine residues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
RNU1-1	chr1	16514122	16514285	-	ENSG00000206652.1	snRNA	HSD1|HU1-1|RNU1|RNU1A|RNU1A3|RNU1G4|Rnu1a1|U1|U1A1	1p36.13	RNA, U1 small nuclear 1	-
RNU1-100P	chr3	142420205	142420369	-	ENSG00000202125.1	snRNA	-	3q23	RNA, U1 small nuclear 100, pseudogene	-
RNU1-103P	chr16	85781775	85781899	-	ENSG00000252311.1	snRNA	-	16q24.1	RNA, U1 small nuclear 103, pseudogene	-
RNU1-123P	chr16	67390691	67390850	-	ENSG00000239194.1	snRNA	-	16q22.1	RNA, U1 small nuclear 123, pseudogene	-
RNU1-22P	chr16	3086143	3086300	+	ENSG00000200204.1	snRNA	-	16p13.3	RNA, U1 small nuclear 22, pseudogene	-
RNU1-38P	chr2	85728194	85728337	-	ENSG00000199687.1	snRNA	-	2p11.2	RNA, U1 small nuclear 38, pseudogene	-
RNU11-3P	chr10	103312436	103312568	-	ENSG00000212413.1	snRNA	-	10q24.33	RNA, U11 small nuclear 3, pseudogene	-
RNU2-11P	chr3	195928589	195928775	-	ENSG00000239122.1	snRNA	-	3q29	RNA, U2 small nuclear 11, pseudogene	-
RNU2-22P	chr2	231501990	231502201	-	ENSG00000223198.1	snRNA	-	2q37.1	RNA, U2 small nuclear 22, pseudogene	-
RNU2-46P	chr9	95859904	95860016	+	ENSG00000252847.1	snRNA	-	9q22.32	RNA, U2 small nuclear 46, pseudogene	-
RNU2-6P	chr13	46374401	46374590	-	ENSG00000223336.1	snRNA	-	13q14.13	RNA, U2 small nuclear 6, pseudogene	-
RNU4-1	chr12	120293097	120293237	-	ENSG00000200795.1	snRNA	RNU4A|RNU4B2|U4|U4BL	12q24.23	RNA, U4 small nuclear 1	-
RNU4-32P	chr12	109567975	109568115	-	ENSG00000200274.1	snRNA	-	12q24.11	RNA, U4 small nuclear 32, pseudogene	-
RNU4-39P	chr11	66614964	66615090	-	ENSG00000199325.1	snRNA	-	11q13.2	RNA, U4 small nuclear 39, pseudogene	-
RNU4-40P	chr20	35887659	35887801	+	ENSG00000201221.1	snRNA	-	20q11.23	RNA, U4 small nuclear 40, pseudogene	-
RNU4-46P	chr16	19498610	19498747	+	ENSG00000222750.1	snRNA	-	16p12.3	RNA, U4 small nuclear 46, pseudogene	-
RNU4-51P	chr2	60911303	60911442	+	ENSG00000201076.1	snRNA	-	2p16.1	RNA, U4 small nuclear 51, pseudogene	-
RNU4-7P	chr6	150326623	150326763	-	ENSG00000201628.1	snRNA	RNU4P1|U4|U4/7	6q25.1	RNA, U4 small nuclear 7, pseudogene	-
RNU4-82P	chr9	124887410	124887549	-	ENSG00000199313.1	snRNA	-	9q33.3	RNA, U4 small nuclear 82, pseudogene	-
RNU5A-1	chr15	65296051	65296166	+	ENSG00000199568.1	snRNA	RNU5|RNU5A|RNU5C|U5A|U5B1	15q22.31	RNA, U5A small nuclear 1	-
RNU6-1005P	chr16	21642054	21642160	+	ENSG00000207248.1	snRNA	-	16p12.2	RNA, U6 small nuclear 1005, pseudogene	-
RNU6-1016P	chr6	75644084	75644177	+	ENSG00000252498.1	snRNA	-	6q14.1	RNA, U6 small nuclear 1016, pseudogene	-
RNU6-1022P	chr1	21987816	21987919	+	ENSG00000201919.1	snRNA	-	1p36.12	RNA, U6 small nuclear 1022, pseudogene	-
RNU6-1025P	chr11	948421	948524	+	ENSG00000222561.1	snRNA	-	11p15.5	RNA, U6 small nuclear 1025, pseudogene	-
RNU6-1026P	chr1	50582404	50582511	+	ENSG00000207194.1	snRNA	-	1p32.3	RNA, U6 small nuclear 1026, pseudogene	-
RNU6-105P	chr2	71379755	71379858	-	ENSG00000200779.1	snRNA	-	2p13.2	RNA, U6 small nuclear 105, pseudogene	-
RNU6-1061P	chr16	71563430	71563528	-	ENSG00000252339.1	snRNA	-	16q22.2	RNA, U6 small nuclear 1061, pseudogene	-
RNU6-1099P	chr1	19305076	19305182	-	ENSG00000200403.1	snRNA	-	1p36.13	RNA, U6 small nuclear 1099, pseudogene	-
RNU6-1136P	chr7	102834605	102834708	+	ENSG00000252643.1	snRNA	-	7q22.1	RNA, U6 small nuclear 1136, pseudogene	-
RNU6-1215P	chr2	18583367	18583468	-	ENSG00000207170.1	snRNA	-	2p24.2	RNA, U6 small nuclear 1215, pseudogene	-
RNU6-1231P	chr10	102803929	102804031	+	ENSG00000252994.1	snRNA	-	10q24.32	RNA, U6 small nuclear 1231, pseudogene	-
RNU6-1257P	chr20	24974171	24974280	+	ENSG00000207355.1	snRNA	-	20p11.21	RNA, U6 small nuclear 1257, pseudogene	-
RNU6-125P	chr1	88816779	88816885	+	ENSG00000207234.1	snRNA	-	1p22.2	RNA, U6 small nuclear 125, pseudogene	-
RNU6-1280P	chr15	85651522	85651628	-	ENSG00000202081.1	snRNA	-	15q25.3	RNA, U6 small nuclear 1280, pseudogene	-
RNU6-12P	chr8	118976513	118976619	+	ENSG00000207334.1	snRNA	RNU6-12	8q24.12	RNA, U6 small nuclear 12, pseudogene	-
RNU6-135P	chr1	23163953	23164053	+	ENSG00000252578.1	snRNA	-	1p36.12	RNA, U6 small nuclear 135, pseudogene	-
RNU6-136P	chr2	218589214	218589320	-	ENSG00000207393.1	snRNA	-	2q35	RNA, U6 small nuclear 136, pseudogene	-
RNU6-137P	chr2	42712740	42712847	+	ENSG00000200550.1	snRNA	-	2p21	RNA, U6 small nuclear 137, pseudogene	-
RNU6-182P	chr2	171856566	171856670	-	ENSG00000252779.1	snRNA	-	2q31.1	RNA, U6 small nuclear 182, pseudogene	-
RNU6-188P	chr15	42427591	42427697	-	ENSG00000201077.1	snRNA	-	15q15.1	RNA, U6 small nuclear 188, pseudogene	-
RNU6-199P	chr12	51162901	51163007	+	ENSG00000199824.1	snRNA	-	12q13.13	RNA, U6 small nuclear 199, pseudogene	-
RNU6-2	chr19	1021522	1021628	+	ENSG00000207357.1	snRNA	U6-2	19p13.3	RNA, U6 small nuclear 2	-
RNU6-208P	chr16	71666091	71666197	+	ENSG00000199301.1	snRNA	-	16q22.2	RNA, U6 small nuclear 208, pseudogene	-
RNU6-223P	chr7	135960703	135960809	+	ENSG00000199700.1	snRNA	-	7q33	RNA, U6 small nuclear 223, pseudogene	-
RNU6-26P	chr3	98804978	98805084	-	ENSG00000206712.1	snRNA	RNU6-26|RNU6-8	3q12.1	RNA, U6 small nuclear 26, pseudogene	-
RNU6-291P	chr1	11226254	11226360	+	ENSG00000207451.1	snRNA	-	1p36.22	RNA, U6 small nuclear 291, pseudogene	-
RNU6-312P	chr2	200881715	200881821	-	ENSG00000201499.1	snRNA	-	2q33.1	RNA, U6 small nuclear 312, pseudogene	-
RNU6-32P	chr4	39297605	39297711	-	ENSG00000206675.1	snRNA	RNU6-32	4p14	RNA, U6 small nuclear 32, pseudogene	-
RNU6-33P	chr4	88684848	88684954	-	ENSG00000207524.1	snRNA	RNU6-33	4q22.1	RNA, U6 small nuclear 33, pseudogene	-
RNU6-343P	chr12	56588518	56588621	+	ENSG00000201579.1	snRNA	-	12q13.3	RNA, U6 small nuclear 343, pseudogene	-
RNU6-353P	chr15	43702363	43702470	+	ENSG00000201136.1	snRNA	-	15q15.3	RNA, U6 small nuclear 353, pseudogene	-
RNU6-378P	chr5	32309662	32309768	+	ENSG00000207052.1	snRNA	-	5p13.3	RNA, U6 small nuclear 378, pseudogene	-
RNU6-388P	chr7	33001950	33002054	-	ENSG00000252821.1	snRNA	-	7p14.3	RNA, U6 small nuclear 388, pseudogene	-
RNU6-407P	chr20	35030317	35030420	-	ENSG00000202150.1	snRNA	-	20q11.22	RNA, U6 small nuclear 407, pseudogene	-
RNU6-422P	chr10	100258571	100258677	+	ENSG00000207362.1	snRNA	-	10q24.31	RNA, U6 small nuclear 422, pseudogene	-
RNU6-433P	chr2	55014418	55014521	-	ENSG00000200086.1	snRNA	-	2p16.1	RNA, U6 small nuclear 433, pseudogene	-
RNU6-460P	chr5	138116573	138116680	+	ENSG00000212460.1	snRNA	-	5q31.2	RNA, U6 small nuclear 460, pseudogene	-
RNU6-476P	chr22	41679711	41679817	+	ENSG00000207457.1	snRNA	-	22q13.2	RNA, U6 small nuclear 476, pseudogene	-
RNU6-483P	chr3	57548838	57548945	+	ENSG00000206815.1	snRNA	-	3p14.3	RNA, U6 small nuclear 483, pseudogene	-
RNU6-509P	chr3	141902924	141903030	-	ENSG00000200389.1	snRNA	-	3q23	RNA, U6 small nuclear 509, pseudogene	-
RNU6-50P	chrX	46517766	46517868	+	ENSG00000199226.1	snRNA	RNU6-50|RNU6P1|U6	Xp11.3	RNA, U6 small nuclear 50, pseudogene	-
RNU6-510P	chr1	37991462	37991569	+	ENSG00000212541.1	snRNA	-	1p34.3	RNA, U6 small nuclear 510, pseudogene	-
RNU6-516P	chr15	40529570	40529673	+	ENSG00000223313.1	snRNA	-	15q15.1	RNA, U6 small nuclear 516, pseudogene	-
RNU6-517P	chr7	121194948	121195057	-	ENSG00000207090.1	snRNA	-	7q31.31	RNA, U6 small nuclear 517, pseudogene	-
RNU6-553P	chr4	105406997	105407092	+	ENSG00000200917.1	snRNA	-	4q24	RNA, U6 small nuclear 553, pseudogene	-
RNU6-554P	chr15	43602543	43602648	+	ENSG00000222398.1	snRNA	-	15q15.3	RNA, U6 small nuclear 554, pseudogene	-
RNU6-606P	chr5	87299687	87299797	-	ENSG00000207452.1	snRNA	-	5q14.3	RNA, U6 small nuclear 606, pseudogene	-
RNU6-611P	chr19	45047458	45047561	+	ENSG00000207003.1	snRNA	-	19q13.32	RNA, U6 small nuclear 611, pseudogene	-
RNU6-638P	chr17	78696694	78696797	-	ENSG00000252391.1	snRNA	-	17q25.3	RNA, U6 small nuclear 638, pseudogene	-
RNU6-646P	chr3	196708859	196708964	-	ENSG00000201441.1	snRNA	-	3q29	RNA, U6 small nuclear 646, pseudogene	-
RNU6-652P	chr4	55885595	55885701	+	ENSG00000202358.1	snRNA	-	4q12	RNA, U6 small nuclear 652, pseudogene	-
RNU6-680P	chr5	75709495	75709599	-	ENSG00000207333.1	snRNA	-	5q13.3	RNA, U6 small nuclear 680, pseudogene	-
RNU6-689P	chr14	75020761	75020867	+	ENSG00000206924.1	snRNA	-	14q24.3	RNA, U6 small nuclear 689, pseudogene	-
RNU6-729P	chr8	10476223	10476329	+	ENSG00000207128.1	snRNA	-	8p23.1	RNA, U6 small nuclear 729, pseudogene	-
RNU6-731P	chr1	6540854	6540964	+	ENSG00000253022.1	snRNA	-	1p36.31	RNA, U6 small nuclear 731, pseudogene	-
RNU6-759P	chr20	35647328	35647430	-	ENSG00000252549.1	snRNA	-	20q11.22	RNA, U6 small nuclear 759, pseudogene	-
RNU6-789P	chr3	136721394	136721495	-	ENSG00000252914.1	snRNA	-	3q22.3	RNA, U6 small nuclear 789, pseudogene	-
RNU6-828P	chr1	10163268	10163374	+	ENSG00000201746.1	snRNA	-	1p36.22	RNA, U6 small nuclear 828, pseudogene	-
RNU6-838P	chr4	48106081	48106188	-	ENSG00000200269.1	snRNA	-	4p12	RNA, U6 small nuclear 838, pseudogene	-
RNU6-850P	chr6	31756951	31757053	-	ENSG00000252743.1	snRNA	RNU6-1030P	6p21.33	RNA, U6 small nuclear 850, pseudogene	-
RNU6-879P	chr12	57415296	57415403	+	ENSG00000201198.1	snRNA	-	12q13.3	RNA, U6 small nuclear 879, pseudogene	-
RNU6-882P	chr3	9919051	9919153	-	ENSG00000212327.1	snRNA	-	3p25.3	RNA, U6 small nuclear 882, pseudogene	-
RNU6-900P	chr22	37891347	37891448	+	ENSG00000207227.1	snRNA	-	22q13.1	RNA, U6 small nuclear 900, pseudogene	-
RNU6-920P	chr17	29641611	29641702	-	ENSG00000222858.1	snRNA	-	17q11.2	RNA, U6 small nuclear 920, pseudogene	-
RNU6-937P	chr20	35928570	35928675	-	ENSG00000207053.1	snRNA	-	20q11.23	RNA, U6 small nuclear 937, pseudogene	-
RNU6-951P	chr2	38147415	38147521	+	ENSG00000199603.1	snRNA	-	2p22.2	RNA, U6 small nuclear 951, pseudogene	-
RNU6ATAC35P	chr1	220825620	220826063	+	ENSG00000221571.3	lincRNA	-	1q41	RNA, U6atac small nuclear 35, pseudogene	-
RNU6ATAC3P	chr17	46921124	46921249	+	ENSG00000210709.1	snRNA	-	17q21.32	RNA, U6atac small nuclear 3, pseudogene	-
RNU6ATAC4P	chr3	36968191	36968316	-	ENSG00000210181.1	snRNA	-	3p22.2	RNA, U6atac small nuclear 4, pseudogene	-
RNU6V	chr1	109591534	109591640	-	ENSG00000206832.1	snRNA	87U6|LH87	1p13.3	RNA, U6 small nuclear variant sequence with SNRPE pseudogene sequence	-
RNVU1-19	chr1	120850819	120850985	-	ENSG00000275538.1	snRNA	RNU1-126|RNU1-147|RNVU1-13|vU1.13|vU1.19	1p11.2	RNA, variant U1 small nuclear 19	-
RNVU1-20	chr1	-	-	-	-	snRNA	RNU1-110|vU1.20	1q21.2	RNA, variant U1 small nuclear 20	-
RNVU1-32	chr8	 127999131	127999294	+	ENSG00000207110	pseudogene	RNU1-106P|U1A4	8q24.21	RNA, variant U1 small nuclear 32	-
RNVU1-6	chr1	146052081	146052244	-	ENSG00000201558.1	snRNA	RNU1-99|vU1.6	1q21.1	RNA, variant U1 small nuclear 6	-
RNY1P4	chr13	32763438	32763552	-	ENSG00000207325.1	misc_RNA	-	13q13.1	RNY1 pseudogene 4	-
RNY3P8	chr13	95310830	95310955	-	ENSG00000223298.1	misc_RNA	-	13q32.1	RNY3 pseudogene 8	-
ROBO1	chr3	78597240	79767815	-	ENSG00000169855.19	protein_coding	DUTT1|SAX3	3p12.3	roundabout guidance receptor 1	Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
ROBO3	chr11	124865386	124881470	+	ENSG00000154134.14	protein_coding	HGPPS|HGPPS1|HGPS|RBIG1|RIG1	11q24.2	roundabout guidance receptor 3	This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. [provided by RefSeq, May 2019]
ROCK1	chr18	20946906	21111851	-	ENSG00000067900.7	protein_coding	P160ROCK|ROCK-I	18q11.1	Rho associated coiled-coil containing protein kinase 1	This gene encodes a protein serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibroblasts, as well as adhesion and aggregation of platelets and lymphocytes by shuttling between the inactive GDP-bound form and the active GTP-bound form. Rho is also essential in cytokinesis and plays a role in transcriptional activation by serum response factor. This protein, a downstream effector of Rho, phosphorylates and activates LIM kinase, which in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. A pseudogene, related to this gene, is also located on chromosome 18. [provided by RefSeq, Aug 2015]
ROCK1P1	chr18	109065	122219	+	ENSG00000263006.6	transcribed_unprocessed_pseudogene	ROCK1P	18p11.32	Rho associated coiled-coil containing protein kinase 1 pseudogene 1	Ubiquitous expression in testis (RPKM 12.3), bone marrow (RPKM 9.6) and 25 other tissues
ROCK2	chr2	11179761	11348330	-	ENSG00000134318.13	protein_coding	ROCK-II	2p25.1	Rho associated coiled-coil containing protein kinase 2	The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho. [provided by RefSeq, Jul 2008]
ROCR	chr17	 72021851	72025979	-	-	ncRNA	LINC02095	17q24.3	regulator of chondrogenesis RNA	Biased expression in salivary gland (RPKM 1.8), pancreas (RPKM 0.4) and 1 other tissue
ROGDI	chr16	4796968	4802950	-	ENSG00000067836.12	protein_coding	KTZS	16p13.3	rogdi atypical leucine zipper	This gene encodes a protein of unknown function. Loss-of-function mutation in this gene cause Kohlschutter-Tonz syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
ROM1	chr11	62611722	62615120	+	ENSG00000149489.8	protein_coding	ROM|ROSP1|RP7|TSPAN23	11q12.3	retinal outer segment membrane protein 1	This gene is a member of a photoreceptor-specific gene family and encodes an integral membrane protein found in the photoreceptor disk rim of the eye. This protein can form homodimers or can heterodimerize with another photoreceptor, retinal degeneration slow (RDS). It is essential for disk morphogenesis, and may also function as an adhesion molecule involved in the stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. Certain defects in this gene have been associated with the degenerative eye disease retinitis pigmentosa. [provided by RefSeq, Jul 2008]
ROMO1	chr20	35699272	35700984	+	ENSG00000125995.15	protein_coding	C20orf52|MTGM|MTGMP|bA353C18.2	20q11.22	reactive oxygen species modulator 1	The protein encoded by this gene is a mitochondrial membrane protein that is responsible for increasing the level of reactive oxygen species (ROS) in cells. The protein also has antimicrobial activity against a variety of bacteria by inducing bacterial membrane breakage. [provided by RefSeq, Nov 2014]
ROPN1	chr3	123968521	123992178	-	ENSG00000065371.17	protein_coding	CT91|ODF6|RHPNAP1|ROPN1A|ropporin	3q21.1	rhophilin associated tail protein 1	The protein encoded by this gene is found in the fibrous sheath of spermatazoa, where it interacts with rhophilin, a Rho GTPase binding protein. The encoded protein also can bind an A-kinase anchoring protein (AKAP110) and a calcium-binding tyrosine phosphorylation-regulated protein (CABYR). This protein may be involved in sperm motility and has been shown to be a cancer-testis antigen in hematologic malignancies. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]
ROPN1B	chr3	125969144	125983454	+	ENSG00000114547.9	protein_coding	-	3q21.2	rhophilin associated tail protein 1B	-
ROR2	chr9	91563091	91950162	-	ENSG00000169071.14	protein_coding	BDB|BDB1|NTRKR2	9q22.31	receptor tyrosine kinase like orphan receptor 2	The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors.  The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development.  Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. [provided by RefSeq, Jul 2008]
RORA	chr15	60488284	61229319	-	ENSG00000069667.15	protein_coding	IDDECA|NR1F1|ROR1|ROR2|ROR3|RZR-ALPHA|RZRA	15q22.2	RAR related orphan receptor A	The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014]
RORA-AS1	chr15	60479178	60630637	+	ENSG00000245534.6	antisense	-	15q22.2	RORA antisense RNA 1	-
RORB	chr9	74497365	74693177	+	ENSG00000198963.10	protein_coding	EIG15|NR1F2|ROR-BETA|RZR-BETA|RZRB|bA133M9.1	9q21.13	RAR related orphan receptor B	The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It is a DNA-binding protein that can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, and to help regulate the expression of some genes involved in circadian rhythm. [provided by RefSeq, Feb 2014]
RORB-AS1	chr9	74485551	74499127	-	ENSG00000224825.2	antisense	-	9q21.13	RORB antisense RNA 1	-
RORC	chr1	151806071	151831872	-	ENSG00000143365.17	protein_coding	IMD42|NR1F3|RORG|RZR-GAMMA|RZRG|TOR	1q21.3	RAR related orphan receptor C	The protein encoded by this gene is a DNA-binding transcription factor and is a member of the NR1 subfamily of nuclear hormone receptors. The specific functions of this protein are not known; however, studies of a similar gene in mice have shown that this gene may be essential for lymphoid organogenesis and may play an important regulatory role in thymopoiesis. In addition, studies in mice suggest that the protein encoded by this gene may inhibit the expression of Fas ligand and IL2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ROS1	chr6	117288300	117425855	-	ENSG00000047936.10	protein_coding	MCF3|ROS|c-ros-1	6q22.1	ROS proto-oncogene 1, receptor tyrosine kinase	This proto-oncogene, highly-expressed in a variety of tumor cell lines, belongs to the sevenless subfamily of tyrosine kinase insulin receptor genes. The protein encoded by this gene is a type I integral membrane protein with tyrosine kinase activity. The protein may function as a growth or differentiation factor receptor. [provided by RefSeq, Jul 2008]
RP1	chr8	54554361	54871720	+	ENSG00000104237.7	protein_coding	DCDC4A|ORP1	8q11.23-q12.1	RP1 axonemal microtubule associated	This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[provided by RefSeq, Sep 2010]
RP1-101K10.6	chr6	152983331	152990541	+	ENSG00000227627.2	antisense	-	-	-	-
RP1-102D24.5	chr22	45435864	45448743	-	ENSG00000232363.1	antisense	-	-	-	-
RP1-102E24.8	chr12	6393905	6396148	+	ENSG00000256433.2	lincRNA	-	-	-	-
RP1-102H19.7	chr6	87356831	87358605	+	ENSG00000279616.1	TEC	-	-	-	-
RP1-104O17.3	chr6	97710953	97717197	-	ENSG00000226207.1	lincRNA	-	-	-	-
RP1-111B22.3	chr6	108030249	108030718	-	ENSG00000271734.1	lincRNA	-	-	-	-
RP1-111C20.4	chr6	158988178	159064925	+	ENSG00000271913.5	antisense	-	-	-	-
RP1-117P20.3	chr1	169762929	169764648	-	ENSG00000230704.1	lincRNA	-	-	-	-
RP1-120G22.11	chr1	6204840	6205780	-	ENSG00000226944.1	antisense	-	-	-	-
RP1-124C6.1	chr6	113428540	113433421	-	ENSG00000232316.1	lincRNA	-	-	-	-
RP1-125I3.2	chr1	25859613	25863420	+	ENSG00000236528.1	antisense	-	-	-	-
RP1-125I3.4	chr1	25888970	25889109	+	ENSG00000223624.1	processed_pseudogene	-	-	-	-
RP1-127B20.4	chr22	44901547	44902471	+	ENSG00000223730.1	transcribed_processed_pseudogene	-	-	-	-
RP1-127D3.4	chr1	171199244	171227788	-	ENSG00000225243.5	antisense	-	-	-	-
RP1-128M12.3	chr12	112000739	112000985	-	ENSG00000257624.1	processed_pseudogene	-	-	-	-
RP1-128O3.5	chr6	108252214	108252400	+	ENSG00000233511.1	processed_pseudogene	-	-	-	-
RP1-128O3.6	chr6	108318079	108318404	+	ENSG00000238055.1	processed_pseudogene	-	-	-	-
RP1-12G14.7	chr6	149591755	149592663	-	ENSG00000233330.1	antisense	-	-	-	-
RP1-130G2.1	chr6	20042455	20042940	-	ENSG00000229700.1	processed_pseudogene	-	-	-	-
RP1-140A9.1	chr1	1891471	1892658	+	ENSG00000231050.1	antisense	-	-	-	-
RP1-140C12.2	chr6	170414139	170419325	+	ENSG00000261003.1	sense_overlapping	-	-	-	-
RP1-140J1.4	chr1	153225080	153226006	+	ENSG00000230779.1	processed_pseudogene	-	-	-	-
RP1-149A16.16	chr22	32386668	32386868	+	ENSG00000232218.1	unprocessed_pseudogene	-	-	-	-
RP1-150O5.3	chr1	23549139	23550915	-	ENSG00000235052.1	lincRNA	-	-	-	-
RP1-151B14.9	chr22	37215738	37215891	-	ENSG00000226233.1	processed_pseudogene	-	-	-	-
RP1-151F17.1	chr6	16761138	16762652	+	ENSG00000229931.1	antisense	-	-	-	-
RP1-151F17.2	chr6	16764346	16766883	+	ENSG00000272341.1	lincRNA	-	-	-	-
RP1-152L7.5	chr6	52665148	52669155	+	ENSG00000216775.2	transcribed_unprocessed_pseudogene	-	-	-	-
RP1-152L7.8	chr6	52688661	52688998	+	ENSG00000271227.1	processed_pseudogene	-	-	-	-
RP1-153G14.4	chr6	27404010	27406964	-	ENSG00000271755.1	lincRNA	-	-	-	-
RP1-153P14.5	chr6	37545145	37550860	+	ENSG00000227920.2	lincRNA	-	-	-	-
RP1-153P14.7	chr6	37567716	37571460	+	ENSG00000279942.1	TEC	-	-	-	-
RP1-153P14.8	chr6	37507348	37535616	+	ENSG00000204110.6	lincRNA	-	-	-	-
RP1-15D23.2	chr1	172775905	173064015	+	ENSG00000224228.2	lincRNA	-	-	-	-
RP1-161P9.5	chr17	35757199	35758325	-	ENSG00000271392.1	sense_intronic	-	-	-	-
RP1-163M9.7	chr1	16701546	16705594	+	ENSG00000279151.1	lincRNA	-	-	-	-
RP1-166H4.2	chr6	45573346	45576770	-	ENSG00000261080.1	lincRNA	-	-	-	-
RP1-167A14.2	chr6	166969626	166999065	-	ENSG00000227598.1	antisense	-	-	-	-
RP1-168P16.1	chr16	89420075	89422226	-	ENSG00000261692.1	sense_intronic	-	-	-	-
RP1-168P16.2	chr16	89392375	89412564	-	ENSG00000261574.1	sense_intronic	-	-	-	-
RP1-170O19.17	chr7	27239243	27241228	-	ENSG00000253308.2	lincRNA	-	-	-	-
RP1-178F10.1	chr17	18268080	18268828	+	ENSG00000260647.1	antisense	-	-	-	-
RP1-178F15.4	chr1	153631438	153634397	-	ENSG00000272030.1	antisense	-	-	-	-
RP1-178F15.5	chr1	153626332	153634340	-	ENSG00000271853.5	processed_transcript	-	-	-	-
RP1-179N16.3	chr6	36091991	36092646	-	ENSG00000237719.1	processed_pseudogene	-	-	-	-
RP1-179N16.6	chr6	36146698	36197205	-	ENSG00000246982.6	antisense	-	-	-	-
RP1-184J9.2	chr1	23020147	23088058	-	ENSG00000240553.1	antisense	-	-	-	-
RP1-187B23.1	chr1	25644544	25659111	-	ENSG00000233478.1	antisense	-	-	-	-
RP1-18D14.7	chr1	47225797	47230750	+	ENSG00000226252.1	antisense	-	-	-	-
RP1-190J20.2	chr6	15102946	15104130	-	ENSG00000216754.2	processed_pseudogene	-	-	-	-
RP1-191J18.66	chr6	107957413	107959986	+	ENSG00000272476.1	antisense	-	-	-	-
RP1-193H18.2	chr17	69551358	69553861	+	ENSG00000267194.1	lincRNA	-	-	-	-
RP1-193H18.3	chr17	69477139	69501755	-	ENSG00000267653.1	lincRNA	-	-	-	-
RP1-197B17.3	chr12	47706085	47742294	+	ENSG00000257433.5	antisense	-	-	-	-
RP1-197B17.4	chr12	47731908	47732351	+	ENSG00000274902.1	lincRNA	-	-	-	-
RP1-197B17.7	chr12	47728151	47730598	-	ENSG00000280054.1	TEC	-	-	-	-
RP1-198K11.5	chr20	21302731	21303704	-	ENSG00000275457.1	antisense	-	-	-	-
RP1-199J3.5	chr6	99575712	99576456	+	ENSG00000219755.1	processed_pseudogene	-	-	-	-
RP1-202O8.2	chr1	6443034	6447006	-	ENSG00000231868.1	antisense	-	-	-	-
RP1-206D15.6	chr1	169486076	169486986	+	ENSG00000213062.4	lincRNA	-	-	-	-
RP1-20B11.2	chr6	524171	525581	+	ENSG00000230433.1	antisense	-	-	-	-
RP1-20B21.4	chr1	17406760	17407382	+	ENSG00000227751.1	antisense	-	-	-	-
RP1-20C7.6	chr6	43033897	43034405	-	ENSG00000272223.1	antisense	-	-	-	-
RP1-213J1P__B.1	chr22	27676559	27714970	-	ENSG00000227838.1	lincRNA	-	-	-	-
RP1-221C16.8	chr6	26160765	26172802	-	ENSG00000283064.1	antisense	-	-	-	-
RP1-224A6.8	chr1	22068340	22068827	-	ENSG00000271428.1	processed_pseudogene	-	-	-	-
RP1-224A6.9	chr1	22100613	22101360	+	ENSG00000271840.1	lincRNA	-	-	-	-
RP1-225E12.2	chr6	139144204	139239653	-	ENSG00000231329.7	antisense	-	-	-	-
RP1-228H13.5	chr1	40464319	40466767	+	ENSG00000260920.2	sense_overlapping	-	-	-	-
RP1-228P16.1	chr12	48054813	48055591	-	ENSG00000240399.1	transcribed_processed_pseudogene	-	-	-	-
RP1-228P16.3	chr12	48005277	48011227	-	ENSG00000258203.5	lincRNA	-	-	-	-
RP1-228P16.8	chr12	48039784	48040761	-	ENSG00000276814.1	lincRNA	-	-	-	-
RP1-228P16.9	chr12	47960497	47963469	-	ENSG00000279840.1	TEC	-	-	-	-
RP1-229K20.5	chr6	41269875	41270239	-	ENSG00000218809.1	unprocessed_pseudogene	-	-	-	-
RP1-232L24.3	chr6	79420297	79421305	+	ENSG00000231533.1	lincRNA	-	-	-	-
RP1-239B22.5	chr11	17380649	17383531	+	ENSG00000260196.1	antisense	-	-	-	-
RP1-240K6.3	chr14	73462423	73477175	+	ENSG00000251393.3	processed_transcript	-	-	-	-
RP1-244F24.1	chr6	45421079	45422005	-	ENSG00000271857.1	antisense	-	-	-	-
RP1-249I4.2	chr6	109826522	109828785	+	ENSG00000232311.1	lincRNA	-	-	-	-
RP1-253P7.4	chr17	17858227	17860041	+	ENSG00000197815.4	antisense	-	-	-	-
RP1-257A7.4	chr6	13264861	13295586	-	ENSG00000215022.7	antisense	-	-	-	-
RP1-257A7.5	chr6	13290018	13290490	-	ENSG00000272379.1	lincRNA	-	-	-	-
RP1-257I20.14	chr22	42089630	42090028	-	ENSG00000270083.1	sense_intronic	-	-	-	-
RP1-261D10.2	chr14	71292729	71321814	-	ENSG00000259146.3	antisense	-	-	-	-
RP1-261G23.5	chr6	43722786	43737834	-	ENSG00000236961.1	lincRNA	-	-	-	-
RP1-265C24.8	chr6	28136849	28139678	+	ENSG00000261839.1	lincRNA	-	-	-	-
RP1-267D11.6	chr12	120116907	120119000	+	ENSG00000277283.1	antisense	-	-	-	-
RP1-272L16.1	chr1	209528455	209567673	-	ENSG00000224260.6	lincRNA	-	-	-	-
RP1-276N6.2	chr6	160272617	160276130	+	ENSG00000230234.1	lincRNA	-	-	-	-
RP1-278C19.8	chr12	120224744	120225421	+	ENSG00000275936.1	antisense	-	-	-	-
RP1-278E11.3	chr6	39958414	39958833	-	ENSG00000180211.5	processed_pseudogene	-	-	-	-
RP1-278O22.2	chr20	10753278	10765286	-	ENSG00000234900.1	lincRNA	-	-	-	-
RP1-281H8.3	chr6	149491567	149492289	-	ENSG00000219553.2	processed_pseudogene	-	-	-	-
RP1-283E3.4	chr1	1724512	1737251	+	ENSG00000227775.3	transcribed_processed_pseudogene	-	-	-	-
RP1-283K11.2	chr6	133452857	133456605	-	ENSG00000234567.1	antisense	-	-	-	-
RP1-283K11.3	chr6	133435077	133439464	-	ENSG00000223542.1	antisense	-	-	-	-
RP1-286D6.5	chr1	3785008	3785538	+	ENSG00000272153.1	antisense	-	-	-	-
RP1-28C20.1	chr6	145489630	145492092	-	ENSG00000217612.2	processed_pseudogene	-	-	-	-
RP1-28O10.1	chr1	209661364	209724125	-	ENSG00000227591.5	antisense	-	-	-	-
RP1-292B18.1	chr6	151099529	151099933	+	ENSG00000219747.1	processed_pseudogene	-	-	-	-
RP1-292B18.4	chr6	151088103	151228447	-	ENSG00000223598.1	antisense	-	-	-	-
RP1-292L20.3	chr14	70906657	70907111	-	ENSG00000274818.1	lincRNA	-	-	-	-
RP1-293L8.2	chr6	125674353	125720218	+	ENSG00000224506.2	lincRNA	-	-	-	-
RP1-296L11.1	chr11	31305685	31314548	+	ENSG00000255525.1	antisense	-	-	-	-
RP1-29C18.10	chr22	49548681	49556473	+	ENSG00000212939.2	lincRNA	-	-	-	-
RP1-29C18.8	chr22	49612657	49615716	-	ENSG00000235111.1	sense_intronic	-	-	-	-
RP1-29C18.9	chr22	49572264	49575426	-	ENSG00000213279.2	lincRNA	-	-	-	-
RP1-302G2.5	chr6	44216939	44218236	+	ENSG00000262179.2	protein_coding	-	-	-	-
RP1-303A1.1	chr6	7938430	7939322	-	ENSG00000217746.1	processed_pseudogene	-	-	-	-
RP1-309F20.3	chr20	58863528	58888809	-	ENSG00000225806.7	antisense	-	-	-	-
RP1-309F20.4	chr20	58876592	58876981	-	ENSG00000270951.1	antisense	-	-	-	-
RP1-30M3.5	chr6	24700907	24701793	-	ENSG00000272345.1	antisense	-	-	-	-
RP1-310O13.7	chr20	32027753	32031575	-	ENSG00000226239.1	antisense	-	-	-	-
RP1-313I6.12	chr6	28078792	28081130	-	ENSG00000272009.1	antisense	-	-	-	-
RP1-317E23.3	chr1	25816749	25820797	-	ENSG00000228172.5	antisense	-	-	-	-
RP1-317E23.7	chr1	25831913	25832134	-	ENSG00000272478.1	antisense	-	-	-	-
RP1-34B20.4	chr6	26202156	26202654	+	ENSG00000217275.2	processed_pseudogene	-	-	-	-
RP1-37C10.3	chr1	16978926	17005091	+	ENSG00000226526.1	antisense	-	-	-	-
RP1-37J18.1	chr1	4551735	4552145	-	ENSG00000227169.2	lincRNA	-	-	-	-
RP1-37N7.1	chr17	18379855	18388984	-	ENSG00000264177.1	antisense	-	-	-	-
RP1-37N7.7	chr17	18390153	18390323	-	ENSG00000275206.1	unprocessed_pseudogene	-	-	-	-
RP1-38C16.2	chr6	135629405	135630268	-	ENSG00000233534.1	lincRNA	-	-	-	-
RP1-40G4P.1	chr22	26886909	26887548	-	ENSG00000231369.1	processed_pseudogene	-	-	-	-
RP1-41C23.1	chr17	31583162	31637543	+	ENSG00000266877.1	lincRNA	-	-	-	-
RP1-43E13.2	chr1	19210501	19240704	+	ENSG00000230424.1	antisense	-	-	-	-
RP1-46F2.3	chr12	110951683	110957812	-	ENSG00000258240.5	lincRNA	-	-	-	-
RP1-47A17.1	chr22	42791814	42794313	-	ENSG00000274717.1	processed_pseudogene	-	-	-	-
RP1-47M23.3	chr6	107697299	107700218	-	ENSG00000280135.1	TEC	-	-	-	-
RP1-4G17.2	chr17	7282947	7284071	-	ENSG00000263342.1	antisense	-	-	-	-
RP1-50J22.4	chr6	36386831	36393462	+	ENSG00000224666.3	antisense	-	-	-	-
RP1-50O24.6	chr1	26876133	26878245	+	ENSG00000226698.1	antisense	-	-	-	-
RP1-53O8.2	chr12	2217462	2217920	-	ENSG00000278255.1	antisense	-	-	-	-
RP1-56K13.2	chr17	38903704	38904600	-	ENSG00000263466.1	antisense	-	-	-	-
RP1-56K13.3	chr17	38918801	38921769	-	ENSG00000265784.1	antisense	-	-	-	-
RP1-56K13.5	chr17	39003248	39013032	-	ENSG00000266588.1	lincRNA	-	-	-	-
RP1-59D14.1	chr17	2384847	2386664	+	ENSG00000262456.1	antisense	-	-	-	-
RP1-59D14.10	chr17	2366589	2366791	-	ENSG00000274758.1	antisense	-	-	-	-
RP1-59D14.5	chr17	2375061	2379306	-	ENSG00000263345.1	antisense	-	-	-	-
RP1-59M18.2	chr11	18000542	18022931	-	ENSG00000255448.1	processed_transcript	-	-	-	-
RP1-5O6.5	chr22	38231320	38232248	+	ENSG00000235246.1	antisense	-	-	-	-
RP1-63M2.7	chr20	33655701	33656423	-	ENSG00000275223.1	lincRNA	-	-	-	-
RP1-68D18.3	chr11	35281813	35286009	+	ENSG00000255004.1	antisense	-	-	-	-
RP1-68D18.4	chr11	35210343	35214985	-	ENSG00000255443.1	antisense	-	-	-	-
RP1-69D17.3	chr6	129479615	129481410	-	ENSG00000233351.1	antisense	-	-	-	-
RP1-69D17.4	chr6	129526626	129552587	-	ENSG00000226149.5	lincRNA	-	-	-	-
RP1-76B20.11	chr22	29705256	29719859	-	ENSG00000232396.2	antisense	-	-	-	-
RP1-79C4.4	chr1	170667381	170669425	+	ENSG00000271811.1	lincRNA	-	-	-	-
RP1-80N2.2	chr6	6692744	6711002	-	ENSG00000226281.2	lincRNA	-	-	-	-
RP1-80N2.3	chr6	6680309	6683633	-	ENSG00000261211.1	lincRNA	-	-	-	-
RP1-80N2.4	chr6	6685148	6686984	+	ENSG00000279368.1	TEC	-	-	-	-
RP1-81D8.3	chr6	160698288	160700632	+	ENSG00000224477.5	lincRNA	-	-	-	-
RP1-86C11.7	chr6	27122657	27123221	-	ENSG00000272468.1	lincRNA	-	-	-	-
RP1-90G24.6	chr22	32273420	32277186	+	ENSG00000224050.1	lincRNA	-	-	-	-
RP1-92O14.3	chr1	43354684	43358658	-	ENSG00000234694.1	antisense	-	-	-	-
RP1-92O14.6	chr1	43385113	43389155	+	ENSG00000229431.1	antisense	-	-	-	-
RP1-93H18.1	chr6	116280199	116370273	+	ENSG00000240050.5	lincRNA	-	-	-	-
RP1-95L4.4	chr6	143342246	143343383	+	ENSG00000217648.1	processed_pseudogene	-	-	-	-
RP1-97J1.2	chr6	111900489	111901851	-	ENSG00000227012.2	lincRNA	-	-	-	-
RP11-1006G14.1	chr15	72615810	72618250	+	ENSG00000260672.1	lincRNA	-	-	-	-
RP11-1006G14.2	chr15	72608481	72636919	-	ENSG00000259783.5	lincRNA	-	-	-	-
RP11-100E13.1	chr1	224611404	224616220	-	ENSG00000233384.2	bidirectional_promoter_lncRNA	-	-	-	-
RP11-100K18.1	chr18	78137223	78140887	+	ENSG00000266213.1	lincRNA	-	-	-	-
RP11-100L22.1	chr8	92668836	92679594	+	ENSG00000253177.1	lincRNA	-	-	-	-
RP11-100N21.1	chr4	47706372	47706987	+	ENSG00000242262.1	processed_pseudogene	-	-	-	-
RP11-1017G21.3	chr14	101969364	101969601	-	ENSG00000259013.2	processed_pseudogene	-	-	-	-
RP11-1017G21.4	chr14	102036315	102066228	-	ENSG00000258959.1	antisense	-	-	-	-
RP11-1017G21.5	chr14	101948347	101949425	+	ENSG00000271780.1	lincRNA	-	-	-	-
RP11-1017G21.6	chr14	101952416	101953063	+	ENSG00000272444.1	lincRNA	-	-	-	-
RP11-1018J11.1	chr12	16989126	16989936	+	ENSG00000256211.1	processed_pseudogene	-	-	-	-
RP11-101E7.2	chr16	22083256	22092231	-	ENSG00000260277.1	antisense	-	-	-	-
RP11-101K23.1	chr12	46004038	46004685	-	ENSG00000239397.1	processed_pseudogene	-	-	-	-
RP11-1020A11.1	chr3	9935706	9936258	+	ENSG00000269894.1	sense_intronic	-	-	-	-
RP11-1020A11.2	chr3	9958717	9962539	+	ENSG00000269982.1	antisense	-	-	-	-
RP11-1026M7.2	chr5	177782197	177794396	+	ENSG00000249109.1	antisense	-	-	-	-
RP11-1029F8.1	chr12	64032412	64032665	+	ENSG00000255780.1	processed_pseudogene	-	-	-	-
RP11-1029M24.1	chr3	48120669	48121215	-	ENSG00000236768.1	processed_pseudogene	-	-	-	-
RP11-102L12.2	chr15	38502853	38504981	+	ENSG00000259326.1	antisense	-	-	-	-
RP11-102M11.1	chr3	136736500	136737229	-	ENSG00000240695.1	processed_pseudogene	-	-	-	-
RP11-102M11.2	chr3	136752630	136755780	+	ENSG00000261758.1	antisense	-	-	-	-
RP11-1036E20.9	chr11	59268876	59284033	-	ENSG00000214797.3	lincRNA	-	-	-	-
RP11-1038A11.3	chr12	5290480	5383653	+	ENSG00000256417.1	lincRNA	-	-	-	-
RP11-103B5.4	chr12	117002463	117003152	+	ENSG00000277840.1	sense_intronic	-	-	-	-
RP11-103J8.1	chr20	10672928	10994924	+	ENSG00000270792.5	antisense	-	-	-	-
RP11-103J8.2	chr20	11001304	11001763	+	ENSG00000270777.1	lincRNA	-	-	-	-
RP11-1042B17.1	chr14	60572024	60572311	-	ENSG00000244756.1	processed_pseudogene	-	-	-	-
RP11-1042B17.3	chr14	60515119	60554916	+	ENSG00000258670.1	antisense	-	-	-	-
RP11-104H15.12	chr17	7428903	7432762	+	ENSG00000283439.1	protein_coding	-	-	-	-
RP11-104H15.7	chr17	7420103	7444081	+	ENSG00000262880.1	processed_transcript	-	-	-	-
RP11-104H15.8	chr17	7439159	7443327	-	ENSG00000263301.1	antisense	-	-	-	-
RP11-104L21.2	chr1	167457383	167458661	-	ENSG00000233411.1	sense_intronic	-	-	-	-
RP11-104L21.3	chr1	167457742	167459891	-	ENSG00000273160.1	lincRNA	-	-	-	-
RP11-104N10.1	chr16	89492017	89504460	-	ENSG00000261118.1	antisense	-	-	-	-
RP11-104N10.2	chr16	89516797	89522217	+	ENSG00000274627.1	sense_intronic	-	-	-	-
RP11-104O19.4	chr17	4267691	4268430	+	ENSG00000274363.1	lincRNA	-	-	-	-
RP11-1055B8.1	chr17	81395609	81397144	-	ENSG00000279692.1	TEC	-	-	-	-
RP11-1055B8.10	chr17	81387415	81387766	+	ENSG00000274833.1	lincRNA	-	-	-	-
RP11-1055B8.2	chr17	81362272	81374214	+	ENSG00000263154.1	lincRNA	-	-	-	-
RP11-1055B8.3	chr17	81376001	81385360	-	ENSG00000262223.6	lincRNA	-	-	-	-
RP11-1055B8.4	chr17	81388126	81390256	-	ENSG00000262877.4	lincRNA	-	-	-	-
RP11-1058N17.1	chr18	48962951	48963941	-	ENSG00000266905.1	lincRNA	-	-	-	-
RP11-105N14.1	chr2	213152970	213153659	+	ENSG00000270659.1	lincRNA	-	-	-	-
RP11-1060G2.1	chr12	93894965	93943603	-	ENSG00000257283.1	antisense	-	-	-	-
RP11-1060G2.2	chr12	93945041	93947813	+	ENSG00000271382.1	lincRNA	-	-	-	-
RP11-1060J15.4	chr12	27696388	27710770	-	ENSG00000256377.5	antisense	-	-	-	-
RP11-1060J15.5	chr12	27702338	27702906	+	ENSG00000230519.2	processed_pseudogene	-	-	-	-
RP11-1069G10.1	chr15	62827675	62884034	-	ENSG00000259370.2	antisense	-	-	-	-
RP11-106D4.2	chr16	87470370	87474370	-	ENSG00000276337.1	sense_intronic	-	-	-	-
RP11-1070N10.3	chr14	95516136	95517911	+	ENSG00000258572.1	lincRNA	-	-	-	-
RP11-1072A3.3	chr16	30984630	30988270	-	ENSG00000279196.1	TEC	-	-	-	-
RP11-1072A3.4	chr16	30956872	30957199	-	ENSG00000275263.1	lincRNA	-	-	-	-
RP11-1072C15.1	chr17	44719760	44720597	-	ENSG00000240305.1	processed_pseudogene	-	-	-	-
RP11-1072C15.4	chr17	44673689	44676257	-	ENSG00000267160.1	antisense	-	-	-	-
RP11-1072C15.6	chr17	44689858	44693340	+	ENSG00000279879.1	TEC	-	-	-	-
RP11-1079K10.1	chr17	49400429	49400800	-	ENSG00000186244.7	processed_pseudogene	-	-	-	-
RP11-1079K10.2	chr17	49375380	49380094	+	ENSG00000250948.1	antisense	-	-	-	-
RP11-1079K10.3	chr17	49361165	49369998	+	ENSG00000248714.6	lincRNA	-	-	-	-
RP11-1079K10.4	chr17	49404081	49405197	+	ENSG00000250186.3	antisense	-	-	-	-
RP11-107E5.4	chr2	144444848	144450450	+	ENSG00000283118.1	antisense	-	-	-	-
RP11-107F6.3	chr15	41770756	41772732	-	ENSG00000260814.2	lincRNA	-	-	-	-
RP11-107M16.2	chr1	152205858	152207057	+	ENSG00000236427.1	lincRNA	-	-	-	-
RP11-1081L13.4	chr11	18706537	18740568	+	ENSG00000254966.1	antisense	-	-	-	-
RP11-108F13.2	chr1	229688999	229689904	-	ENSG00000213028.3	processed_pseudogene	-	-	-	-
RP11-108K3.1	chr15	51037488	51293912	+	ENSG00000259240.1	lincRNA	-	-	-	-
RP11-108K3.2	chr15	51315841	51321996	+	ENSG00000259306.2	lincRNA	-	-	-	-
RP11-108K3.4	chr15	51367377	51369110	+	ENSG00000259194.1	sense_intronic	-	-	-	-
RP11-108L7.14	chr10	100967688	100968135	+	ENSG00000273476.1	lincRNA	-	-	-	-
RP11-108M9.1	chr1	16851257	16853129	-	ENSG00000223643.6	lincRNA	-	-	-	-
RP11-108M9.3	chr1	16870945	16874092	+	ENSG00000228549.3	lincRNA	-	-	-	-
RP11-108M9.4	chr1	16888538	16889649	-	ENSG00000238142.1	lincRNA	-	-	-	-
RP11-108M9.5	chr1	16889095	16889602	+	ENSG00000235241.1	processed_pseudogene	-	-	-	-
RP11-108M9.6	chr1	16904339	16904776	-	ENSG00000272426.1	lincRNA	-	-	-	-
RP11-108O10.2	chr11	111768668	111778350	-	ENSG00000254990.5	lincRNA	-	-	-	-
RP11-1094M14.5	chr17	35499690	35510270	-	ENSG00000267074.1	sense_intronic	-	-	-	-
RP11-1094M14.7	chr17	35459481	35460550	-	ENSG00000267312.1	processed_pseudogene	-	-	-	-
RP11-1094M14.8	chr17	35498218	35499175	+	ENSG00000267369.1	processed_pseudogene	-	-	-	-
RP11-1096G20.5	chr17	11953889	11977594	-	ENSG00000266368.1	antisense	-	-	-	-
RP11-1099M24.6	chr17	7858943	7866083	+	ENSG00000280046.1	TEC	-	-	-	-
RP11-109L13.1	chr11	117135528	117138582	+	ENSG00000254851.1	unprocessed_pseudogene	-	-	-	-
RP11-109L13.5	chr11	117143891	117144191	-	ENSG00000254678.1	processed_pseudogene	-	-	-	-
RP11-109N23.4	chr14	73057925	73059415	-	ENSG00000258813.2	antisense	-	-	-	-
RP11-109N23.6	chr14	72960595	72961993	+	ENSG00000259015.1	processed_pseudogene	-	-	-	-
RP11-109P14.10	chr1	37860697	37861580	+	ENSG00000230955.1	antisense	-	-	-	-
RP11-109P14.9	chr1	37799720	37800879	-	ENSG00000233728.1	antisense	-	-	-	-
RP11-10A14.3	chr8	9141424	9145435	+	ENSG00000254340.1	antisense	-	-	-	-
RP11-10A14.4	chr8	9151742	9168136	+	ENSG00000253426.5	lincRNA	-	-	-	-
RP11-10A14.5	chr8	9189011	9202854	+	ENSG00000248538.6	lincRNA	-	-	-	-
RP11-10A14.7	chr8	9255349	9260295	-	ENSG00000253887.1	lincRNA	-	-	-	-
RP11-10A14.9	chr8	9158063	9158621	+	ENSG00000279949.1	lincRNA	-	-	-	-
RP11-10A7.1	chr11	109486968	109487424	-	ENSG00000254890.1	processed_pseudogene	-	-	-	-
RP11-10C24.2	chr3	33793644	33794145	-	ENSG00000271324.1	lincRNA	-	-	-	-
RP11-10C8.2	chr8	13338574	13342754	+	ENSG00000253932.1	antisense	-	-	-	-
RP11-10J18.3	chr9	124514938	124516056	-	ENSG00000231149.2	lincRNA	-	-	-	-
RP11-10J21.2	chr8	141224288	141226947	-	ENSG00000280035.1	TEC	-	-	-	-
RP11-10J21.3	chr8	141254565	141256817	+	ENSG00000254019.1	antisense	-	-	-	-
RP11-10J21.4	chr8	141252286	141253292	-	ENSG00000253307.1	antisense	-	-	-	-
RP11-10L12.1	chr4	102734358	102734612	+	ENSG00000224207.3	processed_pseudogene	-	-	-	-
RP11-10L12.2	chr4	102751401	102752641	+	ENSG00000251288.2	processed_pseudogene	-	-	-	-
RP11-10L12.4	chr4	102828055	102844075	+	ENSG00000246560.2	antisense	-	-	-	-
RP11-10L7.1	chr4	88284942	88331421	+	ENSG00000246375.2	lincRNA	-	-	-	-
RP11-10N16.3	chr1	24307556	24321901	-	ENSG00000232298.2	antisense	-	-	-	-
RP11-10O17.1	chr15	74478070	74490286	-	ENSG00000260103.2	transcribed_processed_pseudogene	-	-	-	-
RP11-10O22.1	chr3	163026396	163232149	+	ENSG00000241168.1	lincRNA	-	-	-	-
RP11-1101H11.1	chr5	177682294	177713969	+	ENSG00000249849.1	antisense	-	-	-	-
RP11-1101K5.1	chr8	111376639	111542973	+	ENSG00000253434.5	lincRNA	-	-	-	-
RP11-1102P16.1	chr8	71403440	71592025	-	ENSG00000253379.5	lincRNA	-	-	-	-
RP11-1105G2.3	chr12	94277758	94282844	-	ENSG00000258365.1	antisense	-	-	-	-
RP11-1105O14.1	chr8	19678572	19688934	+	ENSG00000253270.1	lincRNA	-	-	-	-
RP11-1109F11.3	chr12	89367807	89369301	+	ENSG00000271327.1	lincRNA	-	-	-	-
RP11-1109F11.5	chr12	89371820	89372359	+	ENSG00000271259.1	lincRNA	-	-	-	-
RP11-110G21.1	chr8	51899325	51947173	+	ENSG00000228801.5	antisense	-	-	-	-
RP11-110H1.4	chr18	49484536	49486149	-	ENSG00000263916.1	sense_intronic	-	-	-	-
RP11-110H1.8	chr18	49499390	49501860	+	ENSG00000264464.1	lincRNA	-	-	-	-
RP11-110H1.9	chr18	49431744	49447420	-	ENSG00000263895.1	sense_intronic	-	-	-	-
RP11-110I1.12	chr11	118994824	118998004	-	ENSG00000255121.2	lincRNA	-	-	-	-
RP11-110I1.13	chr11	119067374	119067698	-	ENSG00000272186.1	antisense	-	-	-	-
RP11-110I1.14	chr11	119065263	119065677	-	ENSG00000271751.1	lincRNA	-	-	-	-
RP11-110J1.2	chr1	157059232	157060762	-	ENSG00000237842.2	processed_pseudogene	-	-	-	-
RP11-1113L8.1	chr17	19560111	19597922	-	ENSG00000262769.1	antisense	-	-	-	-
RP11-111A22.1	chr15	40488041	40558019	+	ENSG00000259536.5	antisense	-	-	-	-
RP11-111A24.2	chr11	43063637	43065932	-	ENSG00000271028.1	processed_pseudogene	-	-	-	-
RP11-111K18.2	chr7	42901272	42902639	-	ENSG00000261019.1	lincRNA	-	-	-	-
RP11-111M22.2	chr11	76381313	76414619	+	ENSG00000179240.9	protein_coding	-	-	-	-
RP11-111M22.3	chr11	76441338	76444656	-	ENSG00000255135.3	lincRNA	-	-	-	-
RP11-111M22.4	chr11	76389648	76390128	+	ENSG00000272301.1	lincRNA	-	-	-	-
RP11-111M22.5	chr11	76392196	76392905	+	ENSG00000271757.1	lincRNA	-	-	-	-
RP11-112J3.16	chr9	35772163	35790432	+	ENSG00000227388.2	lincRNA	-	-	-	-
RP11-112L6.2	chr20	50166362	50171742	+	ENSG00000234698.1	lincRNA	-	-	-	-
RP11-112L6.3	chr20	50162765	50166102	-	ENSG00000237595.3	lincRNA	-	-	-	-
RP11-112L7.1	chr5	42188266	42191523	+	ENSG00000260786.1	lincRNA	-	-	-	-
RP11-112N23.1	chr12	50365652	50366086	+	ENSG00000244266.1	processed_pseudogene	-	-	-	-
RP11-1134I14.4	chr8	47189305	47189560	+	ENSG00000254348.1	processed_pseudogene	-	-	-	-
RP11-1134I14.6	chr8	47198032	47198323	-	ENSG00000253817.1	processed_pseudogene	-	-	-	-
RP11-1134I14.8	chr8	47190772	47193262	+	ENSG00000255366.1	lincRNA	-	-	-	-
RP11-113A11.1	chr3	158275809	158276421	-	ENSG00000241723.1	processed_pseudogene	-	-	-	-
RP11-1143G9.4	chr12	69353493	69354225	-	ENSG00000257764.2	antisense	-	-	-	-
RP11-1143G9.5	chr12	69326574	69331882	-	ENSG00000274979.1	lincRNA	-	-	-	-
RP11-1148O4.1	chr17	30068632	30069631	+	ENSG00000266876.1	transcribed_processed_pseudogene	-	-	-	-
RP11-1148O4.2	chr17	30090366	30117497	-	ENSG00000265394.1	antisense	-	-	-	-
RP11-1149O23.3	chr8	23224471	23230926	+	ENSG00000246582.2	processed_transcript	-	-	-	-
RP11-114F3.5	chr12	64442510	64443330	-	ENSG00000255566.1	processed_pseudogene	-	-	-	-
RP11-114G22.1	chr12	22699859	23174125	+	ENSG00000256995.6	lincRNA	-	-	-	-
RP11-114H24.2	chr15	77914217	77926846	-	ENSG00000260776.5	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-114H24.4	chr15	77941442	77944582	-	ENSG00000214646.8	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-114H24.6	chr15	77993405	77995289	+	ENSG00000259792.1	antisense	-	-	-	-
RP11-114H7.1	chr5	130989897	130990428	+	ENSG00000244192.1	processed_pseudogene	-	-	-	-
RP11-114H7.2	chr5	130994253	130996164	+	ENSG00000250405.2	processed_pseudogene	-	-	-	-
RP11-114M1.1	chr3	177683627	177691250	+	ENSG00000228561.2	lincRNA	-	-	-	-
RP11-114M5.1	chr8	58424588	58426685	-	ENSG00000250031.1	processed_pseudogene	-	-	-	-
RP11-114N19.3	chr14	81107033	81170414	-	ENSG00000258999.1	antisense	-	-	-	-
RP11-1151B14.4	chr18	58535415	58538552	+	ENSG00000267257.1	antisense	-	-	-	-
RP11-115D7.3	chr1	40132764	40133448	+	ENSG00000226745.2	processed_pseudogene	-	-	-	-
RP11-115J16.1	chr8	9249417	9413714	+	ENSG00000254235.5	lincRNA	-	-	-	-
RP11-115J16.2	chr8	9371970	9436205	-	ENSG00000254237.5	lincRNA	-	-	-	-
RP11-115J16.3	chr8	9351238	9358441	-	ENSG00000253735.1	lincRNA	-	-	-	-
RP11-115N12.1	chr18	42089312	42089752	+	ENSG00000267088.1	processed_pseudogene	-	-	-	-
RP11-115N4.1	chr7	91311368	91515409	+	ENSG00000243144.6	lincRNA	-	-	-	-
RP11-1167A19.2	chr11	66067277	66069619	-	ENSG00000255038.1	antisense	-	-	-	-
RP11-116B13.1	chr5	42729138	42729519	+	ENSG00000270513.1	processed_pseudogene	-	-	-	-
RP11-116B19.2	chr8	73590574	73590883	+	ENSG00000253383.1	processed_pseudogene	-	-	-	-
RP11-116D17.4	chr12	115318657	115320405	-	ENSG00000276308.1	lincRNA	-	-	-	-
RP11-116K4.1	chr18	54142133	54142577	+	ENSG00000264296.1	processed_pseudogene	-	-	-	-
RP11-1182P23.5	chr17	82035403	82035800	-	ENSG00000279372.1	TEC	-	-	-	-
RP11-118A3.1	chr12	43155315	43163110	+	ENSG00000258331.1	lincRNA	-	-	-	-
RP11-118B18.2	chr17	68793549	68797822	-	ENSG00000267250.1	lincRNA	-	-	-	-
RP11-1193F23.1	chr2	136230753	136233245	+	ENSG00000279024.1	TEC	-	-	-	-
RP11-1197K16.2	chr17	82978525	82981738	+	ENSG00000262339.5	antisense	-	-	-	-
RP11-119B16.2	chr20	3888239	3888868	-	ENSG00000229539.1	antisense	-	-	-	-
RP11-119D9.1	chr11	67886477	67906350	+	ENSG00000251637.6	lincRNA	-	-	-	-
RP11-119F7.5	chr10	68698500	68700794	+	ENSG00000260400.1	sense_overlapping	-	-	-	-
RP11-120B7.1	chr5	108593609	108593967	+	ENSG00000244245.1	processed_pseudogene	-	-	-	-
RP11-120C12.3	chr10	62289521	62304033	+	ENSG00000234756.1	lincRNA	-	-	-	-
RP11-120E11.2	chr14	93334528	93335057	+	ENSG00000278396.1	sense_intronic	-	-	-	-
RP11-120K18.2	chr16	31402565	31404699	+	ENSG00000260757.1	sense_overlapping	-	-	-	-
RP11-120K18.3	chr16	31361278	31361695	-	ENSG00000261245.2	unprocessed_pseudogene	-	-	-	-
RP11-120K24.4	chr13	113008778	113009424	+	ENSG00000269356.1	sense_intronic	-	-	-	-
RP11-120K9.2	chr15	50557601	50560500	+	ENSG00000259684.1	antisense	-	-	-	-
RP11-121A14.2	chr9	124259250	124261156	-	ENSG00000235204.1	antisense	-	-	-	-
RP11-121A14.3	chr9	124262876	124265809	+	ENSG00000227200.1	sense_intronic	-	-	-	-
RP11-122G18.10	chr1	161403409	161470523	-	ENSG00000283360.1	lincRNA	-	-	-	-
RP11-122G18.11	chr1	161433444	161440996	-	ENSG00000283317.1	lincRNA	-	-	-	-
RP11-122K13.7	chr10	133345754	133350726	-	ENSG00000226699.1	antisense	-	-	-	-
RP11-1236K1.8	chr8	12128107	12129298	-	ENSG00000254923.1	processed_pseudogene	-	-	-	-
RP11-123C5.5	chr16	69025860	69026643	-	ENSG00000271129.1	processed_pseudogene	-	-	-	-
RP11-123G9.1	chr10	58106423	58106879	-	ENSG00000232115.1	processed_pseudogene	-	-	-	-
RP11-123J14.4	chr4	76886029	76886370	-	ENSG00000270244.1	processed_pseudogene	-	-	-	-
RP11-123K19.1	chr9	126589594	126613700	-	ENSG00000224842.2	antisense	-	-	-	-
RP11-124D2.3	chr14	23356406	23357003	+	ENSG00000259018.1	antisense	-	-	-	-
RP11-124D2.7	chr14	23293852	23295798	+	ENSG00000270433.1	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-1250I15.3	chr5	34158121	34158767	+	ENSG00000271771.1	lincRNA	-	-	-	-
RP11-1263C18.1	chr4	573880	574412	-	ENSG00000273238.1	lincRNA	-	-	-	-
RP11-1267H10.1	chr4	68615393	68616137	-	ENSG00000251101.1	processed_pseudogene	-	-	-	-
RP11-1267H10.2	chr4	68614419	68615013	+	ENSG00000249472.1	processed_pseudogene	-	-	-	-
RP11-1267H10.3	chr4	68626847	68628899	-	ENSG00000251074.1	unprocessed_pseudogene	-	-	-	-
RP11-126H7.4	chr10	77866875	77869610	+	ENSG00000204049.1	antisense	-	-	-	-
RP11-126K1.2	chr1	151280024	151281929	-	ENSG00000232671.5	antisense	-	-	-	-
RP11-126K1.9	chr1	151327949	151328429	+	ENSG00000273481.1	lincRNA	-	-	-	-
RP11-1277A3.1	chr5	177611253	177619754	+	ENSG00000247679.2	antisense	-	-	-	-
RP11-1277A3.2	chr5	177619059	177672209	-	ENSG00000246596.6	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-1277A3.3	chr5	177554824	177555364	+	ENSG00000272459.1	lincRNA	-	-	-	-
RP11-127I20.5	chr16	4795265	4796532	-	ENSG00000267077.1	antisense	-	-	-	-
RP11-127I20.8	chr16	4839244	4840334	-	ENSG00000275056.1	sense_intronic	-	-	-	-
RP11-127L20.3	chr10	104323369	104327004	+	ENSG00000228261.1	lincRNA	-	-	-	-
RP11-1281K21.1	chr4	49238032	49245419	-	ENSG00000237961.4	processed_pseudogene	-	-	-	-
RP11-1281K21.2	chr4	49203171	49203726	-	ENSG00000249828.2	processed_pseudogene	-	-	-	-
RP11-128P10.1	chr12	107610034	107617721	-	ENSG00000257579.1	antisense	-	-	-	-
RP11-129J12.1	chr10	99526948	99528467	+	ENSG00000228778.2	lincRNA	-	-	-	-
RP11-129K12.1	chr3	36973117	36973672	-	ENSG00000272334.1	lincRNA	-	-	-	-
RP11-129M16.4	chr10	117267116	117268668	-	ENSG00000277879.1	antisense	-	-	-	-
RP11-12A2.1	chr6	139338018	139339580	+	ENSG00000218565.2	processed_pseudogene	-	-	-	-
RP11-12J10.4	chr10	124623353	124624079	+	ENSG00000278831.1	antisense	-	-	-	-
RP11-12M9.3	chr22	41064052	41064633	+	ENSG00000237214.3	processed_pseudogene	-	-	-	-
RP11-12M9.4	chr22	41074180	41075239	-	ENSG00000213857.3	processed_pseudogene	-	-	-	-
RP11-130L8.3	chr2	20529467	20529976	-	ENSG00000279307.2	processed_pseudogene	-	-	-	-
RP11-1319K7.1	chr5	70094659	70128434	-	ENSG00000179978.11	unprocessed_pseudogene	-	-	-	-
RP11-131H24.4	chr14	93939555	93944129	+	ENSG00000258987.1	antisense	-	-	-	-
RP11-131L12.4	chr12	118430147	118430699	+	ENSG00000275409.1	lincRNA	-	-	-	-
RP11-131N11.4	chr10	60734342	60741828	+	ENSG00000254271.1	lincRNA	-	-	-	-
RP11-132A1.4	chr7	101308346	101310985	+	ENSG00000232445.1	antisense	-	-	-	-
RP11-132E11.2	chr9	17018708	17112815	+	ENSG00000237153.2	lincRNA	-	-	-	-
RP11-132G19.3	chr1	21768269	21768575	+	ENSG00000231978.2	processed_pseudogene	-	-	-	-
RP11-132M7.2	chr6	84689292	84689429	-	ENSG00000219604.1	processed_pseudogene	-	-	-	-
RP11-1334A24.6	chr5	177494995	177503647	+	ENSG00000248996.1	antisense	-	-	-	-
RP11-133K1.12	chr15	40285468	40285909	-	ENSG00000273855.1	sense_intronic	-	-	-	-
RP11-133K1.6	chr15	40312615	40316634	+	ENSG00000259198.1	lincRNA	-	-	-	-
RP11-133N21.7	chr12	49595148	49595688	+	ENSG00000257243.1	processed_pseudogene	-	-	-	-
RP11-1348G14.1	chr16	28813980	28814673	-	ENSG00000240634.1	processed_pseudogene	-	-	-	-
RP11-1348G14.4	chr16	28802743	28817828	+	ENSG00000251417.2	lincRNA	-	-	-	-
RP11-1348G14.5	chr16	28820570	28822033	-	ENSG00000260796.1	antisense	-	-	-	-
RP11-1348G14.6	chr16	28749959	28750595	-	ENSG00000270424.1	processed_pseudogene	-	-	-	-
RP11-1348G14.8	chr16	28822431	28823969	-	ENSG00000275807.1	antisense	-	-	-	-
RP11-134K13.4	chr6	70596438	70596980	+	ENSG00000271967.1	lincRNA	-	-	-	-
RP11-134L10.1	chr7	135168403	135169547	+	ENSG00000272941.1	antisense	-	-	-	-
RP11-134N1.2	chr12	14216590	14221297	+	ENSG00000256084.1	lincRNA	-	-	-	-
RP11-135J2.3	chr1	219222248	219225497	-	ENSG00000223842.1	lincRNA	-	-	-	-
RP11-135L13.4	chr17	19334308	19336127	-	ENSG00000265263.1	antisense	-	-	-	-
RP11-136C24.2	chr3	43087479	43088068	+	ENSG00000227245.1	lincRNA	-	-	-	-
RP11-136K14.1	chr6	150600834	150605850	+	ENSG00000232891.1	sense_intronic	-	-	-	-
RP11-136O12.2	chr8	125466939	125541373	+	ENSG00000253111.1	lincRNA	-	-	-	-
RP11-1376P16.1	chr17	82160056	82160452	+	ENSG00000266654.1	antisense	-	-	-	-
RP11-1376P16.2	chr17	82153430	82154815	+	ENSG00000265678.1	antisense	-	-	-	-
RP11-1379J22.2	chr5	179595904	179603741	-	ENSG00000244945.1	antisense	-	-	-	-
RP11-1379J22.5	chr5	179657762	179664432	+	ENSG00000250999.1	antisense	-	-	-	-
RP11-1379J22.7	chr5	179651284	179652457	+	ENSG00000228259.3	unprocessed_pseudogene	-	-	-	-
RP11-138C9.1	chr17	47682417	47682683	-	ENSG00000264558.1	antisense	-	-	-	-
RP11-138H8.2	chr15	70748932	70754177	+	ENSG00000259532.1	lincRNA	-	-	-	-
RP11-138P22.1	chr17	27874645	27881237	+	ENSG00000266527.1	antisense	-	-	-	-
RP11-1391J7.1	chr11	856880	859795	-	ENSG00000250397.2	antisense	-	-	-	-
RP11-1396O13.13	chr4	9384017	9388983	-	ENSG00000219492.4	unprocessed_pseudogene	-	-	-	-
RP11-1398P2.1	chr4	1574062	1580253	-	ENSG00000244459.2	lincRNA	-	-	-	-
RP11-139H15.6	chr15	55346347	55346752	-	ENSG00000277548.1	sense_intronic	-	-	-	-
RP11-139J15.5	chr10	18746433	18747853	+	ENSG00000234244.1	lincRNA	-	-	-	-
RP11-13J10.1	chr2	104853285	104926052	+	ENSG00000269707.1	sense_overlapping	-	-	-	-
RP11-13P5.1	chr6	159107791	159116053	+	ENSG00000224478.1	lincRNA	-	-	-	-
RP11-140H17.2	chr16	69632141	69632571	+	ENSG00000274093.1	sense_intronic	-	-	-	-
RP11-140I16.3	chr8	56222688	56223173	+	ENSG00000272343.1	lincRNA	-	-	-	-
RP11-140K17.3	chr6	34696317	34697470	+	ENSG00000272288.5	antisense	-	-	-	-
RP11-141B14.1	chr2	113888203	113889750	-	ENSG00000270019.1	lincRNA	-	-	-	-
RP11-141C7.2	chr3	195701618	195711643	+	ENSG00000283426.1	unitary_pseudogene	-	-	-	-
RP11-141C7.3	chr3	195650146	195651472	-	ENSG00000271662.1	processed_pseudogene	-	-	-	-
RP11-141M3.6	chr3	42809414	42908105	+	ENSG00000273328.5	processed_transcript	-	-	-	-
RP11-142A22.4	chr4	145335263	145340421	-	ENSG00000272727.1	lincRNA	-	-	-	-
RP11-142O6.1	chr17	31133182	31138518	+	ENSG00000266371.1	sense_intronic	-	-	-	-
RP11-143K11.7	chr17	73202968	73203431	-	ENSG00000277728.1	antisense	-	-	-	-
RP11-143N13.2	chr16	20580999	20586640	+	ENSG00000260201.2	lincRNA	-	-	-	-
RP11-144F15.1	chr12	106495958	106774918	-	ENSG00000257545.4	antisense	-	-	-	-
RP11-144I2.1	chr10	24481180	24483034	-	ENSG00000279029.1	TEC	-	-	-	-
RP11-144L1.8	chr1	158523672	158525838	+	ENSG00000231434.1	processed_pseudogene	-	-	-	-
RP11-146N23.1	chr9	19200335	19201046	-	ENSG00000232176.1	processed_pseudogene	-	-	-	-
RP11-147C23.1	chr1	95937901	96022880	+	ENSG00000237435.9	lincRNA	-	-	-	-
RP11-147I3.1	chr11	74876286	74920022	+	ENSG00000241170.2	transcribed_processed_pseudogene	-	-	-	-
RP11-147L13.11	chr17	68126666	68129586	+	ENSG00000278730.1	lincRNA	-	-	-	-
RP11-147L13.12	chr17	68131462	68131907	+	ENSG00000274561.1	lincRNA	-	-	-	-
RP11-147L13.13	chr17	68133201	68135935	+	ENSG00000277476.1	lincRNA	-	-	-	-
RP11-147L13.14	chr17	68188547	68189165	+	ENSG00000278740.1	lincRNA	-	-	-	-
RP11-147L13.15	chr17	68205489	68207493	+	ENSG00000274712.1	lincRNA	-	-	-	-
RP11-147L13.2	chr17	68246629	68247938	-	ENSG00000265100.1	antisense	-	-	-	-
RP11-147L13.7	chr17	68152776	68159043	-	ENSG00000267708.1	unprocessed_pseudogene	-	-	-	-
RP11-147L13.8	chr17	68189884	68192802	+	ENSG00000267731.1	lincRNA	-	-	-	-
RP11-148K1.12	chr7	151074742	151076530	-	ENSG00000244151.1	antisense	-	-	-	-
RP11-148O21.2	chr8	11558466	11560020	-	ENSG00000255354.1	antisense	-	-	-	-
RP11-148O21.3	chr8	11553224	11554207	-	ENSG00000254774.1	antisense	-	-	-	-
RP11-148O21.4	chr8	11556251	11558022	-	ENSG00000255518.1	antisense	-	-	-	-
RP11-148O21.6	chr8	11552488	11552991	-	ENSG00000269954.1	lincRNA	-	-	-	-
RP11-149I9.2	chr17	81135771	81136256	+	ENSG00000263167.1	antisense	-	-	-	-
RP11-14C10.3	chr15	101495052	101495567	-	ENSG00000274139.1	sense_intronic	-	-	-	-
RP11-14D22.1	chr3	64445231	64454832	+	ENSG00000244564.1	lincRNA	-	-	-	-
RP11-150D20.5	chr10	72053294	72054037	-	ENSG00000272988.1	lincRNA	-	-	-	-
RP11-150D5.2	chr16	76228385	76262365	-	ENSG00000260983.1	lincRNA	-	-	-	-
RP11-150O12.4	chr8	37600537	37625873	-	ENSG00000254306.1	lincRNA	-	-	-	-
RP11-151A6.4	chr13	100535741	100587146	-	ENSG00000224356.5	sense_intronic	-	-	-	-
RP11-151A6.6	chr13	100537365	100539567	+	ENSG00000280169.1	antisense	-	-	-	-
RP11-152F13.8	chr15	82418651	82434235	+	ENSG00000278202.1	processed_transcript	-	-	-	-
RP11-152H18.3	chr11	8693357	8696607	+	ENSG00000254665.1	antisense	-	-	-	-
RP11-153F1.1	chr1	103418079	103525483	-	ENSG00000224613.6	antisense	-	-	-	-
RP11-153I24.5	chr13	108335354	108448316	+	ENSG00000283384.1	protein_coding	-	-	-	-
RP11-153K11.3	chr10	68233251	68242379	-	ENSG00000233590.1	lincRNA	-	-	-	-
RP11-153K16.1	chr12	23099368	23191587	+	ENSG00000256321.5	lincRNA	-	-	-	-
RP11-154D17.1	chr9	81689713	81776900	+	ENSG00000233926.1	lincRNA	-	-	-	-
RP11-154D6.1	chr6	71221457	71328228	-	ENSG00000232295.7	processed_transcript	-	-	-	-
RP11-154H12.3	chr18	79792726	79816529	+	ENSG00000267780.2	lincRNA	-	-	-	-
RP11-154H23.4	chr3	71581721	71628558	+	ENSG00000277855.1	antisense	-	-	-	-
RP11-155D18.13	chr3	51951849	51953902	-	ENSG00000280422.1	TEC	-	-	-	-
RP11-155G14.5	chr7	128466563	128469171	+	ENSG00000272601.1	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-155O18.6	chr1	52353487	52353877	+	ENSG00000272100.1	antisense	-	-	-	-
RP11-156E6.1	chr17	41848518	41851447	-	ENSG00000259623.1	sense_overlapping	-	-	-	-
RP11-156K13.3	chr8	17905756	17907887	+	ENSG00000254054.2	lincRNA	-	-	-	-
RP11-156P1.2	chr17	46923133	47049932	+	ENSG00000262633.2	protein_coding	-	-	-	-
RP11-156P1.3	chr17	46984045	47100323	-	ENSG00000262879.5	processed_transcript	-	-	-	-
RP11-157F20.1	chr3	57134142	57134723	+	ENSG00000229863.1	processed_pseudogene	-	-	-	-
RP11-157J24.2	chr6	1528364	1528911	-	ENSG00000272279.1	lincRNA	-	-	-	-
RP11-157K17.5	chr11	67195569	67197167	-	ENSG00000179038.8	transcribed_processed_pseudogene	-	-	-	-
RP11-157P1.4	chr20	62305432	62306325	-	ENSG00000226332.2	antisense	-	-	-	-
RP11-158I13.2	chr2	27583046	27635174	+	ENSG00000259080.1	processed_transcript	-	-	-	-
RP11-158I9.5	chr11	118885841	118887742	-	ENSG00000245869.2	antisense	-	-	-	-
RP11-158I9.8	chr11	118791254	118793137	+	ENSG00000278376.1	lincRNA	-	-	-	-
RP11-158L12.4	chr12	125138245	125141711	+	ENSG00000279233.1	TEC	-	-	-	-
RP11-158M2.2	chr15	85726115	85727227	-	ENSG00000259544.1	antisense	-	-	-	-
RP11-158M2.3	chr15	85744109	85750281	-	ENSG00000259407.1	antisense	-	-	-	-
RP11-158M2.4	chr15	85750336	85752901	-	ENSG00000259762.1	antisense	-	-	-	-
RP11-158M2.5	chr15	85754941	85756237	-	ENSG00000259416.2	antisense	-	-	-	-
RP11-158M2.6	chr15	85770990	85771163	+	ENSG00000259195.1	processed_pseudogene	-	-	-	-
RP11-159D12.10	chr17	58076891	58083204	-	ENSG00000266290.1	lincRNA	-	-	-	-
RP11-159D12.2	chr17	57989039	57994850	-	ENSG00000264112.1	lincRNA	-	-	-	-
RP11-159D12.3	chr17	57988180	57988760	+	ENSG00000280233.1	TEC	-	-	-	-
RP11-159D12.8	chr17	58095672	58101479	+	ENSG00000279207.1	TEC	-	-	-	-
RP11-159F24.3	chr5	43483959	43509356	+	ENSG00000249492.1	processed_transcript	-	-	-	-
RP11-159F24.5	chr5	43515274	43525310	+	ENSG00000248240.1	antisense	-	-	-	-
RP11-159F24.6	chr5	43511058	43521811	+	ENSG00000248554.1	antisense	-	-	-	-
RP11-159H10.3	chr8	69834111	69854971	+	ENSG00000246528.3	antisense	-	-	-	-
RP11-159H22.2	chr11	27471729	27482433	+	ENSG00000254862.5	antisense	-	-	-	-
RP11-159N11.4	chr11	113368478	113369117	+	ENSG00000270179.1	sense_intronic	-	-	-	-
RP11-15A1.2	chr19	43902001	43926545	+	ENSG00000267191.1	antisense	-	-	-	-
RP11-15A1.3	chr19	43891804	43901805	-	ENSG00000267058.1	lincRNA	-	-	-	-
RP11-15A1.4	chr19	43891233	43895411	+	ENSG00000278917.1	TEC	-	-	-	-
RP11-15A1.7	chr19	43996896	44002836	-	ENSG00000266921.1	antisense	-	-	-	-
RP11-15B17.1	chr4	99950006	100195099	+	ENSG00000245322.6	antisense	-	-	-	-
RP11-15F12.1	chr18	49023703	49048474	+	ENSG00000264269.1	antisense	-	-	-	-
RP11-15F12.3	chr18	49116301	49126479	+	ENSG00000265128.1	antisense	-	-	-	-
RP11-15I11.2	chr1	212168207	212190259	+	ENSG00000229983.1	lincRNA	-	-	-	-
RP11-15I11.3	chr1	212225278	212238977	-	ENSG00000226251.5	lincRNA	-	-	-	-
RP11-15J22.8	chr12	122501187	122501641	+	ENSG00000275265.1	lincRNA	-	-	-	-
RP11-15K2.2	chr17	61460224	61463384	-	ENSG00000267137.1	antisense	-	-	-	-
RP11-15L13.4	chr3	179583262	179583762	-	ENSG00000272910.1	antisense	-	-	-	-
RP11-160C18.2	chr15	78660644	78735495	+	ENSG00000261303.5	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-160E2.6	chr17	19112000	19112636	-	ENSG00000262202.4	lincRNA	-	-	-	-
RP11-160H22.5	chr1	174115300	174160004	-	ENSG00000227373.5	lincRNA	-	-	-	-
RP11-161H23.5	chr12	49265156	49273306	-	ENSG00000258232.2	antisense	-	-	-	-
RP11-161M6.2	chr16	975761	981596	-	ENSG00000260807.6	lincRNA	-	-	-	-
RP11-161M6.3	chr16	991151	1000926	-	ENSG00000260496.3	lincRNA	-	-	-	-
RP11-161M6.5	chr16	1065240	1066502	+	ENSG00000261720.1	lincRNA	-	-	-	-
RP11-161M6.6	chr16	968375	969012	-	ENSG00000276931.1	sense_intronic	-	-	-	-
RP11-162D16.2	chr9	121369906	121463237	+	ENSG00000227355.2	antisense	-	-	-	-
RP11-162G10.5	chr10	37857740	37859110	+	ENSG00000236514.1	antisense	-	-	-	-
RP11-162I7.1	chr15	61729850	61731389	+	ENSG00000259284.1	lincRNA	-	-	-	-
RP11-163E9.1	chr7	102380465	102382737	-	ENSG00000239486.1	unprocessed_pseudogene	-	-	-	-
RP11-163E9.2	chr7	102364162	102380633	+	ENSG00000239969.5	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-163O19.1	chr11	49850629	49862528	+	ENSG00000254714.1	unprocessed_pseudogene	-	-	-	-
RP11-163O19.16	chr11	49843488	49846533	-	ENSG00000265973.1	unprocessed_pseudogene	-	-	-	-
RP11-163O19.8	chr11	49892262	49893777	-	ENSG00000255111.1	processed_pseudogene	-	-	-	-
RP11-164O23.7	chr1	207179296	207184062	+	ENSG00000243636.1	lincRNA	-	-	-	-
RP11-164P12.3	chr4	151674483	151677893	+	ENSG00000251455.1	antisense	-	-	-	-
RP11-164P12.4	chr4	151667224	151670502	+	ENSG00000251603.1	antisense	-	-	-	-
RP11-164P12.5	chr4	151669786	151670503	+	ENSG00000278978.1	TEC	-	-	-	-
RP11-165A20.3	chr10	24953241	24953513	+	ENSG00000273107.1	lincRNA	-	-	-	-
RP11-165F24.3	chr9	452492	492248	-	ENSG00000227155.7	antisense	-	-	-	-
RP11-165F24.5	chr9	487774	495610	+	ENSG00000228115.1	sense_intronic	-	-	-	-
RP11-165H23.1	chr9	79135422	79145674	-	ENSG00000260995.1	lincRNA	-	-	-	-
RP11-165J3.5	chr9	93430342	93431299	-	ENSG00000237385.1	antisense	-	-	-	-
RP11-165J3.6	chr9	93435332	93437121	-	ENSG00000227603.1	antisense	-	-	-	-
RP11-166B2.3	chr16	11881075	11882569	-	ENSG00000261560.1	sense_intronic	-	-	-	-
RP11-166N17.1	chr10	32266289	32269474	+	ENSG00000227253.3	antisense	-	-	-	-
RP11-166N6.2	chr3	150890636	151038818	+	ENSG00000243273.1	antisense	-	-	-	-
RP11-166P13.3	chr17	57078298	57085024	-	ENSG00000263004.1	lincRNA	-	-	-	-
RP11-167N24.3	chr12	95311312	95442482	-	ENSG00000257943.2	transcribed_unitary_pseudogene	-	-	-	-
RP11-168A11.4	chr5	80019609	80019920	+	ENSG00000251050.1	processed_pseudogene	-	-	-	-
RP11-168E17.1	chr4	12223451	12251286	+	ENSG00000251210.5	lincRNA	-	-	-	-
RP11-168J18.6	chr3	52373652	52374882	+	ENSG00000239557.1	processed_pseudogene	-	-	-	-
RP11-168O16.1	chr1	201023949	201028792	+	ENSG00000229191.1	antisense	-	-	-	-
RP11-169D4.2	chr11	72584572	72587979	+	ENSG00000256633.1	antisense	-	-	-	-
RP11-169D4.3	chr11	72551049	72551919	-	ENSG00000276109.1	processed_pseudogene	-	-	-	-
RP11-169D4.4	chr11	72562044	72562554	+	ENSG00000274664.1	processed_pseudogene	-	-	-	-
RP11-169K16.4	chr1	15740051	15749896	-	ENSG00000224459.1	antisense	-	-	-	-
RP11-169K16.8	chr1	15828232	15828669	+	ENSG00000178715.8	processed_pseudogene	-	-	-	-
RP11-169K17.3	chr3	11611602	11612197	+	ENSG00000272483.1	antisense	-	-	-	-
RP11-16B9.1	chr15	61834752	61852152	+	ENSG00000259564.1	antisense	-	-	-	-
RP11-16C1.2	chr17	75370947	75373736	-	ENSG00000264853.1	sense_intronic	-	-	-	-
RP11-16E12.1	chr15	31216020	31224445	+	ENSG00000259448.2	lincRNA	-	-	-	-
RP11-16E23.4	chr15	65771176	65772139	-	ENSG00000259924.1	processed_pseudogene	-	-	-	-
RP11-16L9.2	chr1	198983321	198985400	+	ENSG00000225172.5	lincRNA	-	-	-	-
RP11-16P20.3	chr8	27733338	27756426	+	ENSG00000253875.1	antisense	-	-	-	-
RP11-16P20.4	chr8	27701194	27703789	+	ENSG00000279302.3	TEC	-	-	-	-
RP11-170N16.3	chr4	122881878	122884712	-	ENSG00000273007.1	antisense	-	-	-	-
RP11-171I2.1	chr2	178723457	178727046	+	ENSG00000267784.1	antisense	-	-	-	-
RP11-171I2.2	chr2	178578790	178580906	+	ENSG00000270574.1	antisense	-	-	-	-
RP11-171I2.3	chr2	178644717	178645179	+	ENSG00000271401.1	lincRNA	-	-	-	-
RP11-171I2.5	chr2	178577103	178577622	+	ENSG00000271011.1	antisense	-	-	-	-
RP11-172C16.5	chr11	114517864	114518371	+	ENSG00000270204.1	processed_pseudogene	-	-	-	-
RP11-172H24.4	chr13	20699307	20703718	-	ENSG00000278291.1	antisense	-	-	-	-
RP11-173A8.2	chr14	74658049	74658590	+	ENSG00000258439.1	processed_pseudogene	-	-	-	-
RP11-173B14.4	chr13	75631271	75632135	+	ENSG00000228444.2	sense_intronic	-	-	-	-
RP11-173M1.4	chr17	27333256	27348491	+	ENSG00000266313.1	lincRNA	-	-	-	-
RP11-173P15.10	chr12	120709112	120709523	+	ENSG00000276188.1	lincRNA	-	-	-	-
RP11-173P15.3	chr12	120697124	120699541	-	ENSG00000256364.1	antisense	-	-	-	-
RP11-173P15.5	chr12	120721507	120723639	-	ENSG00000256569.1	antisense	-	-	-	-
RP11-173P15.7	chr12	120740470	120761592	-	ENSG00000255946.1	antisense	-	-	-	-
RP11-173P15.9	chr12	120703867	120704282	+	ENSG00000277423.1	lincRNA	-	-	-	-
RP11-174G6.1	chr12	14665655	14757963	+	ENSG00000214772.2	antisense	-	-	-	-
RP11-174G6.5	chr12	14762504	14767931	-	ENSG00000261324.2	sense_overlapping	-	-	-	-
RP11-174N3.4	chr6	35070871	35071049	-	ENSG00000273870.1	processed_pseudogene	-	-	-	-
RP11-174O3.1	chr3	120306726	120307952	+	ENSG00000240882.1	processed_pseudogene	-	-	-	-
RP11-175K6.2	chr5	159106380	159108617	+	ENSG00000279204.1	TEC	-	-	-	-
RP11-176H8.1	chr14	31334312	31457441	-	ENSG00000203546.7	protein_coding	-	-	-	-
RP11-177G23.1	chr6	79573877	79575530	+	ENSG00000279659.1	TEC	-	-	-	-
RP11-177G23.2	chr6	79561132	79561602	+	ENSG00000272137.1	lincRNA	-	-	-	-
RP11-177H13.2	chr8	23336171	23366125	+	ENSG00000253837.1	processed_transcript	-	-	-	-
RP11-177H2.1	chr8	10856085	10859436	-	ENSG00000280294.1	TEC	-	-	-	-
RP11-177H2.2	chr8	10840576	10846501	+	ENSG00000253695.1	antisense	-	-	-	-
RP11-177J6.1	chr4	55387949	55388271	+	ENSG00000273257.1	lincRNA	-	-	-	-
RP11-178C3.2	chr17	59964832	59996972	+	ENSG00000267302.5	lincRNA	-	-	-	-
RP11-178F10.2	chr18	24489375	24491080	+	ENSG00000264695.1	lincRNA	-	-	-	-
RP11-178L8.3	chr16	87396704	87400295	-	ENSG00000261592.1	antisense	-	-	-	-
RP11-178L8.5	chr16	87262759	87292438	-	ENSG00000261697.5	sense_intronic	-	-	-	-
RP11-178L8.6	chr16	87296949	87297633	+	ENSG00000280419.1	TEC	-	-	-	-
RP11-178L8.9	chr16	87362536	87367476	+	ENSG00000269901.1	antisense	-	-	-	-
RP11-179B15.5	chr10	58304553	58305621	+	ENSG00000228527.1	lincRNA	-	-	-	-
RP11-179B2.2	chr10	100911103	100912739	-	ENSG00000272572.1	antisense	-	-	-	-
RP11-17A4.2	chr8	56445807	56552067	+	ENSG00000254254.5	antisense	-	-	-	-
RP11-17G12.2	chr11	47220218	47221751	-	ENSG00000256897.1	antisense	-	-	-	-
RP11-17G12.3	chr11	47270657	47272110	-	ENSG00000256746.5	antisense	-	-	-	-
RP11-180C16.1	chr7	131493964	131497694	-	ENSG00000273489.1	antisense	-	-	-	-
RP11-180D21.3	chr1	159466321	159483376	+	ENSG00000224943.1	lincRNA	-	-	-	-
RP11-180I4.2	chr9	95650154	95715718	+	ENSG00000228142.2	lincRNA	-	-	-	-
RP11-180I4.4	chr9	95772323	95774734	+	ENSG00000268926.2	lincRNA	-	-	-	-
RP11-180M15.3	chr12	12668982	12685075	+	ENSG00000257004.1	lincRNA	-	-	-	-
RP11-180M15.4	chr12	12723297	12724011	-	ENSG00000256658.1	antisense	-	-	-	-
RP11-180M15.6	chr12	12648939	12649713	+	ENSG00000275963.1	lincRNA	-	-	-	-
RP11-181C3.1	chr12	98485544	98503855	-	ENSG00000245017.2	lincRNA	-	-	-	-
RP11-181E10.3	chr2	111210995	111212476	-	ENSG00000271590.1	lincRNA	-	-	-	-
RP11-181G12.4	chr1	2212523	2220738	+	ENSG00000234396.3	lincRNA	-	-	-	-
RP11-181K12.1	chr4	145830456	145832980	-	ENSG00000279481.1	TEC	-	-	-	-
RP11-181K3.4	chr1	183138402	183141282	-	ENSG00000224468.3	antisense	-	-	-	-
RP11-182J1.10	chr15	84500378	84502381	+	ENSG00000259551.1	lincRNA	-	-	-	-
RP11-182J1.13	chr15	84422618	84425882	+	ENSG00000259774.1	lincRNA	-	-	-	-
RP11-182J1.14	chr15	84389729	84395903	+	ENSG00000259683.1	unprocessed_pseudogene	-	-	-	-
RP11-182J1.18	chr15	84597809	84633987	-	ENSG00000275120.2	antisense	-	-	-	-
RP11-182J1.5	chr15	84611689	84614969	-	ENSG00000256278.1	antisense	-	-	-	-
RP11-182L21.5	chr10	79663192	79664786	+	ENSG00000272489.1	sense_intronic	-	-	-	-
RP11-183G22.1	chr1	50326131	50327007	+	ENSG00000234080.3	processed_pseudogene	-	-	-	-
RP11-184A2.3	chr10	3751067	3763226	+	ENSG00000229672.2	antisense	-	-	-	-
RP11-184B22.2	chr9	125372325	125372766	-	ENSG00000227845.2	processed_pseudogene	-	-	-	-
RP11-184I16.4	chr1	43709392	43727343	-	ENSG00000229444.1	antisense	-	-	-	-
RP11-184J23.2	chr1	47074778	47075979	-	ENSG00000225154.2	processed_pseudogene	-	-	-	-
RP11-186B7.7	chr17	7557820	7558245	-	ENSG00000276384.1	antisense	-	-	-	-
RP11-187A9.3	chr13	42043727	42044247	-	ENSG00000231530.1	antisense	-	-	-	-
RP11-188C12.2	chr9	137776539	137789235	-	ENSG00000255585.3	transcribed_processed_pseudogene	-	-	-	-
RP11-189E14.3	chr16	49454229	49457269	+	ENSG00000263110.1	lincRNA	-	-	-	-
RP11-18B3.2	chr9	105758164	105760755	+	ENSG00000232486.1	processed_pseudogene	-	-	-	-
RP11-18C24.8	chr12	120500735	120501090	-	ENSG00000278344.1	lincRNA	-	-	-	-
RP11-18I14.11	chr10	102483039	102483559	+	ENSG00000273262.1	antisense	-	-	-	-
RP11-18O15.1	chr12	102230027	102230533	-	ENSG00000258142.2	processed_pseudogene	-	-	-	-
RP11-190A12.8	chr1	159866954	159867685	+	ENSG00000272668.1	antisense	-	-	-	-
RP11-190A12.9	chr1	159910094	159910554	-	ENSG00000279430.1	TEC	-	-	-	-
RP11-190C22.8	chr3	119497678	119498181	-	ENSG00000272662.1	lincRNA	-	-	-	-
RP11-190C22.9	chr3	119579212	119579650	-	ENSG00000272967.1	antisense	-	-	-	-
RP11-190J23.2	chr2	143099936	143100612	-	ENSG00000284167.1	processed_pseudogene	-	-	-	-
RP11-191L17.1	chr2	48440043	48440597	-	ENSG00000272663.1	lincRNA	-	-	-	-
RP11-192H23.4	chr17	28455752	28614197	-	ENSG00000258472.8	protein_coding	-	-	-	-
RP11-192H23.8	chr17	28601827	28602284	-	ENSG00000264608.1	sense_intronic	-	-	-	-
RP11-192P3.4	chr10	31187883	31261910	+	ENSG00000272381.1	lincRNA	-	-	-	-
RP11-193F5.4	chr14	60972272	60972466	-	ENSG00000258656.1	processed_pseudogene	-	-	-	-
RP11-193M21.1	chr12	85263544	85264457	+	ENSG00000269916.1	lincRNA	-	-	-	-
RP11-194N12.2	chr17	42495867	42496550	+	ENSG00000267222.1	sense_intronic	-	-	-	-
RP11-195B17.1	chr2	27062428	27062907	-	ENSG00000272148.1	antisense	-	-	-	-
RP11-195C7.1	chr1	176207648	176229330	+	ENSG00000236021.1	antisense	-	-	-	-
RP11-195F19.9	chr9	34665665	34681298	+	ENSG00000230074.1	antisense	-	-	-	-
RP11-196B3.1	chr18	79420836	79422780	+	ENSG00000279637.1	TEC	-	-	-	-
RP11-196B3.3	chr18	79470120	79470940	-	ENSG00000275186.1	antisense	-	-	-	-
RP11-196G11.2	chr16	31043150	31049868	+	ENSG00000260911.2	lincRNA	-	-	-	-
RP11-196G11.3	chr16	31093727	31095944	+	ENSG00000280160.1	TEC	-	-	-	-
RP11-196G11.4	chr16	31118078	31118747	+	ENSG00000262766.1	sense_intronic	-	-	-	-
RP11-196G11.5	chr16	31122235	31124064	+	ENSG00000278133.1	sense_intronic	-	-	-	-
RP11-196G11.6	chr16	31056460	31062803	+	ENSG00000232748.3	lincRNA	-	-	-	-
RP11-196G18.22	chr1	149844498	149849024	-	ENSG00000261716.1	sense_overlapping	-	-	-	-
RP11-196G18.23	chr1	149861271	149862504	+	ENSG00000264207.1	antisense	-	-	-	-
RP11-196G18.24	chr1	149845816	149846486	+	ENSG00000272993.1	lincRNA	-	-	-	-
RP11-196G18.3	chr1	149785659	149793020	-	ENSG00000233030.2	antisense	-	-	-	-
RP11-196H14.2	chr12	64038562	64097618	-	ENSG00000255886.1	antisense	-	-	-	-
RP11-197M22.2	chr10	16721352	16748377	-	ENSG00000225213.2	sense_intronic	-	-	-	-
RP11-197N18.2	chr12	122975320	122982907	+	ENSG00000256028.2	processed_transcript	-	-	-	-
RP11-199F11.2	chr17	7685260	7686371	-	ENSG00000262251.1	sense_intronic	-	-	-	-
RP11-19O2.2	chr5	16180238	16185585	+	ENSG00000250448.1	antisense	-	-	-	-
RP11-1B20.1	chr1	227178333	227183444	+	ENSG00000228625.1	antisense	-	-	-	-
RP11-1E11.1	chr9	88180673	88181447	+	ENSG00000204429.4	processed_pseudogene	-	-	-	-
RP11-1E4.1	chr8	10050485	10054254	-	ENSG00000260093.1	antisense	-	-	-	-
RP11-1H15.1	chr11	9958744	9959790	-	ENSG00000254765.1	processed_pseudogene	-	-	-	-
RP11-1I2.1	chr18	39314240	39328008	+	ENSG00000283458.1	lincRNA	-	-	-	-
RP11-1O10.1	chr15	62230384	62231895	-	ENSG00000259878.1	lincRNA	-	-	-	-
RP11-201E8.1	chr3	99598064	99623820	+	ENSG00000244464.1	lincRNA	-	-	-	-
RP11-201O14.2	chr1	31050872	31051034	+	ENSG00000232768.1	processed_pseudogene	-	-	-	-
RP11-202G18.1	chr9	111139246	111284836	-	ENSG00000227531.1	lincRNA	-	-	-	-
RP11-203B9.4	chr6	57114894	57174236	-	ENSG00000226803.7	antisense	-	-	-	-
RP11-203E8.1	chr8	24169957	24177080	-	ENSG00000253891.1	lincRNA	-	-	-	-
RP11-203F10.5	chr1	204277005	204277948	+	ENSG00000231691.1	antisense	-	-	-	-
RP11-203F10.6	chr1	204346776	204347258	-	ENSG00000219133.2	processed_pseudogene	-	-	-	-
RP11-203L2.3	chr9	68788307	68789670	-	ENSG00000236998.2	processed_pseudogene	-	-	-	-
RP11-204K16.1	chr14	68338728	68339528	-	ENSG00000240210.3	processed_pseudogene	-	-	-	-
RP11-205K6.3	chr9	126518840	126520773	+	ENSG00000279137.1	TEC	-	-	-	-
RP11-207C16.4	chr9	5719021	5720244	-	ENSG00000225408.1	antisense	-	-	-	-
RP11-209D14.2	chr17	20008051	20009234	-	ENSG00000261033.1	antisense	-	-	-	-
RP11-209D14.4	chr17	19929372	19929737	-	ENSG00000266126.1	sense_intronic	-	-	-	-
RP11-209E8.1	chr15	53116365	53129698	+	ENSG00000259237.1	lincRNA	-	-	-	-
RP11-209K10.2	chr15	52801614	52804942	-	ENSG00000259203.1	lincRNA	-	-	-	-
RP11-20B24.7	chr17	28892469	28893342	+	ENSG00000264304.1	antisense	-	-	-	-
RP11-20D14.6	chr12	8788257	8795789	+	ENSG00000249790.2	lincRNA	-	-	-	-
RP11-20I20.4	chr4	1167778	1168174	+	ENSG00000273179.1	antisense	-	-	-	-
RP11-20I23.10	chr16	2578395	2579963	+	ENSG00000280402.1	TEC	-	-	-	-
RP11-20I23.13	chr16	2554060	2556060	-	ENSG00000261613.2	antisense	-	-	-	-
RP11-20I23.5	chr16	2575628	2577373	-	ENSG00000279568.1	TEC	-	-	-	-
RP11-20I23.6	chr16	2569043	2571936	-	ENSG00000261140.1	antisense	-	-	-	-
RP11-20I23.8	chr16	2561471	2565096	-	ENSG00000269937.1	antisense	-	-	-	-
RP11-20J15.3	chr10	44282926	44293709	-	ENSG00000229116.2	lincRNA	-	-	-	-
RP11-20O24.1	chr1	109030067	109030319	+	ENSG00000228665.2	processed_pseudogene	-	-	-	-
RP11-20O24.4	chr1	108992282	108992836	+	ENSG00000244716.3	processed_pseudogene	-	-	-	-
RP11-210H10__A.1	chr6	118757518	118783420	+	ENSG00000225549.3	transcribed_processed_pseudogene	-	-	-	-
RP11-210M15.2	chr15	80344853	80403575	-	ENSG00000259495.2	lincRNA	-	-	-	-
RP11-211A18.2	chr1	227234269	227235355	+	ENSG00000228729.1	processed_pseudogene	-	-	-	-
RP11-211G23.2	chr11	69371463	69372512	+	ENSG00000260877.2	lincRNA	-	-	-	-
RP11-211G3.2	chr3	187743686	187746028	+	ENSG00000223401.2	protein_coding	-	-	-	-
RP11-211G3.3	chr3	187702313	187733849	+	ENSG00000228804.5	antisense	-	-	-	-
RP11-211N11.5	chr10	113710681	113719332	-	ENSG00000234393.1	antisense	-	-	-	-
RP11-212D19.5	chr11	114453064	114454123	+	ENSG00000256533.1	processed_pseudogene	-	-	-	-
RP11-212P7.2	chr7	128524016	128531069	-	ENSG00000273270.1	lincRNA	-	-	-	-
RP11-213G6.2	chr8	23726331	23743042	-	ENSG00000254002.1	lincRNA	-	-	-	-
RP11-213H15.1	chr5	91280097	91281142	-	ENSG00000234292.3	lincRNA	-	-	-	-
RP11-214F16.8	chr13	99498524	99501315	+	ENSG00000280710.2	lincRNA	-	-	-	-
RP11-214K3.18	chr12	123971457	123971714	-	ENSG00000270095.1	sense_intronic	-	-	-	-
RP11-214K3.19	chr12	123969990	123970344	-	ENSG00000270061.1	sense_intronic	-	-	-	-
RP11-214K3.20	chr12	123968023	123968579	-	ENSG00000269938.1	sense_intronic	-	-	-	-
RP11-214K3.21	chr12	123966077	123966629	-	ENSG00000269997.1	sense_intronic	-	-	-	-
RP11-214K3.22	chr12	123962555	123962817	-	ENSG00000270048.1	sense_intronic	-	-	-	-
RP11-214K3.23	chr12	123960717	123961244	-	ENSG00000270130.1	sense_intronic	-	-	-	-
RP11-214K3.24	chr12	124085761	124088598	+	ENSG00000275389.1	lincRNA	-	-	-	-
RP11-214N16.2	chr9	76549282	76549771	-	ENSG00000219149.4	processed_pseudogene	-	-	-	-
RP11-214N9.1	chr2	9555899	9556775	+	ENSG00000271855.1	lincRNA	-	-	-	-
RP11-215P8.1	chr5	134422838	134423335	+	ENSG00000243648.1	processed_pseudogene	-	-	-	-
RP11-216L13.21	chr9	136728953	136729855	-	ENSG00000274356.1	unprocessed_pseudogene	-	-	-	-
RP11-216P16.5	chr12	121096027	121096429	-	ENSG00000279001.1	TEC	-	-	-	-
RP11-217B1.2	chr15	89335053	89336161	+	ENSG00000261441.1	antisense	-	-	-	-
RP11-217B7.2	chr9	104927553	104928892	+	ENSG00000226334.1	antisense	-	-	-	-
RP11-218D6.4	chr10	27999788	28049615	+	ENSG00000233472.1	lincRNA	-	-	-	-
RP11-218E20.5	chr14	50912226	50913358	+	ENSG00000258745.1	antisense	-	-	-	-
RP11-218F10.3	chr4	163529771	163530697	+	ENSG00000273449.1	lincRNA	-	-	-	-
RP11-218M11.1	chr17	30564057	30565576	-	ENSG00000259928.1	lincRNA	-	-	-	-
RP11-218M11.3	chr17	30550493	30551189	-	ENSG00000263860.1	lincRNA	-	-	-	-
RP11-218M22.1	chr12	630891	663706	+	ENSG00000177406.4	antisense	-	-	-	-
RP11-219B17.3	chr15	60593027	60593460	+	ENSG00000273958.1	lincRNA	-	-	-	-
RP11-219D15.3	chr3	139349024	139349371	-	ENSG00000272656.1	antisense	-	-	-	-
RP11-219E7.1	chr14	20783888	20784293	+	ENSG00000258810.1	antisense	-	-	-	-
RP11-219E7.2	chr14	20874305	20875768	-	ENSG00000258642.1	antisense	-	-	-	-
RP11-219E7.4	chr14	20897985	20936255	-	ENSG00000258918.1	lincRNA	-	-	-	-
RP11-219G17.9	chr17	78248193	78251440	+	ENSG00000283914.1	lincRNA	-	-	-	-
RP11-219J21.1	chr8	25685798	25687524	+	ENSG00000253100.1	lincRNA	-	-	-	-
RP11-21B21.4	chr16	88512960	88531053	-	ENSG00000261744.1	antisense	-	-	-	-
RP11-21B23.1	chr16	50368580	50371480	+	ENSG00000261393.1	antisense	-	-	-	-
RP11-21J18.1	chr18	9102736	9254346	+	ENSG00000265257.5	processed_transcript	-	-	-	-
RP11-21K12.2	chr12	128813186	128814750	-	ENSG00000279500.1	TEC	-	-	-	-
RP11-21L23.2	chr11	76800364	76804555	+	ENSG00000261578.1	sense_overlapping	-	-	-	-
RP11-21L23.3	chr11	76782581	76783062	-	ENSG00000255100.1	antisense	-	-	-	-
RP11-21L23.4	chr11	76759916	76768223	-	ENSG00000254632.1	antisense	-	-	-	-
RP11-21M24.2	chr16	22374859	22378180	+	ENSG00000260790.1	antisense	-	-	-	-
RP11-220I1.2	chr9	37112548	37115490	-	ENSG00000233242.2	antisense	-	-	-	-
RP11-220I1.5	chr9	37078813	37079776	-	ENSG00000260100.1	lincRNA	-	-	-	-
RP11-221N13.3	chr12	65602869	65612997	+	ENSG00000256268.1	lincRNA	-	-	-	-
RP11-221N13.4	chr12	65644334	65663299	+	ENSG00000256915.1	lincRNA	-	-	-	-
RP11-222K16.1	chr3	27638315	27638776	+	ENSG00000271943.1	lincRNA	-	-	-	-
RP11-223A3.1	chr1	42335386	42338376	-	ENSG00000227527.2	sense_overlapping	-	-	-	-
RP11-223I10.1	chr2	231052040	231052637	+	ENSG00000261829.1	sense_overlapping	-	-	-	-
RP11-225H22.4	chr10	103452846	103462695	+	ENSG00000234699.1	antisense	-	-	-	-
RP11-225H22.7	chr10	103450196	103450852	+	ENSG00000273485.1	antisense	-	-	-	-
RP11-225N10.3	chr3	182843521	182844619	-	ENSG00000270554.1	processed_pseudogene	-	-	-	-
RP11-226L15.1	chr1	160020300	160020727	+	ENSG00000237409.2	processed_pseudogene	-	-	-	-
RP11-227D13.1	chr15	48645951	48652016	+	ENSG00000259705.1	lincRNA	-	-	-	-
RP11-227D2.3	chr20	21397818	21400391	+	ENSG00000225280.6	antisense	-	-	-	-
RP11-227G15.11	chr17	32410159	32410746	+	ENSG00000278668.1	lincRNA	-	-	-	-
RP11-227G15.3	chr17	32324431	32360700	+	ENSG00000265794.5	processed_transcript	-	-	-	-
RP11-227G15.8	chr17	32411217	32412420	+	ENSG00000266385.1	lincRNA	-	-	-	-
RP11-227H15.4	chr10	69215333	69232490	-	ENSG00000229261.1	antisense	-	-	-	-
RP11-227H15.5	chr10	69265342	69268148	-	ENSG00000231748.1	antisense	-	-	-	-
RP11-229D13.3	chr7	76043977	76045963	-	ENSG00000280388.1	TEC	-	-	-	-
RP11-229O3.1	chr16	64981123	64983227	-	ENSG00000278893.1	TEC	-	-	-	-
RP11-229P13.15	chr9	137052662	137053375	+	ENSG00000236394.2	antisense	-	-	-	-
RP11-229P13.2	chr9	136935840	136937161	+	ENSG00000213590.2	processed_pseudogene	-	-	-	-
RP11-229P13.25	chr9	136937169	136937988	-	ENSG00000260190.1	sense_overlapping	-	-	-	-
RP11-22A3.2	chr4	12859101	12864961	-	ENSG00000250371.1	lincRNA	-	-	-	-
RP11-22C11.1	chr8	94688228	94688610	+	ENSG00000241003.1	processed_pseudogene	-	-	-	-
RP11-22C11.2	chr8	94637285	94639467	-	ENSG00000261437.1	antisense	-	-	-	-
RP11-22L13.1	chr1	3306636	3310096	-	ENSG00000272235.1	lincRNA	-	-	-	-
RP11-22P4.2	chr11	28516832	28519341	+	ENSG00000254606.1	lincRNA	-	-	-	-
RP11-22P6.2	chr16	28862166	28863340	-	ENSG00000261766.1	antisense	-	-	-	-
RP11-230B22.1	chr1	62688482	62710694	+	ENSG00000235545.1	antisense	-	-	-	-
RP11-230C9.2	chr6	156776360	156778422	-	ENSG00000271551.2	antisense	-	-	-	-
RP11-230C9.4	chr6	156774217	156774662	-	ENSG00000271265.1	lincRNA	-	-	-	-
RP11-230F18.5	chr13	113527260	113530621	+	ENSG00000276248.1	sense_intronic	-	-	-	-
RP11-230F18.6	chr13	113511747	113514473	+	ENSG00000276916.1	sense_intronic	-	-	-	-
RP11-231C14.6	chr16	29312350	29331277	+	ENSG00000260413.1	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-231C18.1	chr4	54332892	54355954	+	ENSG00000248184.1	lincRNA	-	-	-	-
RP11-231C18.2	chr4	54376002	54376752	+	ENSG00000248518.1	lincRNA	-	-	-	-
RP11-231D20.2	chr8	42233675	42271197	-	ENSG00000253408.5	antisense	-	-	-	-
RP11-231G3.1	chr5	60866457	60866935	-	ENSG00000272308.1	lincRNA	-	-	-	-
RP11-231I16.1	chr12	116977442	116987337	-	ENSG00000257279.1	antisense	-	-	-	-
RP11-231N3.1	chr11	13921450	13924863	-	ENSG00000254438.1	lincRNA	-	-	-	-
RP11-231P20.5	chr1	26263041	26263398	-	ENSG00000270733.1	processed_pseudogene	-	-	-	-
RP11-234A1.1	chr3	101576489	101576947	-	ENSG00000242299.1	processed_pseudogene	-	-	-	-
RP11-234K24.3	chr20	36148726	36155760	-	ENSG00000232406.6	antisense	-	-	-	-
RP11-234K24.6	chr20	36233851	36234297	+	ENSG00000278035.1	lincRNA	-	-	-	-
RP11-235E17.3	chr17	3577955	3578853	-	ENSG00000263338.1	sense_intronic	-	-	-	-
RP11-236B18.2	chr10	90994620	91006390	+	ENSG00000225519.1	lincRNA	-	-	-	-
RP11-237N19.3	chr11	129591493	129612110	+	ENSG00000281386.1	lincRNA	-	-	-	-
RP11-239L20.6	chr6	27001208	27001648	-	ENSG00000272312.1	lincRNA	-	-	-	-
RP11-23D5.1	chr9	11275314	11276314	-	ENSG00000230365.1	lincRNA	-	-	-	-
RP11-23E19.2	chr16	71113352	71114000	+	ENSG00000259798.1	antisense	-	-	-	-
RP11-23J9.4	chr9	97238497	97377287	+	ENSG00000255036.6	processed_transcript	-	-	-	-
RP11-23J9.6	chr9	97238645	97246184	+	ENSG00000254483.1	unprocessed_pseudogene	-	-	-	-
RP11-23P13.4	chr15	41825099	41827936	-	ENSG00000250379.1	antisense	-	-	-	-
RP11-23P13.6	chr15	41892793	41898575	+	ENSG00000174171.5	antisense	-	-	-	-
RP11-240E2.2	chr9	108040213	108040592	+	ENSG00000213557.4	processed_pseudogene	-	-	-	-
RP11-240G22.5	chr12	116948738	116951422	-	ENSG00000274554.1	antisense	-	-	-	-
RP11-240L7.4	chr9	96246462	96250393	+	ENSG00000232283.1	antisense	-	-	-	-
RP11-242C24.2	chr12	39466442	39467345	-	ENSG00000255991.2	processed_pseudogene	-	-	-	-
RP11-242D8.1	chr17	43148368	43171037	-	ENSG00000267002.2	lincRNA	-	-	-	-
RP11-242D8.3	chr17	43169880	43170077	-	ENSG00000267340.1	processed_pseudogene	-	-	-	-
RP11-242P2.2	chr14	79611418	79633311	-	ENSG00000259106.1	antisense	-	-	-	-
RP11-243J16.7	chr20	31686216	31716825	+	ENSG00000236559.1	antisense	-	-	-	-
RP11-243J18.2	chr1	155710098	155710563	-	ENSG00000227673.1	antisense	-	-	-	-
RP11-244F12.2	chr15	63070025	63071911	-	ENSG00000259627.1	antisense	-	-	-	-
RP11-244F12.3	chr15	63046034	63049387	-	ENSG00000259498.1	antisense	-	-	-	-
RP11-244N9.4	chr9	97634515	97636051	-	ENSG00000231521.1	antisense	-	-	-	-
RP11-244O19.1	chr9	121815674	121819452	-	ENSG00000261534.1	sense_overlapping	-	-	-	-
RP11-245C17.2	chr15	84685884	84686946	+	ENSG00000259654.1	antisense	-	-	-	-
RP11-245J24.1	chr10	118241564	118267710	+	ENSG00000238276.5	processed_transcript	-	-	-	-
RP11-245J9.5	chr3	64008082	64008692	-	ENSG00000271843.1	lincRNA	-	-	-	-
RP11-245J9.6	chr3	64019508	64019925	+	ENSG00000272181.1	antisense	-	-	-	-
RP11-245P10.6	chr1	228384114	228385016	-	ENSG00000270104.1	lincRNA	-	-	-	-
RP11-247A12.1	chr9	129097854	129100266	+	ENSG00000234055.1	antisense	-	-	-	-
RP11-247A12.2	chr9	129176771	129210548	+	ENSG00000204055.4	antisense	-	-	-	-
RP11-247A12.7	chr9	129170434	129170940	+	ENSG00000268707.1	lincRNA	-	-	-	-
RP11-247C2.1	chr15	74097106	74098414	-	ENSG00000214702.6	unprocessed_pseudogene	-	-	-	-
RP11-247C2.2	chr15	74125915	74129278	-	ENSG00000248540.2	lincRNA	-	-	-	-
RP11-247I13.11	chr22	31454251	31464204	+	ENSG00000240591.1	antisense	-	-	-	-
RP11-247I13.3	chr22	31559483	31559939	+	ENSG00000214093.3	processed_pseudogene	-	-	-	-
RP11-247L20.4	chr14	50326526	50327909	-	ENSG00000259071.1	lincRNA	-	-	-	-
RP11-248B24.1	chr14	91572444	91575271	-	ENSG00000279286.2	TEC	-	-	-	-
RP11-248J18.2	chr14	50662511	50663178	-	ENSG00000269906.1	sense_intronic	-	-	-	-
RP11-248J18.3	chr14	50723777	50724272	-	ENSG00000270062.1	sense_intronic	-	-	-	-
RP11-249L21.4	chr6	108907615	108907873	-	ENSG00000228834.1	processed_pseudogene	-	-	-	-
RP11-24C3.2	chr3	48440352	48446656	-	ENSG00000244380.1	antisense	-	-	-	-
RP11-24D15.1	chr15	73870950	73873366	-	ENSG00000260624.1	antisense	-	-	-	-
RP11-24F11.2	chr3	46364955	46407059	-	ENSG00000223552.1	antisense	-	-	-	-
RP11-24H2.3	chr13	53193667	53198540	+	ENSG00000279325.1	lincRNA	-	-	-	-
RP11-24I21.1	chr4	149154295	149278123	+	ENSG00000248210.1	lincRNA	-	-	-	-
RP11-24M17.4	chr15	75737820	75763321	+	ENSG00000260288.3	processed_transcript	-	-	-	-
RP11-24M17.5	chr15	75775553	75786898	+	ENSG00000187812.12	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-24N18.1	chr16	28830612	28837200	-	ENSG00000260570.1	antisense	-	-	-	-
RP11-250B2.3	chr6	80443344	80465927	+	ENSG00000233967.6	lincRNA	-	-	-	-
RP11-250B2.4	chr6	80440730	80441172	+	ENSG00000279022.1	TEC	-	-	-	-
RP11-250B2.5	chr6	80466958	80469080	+	ENSG00000260645.1	lincRNA	-	-	-	-
RP11-250B2.6	chr6	80355424	80356859	+	ENSG00000272129.1	lincRNA	-	-	-	-
RP11-252A24.3	chr16	74367462	74369826	+	ENSG00000261079.1	lincRNA	-	-	-	-
RP11-252C15.1	chr8	12765849	12811478	-	ENSG00000254813.5	lincRNA	-	-	-	-
RP11-252C24.3	chr10	65123667	65141185	+	ENSG00000282906.1	lincRNA	-	-	-	-
RP11-252I14.2	chr5	180257680	180258366	+	ENSG00000253908.1	processed_pseudogene	-	-	-	-
RP11-252K23.2	chr16	75379818	75381260	-	ENSG00000261783.1	sense_intronic	-	-	-	-
RP11-252M18.3	chr9	3875584	3878809	+	ENSG00000236724.1	antisense	-	-	-	-
RP11-252P19.1	chr6	165754189	165775780	+	ENSG00000236627.1	antisense	-	-	-	-
RP11-253E3.1	chr12	3071532	3072145	-	ENSG00000234589.4	processed_pseudogene	-	-	-	-
RP11-253E3.3	chr12	3041437	3044950	+	ENSG00000250899.3	lincRNA	-	-	-	-
RP11-254F19.2	chr16	84828263	84829242	+	ENSG00000260859.1	sense_intronic	-	-	-	-
RP11-254F7.1	chr2	10021578	10022825	+	ENSG00000260476.1	lincRNA	-	-	-	-
RP11-254F7.2	chr2	10039092	10040663	-	ENSG00000260077.1	lincRNA	-	-	-	-
RP11-254I22.3	chr5	96213346	96215075	-	ENSG00000249746.1	lincRNA	-	-	-	-
RP11-256I23.2	chr2	219559083	219559626	+	ENSG00000269068.1	antisense	-	-	-	-
RP11-256L11.3	chr12	109445410	109447497	-	ENSG00000255655.1	antisense	-	-	-	-
RP11-257O5.2	chr17	54956760	54958426	-	ENSG00000279059.1	TEC	-	-	-	-
RP11-257O5.4	chr17	54964474	54964679	+	ENSG00000275710.1	antisense	-	-	-	-
RP11-258F1.1	chr17	18172625	18184753	-	ENSG00000266677.1	antisense	-	-	-	-
RP11-258F1.2	chr17	18107334	18110463	-	ENSG00000279428.1	TEC	-	-	-	-
RP11-259A24.1	chr15	61598514	61605241	+	ENSG00000259530.1	lincRNA	-	-	-	-
RP11-259G18.1	chr17	46267037	46268694	+	ENSG00000261575.2	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-259G18.3	chr17	46259551	46260606	-	ENSG00000262539.1	processed_pseudogene	-	-	-	-
RP11-259K5.1	chr3	37216779	37217988	+	ENSG00000271653.1	lincRNA	-	-	-	-
RP11-259O18.5	chr12	8858143	8915276	-	ENSG00000282022.1	antisense	-	-	-	-
RP11-259P20.1	chr6	116492297	116497099	+	ENSG00000234117.2	antisense	-	-	-	-
RP11-25K21.1	chr1	161671978	161674824	-	ENSG00000234211.2	antisense	-	-	-	-
RP11-260G13.1	chr14	29390346	29436412	+	ENSG00000258107.1	lincRNA	-	-	-	-
RP11-260M2.1	chr2	210028417	210029156	+	ENSG00000272807.1	antisense	-	-	-	-
RP11-260N14.1	chr7	135246113	135317752	-	ENSG00000276067.2	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-261P13.5	chr13	20712431	20714146	+	ENSG00000279135.1	TEC	-	-	-	-
RP11-261P9.4	chr20	58710795	58711633	+	ENSG00000254419.1	sense_intronic	-	-	-	-
RP11-263K19.4	chr1	155195004	155205495	+	ENSG00000231064.7	antisense	-	-	-	-
RP11-263K19.6	chr1	155211151	155213819	-	ENSG00000236263.1	antisense	-	-	-	-
RP11-264B14.1	chr17	61034636	61070122	-	ENSG00000267207.1	antisense	-	-	-	-
RP11-264B17.2	chr16	28956687	28966883	-	ENSG00000260853.1	antisense	-	-	-	-
RP11-264B17.5	chr16	28989140	28990778	-	ENSG00000261552.1	antisense	-	-	-	-
RP11-264K23.1	chr7	124274679	124287544	-	ENSG00000243574.1	lincRNA	-	-	-	-
RP11-264L1.2	chr16	78550739	78553296	-	ENSG00000279129.1	TEC	-	-	-	-
RP11-264L1.4	chr16	78495926	78506568	-	ENSG00000260733.1	antisense	-	-	-	-
RP11-265B7.1	chr9	14790635	14791158	+	ENSG00000283647.1	antisense	-	-	-	-
RP11-265E18.1	chr7	32845394	32846061	+	ENSG00000272905.1	lincRNA	-	-	-	-
RP11-267M23.1	chr8	94427712	94429888	-	ENSG00000280123.1	TEC	-	-	-	-
RP11-267M23.4	chr8	94553722	94569745	+	ENSG00000253704.1	lincRNA	-	-	-	-
RP11-267M23.6	chr8	94565036	94565715	+	ENSG00000253175.1	processed_pseudogene	-	-	-	-
RP11-267M23.7	chr8	94594411	94594601	+	ENSG00000254283.1	processed_pseudogene	-	-	-	-
RP11-268J15.5	chr1	36323734	36329221	+	ENSG00000116883.8	antisense	-	-	-	-
RP11-268P4.4	chr12	22609228	22625015	-	ENSG00000257023.1	antisense	-	-	-	-
RP11-268P4.5	chr12	22601425	22618867	+	ENSG00000250166.2	lincRNA	-	-	-	-
RP11-269F19.2	chr1	44759037	44775810	-	ENSG00000225721.5	antisense	-	-	-	-
RP11-269F20.1	chr1	243545532	243548329	+	ENSG00000236031.1	antisense	-	-	-	-
RP11-269G24.2	chr17	63305262	63313521	-	ENSG00000263501.1	antisense	-	-	-	-
RP11-269G24.3	chr17	63391191	63431089	-	ENSG00000263644.1	antisense	-	-	-	-
RP11-269G24.4	chr17	63430468	63432211	-	ENSG00000265282.1	lincRNA	-	-	-	-
RP11-269G24.6	chr17	63454993	63455817	+	ENSG00000265971.1	lincRNA	-	-	-	-
RP11-269G24.7	chr17	63393355	63393586	+	ENSG00000271749.1	unprocessed_pseudogene	-	-	-	-
RP11-269G24.8	chr17	63331984	63332539	-	ENSG00000271919.1	transcribed_processed_pseudogene	-	-	-	-
RP11-26H16.4	chr1	21950679	21956871	-	ENSG00000283234.1	transcribed_unitary_pseudogene	-	-	-	-
RP11-271K11.1	chr17	30553697	30558962	+	ENSG00000264242.2	unprocessed_pseudogene	-	-	-	-
RP11-271K11.5	chr17	31038575	31059121	-	ENSG00000265798.6	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-272L13.2	chr1	97774669	97775026	+	ENSG00000230718.1	processed_pseudogene	-	-	-	-
RP11-272L13.4	chr1	97855575	97856825	+	ENSG00000270911.1	processed_pseudogene	-	-	-	-
RP11-272P10.2	chr9	13274510	13279187	-	ENSG00000234740.1	sense_intronic	-	-	-	-
RP11-274A11.3	chr16	81618505	81620563	+	ENSG00000279294.1	TEC	-	-	-	-
RP11-274A11.4	chr16	81630193	81632038	+	ENSG00000279841.1	TEC	-	-	-	-
RP11-274B18.4	chr9	68541036	68644442	+	ENSG00000226337.3	lincRNA	-	-	-	-
RP11-274B21.1	chr7	128533652	128615970	+	ENSG00000280828.1	unprocessed_pseudogene	-	-	-	-
RP11-274B21.2	chr7	128651185	128652334	+	ENSG00000243302.3	processed_pseudogene	-	-	-	-
RP11-274B21.3	chr7	128653969	128654722	+	ENSG00000243679.1	processed_pseudogene	-	-	-	-
RP11-274B21.4	chr7	128652841	128653243	+	ENSG00000230715.3	processed_pseudogene	-	-	-	-
RP11-274H2.2	chr3	146064042	146105204	+	ENSG00000243415.2	antisense	-	-	-	-
RP11-274H2.5	chr3	146059585	146061679	-	ENSG00000261051.1	sense_overlapping	-	-	-	-
RP11-274J7.2	chr12	63878787	63879474	+	ENSG00000256571.1	sense_intronic	-	-	-	-
RP11-274M17.3	chr12	74248637	74283669	-	ENSG00000257183.1	lincRNA	-	-	-	-
RP11-275I4.2	chr15	38671847	38689191	+	ENSG00000259747.1	lincRNA	-	-	-	-
RP11-276H1.3	chr16	12086746	12090302	-	ENSG00000175604.2	antisense	-	-	-	-
RP11-276H19.2	chr9	87008455	87042126	-	ENSG00000269994.1	lincRNA	-	-	-	-
RP11-276H7.2	chr1	16155211	16157329	+	ENSG00000227959.1	antisense	-	-	-	-
RP11-276H7.3	chr1	16159266	16161883	+	ENSG00000224621.1	antisense	-	-	-	-
RP11-277P12.20	chr12	10363769	10398506	+	ENSG00000245648.1	antisense	-	-	-	-
RP11-277P12.9	chr12	10358464	10361045	-	ENSG00000256155.1	lincRNA	-	-	-	-
RP11-278H7.1	chr1	243917402	244047317	+	ENSG00000226828.1	lincRNA	-	-	-	-
RP11-278H7.3	chr1	244107365	244109011	+	ENSG00000237759.1	lincRNA	-	-	-	-
RP11-278I4.2	chr8	119062942	119068782	-	ENSG00000254278.1	antisense	-	-	-	-
RP11-278J20.2	chr6	58071720	58073134	-	ENSG00000216687.2	processed_pseudogene	-	-	-	-
RP11-27I1.4	chr9	120793551	120799918	+	ENSG00000214654.7	protein_coding	-	-	-	-
RP11-27I1.6	chr9	120812475	120812845	-	ENSG00000270917.1	processed_pseudogene	-	-	-	-
RP11-280O1.2	chr1	165476841	165582155	-	ENSG00000237463.5	antisense	-	-	-	-
RP11-280O24.3	chr9	14204248	14205039	+	ENSG00000234982.1	processed_pseudogene	-	-	-	-
RP11-281A20.1	chr9	117840322	117897256	-	ENSG00000231901.1	lincRNA	-	-	-	-
RP11-281H11.1	chr8	5659679	5670077	-	ENSG00000254007.1	lincRNA	-	-	-	-
RP11-281N10.1	chr8	71779605	71792875	-	ENSG00000253287.1	lincRNA	-	-	-	-
RP11-281O15.5	chr5	178997969	178998815	-	ENSG00000254158.1	processed_pseudogene	-	-	-	-
RP11-282A11.4	chr13	106903150	106904099	-	ENSG00000277863.1	lincRNA	-	-	-	-
RP11-282I1.1	chr10	123356450	123517708	+	ENSG00000230131.5	lincRNA	-	-	-	-
RP11-282O18.3	chr12	123252030	123261483	-	ENSG00000235423.8	antisense	-	-	-	-
RP11-283G6.3	chr12	26125155	26126617	-	ENSG00000256894.1	antisense	-	-	-	-
RP11-283G6.4	chr12	26211164	26335856	-	ENSG00000256234.1	antisense	-	-	-	-
RP11-283G6.5	chr12	26230819	26319720	-	ENSG00000255750.5	antisense	-	-	-	-
RP11-283I3.2	chr12	203642	205094	+	ENSG00000256577.2	antisense	-	-	-	-
RP11-283I3.6	chr12	273954	277123	-	ENSG00000261799.1	sense_overlapping	-	-	-	-
RP11-284E5.1	chr2	190607660	190649840	-	ENSG00000284052.1	bidirectional_promoter_lncRNA	-	-	-	-
RP11-284F21.8	chr1	156509854	156511681	+	ENSG00000260460.1	lincRNA	-	-	-	-
RP11-284M14.1	chr4	142933195	143184861	-	ENSG00000250326.1	antisense	-	-	-	-
RP11-284N8.3	chr1	110653560	110657040	-	ENSG00000259834.1	lincRNA	-	-	-	-
RP11-285A1.1	chr15	78141243	78143173	+	ENSG00000260988.1	lincRNA	-	-	-	-
RP11-285F16.1	chr10	100412934	100413421	+	ENSG00000273030.1	lincRNA	-	-	-	-
RP11-285G1.2	chr10	44899614	44920220	-	ENSG00000234504.2	antisense	-	-	-	-
RP11-285G1.9	chr10	44937508	44955725	+	ENSG00000223462.2	lincRNA	-	-	-	-
RP11-285J16.1	chr3	37182107	37182734	+	ENSG00000271993.1	antisense	-	-	-	-
RP11-286B14.1	chr1	95510116	95782342	+	ENSG00000228971.2	lincRNA	-	-	-	-
RP11-286E11.1	chr4	107863479	107978799	-	ENSG00000245293.2	antisense	-	-	-	-
RP11-286E11.2	chr4	107936031	107941255	-	ENSG00000249604.1	antisense	-	-	-	-
RP11-286H14.4	chr7	129126518	129130793	+	ENSG00000230626.4	protein_coding	-	-	-	-
RP11-286N22.10	chr11	61496440	61500076	+	ENSG00000255931.1	lincRNA	-	-	-	-
RP11-286N22.16	chr11	61525708	61526602	-	ENSG00000279878.1	TEC	-	-	-	-
RP11-286N22.8	chr11	61429220	61485822	+	ENSG00000256591.5	protein_coding	-	-	-	-
RP11-287F9.2	chr4	175346358	175403110	-	ENSG00000248551.1	lincRNA	-	-	-	-
RP11-288C18.1	chr2	36839922	36842539	-	ENSG00000279519.1	TEC	-	-	-	-
RP11-288E14.2	chr11	93535468	93535816	+	ENSG00000234106.3	processed_pseudogene	-	-	-	-
RP11-288H12.3	chr6	160093082	160096212	+	ENSG00000213073.4	transcribed_processed_pseudogene	-	-	-	-
RP11-288I21.1	chr1	15720312	15736896	-	ENSG00000237938.5	antisense	-	-	-	-
RP11-288K12.1	chr12	1695830	1698044	-	ENSG00000271500.1	processed_pseudogene	-	-	-	-
RP11-288L9.4	chr1	27669468	27703063	+	ENSG00000225886.3	antisense	-	-	-	-
RP11-289A15.1	chr2	233545482	233547032	+	ENSG00000271639.1	processed_pseudogene	-	-	-	-
RP11-28H5.2	chr15	80693216	80693707	-	ENSG00000271983.1	lincRNA	-	-	-	-
RP11-290F5.1	chr4	184365183	184382306	-	ENSG00000249096.6	lincRNA	-	-	-	-
RP11-290H9.5	chr17	47279526	47280047	-	ENSG00000276790.1	antisense	-	-	-	-
RP11-290K4.2	chr3	158016216	158088997	-	ENSG00000242536.1	lincRNA	-	-	-	-
RP11-291B21.2	chr12	10553363	10558049	+	ENSG00000256039.1	lincRNA	-	-	-	-
RP11-291L19.1	chr1	45415020	45415344	+	ENSG00000236872.1	processed_pseudogene	-	-	-	-
RP11-293B7.1	chr1	183709305	183710240	-	ENSG00000270994.1	processed_pseudogene	-	-	-	-
RP11-293D9.2	chr8	30983459	30984321	-	ENSG00000253793.1	processed_pseudogene	-	-	-	-
RP11-293E1.1	chr17	45733353	45734669	-	ENSG00000265964.1	lincRNA	-	-	-	-
RP11-293M10.1	chr14	75238616	75269283	-	ENSG00000258740.1	lincRNA	-	-	-	-
RP11-293M10.2	chr14	75259411	75271950	+	ENSG00000258820.5	antisense	-	-	-	-
RP11-293M10.6	chr14	75423683	75427741	-	ENSG00000259319.1	antisense	-	-	-	-
RP11-293P20.2	chr1	24040835	24086799	+	ENSG00000225315.2	antisense	-	-	-	-
RP11-294N21.3	chr18	35144942	35145417	+	ENSG00000274400.1	lincRNA	-	-	-	-
RP11-295D4.1	chr16	4335870	4337818	-	ENSG00000262712.1	sense_intronic	-	-	-	-
RP11-295D4.3	chr16	4346694	4348648	-	ENSG00000280063.1	TEC	-	-	-	-
RP11-295D4.4	chr16	4426902	4427380	+	ENSG00000277170.1	sense_intronic	-	-	-	-
RP11-295D4.5	chr16	4430522	4431103	+	ENSG00000277440.1	sense_intronic	-	-	-	-
RP11-295G12.1	chr12	73760689	73798727	+	ENSG00000257750.1	lincRNA	-	-	-	-
RP11-295M18.6	chr1	220828676	220829211	-	ENSG00000272823.1	lincRNA	-	-	-	-
RP11-295P9.3	chr10	13631143	13668445	+	ENSG00000239665.8	processed_transcript	-	-	-	-
RP11-296A18.5	chr1	51250603	51251472	-	ENSG00000233406.5	processed_pseudogene	-	-	-	-
RP11-296E23.1	chr18	21380286	21451017	-	ENSG00000265751.1	antisense	-	-	-	-
RP11-296E3.2	chr1	98660388	98661059	-	ENSG00000280040.1	TEC	-	-	-	-
RP11-296E7.1	chr6	80064286	80070199	-	ENSG00000218418.2	processed_pseudogene	-	-	-	-
RP11-296I10.3	chr16	70156340	70173448	-	ENSG00000247228.2	antisense	-	-	-	-
RP11-296O14.2	chr1	173362397	173363733	-	ENSG00000231615.2	processed_pseudogene	-	-	-	-
RP11-296O14.3	chr1	173417793	173461362	-	ENSG00000203739.3	antisense	-	-	-	-
RP11-296P7.4	chr9	19026892	19028129	+	ENSG00000236680.1	processed_pseudogene	-	-	-	-
RP11-297A16.2	chr10	35098006	35127020	-	ENSG00000230534.6	antisense	-	-	-	-
RP11-297A16.4	chr10	34969909	34975578	+	ENSG00000283000.1	lincRNA	-	-	-	-
RP11-297B17.3	chr9	37002697	37008040	+	ENSG00000250850.2	antisense	-	-	-	-
RP11-297C4.1	chr16	30498766	30499554	-	ENSG00000261332.1	antisense	-	-	-	-
RP11-297C4.2	chr16	30477180	30489353	-	ENSG00000261346.1	antisense	-	-	-	-
RP11-297C4.3	chr16	30480588	30481346	-	ENSG00000260487.1	antisense	-	-	-	-
RP11-297C4.6	chr16	30379763	30380110	-	ENSG00000280137.1	TEC	-	-	-	-
RP11-297D21.2	chr16	67430667	67431464	-	ENSG00000261320.1	lincRNA	-	-	-	-
RP11-297D21.4	chr16	67481314	67505063	+	ENSG00000270049.2	antisense	-	-	-	-
RP11-297J22.1	chr2	120866378	120867403	-	ENSG00000271709.1	lincRNA	-	-	-	-
RP11-297L17.2	chr16	52607349	52613908	+	ENSG00000260963.1	lincRNA	-	-	-	-
RP11-297M9.1	chr16	9666885	9676843	-	ENSG00000260362.1	lincRNA	-	-	-	-
RP11-297N6.4	chr8	11797928	11802568	-	ENSG00000255046.1	lincRNA	-	-	-	-
RP11-298D21.1	chr16	83721119	83772936	-	ENSG00000260788.5	antisense	-	-	-	-
RP11-298D21.3	chr16	83710179	83717898	-	ENSG00000261103.1	antisense	-	-	-	-
RP11-298I3.1	chr14	22929609	22955562	+	ENSG00000257285.5	antisense	-	-	-	-
RP11-298I3.4	chr14	22982698	22999078	+	ENSG00000258457.5	antisense	-	-	-	-
RP11-298I3.6	chr14	23023083	23024217	-	ENSG00000279656.1	TEC	-	-	-	-
RP11-298J23.10	chr6	41780349	41790141	+	ENSG00000124593.15	protein_coding	-	-	-	-
RP11-298J23.8	chr6	41764292	41764460	-	ENSG00000269387.1	lincRNA	-	-	-	-
RP11-298P3.4	chr13	32425358	32432954	-	ENSG00000270008.1	processed_transcript	-	-	-	-
RP11-299D14.2	chr8	25834129	25840135	-	ENSG00000254178.1	lincRNA	-	-	-	-
RP11-299G20.2	chr15	101295419	101305737	+	ENSG00000259172.1	antisense	-	-	-	-
RP11-299H22.3	chr15	62227896	62253235	-	ENSG00000166104.14	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-299J3.8	chr3	122416207	122443180	+	ENSG00000272758.5	antisense	-	-	-	-
RP11-299J5.1	chr6	2561947	2564143	+	ENSG00000280423.1	TEC	-	-	-	-
RP11-299P2.1	chr18	63151114	63151320	-	ENSG00000267766.1	sense_intronic	-	-	-	-
RP11-29H23.5	chr1	155614726	155660245	-	ENSG00000246203.2	unprocessed_pseudogene	-	-	-	-
RP11-29H23.7	chr1	155566050	155566306	-	ENSG00000271267.1	processed_pseudogene	-	-	-	-
RP11-2B6.3	chr9	94166289	94200627	+	ENSG00000269946.1	lincRNA	-	-	-	-
RP11-2C24.3	chr16	30773532	30776033	-	ENSG00000280211.1	TEC	-	-	-	-
RP11-2C24.5	chr16	30821068	30822110	-	ENSG00000260082.1	processed_pseudogene	-	-	-	-
RP11-2C24.7	chr16	30821338	30821884	+	ENSG00000274678.1	lincRNA	-	-	-	-
RP11-2E11.5	chr7	130481491	130484392	-	ENSG00000259920.1	lincRNA	-	-	-	-
RP11-2E11.6	chr7	130495794	130498427	-	ENSG00000270823.1	antisense	-	-	-	-
RP11-2E11.9	chr7	130507660	130508282	+	ENSG00000270953.1	antisense	-	-	-	-
RP11-300G22.2	chr15	89704665	89705415	+	ENSG00000259561.1	sense_intronic	-	-	-	-
RP11-300J18.2	chr14	88010787	88015611	-	ENSG00000258407.1	antisense	-	-	-	-
RP11-300M24.1	chr6	164827750	164831630	+	ENSG00000227455.2	lincRNA	-	-	-	-
RP11-302B13.1	chr12	48903418	48903813	-	ENSG00000239617.1	processed_pseudogene	-	-	-	-
RP11-302B13.5	chr12	48903503	48957365	-	ENSG00000272822.1	protein_coding	-	-	-	-
RP11-302K17.3	chr10	102085476	102085730	-	ENSG00000224302.1	processed_pseudogene	-	-	-	-
RP11-302L19.3	chr6	170178681	170179660	+	ENSG00000273100.1	lincRNA	-	-	-	-
RP11-303G3.6	chr8	12580287	12581063	+	ENSG00000255122.1	processed_pseudogene	-	-	-	-
RP11-304F15.3	chr17	49845910	49848837	+	ENSG00000204584.1	antisense	-	-	-	-
RP11-304F15.7	chr17	49834239	49836454	+	ENSG00000262837.1	lincRNA	-	-	-	-
RP11-304L19.1	chr16	2091436	2095433	+	ENSG00000259933.6	sense_overlapping	-	-	-	-
RP11-304L19.11	chr16	2240487	2241818	+	ENSG00000261663.1	antisense	-	-	-	-
RP11-304L19.13	chr16	2268155	2273418	+	ENSG00000260778.5	lincRNA	-	-	-	-
RP11-304L19.3	chr16	2094830	2097026	-	ENSG00000261123.1	sense_intronic	-	-	-	-
RP11-304L19.4	chr16	2112335	2113342	+	ENSG00000261240.1	antisense	-	-	-	-
RP11-304M2.3	chr11	129279	186136	+	ENSG00000255229.1	antisense	-	-	-	-
RP11-304M2.5	chr11	203623	205470	+	ENSG00000254559.1	antisense	-	-	-	-
RP11-305D15.8	chr13	48340797	48341330	-	ENSG00000277684.1	antisense	-	-	-	-
RP11-305E17.4	chr1	100249090	100249311	+	ENSG00000230287.3	processed_pseudogene	-	-	-	-
RP11-305K5.1	chr3	156523740	156524247	-	ENSG00000272990.1	antisense	-	-	-	-
RP11-305L7.1	chr9	91104957	91107304	-	ENSG00000230537.1	lincRNA	-	-	-	-
RP11-305L7.5	chr9	91169585	91170045	-	ENSG00000230147.2	processed_pseudogene	-	-	-	-
RP11-305L7.7	chr9	91206175	91210299	-	ENSG00000273381.1	lincRNA	-	-	-	-
RP11-305O4.2	chr3	136055184	136055764	+	ENSG00000227267.3	processed_pseudogene	-	-	-	-
RP11-305O4.3	chr3	136087475	136087913	-	ENSG00000273455.1	antisense	-	-	-	-
RP11-305O6.3	chr12	65281657	65286728	+	ENSG00000250280.2	sense_intronic	-	-	-	-
RP11-307B6.3	chr1	201893842	201899978	+	ENSG00000223774.5	antisense	-	-	-	-
RP11-307C12.13	chr1	154937370	154938059	+	ENSG00000270361.1	lincRNA	-	-	-	-
RP11-307C18.1	chr7	98322853	98323430	+	ENSG00000272950.1	antisense	-	-	-	-
RP11-307C19.1	chr15	77525540	77534110	+	ENSG00000259362.2	lincRNA	-	-	-	-
RP11-307C19.2	chr15	77568970	77608888	+	ENSG00000259420.5	lincRNA	-	-	-	-
RP11-307E17.11	chr9	94347234	94347563	-	ENSG00000282886.1	processed_pseudogene	-	-	-	-
RP11-307E17.8	chr9	94332476	94360948	+	ENSG00000232063.1	lincRNA	-	-	-	-
RP11-307L14.2	chr5	65020614	65020989	+	ENSG00000272354.1	lincRNA	-	-	-	-
RP11-308N19.3	chr9	106615078	106615806	-	ENSG00000237062.1	lincRNA	-	-	-	-
RP11-309L24.10	chr7	128952527	128953316	-	ENSG00000275106.1	TEC	-	-	-	-
RP11-30K9.6	chr15	58768072	58770974	-	ENSG00000245975.2	lincRNA	-	-	-	-
RP11-30L3.2	chr18	49205912	49208781	+	ENSG00000266696.1	antisense	-	-	-	-
RP11-30P6.6	chr6	85387219	85390186	-	ENSG00000234155.1	lincRNA	-	-	-	-
RP11-310H4.1	chr7	55573171	55588336	+	ENSG00000223475.1	antisense	-	-	-	-
RP11-310H4.6	chr7	55656768	55678490	-	ENSG00000231317.1	unprocessed_pseudogene	-	-	-	-
RP11-310I24.1	chr12	29519731	29529974	+	ENSG00000257456.1	antisense	-	-	-	-
RP11-310P5.1	chr5	602620	612210	-	ENSG00000249650.1	antisense	-	-	-	-
RP11-310P5.2	chr5	524705	526594	+	ENSG00000250385.1	antisense	-	-	-	-
RP11-313F23.4	chr12	34191279	34218853	-	ENSG00000255652.3	lincRNA	-	-	-	-
RP11-313P18.1	chr15	51707995	51715220	-	ENSG00000259296.1	antisense	-	-	-	-
RP11-313P18.2	chr15	51693216	51695765	-	ENSG00000259241.1	lincRNA	-	-	-	-
RP11-314A20.1	chr17	4704816	4705217	-	ENSG00000213939.4	processed_pseudogene	-	-	-	-
RP11-314A20.2	chr17	4704230	4705529	+	ENSG00000244184.1	antisense	-	-	-	-
RP11-314A20.5	chr17	4731756	4732371	-	ENSG00000261898.2	antisense	-	-	-	-
RP11-314B1.2	chr2	225698514	225703654	+	ENSG00000273301.1	lincRNA	-	-	-	-
RP11-315D16.4	chr15	68267792	68277994	-	ENSG00000260657.2	lincRNA	-	-	-	-
RP11-315I20.3	chr1	145892847	145893483	+	ENSG00000244619.2	antisense	-	-	-	-
RP11-315O6.2	chr11	102467255	102498801	+	ENSG00000255482.1	antisense	-	-	-	-
RP11-316E14.2	chr14	74873684	74874254	+	ENSG00000258587.1	processed_pseudogene	-	-	-	-
RP11-316M1.12	chr1	150965245	150966256	+	ENSG00000259357.2	antisense	-	-	-	-
RP11-316M1.3	chr1	150973123	150975534	+	ENSG00000231073.1	antisense	-	-	-	-
RP11-316M21.6	chr10	100229667	100234000	+	ENSG00000227492.1	antisense	-	-	-	-
RP11-316M21.7	chr10	100190036	100190747	+	ENSG00000236308.1	antisense	-	-	-	-
RP11-316N24.2	chr3	154334809	154337047	-	ENSG00000279305.1	TEC	-	-	-	-
RP11-316O14.1	chr2	219497611	219498246	-	ENSG00000268603.1	antisense	-	-	-	-
RP11-317G22.2	chr4	48936582	48936880	+	ENSG00000251334.2	processed_pseudogene	-	-	-	-
RP11-317J19.1	chr11	86431590	86622867	+	ENSG00000254733.1	antisense	-	-	-	-
RP11-317J9.1	chr2	191154118	191156070	-	ENSG00000280083.1	TEC	-	-	-	-
RP11-317M11.1	chr4	53659208	53737156	+	ENSG00000249341.1	sense_intronic	-	-	-	-
RP11-317N12.1	chr8	33604856	34039008	+	ENSG00000253642.5	lincRNA	-	-	-	-
RP11-318A15.8	chr17	76709760	76710045	+	ENSG00000277382.1	antisense	-	-	-	-
RP11-318C24.2	chr1	175904762	175920513	-	ENSG00000227740.1	lincRNA	-	-	-	-
RP11-318G21.4	chr13	77939162	77944874	-	ENSG00000233379.1	lincRNA	-	-	-	-
RP11-319G6.1	chr3	139389815	139583319	+	ENSG00000248932.5	antisense	-	-	-	-
RP11-31E13.2	chr10	78696062	78697022	-	ENSG00000228683.1	lincRNA	-	-	-	-
RP11-31F15.2	chr1	113011687	113073105	-	ENSG00000238198.1	lincRNA	-	-	-	-
RP11-320A16.1	chr15	88989519	88990245	-	ENSG00000261549.2	processed_pseudogene	-	-	-	-
RP11-320H14.1	chr4	46243548	46244215	-	ENSG00000260878.1	sense_overlapping	-	-	-	-
RP11-320L11.2	chr11	86283927	86284668	+	ENSG00000254783.1	processed_pseudogene	-	-	-	-
RP11-320N7.2	chr12	4020977	4026658	+	ENSG00000256969.1	lincRNA	-	-	-	-
RP11-321G12.1	chr15	63390136	63438320	+	ENSG00000259459.5	lincRNA	-	-	-	-
RP11-321L2.1	chr9	23829670	23849914	+	ENSG00000231460.2	lincRNA	-	-	-	-
RP11-322D14.1	chr16	57013071	57014100	-	ENSG00000259922.1	processed_pseudogene	-	-	-	-
RP11-322D14.2	chr16	57052505	57058497	-	ENSG00000260145.1	antisense	-	-	-	-
RP11-322E11.2	chr18	35403996	35406528	-	ENSG00000275512.1	lincRNA	-	-	-	-
RP11-322E11.5	chr18	35443869	35467088	-	ENSG00000267583.5	lincRNA	-	-	-	-
RP11-323C15.2	chr20	46901143	46901726	-	ENSG00000236028.1	lincRNA	-	-	-	-
RP11-323F24.4	chr15	56908312	56908635	-	ENSG00000275343.1	sense_intronic	-	-	-	-
RP11-323I15.5	chr15	35099022	35169698	-	ENSG00000259336.1	lincRNA	-	-	-	-
RP11-324E6.10	chr12	122634130	122634673	+	ENSG00000274191.1	lincRNA	-	-	-	-
RP11-324E6.6	chr12	122687125	122715979	+	ENSG00000256249.1	lincRNA	-	-	-	-
RP11-324I22.2	chr10	35219894	35230598	-	ENSG00000233200.1	lincRNA	-	-	-	-
RP11-324I22.3	chr10	35210416	35210750	+	ENSG00000269952.1	sense_intronic	-	-	-	-
RP11-324L17.1	chr2	176611437	176612249	-	ENSG00000272551.1	lincRNA	-	-	-	-
RP11-324O2.3	chr10	112395813	112425589	-	ENSG00000232934.7	antisense	-	-	-	-
RP11-325D15.2	chr10	76558350	76560994	-	ENSG00000269256.1	antisense	-	-	-	-
RP11-325F22.2	chr7	104941063	104962334	+	ENSG00000237513.1	lincRNA	-	-	-	-
RP11-325K4.2	chr16	56941028	56941726	+	ENSG00000261114.1	sense_intronic	-	-	-	-
RP11-325K4.3	chr16	56940278	56941342	+	ENSG00000261270.1	sense_intronic	-	-	-	-
RP11-325L7.1	chr5	138032774	138037266	+	ENSG00000246323.2	antisense	-	-	-	-
RP11-325L7.2	chr5	138039199	138039979	+	ENSG00000250260.1	lincRNA	-	-	-	-
RP11-325P15.1	chr1	147050817	147052481	+	ENSG00000225603.3	processed_pseudogene	-	-	-	-
RP11-326A19.3	chr15	89087078	89088267	-	ENSG00000261407.1	antisense	-	-	-	-
RP11-326C3.11	chr11	318640	325631	+	ENSG00000251661.3	antisense	-	-	-	-
RP11-326C3.12	chr11	327171	330122	+	ENSG00000255328.1	lincRNA	-	-	-	-
RP11-326C3.13	chr11	325703	326294	-	ENSG00000270030.1	lincRNA	-	-	-	-
RP11-326C3.14	chr11	322186	322727	-	ENSG00000270105.1	lincRNA	-	-	-	-
RP11-326C3.15	chr11	333192	333688	+	ENSG00000270972.1	lincRNA	-	-	-	-
RP11-326C3.16	chr11	243099	243483	-	ENSG00000277290.1	processed_pseudogene	-	-	-	-
RP11-326C3.2	chr11	287305	288987	+	ENSG00000255026.1	antisense	-	-	-	-
RP11-326C3.4	chr11	303856	304144	-	ENSG00000255533.1	processed_pseudogene	-	-	-	-
RP11-326C3.7	chr11	310139	311141	-	ENSG00000254910.1	antisense	-	-	-	-
RP11-326G21.1	chr1	149264252	149264816	+	ENSG00000272755.1	lincRNA	-	-	-	-
RP11-326L17.1	chr15	75950464	75951144	-	ENSG00000260685.1	processed_pseudogene	-	-	-	-
RP11-326L2.1	chr8	17703988	17706187	+	ENSG00000253168.1	antisense	-	-	-	-
RP11-327E2.5	chr10	71364243	71366374	+	ENSG00000279406.1	TEC	-	-	-	-
RP11-327F22.1	chr16	50727417	50742815	-	ENSG00000261644.2	antisense	-	-	-	-
RP11-327F22.6	chr16	50712844	50713589	+	ENSG00000270120.1	sense_intronic	-	-	-	-
RP11-327J17.2	chr15	96171581	96174339	+	ENSG00000259359.1	lincRNA	-	-	-	-
RP11-328C8.2	chr12	42431665	42433357	-	ENSG00000257376.1	processed_pseudogene	-	-	-	-
RP11-328D5.4	chr1	207959292	207969329	+	ENSG00000284237.1	lincRNA	-	-	-	-
RP11-328J6.1	chr12	103080950	103178675	-	ENSG00000257703.5	lincRNA	-	-	-	-
RP11-329B9.3	chr3	184741937	184742462	+	ENSG00000273403.1	lincRNA	-	-	-	-
RP11-329N15.3	chr3	146504570	146506560	-	ENSG00000279320.1	TEC	-	-	-	-
RP11-32D16.1	chr5	158485190	158534438	+	ENSG00000254135.1	lincRNA	-	-	-	-
RP11-330M2.4	chr9	96910076	96910405	+	ENSG00000269907.1	processed_pseudogene	-	-	-	-
RP11-330O11.3	chr10	30831828	30833387	-	ENSG00000272914.1	sense_intronic	-	-	-	-
RP11-331F4.4	chr16	75226074	75228197	+	ENSG00000240338.5	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-331G2.7	chr3	39152906	39154723	+	ENSG00000283849.1	antisense	-	-	-	-
RP11-332H14.1	chr2	105249404	105249794	-	ENSG00000272861.1	lincRNA	-	-	-	-
RP11-332H14.2	chr2	105334027	105337475	-	ENSG00000272994.1	lincRNA	-	-	-	-
RP11-332H18.3	chr17	61382785	61384680	+	ENSG00000266934.1	sense_intronic	-	-	-	-
RP11-332J15.4	chr5	6779458	6779998	+	ENSG00000272071.1	lincRNA	-	-	-	-
RP11-332M2.1	chr3	129847048	129847957	-	ENSG00000203644.3	sense_intronic	-	-	-	-
RP11-333A23.4	chr8	70471134	70485687	+	ENSG00000253967.1	lincRNA	-	-	-	-
RP11-333E1.1	chr17	5192084	5248069	+	ENSG00000261879.5	antisense	-	-	-	-
RP11-333E1.2	chr17	5240508	5241543	-	ENSG00000263164.1	lincRNA	-	-	-	-
RP11-333E13.2	chr4	39973128	39973442	-	ENSG00000250568.1	processed_pseudogene	-	-	-	-
RP11-333E13.4	chr4	40042917	40057199	-	ENSG00000205794.4	transcribed_processed_pseudogene	-	-	-	-
RP11-333I13.1	chr2	46777783	46780245	+	ENSG00000260977.1	lincRNA	-	-	-	-
RP11-333O1.1	chr2	12715415	12716227	+	ENSG00000261117.1	lincRNA	-	-	-	-
RP11-334A14.2	chr1	52993201	52993702	-	ENSG00000236360.2	processed_pseudogene	-	-	-	-
RP11-334C17.3	chr17	80147250	80148596	+	ENSG00000279259.1	TEC	-	-	-	-
RP11-334C17.5	chr17	80200673	80205949	-	ENSG00000262580.5	antisense	-	-	-	-
RP11-334C17.6	chr17	80149627	80149798	+	ENSG00000275479.1	lincRNA	-	-	-	-
RP11-334G22.1	chr2	58241349	58241686	+	ENSG00000273063.1	antisense	-	-	-	-
RP11-335G20.7	chr1	25336429	25337465	-	ENSG00000259984.1	unprocessed_pseudogene	-	-	-	-
RP11-335L23.5	chr4	183094423	183095056	-	ENSG00000272784.1	lincRNA	-	-	-	-
RP11-336A10.2	chr10	5712174	5744067	-	ENSG00000226647.2	antisense	-	-	-	-
RP11-336K24.12	chr1	155978799	155982986	+	ENSG00000273002.1	antisense	-	-	-	-
RP11-336K24.5	chr1	155991390	156001787	+	ENSG00000224276.1	antisense	-	-	-	-
RP11-337C18.10	chr1	147173186	147252659	+	ENSG00000273071.1	processed_transcript	-	-	-	-
RP11-337N6.1	chr2	177306373	177310572	+	ENSG00000271996.1	antisense	-	-	-	-
RP11-338E21.1	chr12	64599078	64609459	-	ENSG00000256670.1	antisense	-	-	-	-
RP11-338K17.10	chr12	123754246	123754794	-	ENSG00000280300.1	TEC	-	-	-	-
RP11-338K17.6	chr12	123655528	123656128	+	ENSG00000278861.1	TEC	-	-	-	-
RP11-338L22.2	chr17	29863402	29866092	+	ENSG00000263477.1	antisense	-	-	-	-
RP11-338N10.1	chr1	7693124	7694844	-	ENSG00000270171.1	lincRNA	-	-	-	-
RP11-338N10.2	chr1	7698303	7698872	-	ENSG00000270035.1	lincRNA	-	-	-	-
RP11-338N10.3	chr1	7700704	7700970	-	ENSG00000269978.1	lincRNA	-	-	-	-
RP11-339B21.10	chr9	128431598	128432006	+	ENSG00000273186.1	sense_intronic	-	-	-	-
RP11-339B21.13	chr9	128316337	128316909	+	ENSG00000272696.1	antisense	-	-	-	-
RP11-339B21.8	chr9	128444587	128446628	+	ENSG00000228510.2	processed_pseudogene	-	-	-	-
RP11-339N8.1	chr9	108701370	108703092	-	ENSG00000231678.2	lincRNA	-	-	-	-
RP11-33B1.1	chr4	119454791	119552025	+	ENSG00000245958.6	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-33B1.3	chr4	119456350	119457277	+	ENSG00000250950.1	lincRNA	-	-	-	-
RP11-33B1.4	chr4	119409333	119410233	+	ENSG00000260091.1	lincRNA	-	-	-	-
RP11-33I11.2	chr8	60808735	60809606	-	ENSG00000254432.1	antisense	-	-	-	-
RP11-33N16.3	chr14	89412312	89954659	-	ENSG00000259053.1	processed_transcript	-	-	-	-
RP11-33O4.1	chr2	219069354	219069809	-	ENSG00000272644.1	lincRNA	-	-	-	-
RP11-340E6.1	chr3	141660536	141729405	+	ENSG00000242104.4	transcribed_unitary_pseudogene	-	-	-	-
RP11-340F14.6	chr12	121190868	121191518	+	ENSG00000274029.1	lincRNA	-	-	-	-
RP11-340I6.5	chr7	63876341	63877350	+	ENSG00000225451.1	processed_pseudogene	-	-	-	-
RP11-340L3.1	chr14	32879246	32882830	+	ENSG00000280281.1	TEC	-	-	-	-
RP11-342A23.1	chr15	84053113	84080097	-	ENSG00000259609.1	unprocessed_pseudogene	-	-	-	-
RP11-342A23.2	chr15	83962176	83962583	+	ENSG00000274128.1	sense_intronic	-	-	-	-
RP11-342K2.1	chr17	62003700	62007518	-	ENSG00000279133.1	TEC	-	-	-	-
RP11-342M1.7	chr1	42886597	42888767	-	ENSG00000233708.1	processed_pseudogene	-	-	-	-
RP11-342M3.2	chr10	79507597	79510922	-	ENSG00000235705.5	transcribed_processed_pseudogene	-	-	-	-
RP11-342M3.5	chr10	79382328	79409274	+	ENSG00000235426.2	antisense	-	-	-	-
RP11-343B18.2	chr15	88797413	88798734	-	ENSG00000259676.1	lincRNA	-	-	-	-
RP11-343B5.1	chr3	142043623	142044198	-	ENSG00000233597.3	processed_pseudogene	-	-	-	-
RP11-343C2.11	chr16	69299682	69322700	+	ENSG00000260914.3	protein_coding	-	-	-	-
RP11-343C2.7	chr16	69335276	69351730	-	ENSG00000259900.5	protein_coding	-	-	-	-
RP11-343H19.1	chr16	56708772	56729968	-	ENSG00000261302.5	antisense	-	-	-	-
RP11-343N15.2	chr1	121412719	121429274	+	ENSG00000231429.2	lincRNA	-	-	-	-
RP11-344J7.4	chr6	43844878	43852317	-	ENSG00000283215.1	lincRNA	-	-	-	-
RP11-344N10.5	chr10	73098044	73101297	-	ENSG00000272630.1	lincRNA	-	-	-	-
RP11-344P13.4	chr1	121494379	121510383	-	ENSG00000228826.2	lincRNA	-	-	-	-
RP11-344P13.6	chr1	121518366	121518829	-	ENSG00000272583.1	lincRNA	-	-	-	-
RP11-345J4.5	chr16	29443230	29454651	-	ENSG00000261740.6	protein_coding	-	-	-	-
RP11-345J4.6	chr16	29449191	29449625	+	ENSG00000260335.1	unprocessed_pseudogene	-	-	-	-
RP11-345K9.2	chr9	88177695	88178578	+	ENSG00000279154.1	TEC	-	-	-	-
RP11-345P4.10	chr1	1659325	1662602	+	ENSG00000272004.1	antisense	-	-	-	-
RP11-345P4.6	chr1	1671990	1674397	+	ENSG00000269737.2	transcribed_processed_pseudogene	-	-	-	-
RP11-345P4.9	chr1	1613758	1615795	-	ENSG00000272106.1	antisense	-	-	-	-
RP11-346C20.3	chr16	73060470	73062316	+	ENSG00000271009.2	lincRNA	-	-	-	-
RP11-347C12.11	chr16	30359825	30360336	+	ENSG00000274653.1	antisense	-	-	-	-
RP11-347C12.12	chr16	30336400	30343336	+	ENSG00000273724.1	unprocessed_pseudogene	-	-	-	-
RP11-347C12.3	chr16	30204316	30209071	-	ENSG00000258130.7	protein_coding	-	-	-	-
RP11-347C18.1	chr8	94891239	94892107	+	ENSG00000243979.2	processed_pseudogene	-	-	-	-
RP11-347C18.3	chr8	94950037	94951396	+	ENSG00000253878.5	sense_intronic	-	-	-	-
RP11-347C18.4	chr8	94974573	94974853	-	ENSG00000253528.2	processed_pseudogene	-	-	-	-
RP11-347C18.5	chr8	94884609	94885070	+	ENSG00000272509.1	antisense	-	-	-	-
RP11-347E10.1	chr11	110355130	110406400	+	ENSG00000254416.5	lincRNA	-	-	-	-
RP11-347H15.1	chr11	50170156	50190441	+	ENSG00000255442.1	unprocessed_pseudogene	-	-	-	-
RP11-347H15.4	chr11	50298579	50304656	+	ENSG00000254518.1	lincRNA	-	-	-	-
RP11-347H15.5	chr11	50279828	50298452	-	ENSG00000255042.3	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-347I19.7	chr12	121800797	121803403	+	ENSG00000274292.1	lincRNA	-	-	-	-
RP11-347I19.8	chr12	121797511	121801972	+	ENSG00000272849.1	lincRNA	-	-	-	-
RP11-347L15.1	chr17	56803841	56804269	-	ENSG00000283209.1	sense_intronic	-	-	-	-
RP11-348A7.1	chr1	40938104	40939763	-	ENSG00000228940.1	unprocessed_pseudogene	-	-	-	-
RP11-348H3.2	chr1	212824027	212824505	+	ENSG00000236905.2	processed_pseudogene	-	-	-	-
RP11-34A14.3	chr10	98252023	98256575	+	ENSG00000230928.1	antisense	-	-	-	-
RP11-34D15.2	chr10	100335563	100346390	-	ENSG00000231188.1	antisense	-	-	-	-
RP11-34F13.2	chr15	67834310	67838879	-	ENSG00000245719.1	lincRNA	-	-	-	-
RP11-34F13.3	chr15	67832725	67873866	+	ENSG00000259410.5	processed_transcript	-	-	-	-
RP11-34F20.7	chr13	50125816	50128463	+	ENSG00000274270.1	sense_intronic	-	-	-	-
RP11-350D17.3	chr11	34709600	34710161	+	ENSG00000271369.1	processed_pseudogene	-	-	-	-
RP11-350E12.5	chr9	87944276	87945023	-	ENSG00000238110.1	processed_pseudogene	-	-	-	-
RP11-350F16.1	chr8	46922561	46928832	+	ENSG00000253745.1	lincRNA	-	-	-	-
RP11-350F16.2	chr8	46930840	46934446	-	ENSG00000253782.1	lincRNA	-	-	-	-
RP11-350G8.5	chr1	154402328	154406564	-	ENSG00000228013.1	antisense	-	-	-	-
RP11-350N15.3	chr8	38400536	38401683	-	ENSG00000254981.1	antisense	-	-	-	-
RP11-350N15.4	chr8	38421889	38426096	+	ENSG00000255201.1	antisense	-	-	-	-
RP11-350N15.5	chr8	38382364	38383461	+	ENSG00000272092.1	lincRNA	-	-	-	-
RP11-350N15.6	chr8	38408048	38408742	-	ENSG00000272159.1	antisense	-	-	-	-
RP11-351A11.1	chr6	118934785	119031541	+	ENSG00000253194.1	antisense	-	-	-	-
RP11-351I21.11	chr8	12412827	12414373	+	ENSG00000270074.1	lincRNA	-	-	-	-
RP11-351I21.6	chr8	12378679	12380265	-	ENSG00000255556.2	processed_pseudogene	-	-	-	-
RP11-351I21.7	chr8	12374366	12375546	-	ENSG00000254423.1	processed_pseudogene	-	-	-	-
RP11-351I24.1	chr11	10302657	10303704	-	ENSG00000254554.1	antisense	-	-	-	-
RP11-351M8.1	chr15	80896191	80909777	-	ENSG00000259649.4	antisense	-	-	-	-
RP11-351O1.3	chr10	63489461	63489638	+	ENSG00000224412.1	processed_pseudogene	-	-	-	-
RP11-352D3.2	chr20	4070152	4075165	-	ENSG00000205300.3	lincRNA	-	-	-	-
RP11-352E6.2	chr4	12640298	12640637	-	ENSG00000249780.1	processed_pseudogene	-	-	-	-
RP11-352G18.2	chr15	66314914	66331703	-	ENSG00000260773.1	antisense	-	-	-	-
RP11-352G9.1	chr3	195913078	195913683	-	ENSG00000273009.1	lincRNA	-	-	-	-
RP11-352M15.1	chr12	45481871	45610620	-	ENSG00000257657.2	lincRNA	-	-	-	-
RP11-352M15.2	chr12	45718046	45727775	-	ENSG00000273015.2	lincRNA	-	-	-	-
RP11-353N4.5	chr1	149676851	149747818	-	ENSG00000234232.7	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-353N4.6	chr1	149607765	149612402	+	ENSG00000275557.1	lincRNA	-	-	-	-
RP11-354A14.1	chr8	81885377	81923193	+	ENSG00000254689.1	lincRNA	-	-	-	-
RP11-354M1.2	chr16	68814330	68823526	-	ENSG00000260798.1	antisense	-	-	-	-
RP11-354P11.2	chr17	30238741	30252237	+	ENSG00000266120.1	antisense	-	-	-	-
RP11-355B11.2	chr2	61471188	61484130	+	ENSG00000270820.5	antisense	-	-	-	-
RP11-355N15.3	chr15	58454327	58454982	+	ENSG00000277229.1	sense_intronic	-	-	-	-
RP11-356C4.3	chr16	90105095	90106316	-	ENSG00000260507.1	lincRNA	-	-	-	-
RP11-356C4.5	chr16	90110574	90168225	-	ENSG00000261172.1	lincRNA	-	-	-	-
RP11-356C4.6	chr16	90174062	90175865	-	ENSG00000277349.1	unprocessed_pseudogene	-	-	-	-
RP11-356I2.4	chr6	137823673	137868233	-	ENSG00000237499.6	antisense	-	-	-	-
RP11-356N1.2	chr1	108040263	108076020	+	ENSG00000226822.2	lincRNA	-	-	-	-
RP11-357D18.1	chr5	67463809	67475592	-	ENSG00000250978.5	processed_transcript	-	-	-	-
RP11-357G3.2	chr4	3312512	3313058	+	ENSG00000248840.2	transcribed_processed_pseudogene	-	-	-	-
RP11-357H14.17	chr17	48635923	48647023	-	ENSG00000272763.1	lincRNA	-	-	-	-
RP11-358B23.5	chr17	42268587	42269807	+	ENSG00000267758.1	antisense	-	-	-	-
RP11-358B23.6	chr17	42233832	42235469	+	ENSG00000280295.1	TEC	-	-	-	-
RP11-358B23.7	chr17	42272069	42275571	-	ENSG00000278829.1	sense_intronic	-	-	-	-
RP11-358D14.2	chr20	63448051	63449329	+	ENSG00000226390.1	antisense	-	-	-	-
RP11-358H18.3	chr11	17695022	17697471	+	ENSG00000254586.1	lincRNA	-	-	-	-
RP11-358M14.2	chr9	4299390	4306046	+	ENSG00000228322.1	antisense	-	-	-	-
RP11-358N2.2	chr20	32355053	32355734	+	ENSG00000277692.1	lincRNA	-	-	-	-
RP11-359B12.2	chr12	974133	991190	-	ENSG00000250132.6	antisense	-	-	-	-
RP11-359E3.4	chr10	86749754	86756298	-	ENSG00000272631.1	antisense	-	-	-	-
RP11-359E8.5	chr1	211583015	211583725	-	ENSG00000261314.1	sense_overlapping	-	-	-	-
RP11-359J14.2	chr12	22460519	22463914	-	ENSG00000256973.1	lincRNA	-	-	-	-
RP11-359J6.1	chr9	86414282	86414570	+	ENSG00000235819.1	lincRNA	-	-	-	-
RP11-359K18.3	chr1	162560227	162561308	-	ENSG00000259788.1	antisense	-	-	-	-
RP11-359P5.1	chr5	123036271	123054667	+	ENSG00000249996.1	antisense	-	-	-	-
RP11-35G22.1	chr8	108226200	108227544	+	ENSG00000253754.1	antisense	-	-	-	-
RP11-35O15.1	chr15	98646951	98647371	-	ENSG00000259424.1	antisense	-	-	-	-
RP11-35O15.2	chr15	98660210	98660668	+	ENSG00000278022.1	sense_intronic	-	-	-	-
RP11-360D2.2	chr1	173741674	173741928	+	ENSG00000225591.2	processed_pseudogene	-	-	-	-
RP11-360F5.1	chr4	39112677	39126818	-	ENSG00000249207.1	antisense	-	-	-	-
RP11-360F5.3	chr4	39133913	39135608	+	ENSG00000249685.1	lincRNA	-	-	-	-
RP11-360O19.4	chr6	10511036	10514546	-	ENSG00000237685.1	antisense	-	-	-	-
RP11-360P21.2	chr3	179101366	179147973	-	ENSG00000229102.1	lincRNA	-	-	-	-
RP11-361H10.3	chr14	76235817	76263474	+	ENSG00000258454.1	sense_overlapping	-	-	-	-
RP11-361M10.3	chr15	72605183	72612326	+	ENSG00000260144.1	unprocessed_pseudogene	-	-	-	-
RP11-362K14.5	chr3	169777192	169780334	-	ENSG00000269984.1	antisense	-	-	-	-
RP11-362K14.6	chr3	169794962	169796213	+	ENSG00000270096.1	antisense	-	-	-	-
RP11-362K14.7	chr3	169793495	169793966	+	ENSG00000270135.1	antisense	-	-	-	-
RP11-363J20.1	chr14	69183020	69214092	-	ENSG00000258957.1	lincRNA	-	-	-	-
RP11-363K21.1	chr2	184593577	184599008	-	ENSG00000283839.1	antisense	-	-	-	-
RP11-363N22.2	chr10	933026	942743	+	ENSG00000229869.1	antisense	-	-	-	-
RP11-363N22.3	chr10	971146	988341	-	ENSG00000205740.2	processed_transcript	-	-	-	-
RP11-364L4.3	chr4	143286293	143329858	+	ENSG00000250969.1	lincRNA	-	-	-	-
RP11-365H22.2	chr4	51918772	51919381	+	ENSG00000272576.1	lincRNA	-	-	-	-
RP11-365H23.1	chr6	149112009	149112672	-	ENSG00000219487.2	processed_pseudogene	-	-	-	-
RP11-365N19.2	chr14	102933574	102937177	+	ENSG00000259515.1	antisense	-	-	-	-
RP11-365O16.3	chr1	224208747	224213279	-	ENSG00000232628.5	sense_intronic	-	-	-	-
RP11-366L20.2	chr12	65851340	65882167	-	ENSG00000197301.7	antisense	-	-	-	-
RP11-366L20.3	chr12	65934777	65948479	-	ENSG00000256083.1	antisense	-	-	-	-
RP11-366M4.17	chr4	165045969	165046280	+	ENSG00000249617.1	processed_pseudogene	-	-	-	-
RP11-367B6.2	chr10	75742740	75743755	+	ENSG00000228280.1	sense_intronic	-	-	-	-
RP11-367E12.4	chr8	73984493	73984883	+	ENSG00000253833.1	processed_pseudogene	-	-	-	-
RP11-367G18.1	chr6	113623535	113650074	-	ENSG00000230943.1	lincRNA	-	-	-	-
RP11-367H1.1	chr2	241581922	241582726	+	ENSG00000273113.1	lincRNA	-	-	-	-
RP11-367J11.2	chr4	7030554	7046231	-	ENSG00000245748.1	antisense	-	-	-	-
RP11-367J11.3	chr4	7094571	7103385	-	ENSG00000245468.3	lincRNA	-	-	-	-
RP11-367J7.3	chr1	157691762	157696459	+	ENSG00000227217.1	antisense	-	-	-	-
RP11-368I23.3	chr3	168927475	168927919	+	ENSG00000272797.1	lincRNA	-	-	-	-
RP11-368I23.4	chr3	168928169	168928598	+	ENSG00000273177.1	lincRNA	-	-	-	-
RP11-368I7.6	chr16	89684642	89685304	+	ENSG00000275734.1	antisense	-	-	-	-
RP11-369K17.1	chr8	120913065	121119754	+	ENSG00000253619.1	lincRNA	-	-	-	-
RP11-36C20.1	chr5	33162179	33162807	+	ENSG00000240376.1	processed_pseudogene	-	-	-	-
RP11-36I17.2	chr16	53628256	53628816	-	ENSG00000275191.1	sense_intronic	-	-	-	-
RP11-370A5.1	chr18	22723491	22907721	-	ENSG00000266850.1	antisense	-	-	-	-
RP11-370A5.2	chr18	22882825	22883357	-	ENSG00000273232.1	sense_intronic	-	-	-	-
RP11-370B11.3	chr9	22767175	22768316	+	ENSG00000224549.1	lincRNA	-	-	-	-
RP11-370I10.10	chr12	48327942	48328472	-	ENSG00000275228.1	lincRNA	-	-	-	-
RP11-370I10.11	chr12	48360920	48361377	+	ENSG00000273765.1	lincRNA	-	-	-	-
RP11-370I10.12	chr12	48198387	48202031	+	ENSG00000269514.1	lincRNA	-	-	-	-
RP11-370I10.2	chr12	48231098	48284210	-	ENSG00000258234.1	lincRNA	-	-	-	-
RP11-370I10.4	chr12	48333755	48333901	-	ENSG00000258273.1	unprocessed_pseudogene	-	-	-	-
RP11-370I10.6	chr12	48350945	48442411	+	ENSG00000257735.1	antisense	-	-	-	-
RP11-370K11.1	chr1	243702857	243740821	-	ENSG00000232184.1	sense_intronic	-	-	-	-
RP11-371E8.4	chr14	93184973	93218586	+	ENSG00000259066.5	protein_coding	-	-	-	-
RP11-372E1.1	chr3	142827096	142827728	-	ENSG00000240950.1	processed_pseudogene	-	-	-	-
RP11-372E1.4	chr3	142926675	142942534	+	ENSG00000243818.4	antisense	-	-	-	-
RP11-372H2.1	chr3	41162287	41168547	-	ENSG00000233919.1	lincRNA	-	-	-	-
RP11-373D23.2	chr2	28396815	28397110	+	ENSG00000270640.1	sense_intronic	-	-	-	-
RP11-373D23.3	chr2	28425945	28426719	+	ENSG00000270210.1	lincRNA	-	-	-	-
RP11-373E16.3	chr3	170656562	170662123	+	ENSG00000244738.1	sense_intronic	-	-	-	-
RP11-373N22.3	chr5	148268307	148383783	-	ENSG00000247199.3	antisense	-	-	-	-
RP11-374P20.4	chr9	134054290	134058805	+	ENSG00000235138.1	antisense	-	-	-	-
RP11-375I20.6	chr3	134347288	134349233	-	ENSG00000260633.1	lincRNA	-	-	-	-
RP11-375N15.2	chr8	9555144	9556520	-	ENSG00000272267.2	antisense	-	-	-	-
RP11-377G16.2	chr4	80183280	80190169	-	ENSG00000248719.1	antisense	-	-	-	-
RP11-378A13.1	chr2	218255319	218257366	+	ENSG00000261338.2	sense_overlapping	-	-	-	-
RP11-378A13.2	chr2	218398743	218399219	-	ENSG00000273361.1	antisense	-	-	-	-
RP11-378J18.8	chr1	222658867	222661512	-	ENSG00000272750.1	antisense	-	-	-	-
RP11-379B18.5	chr3	125827238	125916384	-	ENSG00000241288.7	processed_transcript	-	-	-	-
RP11-379B8.1	chr6	81845185	81933480	-	ENSG00000226453.1	lincRNA	-	-	-	-
RP11-379F4.4	chr3	158732263	158784070	+	ENSG00000240207.6	antisense	-	-	-	-
RP11-379F4.7	chr3	158693120	158693768	-	ENSG00000272087.1	lincRNA	-	-	-	-
RP11-379I19.1	chr8	59561327	59593701	-	ENSG00000253260.1	lincRNA	-	-	-	-
RP11-379I19.3	chr8	59601378	59613775	+	ENSG00000253879.1	lincRNA	-	-	-	-
RP11-379K17.9	chr3	170062244	170062951	+	ENSG00000242583.1	processed_pseudogene	-	-	-	-
RP11-379K22.2	chr15	80554609	80562944	-	ENSG00000259175.1	antisense	-	-	-	-
RP11-379P1.4	chr9	86132622	86132851	+	ENSG00000233713.2	processed_pseudogene	-	-	-	-
RP11-379P15.1	chr11	8169167	8178903	+	ENSG00000246820.2	lincRNA	-	-	-	-
RP11-37B2.1	chr8	89609409	89757727	-	ENSG00000251136.8	lincRNA	-	-	-	-
RP11-37L2.1	chr13	33610967	33611522	+	ENSG00000234535.1	lincRNA	-	-	-	-
RP11-380B4.3	chr13	32782874	32788178	+	ENSG00000277151.1	lincRNA	-	-	-	-
RP11-380G5.2	chr10	87878692	87880427	+	ENSG00000224745.1	sense_intronic	-	-	-	-
RP11-380I10.4	chr8	28250063	28339255	-	ENSG00000253690.1	antisense	-	-	-	-
RP11-380J14.1	chr1	17189783	17197617	+	ENSG00000204362.6	lincRNA	-	-	-	-
RP11-380L11.4	chr12	123925461	123926083	-	ENSG00000270028.1	antisense	-	-	-	-
RP11-380O24.1	chr3	9292588	9363303	-	ENSG00000254485.5	antisense	-	-	-	-
RP11-382A20.2	chr15	83113617	83114566	-	ENSG00000260579.1	antisense	-	-	-	-
RP11-382A20.3	chr15	83112738	83208018	-	ENSG00000166503.8	protein_coding	-	-	-	-
RP11-382A20.4	chr15	83179182	83439445	+	ENSG00000259986.1	antisense	-	-	-	-
RP11-382A20.5	chr15	82925884	83103443	+	ENSG00000259805.1	antisense	-	-	-	-
RP11-382A20.6	chr15	83022571	83090782	+	ENSG00000260351.1	antisense	-	-	-	-
RP11-382D12.2	chr1	184385753	184386704	-	ENSG00000271387.1	lincRNA	-	-	-	-
RP11-382D8.3	chr1	235336806	235337087	+	ENSG00000227962.1	processed_pseudogene	-	-	-	-
RP11-382D8.5	chr1	235361153	235362540	+	ENSG00000230026.2	processed_pseudogene	-	-	-	-
RP11-382H24.2	chr9	13021694	13022892	-	ENSG00000234586.2	processed_pseudogene	-	-	-	-
RP11-382J24.2	chr8	22492631	22493044	+	ENSG00000254272.1	processed_pseudogene	-	-	-	-
RP11-382M14.1	chr11	107176286	107177530	+	ENSG00000255353.1	processed_pseudogene	-	-	-	-
RP11-383B4.4	chr10	18531849	18533336	-	ENSG00000225527.1	antisense	-	-	-	-
RP11-383F6.1	chr7	139049456	139050006	-	ENSG00000229677.1	processed_pseudogene	-	-	-	-
RP11-383G10.5	chr1	205233821	205236867	-	ENSG00000225063.1	antisense	-	-	-	-
RP11-383G6.4	chr3	142450102	142452149	+	ENSG00000242479.1	processed_pseudogene	-	-	-	-
RP11-383I23.2	chr3	99802699	99806058	-	ENSG00000273374.1	lincRNA	-	-	-	-
RP11-384C4.2	chr1	212357418	212358353	+	ENSG00000229832.1	sense_intronic	-	-	-	-
RP11-384F7.2	chr3	117672154	117997592	-	ENSG00000239268.2	lincRNA	-	-	-	-
RP11-384G23.1	chr13	53345211	53410880	+	ENSG00000273919.1	lincRNA	-	-	-	-
RP11-384K6.6	chr4	118591773	118633729	+	ENSG00000260404.3	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-384M20.1	chr17	18026072	18026771	-	ENSG00000280198.1	TEC	-	-	-	-
RP11-384O8.1	chr2	222317242	222318653	-	ENSG00000267034.1	lincRNA	-	-	-	-
RP11-384P7.5	chr9	33719690	33722555	+	ENSG00000227301.1	lincRNA	-	-	-	-
RP11-384P7.7	chr9	33697459	33700986	+	ENSG00000260947.1	lincRNA	-	-	-	-
RP11-385D13.3	chr17	15530773	15531089	-	ENSG00000266538.1	lincRNA	-	-	-	-
RP11-385F5.4	chr1	236540094	236550280	-	ENSG00000230325.1	antisense	-	-	-	-
RP11-385F5.5	chr1	236536162	236536704	-	ENSG00000273058.2	antisense	-	-	-	-
RP11-385F7.1	chr6	47477243	47477572	-	ENSG00000270761.1	lincRNA	-	-	-	-
RP11-386D6.2	chr8	86765935	86818558	+	ENSG00000253778.1	lincRNA	-	-	-	-
RP11-386E5.1	chr5	40415137	40431491	+	ENSG00000283286.1	lincRNA	-	-	-	-
RP11-386G11.10	chr12	49127782	49147869	+	ENSG00000258017.1	antisense	-	-	-	-
RP11-386G11.11	chr12	49075039	49075802	+	ENSG00000277672.1	processed_pseudogene	-	-	-	-
RP11-386G11.5	chr12	48998367	49019235	+	ENSG00000257913.2	antisense	-	-	-	-
RP11-386I14.2	chr1	78043383	78044148	-	ENSG00000213561.4	processed_pseudogene	-	-	-	-
RP11-386I14.3	chr1	78091499	78092054	+	ENSG00000213560.4	processed_pseudogene	-	-	-	-
RP11-386I14.4	chr1	78004346	78004554	-	ENSG00000273338.1	antisense	-	-	-	-
RP11-386I23.1	chr1	92930696	92934098	+	ENSG00000229052.2	transcribed_processed_pseudogene	-	-	-	-
RP11-386I8.6	chr12	133030389	133037222	-	ENSG00000246394.7	lincRNA	-	-	-	-
RP11-386M24.4	chr15	92715710	92734195	-	ENSG00000258741.3	transcribed_processed_pseudogene	-	-	-	-
RP11-387A1.5	chr2	176164164	176165716	-	ENSG00000272729.1	antisense	-	-	-	-
RP11-387D10.4	chr15	90650631	90651103	+	ENSG00000278370.1	lincRNA	-	-	-	-
RP11-387H17.4	chr17	39927742	39939601	+	ENSG00000264968.1	lincRNA	-	-	-	-
RP11-387H17.6	chr17	40012226	40014705	-	ENSG00000265799.1	lincRNA	-	-	-	-
RP11-388C12.5	chr17	82729164	82734143	-	ENSG00000263321.1	lincRNA	-	-	-	-
RP11-388C12.8	chr17	82745068	82745709	+	ENSG00000262410.1	sense_intronic	-	-	-	-
RP11-388M20.6	chr16	31182511	31183285	-	ENSG00000260304.1	antisense	-	-	-	-
RP11-388P9.2	chr10	60050668	60060743	+	ENSG00000232682.2	antisense	-	-	-	-
RP11-389C8.2	chr5	72439903	72442387	-	ENSG00000261269.1	sense_overlapping	-	-	-	-
RP11-389J22.1	chr18	65865262	65866397	+	ENSG00000263720.1	sense_intronic	-	-	-	-
RP11-38G5.4	chr15	79843547	79844304	-	ENSG00000261229.6	lincRNA	-	-	-	-
RP11-38M8.1	chr7	134416290	134432453	-	ENSG00000273297.1	lincRNA	-	-	-	-
RP11-390B4.3	chr10	17695709	17700232	-	ENSG00000229190.1	antisense	-	-	-	-
RP11-390E23.6	chr7	123749068	123751166	+	ENSG00000272686.1	antisense	-	-	-	-
RP11-390F4.2	chr9	6675284	6675614	+	ENSG00000232946.1	processed_pseudogene	-	-	-	-
RP11-390F4.6	chr9	6645956	6670635	+	ENSG00000236924.1	lincRNA	-	-	-	-
RP11-390K5.1	chr11	47191181	47191542	-	ENSG00000243802.2	processed_pseudogene	-	-	-	-
RP11-390K5.3	chr11	47123104	47130801	-	ENSG00000255520.1	antisense	-	-	-	-
RP11-390K5.6	chr11	47168281	47169563	-	ENSG00000270060.1	sense_intronic	-	-	-	-
RP11-391H12.8	chr13	113339450	113339958	-	ENSG00000276434.1	sense_intronic	-	-	-	-
RP11-391L3.4	chr16	81463892	81464859	-	ENSG00000279021.1	TEC	-	-	-	-
RP11-391L3.5	chr16	81476023	81476519	-	ENSG00000260229.1	processed_pseudogene	-	-	-	-
RP11-391M7.3	chr10	123776670	123777749	+	ENSG00000231138.1	antisense	-	-	-	-
RP11-392A14.9	chr9	35001342	35002994	-	ENSG00000273597.1	processed_pseudogene	-	-	-	-
RP11-392O1.4	chr17	43544785	43610338	+	ENSG00000267747.1	antisense	-	-	-	-
RP11-392O17.1	chr1	219409523	219459369	-	ENSG00000228536.2	lincRNA	-	-	-	-
RP11-392O17.2	chr1	219270774	219273387	+	ENSG00000277007.1	lincRNA	-	-	-	-
RP11-392P7.6	chr12	12927726	12984645	+	ENSG00000247498.9	antisense	-	-	-	-
RP11-393I2.4	chr6	87151159	87155285	-	ENSG00000272008.1	antisense	-	-	-	-
RP11-394B5.2	chr15	51064609	51069586	-	ENSG00000259204.1	sense_intronic	-	-	-	-
RP11-394I13.2	chr2	173968351	173969418	+	ENSG00000271151.1	lincRNA	-	-	-	-
RP11-394I13.3	chr2	174011856	174012975	-	ENSG00000273258.1	lincRNA	-	-	-	-
RP11-394O4.3	chr5	149372174	149375116	+	ENSG00000253865.1	antisense	-	-	-	-
RP11-395B7.2	chr7	100963828	100968124	-	ENSG00000274993.1	antisense	-	-	-	-
RP11-395C3.1	chr5	126628019	126628319	-	ENSG00000230929.5	processed_pseudogene	-	-	-	-
RP11-395I14.2	chr8	25425521	25426580	-	ENSG00000253476.1	lincRNA	-	-	-	-
RP11-395I6.3	chr4	40166675	40167831	+	ENSG00000260296.1	sense_overlapping	-	-	-	-
RP11-395N3.1	chr2	226804036	226805061	+	ENSG00000261379.1	sense_intronic	-	-	-	-
RP11-395N3.2	chr2	226800146	226811029	+	ENSG00000272622.1	lincRNA	-	-	-	-
RP11-395P16.1	chr3	47663626	47663934	+	ENSG00000235695.1	processed_pseudogene	-	-	-	-
RP11-396B14.2	chr16	11196177	11224969	+	ENSG00000263033.2	lincRNA	-	-	-	-
RP11-396F22.1	chr12	38906451	38909592	+	ENSG00000257718.1	antisense	-	-	-	-
RP11-396N11.1	chr18	60294151	60301118	+	ENSG00000267401.1	lincRNA	-	-	-	-
RP11-397E7.4	chr4	86913266	86914817	-	ENSG00000251411.1	processed_pseudogene	-	-	-	-
RP11-397G17.1	chr6	50093616	50181007	+	ENSG00000226733.2	protein_coding	-	-	-	-
RP11-397O4.1	chr10	11030334	11030868	-	ENSG00000229206.3	lincRNA	-	-	-	-
RP11-397P13.7	chr1	203835585	203835912	-	ENSG00000223505.2	processed_pseudogene	-	-	-	-
RP11-398A8.5	chr3	72080564	72084641	-	ENSG00000276471.1	lincRNA	-	-	-	-
RP11-398J13.1	chr12	70321542	70324274	-	ENSG00000279530.2	TEC	-	-	-	-
RP11-399B17.1	chr2	112188364	112190635	+	ENSG00000278962.1	TEC	-	-	-	-
RP11-399C16.3	chr10	21865335	21865921	-	ENSG00000279623.1	sense_intronic	-	-	-	-
RP11-399E6.1	chr1	41242373	41284861	+	ENSG00000235358.1	lincRNA	-	-	-	-
RP11-399E6.2	chr1	41264550	41264862	-	ENSG00000213987.4	processed_pseudogene	-	-	-	-
RP11-399E6.4	chr1	41375004	41375669	-	ENSG00000229901.1	antisense	-	-	-	-
RP11-399J13.2	chr11	65118310	65119111	+	ENSG00000278952.1	TEC	-	-	-	-
RP11-399K21.10	chr10	75430571	75431588	-	ENSG00000236842.1	antisense	-	-	-	-
RP11-399K21.12	chr10	75450081	75451725	+	ENSG00000279814.1	TEC	-	-	-	-
RP11-399O19.9	chr10	89015836	89017059	+	ENSG00000261438.1	sense_overlapping	-	-	-	-
RP11-39H3.2	chr5	180078357	180081691	-	ENSG00000278965.1	TEC	-	-	-	-
RP11-39M21.2	chr15	61211913	61214231	+	ENSG00000259575.1	antisense	-	-	-	-
RP11-3B7.1	chr3	49260085	49261316	+	ENSG00000225399.4	lincRNA	-	-	-	-
RP11-3B7.7	chr3	49252129	49252264	-	ENSG00000270538.1	processed_pseudogene	-	-	-	-
RP11-3J10.7	chr9	37836044	37836394	+	ENSG00000232454.2	processed_pseudogene	-	-	-	-
RP11-3K24.1	chr17	60245288	60245647	-	ENSG00000241157.1	processed_pseudogene	-	-	-	-
RP11-3K24.2	chr17	60315834	60316215	+	ENSG00000271626.1	processed_pseudogene	-	-	-	-
RP11-3N13.2	chr8	74891151	74896302	-	ENSG00000254043.1	lincRNA	-	-	-	-
RP11-3P22.2	chr7	69224696	69430923	-	ENSG00000225718.1	lincRNA	-	-	-	-
RP11-400F19.12	chr17	42598643	42599177	+	ENSG00000280183.1	TEC	-	-	-	-
RP11-400F19.18	chr17	42509784	42511519	+	ENSG00000267632.1	sense_intronic	-	-	-	-
RP11-400F19.6	chr17	42552436	42554748	-	ENSG00000266962.2	antisense	-	-	-	-
RP11-400F19.8	chr17	42536510	42562062	+	ENSG00000266929.1	processed_transcript	-	-	-	-
RP11-400L8.2	chr2	9505445	9512412	+	ENSG00000239300.5	antisense	-	-	-	-
RP11-400N9.1	chr2	233351132	233353416	-	ENSG00000259793.1	antisense	-	-	-	-
RP11-401L13.4	chr7	103141349	103141939	-	ENSG00000224415.1	processed_pseudogene	-	-	-	-
RP11-401P9.5	chr16	50666211	50671639	+	ENSG00000260249.2	antisense	-	-	-	-
RP11-402G3.5	chr9	114656304	114662374	-	ENSG00000230054.2	protein_coding	-	-	-	-
RP11-402J6.1	chr4	112515385	112546881	+	ENSG00000249509.1	antisense	-	-	-	-
RP11-402L1.11	chr10	43665668	43667005	+	ENSG00000228426.1	lincRNA	-	-	-	-
RP11-403A21.1	chr18	23957754	23982556	-	ENSG00000265752.2	lincRNA	-	-	-	-
RP11-403A3.2	chr13	110031101	110031567	-	ENSG00000276269.1	lincRNA	-	-	-	-
RP11-403F21.4	chr9	38433696	38543880	+	ENSG00000283162.1	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-403I13.4	chr1	143745249	143757452	+	ENSG00000223779.5	unprocessed_pseudogene	-	-	-	-
RP11-403I13.5	chr1	143736066	143739506	+	ENSG00000232721.2	lincRNA	-	-	-	-
RP11-404G16.2	chr3	133760300	133762363	+	ENSG00000244062.1	processed_pseudogene	-	-	-	-
RP11-404O13.4	chr1	158195633	158196131	-	ENSG00000229914.1	processed_pseudogene	-	-	-	-
RP11-405O10.2	chr6	7183083	7185287	+	ENSG00000225092.2	sense_intronic	-	-	-	-
RP11-406O16.1	chr6	68226972	68329899	-	ENSG00000226497.1	lincRNA	-	-	-	-
RP11-407G23.4	chr16	57247350	57248492	+	ENSG00000260038.1	sense_intronic	-	-	-	-
RP11-407G23.5	chr16	57142652	57144936	+	ENSG00000279803.1	TEC	-	-	-	-
RP11-407N8.6	chr12	50934942	50935464	-	ENSG00000274156.1	lincRNA	-	-	-	-
RP11-408A13.3	chr9	14586766	14587326	-	ENSG00000273399.2	lincRNA	-	-	-	-
RP11-408A13.4	chr9	14588797	14590065	-	ENSG00000272871.1	lincRNA	-	-	-	-
RP11-408E5.4	chr13	19185225	19187349	+	ENSG00000121388.5	unprocessed_pseudogene	-	-	-	-
RP11-40A7.2	chr9	131545514	131558620	+	ENSG00000283526.1	protein_coding	-	-	-	-
RP11-410L14.2	chr8	98996763	99013044	-	ENSG00000253948.1	lincRNA	-	-	-	-
RP11-410N8.1	chr20	32581963	32593900	+	ENSG00000228156.1	antisense	-	-	-	-
RP11-410N8.4	chr20	32564992	32608893	+	ENSG00000204393.7	lincRNA	-	-	-	-
RP11-412D9.4	chr12	106954029	106955497	-	ENSG00000260329.1	antisense	-	-	-	-
RP11-413B19.2	chr12	41409467	41473510	-	ENSG00000257228.5	antisense	-	-	-	-
RP11-415D17.3	chr6	75357214	75399300	+	ENSG00000237174.7	antisense	-	-	-	-
RP11-415F23.2	chr3	16314439	16314987	+	ENSG00000271964.1	antisense	-	-	-	-
RP11-415F23.3	chr3	16339308	16339871	+	ENSG00000272498.1	antisense	-	-	-	-
RP11-415J8.3	chr1	33307348	33349245	+	ENSG00000225313.5	antisense	-	-	-	-
RP11-415J8.5	chr1	33350352	33363245	+	ENSG00000233246.1	antisense	-	-	-	-
RP11-416A14.1	chr1	39206512	39206957	+	ENSG00000270040.1	sense_intronic	-	-	-	-
RP11-416L21.1	chr2	60711484	60711920	+	ENSG00000213495.3	processed_pseudogene	-	-	-	-
RP11-416N2.4	chr10	103608619	103610050	+	ENSG00000273108.1	antisense	-	-	-	-
RP11-417E7.2	chr6	169175304	169182740	-	ENSG00000261039.2	lincRNA	-	-	-	-
RP11-417F21.1	chr2	46568256	46580238	-	ENSG00000250116.2	antisense	-	-	-	-
RP11-417F21.2	chr2	46499731	46501278	+	ENSG00000253515.1	antisense	-	-	-	-
RP11-417N10.3	chr16	71833787	71835932	+	ENSG00000262140.1	unprocessed_pseudogene	-	-	-	-
RP11-418H16.1	chr2	65623272	65628424	+	ENSG00000281920.1	lincRNA	-	-	-	-
RP11-418I22.2	chr16	9466655	9517564	+	ENSG00000260071.1	lincRNA	-	-	-	-
RP11-418J17.1	chr1	119140396	119275973	+	ENSG00000231365.5	antisense	-	-	-	-
RP11-418J17.3	chr1	119260265	119327303	-	ENSG00000227712.1	lincRNA	-	-	-	-
RP11-419C23.1	chr8	37067441	37069418	-	ENSG00000254038.1	lincRNA	-	-	-	-
RP11-419I17.1	chr8	12537079	12665588	-	ENSG00000283674.1	lincRNA	-	-	-	-
RP11-419I17.2	chr8	12476462	12477122	+	ENSG00000270154.1	lincRNA	-	-	-	-
RP11-419L20.2	chr8	109470131	109471117	+	ENSG00000254185.1	processed_pseudogene	-	-	-	-
RP11-420A23.1	chr4	128292751	128519394	+	ENSG00000251432.6	lincRNA	-	-	-	-
RP11-420A6.2	chr17	5364315	5371626	-	ENSG00000263220.1	antisense	-	-	-	-
RP11-420K8.1	chr1	39249838	39257649	-	ENSG00000226438.1	antisense	-	-	-	-
RP11-421F16.3	chr12	26971586	26979582	+	ENSG00000247903.1	antisense	-	-	-	-
RP11-421L21.2	chr1	100995473	100996260	+	ENSG00000235795.1	antisense	-	-	-	-
RP11-421L21.3	chr1	101025878	101087268	+	ENSG00000233184.6	antisense	-	-	-	-
RP11-421N8.1	chr18	68277802	68278243	-	ENSG00000260747.1	processed_pseudogene	-	-	-	-
RP11-422J15.1	chr4	129771659	129955368	+	ENSG00000249618.5	lincRNA	-	-	-	-
RP11-422P24.10	chr1	153966516	153966930	+	ENSG00000273026.1	antisense	-	-	-	-
RP11-422P24.11	chr1	153977743	153979160	+	ENSG00000272654.1	lincRNA	-	-	-	-
RP11-423C15.3	chr9	125743754	125746552	-	ENSG00000229582.3	processed_transcript	-	-	-	-
RP11-423F24.3	chr1	231021611	231022183	+	ENSG00000227934.1	processed_pseudogene	-	-	-	-
RP11-423G4.10	chr12	108833721	108834384	-	ENSG00000274598.1	sense_intronic	-	-	-	-
RP11-423P10.2	chr2	37208875	37212677	+	ENSG00000272054.1	sense_intronic	-	-	-	-
RP11-424I19.2	chr15	101168530	101170821	+	ENSG00000259182.5	lincRNA	-	-	-	-
RP11-424M21.1	chr4	151799500	151801348	+	ENSG00000249184.1	lincRNA	-	-	-	-
RP11-425D10.10	chr6	109382795	109383666	+	ENSG00000260273.1	antisense	-	-	-	-
RP11-425D17.1	chr12	28185625	28186190	-	ENSG00000278733.1	antisense	-	-	-	-
RP11-425D17.2	chr12	28236227	28236828	+	ENSG00000273989.1	sense_intronic	-	-	-	-
RP11-425L10.1	chr11	46428653	46429150	-	ENSG00000244313.3	processed_pseudogene	-	-	-	-
RP11-426J5.2	chr18	48673575	48688419	-	ENSG00000267762.1	antisense	-	-	-	-
RP11-426L16.3	chr1	112693688	112696621	-	ENSG00000225075.1	antisense	-	-	-	-
RP11-427L15.2	chr10	118692361	118693535	-	ENSG00000277687.1	sense_intronic	-	-	-	-
RP11-427P5.3	chr3	46918807	46918935	-	ENSG00000273682.1	processed_pseudogene	-	-	-	-
RP11-428C19.5	chr11	19299883	19308358	+	ENSG00000255160.5	lincRNA	-	-	-	-
RP11-428J1.4	chr6	5031756	5054423	-	ENSG00000271978.1	lincRNA	-	-	-	-
RP11-428L9.1	chr10	8897989	8914596	+	ENSG00000234752.1	lincRNA	-	-	-	-
RP11-428P16.2	chr10	77730766	77734769	+	ENSG00000213514.2	processed_pseudogene	-	-	-	-
RP11-429B11.2	chr4	82284971	82340013	+	ENSG00000284516.1	transcribed_unitary_pseudogene	-	-	-	-
RP11-429B14.4	chr15	89508961	89510416	+	ENSG00000261478.1	lincRNA	-	-	-	-
RP11-429D19.1	chr15	59266720	59271162	-	ENSG00000259771.1	sense_intronic	-	-	-	-
RP11-429J17.2	chr8	143696154	143698413	+	ENSG00000181097.5	antisense	-	-	-	-
RP11-429J17.5	chr8	143718246	143718891	-	ENSG00000254548.1	antisense	-	-	-	-
RP11-429J17.7	chr8	143758153	143771822	-	ENSG00000254973.1	lincRNA	-	-	-	-
RP11-429P3.8	chr16	50072862	50074986	+	ENSG00000279356.1	TEC	-	-	-	-
RP11-42I10.1	chr16	48623436	48744921	+	ENSG00000260086.2	lincRNA	-	-	-	-
RP11-430C7.2	chr1	204528845	204529692	-	ENSG00000236779.1	processed_pseudogene	-	-	-	-
RP11-430C7.4	chr1	204603035	204616565	+	ENSG00000240710.1	antisense	-	-	-	-
RP11-430C7.5	chr1	204626775	204629712	+	ENSG00000240219.1	lincRNA	-	-	-	-
RP11-430H10.1	chr11	45355371	45366121	+	ENSG00000254427.1	lincRNA	-	-	-	-
RP11-430H12.2	chr1	65576129	65578380	-	ENSG00000224570.1	processed_pseudogene	-	-	-	-
RP11-430K21.2	chr9	111802980	111803435	+	ENSG00000224067.2	processed_pseudogene	-	-	-	-
RP11-430L16.1	chr3	188107096	188147020	+	ENSG00000234238.1	lincRNA	-	-	-	-
RP11-431K24.1	chr1	8026738	8122702	+	ENSG00000238290.1	lincRNA	-	-	-	-
RP11-431K24.2	chr1	8189824	8192770	+	ENSG00000229305.1	processed_pseudogene	-	-	-	-
RP11-432F4.2	chr9	112362714	112363116	+	ENSG00000213529.3	processed_pseudogene	-	-	-	-
RP11-432I13.6	chr10	45187292	45198323	-	ENSG00000278531.1	unprocessed_pseudogene	-	-	-	-
RP11-432I5.2	chr16	71623708	71626816	-	ENSG00000260593.1	antisense	-	-	-	-
RP11-432I5.4	chr16	71726975	71727992	+	ENSG00000260612.1	lincRNA	-	-	-	-
RP11-432I5.6	chr16	71655027	71664212	+	ENSG00000260185.1	antisense	-	-	-	-
RP11-432I5.8	chr16	71723180	71724230	+	ENSG00000261513.1	antisense	-	-	-	-
RP11-433M22.2	chr17	48460370	48466040	+	ENSG00000264451.1	lincRNA	-	-	-	-
RP11-434C1.2	chr12	11541395	11555838	-	ENSG00000256237.1	lincRNA	-	-	-	-
RP11-434D12.1	chr3	14135217	14148252	+	ENSG00000268279.4	protein_coding	-	-	-	-
RP11-434E6.4	chr16	54290965	54292422	+	ENSG00000277559.1	lincRNA	-	-	-	-
RP11-434H14.1	chr2	143676165	143741294	-	ENSG00000257277.1	antisense	-	-	-	-
RP11-434H6.6	chr3	129123439	129124003	+	ENSG00000273174.1	antisense	-	-	-	-
RP11-434P11.2	chr2	73750256	73750786	-	ENSG00000273245.1	lincRNA	-	-	-	-
RP11-435I10.5	chr16	28364700	28365333	+	ENSG00000271623.1	processed_pseudogene	-	-	-	-
RP11-435J9.2	chr15	62387327	62388875	-	ENSG00000274340.1	lincRNA	-	-	-	-
RP11-435O5.4	chr9	95514045	95514520	+	ENSG00000271659.1	antisense	-	-	-	-
RP11-435O5.5	chr9	95506235	95507636	+	ENSG00000271155.1	antisense	-	-	-	-
RP11-435O5.6	chr9	95494924	95495379	+	ENSG00000271314.1	antisense	-	-	-	-
RP11-435O5.7	chr9	95406990	95407662	-	ENSG00000271384.1	lincRNA	-	-	-	-
RP11-436D10.3	chr10	62793562	62805887	-	ENSG00000238280.1	antisense	-	-	-	-
RP11-436D23.1	chr6	97283303	98399872	+	ENSG00000271860.6	lincRNA	-	-	-	-
RP11-438D14.2	chr12	33404872	33405896	-	ENSG00000259937.2	sense_intronic	-	-	-	-
RP11-438D14.3	chr12	33432311	33432853	-	ENSG00000273853.1	sense_intronic	-	-	-	-
RP11-438D8.2	chr3	141267353	141367137	-	ENSG00000249417.1	antisense	-	-	-	-
RP11-438F14.3	chr1	248548756	248563839	+	ENSG00000224521.1	antisense	-	-	-	-
RP11-438L19.1	chr2	183214319	183215400	+	ENSG00000272800.1	lincRNA	-	-	-	-
RP11-439A17.10	chr1	121087528	121116676	-	ENSG00000234998.1	antisense	-	-	-	-
RP11-439A17.4	chr1	121118126	121146826	+	ENSG00000227193.2	lincRNA	-	-	-	-
RP11-439A17.9	chr1	121090289	121097655	-	ENSG00000233029.3	antisense	-	-	-	-
RP11-43F13.3	chr5	987180	997308	-	ENSG00000215246.5	antisense	-	-	-	-
RP11-43N5.1	chr12	67709047	67729475	-	ENSG00000255970.1	lincRNA	-	-	-	-
RP11-440D17.3	chr2	95525109	95526702	-	ENSG00000272913.1	lincRNA	-	-	-	-
RP11-440D17.4	chr2	95537969	95538469	+	ENSG00000273305.1	lincRNA	-	-	-	-
RP11-440G5.2	chr9	91426238	91427144	+	ENSG00000233081.1	lincRNA	-	-	-	-
RP11-440G9.1	chr6	142526455	142637889	-	ENSG00000236366.2	lincRNA	-	-	-	-
RP11-440L14.1	chr4	762387	781849	-	ENSG00000249592.5	antisense	-	-	-	-
RP11-440L14.3	chr4	836512	837224	-	ENSG00000260262.1	lincRNA	-	-	-	-
RP11-440L14.4	chr4	757022	757740	-	ENSG00000272588.1	antisense	-	-	-	-
RP11-441F2.4	chr16	56306845	56308335	+	ENSG00000279764.1	TEC	-	-	-	-
RP11-441F2.5	chr16	56351886	56353524	-	ENSG00000272372.1	antisense	-	-	-	-
RP11-441O15.3	chr10	99431191	99438117	+	ENSG00000224934.2	lincRNA	-	-	-	-
RP11-442O1.3	chr16	85142696	85146001	-	ENSG00000275088.1	lincRNA	-	-	-	-
RP11-443B20.1	chr2	24825610	24826717	+	ENSG00000271936.1	antisense	-	-	-	-
RP11-443B7.1	chr1	234957342	234970062	-	ENSG00000238005.2	lincRNA	-	-	-	-
RP11-443B7.3	chr1	234979647	234980804	-	ENSG00000258082.1	lincRNA	-	-	-	-
RP11-443G13.2	chr17	32280387	32280953	-	ENSG00000263674.1	antisense	-	-	-	-
RP11-444D13.1	chr1	183754418	183754937	-	ENSG00000227554.1	antisense	-	-	-	-
RP11-445F6.2	chr6	139271362	139287307	+	ENSG00000226571.1	antisense	-	-	-	-
RP11-445J14.1	chr3	134510531	134511413	-	ENSG00000249691.1	processed_pseudogene	-	-	-	-
RP11-445N18.5	chr10	45164228	45181427	-	ENSG00000227683.1	lincRNA	-	-	-	-
RP11-445P17.8	chr10	5266033	5271236	-	ENSG00000224034.1	lincRNA	-	-	-	-
RP11-446E24.3	chr1	54137746	54142980	+	ENSG00000280425.2	antisense	-	-	-	-
RP11-446E9.1	chr8	56050038	56051207	-	ENSG00000236814.1	processed_pseudogene	-	-	-	-
RP11-446N19.1	chr12	46537502	46652550	+	ENSG00000272369.1	lincRNA	-	-	-	-
RP11-448A19.1	chr7	129604548	129611630	-	ENSG00000273329.1	lincRNA	-	-	-	-
RP11-448G15.1	chr4	10006482	10009725	+	ENSG00000250413.1	antisense	-	-	-	-
RP11-448G15.3	chr4	10068089	10073019	-	ENSG00000261490.1	sense_overlapping	-	-	-	-
RP11-448G4.2	chr1	197735636	197736107	+	ENSG00000235582.2	processed_pseudogene	-	-	-	-
RP11-449J10.1	chr16	77433382	77444336	+	ENSG00000260701.1	antisense	-	-	-	-
RP11-449P1.1	chr12	22742582	22743091	+	ENSG00000256923.1	lincRNA	-	-	-	-
RP11-449P15.1	chr7	1055360	1059261	-	ENSG00000257607.1	antisense	-	-	-	-
RP11-44D5.1	chr3	15732252	15733470	+	ENSG00000270409.1	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-44F14.2	chr16	53373493	53384745	+	ENSG00000261804.1	lincRNA	-	-	-	-
RP11-44F14.4	chr16	53362019	53363678	-	ENSG00000259962.1	unprocessed_pseudogene	-	-	-	-
RP11-44F14.6	chr16	53487607	53489943	-	ENSG00000279722.1	TEC	-	-	-	-
RP11-44F14.7	chr16	53478957	53481550	-	ENSG00000279344.1	TEC	-	-	-	-
RP11-44F14.8	chr16	53386944	53389085	+	ENSG00000262714.1	lincRNA	-	-	-	-
RP11-44I10.3	chr16	48559661	48587403	+	ENSG00000261267.1	antisense	-	-	-	-
RP11-44N21.1	chr14	105093609	105099004	+	ENSG00000257556.1	lincRNA	-	-	-	-
RP11-451F14.1	chr2	174171891	174172725	+	ENSG00000270799.1	processed_pseudogene	-	-	-	-
RP11-452C8.1	chr4	79663761	79696837	+	ENSG00000248408.1	lincRNA	-	-	-	-
RP11-452F19.3	chr1	222815022	222837384	+	ENSG00000228106.5	lincRNA	-	-	-	-
RP11-452G18.2	chr11	17228279	17229151	+	ENSG00000197149.5	processed_pseudogene	-	-	-	-
RP11-452H21.1	chr11	78324758	78444049	+	ENSG00000254420.1	antisense	-	-	-	-
RP11-452H21.4	chr11	78423982	78429836	-	ENSG00000251323.2	lincRNA	-	-	-	-
RP11-452I5.2	chr17	74747319	74748912	-	ENSG00000266036.1	antisense	-	-	-	-
RP11-452K12.4	chr10	97334564	97343203	+	ENSG00000225850.3	antisense	-	-	-	-
RP11-452L6.1	chr16	31449535	31453493	-	ENSG00000261474.1	lincRNA	-	-	-	-
RP11-452L6.5	chr16	31456711	31459736	-	ENSG00000260267.1	antisense	-	-	-	-
RP11-454E5.4	chr12	51201684	51202581	-	ENSG00000278126.1	sense_intronic	-	-	-	-
RP11-454F8.2	chr16	53298224	53299792	+	ENSG00000261056.2	transcribed_processed_pseudogene	-	-	-	-
RP11-454L9.2	chr14	55394940	55395233	-	ENSG00000259318.1	processed_pseudogene	-	-	-	-
RP11-455F15.1	chr2	687799	688348	+	ENSG00000280360.1	TEC	-	-	-	-
RP11-455F5.3	chr16	30096430	30104116	+	ENSG00000250616.2	antisense	-	-	-	-
RP11-455F5.4	chr16	30107675	30110541	+	ENSG00000261367.1	antisense	-	-	-	-
RP11-455F5.6	chr16	30110895	30111955	+	ENSG00000275371.1	antisense	-	-	-	-
RP11-455G16.1	chr4	119192773	119212644	-	ENSG00000178636.8	transcribed_processed_pseudogene	-	-	-	-
RP11-455O6.8	chr17	81251194	81251803	+	ENSG00000276101.1	antisense	-	-	-	-
RP11-456H18.1	chr6	11990343	11992012	-	ENSG00000225102.1	antisense	-	-	-	-
RP11-456H18.2	chr6	12007670	12008856	+	ENSG00000229896.2	lincRNA	-	-	-	-
RP11-456N14.4	chr3	58174478	58178374	-	ENSG00000283148.1	lincRNA	-	-	-	-
RP11-456N14.6	chr3	58180009	58187495	+	ENSG00000283511.1	transcribed_unitary_pseudogene	-	-	-	-
RP11-457M11.5	chr6	26686241	26687964	+	ENSG00000261584.1	lincRNA	-	-	-	-
RP11-457M11.7	chr6	26602733	26606661	+	ENSG00000275846.1	lincRNA	-	-	-	-
RP11-458F8.1	chr7	66848496	66858136	+	ENSG00000232546.1	unprocessed_pseudogene	-	-	-	-
RP11-458F8.3	chr7	66914581	66914943	+	ENSG00000179131.7	processed_pseudogene	-	-	-	-
RP11-458F8.4	chr7	66902857	66906297	+	ENSG00000273142.1	lincRNA	-	-	-	-
RP11-458I7.1	chr1	150053864	150055034	+	ENSG00000223945.2	processed_pseudogene	-	-	-	-
RP11-458J1.1	chr17	40648300	40649718	+	ENSG00000278834.1	antisense	-	-	-	-
RP11-459E5.1	chr8	22690150	22798616	+	ENSG00000253125.1	processed_transcript	-	-	-	-
RP11-459F6.1	chr16	58197112	58217805	+	ENSG00000260867.1	antisense	-	-	-	-
RP11-459I19.1	chr2	218818690	218819144	+	ENSG00000272555.1	lincRNA	-	-	-	-
RP11-45A16.4	chr9	116288618	116318689	-	ENSG00000244757.1	antisense	-	-	-	-
RP11-45A17.2	chr10	131971202	131971533	+	ENSG00000277959.1	antisense	-	-	-	-
RP11-45A17.3	chr10	131996738	131999846	+	ENSG00000279982.1	TEC	-	-	-	-
RP11-45A17.4	chr10	131980240	131981337	+	ENSG00000273521.1	antisense	-	-	-	-
RP11-45M22.5	chr17	17235433	17236118	-	ENSG00000266498.1	lincRNA	-	-	-	-
RP11-45P15.4	chr14	103331674	103332367	-	ENSG00000259775.1	antisense	-	-	-	-
RP11-460M2.1	chr2	48809340	49419013	+	ENSG00000282890.1	lincRNA	-	-	-	-
RP11-461A8.4	chr16	3650636	3651703	-	ENSG00000263235.1	sense_overlapping	-	-	-	-
RP11-461A8.5	chr16	3686998	3687380	+	ENSG00000276754.1	antisense	-	-	-	-
RP11-461O7.1	chr16	56092987	56191094	-	ENSG00000246379.6	lincRNA	-	-	-	-
RP11-461O7.2	chr16	56108980	56109970	+	ENSG00000279523.1	TEC	-	-	-	-
RP11-462G12.1	chr16	3947609	3950444	-	ENSG00000262185.1	sense_overlapping	-	-	-	-
RP11-462G12.2	chr16	3931217	3946305	-	ENSG00000262888.1	sense_overlapping	-	-	-	-
RP11-462H3.2	chr20	30545601	30551470	+	ENSG00000283443.1	unprocessed_pseudogene	-	-	-	-
RP11-463C8.7	chr14	77140683	77142996	+	ENSG00000269883.1	antisense	-	-	-	-
RP11-463O12.5	chr12	122870059	122888720	-	ENSG00000280138.1	TEC	-	-	-	-
RP11-463O9.1	chr16	86525457	86526252	+	ENSG00000243697.1	processed_pseudogene	-	-	-	-
RP11-463O9.9	chr16	86520383	86523897	-	ENSG00000270020.1	lincRNA	-	-	-	-
RP11-464D20.6	chr17	62549726	62552121	+	ENSG00000264546.1	sense_intronic	-	-	-	-
RP11-464F9.20	chr10	73625996	73626790	+	ENSG00000268584.1	antisense	-	-	-	-
RP11-465L10.10	chr20	46013500	46022073	-	ENSG00000204044.6	antisense	-	-	-	-
RP11-466A19.1	chr17	32495536	32499333	+	ENSG00000266718.1	antisense	-	-	-	-
RP11-466A19.7	chr17	32518322	32518934	-	ENSG00000279781.1	TEC	-	-	-	-
RP11-466F5.6	chr1	165698750	165709968	+	ENSG00000215838.4	transcribed_processed_pseudogene	-	-	-	-
RP11-467C18.1	chr1	59289303	59289640	-	ENSG00000270457.1	lincRNA	-	-	-	-
RP11-467D18.2	chr1	29223933	29224816	+	ENSG00000237934.1	antisense	-	-	-	-
RP11-467H10.2	chr7	77043721	77198626	+	ENSG00000259628.1	processed_transcript	-	-	-	-
RP11-467J12.4	chr16	53035690	53052873	-	ENSG00000277639.2	protein_coding	-	-	-	-
RP11-467K18.2	chr11	9004162	9065154	+	ENSG00000253973.2	antisense	-	-	-	-
RP11-467P9.1	chr2	71067519	71068125	-	ENSG00000272735.1	lincRNA	-	-	-	-
RP11-468E2.5	chr14	24139445	24140444	+	ENSG00000259321.1	lincRNA	-	-	-	-
RP11-468H14.2	chr8	17131181	17149789	+	ENSG00000249258.2	lincRNA	-	-	-	-
RP11-469H8.6	chr12	49951512	49962924	-	ENSG00000257588.1	antisense	-	-	-	-
RP11-469N6.1	chr11	134735596	134763810	+	ENSG00000251226.1	lincRNA	-	-	-	-
RP11-469N6.2	chr11	134714542	134715922	+	ENSG00000255344.1	lincRNA	-	-	-	-
RP11-46A10.5	chr1	180944042	180976482	-	ENSG00000243155.1	antisense	-	-	-	-
RP11-46A10.8	chr1	180970837	180971247	+	ENSG00000270711.1	processed_pseudogene	-	-	-	-
RP11-46C24.6	chr16	89226807	89228692	-	ENSG00000260659.1	antisense	-	-	-	-
RP11-46C24.7	chr16	89215211	89217653	-	ENSG00000259877.2	antisense	-	-	-	-
RP11-46H11.12	chr12	132887842	132888583	+	ENSG00000236617.2	antisense	-	-	-	-
RP11-46H11.3	chr12	132911470	132914732	+	ENSG00000250790.4	lincRNA	-	-	-	-
RP11-470M1.2	chr13	80041725	80074557	-	ENSG00000284196.1	processed_transcript	-	-	-	-
RP11-472B18.1	chr4	39480255	39481905	+	ENSG00000224097.5	transcribed_processed_pseudogene	-	-	-	-
RP11-472K17.3	chr13	110123208	110125234	+	ENSG00000279965.1	TEC	-	-	-	-
RP11-472M19.2	chr6	56844002	56864078	+	ENSG00000231441.1	antisense	-	-	-	-
RP11-472N13.2	chr10	31604600	31606218	+	ENSG00000223834.2	lincRNA	-	-	-	-
RP11-473C18.3	chr15	43184079	43185141	-	ENSG00000261687.1	antisense	-	-	-	-
RP11-473I1.9	chr16	9104848	9113181	+	ENSG00000263244.2	3prime_overlapping_ncRNA	-	-	-	-
RP11-473L15.3	chr5	44495618	44510282	-	ENSG00000249203.1	lincRNA	-	-	-	-
RP11-473M14.3	chr12	67440998	67442559	-	ENSG00000256172.1	lincRNA	-	-	-	-
RP11-473M20.11	chr16	3106764	3109576	+	ENSG00000263011.1	sense_overlapping	-	-	-	-
RP11-473M20.16	chr16	3156736	3157483	-	ENSG00000261889.1	lincRNA	-	-	-	-
RP11-473M20.5	chr16	3032481	3039133	+	ENSG00000205890.3	antisense	-	-	-	-
RP11-473O4.3	chr8	129939856	129949394	+	ENSG00000253720.1	lincRNA	-	-	-	-
RP11-474C8.7	chr12	48189349	48191207	+	ENSG00000279875.1	TEC	-	-	-	-
RP11-474C8.8	chr12	48152817	48153128	+	ENSG00000274124.1	antisense	-	-	-	-
RP11-474G23.1	chr2	68131238	68261230	-	ENSG00000273398.6	protein_coding	-	-	-	-
RP11-474G23.2	chr2	68179833	68180532	+	ENSG00000273275.1	antisense	-	-	-	-
RP11-474G23.3	chr2	68252870	68253848	+	ENSG00000273064.1	antisense	-	-	-	-
RP11-474I16.8	chr1	161765325	161766227	-	ENSG00000226889.3	antisense	-	-	-	-
RP11-474P2.2	chr12	46371463	46373778	+	ENSG00000258096.1	antisense	-	-	-	-
RP11-474P2.4	chr12	46384233	46386991	-	ENSG00000257496.1	lincRNA	-	-	-	-
RP11-474P2.6	chr12	46388856	46392126	+	ENSG00000275481.1	lincRNA	-	-	-	-
RP11-474P2.7	chr12	46404644	46407166	+	ENSG00000278896.1	TEC	-	-	-	-
RP11-476B13.2	chr9	92676943	92677407	-	ENSG00000213669.2	processed_pseudogene	-	-	-	-
RP11-476C8.2	chr4	87166844	87167734	+	ENSG00000248196.1	processed_pseudogene	-	-	-	-
RP11-476I15.6	chr20	64327418	64327972	-	ENSG00000274727.1	processed_pseudogene	-	-	-	-
RP11-477D19.2	chr6	155253139	155256724	-	ENSG00000235381.1	antisense	-	-	-	-
RP11-477J21.2	chr9	121238117	121240089	-	ENSG00000214651.4	processed_pseudogene	-	-	-	-
RP11-477N3.1	chr2	54082554	54085066	+	ENSG00000272156.1	lincRNA	-	-	-	-
RP11-478C1.8	chr4	2324467	2325082	+	ENSG00000249077.1	processed_pseudogene	-	-	-	-
RP11-478C6.2	chr4	338097	338583	-	ENSG00000248564.1	processed_pseudogene	-	-	-	-
RP11-478J18.2	chr1	213983793	213986419	-	ENSG00000274895.1	antisense	-	-	-	-
RP11-479O9.4	chr7	65647010	65770810	-	ENSG00000272693.3	lincRNA	-	-	-	-
RP11-47A17.2	chr1	200147531	200148279	-	ENSG00000229220.1	processed_pseudogene	-	-	-	-
RP11-47A8.5	chr10	102642792	102644140	-	ENSG00000272933.1	lincRNA	-	-	-	-
RP11-47F1.1	chr5	108894347	108894628	-	ENSG00000250441.1	processed_pseudogene	-	-	-	-
RP11-47J17.3	chr11	12822435	12823667	-	ENSG00000254688.1	antisense	-	-	-	-
RP11-47L3.1	chr17	35313502	35324900	+	ENSG00000267364.1	lincRNA	-	-	-	-
RP11-480A16.1	chr3	195949188	195952695	-	ENSG00000260261.1	lincRNA	-	-	-	-
RP11-480C16.1	chr2	113432600	113436042	+	ENSG00000272563.1	lincRNA	-	-	-	-
RP11-480G3.1	chr4	10143367	10143655	-	ENSG00000250393.1	processed_pseudogene	-	-	-	-
RP11-481A20.10	chr8	12003400	12004082	-	ENSG00000254507.2	transcribed_processed_pseudogene	-	-	-	-
RP11-481A20.4	chr8	11999087	11999468	+	ENSG00000255174.1	processed_pseudogene	-	-	-	-
RP11-481C4.2	chr17	51183191	51186403	-	ENSG00000279089.1	TEC	-	-	-	-
RP11-481F24.3	chr16	55704119	55706422	+	ENSG00000278928.1	TEC	-	-	-	-
RP11-481H12.1	chr10	113482616	113483113	+	ENSG00000230018.1	processed_pseudogene	-	-	-	-
RP11-481J13.1	chr2	55952158	56181652	+	ENSG00000272180.1	lincRNA	-	-	-	-
RP11-481J2.4	chr16	58522970	58523842	+	ENSG00000276259.1	antisense	-	-	-	-
RP11-482D24.2	chr12	106680758	106684700	-	ENSG00000257711.1	antisense	-	-	-	-
RP11-482D24.3	chr12	106714924	106733066	-	ENSG00000257918.1	antisense	-	-	-	-
RP11-482H16.1	chr2	56147630	56386171	+	ENSG00000271894.1	processed_transcript	-	-	-	-
RP11-483C6.1	chr14	26592747	26594517	-	ENSG00000262119.1	sense_intronic	-	-	-	-
RP11-483F11.7	chr10	99651989	99653905	-	ENSG00000229278.1	antisense	-	-	-	-
RP11-483I13.5	chr1	108199926	108201491	+	ENSG00000260879.1	antisense	-	-	-	-
RP11-483I13.6	chr1	108200413	108202743	+	ENSG00000280186.1	TEC	-	-	-	-
RP11-483P21.6	chr16	83929796	83931223	-	ENSG00000260932.1	antisense	-	-	-	-
RP11-484D2.5	chr11	43378882	43385671	-	ENSG00000255340.1	antisense	-	-	-	-
RP11-484L8.1	chr18	48826051	48834770	-	ENSG00000267764.1	antisense	-	-	-	-
RP11-484P15.1	chr15	23912409	23941716	+	ENSG00000261622.1	lincRNA	-	-	-	-
RP11-485G7.5	chr16	11341809	11345211	-	ENSG00000263080.1	antisense	-	-	-	-
RP11-485G7.6	chr16	11348143	11349321	-	ENSG00000262703.1	antisense	-	-	-	-
RP11-485M7.3	chr5	133111055	133114475	-	ENSG00000251616.1	lincRNA	-	-	-	-
RP11-485O10.3	chr15	48810701	48811909	+	ENSG00000259700.3	processed_transcript	-	-	-	-
RP11-486A14.1	chr12	93314809	93315941	+	ENSG00000257512.1	transcribed_processed_pseudogene	-	-	-	-
RP11-486A14.2	chr12	93317135	93377736	-	ENSG00000257252.5	antisense	-	-	-	-
RP11-486B10.4	chr1	41542069	41544310	+	ENSG00000230638.4	processed_pseudogene	-	-	-	-
RP11-486E2.1	chr6	80555841	80557189	-	ENSG00000216352.1	processed_pseudogene	-	-	-	-
RP11-486G15.2	chr1	84076331	84077931	-	ENSG00000271576.1	lincRNA	-	-	-	-
RP11-486I11.2	chr16	11797468	11798275	+	ENSG00000277369.1	lincRNA	-	-	-	-
RP11-486M23.1	chr8	29527312	29530323	+	ENSG00000253632.1	lincRNA	-	-	-	-
RP11-486M23.2	chr8	29548171	29564341	+	ENSG00000253182.1	lincRNA	-	-	-	-
RP11-486O12.2	chr12	123575891	123585115	-	ENSG00000247373.3	lincRNA	-	-	-	-
RP11-488L18.3	chr1	247183813	247185482	-	ENSG00000215795.2	processed_pseudogene	-	-	-	-
RP11-488P3.1	chr1	93752924	93775444	-	ENSG00000230439.2	sense_intronic	-	-	-	-
RP11-489E7.4	chr8	30082758	30083467	+	ENSG00000272256.1	antisense	-	-	-	-
RP11-48B3.4	chr8	80541300	80543104	+	ENSG00000260317.1	lincRNA	-	-	-	-
RP11-48B3.5	chr8	80484561	80485619	-	ENSG00000251867.3	antisense	-	-	-	-
RP11-48G14.1	chr15	56408483	56410186	-	ENSG00000261823.1	lincRNA	-	-	-	-
RP11-490G2.2	chr1	97967005	97968814	-	ENSG00000259946.1	lincRNA	-	-	-	-
RP11-490G8.1	chr12	95467397	95467861	-	ENSG00000241556.1	processed_pseudogene	-	-	-	-
RP11-490H24.5	chr12	104030779	104031543	+	ENSG00000216285.5	processed_pseudogene	-	-	-	-
RP11-490K7.4	chr1	31263245	31263681	-	ENSG00000229447.2	processed_pseudogene	-	-	-	-
RP11-490M8.1	chr2	36354749	36355114	-	ENSG00000260025.1	lincRNA	-	-	-	-
RP11-490N5.3	chr13	30196443	30196881	-	ENSG00000279499.1	TEC	-	-	-	-
RP11-490O6.2	chr16	11741910	11744506	+	ENSG00000262420.3	antisense	-	-	-	-
RP11-491H9.3	chr6	45158870	45159511	+	ENSG00000219384.1	processed_pseudogene	-	-	-	-
RP11-492A10.1	chr5	114488997	114668410	-	ENSG00000246316.7	antisense	-	-	-	-
RP11-492I21.1	chr1	176017277	176018760	+	ENSG00000228686.2	antisense	-	-	-	-
RP11-493E12.1	chr2	61151433	61162105	-	ENSG00000271889.1	lincRNA	-	-	-	-
RP11-493E12.2	chr2	61199979	61200769	+	ENSG00000273302.1	sense_intronic	-	-	-	-
RP11-493E3.1	chr15	89876540	89877285	+	ENSG00000259677.1	processed_pseudogene	-	-	-	-
RP11-494K3.2	chr1	204946608	204947169	+	ENSG00000229657.2	processed_pseudogene	-	-	-	-
RP11-494O16.3	chr22	49845929	49846090	+	ENSG00000229409.1	processed_pseudogene	-	-	-	-
RP11-495K9.5	chr12	131756966	131758047	-	ENSG00000255933.1	lincRNA	-	-	-	-
RP11-495O11.1	chr11	45651529	45652691	+	ENSG00000255091.1	antisense	-	-	-	-
RP11-496I9.1	chr11	557595	560107	+	ENSG00000254815.5	antisense	-	-	-	-
RP11-496N12.6	chr1	225447243	225465343	-	ENSG00000234476.1	sense_intronic	-	-	-	-
RP11-497E19.1	chr14	85524432	85529988	-	ENSG00000205562.2	lincRNA	-	-	-	-
RP11-497G19.1	chr12	116661582	116698065	+	ENSG00000257883.1	lincRNA	-	-	-	-
RP11-497G19.2	chr12	116698336	116703130	+	ENSG00000257654.1	lincRNA	-	-	-	-
RP11-497G19.3	chr12	116599270	116603585	+	ENSG00000258249.1	lincRNA	-	-	-	-
RP11-498C9.12	chr17	81922899	81924511	+	ENSG00000264769.1	antisense	-	-	-	-
RP11-498C9.13	chr17	81932398	81933058	+	ENSG00000263585.1	antisense	-	-	-	-
RP11-498C9.2	chr17	81843165	81843958	+	ENSG00000262831.1	antisense	-	-	-	-
RP11-498C9.3	chr17	81867721	81868552	+	ENSG00000262413.1	antisense	-	-	-	-
RP11-498D10.8	chr16	72004239	72004803	-	ENSG00000263311.1	unprocessed_pseudogene	-	-	-	-
RP11-498J9.2	chr10	119003536	119003884	-	ENSG00000229272.1	antisense	-	-	-	-
RP11-498M5.2	chr4	101976894	102036903	-	ENSG00000251309.1	antisense	-	-	-	-
RP11-498P14.5	chr9	97200475	97238700	-	ENSG00000203279.3	lincRNA	-	-	-	-
RP11-499E18.1	chr4	102418602	102450010	-	ENSG00000248161.5	lincRNA	-	-	-	-
RP11-499O7.7	chr10	4995488	4997380	+	ENSG00000224251.6	antisense	-	-	-	-
RP11-499P20.2	chr10	18513115	18545651	-	ENSG00000240291.1	antisense	-	-	-	-
RP11-49G10.3	chr20	33214920	33217067	-	ENSG00000224876.1	antisense	-	-	-	-
RP11-49I11.1	chr18	36179996	36187448	-	ENSG00000260552.1	antisense	-	-	-	-
RP11-49I11.4	chr18	36189824	36190272	+	ENSG00000274849.1	sense_intronic	-	-	-	-
RP11-49K24.4	chr18	47077361	47091280	-	ENSG00000266957.1	antisense	-	-	-	-
RP11-49K24.5	chr18	47137018	47137290	+	ENSG00000267800.1	processed_pseudogene	-	-	-	-
RP11-49K24.8	chr18	47105946	47108062	+	ENSG00000267724.1	antisense	-	-	-	-
RP11-49O14.2	chr9	94900429	94904754	+	ENSG00000236095.1	sense_intronic	-	-	-	-
RP11-49O14.3	chr9	94824272	94824773	+	ENSG00000230815.1	sense_intronic	-	-	-	-
RP11-4O1.2	chr9	112032555	112037730	-	ENSG00000259953.1	sense_overlapping	-	-	-	-
RP11-500G22.5	chr10	121965764	121967700	+	ENSG00000273891.1	antisense	-	-	-	-
RP11-501C14.6	chr17	49004731	49013725	-	ENSG00000251461.3	antisense	-	-	-	-
RP11-501C14.9	chr17	48899131	48899748	+	ENSG00000270781.1	processed_pseudogene	-	-	-	-
RP11-501O2.1	chr3	148093175	148127233	+	ENSG00000241792.1	lincRNA	-	-	-	-
RP11-501O2.3	chr3	148160911	148226606	+	ENSG00000244650.2	lincRNA	-	-	-	-
RP11-502I4.3	chr15	67541072	67542604	-	ENSG00000270964.1	lincRNA	-	-	-	-
RP11-503E24.2	chr8	42537529	42538304	-	ENSG00000254165.1	antisense	-	-	-	-
RP11-503G7.2	chr12	132462242	132462856	+	ENSG00000256875.2	lincRNA	-	-	-	-
RP11-503L19.1	chr4	148693032	148694323	+	ENSG00000250357.1	lincRNA	-	-	-	-
RP11-503N18.5	chr4	2505081	2506279	-	ENSG00000251229.1	processed_pseudogene	-	-	-	-
RP11-503P10.1	chr2	27053618	27054276	-	ENSG00000272056.1	antisense	-	-	-	-
RP11-504A18.1	chr1	56248294	56258571	-	ENSG00000260971.3	lincRNA	-	-	-	-
RP11-504G3.2	chr11	18601882	18602649	+	ENSG00000279837.1	TEC	-	-	-	-
RP11-504G3.4	chr11	18595459	18599683	-	ENSG00000256282.1	transcribed_processed_pseudogene	-	-	-	-
RP11-505E24.2	chr15	101050732	101086066	-	ENSG00000259755.1	antisense	-	-	-	-
RP11-505E24.3	chr15	101043716	101049456	-	ENSG00000259376.1	antisense	-	-	-	-
RP11-505K9.4	chr16	83908132	83951445	+	ENSG00000260300.5	protein_coding	-	-	-	-
RP11-505K9.5	chr16	84085979	84086590	-	ENSG00000274677.1	sense_intronic	-	-	-	-
RP11-505O17.1	chr1	182955390	182956148	-	ENSG00000226570.2	processed_pseudogene	-	-	-	-
RP11-506H20.1	chr5	55233934	55295201	+	ENSG00000251307.1	antisense	-	-	-	-
RP11-506H21.5	chr17	58202352	58203003	-	ENSG00000278627.1	antisense	-	-	-	-
RP11-506M12.1	chr7	100115214	100127139	-	ENSG00000242798.1	antisense	-	-	-	-
RP11-506M13.3	chr10	79660891	79677996	+	ENSG00000244733.5	lincRNA	-	-	-	-
RP11-507B12.1	chr15	61639349	61715171	-	ENSG00000259675.1	lincRNA	-	-	-	-
RP11-507B12.2	chr15	61298791	61635449	-	ENSG00000259616.2	lincRNA	-	-	-	-
RP11-507J18.1	chr15	50798670	50798951	+	ENSG00000241130.1	processed_pseudogene	-	-	-	-
RP11-507K2.2	chr14	88499334	88515502	+	ENSG00000258983.2	antisense	-	-	-	-
RP11-507K2.3	chr14	88551597	88552493	+	ENSG00000258789.1	antisense	-	-	-	-
RP11-507M3.1	chr2	24124366	24190436	+	ENSG00000276087.1	protein_coding	-	-	-	-
RP11-508M8.1	chr5	125108204	125149929	+	ENSG00000249365.1	lincRNA	-	-	-	-
RP11-509E10.1	chr16	6056975	6092954	+	ENSG00000257180.1	sense_intronic	-	-	-	-
RP11-50B3.1	chr11	126179497	126179698	-	ENSG00000254771.1	processed_pseudogene	-	-	-	-
RP11-50B3.2	chr11	126160714	126176035	+	ENSG00000254833.1	lincRNA	-	-	-	-
RP11-50B3.4	chr11	126208611	126209027	-	ENSG00000254694.1	antisense	-	-	-	-
RP11-50C13.1	chr15	58587507	58591676	+	ENSG00000259250.1	antisense	-	-	-	-
RP11-50C13.2	chr15	58521311	58523371	+	ENSG00000259476.1	sense_intronic	-	-	-	-
RP11-50D16.4	chr13	39053072	39221927	+	ENSG00000273507.4	lincRNA	-	-	-	-
RP11-50I19.1	chr12	32007127	32007435	+	ENSG00000257094.1	processed_pseudogene	-	-	-	-
RP11-510M2.2	chr16	71462278	71465941	+	ENSG00000247324.2	antisense	-	-	-	-
RP11-510M2.5	chr16	71539834	71541825	-	ENSG00000260015.1	sense_intronic	-	-	-	-
RP11-511B23.2	chr12	93003415	93215679	-	ENSG00000257322.5	antisense	-	-	-	-
RP11-511B23.3	chr12	93174366	93181832	+	ENSG00000258171.1	lincRNA	-	-	-	-
RP11-511H23.2	chr7	17940503	17942922	+	ENSG00000279048.1	TEC	-	-	-	-
RP11-511H9.3	chr12	101773114	101773755	-	ENSG00000258230.2	transcribed_processed_pseudogene	-	-	-	-
RP11-513D5.2	chr8	38335981	38337551	+	ENSG00000254898.1	antisense	-	-	-	-
RP11-513I15.6	chr6	34248568	34286768	+	ENSG00000225339.3	processed_transcript	-	-	-	-
RP11-513M16.7	chr9	19371386	19371945	-	ENSG00000272842.1	antisense	-	-	-	-
RP11-513M16.8	chr9	19375451	19375996	+	ENSG00000273226.1	antisense	-	-	-	-
RP11-513N24.1	chr16	65861112	65863784	-	ENSG00000260695.1	lincRNA	-	-	-	-
RP11-513O13.1	chr8	48428143	48431041	-	ENSG00000279881.1	TEC	-	-	-	-
RP11-514P8.2	chr7	102426818	102434780	-	ENSG00000239480.1	antisense	-	-	-	-
RP11-514P8.8	chr7	102483344	102543764	-	ENSG00000272949.1	processed_transcript	-	-	-	-
RP11-517C16.2	chr16	84459259	84467361	-	ENSG00000261286.1	antisense	-	-	-	-
RP11-517C16.4	chr16	84495599	84497495	+	ENSG00000261243.1	antisense	-	-	-	-
RP11-517P14.7	chr10	43523256	43525217	+	ENSG00000236114.1	unprocessed_pseudogene	-	-	-	-
RP11-519C12.1	chr15	52648634	52649866	-	ENSG00000259935.1	sense_intronic	-	-	-	-
RP11-51F16.1	chr17	63700847	63702670	+	ENSG00000279369.1	TEC	-	-	-	-
RP11-51F16.9	chr17	63610772	63611184	-	ENSG00000270587.1	processed_pseudogene	-	-	-	-
RP11-520A21.1	chr3	40970541	40971578	-	ENSG00000233096.1	lincRNA	-	-	-	-
RP11-520H14.1	chr1	228134785	228134992	-	ENSG00000227625.2	processed_pseudogene	-	-	-	-
RP11-521B24.3	chr14	105416884	105419739	-	ENSG00000251602.6	antisense	-	-	-	-
RP11-521B24.5	chr14	105467793	105470617	-	ENSG00000257270.1	antisense	-	-	-	-
RP11-521C20.2	chr15	40075204	40078704	-	ENSG00000259584.1	lincRNA	-	-	-	-
RP11-521C20.5	chr15	40078892	40079347	+	ENSG00000275636.1	lincRNA	-	-	-	-
RP11-521D12.2	chr2	9674023	9708413	+	ENSG00000244260.1	lincRNA	-	-	-	-
RP11-522B15.1	chr15	96448154	96448493	+	ENSG00000242295.1	processed_pseudogene	-	-	-	-
RP11-522B15.7	chr15	96448842	96449749	+	ENSG00000259534.1	lincRNA	-	-	-	-
RP11-522I20.3	chr9	83707594	83713378	+	ENSG00000254473.1	antisense	-	-	-	-
RP11-522N14.2	chr12	124206228	124209018	+	ENSG00000256596.1	lincRNA	-	-	-	-
RP11-523H20.3	chr2	74501717	74502365	+	ENSG00000272183.1	antisense	-	-	-	-
RP11-523O18.5	chr10	48976554	48993046	-	ENSG00000233665.8	processed_transcript	-	-	-	-
RP11-524F11.1	chr17	17507351	17508308	+	ENSG00000265511.1	antisense	-	-	-	-
RP11-524F11.3	chr17	17616043	17617745	+	ENSG00000279200.1	TEC	-	-	-	-
RP11-524G24.2	chr9	121574891	121576214	-	ENSG00000229854.1	antisense	-	-	-	-
RP11-524H19.2	chr6	54840118	54840855	-	ENSG00000224984.1	antisense	-	-	-	-
RP11-524N5.1	chr5	158320683	158409773	-	ENSG00000276778.1	lincRNA	-	-	-	-
RP11-525E9.1	chr12	9506347	9508440	-	ENSG00000256975.1	processed_pseudogene	-	-	-	-
RP11-526D8.7	chr9	92882567	92899608	+	ENSG00000226668.5	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-526I2.5	chr15	100547765	100550153	-	ENSG00000270127.2	lincRNA	-	-	-	-
RP11-527J8.1	chr2	99405218	99405843	+	ENSG00000273306.1	antisense	-	-	-	-
RP11-527N22.2	chr8	37405439	37406724	-	ENSG00000253746.1	lincRNA	-	-	-	-
RP11-528A10.1	chr6	18366736	18368644	-	ENSG00000218976.2	unprocessed_pseudogene	-	-	-	-
RP11-528I4.2	chr4	55547112	55547889	+	ENSG00000272969.1	antisense	-	-	-	-
RP11-529A4.7	chr11	89978540	89980661	+	ENSG00000255305.1	unprocessed_pseudogene	-	-	-	-
RP11-529E10.6	chr4	3503597	3504457	-	ENSG00000261643.1	sense_overlapping	-	-	-	-
RP11-529E10.7	chr4	3544555	3548796	+	ENSG00000270090.5	lincRNA	-	-	-	-
RP11-529H2.2	chr4	87317170	87345210	-	ENSG00000255723.1	processed_transcript	-	-	-	-
RP11-529K1.2	chr16	70315640	70346747	-	ENSG00000261777.5	processed_transcript	-	-	-	-
RP11-530A18.1	chr6	5065795	5066982	-	ENSG00000220685.3	processed_pseudogene	-	-	-	-
RP11-531A24.3	chr8	72947150	72950445	+	ENSG00000260838.3	lincRNA	-	-	-	-
RP11-531A24.5	chr8	73052178	73063061	+	ENSG00000253636.1	antisense	-	-	-	-
RP11-532F6.3	chr6	708592	711405	-	ENSG00000272463.1	lincRNA	-	-	-	-
RP11-532F6.4	chr6	711533	750729	+	ENSG00000271727.1	lincRNA	-	-	-	-
RP11-532N4.2	chr6	123389421	123510241	+	ENSG00000235535.7	antisense	-	-	-	-
RP11-534L20.4	chr1	206528915	206529706	+	ENSG00000234981.1	processed_pseudogene	-	-	-	-
RP11-534L20.5	chr1	206503948	206504456	+	ENSG00000261000.1	lincRNA	-	-	-	-
RP11-535A19.1	chr11	75800877	75803415	-	ENSG00000254814.1	antisense	-	-	-	-
RP11-535A19.2	chr11	75803431	75815406	-	ENSG00000255507.5	antisense	-	-	-	-
RP11-535C21.3	chr9	97986551	97987656	-	ENSG00000236896.1	antisense	-	-	-	-
RP11-535M15.1	chr9	96687056	96721121	+	ENSG00000224848.1	lincRNA	-	-	-	-
RP11-535M15.2	chr9	96725890	96727469	+	ENSG00000233820.2	transcribed_processed_pseudogene	-	-	-	-
RP11-536C12.1	chr2	46668870	46670778	+	ENSG00000279254.1	TEC	-	-	-	-
RP11-536C5.2	chr1	160062488	160079821	+	ENSG00000225279.1	antisense	-	-	-	-
RP11-536C5.7	chr1	160202199	160208869	-	ENSG00000227741.1	antisense	-	-	-	-
RP11-536K7.3	chr10	5934270	5945900	-	ENSG00000232807.2	antisense	-	-	-	-
RP11-536K7.5	chr10	6025978	6036427	+	ENSG00000229664.1	antisense	-	-	-	-
RP11-536L3.4	chr1	205091163	205091946	+	ENSG00000271580.1	processed_pseudogene	-	-	-	-
RP11-536O18.1	chr9	13446491	13487511	+	ENSG00000226197.2	lincRNA	-	-	-	-
RP11-537E18.1	chr2	109552536	109552846	+	ENSG00000237916.1	processed_pseudogene	-	-	-	-
RP11-537I16.2	chr3	185606575	185606873	+	ENSG00000236489.1	processed_pseudogene	-	-	-	-
RP11-538D16.3	chr1	182086551	182090112	+	ENSG00000225982.1	lincRNA	-	-	-	-
RP11-538P18.2	chr3	158545220	158571066	-	ENSG00000243150.5	antisense	-	-	-	-
RP11-539G18.1	chr4	39713842	39714451	-	ENSG00000249019.2	processed_pseudogene	-	-	-	-
RP11-539G18.3	chr4	39639140	39666644	+	ENSG00000255458.5	lincRNA	-	-	-	-
RP11-539I5.1	chr10	116828761	116850205	-	ENSG00000225302.2	processed_transcript	-	-	-	-
RP11-539L10.3	chr4	6670725	6673830	-	ENSG00000251580.1	lincRNA	-	-	-	-
RP11-53B2.2	chr18	13486462	13490676	+	ENSG00000267702.1	sense_intronic	-	-	-	-
RP11-53B2.6	chr18	13526078	13526688	+	ENSG00000272746.1	sense_intronic	-	-	-	-
RP11-53B5.1	chr9	93857083	93858333	+	ENSG00000231990.1	lincRNA	-	-	-	-
RP11-53O19.1	chr5	44744900	44808777	-	ENSG00000251141.5	antisense	-	-	-	-
RP11-53O19.2	chr5	44752949	44765744	+	ENSG00000248779.1	lincRNA	-	-	-	-
RP11-53O19.3	chr5	44826076	44828592	+	ENSG00000272335.1	lincRNA	-	-	-	-
RP11-540A21.2	chr11	9754770	9759533	-	ENSG00000245522.2	lincRNA	-	-	-	-
RP11-540B6.6	chr15	30926514	30928407	+	ENSG00000270015.1	sense_intronic	-	-	-	-
RP11-540O11.4	chr15	41016807	41027893	+	ENSG00000259521.1	antisense	-	-	-	-
RP11-540O11.6	chr15	40999274	41004865	+	ENSG00000259617.1	antisense	-	-	-	-
RP11-540O11.7	chr15	41011597	41013300	+	ENSG00000259463.1	antisense	-	-	-	-
RP11-541G9.1	chr12	96985656	97185609	+	ENSG00000258131.1	lincRNA	-	-	-	-
RP11-541N10.3	chr10	103877374	103879761	-	ENSG00000260461.1	sense_overlapping	-	-	-	-
RP11-542B15.1	chr12	67519829	67567126	+	ENSG00000203585.3	lincRNA	-	-	-	-
RP11-542C16.1	chr17	7352687	7354944	-	ENSG00000263171.1	antisense	-	-	-	-
RP11-542M13.2	chr16	85981750	85984723	+	ENSG00000269667.1	lincRNA	-	-	-	-
RP11-543N12.1	chr16	83383007	83398170	-	ENSG00000261410.1	antisense	-	-	-	-
RP11-544H14.1	chr2	202995194	202995403	+	ENSG00000270664.1	processed_pseudogene	-	-	-	-
RP11-545I5.3	chr6	145799409	145886585	+	ENSG00000235652.7	antisense	-	-	-	-
RP11-546B8.6	chr5	171305981	171308755	-	ENSG00000275038.1	protein_coding	-	-	-	-
RP11-546D6.3	chr12	123152324	123153377	-	ENSG00000280120.1	TEC	-	-	-	-
RP11-547D23.1	chr14	53153354	53157528	+	ENSG00000258731.1	antisense	-	-	-	-
RP11-548H18.2	chr4	119391831	119395335	-	ENSG00000249244.1	unprocessed_pseudogene	-	-	-	-
RP11-548H3.1	chr2	218633256	218634014	-	ENSG00000273466.1	antisense	-	-	-	-
RP11-54A4.2	chr1	150548562	150557724	-	ENSG00000237781.3	antisense	-	-	-	-
RP11-54C4.2	chr5	151848886	151850791	+	ENSG00000270978.1	processed_pseudogene	-	-	-	-
RP11-54F2.1	chr5	10652211	10655925	-	ENSG00000251196.1	unprocessed_pseudogene	-	-	-	-
RP11-54O15.3	chr9	94928551	94934946	-	ENSG00000224764.1	antisense	-	-	-	-
RP11-54O7.11	chr1	1011997	1013193	-	ENSG00000224969.1	antisense	-	-	-	-
RP11-54O7.14	chr1	1055033	1056116	+	ENSG00000242590.1	sense_intronic	-	-	-	-
RP11-54O7.17	chr1	995966	998051	-	ENSG00000272512.1	lincRNA	-	-	-	-
RP11-54O7.18	chr1	1062208	1063288	-	ENSG00000273443.1	lincRNA	-	-	-	-
RP11-550I24.2	chr3	157175223	157381265	+	ENSG00000243176.5	processed_transcript	-	-	-	-
RP11-552E10.1	chr15	47603880	47606352	-	ENSG00000259588.1	antisense	-	-	-	-
RP11-552F3.10	chr17	75897060	75900148	+	ENSG00000267342.1	antisense	-	-	-	-
RP11-552F3.4	chr17	75818815	75820055	-	ENSG00000266980.1	antisense	-	-	-	-
RP11-552F3.9	chr17	75876372	75879546	+	ENSG00000267801.1	antisense	-	-	-	-
RP11-552I14.1	chr12	103151842	103168309	+	ENSG00000257860.5	lincRNA	-	-	-	-
RP11-553D4.2	chr3	113360267	113361319	+	ENSG00000240751.1	processed_pseudogene	-	-	-	-
RP11-553K23.2	chr3	139582928	139583593	-	ENSG00000214280.3	processed_pseudogene	-	-	-	-
RP11-553L6.2	chr3	114214313	114236204	+	ENSG00000241490.1	antisense	-	-	-	-
RP11-554A11.4	chr11	69000765	69002048	-	ENSG00000261625.1	sense_overlapping	-	-	-	-
RP11-554A11.7	chr11	69103493	69109094	+	ENSG00000260895.1	lincRNA	-	-	-	-
RP11-554A11.8	chr11	69147228	69171564	-	ENSG00000261070.1	lincRNA	-	-	-	-
RP11-554D13.1	chr4	94675245	94702570	+	ENSG00000249951.1	lincRNA	-	-	-	-
RP11-554D14.2	chr12	107903270	107903948	-	ENSG00000258072.1	processed_pseudogene	-	-	-	-
RP11-554D14.4	chr12	107880581	107883386	+	ENSG00000257951.2	unprocessed_pseudogene	-	-	-	-
RP11-554D14.6	chr12	107839291	107864562	-	ENSG00000257398.6	lincRNA	-	-	-	-
RP11-554D14.8	chr12	107835541	107836555	-	ENSG00000274395.1	lincRNA	-	-	-	-
RP11-554D15.3	chr6	74530248	74734279	-	ENSG00000272243.5	lincRNA	-	-	-	-
RP11-554D20.1	chr15	60763906	60765625	+	ENSG00000259591.1	antisense	-	-	-	-
RP11-554E23.2	chr12	101954998	101962390	-	ENSG00000258308.5	lincRNA	-	-	-	-
RP11-554E23.4	chr12	102063355	102074820	+	ENSG00000257222.1	antisense	-	-	-	-
RP11-554F20.1	chr9	99585786	99819889	-	ENSG00000237461.1	lincRNA	-	-	-	-
RP11-554I8.1	chr10	6618716	6625346	+	ENSG00000225948.2	lincRNA	-	-	-	-
RP11-554J4.1	chr2	55617909	55618373	+	ENSG00000272606.1	antisense	-	-	-	-
RP11-554L12.1	chr12	39087713	39092874	-	ENSG00000258144.1	lincRNA	-	-	-	-
RP11-555K12.1	chr4	152551277	152552364	-	ENSG00000243417.1	processed_pseudogene	-	-	-	-
RP11-555M1.3	chr3	157163452	157169133	+	ENSG00000241770.1	antisense	-	-	-	-
RP11-556H2.3	chr16	79090050	79101754	+	ENSG00000260479.1	sense_intronic	-	-	-	-
RP11-556I14.1	chr4	104907357	105120000	+	ENSG00000248373.5	lincRNA	-	-	-	-
RP11-556O15.1	chr6	6993191	6995554	+	ENSG00000203498.2	lincRNA	-	-	-	-
RP11-556O9.2	chr17	63117019	63130947	-	ENSG00000264513.1	antisense	-	-	-	-
RP11-557H15.3	chr6	134428240	134520585	-	ENSG00000231971.5	lincRNA	-	-	-	-
RP11-557H15.5	chr6	134606299	134609437	-	ENSG00000229722.1	lincRNA	-	-	-	-
RP11-557N21.1	chr2	23667208	23685453	-	ENSG00000283031.1	lincRNA	-	-	-	-
RP11-55K22.2	chr6	136900233	136901529	-	ENSG00000213109.4	transcribed_processed_pseudogene	-	-	-	-
RP11-560J1.2	chr6	15243923	15245000	-	ENSG00000271888.1	lincRNA	-	-	-	-
RP11-561B11.1	chr14	35388121	35389069	-	ENSG00000240023.1	processed_pseudogene	-	-	-	-
RP11-561C5.4	chr15	85205440	85234795	-	ENSG00000229212.7	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-561N12.6	chr7	64566814	64567443	-	ENSG00000235349.1	processed_pseudogene	-	-	-	-
RP11-562A8.1	chr15	50466738	50467096	+	ENSG00000242737.1	processed_pseudogene	-	-	-	-
RP11-562A8.4	chr15	50497195	50498744	-	ENSG00000259298.1	antisense	-	-	-	-
RP11-562A8.5	chr15	50494018	50497080	-	ENSG00000259618.1	lincRNA	-	-	-	-
RP11-562I5.1	chr2	231493708	231495299	-	ENSG00000283312.1	processed_pseudogene	-	-	-	-
RP11-562I5.2	chr2	231497090	231507256	-	ENSG00000283491.1	unprocessed_pseudogene	-	-	-	-
RP11-562L8.1	chr14	29264381	29381295	-	ENSG00000257522.5	processed_transcript	-	-	-	-
RP11-563J2.3	chr10	6350316	6352762	+	ENSG00000212743.2	lincRNA	-	-	-	-
RP11-563N12.2	chr8	20350210	20372769	+	ENSG00000253164.5	lincRNA	-	-	-	-
RP11-563N4.1	chr2	32165046	32165757	-	ENSG00000272716.1	lincRNA	-	-	-	-
RP11-563N6.6	chr10	48878022	48878649	+	ENSG00000228403.1	sense_intronic	-	-	-	-
RP11-563P16.1	chr11	103675994	103895271	-	ENSG00000254987.1	lincRNA	-	-	-	-
RP11-564A8.8	chr1	206905928	206906393	+	ENSG00000271680.1	processed_pseudogene	-	-	-	-
RP11-565J7.1	chr1	211936249	211936634	+	ENSG00000233626.2	processed_pseudogene	-	-	-	-
RP11-565P22.2	chr1	162316852	162317794	-	ENSG00000227094.1	antisense	-	-	-	-
RP11-566J3.2	chr14	100675930	100679884	-	ENSG00000258717.1	lincRNA	-	-	-	-
RP11-566K11.5	chr16	89969791	89972544	+	ENSG00000261317.1	antisense	-	-	-	-
RP11-567C2.1	chr12	90107739	90112779	+	ENSG00000257194.2	lincRNA	-	-	-	-
RP11-567C20.2	chr1	50174306	50175868	-	ENSG00000237337.1	antisense	-	-	-	-
RP11-567F11.1	chr2	148044380	148044894	+	ENSG00000281469.1	TEC	-	-	-	-
RP11-567J20.1	chr8	48597458	48621018	-	ENSG00000253702.1	lincRNA	-	-	-	-
RP11-567J20.2	chr8	48551527	48556441	-	ENSG00000253688.2	lincRNA	-	-	-	-
RP11-567J20.3	chr8	48515852	48517089	-	ENSG00000253140.1	lincRNA	-	-	-	-
RP11-567L7.5	chr17	59400488	59403303	-	ENSG00000266002.1	antisense	-	-	-	-
RP11-567M16.1	chr18	79576460	79589010	+	ENSG00000267287.1	processed_transcript	-	-	-	-
RP11-567M16.5	chr18	79702721	79703651	-	ENSG00000266901.1	antisense	-	-	-	-
RP11-568G11.4	chr1	220207618	220208282	+	ENSG00000270585.1	processed_pseudogene	-	-	-	-
RP11-568J23.2	chr16	85859521	85862012	+	ENSG00000279907.1	TEC	-	-	-	-
RP11-568J23.5	chr16	85784382	85787617	+	ENSG00000270184.1	antisense	-	-	-	-
RP11-568J23.6	chr16	85792415	85792933	+	ENSG00000270159.1	antisense	-	-	-	-
RP11-568J23.8	chr16	85697335	85697868	-	ENSG00000275393.1	sense_intronic	-	-	-	-
RP11-568K15.1	chr1	178006136	178037950	-	ENSG00000242193.10	transcribed_unitary_pseudogene	-	-	-	-
RP11-569D9.5	chr13	114179238	114223084	+	ENSG00000283361.1	protein_coding	-	-	-	-
RP11-569D9.6	chr13	114175485	114215835	-	ENSG00000283347.1	antisense	-	-	-	-
RP11-569G13.2	chr9	96095211	96101912	+	ENSG00000237212.1	lincRNA	-	-	-	-
RP11-569G9.7	chr1	26326688	26327033	+	ENSG00000225854.2	processed_pseudogene	-	-	-	-
RP11-56B16.1	chr15	51859185	51861293	-	ENSG00000259632.2	processed_pseudogene	-	-	-	-
RP11-56B16.2	chr15	51919073	51930627	-	ENSG00000259556.2	unprocessed_pseudogene	-	-	-	-
RP11-56I23.1	chr10	105808775	105819197	-	ENSG00000229466.1	lincRNA	-	-	-	-
RP11-571L19.8	chr4	99067256	99068125	-	ENSG00000272777.1	lincRNA	-	-	-	-
RP11-571M6.17	chr12	57803838	57804415	+	ENSG00000270039.1	lincRNA	-	-	-	-
RP11-571M6.18	chr12	57814494	57814926	+	ENSG00000269903.1	lincRNA	-	-	-	-
RP11-571M6.7	chr12	57694132	57721510	-	ENSG00000257342.1	antisense	-	-	-	-
RP11-572C21.1	chr12	129852208	129854944	-	ENSG00000251536.2	lincRNA	-	-	-	-
RP11-572M11.2	chr3	113041390	113041814	-	ENSG00000243483.1	processed_pseudogene	-	-	-	-
RP11-572M11.4	chr3	113019532	113183301	+	ENSG00000240057.5	antisense	-	-	-	-
RP11-572O17.1	chr4	1712821	1713622	+	ENSG00000270195.1	lincRNA	-	-	-	-
RP11-572O6.1	chr3	48672455	48672733	+	ENSG00000271973.1	lincRNA	-	-	-	-
RP11-573D15.1	chr3	186826549	186827337	+	ENSG00000231982.1	unprocessed_pseudogene	-	-	-	-
RP11-573D15.9	chr3	186781780	186784179	-	ENSG00000263826.1	antisense	-	-	-	-
RP11-573M3.3	chr11	93152075	93152750	+	ENSG00000255445.1	processed_pseudogene	-	-	-	-
RP11-574F21.2	chr1	160261744	160262778	+	ENSG00000228606.1	antisense	-	-	-	-
RP11-574K11.24	chr10	73742995	73744230	-	ENSG00000279088.1	TEC	-	-	-	-
RP11-574K11.29	chr10	73703735	73713581	-	ENSG00000272140.2	lincRNA	-	-	-	-
RP11-574K11.32	chr10	73769264	73772862	-	ENSG00000279689.1	TEC	-	-	-	-
RP11-574M7.1	chr11	50307681	50361706	+	ENSG00000254840.1	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-574M7.2	chr11	50409042	50422316	+	ENSG00000214883.4	unprocessed_pseudogene	-	-	-	-
RP11-574O16.1	chr2	216995906	216996490	+	ENSG00000259855.1	lincRNA	-	-	-	-
RP11-575I8.1	chr9	27829276	27844481	+	ENSG00000260390.1	lincRNA	-	-	-	-
RP11-575L7.4	chr9	83831586	83868532	+	ENSG00000231616.8	antisense	-	-	-	-
RP11-575L7.8	chr9	83972233	83975777	+	ENSG00000235298.1	antisense	-	-	-	-
RP11-576I22.2	chr1	170460453	170532647	-	ENSG00000231407.5	antisense	-	-	-	-
RP11-576N17.3	chr4	83247179	83248206	+	ENSG00000248401.2	processed_pseudogene	-	-	-	-
RP11-576N17.5	chr4	83233512	83247213	-	ENSG00000250057.1	lincRNA	-	-	-	-
RP11-577H5.1	chr7	102755146	102755939	+	ENSG00000213385.3	processed_pseudogene	-	-	-	-
RP11-578O24.2	chr8	78723796	78724136	-	ENSG00000254352.1	processed_pseudogene	-	-	-	-
RP11-579A4.1	chr17	58747055	58747340	+	ENSG00000274198.1	lincRNA	-	-	-	-
RP11-579D7.2	chr12	48766194	48767323	+	ENSG00000257653.1	antisense	-	-	-	-
RP11-579D7.8	chr12	48800576	48801086	-	ENSG00000271547.1	processed_pseudogene	-	-	-	-
RP11-57A19.2	chr16	28284885	28292064	-	ENSG00000246465.1	lincRNA	-	-	-	-
RP11-57A19.4	chr16	28659696	28740781	-	ENSG00000261419.1	unprocessed_pseudogene	-	-	-	-
RP11-57B24.1	chr4	82691737	82692468	+	ENSG00000270480.1	processed_pseudogene	-	-	-	-
RP11-57G10.8	chr10	67849525	67850746	+	ENSG00000272892.1	lincRNA	-	-	-	-
RP11-57H12.5	chr1	95243167	95278940	-	ENSG00000228852.6	antisense	-	-	-	-
RP11-57H14.2	chr10	112950646	112951875	-	ENSG00000233547.1	antisense	-	-	-	-
RP11-57H14.4	chr10	112823490	112827726	+	ENSG00000260917.1	sense_overlapping	-	-	-	-
RP11-57K17.1	chr6	118452469	118454992	-	ENSG00000216809.1	processed_pseudogene	-	-	-	-
RP11-580I16.2	chr17	47603860	47649420	-	ENSG00000263766.5	antisense	-	-	-	-
RP11-582E3.4	chr12	27121910	27147664	+	ENSG00000256625.1	unprocessed_pseudogene	-	-	-	-
RP11-582E3.6	chr12	27037100	27038960	+	ENSG00000275764.1	lincRNA	-	-	-	-
RP11-582J16.4	chr8	22540845	22545405	-	ENSG00000251034.1	antisense	-	-	-	-
RP11-582J16.5	chr8	22613908	22616657	-	ENSG00000253200.1	antisense	-	-	-	-
RP11-583F2.1	chr17	64927634	64934203	+	ENSG00000264057.1	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-584P21.2	chr4	67417305	67468251	-	ENSG00000250075.5	lincRNA	-	-	-	-
RP11-586K2.1	chr8	88326836	88737134	+	ENSG00000253553.5	antisense	-	-	-	-
RP11-587D21.1	chr11	27581680	27582055	+	ENSG00000240036.4	processed_pseudogene	-	-	-	-
RP11-587P21.2	chr12	91877391	91880655	+	ENSG00000257893.2	lincRNA	-	-	-	-
RP11-588F10.1	chr4	52440494	52441535	-	ENSG00000251286.2	processed_pseudogene	-	-	-	-
RP11-588G21.1	chr12	69660034	69661429	-	ENSG00000279551.1	TEC	-	-	-	-
RP11-588K22.2	chr4	155734448	155737062	+	ENSG00000260244.1	sense_overlapping	-	-	-	-
RP11-589B3.7	chr10	79526508	79526631	-	ENSG00000271985.1	processed_pseudogene	-	-	-	-
RP11-589M4.4	chr14	52871458	52872217	+	ENSG00000271075.1	processed_pseudogene	-	-	-	-
RP11-589N15.2	chr8	11846154	11846391	-	ENSG00000269899.1	sense_intronic	-	-	-	-
RP11-58A11.2	chr1	6547905	6548619	+	ENSG00000229519.2	processed_pseudogene	-	-	-	-
RP11-58A17.3	chr12	57967058	57968399	+	ENSG00000257159.1	processed_pseudogene	-	-	-	-
RP11-58O9.2	chr17	40473554	40475289	-	ENSG00000279806.1	TEC	-	-	-	-
RP11-591L14.2	chr15	79743311	79743468	+	ENSG00000260674.2	processed_pseudogene	-	-	-	-
RP11-594N15.3	chr8	78605952	78609705	+	ENSG00000260398.1	sense_overlapping	-	-	-	-
RP11-596D21.1	chr14	31248628	31302739	+	ENSG00000257831.1	antisense	-	-	-	-
RP11-597G23.1	chr15	37253879	37254952	+	ENSG00000270304.1	processed_pseudogene	-	-	-	-
RP11-598P20.3	chr8	43125995	43126397	-	ENSG00000254198.1	processed_pseudogene	-	-	-	-
RP11-599B13.8	chr17	8199123	8199437	-	ENSG00000271002.1	processed_pseudogene	-	-	-	-
RP11-599B13.9	chr17	8063936	8072533	+	ENSG00000275011.1	unprocessed_pseudogene	-	-	-	-
RP11-599J14.2	chr12	9398355	9414851	-	ENSG00000256673.1	unprocessed_pseudogene	-	-	-	-
RP11-59C5.3	chr10	124996064	125001491	+	ENSG00000273599.1	antisense	-	-	-	-
RP11-59H7.3	chr15	59121034	59133250	+	ENSG00000259732.1	sense_overlapping	-	-	-	-
RP11-59H7.4	chr15	59115547	59116089	-	ENSG00000277144.1	lincRNA	-	-	-	-
RP11-59N23.3	chr12	21662313	21760032	+	ENSG00000256615.1	antisense	-	-	-	-
RP11-59O6.3	chr9	267966	273002	-	ENSG00000235880.1	antisense	-	-	-	-
RP11-5C23.2	chr7	154956429	154957107	+	ENSG00000273183.1	antisense	-	-	-	-
RP11-5G9.5	chr13	43877715	43878163	-	ENSG00000274001.1	sense_intronic	-	-	-	-
RP11-5O17.1	chr3	53046166	53048122	+	ENSG00000280417.1	TEC	-	-	-	-
RP11-5O23.2	chr15	78339208	78341757	-	ENSG00000279694.1	TEC	-	-	-	-
RP11-5P18.10	chr1	16035178	16040029	-	ENSG00000232456.1	unprocessed_pseudogene	-	-	-	-
RP11-600F24.7	chr14	103525010	103529072	-	ENSG00000260285.1	antisense	-	-	-	-
RP11-602N24.3	chr4	109815047	109815410	-	ENSG00000272795.1	lincRNA	-	-	-	-
RP11-603J24.17	chr12	56104614	56113905	-	ENSG00000257553.1	antisense	-	-	-	-
RP11-603J24.21	chr12	56010091	56010574	-	ENSG00000273890.1	antisense	-	-	-	-
RP11-603J24.7	chr12	55980432	55981035	-	ENSG00000237493.3	processed_pseudogene	-	-	-	-
RP11-607P23.1	chr12	51421956	51424611	-	ENSG00000271065.1	antisense	-	-	-	-
RP11-60E8.2	chr12	50756892	50757433	+	ENSG00000271018.1	processed_pseudogene	-	-	-	-
RP11-60L3.2	chr15	74303005	74304343	+	ENSG00000261384.1	sense_intronic	-	-	-	-
RP11-610P16.1	chr4	151407551	151408835	-	ENSG00000251611.1	lincRNA	-	-	-	-
RP11-611L7.2	chr7	6673494	6676366	+	ENSG00000198580.7	unprocessed_pseudogene	-	-	-	-
RP11-613D13.10	chr11	43855913	43856404	-	ENSG00000283375.1	antisense	-	-	-	-
RP11-613D13.5	chr11	43829709	43880726	-	ENSG00000246250.2	antisense	-	-	-	-
RP11-613E4.4	chr7	55743073	55743457	+	ENSG00000273720.1	processed_pseudogene	-	-	-	-
RP11-613E4.5	chr7	55741525	55741869	+	ENSG00000275875.1	processed_pseudogene	-	-	-	-
RP11-615I2.6	chr16	68591382	68594424	+	ENSG00000275383.1	lincRNA	-	-	-	-
RP11-616M22.12	chr16	1223639	1224143	+	ENSG00000277010.1	antisense	-	-	-	-
RP11-616M22.3	chr16	1206560	1207124	-	ENSG00000261294.1	antisense	-	-	-	-
RP11-616M22.7	chr16	1294551	1299166	-	ENSG00000260710.1	lincRNA	-	-	-	-
RP11-617D20.2	chr4	38618265	38619437	-	ENSG00000271958.1	lincRNA	-	-	-	-
RP11-617F23.1	chr15	90074512	90082207	-	ENSG00000259291.2	antisense	-	-	-	-
RP11-618L22.1	chr12	46970504	46972155	+	ENSG00000274723.1	lincRNA	-	-	-	-
RP11-618M23.5	chr8	19375128	19375622	-	ENSG00000279858.1	TEC	-	-	-	-
RP11-619A14.3	chr11	76210956	76216025	-	ENSG00000255362.1	lincRNA	-	-	-	-
RP11-61A14.4	chr16	66751752	66754740	+	ENSG00000246777.1	lincRNA	-	-	-	-
RP11-61K12.2	chr3	126973065	126976426	+	ENSG00000280053.1	TEC	-	-	-	-
RP11-61K9.3	chr13	19863858	19865048	+	ENSG00000275964.1	lincRNA	-	-	-	-
RP11-61N20.3	chr11	49433480	49434438	-	ENSG00000226268.3	processed_pseudogene	-	-	-	-
RP11-61O1.1	chr14	98068240	98205143	-	ENSG00000259097.1	lincRNA	-	-	-	-
RP11-620J15.2	chr12	57869835	57896482	-	ENSG00000245651.2	lincRNA	-	-	-	-
RP11-620J15.3	chr12	57931528	57936175	-	ENSG00000257698.1	lincRNA	-	-	-	-
RP11-620J15.4	chr12	57894232	57896846	+	ENSG00000273805.1	antisense	-	-	-	-
RP11-621K7.1	chr4	61775449	61775850	-	ENSG00000226439.3	processed_pseudogene	-	-	-	-
RP11-622C24.1	chr15	66808404	66810560	+	ENSG00000270490.1	processed_pseudogene	-	-	-	-
RP11-624D11.2	chr11	30044058	30084343	-	ENSG00000254532.1	lincRNA	-	-	-	-
RP11-624J6.2	chr12	53241889	53245134	+	ENSG00000283536.1	protein_coding	-	-	-	-
RP11-624L4.1	chr15	38865322	39427195	-	ENSG00000259345.5	lincRNA	-	-	-	-
RP11-624M8.1	chr6	125578558	125749190	-	ENSG00000237742.6	antisense	-	-	-	-
RP11-626G11.3	chr16	19119976	19121629	-	ENSG00000261759.1	antisense	-	-	-	-
RP11-626H12.1	chr11	69985876	70015815	+	ENSG00000255191.1	lincRNA	-	-	-	-
RP11-626H12.2	chr11	70014858	70021059	-	ENSG00000254605.1	lincRNA	-	-	-	-
RP11-626H12.3	chr11	70056230	70065371	-	ENSG00000248844.6	lincRNA	-	-	-	-
RP11-626P14.2	chr14	26809417	26836458	+	ENSG00000257185.1	lincRNA	-	-	-	-
RP11-627G18.1	chr18	22200619	22205229	-	ENSG00000266283.1	antisense	-	-	-	-
RP11-627G23.1	chr11	134436473	134505661	+	ENSG00000255545.7	processed_transcript	-	-	-	-
RP11-627J17.1	chr3	33144104	33147721	-	ENSG00000272149.1	antisense	-	-	-	-
RP11-629G13.1	chr11	112959279	112963460	-	ENSG00000247416.2	antisense	-	-	-	-
RP11-629N8.3	chr12	64759521	64779318	+	ENSG00000215159.3	antisense	-	-	-	-
RP11-629O1.2	chr8	133573183	133573861	+	ENSG00000261220.2	lincRNA	-	-	-	-
RP11-62C3.6	chr9	92205356	92210158	+	ENSG00000236115.1	antisense	-	-	-	-
RP11-62F24.2	chr9	16726814	16727524	+	ENSG00000234779.1	antisense	-	-	-	-
RP11-62H20.1	chr14	59919423	59920339	-	ENSG00000261120.1	antisense	-	-	-	-
RP11-62H7.3	chr8	8933721	8934006	-	ENSG00000270966.1	processed_pseudogene	-	-	-	-
RP11-62L18.3	chr10	121615425	121615839	-	ENSG00000223432.1	lincRNA	-	-	-	-
RP11-630A13.4	chr4	56662469	56665694	-	ENSG00000280285.1	TEC	-	-	-	-
RP11-630H24.4	chr17	63900643	63900879	+	ENSG00000259333.1	unprocessed_pseudogene	-	-	-	-
RP11-631N16.2	chr12	62602752	62622213	+	ENSG00000257354.2	lincRNA	-	-	-	-
RP11-631N16.4	chr12	62603909	62604399	+	ENSG00000275180.1	lincRNA	-	-	-	-
RP11-634B7.4	chr1	247639749	247747062	+	ENSG00000235749.2	antisense	-	-	-	-
RP11-638I2.10	chr14	100366628	100366920	+	ENSG00000258581.2	processed_pseudogene	-	-	-	-
RP11-638I2.8	chr14	100333790	100354061	+	ENSG00000258666.1	antisense	-	-	-	-
RP11-638I2.9	chr14	100339832	100340554	+	ENSG00000258521.1	antisense	-	-	-	-
RP11-63E9.1	chr6	141447011	141451006	+	ENSG00000259828.1	lincRNA	-	-	-	-
RP11-63L7.5	chr6	89080164	89080667	-	ENSG00000271931.1	antisense	-	-	-	-
RP11-63M22.1	chr16	66738263	66739326	+	ENSG00000260558.1	lincRNA	-	-	-	-
RP11-63M22.2	chr16	66720897	66731785	+	ENSG00000260465.1	antisense	-	-	-	-
RP11-640L9.2	chr3	36823151	36825158	-	ENSG00000281100.1	TEC	-	-	-	-
RP11-640N20.1	chr17	32003110	32006688	-	ENSG00000264300.1	transcribed_processed_pseudogene	-	-	-	-
RP11-640N20.4	chr17	32051030	32053208	+	ENSG00000278867.1	TEC	-	-	-	-
RP11-640N20.5	chr17	32024469	32024583	-	ENSG00000264497.1	processed_pseudogene	-	-	-	-
RP11-640N20.6	chr17	32083179	32097065	+	ENSG00000264164.1	transcribed_processed_pseudogene	-	-	-	-
RP11-641A6.3	chr12	52692605	52696788	+	ENSG00000257700.1	antisense	-	-	-	-
RP11-641C17.1	chr3	60732144	60732636	-	ENSG00000244183.1	processed_pseudogene	-	-	-	-
RP11-641D5.2	chr3	169447867	169477052	+	ENSG00000241479.1	antisense	-	-	-	-
RP11-643C9.2	chr11	69921638	69926813	-	ENSG00000260679.1	lincRNA	-	-	-	-
RP11-643M14.1	chr15	62060503	62062434	+	ENSG00000259251.2	antisense	-	-	-	-
RP11-644F5.10	chr12	55716036	55724703	+	ENSG00000258311.5	protein_coding	-	-	-	-
RP11-644F5.11	chr12	55729104	55730852	+	ENSG00000258056.2	antisense	-	-	-	-
RP11-644F5.12	chr12	55732366	55732648	-	ENSG00000257384.1	processed_pseudogene	-	-	-	-
RP11-644K8.1	chr2	20052134	20054496	+	ENSG00000223734.2	lincRNA	-	-	-	-
RP11-644N4.1	chr7	135704537	135704841	+	ENSG00000273219.1	antisense	-	-	-	-
RP11-645C24.5	chr16	21794095	21795759	-	ENSG00000260306.1	lincRNA	-	-	-	-
RP11-646D13.1	chr3	50719482	50719951	-	ENSG00000213587.3	processed_pseudogene	-	-	-	-
RP11-647K16.1	chr2	190454092	190454521	-	ENSG00000272979.1	antisense	-	-	-	-
RP11-649A18.12	chr17	75271369	75273895	+	ENSG00000263843.1	antisense	-	-	-	-
RP11-64K12.4	chr15	40368925	40369640	-	ENSG00000259368.1	antisense	-	-	-	-
RP11-64K12.8	chr15	40464193	40466726	-	ENSG00000259211.1	antisense	-	-	-	-
RP11-650J17.1	chr4	112979590	113071962	-	ENSG00000248152.1	antisense	-	-	-	-
RP11-650L12.2	chr15	78589123	78591276	-	ENSG00000261762.1	antisense	-	-	-	-
RP11-650L12.4	chr15	78537681	78538946	+	ENSG00000279373.1	TEC	-	-	-	-
RP11-651L5.2	chr12	106245613	106246956	-	ENSG00000258355.1	sense_intronic	-	-	-	-
RP11-653J6.1	chr15	66278498	66293357	-	ENSG00000261318.1	antisense	-	-	-	-
RP11-654A16.3	chr15	98954149	99105824	-	ENSG00000259475.1	antisense	-	-	-	-
RP11-655M14.12	chr11	67605521	67606642	+	ENSG00000255119.1	antisense	-	-	-	-
RP11-655M14.14	chr11	67744322	67744645	+	ENSG00000254883.1	processed_pseudogene	-	-	-	-
RP11-655M14.4	chr11	67749043	67756968	-	ENSG00000255147.1	unprocessed_pseudogene	-	-	-	-
RP11-659P15.1	chr11	58044110	58060138	-	ENSG00000255146.1	lincRNA	-	-	-	-
RP11-65D24.1	chr13	111596009	111642079	+	ENSG00000215881.3	lincRNA	-	-	-	-
RP11-65D24.2	chr13	111588201	111672608	+	ENSG00000204398.5	lincRNA	-	-	-	-
RP11-65J3.3	chr9	129430652	129451422	-	ENSG00000230676.1	lincRNA	-	-	-	-
RP11-65L3.2	chr2	178548884	178550681	+	ENSG00000270277.1	antisense	-	-	-	-
RP11-65M17.3	chr11	112393118	112621729	+	ENSG00000254968.6	lincRNA	-	-	-	-
RP11-65N13.8	chr9	125241663	125257018	+	ENSG00000239705.1	antisense	-	-	-	-
RP11-660L16.2	chr11	71448674	71452157	+	ENSG00000254682.1	antisense	-	-	-	-
RP11-660M5.1	chr4	25220403	25220913	+	ENSG00000271172.1	lincRNA	-	-	-	-
RP11-661A12.5	chr8	143541973	143549729	-	ENSG00000254859.1	antisense	-	-	-	-
RP11-661A12.8	chr8	143578358	143583304	+	ENSG00000279605.1	TEC	-	-	-	-
RP11-661A12.9	chr8	143573490	143577397	+	ENSG00000255050.1	antisense	-	-	-	-
RP11-661D19.3	chr14	102770040	102774791	-	ENSG00000259508.1	lincRNA	-	-	-	-
RP11-661G16.2	chr14	90697333	90699374	+	ENSG00000258716.1	antisense	-	-	-	-
RP11-662G23.1	chr8	90806474	90859240	-	ENSG00000254251.1	antisense	-	-	-	-
RP11-662J14.1	chr14	40386252	40386794	+	ENSG00000258418.1	lincRNA	-	-	-	-
RP11-662J14.2	chr14	40387558	40389140	+	ENSG00000258480.1	lincRNA	-	-	-	-
RP11-664H17.1	chr12	20014780	20098868	+	ENSG00000256287.1	lincRNA	-	-	-	-
RP11-664I21.6	chr11	124891304	124892126	+	ENSG00000254943.1	antisense	-	-	-	-
RP11-665C16.6	chr14	55262767	55272075	-	ENSG00000258413.1	lincRNA	-	-	-	-
RP11-665C16.8	chr14	55240622	55241080	-	ENSG00000271180.1	processed_pseudogene	-	-	-	-
RP11-665G4.1	chr4	15004942	15427914	-	ENSG00000249252.5	antisense	-	-	-	-
RP11-665J16.1	chr15	74152800	74179226	-	ENSG00000261543.1	antisense	-	-	-	-
RP11-666A20.4	chr3	125908005	125910272	-	ENSG00000248787.1	lincRNA	-	-	-	-
RP11-666A8.7	chr17	76549951	76550826	+	ENSG00000267543.1	sense_intronic	-	-	-	-
RP11-666A8.9	chr17	76569792	76571240	+	ENSG00000267078.1	antisense	-	-	-	-
RP11-666O2.4	chr16	28599241	28601881	-	ENSG00000278665.1	unprocessed_pseudogene	-	-	-	-
RP11-666O2.5	chr16	28602340	28604519	+	ENSG00000278725.1	unprocessed_pseudogene	-	-	-	-
RP11-667F14.1	chr7	116209234	116211511	-	ENSG00000279086.1	TEC	-	-	-	-
RP11-667K14.4	chr17	2042900	2043425	-	ENSG00000262533.1	antisense	-	-	-	-
RP11-667K14.8	chr17	2127430	2127904	-	ENSG00000262402.1	processed_pseudogene	-	-	-	-
RP11-669E14.4	chr17	45907670	45910779	-	ENSG00000262881.1	antisense	-	-	-	-
RP11-669E14.6	chr17	46035313	46035770	+	ENSG00000262372.1	antisense	-	-	-	-
RP11-66H6.4	chr16	11056556	11057034	+	ENSG00000274038.1	sense_intronic	-	-	-	-
RP11-671E7.1	chr10	45725694	45726038	-	ENSG00000228702.1	processed_pseudogene	-	-	-	-
RP11-671M22.4	chr15	84394512	84395514	+	ENSG00000259570.1	unprocessed_pseudogene	-	-	-	-
RP11-671P2.1	chr18	53480835	53568283	-	ENSG00000264263.1	antisense	-	-	-	-
RP11-672A2.4	chr11	76654169	76656712	-	ENSG00000254810.1	lincRNA	-	-	-	-
RP11-672L10.6	chr18	813274	813756	+	ENSG00000273355.1	lincRNA	-	-	-	-
RP11-673E1.1	chr4	143912331	143982454	+	ENSG00000251600.5	lincRNA	-	-	-	-
RP11-673E1.3	chr4	143911514	143912053	-	ENSG00000249741.2	processed_pseudogene	-	-	-	-
RP11-673E11.2	chr11	126100505	126102413	-	ENSG00000261257.1	lincRNA	-	-	-	-
RP11-674I16.2	chr2	28015777	28016482	-	ENSG00000270528.1	processed_pseudogene	-	-	-	-
RP11-675F6.4	chr8	38552248	38559020	-	ENSG00000254100.1	lincRNA	-	-	-	-
RP11-676J12.4	chr17	763565	765319	-	ENSG00000262228.2	lincRNA	-	-	-	-
RP11-676J12.7	chr17	909632	911212	+	ENSG00000262003.1	antisense	-	-	-	-
RP11-677M14.2	chr11	124744634	124746337	-	ENSG00000255045.1	antisense	-	-	-	-
RP11-677M14.3	chr11	124759129	124765936	+	ENSG00000250073.2	antisense	-	-	-	-
RP11-679B19.2	chr16	79212711	79229453	-	ENSG00000261722.1	lincRNA	-	-	-	-
RP11-67A1.2	chr16	68077340	68122271	+	ENSG00000261864.1	processed_transcript	-	-	-	-
RP11-67C2.2	chr10	45444570	45453121	-	ENSG00000231964.1	antisense	-	-	-	-
RP11-67K19.3	chr9	116568449	116586328	+	ENSG00000230894.1	antisense	-	-	-	-
RP11-67L14.1	chr2	112840328	112844195	+	ENSG00000280228.1	TEC	-	-	-	-
RP11-680A11.5	chr12	53298655	53300314	-	ENSG00000257605.2	antisense	-	-	-	-
RP11-680C21.1	chr17	11288205	11290811	+	ENSG00000264727.1	lincRNA	-	-	-	-
RP11-680F20.11	chr11	125957900	125958647	+	ENSG00000283866.1	antisense	-	-	-	-
RP11-680F20.6	chr11	125946056	125956319	+	ENSG00000283703.1	protein_coding	-	-	-	-
RP11-680F20.9	chr11	125903247	125938916	-	ENSG00000255027.2	antisense	-	-	-	-
RP11-680G24.4	chr16	14988259	14990160	-	ENSG00000261819.1	processed_pseudogene	-	-	-	-
RP11-680G24.6	chr16	15015828	15016390	-	ENSG00000275910.1	antisense	-	-	-	-
RP11-680G24.7	chr16	14953012	14953120	-	ENSG00000273804.1	unprocessed_pseudogene	-	-	-	-
RP11-685B14.1	chr8	18383274	18383917	-	ENSG00000244593.1	processed_pseudogene	-	-	-	-
RP11-685B14.3	chr8	18387108	18387777	-	ENSG00000271654.1	processed_pseudogene	-	-	-	-
RP11-685G9.2	chr15	76339609	76342063	-	ENSG00000259514.1	antisense	-	-	-	-
RP11-685N10.1	chr11	94472908	94473570	-	ENSG00000255893.1	antisense	-	-	-	-
RP11-686D22.10	chr17	35470069	35470628	-	ENSG00000267554.1	processed_pseudogene	-	-	-	-
RP11-686D22.3	chr17	35406948	35407818	-	ENSG00000267648.1	transcribed_processed_pseudogene	-	-	-	-
RP11-686D22.4	chr17	35403837	35404373	-	ENSG00000267547.1	lincRNA	-	-	-	-
RP11-686D22.7	chr17	35409602	35410228	-	ENSG00000267102.1	transcribed_processed_pseudogene	-	-	-	-
RP11-686D22.9	chr17	35477994	35478444	+	ENSG00000267349.1	antisense	-	-	-	-
RP11-686O6.1	chr2	202336739	202337200	+	ENSG00000272966.1	lincRNA	-	-	-	-
RP11-686O6.2	chr2	202374932	202375604	-	ENSG00000273456.1	lincRNA	-	-	-	-
RP11-687E1.2	chr18	42052705	42053030	+	ENSG00000276174.1	sense_intronic	-	-	-	-
RP11-687F6.5	chr18	46786699	46789297	-	ENSG00000274776.1	lincRNA	-	-	-	-
RP11-689B22.2	chr12	108628687	108641318	+	ENSG00000257221.3	antisense	-	-	-	-
RP11-689P11.2	chr4	8482270	8512610	+	ENSG00000205959.3	lincRNA	-	-	-	-
RP11-689P11.3	chr4	8453410	8454942	-	ENSG00000251186.1	antisense	-	-	-	-
RP11-68I18.10	chr1	151130075	151131610	-	ENSG00000261168.1	sense_overlapping	-	-	-	-
RP11-68I3.10	chr17	29621617	29622254	-	ENSG00000264007.1	sense_intronic	-	-	-	-
RP11-68I3.11	chr17	29644796	29645847	-	ENSG00000265625.1	sense_intronic	-	-	-	-
RP11-68I3.4	chr17	29569580	29570519	+	ENSG00000264290.1	sense_intronic	-	-	-	-
RP11-690G19.4	chr17	39238466	39250818	+	ENSG00000265460.6	transcribed_processed_pseudogene	-	-	-	-
RP11-690I21.1	chr2	231789481	231789887	-	ENSG00000237641.1	processed_pseudogene	-	-	-	-
RP11-690I21.2	chr2	231809846	231812352	+	ENSG00000261096.1	sense_overlapping	-	-	-	-
RP11-691H4.3	chr18	13362203	13366243	-	ENSG00000267393.1	antisense	-	-	-	-
RP11-693M3.1	chr18	44986109	44989203	+	ENSG00000279319.1	TEC	-	-	-	-
RP11-694I15.7	chr3	49140086	49160851	-	ENSG00000270441.1	unprocessed_pseudogene	-	-	-	-
RP11-697K23.3	chr3	45749627	45750651	+	ENSG00000279017.1	TEC	-	-	-	-
RP11-697N18.3	chr8	47511034	47512141	-	ENSG00000253330.1	processed_pseudogene	-	-	-	-
RP11-69E11.4	chr1	39522280	39546187	-	ENSG00000182109.7	antisense	-	-	-	-
RP11-69E11.8	chr1	39565160	39573203	+	ENSG00000228060.1	antisense	-	-	-	-
RP11-69G7.1	chr15	63098870	63110403	+	ENSG00000259672.1	lincRNA	-	-	-	-
RP11-69I13.1	chr8	88485110	88486094	+	ENSG00000250962.1	processed_pseudogene	-	-	-	-
RP11-69L16.4	chr6	7276031	7298872	+	ENSG00000238221.1	antisense	-	-	-	-
RP11-69L16.6	chr6	7340854	7342056	-	ENSG00000230570.1	processed_pseudogene	-	-	-	-
RP11-6J24.3	chr9	4633027	4633756	+	ENSG00000225893.1	processed_pseudogene	-	-	-	-
RP11-6L6.2	chr4	146214515	146230878	+	ENSG00000250673.2	protein_coding	-	-	-	-
RP11-6N13.1	chr5	104383298	105392970	-	ENSG00000251574.6	lincRNA	-	-	-	-
RP11-6N17.1	chr17	47863342	47865190	+	ENSG00000264243.1	lincRNA	-	-	-	-
RP11-6N17.10	chr17	47980398	47996196	-	ENSG00000264701.1	antisense	-	-	-	-
RP11-6N17.2	chr17	47879472	47882398	-	ENSG00000266821.1	lincRNA	-	-	-	-
RP11-6N17.3	chr17	47929682	47933106	-	ENSG00000266601.1	antisense	-	-	-	-
RP11-6N17.4	chr17	47891255	47895812	-	ENSG00000264920.1	processed_transcript	-	-	-	-
RP11-6N17.6	chr17	47946802	47948275	-	ENSG00000264019.1	antisense	-	-	-	-
RP11-6N17.9	chr17	47945424	47974438	+	ENSG00000263798.1	processed_transcript	-	-	-	-
RP11-6O2.2	chr15	99028538	99031053	+	ENSG00000278090.1	lincRNA	-	-	-	-
RP11-6O2.3	chr15	99139317	99145370	+	ENSG00000261616.1	antisense	-	-	-	-
RP11-6O2.4	chr15	99128832	99131806	-	ENSG00000261054.1	antisense	-	-	-	-
RP11-700H6.4	chr17	50909637	50910232	-	ENSG00000262006.1	lincRNA	-	-	-	-
RP11-700J17.2	chr4	44704405	44704965	+	ENSG00000272936.1	antisense	-	-	-	-
RP11-700N1.1	chr4	119939540	119964293	+	ENSG00000250392.2	lincRNA	-	-	-	-
RP11-701B16.2	chr14	59479274	59525437	-	ENSG00000258782.3	processed_transcript	-	-	-	-
RP11-702B10.2	chr11	128180427	128183554	+	ENSG00000273415.1	lincRNA	-	-	-	-
RP11-702F3.4	chr11	46213824	46220438	-	ENSG00000255269.2	lincRNA	-	-	-	-
RP11-703H8.7	chr11	62336911	62338090	-	ENSG00000255118.1	antisense	-	-	-	-
RP11-704M14.1	chr4	69182100	69216766	+	ENSG00000250696.5	antisense	-	-	-	-
RP11-705C15.2	chr12	9617284	9658412	+	ENSG00000256594.7	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-705C15.3	chr12	9658567	9662085	+	ENSG00000257027.1	sense_intronic	-	-	-	-
RP11-705O1.8	chr18	268148	270278	+	ENSG00000263884.1	lincRNA	-	-	-	-
RP11-706C16.7	chr8	142763116	142766427	+	ENSG00000253196.1	antisense	-	-	-	-
RP11-706C16.8	chr8	142785374	142812120	+	ENSG00000253715.1	antisense	-	-	-	-
RP11-706J10.2	chr8	76403998	76405091	+	ENSG00000270866.1	lincRNA	-	-	-	-
RP11-707A18.1	chr4	64914281	65004500	-	ENSG00000250125.1	lincRNA	-	-	-	-
RP11-707M1.1	chr11	49558546	49810419	+	ENSG00000205035.8	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-707O23.1	chr17	45592621	45593369	+	ENSG00000280022.1	TEC	-	-	-	-
RP11-707P17.2	chr15	51457286	51460582	+	ENSG00000259668.5	antisense	-	-	-	-
RP11-708J19.1	chr3	47379089	47380999	-	ENSG00000260236.1	antisense	-	-	-	-
RP11-708J19.3	chr3	47469777	47469987	+	ENSG00000276925.1	processed_pseudogene	-	-	-	-
RP11-709D24.5	chr16	4560001	4561662	-	ENSG00000261789.1	antisense	-	-	-	-
RP11-709D24.6	chr16	4634329	4640623	-	ENSG00000261442.1	antisense	-	-	-	-
RP11-709D24.8	chr16	4532216	4533670	-	ENSG00000278434.1	sense_intronic	-	-	-	-
RP11-70C1.3	chr3	42785087	42852428	-	ENSG00000235288.3	antisense	-	-	-	-
RP11-70D24.1	chr16	79675685	79677715	-	ENSG00000279378.1	TEC	-	-	-	-
RP11-70D24.2	chr16	79605802	79606605	+	ENSG00000278058.1	lincRNA	-	-	-	-
RP11-70D24.3	chr16	79603572	79604177	+	ENSG00000277214.1	lincRNA	-	-	-	-
RP11-70D24.4	chr16	79619469	79620110	+	ENSG00000275040.1	lincRNA	-	-	-	-
RP11-70F11.2	chr12	49863173	49863503	+	ENSG00000242041.1	processed_pseudogene	-	-	-	-
RP11-70J12.1	chr9	4070906	4071884	-	ENSG00000230001.1	sense_intronic	-	-	-	-
RP11-70P17.1	chr1	25581478	25590356	+	ENSG00000225643.1	lincRNA	-	-	-	-
RP11-710E1.2	chr4	87460807	87462280	-	ENSG00000272856.1	lincRNA	-	-	-	-
RP11-710F7.2	chr4	105927060	105932722	-	ENSG00000250740.1	antisense	-	-	-	-
RP11-711D18.2	chr12	121391962	121399859	+	ENSG00000258435.1	lincRNA	-	-	-	-
RP11-712B9.2	chr11	95150539	95234104	+	ENSG00000245552.6	antisense	-	-	-	-
RP11-712B9.5	chr11	95145437	95146004	+	ENSG00000270578.1	processed_pseudogene	-	-	-	-
RP11-712L6.7	chr11	126292922	126294254	-	ENSG00000254905.1	antisense	-	-	-	-
RP11-715H19.2	chr12	63151065	63154006	+	ENSG00000279444.1	TEC	-	-	-	-
RP11-715J22.3	chr16	2452581	2452977	-	ENSG00000260095.1	antisense	-	-	-	-
RP11-715J22.4	chr16	2456252	2459979	-	ENSG00000260874.5	lincRNA	-	-	-	-
RP11-715J22.6	chr16	2476558	2482173	+	ENSG00000260293.2	sense_intronic	-	-	-	-
RP11-716H6.2	chr11	122295190	122308019	+	ENSG00000255219.1	antisense	-	-	-	-
RP11-717D12.1	chr3	47601715	47604677	-	ENSG00000214773.1	sense_intronic	-	-	-	-
RP11-719K4.7	chr16	14862380	14862749	-	ENSG00000270734.1	processed_pseudogene	-	-	-	-
RP11-71E19.1	chr3	126266796	126291279	+	ENSG00000250934.1	lincRNA	-	-	-	-
RP11-71E19.2	chr3	126288867	126294024	-	ENSG00000251448.1	lincRNA	-	-	-	-
RP11-71H17.7	chr3	124723788	124726325	+	ENSG00000260391.2	sense_overlapping	-	-	-	-
RP11-71L14.3	chr16	68367325	68370262	-	ENSG00000279693.1	TEC	-	-	-	-
RP11-71L14.4	chr16	68450283	68452318	+	ENSG00000274698.1	lincRNA	-	-	-	-
RP11-720N19.1	chr17	27526386	27527223	-	ENSG00000263368.1	processed_pseudogene	-	-	-	-
RP11-722E23.2	chr8	33360839	33361415	-	ENSG00000272338.2	lincRNA	-	-	-	-
RP11-723O4.2	chr3	128861313	128871540	-	ENSG00000231305.3	antisense	-	-	-	-
RP11-723O4.6	chr3	128909874	128971330	-	ENSG00000187695.8	protein_coding	-	-	-	-
RP11-723O4.7	chr3	128914833	128915060	-	ENSG00000279507.1	TEC	-	-	-	-
RP11-723O4.9	chr3	128859716	128860526	-	ENSG00000261159.1	lincRNA	-	-	-	-
RP11-724N1.1	chr10	102914585	102915404	+	ENSG00000272912.1	lincRNA	-	-	-	-
RP11-726G1.1	chr12	9467552	9576275	+	ENSG00000214776.10	protein_coding	-	-	-	-
RP11-727A23.10	chr11	83286128	83423516	+	ENSG00000255234.5	antisense	-	-	-	-
RP11-727A23.7	chr11	83209431	83213379	-	ENSG00000254551.1	antisense	-	-	-	-
RP11-728G15.1	chr12	120629611	120641591	-	ENSG00000256008.2	antisense	-	-	-	-
RP11-72I8.1	chr16	15094411	15109197	+	ENSG00000260735.1	antisense	-	-	-	-
RP11-72L22.1	chr5	86967321	87137712	+	ENSG00000249061.1	lincRNA	-	-	-	-
RP11-730A19.9	chr10	13139196	13139533	-	ENSG00000234175.1	processed_pseudogene	-	-	-	-
RP11-731C17.2	chr3	136837338	136839021	-	ENSG00000273486.1	antisense	-	-	-	-
RP11-731D1.1	chr4	151259503	151262849	+	ENSG00000249012.2	unprocessed_pseudogene	-	-	-	-
RP11-731D1.4	chr4	151333775	151353224	-	ENSG00000270265.1	lincRNA	-	-	-	-
RP11-731F5.2	chr14	105647924	105649057	-	ENSG00000253364.2	lincRNA	-	-	-	-
RP11-732A21.2	chr11	102107886	102109842	+	ENSG00000260008.1	lincRNA	-	-	-	-
RP11-732A21.3	chr11	102109827	102110457	-	ENSG00000277459.1	lincRNA	-	-	-	-
RP11-734C14.2	chr11	57870322	57870571	-	ENSG00000255266.1	processed_pseudogene	-	-	-	-
RP11-734K21.2	chr2	9103440	9105114	+	ENSG00000242136.1	processed_transcript	-	-	-	-
RP11-734K23.9	chr2	97281904	97291780	+	ENSG00000277701.4	lincRNA	-	-	-	-
RP11-736N17.10	chr14	103208100	103208876	+	ENSG00000278071.1	lincRNA	-	-	-	-
RP11-736N17.8	chr14	103094723	103098885	+	ENSG00000259444.1	sense_overlapping	-	-	-	-
RP11-737O24.5	chr18	2920966	2921685	+	ENSG00000272625.1	antisense	-	-	-	-
RP11-738E22.3	chr4	56960927	56961373	-	ENSG00000269949.1	lincRNA	-	-	-	-
RP11-738O11.13	chr11	55867569	55874537	-	ENSG00000254547.1	unprocessed_pseudogene	-	-	-	-
RP11-739L10.1	chr18	22699481	22933764	-	ENSG00000265943.1	antisense	-	-	-	-
RP11-73E17.2	chr14	34874343	34876459	+	ENSG00000258738.1	antisense	-	-	-	-
RP11-73G16.1	chr4	151955991	151969381	+	ENSG00000251249.1	processed_transcript	-	-	-	-
RP11-73G16.2	chr4	151919468	151943933	+	ENSG00000248991.1	lincRNA	-	-	-	-
RP11-73K9.2	chr4	112229561	112231596	-	ENSG00000260526.1	antisense	-	-	-	-
RP11-73M18.11	chr14	103762803	103763277	+	ENSG00000270591.1	transcribed_processed_pseudogene	-	-	-	-
RP11-73M18.2	chr14	103562962	103685924	+	ENSG00000256500.5	protein_coding	-	-	-	-
RP11-73M18.6	chr14	103687576	103688127	+	ENSG00000270108.1	sense_intronic	-	-	-	-
RP11-73M18.7	chr14	103694560	103695170	+	ENSG00000269940.1	sense_intronic	-	-	-	-
RP11-73M18.8	chr14	103696353	103697163	+	ENSG00000269958.1	sense_intronic	-	-	-	-
RP11-73M7.1	chr1	31571585	31575573	-	ENSG00000229167.1	antisense	-	-	-	-
RP11-73M7.6	chr1	31644049	31660162	+	ENSG00000235790.7	antisense	-	-	-	-
RP11-73M7.9	chr1	31644694	31649371	+	ENSG00000264078.1	antisense	-	-	-	-
RP11-73O6.3	chr6	130133410	130146179	-	ENSG00000227678.7	antisense	-	-	-	-
RP11-741G21.1	chr15	77278465	77278774	+	ENSG00000230459.3	processed_pseudogene	-	-	-	-
RP11-742B18.1	chr4	87568035	87733956	-	ENSG00000249001.5	antisense	-	-	-	-
RP11-742D12.2	chr18	46756487	46764408	+	ENSG00000270112.3	processed_transcript	-	-	-	-
RP11-744N12.3	chr11	128629653	128686922	-	ENSG00000245008.3	antisense	-	-	-	-
RP11-747H12.7	chr4	9020857	9021161	-	ENSG00000271057.1	processed_pseudogene	-	-	-	-
RP11-747H7.1	chr14	91709111	91710617	+	ENSG00000258962.2	processed_pseudogene	-	-	-	-
RP11-747H7.3	chr14	91752856	91759798	-	ENSG00000260711.2	sense_intronic	-	-	-	-
RP11-748H22.1	chr11	101584295	101595156	+	ENSG00000254506.1	transcribed_processed_pseudogene	-	-	-	-
RP11-749H17.1	chr18	45483345	45529855	+	ENSG00000266988.5	sense_intronic	-	-	-	-
RP11-749I16.3	chr17	40113215	40115442	-	ENSG00000279199.1	TEC	-	-	-	-
RP11-74E22.5	chr17	2683305	2685088	-	ENSG00000272770.1	antisense	-	-	-	-
RP11-74E22.6	chr17	2688473	2688960	+	ENSG00000272911.1	lincRNA	-	-	-	-
RP11-74K11.2	chr12	94168006	94186044	-	ENSG00000258035.1	antisense	-	-	-	-
RP11-74M11.2	chr4	11740948	11769468	-	ENSG00000248300.1	lincRNA	-	-	-	-
RP11-74M13.4	chr12	56822985	56874268	+	ENSG00000258679.1	transcribed_processed_pseudogene	-	-	-	-
RP11-74M13.6	chr12	56840973	56841273	-	ENSG00000273536.1	processed_pseudogene	-	-	-	-
RP11-750H9.5	chr11	47383148	47409190	-	ENSG00000255197.5	antisense	-	-	-	-
RP11-752D24.2	chr4	52945649	52958087	+	ENSG00000248115.1	antisense	-	-	-	-
RP11-752G15.4	chr15	82691723	82692358	-	ENSG00000259707.1	processed_pseudogene	-	-	-	-
RP11-752G15.8	chr15	82744223	82750289	+	ENSG00000259442.1	antisense	-	-	-	-
RP11-752L20.3	chr4	147487971	147496062	+	ENSG00000280219.1	TEC	-	-	-	-
RP11-752L20.5	chr4	147567606	147594587	+	ENSG00000251688.1	lincRNA	-	-	-	-
RP11-753B14.1	chr6	142251847	142259632	-	ENSG00000237494.1	lincRNA	-	-	-	-
RP11-753N8.1	chr12	90280894	90300340	+	ENSG00000258183.5	lincRNA	-	-	-	-
RP11-754B17.1	chr11	665910	678391	+	ENSG00000255158.1	antisense	-	-	-	-
RP11-755B10.3	chr3	57693205	57696596	+	ENSG00000241933.1	lincRNA	-	-	-	-
RP11-755F10.1	chr11	66244840	66246239	-	ENSG00000255320.1	antisense	-	-	-	-
RP11-755F10.3	chr11	66259567	66261834	-	ENSG00000254461.1	antisense	-	-	-	-
RP11-755O11.2	chr12	101646720	101659970	-	ENSG00000257514.5	antisense	-	-	-	-
RP11-757F18.5	chr3	112133423	112135359	+	ENSG00000261488.1	antisense	-	-	-	-
RP11-757G1.5	chr11	68941503	68942852	-	ENSG00000255741.1	antisense	-	-	-	-
RP11-757G1.6	chr11	68870664	68874542	+	ENSG00000250508.1	lincRNA	-	-	-	-
RP11-758H9.2	chr17	59618553	59619714	-	ENSG00000273702.1	lincRNA	-	-	-	-
RP11-758P17.3	chr7	100436204	100438504	+	ENSG00000240211.1	antisense	-	-	-	-
RP11-75C10.6	chr17	77444704	77447167	+	ENSG00000279801.1	TEC	-	-	-	-
RP11-75L1.1	chr12	9704077	9709350	+	ENSG00000256582.1	lincRNA	-	-	-	-
RP11-760H22.2	chr8	120052180	120056201	+	ENSG00000254343.2	lincRNA	-	-	-	-
RP11-761I4.4	chr15	81303215	81309391	-	ENSG00000271725.1	3prime_overlapping_ncRNA	-	-	-	-
RP11-762B21.5	chr11	123135923	123136376	-	ENSG00000255342.1	processed_pseudogene	-	-	-	-
RP11-762H8.1	chr15	78293286	78296049	+	ENSG00000259322.1	antisense	-	-	-	-
RP11-762H8.2	chr15	78290527	78291221	-	ENSG00000259562.2	transcribed_processed_pseudogene	-	-	-	-
RP11-762H8.3	chr15	78250502	78264156	-	ENSG00000259708.1	antisense	-	-	-	-
RP11-762I7.4	chr12	55761550	55762628	-	ENSG00000257509.1	sense_intronic	-	-	-	-
RP11-763B22.3	chr1	144418678	144419190	+	ENSG00000233586.1	processed_pseudogene	-	-	-	-
RP11-764I5.1	chr3	141258418	141258779	+	ENSG00000241400.1	processed_pseudogene	-	-	-	-
RP11-766F14.2	chr4	99636529	99654648	-	ENSG00000248713.1	protein_coding	-	-	-	-
RP11-766N7.3	chr12	64883394	64977522	+	ENSG00000255693.1	lincRNA	-	-	-	-
RP11-767C1.2	chr3	12832219	12832728	-	ENSG00000272263.1	antisense	-	-	-	-
RP11-767N6.2	chr1	45651039	45651826	-	ENSG00000234329.1	processed_pseudogene	-	-	-	-
RP11-767N6.7	chr1	45694684	45697075	-	ENSG00000230896.1	sense_intronic	-	-	-	-
RP11-768F21.1	chr12	119387987	119668079	-	ENSG00000248636.6	lincRNA	-	-	-	-
RP11-76P2.4	chr10	94314907	94315327	-	ENSG00000273450.1	antisense	-	-	-	-
RP11-770E5.1	chr8	48551567	48698510	+	ENSG00000253608.1	antisense	-	-	-	-
RP11-770G2.2	chr11	65745729	65771585	+	ENSG00000255557.1	lincRNA	-	-	-	-
RP11-773H22.4	chr18	12984694	12991173	-	ENSG00000266969.1	antisense	-	-	-	-
RP11-775B15.2	chr8	119419910	119462350	-	ENSG00000253398.1	antisense	-	-	-	-
RP11-775B15.3	chr8	119480279	119480775	-	ENSG00000254037.2	processed_pseudogene	-	-	-	-
RP11-775C24.3	chr15	80990804	80993258	-	ENSG00000260619.1	lincRNA	-	-	-	-
RP11-775C24.4	chr15	81060953	81063488	+	ENSG00000279834.1	TEC	-	-	-	-
RP11-775D22.2	chr7	130141731	130142615	+	ENSG00000229196.3	antisense	-	-	-	-
RP11-775H9.2	chr4	136118675	136395471	-	ENSG00000251567.5	lincRNA	-	-	-	-
RP11-778D9.12	chr3	184134019	184135238	-	ENSG00000272721.5	antisense	-	-	-	-
RP11-778D9.13	chr3	184132942	184133561	-	ENSG00000273181.1	lincRNA	-	-	-	-
RP11-778H2.1	chr12	24223271	24237965	+	ENSG00000256120.1	lincRNA	-	-	-	-
RP11-778O17.4	chr11	120249759	120265932	-	ENSG00000259541.5	antisense	-	-	-	-
RP11-779O18.1	chr5	172758226	172762556	+	ENSG00000253295.1	antisense	-	-	-	-
RP11-779O18.2	chr5	172762521	172763258	-	ENSG00000213386.3	processed_pseudogene	-	-	-	-
RP11-779O18.3	chr5	172762980	172777774	+	ENSG00000253736.1	antisense	-	-	-	-
RP11-779P15.2	chr3	99507187	99527113	-	ENSG00000243089.1	lincRNA	-	-	-	-
RP11-77H9.1	chr16	8881634	8885351	+	ENSG00000283516.1	protein_coding	-	-	-	-
RP11-77H9.8	chr16	8962706	8966990	+	ENSG00000260979.1	lincRNA	-	-	-	-
RP11-77I22.2	chr12	30755074	30780739	+	ENSG00000246331.2	lincRNA	-	-	-	-
RP11-77K12.3	chr16	75458252	75460017	-	ENSG00000261476.1	sense_intronic	-	-	-	-
RP11-77K12.4	chr16	75475896	75495407	+	ENSG00000203472.3	antisense	-	-	-	-
RP11-77K12.5	chr16	75499788	75516280	-	ENSG00000262583.1	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-77K12.8	chr16	75541399	75608445	-	ENSG00000259992.1	processed_transcript	-	-	-	-
RP11-77K12.9	chr16	75433836	75436392	+	ENSG00000274220.1	lincRNA	-	-	-	-
RP11-77O7.1	chr2	69594741	69595058	-	ENSG00000232228.1	processed_pseudogene	-	-	-	-
RP11-780M14.1	chr4	143760399	143762093	-	ENSG00000250345.2	processed_pseudogene	-	-	-	-
RP11-783K16.13	chr11	64246939	64249494	-	ENSG00000257086.1	lincRNA	-	-	-	-
RP11-783K16.14	chr11	64229214	64234352	-	ENSG00000256116.1	antisense	-	-	-	-
RP11-783K16.5	chr11	64245964	64248217	+	ENSG00000256940.1	antisense	-	-	-	-
RP11-787D18.2	chr8	61264624	61292039	-	ENSG00000254222.1	antisense	-	-	-	-
RP11-787I22.3	chr6	108998482	108999125	+	ENSG00000271730.1	antisense	-	-	-	-
RP11-788M5.3	chr11	101208905	101209450	+	ENSG00000255504.2	transcribed_processed_pseudogene	-	-	-	-
RP11-789L4.1	chr3	141307612	141307933	-	ENSG00000249540.1	processed_pseudogene	-	-	-	-
RP11-78I14.1	chr2	36513255	36513732	-	ENSG00000273090.1	antisense	-	-	-	-
RP11-78O7.2	chr17	19896590	19897287	-	ENSG00000270091.1	lincRNA	-	-	-	-
RP11-791G15.2	chr2	10767875	10770058	-	ENSG00000272275.1	lincRNA	-	-	-	-
RP11-792A8.3	chr7	66748838	66749077	-	ENSG00000271064.1	processed_pseudogene	-	-	-	-
RP11-792A8.4	chr7	66739829	66740385	-	ENSG00000272831.1	antisense	-	-	-	-
RP11-793H13.11	chr12	53500162	53500936	-	ENSG00000270175.1	antisense	-	-	-	-
RP11-793I11.1	chr11	47905323	47905607	-	ENSG00000254780.1	processed_pseudogene	-	-	-	-
RP11-794G24.1	chr11	61539516	61542259	-	ENSG00000256443.1	lincRNA	-	-	-	-
RP11-794M8.1	chr18	13203774	13216367	-	ENSG00000267239.1	antisense	-	-	-	-
RP11-794M8.2	chr18	13183402	13185617	-	ENSG00000267286.1	lincRNA	-	-	-	-
RP11-795F19.5	chr18	80034346	80097088	+	ENSG00000267127.7	protein_coding	-	-	-	-
RP11-795H16.3	chr18	60125033	60161195	+	ENSG00000267686.1	lincRNA	-	-	-	-
RP11-796E2.4	chr12	92145573	92189660	+	ENSG00000245904.3	antisense	-	-	-	-
RP11-796G6.1	chr14	101677943	101678380	+	ENSG00000241494.1	processed_pseudogene	-	-	-	-
RP11-797A18.3	chr15	77043680	77045160	+	ENSG00000259652.1	lincRNA	-	-	-	-
RP11-797A18.5	chr15	77063397	77064910	-	ENSG00000278991.1	TEC	-	-	-	-
RP11-797A18.6	chr15	77067654	77068325	-	ENSG00000269951.1	sense_intronic	-	-	-	-
RP11-797D24.3	chr3	123277353	123277904	+	ENSG00000273454.1	lincRNA	-	-	-	-
RP11-797D24.4	chr3	123283593	123283983	+	ENSG00000272678.1	antisense	-	-	-	-
RP11-797H7.5	chr7	64888527	64890100	-	ENSG00000189316.3	antisense	-	-	-	-
RP11-797M17.1	chr12	107093298	107123314	+	ENSG00000257548.1	antisense	-	-	-	-
RP11-798G7.4	chr17	45553710	45559070	-	ENSG00000266504.1	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-798G7.5	chr17	45533963	45534710	+	ENSG00000131484.4	lincRNA	-	-	-	-
RP11-798G7.6	chr17	45545804	45563230	+	ENSG00000267198.1	lincRNA	-	-	-	-
RP11-798G7.7	chr17	45549781	45558738	-	ENSG00000267246.1	processed_transcript	-	-	-	-
RP11-798G7.8	chr17	45531577	45533838	+	ENSG00000266918.1	TEC	-	-	-	-
RP11-798K23.5	chr5	179527224	179527513	-	ENSG00000253520.1	processed_pseudogene	-	-	-	-
RP11-798K3.2	chr15	66984108	67065268	-	ENSG00000259347.6	antisense	-	-	-	-
RP11-799M12.2	chr4	15563698	15564253	-	ENSG00000273133.1	antisense	-	-	-	-
RP11-79C6.3	chr5	35938822	35939993	+	ENSG00000249748.1	antisense	-	-	-	-
RP11-79N23.1	chr6	53740749	53747022	-	ENSG00000227885.1	lincRNA	-	-	-	-
RP11-79O8.1	chr2	19902025	19902569	+	ENSG00000271991.1	lincRNA	-	-	-	-
RP11-7F17.3	chr14	77069180	77076344	-	ENSG00000258819.1	lincRNA	-	-	-	-
RP11-7F17.5	chr14	77041064	77069503	+	ENSG00000246548.3	lincRNA	-	-	-	-
RP11-7I15.3	chr11	78015715	78016495	+	ENSG00000254829.1	antisense	-	-	-	-
RP11-7K24.3	chr6	42092233	42094259	-	ENSG00000261068.2	lincRNA	-	-	-	-
RP11-7M10.2	chr15	84753122	84754502	+	ENSG00000259415.1	sense_intronic	-	-	-	-
RP11-7O11.3	chr1	43944370	43946551	-	ENSG00000237950.1	antisense	-	-	-	-
RP11-800A3.2	chr11	73214998	73215913	-	ENSG00000215841.3	antisense	-	-	-	-
RP11-802D6.1	chr17	29369717	29390777	-	ENSG00000264808.1	antisense	-	-	-	-
RP11-802E16.3	chr11	68050740	68053762	+	ENSG00000255031.5	antisense	-	-	-	-
RP11-802O23.3	chr3	58428255	58428815	+	ENSG00000272182.1	antisense	-	-	-	-
RP11-803D5.1	chr2	111321433	111324812	-	ENSG00000279191.1	TEC	-	-	-	-
RP11-805J14.5	chr11	70206291	70207390	-	ENSG00000254721.1	antisense	-	-	-	-
RP11-806H10.4	chr17	78360453	78373911	+	ENSG00000266970.1	lincRNA	-	-	-	-
RP11-806K15.1	chr4	175790307	175812189	+	ENSG00000249106.1	antisense	-	-	-	-
RP11-809N8.4	chr11	73405297	73410682	+	ENSG00000256448.5	antisense	-	-	-	-
RP11-809O17.1	chr8	141126044	141129961	-	ENSG00000253210.1	antisense	-	-	-	-
RP11-80A15.1	chr14	24501594	24508688	+	ENSG00000258744.1	antisense	-	-	-	-
RP11-80H18.4	chr3	58329965	58330118	+	ENSG00000273493.1	lincRNA	-	-	-	-
RP11-80H5.2	chr10	89645282	89650667	+	ENSG00000232936.5	antisense	-	-	-	-
RP11-80H5.6	chr10	89646289	89650822	-	ENSG00000225836.1	lincRNA	-	-	-	-
RP11-80H5.7	chr10	89694295	89697928	-	ENSG00000240996.1	lincRNA	-	-	-	-
RP11-80H5.9	chr10	89667181	89699671	-	ENSG00000235100.3	lincRNA	-	-	-	-
RP11-80H8.4	chr3	143123362	143131893	+	ENSG00000241679.2	processed_transcript	-	-	-	-
RP11-80I15.1	chr9	95123521	95123868	+	ENSG00000223849.1	processed_pseudogene	-	-	-	-
RP11-80I15.4	chr9	95113708	95114461	+	ENSG00000229065.1	antisense	-	-	-	-
RP11-80P20.3	chr3	138482065	138485755	+	ENSG00000280399.1	TEC	-	-	-	-
RP11-810M2.2	chr17	4163910	4164713	+	ENSG00000263165.1	antisense	-	-	-	-
RP11-810P12.7	chr11	61967794	61969490	+	ENSG00000279491.1	TEC	-	-	-	-
RP11-812I20.2	chr6	47562622	47563018	+	ENSG00000216813.1	processed_pseudogene	-	-	-	-
RP11-813F20.2	chr18	49739823	49742063	-	ENSG00000267674.1	lincRNA	-	-	-	-
RP11-814H16.2	chr4	41988741	41989237	-	ENSG00000272862.1	lincRNA	-	-	-	-
RP11-815I22.1	chr3	38270283	38270767	-	ENSG00000237982.1	processed_pseudogene	-	-	-	-
RP11-815I9.4	chr17	18667629	18669461	-	ENSG00000264885.1	sense_intronic	-	-	-	-
RP11-815J21.2	chr15	85579046	85580178	-	ENSG00000259375.1	antisense	-	-	-	-
RP11-815J21.3	chr15	85621264	85627689	-	ENSG00000259276.1	antisense	-	-	-	-
RP11-815J21.4	chr15	85619623	85670948	-	ENSG00000259367.1	antisense	-	-	-	-
RP11-816J6.3	chr3	169769649	169772043	+	ENSG00000269889.1	antisense	-	-	-	-
RP11-817I4.1	chr12	32339368	32340724	+	ENSG00000274964.1	sense_intronic	-	-	-	-
RP11-817J15.3	chr11	102681310	102683913	+	ENSG00000281655.1	lincRNA	-	-	-	-
RP11-817O13.8	chr15	75368155	75369584	+	ENSG00000260274.1	lincRNA	-	-	-	-
RP11-819C21.1	chr11	107312132	107316271	-	ENSG00000261098.1	lincRNA	-	-	-	-
RP11-81A1.6	chr15	79920195	79922455	-	ENSG00000278600.1	sense_intronic	-	-	-	-
RP11-81K2.1	chr17	49370740	49476988	+	ENSG00000262039.1	antisense	-	-	-	-
RP11-820I16.3	chr18	11993988	11994938	-	ENSG00000266955.1	antisense	-	-	-	-
RP11-822E23.6	chr17	21566569	21574517	-	ENSG00000266050.2	transcribed_processed_pseudogene	-	-	-	-
RP11-823E8.3	chr12	89351015	89353271	+	ENSG00000274021.1	lincRNA	-	-	-	-
RP11-826N14.1	chr5	176040744	176042878	+	ENSG00000250992.1	antisense	-	-	-	-
RP11-826N14.2	chr5	176049678	176062021	-	ENSG00000248469.1	antisense	-	-	-	-
RP11-82K18.2	chr1	88923370	88923844	+	ENSG00000235308.1	processed_pseudogene	-	-	-	-
RP11-82O19.2	chr17	29775747	29776701	-	ENSG00000265713.1	transcribed_processed_pseudogene	-	-	-	-
RP11-830F9.5	chr16	88881038	88887136	+	ENSG00000259881.1	antisense	-	-	-	-
RP11-830F9.6	chr16	88939789	88951524	+	ENSG00000205018.2	antisense	-	-	-	-
RP11-830F9.7	chr16	88936779	88939651	-	ENSG00000261226.1	sense_intronic	-	-	-	-
RP11-832A4.7	chr11	118264593	118266817	+	ENSG00000280032.1	TEC	-	-	-	-
RP11-834C11.11	chr12	54145069	54147225	-	ENSG00000260470.1	lincRNA	-	-	-	-
RP11-834C11.15	chr12	54142591	54147485	+	ENSG00000283073.1	lincRNA	-	-	-	-
RP11-834C11.4	chr12	54126098	54142493	+	ENSG00000250742.2	lincRNA	-	-	-	-
RP11-834C11.7	chr12	54076838	54081903	-	ENSG00000250654.7	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-834C11.8	chr12	54163139	54168595	+	ENSG00000248576.1	antisense	-	-	-	-
RP11-83M16.3	chr5	67690033	67690437	-	ENSG00000250669.1	processed_pseudogene	-	-	-	-
RP11-83M16.4	chr5	67692812	67693200	-	ENSG00000249721.1	processed_pseudogene	-	-	-	-
RP11-83M16.5	chr5	67632266	67646789	-	ENSG00000249736.1	lincRNA	-	-	-	-
RP11-83N9.6	chr9	136122521	136124363	+	ENSG00000275329.1	lincRNA	-	-	-	-
RP11-840I19.3	chr14	65082034	65094212	+	ENSG00000259118.5	antisense	-	-	-	-
RP11-840I19.5	chr14	65003325	65003767	-	ENSG00000272158.1	antisense	-	-	-	-
RP11-844P9.2	chr5	176143450	176156989	-	ENSG00000283559.1	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-847H18.2	chr12	34022281	34046417	-	ENSG00000245482.2	antisense	-	-	-	-
RP11-847H18.3	chr12	34037438	34056740	+	ENSG00000256538.1	lincRNA	-	-	-	-
RP11-848P1.2	chr17	30971652	30973312	+	ENSG00000264456.1	sense_intronic	-	-	-	-
RP11-848P1.4	chr17	30978610	30980250	-	ENSG00000266340.1	antisense	-	-	-	-
RP11-848P1.5	chr17	31090787	31095450	-	ENSG00000264107.1	antisense	-	-	-	-
RP11-848P1.7	chr17	31008154	31008319	-	ENSG00000264148.1	processed_pseudogene	-	-	-	-
RP11-848P1.9	chr17	31008497	31093127	+	ENSG00000266865.6	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-849F2.4	chr17	8337697	8338758	+	ENSG00000266279.1	lincRNA	-	-	-	-
RP11-849F2.5	chr17	8365563	8381328	+	ENSG00000265749.5	antisense	-	-	-	-
RP11-849F2.9	chr17	8277763	8278436	+	ENSG00000269947.1	lincRNA	-	-	-	-
RP11-849H4.2	chr11	71865509	71928654	-	ENSG00000254469.7	protein_coding	-	-	-	-
RP11-849H4.4	chr11	72014291	72020910	+	ENSG00000251143.1	antisense	-	-	-	-
RP11-84A14.4	chr1	9942923	9949974	+	ENSG00000228150.1	sense_intronic	-	-	-	-
RP11-84A19.4	chr1	31851913	31921841	-	ENSG00000269967.1	lincRNA	-	-	-	-
RP11-84C13.2	chr4	89119284	89119871	+	ENSG00000270720.1	lincRNA	-	-	-	-
RP11-84D1.1	chr1	24961345	24963097	+	ENSG00000229162.1	antisense	-	-	-	-
RP11-84D1.2	chr1	24968423	24970865	-	ENSG00000261025.1	lincRNA	-	-	-	-
RP11-84G21.1	chr12	79934901	79942712	+	ENSG00000257557.2	antisense	-	-	-	-
RP11-850A17.1	chr18	54268346	54270028	-	ENSG00000277324.1	antisense	-	-	-	-
RP11-855A2.1	chr17	67955314	67957291	+	ENSG00000279573.1	TEC	-	-	-	-
RP11-855A2.2	chr17	67973934	67976072	+	ENSG00000279880.1	TEC	-	-	-	-
RP11-85A1.3	chr10	99621055	99621918	+	ENSG00000260475.1	lincRNA	-	-	-	-
RP11-85G18.6	chr10	27243130	27250804	+	ENSG00000262412.1	lincRNA	-	-	-	-
RP11-85G20.1	chr14	93223598	93224139	-	ENSG00000240096.1	processed_pseudogene	-	-	-	-
RP11-85I17.2	chr8	119838736	119840385	-	ENSG00000279347.1	TEC	-	-	-	-
RP11-85K15.3	chr14	35086035	35088059	+	ENSG00000279434.1	TEC	-	-	-	-
RP11-860B13.1	chr12	27779821	27781067	-	ENSG00000256747.1	antisense	-	-	-	-
RP11-861E21.2	chr18	12438890	12448205	+	ENSG00000267199.1	antisense	-	-	-	-
RP11-861E21.3	chr18	12450447	12451042	+	ENSG00000267515.1	processed_pseudogene	-	-	-	-
RP11-862G15.2	chr14	92905697	92907482	-	ENSG00000258499.1	lincRNA	-	-	-	-
RP11-863K10.7	chr8	37734761	37737426	-	ENSG00000183154.1	antisense	-	-	-	-
RP11-864J10.2	chr12	107719599	107720133	+	ENSG00000240441.1	processed_pseudogene	-	-	-	-
RP11-864J10.4	chr12	107736555	107759968	+	ENSG00000258136.1	antisense	-	-	-	-
RP11-864N7.4	chr11	74698231	74699658	-	ENSG00000279353.1	TEC	-	-	-	-
RP11-866E20.3	chr18	60010281	60014258	+	ENSG00000267462.1	lincRNA	-	-	-	-
RP11-867G23.1	chr11	66264777	66265666	-	ENSG00000254855.1	antisense	-	-	-	-
RP11-867G23.10	chr11	66409158	66417137	+	ENSG00000254510.1	processed_transcript	-	-	-	-
RP11-867G23.13	chr11	66312853	66319237	+	ENSG00000254458.1	antisense	-	-	-	-
RP11-867G23.2	chr11	66267635	66268129	-	ENSG00000254762.1	antisense	-	-	-	-
RP11-867G23.3	chr11	66269832	66278525	-	ENSG00000245156.1	lincRNA	-	-	-	-
RP11-867G23.4	chr11	66276779	66277492	-	ENSG00000254452.1	antisense	-	-	-	-
RP11-867G23.8	chr11	66347950	66364804	+	ENSG00000255468.6	antisense	-	-	-	-
RP11-86K22.1	chr15	57979716	57980646	-	ENSG00000259477.1	processed_pseudogene	-	-	-	-
RP11-873E20.1	chr18	35716370	35717978	+	ENSG00000267397.1	lincRNA	-	-	-	-
RP11-874J12.4	chr18	3653410	3656282	+	ENSG00000266401.1	antisense	-	-	-	-
RP11-875O11.1	chr8	22984596	23019335	-	ENSG00000245025.2	antisense	-	-	-	-
RP11-875O11.3	chr8	23071377	23074488	-	ENSG00000253616.5	antisense	-	-	-	-
RP11-876N24.4	chr16	10940719	10943021	+	ENSG00000262222.1	antisense	-	-	-	-
RP11-876N24.5	chr16	10938886	10940044	-	ENSG00000263013.1	sense_intronic	-	-	-	-
RP11-879F14.2	chr18	61585746	61606916	-	ENSG00000267279.1	lincRNA	-	-	-	-
RP11-884K10.6	chr3	53797764	53798019	-	ENSG00000271916.1	antisense	-	-	-	-
RP11-884K10.7	chr3	53858994	53861576	-	ENSG00000271976.1	antisense	-	-	-	-
RP11-887P2.5	chr12	93707791	93737823	-	ENSG00000258274.1	antisense	-	-	-	-
RP11-887P2.6	chr12	93836167	93838038	+	ENSG00000258303.1	sense_intronic	-	-	-	-
RP11-888D10.3	chr18	9315194	9334441	-	ENSG00000264964.1	lincRNA	-	-	-	-
RP11-890B15.2	chr11	130844191	130865561	-	ENSG00000254842.6	lincRNA	-	-	-	-
RP11-890B15.3	chr11	130866254	130870247	-	ENSG00000255455.2	lincRNA	-	-	-	-
RP11-894J14.2	chr3	52848085	52848553	-	ENSG00000279144.1	TEC	-	-	-	-
RP11-894J14.5	chr3	52969119	53099453	-	ENSG00000272305.5	protein_coding	-	-	-	-
RP11-894P9.1	chr14	103682362	103684015	-	ENSG00000246451.2	antisense	-	-	-	-
RP11-894P9.2	chr14	103553421	103561877	+	ENSG00000258851.1	antisense	-	-	-	-
RP11-895M11.2	chr14	91419449	91419751	+	ENSG00000258446.1	processed_pseudogene	-	-	-	-
RP11-899L11.1	chr16	87212122	87226430	+	ENSG00000261095.1	lincRNA	-	-	-	-
RP11-899L11.3	chr16	87215915	87216452	+	ENSG00000261651.1	antisense	-	-	-	-
RP11-89C3.2	chr11	111107060	111107750	-	ENSG00000270202.1	processed_pseudogene	-	-	-	-
RP11-89C3.3	chr11	111089870	111090368	-	ENSG00000271390.1	lincRNA	-	-	-	-
RP11-89C3.4	chr11	111091932	111179641	-	ENSG00000271584.2	lincRNA	-	-	-	-
RP11-89H19.2	chr12	47905122	47906865	+	ENSG00000278385.1	lincRNA	-	-	-	-
RP11-89K10.1	chr8	126557875	126713415	+	ENSG00000254286.5	antisense	-	-	-	-
RP11-89N17.1	chr7	33725981	33728456	+	ENSG00000173862.3	lincRNA	-	-	-	-
RP11-89N17.4	chr7	33793168	33803156	-	ENSG00000236494.1	lincRNA	-	-	-	-
RP11-8H2.1	chr18	46028306	46029829	+	ENSG00000267293.1	processed_pseudogene	-	-	-	-
RP11-8P13.5	chr12	32820142	32820567	-	ENSG00000274976.1	sense_intronic	-	-	-	-
RP11-900F13.3	chr12	88580531	88598218	+	ENSG00000281333.1	antisense	-	-	-	-
RP11-90C4.1	chr1	55581037	55868248	+	ENSG00000234810.2	lincRNA	-	-	-	-
RP11-90K17.2	chr11	85916502	85923682	-	ENSG00000255005.1	antisense	-	-	-	-
RP11-90K6.1	chr3	112302478	112332791	+	ENSG00000239482.6	lincRNA	-	-	-	-
RP11-90O23.1	chr1	203656969	203657760	-	ENSG00000236035.2	processed_pseudogene	-	-	-	-
RP11-90P13.1	chr7	161765	164972	-	ENSG00000261795.1	lincRNA	-	-	-	-
RP11-90P5.5	chr8	38123274	38124651	+	ENSG00000240015.2	antisense	-	-	-	-
RP11-91I20.1	chr8	60660820	60664530	+	ENSG00000255289.1	lincRNA	-	-	-	-
RP11-91I20.2	chr8	60652502	60653561	-	ENSG00000254869.1	lincRNA	-	-	-	-
RP11-91I20.3	chr8	60631509	60636271	-	ENSG00000228862.3	lincRNA	-	-	-	-
RP11-91I8.3	chr18	6728821	6729862	-	ENSG00000266441.1	antisense	-	-	-	-
RP11-91P24.1	chr11	77868722	77869195	-	ENSG00000241782.1	processed_pseudogene	-	-	-	-
RP11-91P24.3	chr11	77914990	77915275	-	ENSG00000255115.2	processed_pseudogene	-	-	-	-
RP11-91P24.5	chr11	77850604	77851511	+	ENSG00000254691.1	antisense	-	-	-	-
RP11-91P24.6	chr11	77866412	77870091	-	ENSG00000255449.1	antisense	-	-	-	-
RP11-91P24.7	chr11	77829654	77872262	-	ENSG00000254459.1	antisense	-	-	-	-
RP11-927P21.2	chr17	64899766	64900716	+	ENSG00000266644.1	antisense	-	-	-	-
RP11-927P21.4	chr17	64778842	64778937	-	ENSG00000265982.1	unprocessed_pseudogene	-	-	-	-
RP11-92C4.6	chr9	98943337	98943775	-	ENSG00000270412.1	antisense	-	-	-	-
RP11-92G12.3	chr1	200669507	200694250	+	ENSG00000260088.1	lincRNA	-	-	-	-
RP11-930O11.2	chr14	56303490	56310761	-	ENSG00000259483.1	lincRNA	-	-	-	-
RP11-930P14.1	chr8	41660991	41665566	+	ENSG00000253389.2	antisense	-	-	-	-
RP11-930P14.2	chr8	41828165	41829934	-	ENSG00000260588.1	lincRNA	-	-	-	-
RP11-932O9.10	chr15	30648797	30649529	+	ENSG00000269974.1	lincRNA	-	-	-	-
RP11-932O9.7	chr15	30616998	30625773	-	ENSG00000247728.2	antisense	-	-	-	-
RP11-932O9.9	chr15	30616958	30617749	+	ENSG00000269930.1	lincRNA	-	-	-	-
RP11-936I5.1	chr17	77373818	77377236	-	ENSG00000266998.1	antisense	-	-	-	-
RP11-93B14.4	chr20	62732566	62735347	-	ENSG00000223669.1	antisense	-	-	-	-
RP11-946L16.1	chr12	29143196	29148675	-	ENSG00000257258.1	lincRNA	-	-	-	-
RP11-94C24.13	chr17	50475819	50478391	+	ENSG00000275897.1	lincRNA	-	-	-	-
RP11-94C24.6	chr17	50503412	50508328	-	ENSG00000249451.1	lincRNA	-	-	-	-
RP11-94H18.1	chr8	29815004	29854543	-	ENSG00000248964.6	lincRNA	-	-	-	-
RP11-950C14.10	chr14	75011269	75012851	-	ENSG00000279594.1	TEC	-	-	-	-
RP11-950C14.3	chr14	75004719	75008481	-	ENSG00000258646.1	antisense	-	-	-	-
RP11-950C14.7	chr14	75127153	75136930	+	ENSG00000259138.1	antisense	-	-	-	-
RP11-958N24.1	chr16	14911551	14935708	+	ENSG00000183458.13	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-95D17.1	chr2	9936360	9939590	+	ENSG00000269973.1	lincRNA	-	-	-	-
RP11-95I16.4	chr10	120879256	120880667	-	ENSG00000271670.1	antisense	-	-	-	-
RP11-95M15.1	chr6	137673378	137763984	+	ENSG00000230533.2	lincRNA	-	-	-	-
RP11-95P13.2	chr1	219557192	219557701	+	ENSG00000238232.1	lincRNA	-	-	-	-
RP11-960D24.1	chr11	28679183	28683469	+	ENSG00000248990.1	lincRNA	-	-	-	-
RP11-961A15.3	chr17	1684726	1685151	+	ENSG00000277597.1	antisense	-	-	-	-
RP11-964E11.2	chr14	36647083	36658801	-	ENSG00000258661.1	antisense	-	-	-	-
RP11-967K21.1	chr12	28163298	28190738	-	ENSG00000247934.4	antisense	-	-	-	-
RP11-968O1.5	chr12	109111218	109125594	+	ENSG00000256139.2	sense_overlapping	-	-	-	-
RP11-96A1.5	chr4	120035033	120040615	-	ENSG00000253825.1	lincRNA	-	-	-	-
RP11-96B2.1	chr8	122485515	122489815	-	ENSG00000255325.2	lincRNA	-	-	-	-
RP11-96C23.11	chr10	87001636	87009905	+	ENSG00000261011.1	transcribed_unprocessed_pseudogene	-	-	-	-
RP11-96C23.12	chr10	87027184	87027477	+	ENSG00000271573.1	processed_pseudogene	-	-	-	-
RP11-96D1.10	chr16	68224713	68227734	+	ENSG00000263276.1	sense_overlapping	-	-	-	-
RP11-96D1.3	chr16	68316801	68319036	+	ENSG00000259797.1	sense_intronic	-	-	-	-
RP11-96D1.5	chr16	68212401	68221671	-	ENSG00000260891.1	antisense	-	-	-	-
RP11-96D1.7	chr16	68256162	68260443	-	ENSG00000260441.5	antisense	-	-	-	-
RP11-96D1.8	chr16	68290087	68292790	-	ENSG00000279649.1	TEC	-	-	-	-
RP11-96H19.1	chr12	46383679	46876159	+	ENSG00000257261.5	lincRNA	-	-	-	-
RP11-96K19.4	chr1	110936369	110942353	-	ENSG00000261654.1	sense_overlapping	-	-	-	-
RP11-96L14.7	chr1	26169516	26171821	-	ENSG00000236782.6	protein_coding	-	-	-	-
RP11-96L14.8	chr1	26164161	26168581	-	ENSG00000282872.1	protein_coding	-	-	-	-
RP11-96L14.9	chr1	26046665	26049099	+	ENSG00000284309.1	bidirectional_promoter_lncRNA	-	-	-	-
RP11-972P1.10	chr12	123515275	123515513	-	ENSG00000274427.1	sense_intronic	-	-	-	-
RP11-972P1.11	chr12	123519390	123519856	-	ENSG00000278112.1	sense_intronic	-	-	-	-
RP11-973D8.4	chr12	55966838	55967474	-	ENSG00000258554.1	antisense	-	-	-	-
RP11-973H7.1	chr18	12774651	12775923	-	ENSG00000260302.1	lincRNA	-	-	-	-
RP11-973H7.3	chr18	12670426	12671145	-	ENSG00000267249.1	sense_intronic	-	-	-	-
RP11-973N13.4	chr14	64514154	64540368	-	ENSG00000259116.1	antisense	-	-	-	-
RP11-973N13.5	chr14	64535702	64535879	-	ENSG00000259160.1	processed_pseudogene	-	-	-	-
RP11-977B10.2	chr12	49232790	49264756	-	ENSG00000258101.2	antisense	-	-	-	-
RP11-977G19.11	chr12	56300142	56314808	+	ENSG00000257303.1	antisense	-	-	-	-
RP11-977G19.12	chr12	56308868	56309449	+	ENSG00000257740.1	antisense	-	-	-	-
RP11-977G19.14	chr12	56267793	56270104	-	ENSG00000258260.1	antisense	-	-	-	-
RP11-97C16.1	chr3	3152942	3153435	+	ENSG00000271870.1	antisense	-	-	-	-
RP11-981G7.1	chr8	10433672	10438312	+	ENSG00000261451.1	sense_overlapping	-	-	-	-
RP11-981G7.3	chr8	10477491	10479375	-	ENSG00000253678.1	lincRNA	-	-	-	-
RP11-981G7.6	chr8	10486807	10489666	+	ENSG00000272505.1	lincRNA	-	-	-	-
RP11-981P6.1	chr12	89561129	89594878	+	ENSG00000258302.2	antisense	-	-	-	-
RP11-982M15.2	chr14	104769349	104770271	+	ENSG00000258430.1	antisense	-	-	-	-
RP11-982M15.8	chr14	104661120	104665558	-	ENSG00000260792.1	lincRNA	-	-	-	-
RP11-983P16.4	chr12	53014596	53054438	-	ENSG00000257337.6	antisense	-	-	-	-
RP11-98D18.15	chr1	151755541	151759911	+	ENSG00000269621.1	antisense	-	-	-	-
RP11-98D18.17	chr1	151798054	151798602	+	ENSG00000269489.1	lincRNA	-	-	-	-
RP11-98D18.3	chr1	151763384	151769501	-	ENSG00000249602.1	antisense	-	-	-	-
RP11-98D18.7	chr1	151757659	151758442	+	ENSG00000236940.1	processed_pseudogene	-	-	-	-
RP11-98F14.12	chr13	113149432	113154002	-	ENSG00000283828.1	antisense	-	-	-	-
RP11-98I9.4	chr6	99424922	99431373	+	ENSG00000228506.1	antisense	-	-	-	-
RP11-98J23.2	chr5	69875271	69920867	+	ENSG00000198237.8	unprocessed_pseudogene	-	-	-	-
RP11-98L12.2	chr14	76013679	76014143	+	ENSG00000258578.2	processed_pseudogene	-	-	-	-
RP11-993B23.3	chr12	27958517	27969813	+	ENSG00000257042.1	antisense	-	-	-	-
RP11-995C19.2	chr17	46503946	46509339	+	ENSG00000266497.1	unprocessed_pseudogene	-	-	-	-
RP11-996F15.2	chr12	29280418	29317848	-	ENSG00000257176.2	antisense	-	-	-	-
RP11-996F15.4	chr12	29277397	29277882	-	ENSG00000275476.1	antisense	-	-	-	-
RP11-996F15.5	chr12	29331434	29331936	-	ENSG00000274315.1	antisense	-	-	-	-
RP11-996F15.6	chr12	29332733	29333383	-	ENSG00000273680.1	antisense	-	-	-	-
RP11-99A1.2	chr18	54879457	54880809	+	ENSG00000267311.1	lincRNA	-	-	-	-
RP11-9G1.3	chr4	133075311	133149116	-	ENSG00000250241.5	lincRNA	-	-	-	-
RP13-1032I1.7	chr17	81701324	81703300	-	ENSG00000262049.1	antisense	-	-	-	-
RP13-104F24.3	chr17	64750420	64751311	+	ENSG00000265298.1	unprocessed_pseudogene	-	-	-	-
RP13-1056D16.2	chr3	49775285	49775614	+	ENSG00000244730.1	processed_pseudogene	-	-	-	-
RP13-131K19.2	chr3	48985049	48989988	-	ENSG00000223343.1	antisense	-	-	-	-
RP13-131K19.6	chr3	49029316	49029706	+	ENSG00000272434.1	antisense	-	-	-	-
RP13-20L14.6	chr17	82454273	82458521	-	ENSG00000265458.1	antisense	-	-	-	-
RP13-225O21.2	chr9	127213783	127221907	-	ENSG00000228487.2	antisense	-	-	-	-
RP13-254B10.1	chr7	65840212	65840596	+	ENSG00000236529.1	processed_pseudogene	-	-	-	-
RP13-262C2.3	chr15	84171178	84173194	-	ENSG00000259694.1	lincRNA	-	-	-	-
RP13-270P17.2	chr18	3190397	3247277	+	ENSG00000265399.1	antisense	-	-	-	-
RP13-317D12.3	chr11	462930	463899	-	ENSG00000255237.1	antisense	-	-	-	-
RP13-392I16.1	chr1	9501092	9503471	-	ENSG00000235263.1	lincRNA	-	-	-	-
RP13-39P12.3	chr10	77782866	77793176	+	ENSG00000228748.2	antisense	-	-	-	-
RP13-401N8.1	chr20	25751218	25752761	+	ENSG00000226465.1	antisense	-	-	-	-
RP13-436F16.1	chr1	2632568	2636620	+	ENSG00000237058.1	antisense	-	-	-	-
RP13-452N2.1	chr7	151806490	151810820	+	ENSG00000242048.3	processed_transcript	-	-	-	-
RP13-467H17.1	chr8	142403652	142407028	+	ENSG00000261693.1	antisense	-	-	-	-
RP13-476E20.1	chr6	53790875	53794274	-	ENSG00000228614.1	antisense	-	-	-	-
RP13-487P22.1	chr15	25345633	25347235	-	ENSG00000261529.1	sense_intronic	-	-	-	-
RP13-514E23.2	chr4	86000327	86000766	-	ENSG00000273389.1	antisense	-	-	-	-
RP13-516M14.10	chr17	82244770	82245591	+	ENSG00000275888.1	antisense	-	-	-	-
RP13-516M14.2	chr17	82214227	82217352	+	ENSG00000264548.1	antisense	-	-	-	-
RP13-516M14.8	chr17	82249067	82251844	+	ENSG00000280407.2	TEC	-	-	-	-
RP13-539F13.2	chr4	144920713	144921164	-	ENSG00000251452.2	processed_pseudogene	-	-	-	-
RP13-554M15.2	chr12	132565071	132566425	+	ENSG00000279700.1	TEC	-	-	-	-
RP13-554M15.7	chr12	132550729	132554947	+	ENSG00000280287.1	TEC	-	-	-	-
RP13-577H12.2	chr4	174977571	174979381	-	ENSG00000250431.1	antisense	-	-	-	-
RP13-578N3.3	chr4	143700257	143865072	+	ENSG00000246448.2	antisense	-	-	-	-
RP13-580F15.2	chr17	4481966	4486353	-	ENSG00000262823.1	antisense	-	-	-	-
RP13-582O9.7	chr8	143290399	143290621	-	ENSG00000272172.1	antisense	-	-	-	-
RP13-608F4.5	chr15	82472203	82472426	+	ENSG00000278603.1	unprocessed_pseudogene	-	-	-	-
RP13-638C3.2	chr17	82578023	82578616	+	ENSG00000262652.1	sense_intronic	-	-	-	-
RP13-638C3.6	chr17	82576616	82577391	-	ENSG00000265136.1	processed_pseudogene	-	-	-	-
RP13-644M16.5	chr4	69066395	69069888	+	ENSG00000248763.2	unprocessed_pseudogene	-	-	-	-
RP13-650J16.1	chr17	82037905	82039380	+	ENSG00000264569.1	antisense	-	-	-	-
RP13-672B3.5	chr12	132745156	132745729	+	ENSG00000256108.1	processed_pseudogene	-	-	-	-
RP13-685P2.7	chr3	129345411	129346164	+	ENSG00000270773.1	processed_pseudogene	-	-	-	-
RP13-685P2.8	chr3	129334586	129335074	+	ENSG00000270492.1	processed_pseudogene	-	-	-	-
RP13-735L24.1	chr12	9367464	9397617	+	ENSG00000260423.1	lincRNA	-	-	-	-
RP13-753N3.1	chr17	30863921	30864940	-	ENSG00000263531.1	antisense	-	-	-	-
RP13-766D20.2	chr17	81514047	81527776	+	ENSG00000229848.1	antisense	-	-	-	-
RP13-820C6.2	chr12	132077803	132080460	-	ENSG00000257000.1	antisense	-	-	-	-
RP13-870H17.3	chr11	1049880	1055749	+	ENSG00000254872.3	lincRNA	-	-	-	-
RP13-890H12.2	chr17	45168800	45171584	-	ENSG00000267288.2	antisense	-	-	-	-
RP13-895J2.3	chr12	132277349	132280900	+	ENSG00000256542.2	antisense	-	-	-	-
RP13-895J2.7	chr12	132329850	132331575	+	ENSG00000255916.1	antisense	-	-	-	-
RP13-923O23.6	chr8	81791823	81815714	+	ENSG00000253334.1	antisense	-	-	-	-
RP13-93L13.1	chr9	89472237	89472692	+	ENSG00000225460.1	processed_pseudogene	-	-	-	-
RP13-941N14.1	chr12	121580792	121593504	+	ENSG00000256742.1	lincRNA	-	-	-	-
RP13-942N8.1	chr12	123363868	123366113	+	ENSG00000256092.2	lincRNA	-	-	-	-
RP13-968A2.1	chr7	99252452	99325826	-	ENSG00000284523.1	antisense	-	-	-	-
RP13-977J11.2	chr12	132186735	132189695	-	ENSG00000256576.2	lincRNA	-	-	-	-
RP13-977J11.5	chr12	132126461	132126764	-	ENSG00000256804.1	processed_pseudogene	-	-	-	-
RP13-977J11.8	chr12	132190213	132190997	+	ENSG00000256312.1	lincRNA	-	-	-	-
RP1L1	chr8	10606349	10712187	-	ENSG00000183638.5	protein_coding	DCDC4B|OCMD|RP88	8p23.1	RP1 like 1	This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [provided by RefSeq, Sep 2010]
RP3-329A5.1	chr6	35279177	35279819	-	ENSG00000217004.1	unprocessed_pseudogene	-	-	-	-
RP3-329A5.8	chr6	35220370	35224630	-	ENSG00000272374.1	lincRNA	-	-	-	-
RP3-329E20.2	chr1	21266082	21267251	+	ENSG00000236936.1	antisense	-	-	-	-
RP3-330M21.5	chr6	43213801	43223860	-	ENSG00000245261.1	antisense	-	-	-	-
RP3-331H24.7	chr6	71373253	71375387	-	ENSG00000279312.1	TEC	-	-	-	-
RP3-332B22.1	chr6	140067435	140093721	+	ENSG00000236013.5	lincRNA	-	-	-	-
RP3-333A15.1	chr1	70947379	70951493	+	ENSG00000235782.1	antisense	-	-	-	-
RP3-333H23.8	chr22	39292988	39295563	+	ENSG00000224794.1	antisense	-	-	-	-
RP3-333H23.9	chr22	39379610	39380015	+	ENSG00000280216.1	TEC	-	-	-	-
RP3-337H4.10	chr6	43561872	43562419	+	ENSG00000271970.1	antisense	-	-	-	-
RP3-337H4.8	chr6	43588230	43591362	-	ENSG00000203362.2	antisense	-	-	-	-
RP3-337O18.9	chr20	45892694	45893419	-	ENSG00000271984.1	antisense	-	-	-	-
RP3-340B19.2	chr6	35555873	35556264	+	ENSG00000219023.1	processed_pseudogene	-	-	-	-
RP3-340B19.3	chr6	35544632	35545669	+	ENSG00000228559.1	lincRNA	-	-	-	-
RP3-340B19.5	chr6	35607628	35607934	+	ENSG00000218749.1	processed_pseudogene	-	-	-	-
RP3-340N1.2	chr1	20154338	20160568	+	ENSG00000227066.1	lincRNA	-	-	-	-
RP3-342P20.2	chr1	39962680	39963404	+	ENSG00000228477.1	processed_pseudogene	-	-	-	-
RP3-343K2.4	chr20	37165774	37166312	-	ENSG00000236159.1	processed_pseudogene	-	-	-	-
RP3-348I23.2	chr6	20756103	20800694	-	ENSG00000233848.1	antisense	-	-	-	-
RP3-354N19.3	chr6	119269133	119269714	-	ENSG00000216316.1	processed_pseudogene	-	-	-	-
RP3-355L5.3	chr6	105298149	105298895	+	ENSG00000216639.1	processed_pseudogene	-	-	-	-
RP3-366N23.4	chr6	167347472	167348053	+	ENSG00000217447.1	processed_pseudogene	-	-	-	-
RP3-370M22.8	chr22	39960397	39964718	+	ENSG00000225528.3	protein_coding	-	-	-	-
RP3-375P9.2	chr6	34744176	34744673	+	ENSG00000217130.1	processed_pseudogene	-	-	-	-
RP3-388E23.2	chr6	135301568	135307158	+	ENSG00000234084.1	antisense	-	-	-	-
RP3-388N13.3	chr8	93834454	93846743	-	ENSG00000254057.1	lincRNA	-	-	-	-
RP3-391O22.3	chr6	34576258	34576656	-	ENSG00000196114.3	processed_pseudogene	-	-	-	-
RP3-393E18.2	chr6	159586955	159589169	-	ENSG00000237927.1	lincRNA	-	-	-	-
RP3-394A18.1	chr22	29978950	30028236	-	ENSG00000279159.1	antisense	-	-	-	-
RP3-395C13.1	chr6	157372556	157373171	-	ENSG00000218631.1	processed_pseudogene	-	-	-	-
RP3-395M20.12	chr1	2546465	2547460	+	ENSG00000272449.1	lincRNA	-	-	-	-
RP3-395M20.7	chr1	2566410	2569888	+	ENSG00000225931.3	TEC	-	-	-	-
RP3-395M20.8	chr1	2549920	2557031	-	ENSG00000238164.6	antisense	-	-	-	-
RP3-395M20.9	chr1	2581560	2584533	+	ENSG00000228037.1	lincRNA	-	-	-	-
RP3-395P12.2	chr1	173174300	173175503	-	ENSG00000226375.1	lincRNA	-	-	-	-
RP3-400B16.1	chr6	4136072	4157385	+	ENSG00000234817.2	lincRNA	-	-	-	-
RP3-402G11.25	chr22	50191724	50192402	-	ENSG00000273188.1	antisense	-	-	-	-
RP3-402G11.26	chr22	50199090	50200837	-	ENSG00000273253.2	antisense	-	-	-	-
RP3-402G11.27	chr22	50205585	50206062	-	ENSG00000272836.1	antisense	-	-	-	-
RP3-402G11.28	chr22	50208461	50209542	-	ENSG00000273137.1	antisense	-	-	-	-
RP3-405J10.3	chr12	50185580	50191363	-	ENSG00000257298.1	sense_intronic	-	-	-	-
RP3-405J10.4	chr12	50219604	50229984	+	ENSG00000257256.1	antisense	-	-	-	-
RP3-407E4.4	chr6	63440766	63443580	+	ENSG00000218048.2	unprocessed_pseudogene	-	-	-	-
RP3-408N23.4	chr22	40788777	40789267	-	ENSG00000230769.1	processed_pseudogene	-	-	-	-
RP3-410C9.2	chr20	26188408	26196891	+	ENSG00000238129.5	lincRNA	-	-	-	-
RP3-412A9.16	chr22	31082156	31083565	-	ENSG00000273387.1	antisense	-	-	-	-
RP3-414A15.2	chr14	73522878	73530610	+	ENSG00000258695.2	antisense	-	-	-	-
RP3-415N12.1	chr6	111494991	111495713	-	ENSG00000220506.2	processed_pseudogene	-	-	-	-
RP3-424M6.4	chr12	110501614	110503441	+	ENSG00000278993.1	TEC	-	-	-	-
RP3-425C14.4	chr6	122436789	122439223	-	ENSG00000279453.1	TEC	-	-	-	-
RP3-425C14.5	chr6	122471923	122484161	+	ENSG00000279114.1	TEC	-	-	-	-
RP3-425C14.6	chr6	122454358	122454612	+	ENSG00000275339.1	processed_pseudogene	-	-	-	-
RP3-425P12.2	chr6	25061625	25063507	-	ENSG00000230372.1	lincRNA	-	-	-	-
RP3-425P12.4	chr6	25140003	25141403	+	ENSG00000219682.4	processed_pseudogene	-	-	-	-
RP3-426I6.6	chr1	27819983	27820341	+	ENSG00000270031.1	sense_intronic	-	-	-	-
RP3-428L16.2	chr6	160990318	160992342	-	ENSG00000272841.1	antisense	-	-	-	-
RP3-436N22.3	chr1	173555251	173612772	+	ENSG00000238272.1	antisense	-	-	-	-
RP3-441A12.1	chr6	37815777	37819218	-	ENSG00000225945.1	antisense	-	-	-	-
RP3-449M8.6	chr14	74474007	74474864	-	ENSG00000259005.1	lincRNA	-	-	-	-
RP3-449M8.9	chr14	74471930	74472360	-	ENSG00000270000.1	lincRNA	-	-	-	-
RP3-449O17.1	chr22	38335762	38398929	-	ENSG00000244627.5	transcribed_unprocessed_pseudogene	-	-	-	-
RP3-454B23.1	chr12	6155035	6160719	-	ENSG00000255775.1	lincRNA	-	-	-	-
RP3-454G6.2	chr1	171600621	171638799	+	ENSG00000283683.1	protein_coding	-	-	-	-
RP3-465N24.5	chr1	25266102	25267136	-	ENSG00000261349.1	unprocessed_pseudogene	-	-	-	-
RP3-465N24.6	chr1	25247837	25248321	+	ENSG00000272432.1	lincRNA	-	-	-	-
RP3-466P17.1	chr6	145735570	145737218	+	ENSG00000270638.1	lincRNA	-	-	-	-
RP3-466P17.3	chr6	145789270	145791973	-	ENSG00000280184.2	TEC	-	-	-	-
RP3-467D16.3	chr6	16259101	16264553	-	ENSG00000282024.1	antisense	-	-	-	-
RP3-467L1.6	chr1	7776383	7776775	+	ENSG00000269925.1	sense_intronic	-	-	-	-
RP3-467N11.1	chr6	100881471	100882987	+	ENSG00000260000.2	antisense	-	-	-	-
RP3-468O1.6	chr20	34476205	34476787	+	ENSG00000277558.1	sense_intronic	-	-	-	-
RP3-470L22.1	chr6	6758276	6759291	-	ENSG00000224532.2	lincRNA	-	-	-	-
RP3-473L9.4	chr12	111369282	111403310	+	ENSG00000257595.2	lincRNA	-	-	-	-
RP3-475N16.1	chr6	42940364	42948360	+	ENSG00000231113.2	antisense	-	-	-	-
RP3-476K8.3	chr1	26462756	26467282	-	ENSG00000225891.1	antisense	-	-	-	-
RP3-476K8.4	chr1	26454653	26455187	-	ENSG00000223583.1	processed_pseudogene	-	-	-	-
RP3-477J10.1	chr22	47115838	47117217	-	ENSG00000278881.2	TEC	-	-	-	-
RP3-477M7.5	chr1	8907393	8907744	-	ENSG00000232208.2	processed_pseudogene	-	-	-	-
RP3-477O4.14	chr20	35476203	35490982	-	ENSG00000230155.6	antisense	-	-	-	-
RP3-477O4.5	chr20	35520852	35528255	-	ENSG00000242507.6	transcribed_unprocessed_pseudogene	-	-	-	-
RP3-483K16.4	chr6	53350158	53350705	+	ENSG00000271367.1	lincRNA	-	-	-	-
RP3-486I3.4	chr6	116258493	116259115	-	ENSG00000233558.1	processed_pseudogene	-	-	-	-
RP3-486I3.5	chr6	116244187	116244728	-	ENSG00000236326.1	antisense	-	-	-	-
RP3-486I3.7	chr6	116254207	116256743	+	ENSG00000237021.2	lincRNA	-	-	-	-
RP3-495K2.2	chr6	169034197	169035642	-	ENSG00000229720.1	lincRNA	-	-	-	-
RP3-495K2.3	chr6	168962610	168964341	-	ENSG00000225879.1	lincRNA	-	-	-	-
RP3-496C20.1	chr22	40043068	40044530	-	ENSG00000261202.1	antisense	-	-	-	-
RP3-503A6.2	chr6	38714051	38715217	-	ENSG00000236355.2	lincRNA	-	-	-	-
RP3-508I15.10	chr22	38666508	38668750	-	ENSG00000230912.1	antisense	-	-	-	-
RP3-508I15.14	chr22	38739003	38749041	+	ENSG00000225450.1	antisense	-	-	-	-
RP3-508I15.19	chr22	38734730	38738990	+	ENSG00000230149.2	antisense	-	-	-	-
RP3-508I15.20	chr22	38736610	38736792	-	ENSG00000273096.1	sense_intronic	-	-	-	-
RP3-508I15.21	chr22	38742625	38743115	+	ENSG00000272669.1	antisense	-	-	-	-
RP3-508I15.22	chr22	38743495	38743910	+	ENSG00000273076.1	antisense	-	-	-	-
RP3-508I15.9	chr22	38667585	38681820	-	ENSG00000228274.3	antisense	-	-	-	-
RP3-510D11.4	chr1	9197143	9198906	-	ENSG00000281937.1	lincRNA	-	-	-	-
RP3-510H16.3	chr22	35298838	35299541	-	ENSG00000273176.1	antisense	-	-	-	-
RP3-510O8.4	chr6	35733867	35736947	-	ENSG00000232909.1	antisense	-	-	-	-
RP3-512B11.3	chr6	7540451	7541338	-	ENSG00000261189.1	antisense	-	-	-	-
RP3-522D1.1	chr1	112850028	112877871	+	ENSG00000224167.1	lincRNA	-	-	-	-
RP3-522J7.5	chr22	49817248	49817712	+	ENSG00000236867.1	processed_pseudogene	-	-	-	-
RP3-522J7.6	chr22	49832616	49837786	-	ENSG00000260613.1	lincRNA	-	-	-	-
RP3-522J7.7	chr22	49805452	49807208	+	ENSG00000279345.1	antisense	-	-	-	-
RP3-522P13.3	chr6	25245356	25261411	-	ENSG00000235733.2	antisense	-	-	-	-
RP3-523C21.2	chr6	132085084	132099279	+	ENSG00000236166.1	lincRNA	-	-	-	-
RP3-523E19.2	chr6	53918974	53920788	-	ENSG00000271218.1	antisense	-	-	-	-
RP3-523K23.2	chr6	54943167	54945099	+	ENSG00000261116.1	sense_overlapping	-	-	-	-
RP4-530I15.6	chr20	50645471	50662275	+	ENSG00000234693.1	antisense	-	-	-	-
RP4-530I15.9	chr20	50570975	50578041	-	ENSG00000232043.1	antisense	-	-	-	-
RP4-533D7.4	chr1	46046818	46048368	+	ENSG00000226957.1	antisense	-	-	-	-
RP4-533D7.5	chr1	46134531	46139081	+	ENSG00000227857.2	antisense	-	-	-	-
RP4-535B20.1	chr1	65066627	65067737	-	ENSG00000231485.1	lincRNA	-	-	-	-
RP4-535B20.4	chr1	65003470	65004087	-	ENSG00000272506.1	lincRNA	-	-	-	-
RP4-547N15.3	chr1	67121605	67123956	-	ENSG00000275678.1	sense_intronic	-	-	-	-
RP4-550H1.4	chr20	36072441	36085260	+	ENSG00000234139.2	lincRNA	-	-	-	-
RP4-550H1.5	chr20	36086252	36088192	-	ENSG00000237063.1	lincRNA	-	-	-	-
RP4-550H1.7	chr20	36064243	36064563	-	ENSG00000277235.1	lincRNA	-	-	-	-
RP4-555D20.1	chr3	44115818	44117487	-	ENSG00000280435.1	TEC	-	-	-	-
RP4-555D20.2	chr3	44117299	44122365	+	ENSG00000261786.1	lincRNA	-	-	-	-
RP4-555D20.3	chr3	43996896	43997443	+	ENSG00000271192.1	lincRNA	-	-	-	-
RP4-555D20.4	chr3	43998081	43999149	-	ENSG00000272121.1	lincRNA	-	-	-	-
RP4-560B9.4	chr1	171762074	171762524	+	ENSG00000236741.4	processed_pseudogene	-	-	-	-
RP4-563E14.1	chr20	62928621	62929297	-	ENSG00000273759.1	lincRNA	-	-	-	-
RP4-564F22.5	chr20	38406011	38416797	-	ENSG00000224635.1	lincRNA	-	-	-	-
RP4-568B10.1	chr7	106035798	106036431	+	ENSG00000280439.1	TEC	-	-	-	-
RP4-575N6.2	chr1	101256274	101256616	+	ENSG00000228399.1	processed_pseudogene	-	-	-	-
RP4-575N6.4	chr1	101235683	101236528	-	ENSG00000225938.1	antisense	-	-	-	-
RP4-575N6.5	chr1	101243158	101243749	+	ENSG00000260940.1	sense_overlapping	-	-	-	-
RP4-583K8.1	chr20	52451464	52455619	-	ENSG00000225785.1	lincRNA	-	-	-	-
RP4-583P15.16	chr20	63730072	63730377	-	ENSG00000274501.1	antisense	-	-	-	-
RP4-584D14.6	chr7	150379854	150383885	-	ENSG00000239377.1	antisense	-	-	-	-
RP4-591B8.2	chr1	114459934	114460360	+	ENSG00000226984.1	processed_pseudogene	-	-	-	-
RP4-591C20.9	chr20	63861212	63864293	-	ENSG00000268858.2	antisense	-	-	-	-
RP4-591N18.2	chr22	40521800	40526707	+	ENSG00000232564.3	antisense	-	-	-	-
RP4-593H12.1	chr7	107579557	107580057	-	ENSG00000272854.1	antisense	-	-	-	-
RP4-593M8.1	chr1	92580476	92580821	-	ENSG00000223787.2	processed_pseudogene	-	-	-	-
RP4-597N16.4	chr1	235104180	235104609	-	ENSG00000273416.1	lincRNA	-	-	-	-
RP4-604G5.3	chr7	99992397	99993050	+	ENSG00000235713.1	unprocessed_pseudogene	-	-	-	-
RP4-605O3.4	chr12	50112197	50165618	+	ENSG00000272368.2	antisense	-	-	-	-
RP4-607I7.1	chr11	35132655	35138032	-	ENSG00000255521.1	antisense	-	-	-	-
RP4-607J2.1	chr7	2393847	2394131	-	ENSG00000271163.1	processed_pseudogene	-	-	-	-
RP4-612B15.3	chr1	86703502	86704462	-	ENSG00000261737.1	antisense	-	-	-	-
RP4-612B18.3	chr1	171803517	171803939	+	ENSG00000213060.4	processed_pseudogene	-	-	-	-
RP4-612C19.1	chr1	93190740	93191060	-	ENSG00000237003.1	processed_pseudogene	-	-	-	-
RP4-613B23.1	chr3	42601963	42654388	-	ENSG00000230084.5	antisense	-	-	-	-
RP4-614O4.11	chr20	35267885	35280043	-	ENSG00000261582.1	protein_coding	-	-	-	-
RP4-614O4.13	chr20	35262727	35264187	-	ENSG00000279253.1	TEC	-	-	-	-
RP4-621B10.8	chr1	92189237	92190707	+	ENSG00000273487.1	lincRNA	-	-	-	-
RP4-622L5.7	chr1	32204769	32206814	-	ENSG00000224066.1	antisense	-	-	-	-
RP4-625H18.2	chr6	19324988	19839080	-	ENSG00000228412.7	antisense	-	-	-	-
RP4-630A11.3	chr1	65486406	65494188	+	ENSG00000237852.1	sense_intronic	-	-	-	-
RP4-631H13.6	chr1	52920422	52920596	+	ENSG00000230953.2	processed_pseudogene	-	-	-	-
RP4-633I8.3	chr1	8798475	8799506	+	ENSG00000226545.1	unprocessed_pseudogene	-	-	-	-
RP4-633I8.4	chr1	8805860	8807051	-	ENSG00000228423.2	lincRNA	-	-	-	-
RP4-633O19__A.1	chr22	36388626	36396517	+	ENSG00000223695.1	lincRNA	-	-	-	-
RP4-635A23.4	chr1	185280844	185281816	+	ENSG00000238061.2	processed_pseudogene	-	-	-	-
RP4-635A23.6	chr1	185292384	185294372	-	ENSG00000279838.1	TEC	-	-	-	-
RP4-635E18.6	chr1	11099675	11102100	+	ENSG00000230337.1	antisense	-	-	-	-
RP4-635E18.7	chr1	11068471	11073097	+	ENSG00000226849.1	antisense	-	-	-	-
RP4-635E18.8	chr1	11029659	11030528	+	ENSG00000271895.2	antisense	-	-	-	-
RP4-641G12.3	chr1	78666272	78666695	+	ENSG00000238015.2	processed_pseudogene	-	-	-	-
RP4-644L1.2	chr20	40696499	40698616	-	ENSG00000229771.2	lincRNA	-	-	-	-
RP4-647C14.2	chr14	73242651	73245979	-	ENSG00000258376.2	antisense	-	-	-	-
RP4-647C14.3	chr14	73272182	73274081	-	ENSG00000258944.1	antisense	-	-	-	-
RP4-647J21.1	chr7	44958999	44960909	-	ENSG00000260997.1	sense_overlapping	-	-	-	-
RP4-650F12.2	chr1	74468195	74469543	+	ENSG00000233894.1	antisense	-	-	-	-
RP4-654C18.1	chr1	23410832	23412146	+	ENSG00000232482.2	processed_pseudogene	-	-	-	-
RP4-657D16.3	chr1	51793934	51799154	+	ENSG00000266993.3	antisense	-	-	-	-
RP4-657D16.6	chr1	51801028	51801307	+	ENSG00000272175.1	antisense	-	-	-	-
RP4-657E11.10	chr1	19297080	19297903	+	ENSG00000270728.1	processed_pseudogene	-	-	-	-
RP4-663N10.1	chr1	115283034	115368072	+	ENSG00000228035.1	antisense	-	-	-	-
RP4-665J23.1	chr1	90782983	90851657	-	ENSG00000233593.8	processed_transcript	-	-	-	-
RP4-665J23.4	chr1	90860550	90862920	-	ENSG00000272094.1	lincRNA	-	-	-	-
RP4-665N4.4	chr1	36080066	36084026	-	ENSG00000232862.5	transcribed_processed_pseudogene	-	-	-	-
RP4-665N4.8	chr1	35992109	36013630	-	ENSG00000271554.1	antisense	-	-	-	-
RP4-669K10.8	chr1	28544460	28546542	+	ENSG00000279443.1	TEC	-	-	-	-
RP4-669P10.16	chr22	42136433	42139927	-	ENSG00000232710.1	lincRNA	-	-	-	-
RP4-669P10.19	chr22	42132543	42132998	+	ENSG00000227370.1	processed_pseudogene	-	-	-	-
RP4-669P10.20	chr22	42138060	42139726	+	ENSG00000281538.1	lincRNA	-	-	-	-
RP4-671G15.2	chr1	112517799	112518441	-	ENSG00000273483.1	antisense	-	-	-	-
RP4-673D20.3	chr20	1767957	1779995	-	ENSG00000232528.3	transcribed_unitary_pseudogene	-	-	-	-
RP4-673M15.1	chr7	44884953	44886393	+	ENSG00000272768.1	antisense	-	-	-	-
RP4-675C20.4	chr1	117493515	117495006	+	ENSG00000279513.1	TEC	-	-	-	-
RP4-676J13.2	chr6	83983728	84007323	+	ENSG00000228679.1	lincRNA	-	-	-	-
RP4-680D5.2	chr1	15586136	15603626	-	ENSG00000237301.1	antisense	-	-	-	-
RP4-684O24.5	chr20	1947246	2007517	+	ENSG00000233896.1	antisense	-	-	-	-
RP4-704D21.2	chr1	147001931	147003618	-	ENSG00000234225.2	lincRNA	-	-	-	-
RP4-706G24.1	chr1	25208139	25209437	+	ENSG00000231953.2	antisense	-	-	-	-
RP4-710M3.2	chr11	30425552	30429268	+	ENSG00000255480.1	antisense	-	-	-	-
RP4-712E4.1	chr1	119000344	119001392	-	ENSG00000226172.2	lincRNA	-	-	-	-
RP4-712E4.2	chr1	119000618	119001405	-	ENSG00000239216.1	lincRNA	-	-	-	-
RP4-713B5.2	chr1	93384487	93384998	-	ENSG00000229635.1	processed_pseudogene	-	-	-	-
RP4-715N11.2	chr20	52671917	52690929	+	ENSG00000232294.5	lincRNA	-	-	-	-
RP4-717I23.2	chr1	93278961	93279129	-	ENSG00000229567.1	processed_pseudogene	-	-	-	-
RP4-717M23.2	chr20	18220113	18220512	+	ENSG00000232943.1	processed_pseudogene	-	-	-	-
RP4-718D20.3	chr20	19693209	19697576	-	ENSG00000232675.7	processed_transcript	-	-	-	-
RP4-718P11.1	chr20	13073667	13074312	-	ENSG00000271426.1	processed_pseudogene	-	-	-	-
RP4-719C8.1	chr20	59626464	59628289	-	ENSG00000238194.1	antisense	-	-	-	-
RP4-724E13.2	chr7	50866747	51022990	+	ENSG00000228204.2	antisense	-	-	-	-
RP4-724E16.2	chr20	53552770	53575863	+	ENSG00000197670.6	antisense	-	-	-	-
RP4-725G10.4	chr7	56175634	56176412	+	ENSG00000233028.1	processed_pseudogene	-	-	-	-
RP4-730K3.3	chr1	113698884	113699631	-	ENSG00000232450.1	transcribed_processed_pseudogene	-	-	-	-
RP4-734G22.3	chr1	10639241	10654333	+	ENSG00000272078.1	antisense	-	-	-	-
RP4-735C1.4	chr1	109725820	109775252	+	ENSG00000241720.2	antisense	-	-	-	-
RP4-736H5.3	chr7	67691058	67697029	-	ENSG00000233423.1	lincRNA	-	-	-	-
RP4-737E23.2	chr20	23187961	23190307	+	ENSG00000230387.2	lincRNA	-	-	-	-
RP4-738P11.3	chr1	168542737	168543354	+	ENSG00000227777.1	processed_pseudogene	-	-	-	-
RP4-738P11.4	chr1	168578653	168579439	-	ENSG00000229757.2	processed_pseudogene	-	-	-	-
RP4-738P15.1	chr20	25140789	25149258	-	ENSG00000230725.5	lincRNA	-	-	-	-
RP4-740C4.5	chr1	2350414	2352820	-	ENSG00000269896.2	transcribed_processed_pseudogene	-	-	-	-
RP4-742C19.12	chr22	39091586	39092855	+	ENSG00000225720.6	transcribed_unprocessed_pseudogene	-	-	-	-
RP4-742C19.13	chr22	39133090	39136760	+	ENSG00000279833.1	antisense	-	-	-	-
RP4-742N3.1	chr7	120141016	120142996	-	ENSG00000233417.1	lincRNA	-	-	-	-
RP4-753M9.1	chr22	45000565	45003619	-	ENSG00000230922.1	sense_intronic	-	-	-	-
RP4-756G23.5	chr22	41209122	41217627	-	ENSG00000235513.1	antisense	-	-	-	-
RP4-756H11.3	chr7	66654538	66669855	+	ENSG00000226824.6	sense_intronic	-	-	-	-
RP4-758J18.13	chr1	1409096	1410618	+	ENSG00000272455.1	lincRNA	-	-	-	-
RP4-758J18.2	chr1	1399522	1402046	+	ENSG00000224870.6	processed_transcript	-	-	-	-
RP4-760C5.3	chr20	26008791	26010531	-	ENSG00000231081.1	lincRNA	-	-	-	-
RP4-761J14.8	chr12	6663260	6672069	+	ENSG00000219410.5	antisense	-	-	-	-
RP4-773N10.4	chr1	110058340	110062555	+	ENSG00000258634.3	antisense	-	-	-	-
RP4-781K5.6	chr1	234669523	234696153	-	ENSG00000230628.1	lincRNA	-	-	-	-
RP4-781K5.7	chr1	234709383	234720220	+	ENSG00000282097.1	lincRNA	-	-	-	-
RP4-781L3.1	chr1	25125053	25125454	-	ENSG00000233419.3	processed_pseudogene	-	-	-	-
RP4-784A16.1	chr1	53267935	53268601	+	ENSG00000234578.1	antisense	-	-	-	-
RP4-785G19.5	chr20	34234840	34281173	-	ENSG00000250917.1	sense_overlapping	-	-	-	-
RP4-790G17.7	chr1	150255095	150257286	-	ENSG00000276110.1	antisense	-	-	-	-
RP4-791K14.2	chr20	49318337	49441654	+	ENSG00000283529.1	transcribed_unprocessed_pseudogene	-	-	-	-
RP4-794I6.4	chr20	3239705	3245382	+	ENSG00000277287.1	lincRNA	-	-	-	-
RP4-798A10.7	chr1	16514645	16515754	+	ENSG00000261135.1	lincRNA	-	-	-	-
RP4-798P15.3	chr1	177928788	178038007	-	ENSG00000254154.8	processed_transcript	-	-	-	-
RP4-799D16.1	chr1	25043707	25113120	-	ENSG00000233755.1	lincRNA	-	-	-	-
RP4-800G7.1	chr7	149191043	149191223	-	ENSG00000239719.1	processed_pseudogene	-	-	-	-
RP4-800G7.2	chr7	149285281	149297312	+	ENSG00000244560.6	transcribed_unprocessed_pseudogene	-	-	-	-
RP4-800G7.3	chr7	149275619	149277992	-	ENSG00000271664.1	unprocessed_pseudogene	-	-	-	-
RP4-800J21.3	chr20	57384160	57393062	-	ENSG00000218018.2	antisense	-	-	-	-
RP4-801G22.2	chr1	157629939	157630728	-	ENSG00000236731.1	unprocessed_pseudogene	-	-	-	-
RP4-803A2.1	chr1	32979947	32980472	+	ENSG00000217644.5	processed_pseudogene	-	-	-	-
RP4-806M20.3	chr20	58833809	58836529	-	ENSG00000268333.1	lincRNA	-	-	-	-
RP5-1002M8.4	chr20	20094401	20095684	-	ENSG00000241054.1	antisense	-	-	-	-
RP5-1009N12.1	chr8	30921060	30921335	+	ENSG00000253204.1	processed_pseudogene	-	-	-	-
RP5-1011O1.2	chr1	192517639	192567217	-	ENSG00000232498.1	antisense	-	-	-	-
RP5-1018K9.1	chr1	169104124	169104907	+	ENSG00000237707.1	antisense	-	-	-	-
RP5-1021I20.1	chr14	73787360	73803270	+	ENSG00000259065.1	antisense	-	-	-	-
RP5-1021I20.2	chr14	73822559	73830135	-	ENSG00000258586.1	lincRNA	-	-	-	-
RP5-1021I20.5	chr14	73896164	73938114	-	ENSG00000258891.1	antisense	-	-	-	-
RP5-1021I20.6	chr14	73905267	73905636	+	ENSG00000270140.1	sense_intronic	-	-	-	-
RP5-1023B21.1	chr21	45100487	45101094	-	ENSG00000267857.2	lincRNA	-	-	-	-
RP5-1024C24.1	chr11	30584130	30630508	+	ENSG00000254489.1	antisense	-	-	-	-
RP5-1024G6.2	chr1	53209783	53213775	-	ENSG00000236723.2	antisense	-	-	-	-
RP5-1024G6.5	chr1	53238610	53242783	+	ENSG00000226754.1	antisense	-	-	-	-
RP5-1027O15.1	chr11	29594918	29630664	+	ENSG00000255117.5	lincRNA	-	-	-	-
RP5-1028K7.2	chr17	40517026	40527002	+	ENSG00000266088.5	lincRNA	-	-	-	-
RP5-1029K10.2	chr17	49505657	49574064	-	ENSG00000249906.1	antisense	-	-	-	-
RP5-1029K10.4	chr17	49544847	49577962	-	ENSG00000250310.1	antisense	-	-	-	-
RP5-1031D4.3	chr10	7411599	7413467	+	ENSG00000278982.1	TEC	-	-	-	-
RP5-1033H22.2	chr1	93592199	93605573	+	ENSG00000224093.5	antisense	-	-	-	-
RP5-1039K5.18	chr22	38043230	38043920	+	ENSG00000273214.1	lincRNA	-	-	-	-
RP5-1041C10.3	chr20	49829125	49831085	+	ENSG00000237788.1	processed_pseudogene	-	-	-	-
RP5-1042I8.7	chr1	119909255	119910613	-	ENSG00000261662.1	sense_overlapping	-	-	-	-
RP5-1042K10.10	chr22	40372664	40388290	-	ENSG00000229999.6	antisense	-	-	-	-
RP5-1042K10.12	chr22	40433136	40433641	+	ENSG00000227413.1	processed_pseudogene	-	-	-	-
RP5-1042K10.13	chr22	40415003	40415445	+	ENSG00000272834.1	antisense	-	-	-	-
RP5-1050D4.2	chr17	4972851	4974681	+	ENSG00000234203.1	antisense	-	-	-	-
RP5-1050D4.3	chr17	4967995	4968822	+	ENSG00000262429.1	antisense	-	-	-	-
RP5-1050D4.5	chr17	4987706	4988446	+	ENSG00000262227.1	antisense	-	-	-	-
RP5-1050K3.3	chr20	47071865	47072236	+	ENSG00000239783.1	processed_pseudogene	-	-	-	-
RP5-1054A22.4	chr20	38233251	38233799	-	ENSG00000277829.1	sense_intronic	-	-	-	-
RP5-1056L3.1	chr1	19591802	19596832	-	ENSG00000235185.1	antisense	-	-	-	-
RP5-1057I20.4	chr12	47784923	47786002	+	ENSG00000268069.2	antisense	-	-	-	-
RP5-1057I20.5	chr12	47788426	47788971	+	ENSG00000276691.1	antisense	-	-	-	-
RP5-1057I20.6	chr12	47817451	47817966	-	ENSG00000274737.1	sense_intronic	-	-	-	-
RP5-1057J7.7	chr1	23378380	23379029	-	ENSG00000271420.1	lincRNA	-	-	-	-
RP5-1063M23.2	chr12	3318718	3325343	+	ENSG00000236908.2	lincRNA	-	-	-	-
RP5-1063M23.3	chr12	3296202	3366122	-	ENSG00000250770.3	transcribed_unprocessed_pseudogene	-	-	-	-
RP5-1065J22.4	chr1	109103535	109104766	-	ENSG00000251484.3	processed_pseudogene	-	-	-	-
RP5-1065J22.8	chr1	109087971	109090858	-	ENSG00000273382.1	antisense	-	-	-	-
RP5-1066H13.4	chr1	40863914	40876670	+	ENSG00000229528.1	antisense	-	-	-	-
RP5-1071N3.1	chr1	21293290	21299774	+	ENSG00000231105.1	antisense	-	-	-	-
RP5-1073O3.2	chr1	113812379	113829171	+	ENSG00000231128.5	antisense	-	-	-	-
RP5-1085F17.3	chr20	32856621	32858751	+	ENSG00000260257.2	lincRNA	-	-	-	-
RP5-1085F17.4	chr20	32843128	32854257	-	ENSG00000260536.1	antisense	-	-	-	-
RP5-1087E8.3	chr1	226992140	226993206	+	ENSG00000233706.1	antisense	-	-	-	-
RP5-1096D14.3	chr12	1917951	1922867	+	ENSG00000256706.1	antisense	-	-	-	-
RP5-1096D14.6	chr12	2004666	2011392	+	ENSG00000203593.3	antisense	-	-	-	-
RP5-1097P24.1	chr20	22220554	22223283	+	ENSG00000234862.1	lincRNA	-	-	-	-
RP5-1098D14.1	chr1	178651706	178652282	+	ENSG00000273384.1	lincRNA	-	-	-	-
RP5-1101C3.1	chr7	122328469	122440388	+	ENSG00000240499.7	antisense	-	-	-	-
RP5-1107A17.4	chr17	56982749	56985104	+	ENSG00000263120.1	sense_intronic	-	-	-	-
RP5-1112D6.4	chr6	111277932	111278742	+	ENSG00000230177.1	antisense	-	-	-	-
RP5-1112D6.7	chr6	111297126	111298510	+	ENSG00000271789.1	lincRNA	-	-	-	-
RP5-1112D6.8	chr6	111309203	111313517	+	ENSG00000272356.1	antisense	-	-	-	-
RP5-1113E3.3	chr1	10458555	10459338	+	ENSG00000203469.2	antisense	-	-	-	-
RP5-1115A15.1	chr1	8424645	8434838	+	ENSG00000232912.5	antisense	-	-	-	-
RP5-1116H23.3	chr20	5066082	5068154	-	ENSG00000277425.1	lincRNA	-	-	-	-
RP5-1116H23.4	chr20	5061037	5061340	-	ENSG00000278816.1	lincRNA	-	-	-	-
RP5-1116H23.5	chr20	5049857	5050321	-	ENSG00000276768.1	lincRNA	-	-	-	-
RP5-1119A7.14	chr22	36445395	36454944	-	ENSG00000228719.1	lincRNA	-	-	-	-
RP5-1120P11.3	chr6	44073913	44077952	+	ENSG00000231881.1	lincRNA	-	-	-	-
RP5-1125A11.4	chr20	34014969	34017749	-	ENSG00000228386.2	lincRNA	-	-	-	-
RP5-1125A11.6	chr20	33989480	33991818	-	ENSG00000275784.1	lincRNA	-	-	-	-
RP5-1125A11.7	chr20	33985617	33988989	-	ENSG00000276073.1	lincRNA	-	-	-	-
RP5-1126H10.2	chr1	19072110	19075511	-	ENSG00000272084.1	3prime_overlapping_ncRNA	-	-	-	-
RP5-1132H15.3	chr7	66025126	66031544	-	ENSG00000229886.1	processed_pseudogene	-	-	-	-
RP5-1136G13.2	chr7	148696467	148698664	-	ENSG00000273314.1	antisense	-	-	-	-
RP5-1139B12.2	chr1	228270443	228274397	-	ENSG00000269890.1	antisense	-	-	-	-
RP5-1139B12.3	chr1	228274584	228276066	-	ENSG00000269934.1	antisense	-	-	-	-
RP5-1139B12.4	chr1	228295911	228302998	-	ENSG00000270110.1	antisense	-	-	-	-
RP5-1142A6.10	chr16	88708956	88710437	-	ENSG00000278341.1	antisense	-	-	-	-
RP5-1142A6.2	chr16	88731180	88741425	+	ENSG00000224888.4	antisense	-	-	-	-
RP5-1142A6.5	chr16	88696501	88698610	+	ENSG00000259813.1	antisense	-	-	-	-
RP5-1142A6.7	chr16	88741631	88742367	+	ENSG00000260617.1	antisense	-	-	-	-
RP5-1142A6.8	chr16	88742767	88745748	+	ENSG00000182376.2	antisense	-	-	-	-
RP5-1142A6.9	chr16	88718615	88720459	+	ENSG00000260121.1	antisense	-	-	-	-
RP5-1142J19.1	chr7	157281536	157282686	-	ENSG00000229660.1	lincRNA	-	-	-	-
RP5-1148A21.3	chr6	63571005	63572408	-	ENSG00000266680.1	antisense	-	-	-	-
RP5-1154L15.1	chr12	590633	591269	+	ENSG00000255825.1	antisense	-	-	-	-
RP5-1157M23.2	chr3	52239258	52241097	+	ENSG00000243224.1	antisense	-	-	-	-
RP5-1159O4.1	chr7	7552462	7566996	-	ENSG00000272894.5	lincRNA	-	-	-	-
RP5-1170K4.7	chr22	37080068	37082847	+	ENSG00000231467.2	antisense	-	-	-	-
RP5-1184F4.5	chr20	32449755	32453607	+	ENSG00000236772.1	antisense	-	-	-	-
RP5-1184F4.7	chr20	32509959	32520285	+	ENSG00000277301.1	antisense	-	-	-	-
RP5-1185K9.1	chr20	21947647	21970783	+	ENSG00000238034.1	lincRNA	-	-	-	-
RP5-821D11.7	chr22	41831215	41834665	-	ENSG00000184068.2	antisense	-	-	-	-
RP5-826L7.1	chr6	163586583	163588165	-	ENSG00000228692.2	lincRNA	-	-	-	-
RP5-832C2.5	chr1	1574975	1577075	+	ENSG00000215014.4	lincRNA	-	-	-	-
RP5-844F9.1	chr7	44367140	44369292	-	ENSG00000279853.1	TEC	-	-	-	-
RP5-848E13.4	chr1	42959065	42961864	-	ENSG00000283973.1	lincRNA	-	-	-	-
RP5-848E13.5	chr1	42952202	42952641	-	ENSG00000284138.1	processed_pseudogene	-	-	-	-
RP5-850O15.3	chr1	50461469	50471150	+	ENSG00000225767.1	antisense	-	-	-	-
RP5-855D21.1	chr8	234347	234887	-	ENSG00000272240.1	antisense	-	-	-	-
RP5-855D21.2	chr8	237045	237669	+	ENSG00000273402.1	antisense	-	-	-	-
RP5-864K19.4	chr1	38860000	38919396	+	ENSG00000228436.2	antisense	-	-	-	-
RP5-867C24.1	chr17	47159191	47159993	-	ENSG00000239291.1	processed_pseudogene	-	-	-	-
RP5-867C24.5	chr17	47169826	47171049	+	ENSG00000261872.1	antisense	-	-	-	-
RP5-874C20.6	chr6	28319660	28319852	-	ENSG00000270326.1	processed_pseudogene	-	-	-	-
RP5-874C20.7	chr6	28315613	28315883	-	ENSG00000273712.1	processed_pseudogene	-	-	-	-
RP5-875H18.4	chr17	50100704	50101920	-	ENSG00000250282.1	antisense	-	-	-	-
RP5-875O13.6	chr1	16548651	16552531	-	ENSG00000225710.1	unprocessed_pseudogene	-	-	-	-
RP5-875O13.7	chr1	16681097	16688749	-	ENSG00000280114.1	unprocessed_pseudogene	-	-	-	-
RP5-882C2.2	chr17	44221401	44223710	+	ENSG00000260793.2	antisense	-	-	-	-
RP5-882O7.1	chr1	44843921	44844082	-	ENSG00000226499.1	processed_pseudogene	-	-	-	-
RP5-884C9.2	chr1	38047314	38119025	+	ENSG00000224592.5	lincRNA	-	-	-	-
RP5-884G6.2	chr1	99968383	99969864	-	ENSG00000228084.1	antisense	-	-	-	-
RP5-884M6.1	chr7	106775011	106795564	+	ENSG00000228742.9	lincRNA	-	-	-	-
RP5-890E16.2	chr17	48045141	48048073	-	ENSG00000263412.1	processed_transcript	-	-	-	-
RP5-890E16.5	chr17	48066704	48067293	-	ENSG00000278765.1	lincRNA	-	-	-	-
RP5-890O3.9	chr1	1317581	1318689	-	ENSG00000240731.1	sense_intronic	-	-	-	-
RP5-892F13.2	chr1	7942372	7942726	+	ENSG00000270330.1	processed_pseudogene	-	-	-	-
RP5-892K4.1	chr1	2141084	2145279	-	ENSG00000271806.1	antisense	-	-	-	-
RP5-899B16.1	chr6	139854850	139860151	+	ENSG00000231426.5	lincRNA	-	-	-	-
RP5-899E9.1	chr7	77416673	77425443	+	ENSG00000273341.1	lincRNA	-	-	-	-
RP5-901A4.1	chr11	68024809	68030461	-	ENSG00000255306.1	antisense	-	-	-	-
RP5-902P8.12	chr1	1249777	1251334	-	ENSG00000260179.1	lincRNA	-	-	-	-
RP5-903E17.2	chr1	15226373	15227549	+	ENSG00000278480.1	processed_pseudogene	-	-	-	-
RP5-903G2.2	chr11	67934563	67955802	-	ENSG00000254610.2	lincRNA	-	-	-	-
RP5-905N1.2	chr17	43782804	43784682	-	ENSG00000267604.1	antisense	-	-	-	-
RP5-906A24.2	chr17	39173290	39177503	+	ENSG00000266101.1	antisense	-	-	-	-
RP5-906C1.1	chr20	48821688	48849458	-	ENSG00000278231.1	lincRNA	-	-	-	-
RP5-908D6.1	chr1	89324522	89334880	+	ENSG00000233235.1	unprocessed_pseudogene	-	-	-	-
RP5-908M14.10	chr20	62402236	62405935	-	ENSG00000275437.1	sense_intronic	-	-	-	-
RP5-908M14.5	chr20	62427827	62447621	+	ENSG00000233017.2	antisense	-	-	-	-
RP5-908M14.9	chr20	62386303	62386970	-	ENSG00000273619.1	antisense	-	-	-	-
RP5-919F19.5	chr6	109487906	109506800	+	ENSG00000223537.2	antisense	-	-	-	-
RP5-921G16.1	chr7	124032205	124395118	+	ENSG00000242593.5	antisense	-	-	-	-
RP5-930J4.2	chr1	20732880	20733952	+	ENSG00000233069.1	antisense	-	-	-	-
RP5-934G17.6	chr1	11877770	11880406	+	ENSG00000224904.1	processed_pseudogene	-	-	-	-
RP5-942I16.1	chr7	69595958	69597448	-	ENSG00000234215.2	lincRNA	-	-	-	-
RP5-944M2.1	chr12	126400792	126405528	-	ENSG00000256494.1	lincRNA	-	-	-	-
RP5-956O18.2	chr1	230258694	230268483	-	ENSG00000227006.1	antisense	-	-	-	-
RP5-963E22.4	chr20	63166797	63180903	-	ENSG00000231977.1	lincRNA	-	-	-	-
RP5-965G21.3	chr20	25229150	25231933	+	ENSG00000277938.1	lincRNA	-	-	-	-
RP5-965G21.4	chr20	25239007	25245229	-	ENSG00000274414.1	lincRNA	-	-	-	-
RP5-965G21.6	chr20	25284915	25285588	-	ENSG00000276952.1	antisense	-	-	-	-
RP5-966M1.4	chr3	52753526	52754690	+	ENSG00000271137.1	processed_pseudogene	-	-	-	-
RP5-966M1.5	chr3	52734735	52735013	+	ENSG00000270941.1	processed_pseudogene	-	-	-	-
RP5-966M1.6	chr3	52813282	52835729	-	ENSG00000243696.4	protein_coding	-	-	-	-
RP5-966M1.7	chr3	52732547	52733867	+	ENSG00000275956.1	processed_pseudogene	-	-	-	-
RP5-968J1.1	chr20	1804016	1817606	-	ENSG00000230839.1	lincRNA	-	-	-	-
RP5-968P14.2	chr1	26692132	26694131	-	ENSG00000260063.1	antisense	-	-	-	-
RP5-979D14.1	chr1	23140325	23141142	+	ENSG00000229010.1	processed_pseudogene	-	-	-	-
RP5-991C6.2	chr6	81764211	81764503	+	ENSG00000219702.1	processed_pseudogene	-	-	-	-
RP5-991G20.2	chr16	72805998	72809872	+	ENSG00000259209.3	antisense	-	-	-	-
RP5-994D16.3	chr1	42678735	42681659	+	ENSG00000234917.2	lincRNA	-	-	-	-
RP5-994D16.9	chr1	42775813	42776790	-	ENSG00000228452.1	antisense	-	-	-	-
RP5-998N21.4	chr1	143877731	143885076	-	ENSG00000234571.1	lincRNA	-	-	-	-
RP6-102O10.1	chr1	57386576	57387450	+	ENSG00000227935.1	lincRNA	-	-	-	-
RP6-109B7.2	chr22	46055740	46058160	-	ENSG00000231010.1	lincRNA	-	-	-	-
RP6-109B7.5	chr22	46053093	46053560	+	ENSG00000273289.1	antisense	-	-	-	-
RP6-91H8.3	chr14	71141125	71143253	-	ENSG00000269927.1	lincRNA	-	-	-	-
RP9	chr7	33094797	33109401	-	ENSG00000164610.8	protein_coding	PAP-1|PAP1	7p14.3	RP9 pre-mRNA splicing factor	The protein encoded by this gene can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splicing factors, and has a role in pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene. [provided by RefSeq, Sep 2009]
RP9P	chr7	32916815	32943176	-	ENSG00000205763.13	transcribed_unprocessed_pseudogene	-	7p14.3	RP9 pseudogene	-
RPA1	chr17	1829702	1900082	+	ENSG00000132383.11	protein_coding	HSSB|MST075|REPA1|RF-A|RP-A|RPA70	17p13.3	replication protein A1	This gene encodes the largest subunit of the heterotrimeric Replication Protein A (RPA) complex, which binds to single-stranded DNA (ssDNA), forming a nucleoprotein complex that plays an important role in DNA metabolism, being involved in DNA replication, repair, recombination, telomere maintenance, and co-ordinating the cellular response to DNA damage through activation of the ataxia telangiectasia and Rad3-related protein (ATR) kinase. The nucleoprotein complex protects the single-stranded DNA from nucleases, prevents formation of secondary structures that would interfere with repair, and co-ordinates the recruitment and departure of different genome maintenance factors. This subunit contains four oligonucleotide/oligosaccharide-binding (OB) domains, though the majority of ssDNA binding occurs in two of these domains. The heterotrimeric complex has two different modes of ssDNA binding, a low-affinity and high-affinity mode, determined by which ssDNA binding domains are utilized. The different binding modes differ in the length of DNA bound and in the proteins with which it interacts, thereby playing a role in regulating different genomic maintenance pathways. [provided by RefSeq, Sep 2017]
RPA3	chr7	7636518	7718607	-	ENSG00000106399.11	protein_coding	REPA3|RP-A p14	7p21.3	replication protein A3	Ubiquitous expression in lymph node (RPKM 9.0), bone marrow (RPKM 7.1) and 25 other tissues
RPAIN	chr17	5419641	5432876	+	ENSG00000129197.14	protein_coding	HRIP|RIP	17p13.2	RPA interacting protein	Ubiquitous expression in lymph node (RPKM 8.1), testis (RPKM 8.0) and 25 other tissues
RPAP1	chr15	41517176	41544269	-	ENSG00000103932.11	protein_coding	-	15q15.1	RNA polymerase II associated protein 1	Ubiquitous expression in testis (RPKM 6.0), ovary (RPKM 4.6) and 25 other tissues
RPAP2	chr1	92298965	92402056	+	ENSG00000122484.8	protein_coding	C1orf82|Rtr1	1p22.1	RNA polymerase II associated protein 2	Ubiquitous expression in thyroid (RPKM 2.5), endometrium (RPKM 2.0) and 25 other tissues
RPAP3	chr12	47661249	47706061	-	ENSG00000005175.9	protein_coding	Tah1|hSpagh	12q13.11	RNA polymerase II associated protein 3	This gene encodes an RNA polymerase II-associated protein. The encoded protein may function in transcriptional regulation and may also regulate apoptosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
RPE	chr2	210002565	210022259	+	ENSG00000197713.14	protein_coding	RPE2-1	2q34	ribulose-5-phosphate-3-epimerase	Ubiquitous expression in thyroid (RPKM 5.9), adrenal (RPKM 5.7) and 25 other tissues
RPF1	chr1	84479259	84497790	+	ENSG00000117133.10	protein_coding	BXDC5	1p22.3	ribosome production factor 1 homolog	Ubiquitous expression in bone marrow (RPKM 14.6), thyroid (RPKM 13.5) and 25 other tissues
RPF2P1	chr20	35752814	35753719	+	ENSG00000225357.3	processed_pseudogene	BXDC1P|C20orf53|RPF2P|bA353C18.4	20q11.22	ribosome production factor 2 homolog pseudogene 1	-
RPGR	chrX	38269163	38327564	-	ENSG00000156313.12	protein_coding	COD1|CORDX1|CRD|PCDX|RP15|RP3|XLRP3|orf15	Xp11.4	retinitis pigmentosa GTPase regulator	This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008]
RPGRIP1	chr14	21287939	21351301	+	ENSG00000092200.12	protein_coding	CORD13|LCA6|RGI1|RGRIP|RPGRIP|RPGRIP1d	14q11.2	RPGR interacting protein 1	This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]
RPGRIP1L	chr16	53597683	53703938	-	ENSG00000103494.12	protein_coding	COACH3|CORS3|FTM|JBTS7|MKS5|NPHP8|PPP1R134	16q12.2	RPGRIP1 like	The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]
RPIA	chr2	88691644	88750935	+	ENSG00000153574.8	protein_coding	RPI|RPIAD	2p11.2	ribose 5-phosphate isomerase A	The protein encoded by this gene is an enzyme, which catalyzes the reversible conversion between ribose-5-phosphate and ribulose-5-phosphate in the pentose-phosphate pathway. This gene is highly conserved in most organisms. The enzyme plays an essential role in the carbohydrate metabolism. Mutations in this gene cause ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18. [provided by RefSeq, Mar 2010]
RPL10	chrX	154389955	154409168	+	ENSG00000147403.16	protein_coding	AUTSX5|DXS648|DXS648E|L10|MRXS35|NOV|QM	Xq28	ribosomal protein L10	This gene encodes a ribosomal protein that is a component of the 60S ribosome subunit. The related protein in chicken can bind to c-Jun and can repress c-Jun-mediated transcriptional activation. Some studies have detected an association between variation in this gene and autism spectrum disorders, though others do not detect this relationship. There are multiple pseudogenes of this gene dispersed throughout the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
RPL10A	chr6	35468408	35470785	+	ENSG00000198755.10	protein_coding	CSA19|Csa-19|L10A|NEDD6	6p21.31	ribosomal protein L10a	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L1P family of ribosomal proteins. It is located in the cytoplasm. The expression of this gene is downregulated in the thymus by cyclosporin-A (CsA), an immunosuppressive drug. Studies in mice have shown that the expression of the ribosomal protein L10a gene is downregulated in neural precursor cells during development. This gene previously was referred to as NEDD6 (neural precursor cell expressed, developmentally downregulated 6), but it has been renamed RPL10A (ribosomal protein 10a). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL10AP1	chr14	103412119	103412761	-	ENSG00000244691.1	processed_pseudogene	RPL10A_6_1413	14q32.32	ribosomal protein L10a pseudogene 1	-
RPL10P19	chr8	8961200	8979025	+	ENSG00000233609.3	transcribed_processed_pseudogene	-	8p23.1	ribosomal protein L10 pseudogene 19	-
RPL10P2	chr6	27211244	27211913	+	ENSG00000174572.3	processed_pseudogene	RPL10_2_670|RPL10p|bA209A2.1	6p22.1	ribosomal protein L10 pseudogene 2	-
RPL10P8	chr5	171366299	171366611	+	ENSG00000254012.1	processed_pseudogene	-	5q35.1	ribosomal protein L10 pseudogene 8	-
RPL11	chr1	23691779	23696425	+	ENSG00000142676.12	protein_coding	DBA7|GIG34|L11|uL5	1p36.11	ribosomal protein L11	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L5P family of ribosomal proteins. It is located in the cytoplasm. The protein probably associates with the 5S rRNA. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Dec 2010]
RPL11P3	chr10	87945502	87946024	+	ENSG00000213613.2	processed_pseudogene	RPL11_2_1077	10q23.31	ribosomal protein L11 pseudogene 3	-
RPL12	chr9	127447674	127451405	-	ENSG00000197958.12	protein_coding	L12	9q33.3	ribosomal protein L12	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L11P family of ribosomal proteins. It is located in the cytoplasm. The protein binds directly to the 26S rRNA. This gene is co-transcribed with the U65 snoRNA, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL12P1	chr6	33400059	33400556	-	ENSG00000204194.1	processed_pseudogene	CICK0721Q.1|RPL12-L|RPL12_5_682|dJ570F3.5	6p21.32	ribosomal protein L12 pseudogene 1	-
RPL12P14	chr1	15792796	15793285	+	ENSG00000224321.1	processed_pseudogene	RPL12_1_13	1p36.21	ribosomal protein L12 pseudogene 14	-
RPL12P27	chr10	97309138	97309958	-	ENSG00000237169.1	processed_pseudogene	RPL12_9_1087	10q24.1	ribosomal protein L12 pseudogene 27	-
RPL12P30	chr11	30368148	30368646	+	ENSG00000242353.1	processed_pseudogene	RPL12_11_1132	11p14.1	ribosomal protein L12 pseudogene 30	-
RPL12P35	chr15	72379215	72379710	-	ENSG00000243007.1	processed_pseudogene	RPL12_13_1452	15q23	ribosomal protein L12 pseudogene 35	-
RPL12P41	chr19	46219423	46219920	+	ENSG00000269637.1	processed_pseudogene	RPL12_21_1660	19q13.32	ribosomal protein L12 pseudogene 41	-
RPL12P42	chr19	13157959	13158788	-	ENSG00000213253.5	processed_pseudogene	RPL12_15_1630	19p13.13	ribosomal protein L12 pseudogene 42	-
RPL12P8	chr10	67874332	67874911	+	ENSG00000219932.6	processed_pseudogene	RPL12_10_1052|bA57G10.3	10q21.3	ribosomal protein L12 pseudogene 8	-
RPL12P9	chr21	29127701	29128188	-	ENSG00000232687.1	processed_pseudogene	RPL12_18_1725	21q21.3	ribosomal protein L12 pseudogene 9	-
RPL13	chr16	89560657	89566828	+	ENSG00000167526.13	protein_coding	BBC1|D16S444E|D16S44E|L13|SEMDIST	16q24.3|17p11.2	ribosomal protein L13	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L13E family of ribosomal proteins. It is located in the cytoplasm. This gene is expressed at significantly higher levels in benign breast lesions than in breast carcinomas. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2011]
RPL13A	chr19	49487554	49492308	+	ENSG00000142541.16	protein_coding	L13A|TSTA1	19q13.33	ribosomal protein L13a	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L13P family of ribosomal proteins that is a component of the 60S subunit. The encoded protein also plays a role in the repression of inflammatory genes as a component of the IFN-gamma-activated inhibitor of translation (GAIT) complex. This gene is co-transcribed with the small nucleolar RNA genes U32, U33, U34, and U35, which are located in the second, fourth, fifth, and sixth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
RPL13AP20	chr12	12875499	12876107	+	ENSG00000234498.3	processed_pseudogene	HANR|RPL13A_9_1211	12p13.1	ribosomal protein L13a pseudogene 20	-
RPL13AP3	chr14	55766177	55767717	+	ENSG00000177350.6	transcribed_processed_pseudogene	RPL13A_11_1370	14q22.3	ribosomal protein L13a pseudogene 3	-
RPL13P2	chr20	46099518	46100176	+	ENSG00000213820.3	processed_pseudogene	RPL13P3|RPL13_7_1707|dJ599F21.2	20q13.12	ribosomal protein L13 pseudogene 2	-
RPL13P4	chr15	75388267	75388828	+	ENSG00000241890.1	processed_pseudogene	HsT16723|RPL13_6_1454	15q24.2	ribosomal protein L13 pseudogene 4	-
RPL13P5	chr12	6873389	6884741	+	ENSG00000240370.6	transcribed_processed_pseudogene	RPL13-2|RPL13L|RPL13_4_1199|RRPL13L	12p13.31	ribosomal protein L13 pseudogene 5	-
RPL14	chr3	40457292	40468587	+	ENSG00000188846.13	protein_coding	CAG-ISL-7|CTG-B33|L14|RL14|hRL14	3p22.1	ribosomal protein L14	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L14E family of ribosomal proteins. It contains a basic region-leucine zipper (bZIP)-like domain. The protein is located in the cytoplasm. This gene contains a trinucleotide (GCT) repeat tract whose length is highly polymorphic; these triplet repeats result in a stretch of alanine residues in the encoded protein. Transcript variants utilizing alternative polyA signals and alternative 5-terminal exons exist but all encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL15	chr3	23916545	23923692	+	ENSG00000174748.18	protein_coding	DBA12|EC45|L15|RPL10|RPLY10|RPYL10	3p24.2	ribosomal protein L15	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L15E family of ribosomal proteins and a component of the 60S subunit. This gene shares sequence similarity with the yeast ribosomal protein YL10 gene. Elevated expression of this gene has been observed in esophageal tumors and gastric cancer tissues, and deletion of this gene has been observed in a Diamond-Blackfan anemia (DBA) patient. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Mar 2017]
RPL17	chr18	49488453	49492523	-	ENSG00000265681.7	protein_coding	L17|PD-1|RPL23	18q21.1	ribosomal protein L17	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L22P family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as rpL23 because the encoded protein shares amino acid identity with ribosomal protein L23 from Halobacterium marismortui; however, its official symbol is RPL17. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream C18orf32 (chromosome 18 open reading frame 32) gene. [provided by RefSeq, Dec 2010]
RPL17P50	chr10	73005833	73006595	-	ENSG00000213700.3	processed_pseudogene	-	10q22.1	ribosomal protein L17 pseudogene 50	-
RPL18	chr19	48615328	48619536	-	ENSG00000063177.12	protein_coding	DBA18|L18	19q13.33	ribosomal protein L18	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18E family of ribosomal proteins that is a component of the 60S subunit. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
RPL18A	chr19	17859876	17864153	+	ENSG00000105640.12	protein_coding	L18A	19p13.11	ribosomal protein L18a	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18AE family of ribosomal proteins that is a component of the 60S subunit. The encoded protein may play a role in viral replication by interacting with the hepatitis C virus internal ribosome entry site (IRES). This gene is co-transcribed with the U68 snoRNA, located within the third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Jul 2012]
RPL18AP2	chr21	46420553	46421034	-	ENSG00000225043.1	processed_pseudogene	-	21q22.3	ribosomal protein L18a pseudogene 2	-
RPL18AP7	chr3	38526802	38527325	-	ENSG00000232439.1	processed_pseudogene	RPL18A_2_364	3p22.2	ribosomal protein L18a pseudogene 7	-
RPL18P13	chr16	76235055	76235623	-	ENSG00000244485.1	processed_pseudogene	RPL18_5_1500	16q23.1	ribosomal protein L18 pseudogene 13	-
RPL19	chr17	39200283	39204727	+	ENSG00000108298.9	protein_coding	L19	17q12	ribosomal protein L19	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L19E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL21	chr13	27251309	27256691	+	ENSG00000122026.10	protein_coding	HYPT12|L21	13q12.2	ribosomal protein L21	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L21E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL21P1	chr12	122364782	122365632	+	ENSG00000214760.3	processed_pseudogene	RPL21P	12q24.31	ribosomal protein L21 pseudogene 1	-
RPL21P116	chr15	78863247	78863729	-	ENSG00000243711.1	processed_pseudogene	RPL21_55_1456	15q25.1	ribosomal protein L21 pseudogene 116	-
RPL21P120	chr17	21504558	21505059	+	ENSG00000244582.2	processed_pseudogene	RPL21_57_1527	17p11.2	ribosomal protein L21 pseudogene 120	-
RPL21P13	chr14	103241492	103241972	+	ENSG00000242837.1	processed_pseudogene	RPL21_52_1410	14q32.32	ribosomal protein L21 pseudogene 13	-
RPL21P23	chr1	56538452	56538911	+	ENSG00000236776.1	processed_pseudogene	RPL21_2_54	1p32.2	ribosomal protein L21 pseudogene 23	-
RPL21P42	chr3	154023835	154024298	+	ENSG00000240068.1	processed_pseudogene	RPL21_13_421	3q25.2	ribosomal protein L21 pseudogene 42	-
RPL21P44	chr4	53986587	53987058	-	ENSG00000229585.4	processed_pseudogene	RPL21_17_477	4q12	ribosomal protein L21 pseudogene 44	-
RPL22L1	chr3	170864875	170870483	-	ENSG00000163584.17	protein_coding	-	3q26.2	ribosomal protein L22 like 1	-
RPL22P17	chr10	102887874	102888188	-	ENSG00000235266.1	processed_pseudogene	RPL22_7_1091	10q24.32	ribosomal protein L22 pseudogene 17	-
RPL22P19	chr12	124935455	124935895	-	ENSG00000241129.3	transcribed_processed_pseudogene	RPL22_8_1294	12q24.31	ribosomal protein L22 pseudogene 19	-
RPL23	chr17	38847865	38853843	-	ENSG00000125691.12	protein_coding	L23|rpL17	17q12	ribosomal protein L23	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L14P family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as rpL17 because the encoded protein shares amino acid identity with ribosomal protein L17 from Saccharomyces cerevisiae; however, its official symbol is RPL23. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL23A	chr17	28719393	28724359	+	ENSG00000198242.13	protein_coding	L23A|MDA20	17q11.2	ribosomal protein L23a	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L23P family of ribosomal proteins. It is located in the cytoplasm. The protein may be one of the target molecules involved in mediating growth inhibition by interferon. In yeast, the corresponding protein binds to a specific site on the 26S rRNA. This gene is co-transcribed with the U42A, U42B, U101A, and U101B small nucleolar RNA genes, which are located in its third, first, second, and fourth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL23AP1	chr6	29726669	29727139	-	ENSG00000239257.1	transcribed_processed_pseudogene	RPL23A_15_676|dJ377H14.8	6p22.1	ribosomal protein L23a pseudogene 1	-
RPL23AP25	chr1	248936581	248937043	+	ENSG00000233084.2	processed_pseudogene	RPL23A_7_192	1q44	ribosomal protein L23a pseudogene 25	-
RPL23AP26	chr2	231585864	231586327	+	ENSG00000228884.2	processed_pseudogene	RPL23A_14_334	2q37.1	ribosomal protein L23a pseudogene 26	-
RPL23AP32	chr2	54529343	54529801	+	ENSG00000237887.1	processed_pseudogene	RPL23A_9_220	2p16.2	ribosomal protein L23a pseudogene 32	This locus represents a transcribed pseudogene of ribosomal protein L23a. [provided by RefSeq, Aug 2011]
RPL23AP53	chr8	213186	232231	-	ENSG00000223508.5	transcribed_processed_pseudogene	RPL23A_20_869	8p23.3	ribosomal protein L23a pseudogene 53	Ubiquitous expression in ovary (RPKM 3.1), testis (RPKM 2.9) and 25 other tissues
RPL23AP55	chr8	23206918	23207369	+	ENSG00000243265.1	processed_pseudogene	RPL23A_23_884	8p21.3	ribosomal protein L23a pseudogene 55	-
RPL23AP7	chr2	113610502	113627090	-	ENSG00000240356.6	transcribed_processed_pseudogene	RPL23AL1|RPL23A_6_267|bA395L14.9	2q14.1	ribosomal protein L23a pseudogene 7	-
RPL23AP70	chr14	35144021	35144480	-	ENSG00000241052.1	processed_pseudogene	RPL23A_27_1353	14q13.2	ribosomal protein L23a pseudogene 70	-
RPL23AP75	chr17	40439467	40439917	-	ENSG00000240125.1	processed_pseudogene	RPL23A_32_1546	17q21.2	ribosomal protein L23a pseudogene 75	-
RPL23AP81	chr20	41196691	41197157	+	ENSG00000242748.1	transcribed_processed_pseudogene	RPL23A_40_1702	20q12	ribosomal protein L23a pseudogene 81	-
RPL23AP87	chr17	83226897	83240804	+	ENSG00000232938.2	transcribed_processed_pseudogene	-	17q25.3	ribosomal protein L23a pseudogene 87	-
RPL23AP95	chr7	103152007	103152325	-	ENSG00000236848.2	processed_pseudogene	-	7q22.1	ribosomal protein L23a pseudogene 95	-
RPL23AP97	chr13	114346167	114346637	+	ENSG00000260615.1	processed_pseudogene	-	13q34	ribosomal protein L23a pseudogene 97	-
RPL23P2	chr21	28997613	28998033	-	ENSG00000176054.6	processed_pseudogene	RPL23_4_1724	21q21.3	ribosomal protein L23 pseudogene 2	-
RPL24P2	chr20	21114723	21115197	+	ENSG00000235065.1	processed_pseudogene	RPL24_5_1691|dJ872K7.2	20p11.23	RPL24 pseudogene 2	-
RPL26	chr17	8377520	8383213	-	ENSG00000161970.12	protein_coding	DBA11|L26	17p13.1	ribosomal protein L26	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L24P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
RPL26L1	chr5	172958729	172969771	+	ENSG00000037241.7	protein_coding	RPL26P1	5q35.1	ribosomal protein L26 like 1	This gene encodes a protein that shares high sequence similarity with ribosomal protein L26. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Dec 2015]
RPL26P27	chr10	68499532	68499968	+	ENSG00000226493.1	processed_pseudogene	RPL26_15_1055	10q21.3	ribosomal protein L26 pseudogene 27	-
RPL26P30	chr11	2335132	2335776	-	ENSG00000236264.4	transcribed_processed_pseudogene	RPL26_10_1113	11p15.5	ribosomal protein L26 pseudogene 30	-
RPL27	chr17	42998273	43002959	+	ENSG00000131469.12	protein_coding	DBA16|L27	17q21.31	ribosomal protein L27	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L27e family of ribosomal proteins and a component of the 60S subunit. A splice site mutation in this gene has been identified in a Diamond-Blackfan anemia (DBA) patient. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Mar 2017]
RPL27A	chr11	8682411	8714759	+	ENSG00000166441.12	protein_coding	L27A	11p15.4	ribosomal protein L27a	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L15P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL27P12	chr12	123721246	123721639	-	ENSG00000239215.1	processed_pseudogene	RPL27_4_1293	12q24.31	ribosomal protein L27 pseudogene 12	-
RPL28	chr19	55385345	55403250	+	ENSG00000108107.14	protein_coding	L28	19q13.42	ribosomal protein L28	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L28E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2008]
RPL29	chr3	51993600	51995942	-	ENSG00000162244.10	protein_coding	HIP|HUMRPL29|L29|RPL29P10|RPL29_3_370	3p21.2	ribosomal protein L29	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29E family of ribosomal proteins. The protein is also a peripheral membrane protein expressed on the cell surface that directly binds heparin. Although this gene was previously reported to map to 3q29-qter, it is believed that it is located at 3p21.3-p21.2. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL29P11	chr3	37016523	37017014	-	ENSG00000224858.5	processed_pseudogene	RPL29_2_362	3p22.2	ribosomal protein L29 pseudogene 11	-
RPL29P12	chr5	43666766	43667232	-	ENSG00000224993.3	processed_pseudogene	RPL29_6_558	5p12	ribosomal protein L29 pseudogene 12	-
RPL29P14	chr5	149545383	149545810	-	ENSG00000241112.1	processed_pseudogene	RPL29_7_626	5q32	ribosomal protein L29 pseudogene 14	-
RPL29P24	chr12	120522664	120523443	-	ENSG00000241030.1	processed_pseudogene	RPL29_16_1290	12q24.31	ribosomal protein L29 pseudogene 24	-
RPL29P25	chr12	110841538	110842387	-	ENSG00000241286.2	processed_pseudogene	RPL29_15_1277	12q24.11	ribosomal protein L29 pseudogene 25	-
RPL29P30	chr15	70796597	70802688	-	ENSG00000235420.7	transcribed_processed_pseudogene	RPL29_20_1448	15q23	ribosomal protein L29 pseudogene 30	-
RPL3	chr22	39312882	39320389	-	ENSG00000100316.15	protein_coding	ASC-1|L3|TARBP-B	22q13.1	ribosomal protein L3	Ribosomes, the complexes that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L3P family of ribosomal proteins and it is located in the cytoplasm. The protein can bind to the HIV-1 TAR mRNA, and it has been suggested that the protein contributes to tat-mediated transactivation. This gene is co-transcribed with several small nucleolar RNA genes, which are located in several of this genes introns. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL30	chr8	98024851	98046469	-	ENSG00000156482.10	protein_coding	L30	8q22.2	ribosomal protein L30	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30E family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the U72 small nucleolar RNA gene, which is located in its fourth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL30P12	chr12	106910757	106911109	+	ENSG00000240631.1	processed_pseudogene	RPL30_6_1274	12q23.3	ribosomal protein L30 pseudogene 12	-
RPL31	chr2	101001715	101024032	+	ENSG00000071082.10	protein_coding	L31	2q11.2	ribosomal protein L31	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L31E family of ribosomal proteins. It is located in the cytoplasm. Higher levels of expression of this gene in familial adenomatous polyps compared to matched normal tissues have been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
RPL31P11	chr1	161683695	161685252	-	ENSG00000213075.7	transcribed_processed_pseudogene	RPL31_1_108	1q23.3	ribosomal protein L31 pseudogene 11	-
RPL31P12	chr1	72301472	72301829	+	ENSG00000227207.2	processed_pseudogene	RPL31_1_62	1p31.1	ribosomal protein L31 pseudogene 12	-
RPL31P2	chr20	33752167	33752543	-	ENSG00000230837.1	processed_pseudogene	RPL31_25_1695|dJ553F4.5	20q11.22	ribosomal protein L31 pseudogene 2	-
RPL31P28	chr6	53354715	53355065	+	ENSG00000219863.5	processed_pseudogene	RPL31_12_703	6p12.1	ribosomal protein L31 pseudogene 28	-
RPL31P52	chr12	120450437	120450803	-	ENSG00000219355.2	processed_pseudogene	RPL31_18_1289	12q24.31	ribosomal protein L31 pseudogene 52	-
RPL31P57	chr17	64308316	64308690	-	ENSG00000256358.1	processed_pseudogene	RPL31_21_1570	17q23.3	ribosomal protein L31 pseudogene 57	-
RPL32	chr3	12834485	12841588	-	ENSG00000144713.12	protein_coding	L32|PP9932	3p25.2	ribosomal protein L32	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L32E family of ribosomal proteins. It is located in the cytoplasm. Although some studies have mapped this gene to 3q13.3-q21, it is believed to map to 3p25-p24. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008]
RPL32P1	chr6	33079451	33079860	+	ENSG00000224796.1	processed_pseudogene	RPL32-L|RPL32P|RPL32_6_681	6p21.32	ribosomal protein L32 pseudogene 1	-
RPL32P3	chr3	129382922	129399655	-	ENSG00000251474.6	transcribed_unprocessed_pseudogene	-	3q21.3	ribosomal protein L32 pseudogene 3	-
RPL34	chr4	108620566	108630412	+	ENSG00000109475.16	protein_coding	L34	4q25	ribosomal protein L34	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L34E family of ribosomal proteins. It is located in the cytoplasm. This gene originally was thought to be located at 17q21, but it has been mapped to 4q. Overexpression of this gene has been observed in some cancer cells. Alternative splicing results in multiple transcript variants, all encoding the same isoform. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Feb 2016]
RPL34P17	chr8	52313154	52313500	-	ENSG00000240534.1	processed_pseudogene	RPL34_6_902	8q11.23	ribosomal protein L34 pseudogene 17	-
RPL34P34	chr19	22368599	22368952	-	ENSG00000236312.3	processed_pseudogene	RPL34_15_1639	19p12	ribosomal protein L34 pseudogene 34	-
RPL35	chr9	124857880	124861981	-	ENSG00000136942.14	protein_coding	DBA19|L35	9q33.3	ribosomal protein L35	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL35A	chr3	197949987	197956610	+	ENSG00000182899.14	protein_coding	DBA5|L35A|eL33	3q29	ribosomal protein L35a	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L35AE family of ribosomal proteins. It is located in the cytoplasm. The rat protein has been shown to bind to both initiator and elongator tRNAs, and thus, it is located at the P site, or P and A sites, of the ribosome. Although this gene was originally mapped to chromosome 18, it has been established that it is located at 3q29-qter. Alternative splicing results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Oct 2015]
RPL36	chr19	5674947	5691876	+	ENSG00000130255.12	protein_coding	L36	19p13.3	ribosomal protein L36	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L36E family of ribosomal proteins. It is located in the cytoplasm. Transcript variants derived from alternative splicing exist; they encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL36AL	chr14	49618519	49620685	-	ENSG00000165502.6	protein_coding	RPL36A	14q21.3	ribosomal protein L36a like	Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with yeast ribosomal protein L44, belongs to the L44E (L36AE) family of ribosomal proteins. This gene and the human gene officially named ribosomal protein L36a (RPL36A) encode nearly identical proteins; however, they are distinct genes. Although the name of this gene has been referred to as ribosomal protein L36a (RPL36A), its official name is ribosomal protein L36a-like (RPL36AL). As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL36P20	chr3	41955445	41955763	+	ENSG00000234270.1	processed_pseudogene	-	3p22.1	ribosomal protein L36 pseudogene 20	-
RPL36P4	chr20	35544430	35544747	-	ENSG00000224497.1	processed_pseudogene	RPL36_7_1697|dJ477O4.3	20q11.22	ribosomal protein L36 pseudogene 4	-
RPL37	chr5	40825262	40835335	-	ENSG00000145592.13	protein_coding	L37	5p13.1	ribosomal protein L37	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L37E family of ribosomal proteins. It is located in the cytoplasm. The protein contains a C2C2-type zinc finger-like motif. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL37A	chr2	216498189	216579180	+	ENSG00000197756.9	protein_coding	L37A	2q35	ribosomal protein L37a	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L37AE family of ribosomal proteins. It is located in the cytoplasm. The protein contains a C4-type zinc finger-like domain. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL39	chrX	119786504	119791643	-	ENSG00000198918.7	protein_coding	L39|RPL39P42|RPL39_23_1806	Xq24	ribosomal protein L39	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the S39E family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein is the smallest, and one of the most basic, proteins of the ribosome. This gene is co-transcribed with the U69 small nucleolar RNA gene, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL39L	chr3	187120948	187180908	-	ENSG00000163923.9	protein_coding	L39-2|RPL39L1	3q27.3	ribosomal protein L39 like	This gene encodes a protein sharing high sequence similarity with ribosomal protein L39. Although the name of this gene has been referred to as ribosomal protein L39 in the public databases, its official name is ribosomal protein L39-like. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq, Jul 2008]
RPL39P	chr20	56459428	56459583	-	ENSG00000228601.1	processed_pseudogene	RPL39_20_1715|dJ1167H4.5	20q13.31	ribosomal protein L39 pseudogene	-
RPL39P36	chr19	53413190	53413345	+	ENSG00000239912.1	processed_pseudogene	RPL39_17_1668	19q13.42	ribosomal protein L39 pseudogene 36	-
RPL39P5	chr3	134351852	134356561	-	ENSG00000214289.2	transcribed_processed_pseudogene	RPL39_7_406	3q22.2	ribosomal protein L39 pseudogene 5	Predicted to be a structural constituent of ribosome. Predicted to be involved in translation. Predicted to be part of cytosolic large ribosomal subunit. [provided by Alliance of Genome Resources, Apr 2022]
RPL3L	chr16	1943974	1957606	-	ENSG00000140986.7	protein_coding	CMD2D	16p13.3	ribosomal protein L3 like	This gene encodes a protein that shares sequence similarity with ribosomal protein L3. The protein belongs to the L3P family of ribosomal proteins. Unlike the ubiquitous expression of ribosomal protein genes, this gene has a tissue-specific pattern of expression, with the highest levels of expression in skeletal muscle and heart. It is not currently known whether the encoded protein is a functional ribosomal protein or whether it has evolved a function that is independent of the ribosome. [provided by RefSeq, Jul 2008]
RPL3P1	chr21	36168970	36170180	-	ENSG00000228149.1	processed_pseudogene	RPL3P|RPL3_8_1731	21q22.12	ribosomal protein L3 pseudogene 1	-
RPL3P2	chr6	31280317	31281519	+	ENSG00000227939.1	processed_pseudogene	RPL3-Hom|RPL3_1_679	6p21.33	ribosomal protein L3 pseudogene 2	-
RPL3P6	chr5	61390668	61391871	-	ENSG00000213891.3	processed_pseudogene	RPL3_2_568	5q12.1	ribosomal protein L3 pseudogene 6	-
RPL4	chr15	66498015	66524532	-	ENSG00000174444.14	protein_coding	L4	15q22.31	ribosomal protein L4	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L4E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL41	chr12	56116586	56117943	+	ENSG00000229117.8	protein_coding	L41	12q13.2	ribosomal protein L41	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which shares sequence similarity with the yeast ribosomal protein YL41, belongs to the L41E family of ribosomal proteins. It is located in the cytoplasm. The protein can interact with the beta subunit of protein kinase CKII and can stimulate the phosphorylation of DNA topoisomerase II-alpha by CKII. Two alternative splice variants have been identified, both encoding the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL41P1	chr20	21755270	21755350	+	ENSG00000227063.5	processed_pseudogene	RPL41L2|dJ1065O2.1	20p11.22	ribosomal protein L41 pseudogene 1	-
RPL41P2	chr15	28315651	28316059	+	ENSG00000256338.2	processed_pseudogene	-	15q13.1	ribosomal protein L41 pseudogene 2	-
RPL4P3	chr1	171683128	171684438	-	ENSG00000230364.1	processed_pseudogene	RPL4_1_122	1q24.3	ribosomal protein L4 pseudogene 3	-
RPL5	chr1	92832025	92841924	+	ENSG00000122406.12	protein_coding	L5|MSTP030|PPP1R135|uL18	1p22.1	ribosomal protein L5	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the L18P family of ribosomal proteins and component of the 60S subunit. The encoded protein binds 5S rRNA to form a stable complex called the 5S ribonucleoprotein particle (RNP), which is necessary for the transport of nonribosome-associated cytoplasmic 5S rRNA to the nucleolus for assembly into ribosomes. The encoded protein may also function to inhibit tumorigenesis through the activation of downstream tumor suppressors and the downregulation of oncoprotein expression. Mutations in this gene have been identified in patients with Diamond-Blackfan Anemia (DBA). This gene is co-transcribed with the small nucleolar RNA gene U21, which is located in its fifth intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Mar 2017]
RPL5P22	chr8	28299683	28300566	+	ENSG00000239198.1	processed_pseudogene	RPL5_12_886	8p21.1	ribosomal protein L5 pseudogene 22	-
RPL5P24	chr8	102923371	102924255	-	ENSG00000244052.1	processed_pseudogene	RPL5_9_935	8q22.3	ribosomal protein L5 pseudogene 24	-
RPL5P28	chr10	133144612	133145304	-	ENSG00000235264.1	processed_pseudogene	RPL5_11_1110	10q26.3	ribosomal protein L5 pseudogene 28	-
RPL5P30	chr11	118560690	118561580	+	ENSG00000243431.1	processed_pseudogene	RPL5_16_1181	11q23.3	ribosomal protein L5 pseudogene 30	-
RPL5P34	chr22	42776406	42777296	-	ENSG00000234009.1	processed_pseudogene	RPL5_15_1754	22q13.2	ribosomal protein L5 pseudogene 34	-
RPL6	chr12	112405190	112418838	-	ENSG00000089009.15	protein_coding	L6|SHUJUN-2|TAXREB107|TXREB1	12q24.13	ribosomal protein L6	This gene encodes a protein component of the 60S ribosomal subunit. This protein can bind specifically to domain C of the tax-responsive enhancer element of human T-cell leukemia virus type 1, and may participate in tax-mediated transactivation of transcription. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
RPL7	chr8	73290267	73295789	-	ENSG00000147604.13	protein_coding	L7|humL7-1	8q21.11	ribosomal protein L7	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L30P family of ribosomal proteins. It contains an N-terminal basic region-leucine zipper (BZIP)-like domain and the RNP consensus submotif RNP2. In vitro the BZIP-like domain mediates homodimerization and stable binding to DNA and RNA, with a preference for 28S rRNA and mRNA. The protein can inhibit cell-free translation of mRNAs, suggesting that it plays a regulatory role in the translation apparatus. It is located in the cytoplasm. The protein has been shown to be an autoantigen in patients with systemic autoimmune diseases, such as systemic lupus erythematosus. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL7A	chr9	133348214	133351426	+	ENSG00000148303.16	protein_coding	L7A|SURF3|TRUP	9q34.2	ribosomal protein L7a	Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L7AE family of ribosomal proteins. It can interact with a subclass of nuclear hormone receptors, including thyroid hormone receptor, and inhibit their ability to transactivate by preventing their binding to their DNA response elements. This gene is included in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity. It is co-transcribed with the U24, U36a, U36b, and U36c small nucleolar RNA genes, which are located in its second, fifth, fourth, and sixth introns, respectively. This gene rearranges with the trk proto-oncogene to form the chimeric oncogene trk-2h, which encodes an oncoprotein consisting of the N terminus of ribosomal protein L7a fused to the receptor tyrosine kinase domain of trk. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL7AP2	chr14	39156742	39157852	+	ENSG00000241984.2	processed_pseudogene	RPL7A_26_1357	14q21.1	ribosomal protein L7a pseudogene 2	-
RPL7AP26	chr4	82490823	82491635	-	ENSG00000214988.4	processed_pseudogene	RPL7A_8_496	4q21.22	ribosomal protein L7a pseudogene 26	-
RPL7AP28	chr4	131857343	131857913	-	ENSG00000184139.8	processed_pseudogene	RPL7A_10_519	4q28.3	ribosomal protein L7a pseudogene 28	-
RPL7AP4	chr14	55543401	55544169	+	ENSG00000213641.4	processed_pseudogene	RPL7A_27_1369	14q22.3	ribosomal protein L7a pseudogene 4	-
RPL7AP50	chr10	63902451	63903245	-	ENSG00000213609.3	processed_pseudogene	RPL7A_23_1048	10q21.3	ribosomal protein L7a pseudogene 50	-
RPL7AP65	chr17	18311904	18312651	+	ENSG00000228000.1	processed_pseudogene	RPL7A_30_1522	17p11.2	ribosomal protein L7a pseudogene 65	-
RPL7AP7	chr6	29803195	29803991	-	ENSG00000213880.3	processed_pseudogene	RPL7A_13_677|RPL7B|dJ377H14.2	6p22.1	ribosomal protein L7a pseudogene 7	-
RPL7L1	chr6	42879618	42889925	+	ENSG00000146223.14	protein_coding	dJ475N16.4	6p21.1	ribosomal protein L7 like 1	Ubiquitous expression in thyroid (RPKM 20.6), brain (RPKM 19.0) and 25 other tissues
RPL7L1P5	chr17	44365014	44365751	-	ENSG00000267634.1	processed_pseudogene	-	17q21.31	ribosomal protein L7 like 1 pseudogene 5	-
RPL7L1P9	chr2	217760547	217761291	-	ENSG00000231035.1	processed_pseudogene	-	2q35	ribosomal protein L7 like 1 pseudogene 9	-
RPL7P14	chr2	203040108	203040899	+	ENSG00000232994.1	processed_pseudogene	RPL7_5_313	2q33.2	ribosomal protein L7 pseudogene 14	-
RPL7P22	chr5	72725419	72726151	+	ENSG00000226544.4	processed_pseudogene	RPL7_6_574	5q13.2	ribosomal protein L7 pseudogene 22	-
RPL7P28	chr6	109327175	109327914	-	ENSG00000218632.3	processed_pseudogene	RPL7_12_736	6q21	ribosomal protein L7 pseudogene 28	-
RPL7P3	chr20	62572671	62573384	+	ENSG00000226094.1	processed_pseudogene	dJ353C17.2	20q13.33	ribosomal protein L7 pseudogene 3	-
RPL7P38	chr12	80028893	80029631	+	ENSG00000239473.1	processed_pseudogene	RPL7_24_1261	12q21.31	ribosomal protein L7 pseudogene 38	-
RPL7P4	chr6	30696806	30697535	-	ENSG00000230449.1	processed_pseudogene	Em:AB023049.2|RPL7_10_678	6p21.33	ribosomal protein L7 pseudogene 4	-
RPL7P51	chr19	51648862	51649610	+	ENSG00000243469.1	processed_pseudogene	RPL7_29_1664	19q13.41	ribosomal protein L7 pseudogene 51	-
RPL7P9	chr1	96678874	96679620	-	ENSG00000137970.7	processed_pseudogene	RPL7_3_75	1p21.3	ribosomal protein L7 pseudogene 9	-
RPL8	chr8	144789765	144792587	-	ENSG00000161016.17	protein_coding	L8	8q24.3	ribosomal protein L8	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L2P family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein associates with the 5.8S rRNA, very likely participates in the binding of aminoacyl-tRNA, and is a constituent of the elongation factor 2-binding site at the ribosomal subunit interface. Alternatively spliced transcript variants encoding the same protein exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPL9	chr4	39454124	39458948	-	ENSG00000163682.15	protein_coding	L9|NPC-A-16	4p14	ribosomal protein L9	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L6P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
RPL9P2	chr17	15443639	15444191	+	ENSG00000234324.1	processed_pseudogene	RPL9_10_1518	17p12	ribosomal protein L9 pseudogene 2	-
RPL9P25	chr15	66379337	66379915	-	ENSG00000240821.1	processed_pseudogene	RPL9_13_1445	15q22.31	ribosomal protein L9 pseudogene 25	-
RPL9P28	chr17	48691116	48691694	-	ENSG00000242067.1	processed_pseudogene	RPL9_16_1554	17q21.32	ribosomal protein L9 pseudogene 28	-
RPL9P30	chr17	29855759	29856332	+	ENSG00000240074.1	processed_pseudogene	RPL9_11_1536	17q11.2	ribosomal protein L9 pseudogene 30	-
RPL9P33	chr19	51621136	51621701	+	ENSG00000244071.1	processed_pseudogene	RPL9_13_1663	19q13.41	ribosomal protein L9 pseudogene 33	-
RPLP0	chr12	120196686	120201235	-	ENSG00000089157.15	protein_coding	L10E|LP0|P0|PRLP0|RPP0	12q24.23	ribosomal protein lateral stalk subunit P0	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein, which is the functional equivalent of the E. coli L10 ribosomal protein, belongs to the L10P family of ribosomal proteins. It is a neutral phosphoprotein with a C-terminal end that is nearly identical to the C-terminal ends of the acidic ribosomal phosphoproteins P1 and P2. The P0 protein can interact with P1 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Transcript variants derived from alternative splicing exist; they encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPLP1	chr15	69452784	69456194	+	ENSG00000137818.11	protein_coding	LP1|P1|RPP1	15q23	ribosomal protein lateral stalk subunit P1	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P2. The P1 protein can interact with P0 and P2 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. Two alternatively spliced transcript variants that encode different proteins have been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPLP2	chr11	809647	812880	+	ENSG00000177600.8	protein_coding	D11S2243E|LP2|P2|RPP2	11p15.5	ribosomal protein lateral stalk subunit P2	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal phosphoprotein that is a component of the 60S subunit. The protein, which is a functional equivalent of the E. coli L7/L12 ribosomal protein, belongs to the L12P family of ribosomal proteins. It plays an important role in the elongation step of protein synthesis. Unlike most ribosomal proteins, which are basic, the encoded protein is acidic. Its C-terminal end is nearly identical to the C-terminal ends of the ribosomal phosphoproteins P0 and P1. The P2 protein can interact with P0 and P1 to form a pentameric complex consisting of P1 and P2 dimers, and a P0 monomer. The protein is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPN1	chr3	128619970	128681075	-	ENSG00000163902.11	protein_coding	OST1|RBPH1	3q21.3	ribophorin I	This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein forms part of the regulatory subunit of the 26S proteasome and may mediate binding of ubiquitin-like domains to this proteasome. [provided by RefSeq, Jul 2008]
RPN2	chr20	37178410	37241623	+	ENSG00000118705.16	protein_coding	RIBIIR|RPN-II|RPNII|SWP1	20q11.23	ribophorin II	This gene encodes a type I integral membrane protein found only in the rough endoplasmic reticulum. The encoded protein is part of an N-oligosaccharyl transferase complex that links high mannose oligosaccharides to asparagine residues found in the Asn-X-Ser/Thr consensus motif of nascent polypeptide chains. This protein is similar in sequence to the yeast oligosaccharyl transferase subunit SWP1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
RPP14	chr3	58306247	58324695	+	ENSG00000163684.11	protein_coding	P14	3p14.3	ribonuclease P/MRP subunit p14	This gene encodes a subunit of ribonuclease P and has 3 to 5 exoribonuclease activity. Transcripts for this gene are bicistronic and include a conserved downstream open reading frame for the hydroxyacyl-thioester dehydratase type 2 (HTD2) gene. [provided by RefSeq, May 2017]
RPP21	chr6	30345131	30346884	+	ENSG00000241370.5	protein_coding	C6orf135|CAT60	6p22.1	ribonuclease P/MRP subunit p21	RPP21 is a protein subunit of nuclear ribonuclease P, which processes the 5-prime leader sequence of precursor tRNAs (Jarrous et al., 2001 [PubMed 11497433]).[supplied by OMIM, Jan 2009]
RPP25	chr15	74954416	74957464	-	ENSG00000178718.6	protein_coding	-	15q24.2	ribonuclease P and MRP subunit p25	-
RPP25L	chr9	34610486	34612104	-	ENSG00000164967.9	protein_coding	C9orf23|bA296L22.5	9p13.3	ribonuclease P/MRP subunit p25 like	This gene encodes a protein that appears to belong to a family of evolutionarily related proteins (DUF78), that may share one or more domains in common. Members of this family are small archaebacterial proteins with no known function. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
RPP30	chr10	90871716	90908553	+	ENSG00000148688.13	protein_coding	TSG15	10q23.31	ribonuclease P/MRP subunit p30	Ubiquitous expression in testis (RPKM 4.1), lymph node (RPKM 2.7) and 25 other tissues
RPP40	chr6	4994732	5004063	-	ENSG00000124787.13	protein_coding	RNASEP1|bA428J1.3	6p25.1	ribonuclease P/MRP subunit p40	Ubiquitous expression in adrenal (RPKM 3.2), testis (RPKM 2.4) and 25 other tissues
RPPH1	chr14	20343048	20343685	-	ENSG00000259001.3	antisense	H1RNA|RPPH1-1	14q11.2	ribonuclease P RNA component H1	H1RNA is the RNA component of the RNase P ribonucleoprotein, an endoribonuclease that cleaves tRNA precursor molecules to form the mature 5-prime termini of their tRNA sequences (Baer et al., 1989 [PubMed 2308839]).[supplied by OMIM, Mar 2008]
RPRD1A	chr18	35984387	36067576	-	ENSG00000141425.17	protein_coding	HsT3101|P15RS	18q12.2	regulation of nuclear pre-mRNA domain containing 1A	This gene encodes a cell-cycle and transcription regulatory protein. The encoded protein interacts with the cell cycle inhibitor cyclin-dependent kinase 4 inhibitor B and may function as a negative regulator of G(1)/S phase progression. This protein also forms homo- and hetrodimers with the protein, regulation of nuclear pre-mRNA domain-containing protein 1B, to form a scaffold that interacts with the C-terminal domain of RNA polymerase II subunit B1 and regulates several aspects of transcription. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Dec 2014]
RPRD1B	chr20	38033546	38127780	+	ENSG00000101413.11	protein_coding	C20orf77|CREPT|K-H|Kub5-Hera|NET60|dJ1057B20.2	20q11.23	regulation of nuclear pre-mRNA domain containing 1B	Ubiquitous expression in bone marrow (RPKM 7.4), lymph node (RPKM 7.2) and 25 other tissues
RPRD2	chr1	150363091	150476566	+	ENSG00000163125.15	protein_coding	HSPC099|KIAA0460	1q21.2	regulation of nuclear pre-mRNA domain containing 2	Ubiquitous expression in thyroid (RPKM 11.1), ovary (RPKM 10.9) and 25 other tissues
RPRML	chr17	46978156	46979248	-	ENSG00000179673.4	protein_coding	-	17q21.32	reprimo like	-
RPS10	chr6	34417454	34426125	-	ENSG00000124614.13	protein_coding	DBA9|S10	6p21.31	ribosomal protein S10	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternate splicing results in multiple transcript variants that encode the same protein. Naturally occurring read-through transcription occurs between this locus and the neighboring locus NUDT3 (nudix (nucleoside diphosphate linked moiety X)-type motif 3).[provided by RefSeq, Feb 2011]
RPS10P3	chr9	88016300	88016793	+	ENSG00000217716.3	processed_pseudogene	RPS10_10_994	9q22.1	ribosomal protein S10 pseudogene 3	-
RPS11	chr19	49496365	49499689	+	ENSG00000142534.6	protein_coding	S11	19q13.33	ribosomal protein S11	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S17P family of ribosomal proteins that is a component of the 40S subunit. This gene is co-transcribed with the small nucleolar RNA gene U35B, which is located in the third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. [provided by RefSeq, Jul 2012]
RPS11P5	chr12	132825701	132826184	+	ENSG00000232888.4	processed_pseudogene	RPS11_3_1298	12q24.33	ribosomal protein S11 pseudogene 5	-
RPS11P6	chr12	64222337	64397065	+	ENSG00000243024.6	transcribed_processed_pseudogene	RPS11_2_1249	12q14.2	ribosomal protein S11 pseudogene 6	-
RPS12	chr6	132814441	132817564	+	ENSG00000112306.7	protein_coding	S12	6q23.2	ribosomal protein S12	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S12E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal cancers compared to matched normal colonic mucosa has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPS12P20	chr11	72708186	72708565	+	ENSG00000244134.1	processed_pseudogene	RPS12_10_1153	11q13.4	ribosomal protein S12 pseudogene 20	-
RPS12P26	chr15	90206572	90206967	+	ENSG00000225193.5	transcribed_processed_pseudogene	RPS12_12_1461	15q26.1	ribosomal protein S12 pseudogene 26	-
RPS13	chr11	17074389	17077787	-	ENSG00000110700.6	protein_coding	S13	11p15.1	ribosomal protein S13	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S15P family of ribosomal proteins. It is located in the cytoplasm. The protein has been shown to bind to the 5.8S rRNA in rat. The gene product of the E. coli ortholog (ribosomal protein S15) functions at early steps in ribosome assembly. This gene is co-transcribed with two U14 small nucleolar RNA genes, which are located in its third and fifth introns. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPS14	chr5	150443190	150449756	-	ENSG00000164587.11	protein_coding	EMTB|S14	5q33.1	ribosomal protein S14	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S11P family of ribosomal proteins. It is located in the cytoplasm. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. In Chinese hamster ovary cells, mutations in this gene can lead to resistance to emetine, a protein synthesis inhibitor. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
RPS14P3	chr1	 19607807	19608644	+	-	pseudogene	RPS14_1_16	1p36.13	ribosomal protein S14 pseudogene 3	-
RPS15	chr19	1438358	1440494	+	ENSG00000115268.9	protein_coding	RIG|S15	19p13.3	ribosomal protein S15	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19P family of ribosomal proteins. It is located in the cytoplasm. This gene has been found to be activated in various tumors, such as insulinomas, esophageal cancers, and colon cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
RPS15A	chr16	18781295	18790383	-	ENSG00000134419.15	protein_coding	DBA20|S15a	16p12.3	ribosomal protein S15a	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPS15AP1	chr20	21166206	21166596	-	ENSG00000214535.3	processed_pseudogene	RPS15A_24_1692|dJ872K7.6	20p11.23	ribosomal protein S15a pseudogene 1	-
RPS15AP10	chr1	45645816	45646197	-	ENSG00000225447.1	processed_pseudogene	RPS15A_4_42	1p34.1	ribosomal protein S15a pseudogene 10	-
RPS15AP16	chr3	128798841	128799201	-	ENSG00000239483.1	processed_pseudogene	RPS15A_7_402	3q21.3	ribosomal protein S15a pseudogene 16	-
RPS15AP30	chr10	112987476	112987865	+	ENSG00000227560.1	processed_pseudogene	RPS15A_8_1098	10q25.2	ribosomal protein S15a pseudogene 30	-
RPS15AP38	chr22	36421273	36421644	-	ENSG00000237668.1	processed_pseudogene	RPS15A_25_1749	22q12.3	ribosomal protein S15a pseudogene 38	-
RPS15AP6	chr1	21003550	21003934	-	ENSG00000233072.1	processed_pseudogene	RPS15A_1_18	1p36.12	ribosomal protein S15a pseudogene 6	-
RPS16	chr19	39433207	39435948	-	ENSG00000105193.8	protein_coding	S16	19q13.2	ribosomal protein S16	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S9P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPS16P9	chr19	45332698	45333124	-	ENSG00000242675.1	processed_pseudogene	RPS16_5_1659	19q13.32	ribosomal protein S16 pseudogene 9	-
RPS17	chr15	82536753	82540564	-	ENSG00000182774.10	protein_coding	DBA4|RPS17L|RPS17L1|RPS17L2|S17	15q25.2	ribosomal protein S17	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S17E family of ribosomal proteins and is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia 4. Alternative splicing of this gene results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Apr 2014]
RPS17P1	chr6	29489271	29489676	-	ENSG00000213900.2	processed_pseudogene	RPS17_3_674|RPS17p|dJ994E9.1	6p22.1	ribosomal protein S17 pseudogene 1	-
RPS17P15	chr11	111105547	111105895	-	ENSG00000239354.1	processed_pseudogene	RPS17_7_1173	11q23.1	ribosomal protein S17 pseudogene 15	-
RPS18	chr6	33272010	33276510	+	ENSG00000231500.6	protein_coding	D6S218E|HKE3|KE-3|KE3|S18	6p21.32	ribosomal protein S18	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S13P family of ribosomal proteins. It is located in the cytoplasm. The gene product of the E. coli ortholog (ribosomal protein S13) is involved in the binding of fMet-tRNA, and thus, in the initiation of translation. This gene is an ortholog of mouse Ke3. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPS19	chr19	41859918	41872926	+	ENSG00000105372.6	protein_coding	DBA|DBA1|LOH19CR1|S19|eS19	19q13.2	ribosomal protein S19	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPS19BP1	chr22	39529093	39532855	-	ENSG00000187051.8	protein_coding	AROS|S19BP	22q13.1	ribosomal protein S19 binding protein 1	Ubiquitous expression in kidney (RPKM 26.6), prostate (RPKM 24.3) and 25 other tissues
RPS2	chr16	1962052	1964860	-	ENSG00000140988.15	protein_coding	LLREP3|S2	16p13.3	ribosomal protein S2	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S5P family of ribosomal proteins. It is located in the cytoplasm. This gene shares sequence similarity with mouse LLRep3. It is co-transcribed with the small nucleolar RNA gene U64, which is located in its third intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPS20	chr8	56067295	56074581	-	ENSG00000008988.9	protein_coding	S20|uS10	8q12.1	ribosomal protein S20	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10P family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the small nucleolar RNA gene U54, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Apr 2009]
RPS20P21	chr8	73982125	73982467	+	ENSG00000244295.2	processed_pseudogene	RPS20_12_916	8q21.11	ribosomal protein S20 pseudogene 21	-
RPS20P22	chr8	38434347	38435664	-	ENSG00000239218.2	transcribed_processed_pseudogene	RPS20_8_895	8p11.23	ribosomal protein S20 pseudogene 22	-
RPS20P31	chr12	120247460	120247791	+	ENSG00000240925.1	processed_pseudogene	RPS20_15_1287	12q24.23	ribosomal protein S20 pseudogene 31	-
RPS20P35	chr17	38855314	38855670	+	ENSG00000244086.1	processed_pseudogene	RPS20_18_1544	17q12	ribosomal protein S20 pseudogene 35	-
RPS20P4	chr5	150021567	150021921	-	ENSG00000241907.1	processed_pseudogene	RPS20B|RPS20_6_627	5q32	ribosomal protein S20 pseudogene 4	-
RPS21	chr20	62387116	62388520	+	ENSG00000171858.17	protein_coding	HLDF|S21	20q13.33	ribosomal protein S21	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S21E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants that encode different protein isoforms have been described, but their existence has not been verified. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPS23	chr5	82273358	82278577	-	ENSG00000186468.12	protein_coding	BTDD|MABAS|MCINS|PAMAS|S23|uS12	5q14.2	ribosomal protein S23	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S12P family of ribosomal proteins. It is located in the cytoplasm. The protein shares significant amino acid similarity with S. cerevisiae ribosomal protein S28. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPS23P10	chr1	161536571	161538158	-	ENSG00000224203.2	unprocessed_pseudogene	-	1q23.3	ribosomal protein S23 pseudogene 10	-
RPS24	chr10	78033760	78056812	+	ENSG00000138326.18	protein_coding	DBA3|S24|eS24	10q22.3	ribosomal protein S24	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S24E family of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia. [provided by RefSeq, Nov 2008]
RPS25	chr11	119015712	119018691	-	ENSG00000118181.10	protein_coding	S25	11q23.3	ribosomal protein S25	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S25E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPS26	chr12	56041853	56044675	+	ENSG00000197728.9	protein_coding	DBA10|S26|eS26	12q13.2	ribosomal protein S26	This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. Mutations in this gene are found in Diamond-Blackfan anemia 10. There are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Aug 2017]
RPS26P45	chr12	69422656	69422995	+	ENSG00000241765.2	processed_pseudogene	RPS26_17_1256	12q15	ribosomal protein S26 pseudogene 45	-
RPS26P8	chr17	45608571	45608918	+	ENSG00000204652.6	processed_pseudogene	RPS26_20_1551	17q21.31	ribosomal protein S26 pseudogene 8	-
RPS27	chr1	153990759	153992150	+	ENSG00000177954.11	protein_coding	DBA17|MPS-1|MPS1|S27	1q21.3	ribosomal protein S27	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S27e family of ribosomal proteins and component of the 40S subunit. The encoded protein contains a C4-type zinc finger domain that can bind to zinc and may bind to nucleic acid. Mutations in this gene have been identified in numerous melanoma patients and in at least one patient with Diamond-Blackfan anemia (DBA). Elevated expression of this gene has been observed in various human cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2018]
RPS27A	chr2	55231903	55235853	+	ENSG00000143947.13	protein_coding	CEP80|HEL112|S27A|UBA80|UBC|UBCEP1|UBCEP80	2p16.1	ribosomal protein S27a	Ubiquitin, a highly conserved protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome, is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein S27a at the C terminus. When expressed in yeast, the protein is post-translationally processed, generating free ubiquitin monomer and ribosomal protein S27a. Ribosomal protein S27a is a component of the 40S subunit of the ribosome and belongs to the S27AE family of ribosomal proteins. It contains C4-type zinc finger domains and is located in the cytoplasm. Pseudogenes derived from this gene are present in the genome. As with ribosomal protein S27a, ribosomal protein L40 is also synthesized as a fusion protein with ubiquitin; similarly, ribosomal protein S30 is synthesized as a fusion protein with the ubiquitin-like protein fubi. Multiple alternatively spliced transcript variants that encode the same proteins have been identified.[provided by RefSeq, Sep 2008]
RPS27AP2	chr20	17516843	17517307	+	ENSG00000232333.1	processed_pseudogene	RPS27A_7_1686|dJ531H16.4	20p12.1	RPS27A pseudogene 2	-
RPS27AP6	chr1	150881236	150881683	-	ENSG00000224800.1	processed_pseudogene	RPS27A_1_97	1q21.3	RPS27A pseudogene 6	-
RPS27L	chr15	63125872	63158021	-	ENSG00000185088.13	protein_coding	-	15q22.2	ribosomal protein S27 like	Ubiquitous expression in colon (RPKM 73.0), kidney (RPKM 50.8) and 25 other tissues
RPS27P25	chr12	120369440	120371688	+	ENSG00000239881.1	transcribed_processed_pseudogene	RPS27_14_1288	12q24.31	ribosomal protein S27 pseudogene 25	-
RPS28	chr19	8321158	8323340	+	ENSG00000233927.4	protein_coding	DBA15|S28|eS28	19p13.2	ribosomal protein S28	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S28E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPS29	chr14	49570984	49599164	-	ENSG00000213741.9	protein_coding	DBA13|S29|uS14	14q21.3	ribosomal protein S29	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit and a member of the S14P family of ribosomal proteins. The protein, which contains a C2-C2 zinc finger-like domain that can bind to zinc, can enhance the tumor suppressor activity of Ras-related protein 1A (KREV1). It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
RPS29P12	chr5	180945756	180945907	+	ENSG00000243664.1	processed_pseudogene	RPS29_9_646	5q35.3	ribosomal protein S29 pseudogene 12	-
RPS29P5	chr1	175921975	175922145	+	ENSG00000230777.1	processed_pseudogene	RPS29_4_130	1q25.1	ribosomal protein S29 pseudogene 5	-
RPS2P1	chr20	34122470	34123290	+	ENSG00000225246.1	processed_pseudogene	RPS2_26_1696|dJ64K7.1	20q11.22	ribosomal protein S2 pseudogene 1	-
RPS2P28	chr6	43363479	43364219	+	ENSG00000179157.4	processed_pseudogene	RPS2_13_694	6p21.1	ribosomal protein S2 pseudogene 28	-
RPS2P32	chr7	23490473	23491364	+	ENSG00000232818.2	processed_pseudogene	RPS2_14_794	7p15.3	ribosomal protein S2 pseudogene 32	-
RPS2P36	chr10	96620877	96621707	-	ENSG00000227032.1	processed_pseudogene	RPS2_13_1085	10q24.1	ribosomal protein S2 pseudogene 36	-
RPS2P4	chr14	104835997	104836852	-	ENSG00000196183.5	processed_pseudogene	RPS2_20_1415	14q32.33	ribosomal protein S2 pseudogene 4	-
RPS2P45	chr16	69033675	69036042	+	ENSG00000244378.1	transcribed_processed_pseudogene	RPS2_21_1492	16q22.1	ribosomal protein S2 pseudogene 45	-
RPS3	chr11	75399486	75422280	+	ENSG00000149273.14	protein_coding	S3	11q13.4	ribosomal protein S3	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit, where it forms part of the domain where translation is initiated. The protein belongs to the S3P family of ribosomal proteins. Studies of the mouse and rat proteins have demonstrated that the protein has an extraribosomal role as an endonuclease involved in the repair of UV-induced DNA damage. The protein appears to be located in both the cytoplasm and nucleus but not in the nucleolus. Higher levels of expression of this gene in colon adenocarcinomas and adenomatous polyps compared to adjacent normal colonic mucosa have been observed. This gene is co-transcribed with the small nucleolar RNA genes U15A and U15B, which are located in its first and fifth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
RPS3A	chr4	151099573	151104652	+	ENSG00000145425.9	protein_coding	FTE1|MFTL|S3A	4q31.3	ribosomal protein S3A	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S3AE family of ribosomal proteins. It is located in the cytoplasm. Disruption of the gene encoding rat ribosomal protein S3a, also named v-fos transformation effector protein, in v-fos-transformed rat cells results in reversion of the transformed phenotype. This gene is co-transcribed with the U73A and U73B small nucleolar RNA genes, which are located in its fourth and third introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]
RPS3AP2	chr16	1477830	1478583	+	ENSG00000219027.2	processed_pseudogene	RPS3A_21_1466	16p13.3	RPS3A pseudogene 2	-
RPS3AP22	chr5	88381957	88382725	+	ENSG00000240083.2	processed_pseudogene	RPS3A_9_594	5q14.3	RPS3A pseudogene 22	-
RPS3AP25	chr7	94695027	94695819	-	ENSG00000232385.2	processed_pseudogene	RPS3A_9_820	7q21.3	RPS3A pseudogene 25	-
RPS3AP3	chr20	37021743	37021984	-	ENSG00000231241.1	processed_pseudogene	bA332A4.2	20q11.23	RPS3A pseudogene 3	-
RPS3AP34	chr8	12570350	12571130	-	ENSG00000242607.1	processed_pseudogene	RPS3A_15_876	8p23.1	RPS3A pseudogene 34	-
RPS3AP47	chr15	43115702	43116493	-	ENSG00000205871.5	processed_pseudogene	RPS3A_22_1428	15q15.2	RPS3A pseudogene 47	-
RPS3AP54	chr9	6662424	6663792	+	ENSG00000229057.1	processed_pseudogene	-	9p24.1	RPS3A pseudogene 54	-
RPS4XP11	chr10	32102522	32103293	-	ENSG00000234335.1	processed_pseudogene	RPS4P11|RPS4X_2_1029	10p11.22	ribosomal protein S4X pseudogene 11	-
RPS4XP17	chr17	656794	657547	-	ENSG00000244097.1	processed_pseudogene	RPS4P17|RPS4X_7_1505	17p13.3	ribosomal protein S4X pseudogene 17	-
RPS4XP18	chr18	22586465	22587227	+	ENSG00000239490.1	processed_pseudogene	RPS4P18|RPS4X_10_1587	18q11.2	ribosomal protein S4X pseudogene 18	-
RPS4XP6	chr5	37085056	37085852	+	ENSG00000244073.1	processed_pseudogene	RPS4P6|RPS4X_2_555	5p13.2	ribosomal protein S4X pseudogene 6	-
RPS5	chr19	58386400	58394806	+	ENSG00000083845.8	protein_coding	S5	19q13.43	ribosomal protein S5	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPS6	chr9	19375715	19380254	-	ENSG00000137154.12	protein_coding	S6	9p22.1	ribosomal protein S6	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 40S subunit. The protein belongs to the S6E family of ribosomal proteins. It is the major substrate of protein kinases in the ribosome, with subsets of five C-terminal serine residues phosphorylated by different protein kinases. Phosphorylation is induced by a wide range of stimuli, including growth factors, tumor-promoting agents, and mitogens. Dephosphorylation occurs at growth arrest. The protein may contribute to the control of cell growth and proliferation through the selective translation of particular classes of mRNA. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPS6KA1	chr1	26529761	26575030	+	ENSG00000117676.13	protein_coding	HU-1|MAPKAPK1|MAPKAPK1A|RSK|RSK1|p90Rsk	1p36.11	ribosomal protein S6 kinase A1	This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
RPS6KA2	chr6	166409364	166906451	-	ENSG00000071242.11	protein_coding	HU-2|MAPKAPK1C|RSK|RSK3|S6K-alpha|S6K-alpha2|p90-RSK3|p90RSK2|pp90RSK3	6q27	ribosomal protein S6 kinase A2	This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains two non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternative splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2016]
RPS6KA4	chr11	64359148	64372215	+	ENSG00000162302.12	protein_coding	MSK2|RSK-B|S6K-alpha-4	11q13.1	ribosomal protein S6 kinase A4	This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 non-identical kinase catalytic domains and phosphorylates various substrates, including CREB1 and ATF1. The encoded protein can also phosphorylate histone H3 to regulate certain inflammatory genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
RPS6KA5	chr14	90847862	91060636	-	ENSG00000100784.10	protein_coding	MSK1|MSPK1|RLPK	14q32.11	ribosomal protein S6 kinase A5	Ubiquitous expression in brain (RPKM 2.4), endometrium (RPKM 2.3) and 25 other tissues
RPS6KB1	chr17	59893046	59950564	+	ENSG00000108443.13	protein_coding	PS6K|S6K|S6K-beta-1|S6K1|STK14A|p70 S6KA|p70(S6K)-alpha|p70-S6K|p70-alpha	17q23.1	ribosomal protein S6 kinase B1	This gene encodes a member of the ribosomal S6 kinase family of serine/threonine kinases. The encoded protein responds to mTOR (mammalian target of rapamycin) signaling to promote protein synthesis, cell growth, and cell proliferation. Activity of this gene has been associated with human cancer. Alternatively spliced transcript variants have been observed. The use of alternative translation start sites results in isoforms with longer or shorter N-termini which may differ in their subcellular localizations. There are two pseudogenes for this gene on chromosome 17. [provided by RefSeq, Jan 2013]
RPS6KB2	chr11	67428460	67435408	+	ENSG00000175634.14	protein_coding	KLS|P70-beta|P70-beta-1|P70-beta-2|S6K-beta2|S6K2|S6KB|S6KI(2)|S6Kbeta|SRK|STK14B|p70(S6K)-beta|p70S6Kb	11q13.2	ribosomal protein S6 kinase B2	This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains a kinase catalytic domain and phosphorylates the S6 ribosomal protein and eukaryotic translation initiation factor 4B (eIF4B). Phosphorylation of S6 leads to an increase in protein synthesis and cell proliferation. [provided by RefSeq, Jan 2015]
RPS6KC1	chr1	213051233	213274773	+	ENSG00000136643.11	protein_coding	RPK118|RSKL1|S6K-delta-1|S6PKh1|humS6PKh1	1q32.3	ribosomal protein S6 kinase C1	Sphingosine kinase catalyzes the formation of sphingosine 1 phosphate, a lipid cellular messenger. The protein encoded by this gene can bind to sphingosine kinase and to phosphatidylinositol 3-phosphate, suggesting a role in sphingosine 1 phophate signaling. The encoded protein can also bind to peroxiredoxin-3 and may help transport it to mitochondria. [provided by RefSeq, Mar 2017]
RPS6KL1	chr14	74903954	74923396	-	ENSG00000198208.11	protein_coding	RSKL2	14q24.3	ribosomal protein S6 kinase like 1	Broad expression in brain (RPKM 4.6), testis (RPKM 3.0) and 22 other tissues
RPS6P25	chr19	12894133	12894880	+	ENSG00000240616.1	processed_pseudogene	RPS6_13_1629	19p13.13	ribosomal protein S6 pseudogene 25	-
RPS7P11	chr17	46721582	46722167	-	ENSG00000213326.4	processed_pseudogene	RPS7_6_1552	17q21.31	ribosomal protein S7 pseudogene 11	-
RPS8	chr1	44775251	44778779	+	ENSG00000142937.11	protein_coding	S8	1p34.1	ribosomal protein S8	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal tumors and colon polyps compared to matched normal colonic mucosa has been observed. This gene is co-transcribed with the small nucleolar RNA genes U38A, U38B, U39, and U40, which are located in its fourth, fifth, first, and second introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
RPS9	chr19	54200742	54249003	+	ENSG00000170889.13	protein_coding	S9	19q13.42	ribosomal protein S9	Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S4P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. [provided by RefSeq, Jul 2008]
RPSAP11	chr3	32190747	32191627	+	ENSG00000237433.1	processed_pseudogene	LAMR|LAMR1P11|LAMRL1|LAMRP1|RPSA_9_357	3p22.3	ribosomal protein SA pseudogene 11	-
RPSAP18	chr1	160266340	160267225	-	ENSG00000224261.2	processed_pseudogene	RPSA_4_107	1q23.2	ribosomal protein SA pseudogene 18	-
RPSAP20	chr1	56207567	56208456	-	ENSG00000229871.1	processed_pseudogene	RPSA_1_53	1p32.2	ribosomal protein SA pseudogene 20	-
RPSAP22	chr2	85490930	85491780	-	ENSG00000229648.1	processed_pseudogene	RPSA_5_248	2p11.2	ribosomal protein SA pseudogene 22	-
RPSAP31	chr3	183884924	183888449	+	ENSG00000234371.6	transcribed_processed_pseudogene	RPSA_11_442	3q27.1	ribosomal protein SA pseudogene 31	-
RPSAP5	chr14	103374033	103374916	-	ENSG00000243904.1	processed_pseudogene	LAMR1P5|RPSA_22_1412	14q32.32	ribosomal protein SA pseudogene 5	-
RPSAP52	chr12	65758020	65826997	-	ENSG00000241749.4	transcribed_processed_pseudogene	RPSA_17_1251	12q14.3	ribosomal protein SA pseudogene 52	Low expression observed in reference dataset
RPSAP54	chr13	20961310	20962195	+	ENSG00000213621.3	processed_pseudogene	RPSA_26_1300	13q12.11	ribosomal protein SA pseudogene 54	-
RPSAP70	chr4	186157896	186158843	+	ENSG00000250327.1	processed_pseudogene	-	4q35.1	ribosomal protein SA pseudogene 70	-
RPSAP72	chr6	80470071	80470428	-	ENSG00000219361.1	processed_pseudogene	-	6q14.1	ribosomal protein SA pseudogene 72	-
RPSAP76	chr9	125194649	125195821	-	ENSG00000235332.2	processed_pseudogene	-	9q33.3	ribosomal protein SA pseudogene 76	-
RPSAP9	chr9	76398699	76399586	+	ENSG00000234618.1	processed_pseudogene	LAMR1P9|RPSA_20_986	9q21.13	ribosomal protein SA pseudogene 9	-
RPTOR	chr17	80544819	80966371	+	ENSG00000141564.13	protein_coding	KOG1|Mip1	17q25.3	regulatory associated protein of MTOR complex 1	This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
RPUSD1	chr16	784974	788397	-	ENSG00000007376.7	protein_coding	C16orf40|RLUCL	16p13.3	RNA pseudouridine synthase domain containing 1	Ubiquitous expression in spleen (RPKM 5.2), colon (RPKM 4.3) and 25 other tissues
RPUSD2	chr15	40569300	40574943	+	ENSG00000166133.17	protein_coding	C15orf19|C18B11|PUS9	15q15.1	RNA pseudouridine synthase domain containing 2	Enables pseudouridine synthase activity. Involved in mRNA pseudouridine synthesis. [provided by Alliance of Genome Resources, Apr 2022]
RPUSD4	chr11	126202094	126211692	-	ENSG00000165526.8	protein_coding	-	11q24.2	RNA pseudouridine synthase D4	-
RRAD	chr16	66921679	66925644	-	ENSG00000166592.11	protein_coding	RAD|RAD1|REM3	16q22.1	RRAD, Ras related glycolysis inhibitor and calcium channel regulator	Biased expression in heart (RPKM 57.6), esophagus (RPKM 28.6) and 11 other tissues
RRAGC	chr1	38838198	38859823	-	ENSG00000116954.7	protein_coding	GTR2|RAGC|TIB929	1p34.3	Ras related GTP binding C	This gene encodes a member of the GTR/RAG GTP-binding protein family. The encoded protein is a monomeric guanine nucleotide-binding protein which forms a heterodimer with RRAGA and RRAGB and is primarily localized to the cytoplasm. The encoded protein promotes intracellular localization of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
RRAGD	chr6	89364636	89412270	-	ENSG00000025039.14	protein_coding	RAGD|bA11D8.2.1	6q15	Ras related GTP binding D	RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM, Apr 2004]
RRAS	chr19	49635292	49640201	-	ENSG00000126458.3	protein_coding	R-Ras	19q13.33	RAS related	The protein encoded by this gene is a small GTPase involved in diverse processes including angiogenesis, vascular homeostasis and regeneration, cell adhesion, and neuronal axon guidance. Mutations in this gene are found in many invasive cancers. [provided by RefSeq, Jul 2015]
RRAS2	chr11	14277926	14364506	-	ENSG00000133818.13	protein_coding	NS12|TC21	11p15.2	RAS related 2	This gene encodes a member of the R-Ras subfamily of Ras-like small GTPases. The encoded protein associates with the plasma membrane and may function as a signal transducer. This protein may play an important role in activating signal transduction pathways that control cell proliferation. Mutations in this gene are associated with the growth of certain tumors. Pseudogenes of this gene are found on chromosomes 1 and 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
RRBP1	chr20	17613678	17682295	-	ENSG00000125844.15	protein_coding	ES/130|ES130|RRp|hES|p180	20p12.1	ribosome binding protein 1	This gene encodes a ribosome-binding protein of the endoplasmic reticulum (ER) membrane. Studies suggest that this gene plays a role in ER proliferation, secretory pathways and secretory cell differentiation, and mediation of ER-microtubule interactions. Alternative splicing has been observed and protein isoforms are characterized by regions of N-terminal decapeptide and C-terminal heptad repeats. Splicing of the tandem repeats results in variations in ribosome-binding affinity and secretory function. The full-length nature of variants which differ in repeat length has not been determined. Pseudogenes of this gene have been identified on chromosomes 3 and 7, and RRBP1 has been excluded as a candidate gene in the cause of Alagille syndrome, the result of a mutation in a nearby gene on chromosome 20p12. [provided by RefSeq, Apr 2012]
RREB1	chr6	7107597	7251980	+	ENSG00000124782.19	protein_coding	FINB|HNT|LZ321|RREB-1|Zep-1	6p24.3	ras responsive element binding protein 1	The protein encoded by this gene is a zinc finger transcription factor that binds to RAS-responsive elements (RREs) of gene promoters. It has been shown that the calcitonin gene promoter contains an RRE and that the encoded protein binds there and increases expression of calcitonin, which may be involved in Ras/Raf-mediated cell differentiation. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
RRH	chr4	109827994	109844604	+	ENSG00000180245.4	protein_coding	-	4q25	retinal pigment epithelium-derived rhodopsin homolog	Low expression observed in reference dataset
RRM1	chr11	4094707	4138876	+	ENSG00000167325.14	protein_coding	R1|RIR1|RR1	11p15.4	ribonucleotide reductase catalytic subunit M1	This gene encodes the large and catalytic subunit of ribonucleotide reductase, an enzyme essential for the conversion of ribonucleotides into deoxyribonucleotides. A pool of available deoxyribonucleotides is important for DNA replication during S phase of the cell cycle as well as multiple DNA repair processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
RRM2B	chr8	102204502	102239118	-	ENSG00000048392.11	protein_coding	MTDPS8A|MTDPS8B|P53R2	8q22.3	ribonucleotide reductase regulatory TP53 inducible subunit M2B	This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
RRN3	chr16	15060022	15094317	-	ENSG00000085721.12	protein_coding	A-270G1.2|TIFIA	16p13.11	RRN3 homolog, RNA polymerase I transcription factor	Ubiquitous expression in bone marrow (RPKM 15.3), thyroid (RPKM 14.8) and 25 other tissues
RRN3P3	chr16	22418672	22437715	-	ENSG00000257122.5	transcribed_unprocessed_pseudogene	-	16p12.2	RRN3 pseudogene 3	-
RRP12	chr10	97356358	97426076	-	ENSG00000052749.13	protein_coding	KIAA0690	10q24.1	ribosomal RNA processing 12 homolog	Broad expression in bone marrow (RPKM 30.6), testis (RPKM 10.2) and 25 other tissues
RRP15	chr1	218285287	218337983	+	ENSG00000067533.5	protein_coding	CGI-115|KIAA0507	1q41	ribosomal RNA processing 15 homolog	This gene encodes a protein that co-purifies with human nucleoli. A similar protein in budding yeast is a component of pre-60S ribosomal particles, and is required for the early maturation steps of the 60S subunit. [provided by RefSeq, Jul 2008]
RRP1B	chr21	43659548	43696079	+	ENSG00000160208.12	protein_coding	KIAA0179|NNP1L|Nnp1|PPP1R136|RRP1	21q22.3	ribosomal RNA processing 1B	Ubiquitous expression in lymph node (RPKM 10.6), testis (RPKM 10.3) and 25 other tissues
RRP36	chr6	43021645	43034156	+	ENSG00000124541.6	protein_coding	C6orf153|dJ20C7.4	6p21.1	ribosomal RNA processing 36	RRP36 functions at an early stage in the processing of 35S preribosomal RNA into the mature 18S species (Gerus et al., 2010 [PubMed 20038530]).[supplied by OMIM, Jul 2010]
RRP7A	chr22	42509968	42519802	-	ENSG00000189306.10	protein_coding	BK126B4.3|CGI-96|MCPH28|Rrp7	22q13.2	ribosomal RNA processing 7 homolog A	Ubiquitous expression in ovary (RPKM 9.4), lymph node (RPKM 9.3) and 25 other tissues
RRP7BP	chr22	42555223	42582038	-	ENSG00000182841.12	transcribed_unprocessed_pseudogene	RRP7B|dJ222E13.2	22q13.2	ribosomal RNA processing 7 homolog B, pseudogene	Ubiquitous expression in ovary (RPKM 8.3), prostate (RPKM 8.1) and 25 other tissues
RRP9	chr3	51933430	51941941	-	ENSG00000114767.6	protein_coding	RNU3IP2|U3-55K	3p21.2	ribosomal RNA processing 9, U3 small nucleolar RNA binding protein	This gene encodes a member of the WD-repeat protein family. The encoded protein is a component of the nucleolar small nuclear ribonucleoprotein particle (snoRNP) and is essential for 18s rRNA processing during ribosome synthesis. It contains seven WD domains required for nucleolar localization and specific interaction with the U3 small nucleolar RNA (U3 snoRNA). [provided by RefSeq, Oct 2012]
RSAD1	chr17	50478800	50485975	+	ENSG00000136444.9	protein_coding	HemW	17q21.33	radical S-adenosyl methionine domain containing 1	Ubiquitous expression in adrenal (RPKM 14.5), spleen (RPKM 11.7) and 25 other tissues
RSBN1	chr1	113761832	113812476	-	ENSG00000081019.13	protein_coding	KDM9|ROSBIN	1p13.2	round spermatid basic protein 1	Ubiquitous expression in bone marrow (RPKM 3.0), ovary (RPKM 2.9) and 25 other tissues
RSBN1L	chr7	77696443	77783022	+	ENSG00000187257.15	protein_coding	-	7q11.23	round spermatid basic protein 1 like	-
RSC1A1	chr1	15659869	15661722	+	ENSG00000215695.1	protein_coding	RS1	1p36.21	regulator of solute carriers 1	The protein encoded by this intronless gene inhibits the expression of the solute carrier family 5 (sodium/glucose cotransporter), member 1 gene (SLC5A1) and downregulates exocytosis of the SLC5A1 protein. The encoded protein is sometimes found coating the trans-Golgi network and other times is localized to the nucleus, depending on the cell cycle stage. This protein also inhibits the expression of solute carrier family 22 (organic cation transporter), member 2 (SLC22A2). [provided by RefSeq, Dec 2015]
RSF1	chr11	77659996	77821017	-	ENSG00000048649.13	protein_coding	HBXAP|RSF-1|XAP8|p325	11q14.1	remodeling and spacing factor 1	This gene encodes a nuclear protein that interacts with hepatitis B virus X protein (HBX) and facilitates transcription of hepatitis B virus genes by the HBX transcription activator, suggesting a role for this interaction in the virus life cycle. This protein also interacts with SNF2H protein to form the RSF chromatin-remodeling complex, where the SNF2H subunit functions as the nucleosome-dependent ATPase, and this protein as the histone chaperone. [provided by RefSeq, Sep 2011]
RSKR	chr17	 28607963	28614185	-	ENSG00000167524	protein-coding	SGK494	17q11.2	ribosomal protein S6 kinase related	Broad expression in testis (RPKM 3.9), brain (RPKM 1.9) and 23 other tissues
RSL1D1	chr16	11833850	11851585	-	ENSG00000171490.12	protein_coding	CSIG|L12|PBK1|UTP30	16p13.13	ribosomal L1 domain containing 1	Ubiquitous expression in ovary (RPKM 45.7), lymph node (RPKM 20.2) and 25 other tissues
RSL24D1	chr15	55180806	55197067	-	ENSG00000137876.9	protein_coding	C15orf15|HRP-L30-iso|L30|RLP24|RPL24|RPL24L|TVAS3	15q21.3	ribosomal L24 domain containing 1	This gene encodes a protein sharing a low level of sequence similarity with human ribosomal protein L24. Although this gene has been referred to as RPL24, L30, and 60S ribosomal protein L30 isolog in the sequence databases, it is distinct from the human genes officially named RPL24 (which itself has been referred to as ribosomal protein L30) and RPL30. The protein encoded by this gene localizes to the nucleolus and is thought to play a role in the biogenesis of the 60S ribosomal subunit. The precise function of this gene is currently unknown. This gene utilizes alternative polyadenylation signals and has multiple pseudogenes. [provided by RefSeq, Jul 2012]
RSL24D1P1	chr6	27780619	27781111	-	ENSG00000218069.2	processed_pseudogene	RPL24p|RPL30BP|RSL24D1P|dJ97D16.2	6p22.1	ribosomal L24 domain containing 1 pseudogene 1	-
RSL24D1P6	chr20	32170390	32170790	-	ENSG00000224452.1	processed_pseudogene	RPL24P1|dJ836N17.3	20q11.21	ribosomal L24 domain containing 1 pseudogene 6	-
RSL24D1P8	chr19	12096424	12096915	+	ENSG00000237273.1	processed_pseudogene	-	19p13.2	ribosomal L24 domain containing 1 pseudogene 8	-
RSPH1	chr21	42472486	42496354	-	ENSG00000160188.9	protein_coding	CT79|RSP44|RSPH10A|TSA2|TSGA2	21q22.3	radial spoke head component 1	This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary dyskinesia-24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]
RSPH10B	chr7	5925550	5970683	-	ENSG00000155026.16	protein_coding	-	7p22.1	radial spoke head 10 homolog B	-
RSPH10B2	chr7	6754109	6799365	+	ENSG00000169402.15	protein_coding	-	7p22.1	radial spoke head 10 homolog B2	Restricted expression toward testis (RPKM 17.8)
RSPH3	chr6	158972871	159000187	-	ENSG00000130363.11	protein_coding	CILD32|RSHL2|RSP3|dJ111C20.1	6q25.3	radial spoke head 3	The protein encoded by this gene acts as a protein kinase A anchoring protein. Mutations in this gene cause primary ciliary dyskinesia; a disorder characterized by defects of the axoneme in motile cilia and sperm flagella. The homolog of this gene was first identified in the blue-green algae Chlamydomonas as encoding a radial spoke protein that formed a structural component of motile cilia and flagella. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]
RSPH4A	chr6	116616479	116632985	+	ENSG00000111834.12	protein_coding	CILD11|RSHL3|RSPH6B|dJ412I7.1	6q22.1	radial spoke head component 4A	This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin stalk and a bulbous head that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
RSPH6A	chr19	45795710	45815319	-	ENSG00000104941.7	protein_coding	RSHL1|RSP4|RSP6|RSPH4B	19q13.32	radial spoke head 6 homolog A	The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axonemes outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). [provided by RefSeq, Jul 2008]
RSPH9	chr6	43645046	43672599	+	ENSG00000172426.15	protein_coding	C6orf206|CILD12|MRPS18AL1	6p21.1	radial spoke head component 9	This gene encodes a protein thought to be a component of the radial spoke head in motile cilia and flagella. Mutations in this gene are associated with primary ciliary dyskinesia 12. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
RSPO1	chr1	37611350	37634923	-	ENSG00000169218.13	protein_coding	CRISTIN3|RSPO	1p34.3	R-spondin 1	This gene encodes a secreted activator protein with two cysteine-rich, furin-like domains and one thrombospondin type 1 domain. The encoded protein is a ligand for leucine-rich repeat-containing G-protein coupled receptors (LGR proteins) and positively regulates the Wnt signaling pathway. In mice, the protein induces the rapid onset of crypt cell proliferation and increases intestinal epithelial healing, providing a protective effect against chemotherapy-induced adverse effects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
RSPO2	chr8	107899316	108083648	-	ENSG00000147655.10	protein_coding	CRISTIN2|HHRRD|TETAMS2	8q23.1	R-spondin 2	This gene encodes a member of the R-spondin family of proteins. These proteins are secreted ligands of leucine-rich repeat containing G protein-coupled receptors that enhance Wnt signaling through the inhibition of ubiquitin E3 ligases. A chromosomal translocation including this locus that results in the formation of a gene fusion has been identified in multiple human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
RSPO3	chr6	127118604	127197765	+	ENSG00000146374.13	protein_coding	CRISTIN1|PWTSR|THSD2	6q22.33	R-spondin 3	This gene belongs to the R-spondin family. The encoded protein plays a role in the regulation of Wnt (wingless-type MMTV integration site family)/beta-catenin and Wnt/planar cell polarity (PCP) signaling pathways, which are involved in development, cell growth and disease pathogenesis. Genome-wide association studies suggest a correlation of this gene with bone mineral density and risk of fracture. This gene may be involved in tumor development. [provided by RefSeq, Jul 2013]
RSPRY1	chr16	57186137	57240475	+	ENSG00000159579.13	protein_coding	SEMDFA	16q13	ring finger and SPRY domain containing 1	This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
RSRC1	chr3	158105855	158545730	+	ENSG00000174891.12	protein_coding	BM-011|MRT70|SFRS21|SRrp53	3q25.32	arginine and serine rich coiled-coil 1	This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with schizophrenia. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]
RSRC2	chr12	122503458	122527000	-	ENSG00000111011.17	protein_coding	-	12q24.31	arginine and serine rich coiled-coil 2	-
RSRP1	chr1	25242237	25338213	-	ENSG00000117616.17	protein_coding	C1orf63|NPD014	1p36.11	arginine and serine rich protein 1	Ubiquitous expression in spleen (RPKM 20.3), prostate (RPKM 18.6) and 25 other tissues
RTBDN	chr19	12825478	12835428	-	ENSG00000132026.13	protein_coding	-	19p13.13	retbindin	Biased expression in brain (RPKM 1.6), adrenal (RPKM 0.5) and 2 other tissues
RTCA	chr1	100266207	100292769	+	ENSG00000137996.12	protein_coding	RPC|RTC1|RTCD1	1p21.2	RNA 3'-terminal phosphate cyclase	This gene encodes a member of the RNA 3-phosphate cyclase family. The encoded protein plays a role in RNA metabolism by catalyzing the ATP-dependent conversion of the 3-phosphate of RNA substrates to a 2,3-cyclic phosphodiester. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
RTEL1	chr20	63657810	63696253	+	ENSG00000258366.7	protein_coding	C20orf41|DKCA4|DKCB5|NHL|PFBMFT3|RTEL	20q13.33	regulator of telomere elongation helicase 1	This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]
RTF1	chr15	41408408	41483563	+	ENSG00000137815.14	protein_coding	GTL7|KIAA0252	15q15.1	RTF1 homolog, Paf1/RNA polymerase II complex component	This locus may represent a gene involved in regulation of transcription elongation and chromatin remodeling, based on studies of similar proteins in other organisms. The encoded protein may bind single-stranded DNA. [provided by RefSeq, Sep 2010]
RTF2	chr20	 56468627	56519449	+	ENSG00000022277	protein-coding	C20orf43|CDAO5|HSPC164|RTFDC1|SHUJUN-3	20q13.31	replication termination factor 2	Ubiquitous expression in brain (RPKM 40.3), bone marrow (RPKM 39.0) and 25 other tissues
RTKN2	chr10	62183035	62268707	-	ENSG00000182010.10	protein_coding	PLEKHK1|bA531F24.1	10q21.2	rhotekin 2	Biased expression in lung (RPKM 32.1) and testis (RPKM 2.2)
RTL3	chrX	 78656068	78659328	-	ENSG00000179300	protein-coding	Mar3|Mart3|SIRH9|ZCCHC5|ZHC5	Xq21.1	retrotransposon Gag like 3	This gene is a member of a family of gag-related retrotransposon genes. These genes appear to have lost the ability to retrotranspose; however, their open reading frames have remained intact, which may indicate that these genes have acquired new functions in the cell. [provided by RefSeq, Nov 2009]
RTL5	chrX	 72127110	72131915	-	ENSG00000242732	protein-coding	6430402L03Rik|MAR5|MART5|RGAG4|SIRH8	Xq13.1	retrotransposon Gag like 5	Broad expression in brain (RPKM 6.6), testis (RPKM 6.2) and 24 other tissues
RTL6	chr22	 44492583	44498233	-	ENSG00000188636	protein-coding	LDOC1L|Mar6|Mart6|SIRH3|dJ1033E15.2	22q13.31	retrotransposon Gag like 6	Ubiquitous expression in brain (RPKM 18.2), ovary (RPKM 11.8) and 25 other tissues
RTL8C	chrX	 135032355	135033546	+	ENSG00000134590	protein-coding	CXX1|FAM127A|MAR8C|MART8C|Mar8|Mart8|SIRH5	Xq26.3	retrotransposon Gag like 8C	-
RTN1	chr14	59595976	59870966	-	ENSG00000139970.16	protein_coding	NSP	14q23.1	reticulon 1	This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. This gene is considered to be a specific marker for neurological diseases and cancer, and is a potential molecular target for therapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]
RTN2	chr19	45485289	45497061	-	ENSG00000125744.11	protein_coding	NSP2|NSPL1|NSPLI|SPG12	19q13.32	reticulon 2	This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. Reticulon proteins also play an important role in the replication of positive-strand RNA (ssRNA) viruses. Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12. [provided by RefSeq, Aug 2020]
RTN3	chr11	63681446	63759891	+	ENSG00000133318.13	protein_coding	ASYIP|HAP|NSPL2|NSPLII|RTN3-A1	11q13.1	reticulon 3	This gene belongs to the reticulon family of highly conserved genes that are preferentially expressed in neuroendocrine tissues. This family of proteins interact with, and modulate the activity of beta-amyloid converting enzyme 1 (BACE1), and the production of amyloid-beta. An increase in the expression of any reticulon protein substantially reduces the production of amyloid-beta, suggesting that reticulon proteins are negative modulators of BACE1 in cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, and pseudogenes of this gene are located on chromosomes 4 and 12. [provided by RefSeq, May 2012]
RTN4	chr2	54972187	55112621	-	ENSG00000115310.17	protein_coding	ASY|NI220/250|NOGO|NSP|NSP-CL|Nbla00271|Nbla10545|RTN-X|RTN4-A|RTN4-B1|RTN4-B2|RTN4-C	2p16.1	reticulon 4	This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. The product of this gene is a potent neurite outgrowth inhibitor which may also help block the regeneration of the central nervous system in higher vertebrates. Alternatively spliced transcript variants derived both from differential splicing and differential promoter usage and encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
RTN4IP1	chr6	106571971	106629487	-	ENSG00000130347.12	protein_coding	NIMP|OPA10	6q21	reticulon 4 interacting protein 1	This gene encodes a mitochondrial protein that interacts with reticulon 4, which is a potent inhibitor of regeneration following spinal cord injury. This interaction may be important for reticulon-induced inhibition of neurite growth. Mutations in this gene can cause optic atrophy 10, with or without ataxia, cognitive disability, and seizures. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
RTN4RL1	chr17	1934677	2025345	-	ENSG00000185924.6	protein_coding	NGRH2|NgR3	17p13.3	reticulon 4 receptor like 1	Broad expression in brain (RPKM 5.0), fat (RPKM 3.0) and 14 other tissues
RTN4RL2	chr11	57460549	57477534	+	ENSG00000186907.7	protein_coding	NGRH1|NgR2	11q12.1	reticulon 4 receptor like 2	Biased expression in brain (RPKM 9.9), thyroid (RPKM 5.5) and 6 other tissues
RTP2	chr3	187698259	187702557	-	ENSG00000198471.1	protein_coding	Z3CXXC2	3q27.3	receptor transporter protein 2	Low expression observed in reference dataset
RTP3	chr3	46497491	46500949	+	ENSG00000163825.3	protein_coding	LTM1|TMEM7|Z3CXXC3	3p21.31	receptor transporter protein 3	Restricted expression toward liver (RPKM 19.8)
RTP4	chr3	187368332	187372076	+	ENSG00000136514.2	protein_coding	IFRG28|Z3CXXC4	3q27.3	receptor transporter protein 4	Ubiquitous expression in urinary bladder (RPKM 8.4), duodenum (RPKM 6.0) and 25 other tissues
RTP5	chr2	241869600	241873823	+	ENSG00000188011.5	protein_coding	C2orf85|CXXC11|Z3CXXC5	2q37.3	receptor transporter protein 5 (putative)	Biased expression in brain (RPKM 2.7), lymph node (RPKM 0.5) and 3 other tissues
RUBCN	chr3	197671393	197749727	-	ENSG00000145016.15	protein_coding	KIAA0226|RUBICON|SCAR15	3q29	rubicon autophagy regulator	The protein encoded by this gene is a negative regulator of autophagy and endocytic trafficking and controls endosome maturation. This protein contains two conserved domains, an N-terminal RUN domain and a C-terminal DUF4206 domain. The RUN domain is involved in Ras-like GTPase signaling, and the DUF4206 domain contains a diacylglycerol (DAG) binding-like motif. Mutation in this gene results in deletion of the DAG binding-like motif and causes a recessive ataxia. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
RUBCNL	chr13	46342000	46438190	-	ENSG00000102445.18	protein_coding	C13orf18|KIAA0226L|PACER	13q14.13	rubicon like autophagy enhancer	This gene encodes a cysteine-rich protein that contains a putative zinc-RING and/or ribbon domain. The encoded protein is related to Run domain Beclin-1-interacting and cysteine-rich domain-containing protein, which plays a role in endocytic trafficking and autophagy. In cervical cancer cell lines, this gene is expressed at low levels and may function as a tumor suppressor. Promoter hypermethylation of this gene is observed in cervical cancer cell lines and tissue derived from human patients. [provided by RefSeq, Mar 2017]
RUFY1	chr5	179550558	179610026	+	ENSG00000176783.14	protein_coding	RABIP4|ZFYVE12	5q35.3	RUN and FYVE domain containing 1	This gene encodes a protein that contains a RUN domain and a FYVE-type zinc finger domain. The encoded protein binds to phosphatidylinositol-3-phosphate (PI3P) and plays a role in early endosomal trafficking, tethering and fusion through interactions with small GTPases including Rab4, Rab5 and Rab14. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
RUFY2	chr10	68341107	68407294	-	ENSG00000204130.12	protein_coding	RABIP4R|ZFYVE13	10q21.3	RUN and FYVE domain containing 2	Ubiquitous expression in brain (RPKM 7.8), endometrium (RPKM 4.7) and 25 other tissues
RUFY3	chr4	70704204	70807315	+	ENSG00000018189.12	protein_coding	RIPX|SINGAR1|ZFYVE30	4q13.3	RUN and FYVE domain containing 3	This gene encodes a RPIP8, UNC-14, and NESCA domain-containing protein that is required for maintenance of neuronal polarity. In addition, it has been implicated in mediation of gastric cancer cell migration and invasion via interaction with P21-activated kinase-1, which promotes its expression. The encoded protein localizes to F-actin-enriched invadopodia to induce formation of protrusions, thereby facilitating cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
RUFY4	chr2	218034960	218090581	+	ENSG00000188282.12	protein_coding	ZFYVE31	2q35	RUN and FYVE domain containing 4	Broad expression in spleen (RPKM 1.0), lymph node (RPKM 0.6) and 16 other tissues
RUNDC1	chr17	42980565	42993690	+	ENSG00000198863.7	protein_coding	RUND1	17q21.31	RUN domain containing 1	This gene encodes a protein that contains a RUN (RPIP8, UNC-14 and NESCA) domain and a coiled coil domain. The encoded protein may negatively regulate p53 transcriptional activity. This gene is a potential candidate gene for predisposition to glioma in humans. [provided by RefSeq, May 2017]
RUNDC3A	chr17	44308413	44318671	+	ENSG00000108309.13	protein_coding	RAP2IP|RPIP-8|RPIP8	17q21.31	RUN domain containing 3A	Biased expression in brain (RPKM 51.0), adrenal (RPKM 6.3) and 1 other tissue
RUNDC3A-AS1	chr17	44299574	44315315	-	ENSG00000267750.5	antisense	-	17q21.31	RUNDC3A antisense RNA 1	-
RUNDC3B	chr7	87627548	87832296	+	ENSG00000105784.15	protein_coding	RPIB9|RPIP9	7q21.12	RUN domain containing 3B	Broad expression in adrenal (RPKM 7.8), brain (RPKM 4.9) and 16 other tissues
RUNX1	chr21	34787801	36004667	-	ENSG00000159216.18	protein_coding	AML1|AML1-EVI-1|AMLCR1|CBF2alpha|CBFA2|EVI-1|PEBP2aB|PEBP2alpha	21q22.12	RUNX family transcription factor 1	Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
RUNX1T1	chr8	91954967	92103286	-	ENSG00000079102.16	protein_coding	AML1-MTG8|AML1T1|CBFA2T1|CDR|ETO|MTG8|ZMYND2	8q21.3	RUNX1 partner transcriptional co-repressor 1	This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5-region of the runt-related transcription factor 1 gene fused to the 3-region of this gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
RUNX2	chr6	45328157	45664349	+	ENSG00000124813.20	protein_coding	AML3|CBF-alpha-1|CBFA1|CCD|CCD1|CLCD|OSF-2|OSF2|PEA2aA|PEBP2aA	6p21.1	RUNX family transcription factor 2	This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Two regions of potential trinucleotide repeat expansions are present in the N-terminal region of the encoded protein, and these and other mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2016]
RUNX3	chr1	24899511	24965121	-	ENSG00000020633.18	protein_coding	AML2|CBFA3|PEBP2aC	1p36.11	RUNX family transcription factor 3	This gene encodes a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5-PYGPYGGT-3 found in a number of enhancers and promoters, and can either activate or suppress transcription. It also interacts with other transcription factors. It functions as a tumor suppressor, and the gene is frequently deleted or transcriptionally silenced in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
RUSC1	chr1	155320896	155331114	+	ENSG00000160753.15	protein_coding	NESCA	1q22	RUN and SH3 domain containing 1	Ubiquitous expression in brain (RPKM 8.6), prostate (RPKM 6.2) and 25 other tissues
RUSC1-AS1	chr1	155316863	155324176	-	ENSG00000225855.6	antisense	C1orf104	1q22	RUSC1 antisense RNA 1	Ubiquitous expression in liver (RPKM 11.7), duodenum (RPKM 11.0) and 25 other tissues
RUSF1	chr16	 31489475	31508391	-	ENSG00000140688	protein-coding	C16orf58|RUS	16p11.2	RUS family member 1	-
RUVBL1	chr3	128064778	128153914	-	ENSG00000175792.11	protein_coding	ECP-54|ECP54|INO80H|NMP 238|NMP238|PONTIN|Pontin52|RVB1|TIH1|TIP49|TIP49A	3q21.3	RuvB like AAA ATPase 1	This gene encodes a protein that has both DNA-dependent ATPase and DNA helicase activities and belongs to the ATPases associated with diverse cellular activities (AAA+) protein family. The encoded protein associates with several multisubunit transcriptional complexes and with protein complexes involved in both ATP-dependent remodeling and histone modification. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
RUVBL2	chr19	48993448	49015995	+	ENSG00000183207.13	protein_coding	CGI-46|ECP-51|ECP51|INO80J|REPTIN|RVB2|TAP54-beta|TIH2|TIP48|TIP49B	19q13.33	RuvB like AAA ATPase 2	This gene encodes the second human homologue of the bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. Functional analysis showed that this gene product has both ATPase and DNA helicase activities. This gene is physically linked to the CGB/LHB gene cluster on chromosome 19q13.3, and is very close (55 nt) to the LHB gene, in the opposite orientation. [provided by RefSeq, Jul 2008]
RWDD1	chr6	116571367	116597675	+	ENSG00000111832.12	protein_coding	CGI-24|PTD013	6q22.1	RWD domain containing 1	Ubiquitous expression in fat (RPKM 22.0), adrenal (RPKM 19.3) and 25 other tissues
RWDD2A	chr6	83193379	83198932	+	ENSG00000013392.7	protein_coding	RWDD2|dJ747H23.2	6q14.1	RWD domain containing 2A	Broad expression in prostate (RPKM 6.9), testis (RPKM 5.4) and 24 other tissues
RWDD2B	chr21	29004384	29019378	-	ENSG00000156253.6	protein_coding	C21orf6|GL011	21q21.3	RWD domain containing 2B	Ubiquitous expression in testis (RPKM 9.4), prostate (RPKM 8.5) and 25 other tissues
RWDD3	chr1	95234155	95247225	+	ENSG00000122481.16	protein_coding	RSUME	1p21.3	RWD domain containing 3	Ubiquitous expression in prostate (RPKM 8.1), endometrium (RPKM 7.8) and 25 other tissues
RWDD4P1	chr7	105301522	105302086	+	ENSG00000244490.1	processed_pseudogene	FAM28BP	7q22.3	RWD domain containing 4 pseudogene 1	-
RXFP2	chr13	31739542	31803388	+	ENSG00000133105.7	protein_coding	GPR106|GREAT|INSL3R|LGR8|LGR8.1|RXFPR2	13q13.1	relaxin family peptide receptor 2	This gene encodes a member of the GPCR (G protein-coupled, 7-transmembrane receptor) family. Mutations in this gene are associated with cryptorchidism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
RXFP4	chr1	155941710	155942949	+	ENSG00000173080.5	protein_coding	GPCR142|GPR100|RLN3R2|RXFPR4	1q22	relaxin family peptide/INSL5 receptor 4	GPR100 is a member of the rhodopsin family of G protein-coupled receptors (GPRs) (Fredriksson et al., 2003 [PubMed 14623098]).[supplied by OMIM, Mar 2008]
RXRA	chr9	134317098	134440585	+	ENSG00000186350.9	protein_coding	NR2B1	9q34.2	retinoid X receptor alpha	Retinoid X receptors (RXRs) and retinoic acid receptors (RARs) are nuclear receptors that mediate the biological effects of retinoids by their involvement in retinoic acid-mediated gene activation. These receptors function as transcription factors by binding as homodimers or heterodimers to specific sequences in the promoters of target genes. The protein encoded by this gene is a member of the steroid and thyroid hormone receptor superfamily of transcriptional regulators. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
RXRB	chr6	33193588	33200688	-	ENSG00000204231.10	protein_coding	DAUDI6|H-2RIIBP|NR2B2|RCoR-1	6p21.32	retinoid X receptor beta	This gene encodes a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the effects of retinoic acid (RA). The encoded protein forms homodimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. This gene lies within the major histocompatibility complex (MHC) class II region on chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
RXRG	chr1	165400917	165445355	-	ENSG00000143171.12	protein_coding	NR2B3|RXRC	1q23.3	retinoid X receptor gamma	This gene encodes a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the antiproliferative effects of retinoic acid (RA). This receptor forms dimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. This gene is expressed at significantly lower levels in non-small cell lung cancer cells. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010]
RXYLT1	chr12	 63779909	63809562	+	ENSG00000118600	protein-coding	HP10481|MDDGA10|TMEM5	12q14.2	ribitol xylosyltransferase 1	This gene encodes a type II transmembrane protein that is thought to have glycosyltransferase function. Mutations in this gene result in cobblestone lissencephaly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
RYBP	chr3	72371825	72446621	-	ENSG00000163602.10	protein_coding	AAP1|APAP-1|DEDAF|YEAF1	3p13	RING1 and YY1 binding protein	Annotation category: suggests misassembly
RYK	chr3	134065303	134250744	-	ENSG00000163785.12	protein_coding	D3S3195|JTK5|JTK5A|RYK1	3q22.2	receptor like tyrosine kinase	The protein encoded by this gene is an atypical member of the family of growth factor receptor protein tyrosine kinases, differing from other members at a number of conserved residues in the activation and nucleotide binding domains. This gene product belongs to a subfamily whose members do not appear to be regulated by phosphorylation in the activation segment. It has been suggested that mediation of biological activity by recruitment of a signaling-competent auxiliary protein may occur through an as yet uncharacterized mechanism. The encoded protein has a leucine-rich extracellular domain with a WIF-type Wnt binding region, a single transmembrane domain, and an intracellular tyrosine kinase domain. This protein is involved in stimulating Wnt signaling pathways such as the regulation of axon pathfinding. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]
RYKP1	chr17	4222091	4223828	+	ENSG00000263219.1	processed_pseudogene	JTK5|JTK5B|RYKL1|RYKP	17p13.2	RYK pseudogene 1	-
RYR1	chr19	38433699	38587564	+	ENSG00000196218.12	protein_coding	CCO|KDS|MHS|MHS1|PPP1R137|RYDR|RYR|RYR-1|SKRR	19q13.2	ryanodine receptor 1	This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
S100A1	chr1	153627926	153632039	+	ENSG00000160678.11	protein_coding	S100|S100-alpha|S100A	1q21.3	S100 calcium binding protein A1	The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in stimulation of Ca2+-induced Ca2+ release, inhibition of microtubule assembly, and inhibition of protein kinase C-mediated phosphorylation. Reduced expression of this protein has been implicated in cardiomyopathies. [provided by RefSeq, Jul 2008]
S100A10	chr1	151982915	151994390	-	ENSG00000197747.8	protein_coding	42C|ANX2L|ANX2LG|CAL1L|CLP11|Ca[1]|GP11|P11|p10	1q21.3	S100 calcium binding protein A10	The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in exocytosis and endocytosis. [provided by RefSeq, Jul 2008]
S100A11	chr1	152032506	152047907	-	ENSG00000163191.5	protein_coding	HEL-S-43|MLN70|S100C	1q21.3	S100 calcium binding protein A11	The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. [provided by RefSeq, Jul 2008]
S100A12	chr1	153373706	153375649	-	ENSG00000163221.8	protein_coding	CAAF1|CAGC|CGRP|ENRAGE|MRP-6|MRP6|p6	1q21.3	S100 calcium binding protein A12	The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is proposed to be involved in specific calcium-dependent signal transduction pathways and its regulatory effect on cytoskeletal components may modulate various neutrophil activities. The protein includes an antimicrobial peptide which has antibacterial activity. [provided by RefSeq, Nov 2014]
S100A13	chr1	153618787	153631360	-	ENSG00000189171.14	protein_coding	-	1q21.3	S100 calcium binding protein A13	Broad expression in heart (RPKM 156.8), fat (RPKM 39.4) and 16 other tissues
S100A14	chr1	153614255	153616986	-	ENSG00000189334.8	protein_coding	BCMP84|S100A15	1q21.3	S100 calcium binding protein A14	This gene encodes a member of the S100 protein family which contains an EF-hand motif and binds calcium. The gene is located in a cluster of S100 genes on chromosome 1. Levels of the encoded protein have been found to be lower in cancerous tissue and associated with metastasis suggesting a tumor suppressor function (PMID: 19956863, 19351828). [provided by RefSeq, Dec 2011]
S100A16	chr1	153606886	153613145	-	ENSG00000188643.10	protein_coding	AAG13|DT1P1A7|S100F	1q21.3	S100 calcium binding protein A16	Biased expression in esophagus (RPKM 418.9), skin (RPKM 89.4) and 13 other tissues
S100A2	chr1	153561108	153567890	-	ENSG00000196754.10	protein_coding	CAN19|S100L	1q21.3	S100 calcium binding protein A2	The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may have a tumor suppressor function. Chromosomal rearrangements and altered expression of this gene have been implicated in breast cancer. [provided by RefSeq, Jul 2008]
S100A3	chr1	153547329	153549372	-	ENSG00000188015.9	protein_coding	S100E	1q21.3	S100 calcium binding protein A3	The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein has the highest content of cysteines of all S100 proteins, has a high affinity for Zinc, and is highly expressed in human hair cuticle. The precise function of this protein is unknown. [provided by RefSeq, Jul 2008]
S100A4	chr1	153543613	153550136	-	ENSG00000196154.11	protein_coding	18A2|42A|CAPL|FSP1|MTS1|P9KA|PEL98	1q21.3	S100 calcium binding protein A4	The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
S100A7	chr1	153457744	153460701	-	ENSG00000143556.8	protein_coding	PSOR1|S100A7c	1q21.3	S100 calcium binding protein A7	The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein differs from the other S100 proteins of known structure in its lack of calcium binding ability in one EF-hand at the N-terminus. The protein is overexpressed in hyperproliferative skin diseases, exhibits antimicrobial activities against bacteria and induces immunomodulatory activities. [provided by RefSeq, Nov 2014]
S100A7A	chr1	153416524	153423225	+	ENSG00000184330.11	protein_coding	NICE-2|NICE2|S100A15|S100A7L1|S100A7f	1q21.3	S100 calcium binding protein A7A	Low expression observed in reference dataset
S100A8	chr1	153390032	153391188	-	ENSG00000143546.9	protein_coding	60B8AG|CAGA|CFAG|CGLA|CP-10|L1Ag|MA387|MIF|MRP8|NIF|P8|S100-A8	1q21.3	S100 calcium binding protein A8	The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and as a cytokine. Altered expression of this protein is associated with the disease cystic fibrosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
S100A9	chr1	153357854	153361027	+	ENSG00000163220.10	protein_coding	60B8AG|CAGB|CFAG|CGLB|L1AG|LIAG|MAC387|MIF|MRP14|NIF|P14|S100-A9	1q21.3	S100 calcium binding protein A9	The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in the inhibition of casein kinase and altered expression of this protein is associated with the disease cystic fibrosis. This antimicrobial protein exhibits antifungal and antibacterial activity. [provided by RefSeq, Nov 2014]
S100B	chr21	46598962	46605208	-	ENSG00000160307.9	protein_coding	NEF|S100|S100-B|S100beta	21q22.3	S100 calcium binding protein B	The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 21q22.3. This protein may function in Neurite extension, proliferation of melanoma cells, stimulation of Ca2+ fluxes, inhibition of PKC-mediated phosphorylation, astrocytosis and axonal proliferation, and inhibition of microtubule assembly. Chromosomal rearrangements and altered expression of this gene have been implicated in several neurological, neoplastic, and other types of diseases, including Alzheimers disease, Downs syndrome, epilepsy, amyotrophic lateral sclerosis, melanoma, and type I diabetes. [provided by RefSeq, Jul 2008]
S100P	chr4	6693069	6697170	+	ENSG00000163993.6	protein_coding	MIG9	4p16.1	S100 calcium binding protein P	The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 4p16. This protein, in addition to binding Ca2+, also binds Zn2+ and Mg2+. This protein may play a role in the etiology of prostate cancer. [provided by RefSeq, Jul 2008]
S100PBP	chr1	32816767	32858879	+	ENSG00000116497.17	protein_coding	S100PBPR	1p35.1	S100P binding protein	This gene encodes a protein that was originally identified by its interaction with S100 calcium-binding protein P. Expression of this protein has been reported to be associated with pancreatic ductal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
S100Z	chr5	76850001	76921650	+	ENSG00000171643.13	protein_coding	Gm625|S100-zeta	5q13.3	S100 calcium binding protein Z	Members of the S100 protein family contain 2 calcium-binding EF-hands and exhibit cell-type specific expression patterns. For additional background information on S100 proteins, see MIM 114085.[supplied by OMIM, Mar 2008]
S1PR1	chr1	101236888	101241518	+	ENSG00000170989.8	protein_coding	CD363|CHEDG1|D1S3362|ECGF1|EDG-1|EDG1|S1P1	1p21.2	sphingosine-1-phosphate receptor 1	The protein encoded by this gene is structurally similar to G protein-coupled receptors and is highly expressed in endothelial cells. It binds the ligand sphingosine-1-phosphate with high affinity and high specificity, and suggested to be involved in the processes that regulate the differentiation of endothelial cells. Activation of this receptor induces cell-cell adhesion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
S1PR2	chr19	10221435	10231272	-	ENSG00000267534.2	protein_coding	AGR16|DFNB68|EDG-5|EDG5|Gpcr13|H218|LPB2|S1P2	19p13.2	sphingosine-1-phosphate receptor 2	This gene encodes a member of the G protein-coupled receptors, as well as the EDG family of proteins. The encoded protein is a receptor for sphingosine 1-phosphate, which participates in cell proliferation, survival, and transcriptional activation. Defects in this gene have been associated with congenital profound deafness. [provided by RefSeq, Mar 2016]
S1PR3	chr9	88991447	89005010	+	ENSG00000213694.3	protein_coding	C9orf108|C9orf47|EDG-3|EDG3|LPB3|S1P3|bA791O21.3	9q22.1	sphingosine-1-phosphate receptor 3	This gene encodes a member of the EDG family of receptors, which are G protein-coupled receptors. This protein has been identified as a functional receptor for sphingosine 1-phosphate and likely contributes to the regulation of angiogenesis and vascular endothelial cell function. [provided by RefSeq, Jul 2008]
S1PR4	chr19	3172346	3180332	+	ENSG00000125910.5	protein_coding	EDG6|LPC1|S1P4|SLP4	19p13.3	sphingosine-1-phosphate receptor 4	This gene is a member of the endothelial differentiation, G-protein-coupled (EDG)) receptor gene family. EDG receptors bind lysophospholipids or lysosphingolipids as ligands, and are involved in cell signalling in many different cell types. This EDG receptor gene is intronless and is specifically expressed in the lymphoid tissue. [provided by RefSeq, Jul 2008]
S1PR5	chr19	10512742	10517931	-	ENSG00000180739.13	protein_coding	EDG8|Edg-8|S1P5|SPPR-1|SPPR-2	19p13.2	sphingosine-1-phosphate receptor 5	The lysosphingolipid sphingosine 1-phosphate (S1P) regulates cell proliferation, apoptosis, motility, and neurite retraction. Its actions may be both intracellular as a second messenger and extracellular as a receptor ligand. S1P and the structurally related lysolipid mediator lysophosphatidic acid (LPA) signal cells through a set of G protein-coupled receptors known as EDG receptors. Some EDG receptors (e.g., EDG1; MIM 601974) are S1P receptors; others (e.g., EDG2; MIM 602282) are LPA receptors.[supplied by OMIM, Mar 2008]
SAA1	chr11	18266174	18269977	+	ENSG00000173432.10	protein_coding	PIG4|SAA|SAA2|TP53I4	11p15.1	serum amyloid A1	This gene encodes a member of the serum amyloid A family of apolipoproteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a major acute phase protein that is highly expressed in response to inflammation and tissue injury. This protein also plays an important role in HDL metabolism and cholesterol homeostasis. High levels of this protein are associated with chronic inflammatory diseases including atherosclerosis, rheumatoid arthritis, Alzheimers disease and Crohns disease. This protein may also be a potential biomarker for certain tumors. Finally, antimicrobial activity against S. aureus and E. coli resides in the N-terminal portion of the mature protein. Alternate splicing results in multiple transcript variants that encode the same protein. A pseudogene of this gene is found on chromosome 11. [provided by RefSeq, Jul 2020]
SAA2	chr11	18239223	18248643	-	ENSG00000134339.8	protein_coding	SAA|SAA1	11p15.1	serum amyloid A2	This gene encodes a member of the serum amyloid A family of apolipoproteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a major acute phase protein that is highly expressed in response to inflammation and tissue injury. This protein also plays an important role in HDL metabolism and cholesterol homeostasis. High levels of this protein are associated with chronic inflammatory diseases including atherosclerosis, rheumatoid arthritis, Alzheimers disease and Crohns disease. This protein may also be a potential biomarker for certain tumors. Finally, antimicrobial activity against S. aureus and E. coli resides in the N-terminal portion of the mature protein. [provided by RefSeq, Jul 2020]
SAA4	chr11	18231349	18236893	-	ENSG00000148965.9	protein_coding	C-SAA|CSAA	11p15.1	serum amyloid A4, constitutive	Restricted expression toward liver (RPKM 339.3)
SAAL1	chr11	18069935	18106091	-	ENSG00000166788.9	protein_coding	SPACIA1	11p15.1	serum amyloid A like 1	Ubiquitous expression in testis (RPKM 8.1), lymph node (RPKM 7.2) and 25 other tissues
SAC3D1	chr11	65040901	65044828	+	ENSG00000168061.14	protein_coding	HSU79266|SHD1	11q13.1	SAC3 domain containing 1	Broad expression in testis (RPKM 7.3), colon (RPKM 3.1) and 23 other tissues
SACM1L	chr3	45689056	45745424	+	ENSG00000211456.10	protein_coding	SAC1	3p21.31	SAC1 like phosphatidylinositide phosphatase	This gene encodes an integral membrane protein, which is localized to the endoplasmic reticulum, and functions as a phosphoinositide phosphatase that hydrolyzes phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, and phosphatidylinositol 3,5-bisphosphate. Deletion of this gene in mouse results in preimplantation lethality. Other studies suggest that this gene is also involved in the organization of golgi membranes and mitotic spindles. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame, downstream translation termination codon via a stop codon readthrough mechanism.[provided by RefSeq, Dec 2017]
SAE1	chr19	47113274	47210636	+	ENSG00000142230.11	protein_coding	AOS1|HSPC140|SUA1|UBLE1A	19q13.32	SUMO1 activating enzyme subunit 1	Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]
SAFB	chr19	5623035	5668478	+	ENSG00000160633.12	protein_coding	HAP|HET|SAB-B1|SAF-B|SAF-B1|SAFB1	19p13.3	scaffold attachment factor B	This gene encodes a DNA-binding protein which has high specificity for scaffold or matrix attachment region DNA elements (S/MAR DNA). This protein is thought to be involved in attaching the base of chromatin loops to the nuclear matrix but there is conflicting evidence as to whether this protein is a component of chromatin or a nuclear matrix protein. Scaffold attachment factors are a specific subset of nuclear matrix proteins (NMP) that specifically bind to S/MAR. The encoded protein is thought to serve as a molecular base to assemble a transcriptosome complex in the vicinity of actively transcribed genes. It is involved in the regulation of heat shock protein 27 transcription, can act as an estrogen receptor co-repressor and is a candidate for breast tumorigenesis. This gene is arranged head-to-head with a similar gene whose product has the same functions. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]
SAFB2	chr19	5586999	5624046	-	ENSG00000130254.11	protein_coding	-	19p13.3	scaffold attachment factor B2	Ubiquitous expression in kidney (RPKM 19.8), spleen (RPKM 18.1) and 25 other tissues
SAG	chr2	233307816	233347055	+	ENSG00000130561.16	protein_coding	RP47|S-AG	2q37.1	S-antigen visual arrestin	Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. [provided by RefSeq, Jul 2008]
SALL1	chr16	51135975	51151367	-	ENSG00000103449.11	protein_coding	HEL-S-89|HSAL1|Sal-1|TBS|ZNF794	16q12.1	spalt like transcription factor 1	The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
SALL2	chr14	21521081	21537216	-	ENSG00000165821.11	protein_coding	COLB|HSAL2|Sal-2|ZNF795|p150(Sal2)	14q11.2	spalt like transcription factor 2	This gene encodes a protein containing multiple zinc finger domains. The encoded protein functions in optical fissure closure during development of the eye in the embryo. Mutations in this gene are associated with ocular coloboma. [provided by RefSeq, Jul 2016]
SALL4	chr20	51782331	51802520	-	ENSG00000101115.12	protein_coding	DRRS|HSAL4|IVIC|ZNF797	20q13.2	spalt like transcription factor 4	This gene encodes a zinc finger transcription factor thought to play a role in the development of abducens motor neurons. Defects in this gene are a cause of Duane-radial ray syndrome (DRRS). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
SALL4P7	chr14	60493766	60496885	-	ENSG00000258692.2	transcribed_processed_pseudogene	-	14q23.1	spalt like transcription factor 4 pseudogene 7	-
SALRNA1	chr14	60639216	60642589	+	ENSG00000258952.2	lincRNA	SAL-RNA1|XLOC_023166	14q23.1	senescence associated long non-coding RNA 1	-
SAMD1	chr19	14087840	14091036	-	ENSG00000141858.11	protein_coding	-	19p13.12	sterile alpha motif domain containing 1	Annotation category: partial on reference assembly
SAMD10	chr20	63974113	63980008	-	ENSG00000130590.13	protein_coding	C20orf136|dJ591C20|dJ591C20.7	20q13.33	sterile alpha motif domain containing 10	Ubiquitous expression in lymph node (RPKM 2.3), stomach (RPKM 1.9) and 24 other tissues
SAMD11	chr1	923928	944581	+	ENSG00000187634.11	protein_coding	MRS	1p36.33	sterile alpha motif domain containing 11	Ubiquitous expression in prostate (RPKM 7.4), endometrium (RPKM 5.9) and 25 other tissues
SAMD11P1	chr17	2613284	2613944	-	ENSG00000262480.2	processed_pseudogene	-	17p13.3	sterile alpha motif domain containing 11 pseudogene 1	-
SAMD12	chr8	118189459	118621995	-	ENSG00000177570.13	protein_coding	-	8q24.11-q24.12	sterile alpha motif domain containing 12	-
SAMD14	chr17	50110040	50129882	-	ENSG00000167100.14	protein_coding	-	17q21.33	sterile alpha motif domain containing 14	-
SAMD15	chr14	77376689	77391497	+	ENSG00000100583.4	protein_coding	C14orf174|FAM15A	14q24.3	sterile alpha motif domain containing 15	Biased expression in testis (RPKM 14.6), thyroid (RPKM 2.9) and 2 other tissues
SAMD3	chr6	130144315	130365425	-	ENSG00000164483.16	protein_coding	-	6q23.1	sterile alpha motif domain containing 3	-
SAMD4A	chr14	54567097	54793315	+	ENSG00000020577.13	protein_coding	SAMD4|SMAUG|SMAUG1|SMG|SMGA	14q22.2	sterile alpha motif domain containing 4A	Sterile alpha motifs (SAMs) in proteins such as SAMD4A are part of an RNA-binding domain that functions as a posttranscriptional regulator by binding to an RNA sequence motif known as the Smaug recognition element, which was named after the Drosophila Smaug protein (Baez and Boccaccio, 2005 [PubMed 16221671]).[supplied by OMIM, Mar 2008]
SAMD4B	chr19	39342396	39385710	+	ENSG00000179134.15	protein_coding	SMGB|Smaug2	19q13.2	sterile alpha motif domain containing 4B	Ubiquitous expression in testis (RPKM 7.6), ovary (RPKM 7.3) and 25 other tissues
SAMD5	chr6	147508927	147737547	+	ENSG00000203727.3	protein_coding	dJ875H10.1	6q24.3	sterile alpha motif domain containing 5	Broad expression in placenta (RPKM 5.1), colon (RPKM 4.2) and 21 other tissues
SAMD8	chr10	75099586	75182123	+	ENSG00000156671.12	protein_coding	HEL-177|SMSr	10q22.2	sterile alpha motif domain containing 8	Ubiquitous expression in brain (RPKM 15.2), testis (RPKM 8.3) and 24 other tissues
SAMD9	chr7	93099513	93118023	-	ENSG00000205413.7	protein_coding	C7orf5|DRIF1|M7MLS2|MIRAGE|NFTC|OEF1|OEF2	7q21.2	sterile alpha motif domain containing 9	This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jul 2010]
SAMD9L	chr7	93130055	93148369	-	ENSG00000177409.11	protein_coding	ATXPC|C7orf6|DRIF2|M7MLS1|UEF1	7q21.2	sterile alpha motif domain containing 9 like	This gene encodes a cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occurring mutations in this gene are associated with myeloid disorders such as juvenile myelomonocytic leukemia, acute myeloid leukemia, and myelodysplastic syndrome. Naturally occurring mutations are also associated with hepatitis-B related hepatocellular carcinoma, normophosphatemic familial tumoral calcinosis, and ataxia-pancytopenia syndrome. [provided by RefSeq, Apr 2017]
SAMHD1	chr20	36890229	36951843	-	ENSG00000101347.8	protein_coding	CHBL2|DCIP|HDDC1|MOP-5|SBBI88|hSAMHD1	20q11.23	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	This gene may play a role in regulation of the innate immune response. The encoded protein is upregulated in response to viral infection and may be involved in mediation of tumor necrosis factor-alpha proinflammatory responses. Mutations in this gene have been associated with Aicardi-Goutieres syndrome. [provided by RefSeq, Mar 2010]
SAMM50	chr22	43955421	44010531	+	ENSG00000100347.14	protein_coding	CGI-51|OMP85|SAM50|TOB55|TRG-3|YNL026W	22q13.31	SAMM50 sorting and assembly machinery component	This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochondrial membrane.[provided by RefSeq, Jun 2011]
SAMSN1	chr21	14485228	14583402	-	ENSG00000155307.17	protein_coding	HACS1|NASH1|SASH2|SH3D6B|SLy2	21q11.2	SAM domain, SH3 domain and nuclear localization signals 1	SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM, Mar 2008]
SANBR	chr2	 61065871	61138032	+	ENSG00000162929	protein-coding	KIAA1841	2p15	SANT and BTB domain regulator of CSR	-
SAP130	chr2	127941217	128028120	-	ENSG00000136715.17	protein_coding	-	2q14.3	Sin3A associated protein 130	Broad expression in testis (RPKM 33.8), bone marrow (RPKM 7.4) and 24 other tissues
SAP18	chr13	21140514	21149084	+	ENSG00000150459.12	protein_coding	2HOR0202|SAP18P	13q12.11	Sin3A associated protein 18	Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP30, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This protein directly interacts with SIN3 and enhances SIN3-mediated transcriptional repression when tethered to the promoter. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Dec 2008]
SAP25	chr7	100572228	100573820	-	ENSG00000205307.11	protein_coding	-	7q22.1	Sin3A associated protein 25	-
SAP30	chr4	173369969	173377532	+	ENSG00000164105.3	protein_coding	-	4q34.1	Sin3A associated protein 30	Ubiquitous expression in testis (RPKM 10.9), stomach (RPKM 8.8) and 25 other tissues
SAP30BP	chr17	75667116	75708062	+	ENSG00000161526.14	protein_coding	HCNGP|HTRG|HTRP	17q25.1	SAP30 binding protein	Ubiquitous expression in bone marrow (RPKM 20.7), brain (RPKM 12.2) and 25 other tissues
SAP30L	chr5	154445957	154461054	+	ENSG00000164576.11	protein_coding	NS4ATP2	5q33.2	SAP30 like	Ubiquitous expression in ovary (RPKM 11.8), endometrium (RPKM 9.2) and 25 other tissues
SAPCD1	chr6	31762799	31764851	+	ENSG00000228727.8	protein_coding	C6orf26|NG23	6p21.33	suppressor APC domain containing 1	Ubiquitous expression in skin (RPKM 10.2), bone marrow (RPKM 6.0) and 24 other tissues
SAPCD1-AS1	chr6	31764310	31765588	-	ENSG00000235663.1	antisense	C6orf26-AS1	6p21.33	SAPCD1 antisense RNA 1	Ubiquitous expression in skin (RPKM 10.6), kidney (RPKM 5.9) and 24 other tissues
SAPCD2	chr9	137062124	137070588	-	ENSG00000186193.8	protein_coding	C9orf140|p42.3	9q34.3	suppressor APC domain containing 2	Broad expression in brain (RPKM 4.5), colon (RPKM 2.8) and 17 other tissues
SAPCD2P3	chr7	66556216	66557065	+	ENSG00000232491.1	processed_pseudogene	-	7q11.21	suppressor APC domain containing 2 pseudogene 3	-
SAR1A	chr10	70147289	70170523	-	ENSG00000079332.14	protein_coding	SAR1|SARA1|Sara|masra2	10q22.1	secretion associated Ras related GTPase 1A	Ubiquitous expression in fat (RPKM 47.2), placenta (RPKM 41.9) and 25 other tissues
SAR1AP1	chr6	 29074407	29077241	-	-	pseudogene	SAR1P1|SARAP|SARAP1|dJ88J8.3|hsSARA-p	6p22.1	secretion associated Ras related GTPase 1A pseudogene 1	-
SAR1B	chr5	134601144	134649271	-	ENSG00000152700.13	protein_coding	ANDD|CMRD|GTBPB|SARA2	5q31.1	secretion associated Ras related GTPase 1B	The protein encoded by this gene is a small GTPase that acts as a homodimer. The encoded protein is activated by the guanine nucleotide exchange factor PREB and is involved in protein transport from the endoplasmic reticulum to the Golgi. This protein is part of the COPII coat complex. Defects in this gene are a cause of chylomicron retention disease (CMRD), also known as Anderson disease (ANDD). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]
SARAF	chr8	30063012	30083208	-	ENSG00000133872.13	protein_coding	FOAP-7|HSPC035|TMEM66|XTP3	8p12	store-operated calcium entry associated regulatory factor	Ubiquitous expression in brain (RPKM 148.3), adrenal (RPKM 121.7) and 25 other tissues
SARM1	chr17	28364356	28404049	+	ENSG00000004139.13	protein_coding	HsTIR|MyD88-5|SAMD2|SARM|hSARM1	17q11.2	sterile alpha and TIR motif containing 1	Ubiquitous expression in duodenum (RPKM 30.5), small intestine (RPKM 14.6) and 23 other tissues
SARNP	chr12	55752463	55817756	-	ENSG00000205323.8	protein_coding	CIP29|HCC1|HSPC316|THO1	12q13.2	SAP domain containing ribonucleoprotein	This gene encodes a protein that is upregulated in response to various cytokines. The encoded protein may play a role in cell cycle progression. A translocation between this gene and the myeloid/lymphoid leukemia gene, resulting in expression of a chimeric protein, has been associated with acute myelomonocytic leukemia. Pseudogenes exist on chromosomes 7 and 8. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
SARS1	chr1	 109213893	109238182	+	ENSG00000031698	protein-coding	NEDMAS|SARS|SERRS|SERS	1p13.3	seryl-tRNA synthetase 1	This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. Multiple alternatively spliced transcript variants have been described but the biological validity of all variants is unknown. [provided by RefSeq, Jul 2010]
SARS2	chr19	38915266	38930896	-	ENSG00000104835.14	protein_coding	SARS|SARSM|SERS|SYS|SerRS|SerRSmt|mtSerRS	19q13.2	seryl-tRNA synthetase 2, mitochondrial	This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]
SART1	chr11	65961689	65979828	+	ENSG00000175467.14	protein_coding	Ara1|HAF|HOMS1|SART1259|SNRNP110|Snu66	11q13.1	spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP	This gene encodes two proteins, the SART1(800) protein expressed in the nucleus of the majority of proliferating cells, and the SART1(259) protein expressed in the cytosol of epithelial cancers. The SART1(259) protein is translated by the mechanism of -1 frameshifting during posttranscriptional regulation; its full-length sequence is not published yet. The two encoded proteins are thought to be involved in the regulation of proliferation. Both proteins have tumor-rejection antigens. The SART1(259) protein possesses tumor epitopes capable of inducing HLA-A2402-restricted cytotoxic T lymphocytes in cancer patients. This SART1(259) antigen may be useful in specific immunotherapy for cancer patients and may serve as a paradigmatic tool for the diagnosis and treatment of patients with atopy. The SART1(259) protein is found to be essential for the recruitment of the tri-snRNP to the pre-spliceosome in the spliceosome assembly pathway. [provided by RefSeq, Jul 2008]
SAT2	chr17	7626234	7627876	-	ENSG00000141504.11	protein_coding	SSAT-2|SSAT2	17p13.1	spermidine/spermine N1-acetyltransferase family member 2	Ubiquitous expression in kidney (RPKM 97.2), duodenum (RPKM 89.6) and 25 other tissues
SATB1	chr3	18345387	18445588	-	ENSG00000182568.16	protein_coding	DEFDA|KTZSL	3p24.3	SATB homeobox 1	This gene encodes a matrix protein which binds nuclear matrix and scaffold-associating DNAs through a unique nuclear architecture. The protein recruits chromatin-remodeling factors in order to regulate chromatin structure and gene expression. [provided by RefSeq, Apr 2016]
SATB2	chr2	199269500	199471266	-	ENSG00000119042.16	protein_coding	GLSS	2q33.1	SATB homeobox 2	This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and cognitive disability. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Feb 2010]
SAV1	chr14	50632058	50668331	-	ENSG00000151748.14	protein_coding	SAV|WW45|WWP4	14q22.1	salvador family WW domain containing protein 1	WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein with two WW domains, a SARAH domain, and a coiled-coil region and is ubiquitously expressed in adult tissues. This protein binds to MST1 (mammalian sterile 20-like kinase 1) and promotes MST1-induced apoptosis. It has also been shown to bind to HAX1 (hematopoietic cell-specific protein 1 (HS1)-associated protein X-1) and to attenuate the anti-apoptotic effects of HAX1. Studies in human and mouse suggest this gene acts as a tumor suppressor. [provided by RefSeq, Aug 2012]
SAXO1	chr9	18927658	19049354	-	ENSG00000155875.13	protein_coding	C9orf138|FAM154A	9p22.1	stabilizer of axonemal microtubules 1	Restricted expression toward testis (RPKM 15.1)
SAXO2	chr15	82262810	82284930	+	ENSG00000188659.9	protein_coding	FAM154B	15q25.2	stabilizer of axonemal microtubules 2	Biased expression in lung (RPKM 3.6), testis (RPKM 1.5) and 13 other tissues
SAYSD1	chr6	39104064	39115189	-	ENSG00000112167.9	protein_coding	C6orf64	6p21.2	SAYSVFN motif domain containing 1	Broad expression in testis (RPKM 17.8), thyroid (RPKM 3.3) and 24 other tissues
SBDS	chr7	66987677	66995601	-	ENSG00000126524.9	protein_coding	CGI-97|SDO1|SDS|SWDS	7q11.21	SBDS ribosome maturation factor	This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017]
SBDSP1	chr7	72829425	72836701	+	ENSG00000225648.5	transcribed_unprocessed_pseudogene	SBDSP	7q11.23	SBDS pseudogene 1	Ubiquitous expression in thyroid (RPKM 21.2), bone marrow (RPKM 18.8) and 25 other tissues
SBF1	chr22	50445000	50475024	-	ENSG00000100241.20	protein_coding	CMT4B3|DENND7A|MTMR5	22q13.33	SET binding factor 1	This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]
SBF2	chr11	9778667	10294207	-	ENSG00000133812.15	protein_coding	CMT4B2|DENND7B|MTMR13	11p15.4	SET binding factor 2	This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]
SBF2-AS1	chr11	9758292	9811319	+	ENSG00000246273.6	antisense	-	11p15.4	SBF2 antisense RNA 1	-
SBK1	chr16	28292519	28323849	+	ENSG00000188322.4	protein_coding	SBK	16p12.1	SH3 domain binding kinase 1	Broad expression in brain (RPKM 3.9), prostate (RPKM 1.1) and 16 other tissues
SBK3	chr19	55540656	55545543	-	ENSG00000231274.5	protein_coding	SGK110	19q13.42	SH3 domain binding kinase family member 3	Predicted to enable protein serine/threonine kinase activity. Predicted to be involved in protein phosphorylation. [provided by Alliance of Genome Resources, Apr 2022]
SBNO1	chr12	123289109	123364843	-	ENSG00000139697.13	protein_coding	MOP3|Sno	12q24.31	strawberry notch homolog 1	Broad expression in testis (RPKM 27.6), thyroid (RPKM 6.9) and 23 other tissues
SBNO2	chr19	1107636	1174283	-	ENSG00000064932.15	protein_coding	KIAA0963|SNO|STNO	19p13.3	strawberry notch homolog 2	Ubiquitous expression in appendix (RPKM 17.5), spleen (RPKM 13.1) and 25 other tissues
SC5D	chr11	121292453	121308694	+	ENSG00000109929.9	protein_coding	ERG3|S5DES|SC5DL	11q23.3-q24.1	sterol-C5-desaturase	This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
SCAANT1	chr3	63911518	63911772	-	ENSG00000280620.1	antisense	ATXN7-AS1	3p14.1	SCA7/ATXN7 antisense RNA 1	-
SCAF1	chr19	49642125	49658642	+	ENSG00000126461.14	protein_coding	SRA1	19q13.33	SR-related CTD associated factor 1	Ubiquitous expression in fat (RPKM 11.1), brain (RPKM 11.1) and 25 other tissues
SCAF11	chr12	45919131	45992120	-	ENSG00000139218.17	protein_coding	CASP11|SFRS2IP|SIP1|SRRP129|SRSF2IP	12q12	SR-related CTD associated factor 11	Ubiquitous expression in lymph node (RPKM 15.2), appendix (RPKM 14.4) and 25 other tissues
SCAF8	chr6	154733325	154834244	+	ENSG00000213079.9	protein_coding	RBM16	6q25.2	SR-related CTD associated factor 8	Ubiquitous expression in testis (RPKM 16.9), bone marrow (RPKM 14.1) and 25 other tissues
SCAI	chr9	124942608	125143506	-	ENSG00000173611.17	protein_coding	C9orf126|NET40	9q33.3	suppressor of cancer cell invasion	This gene encodes a regulator of cell migration. The encoded protein appears to function in the RhoA (ras homolog gene family, member A)-Dia1 (diaphanous homolog 1) signal transduction pathway. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
SCAMP1	chr5	78360583	78479071	+	ENSG00000085365.17	protein_coding	SCAMP|SCAMP37	5q14.1	secretory carrier membrane protein 1	This gene product belongs to the SCAMP family of proteins, which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that these protein family members may function at the same site during vesicular transport rather than in separate pathways. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
SCAMP1-AS1	chr5	78342365	78360507	-	ENSG00000245556.2	lincRNA	-	5q14.1	SCAMP1 antisense RNA 1	-
SCAMP2	chr15	74843730	74873365	-	ENSG00000140497.16	protein_coding	-	15q24.1	secretory carrier membrane protein 2	Ubiquitous expression in colon (RPKM 41.0), small intestine (RPKM 37.7) and 25 other tissues
SCAMP3	chr1	155255979	155262430	-	ENSG00000116521.10	protein_coding	C1orf3	1q22	secretory carrier membrane protein 3	This gene encodes an integral membrane protein that belongs to the secretory carrier membrane protein family. The encoded protein functions as a carrier to the cell surface in post-golgi recycling pathways. This protein is also involved in protein trafficking in endosomal pathways. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
SCAMP4	chr19	1905214	1926013	+	ENSG00000227500.9	protein_coding	SCAMP-4	19p13.3	secretory carrier membrane protein 4	Secretory carrier membrane proteins (SCAMPs) are widely distributed integral membrane proteins implicated in membrane trafficking. Most SCAMPs (e.g., SCAMP1; MIM 606911) have N-terminal cytoplasmic NPF (arg-pro-phe) repeats, 4 central transmembrane regions, and a short C-terminal cytoplasmic tail. These SCAMPs likely have a role in endocytosis that is mediated by their NPF repeats. Other SCAMPs, such as SCAMP4, lack the NPF repeats and are therefore unlikely to function in endocytosis (summary by Fernandez-Chacon and Sudhof, 2000 [PubMed 11050114]).[supplied by OMIM, Feb 2011]
SCAMP5	chr15	74957219	75021496	+	ENSG00000198794.11	protein_coding	-	15q24.2	secretory carrier membrane protein 5	-
SCAND1	chr20	35953617	35959472	-	ENSG00000171222.10	protein_coding	RAZ1|SDP1	20q11.23	SCAN domain containing 1	This gene encodes a SCAN box domain-containing protein. The SCAN domain is a highly conserved, leucine-rich motif of approximately 60 aa originally found within a subfamily of zinc finger proteins. This gene belongs to a family of genes that encode an isolated SCAN domain, but no zinc finger motif. This protein binds to and may regulate the function of the transcription factor myeloid zinc finger 1B. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]
SCAND2P	chr15	84631451	84647478	+	ENSG00000176700.19	transcribed_unprocessed_pseudogene	SCAND2	15q25.2	SCAN domain containing 2 pseudogene	Ubiquitous expression in thyroid (RPKM 4.4), spleen (RPKM 4.2) and 25 other tissues
SCAP	chr3	47413694	47477126	-	ENSG00000114650.18	protein_coding	-	3p21.31	SREBF chaperone	Ubiquitous expression in adrenal (RPKM 22.6), testis (RPKM 19.9) and 25 other tissues
SCAPER	chr15	76347904	76905444	-	ENSG00000140386.12	protein_coding	IDDRP|MSTP063|ZNF291|Zfp291	15q24.3	S-phase cyclin A associated protein in the ER	Broad expression in testis (RPKM 4.5), brain (RPKM 3.0) and 25 other tissues
SCARA3	chr8	27633868	27676776	+	ENSG00000168077.13	protein_coding	APC7|CSR|CSR1|MSLR1|MSRL1	8p21.1	scavenger receptor class A member 3	This gene encodes a macrophage scavenger receptor-like protein. This protein has been shown to deplete reactive oxygen species, and thus play an important role in protecting cells from oxidative stress. The expression of this gene is induced by oxidative stress. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
SCARA5	chr8	27869882	27992727	-	ENSG00000168079.16	protein_coding	NET33|Tesr	8p21.1	scavenger receptor class A member 5	Broad expression in fat (RPKM 25.7), colon (RPKM 18.6) and 19 other tissues
SCARB1	chr12	124776856	124882668	-	ENSG00000073060.15	protein_coding	CD36L1|CLA-1|CLA1|HDLQTL6|SR-BI|SRB1	12q24.31	scavenger receptor class B member 1	The protein encoded by this gene is a plasma membrane receptor for high density lipoprotein cholesterol (HDL). The encoded protein mediates cholesterol transfer to and from HDL. In addition, this protein is a receptor for hepatitis C virus glycoprotein E2 and facilitates cell entry by the virus, SARS-CoV2. [provided by RefSeq, Oct 2021]
SCARB2	chr4	76158733	76234536	-	ENSG00000138760.9	protein_coding	AMRF|CD36L2|EPM4|HLGP85|LGP85|LIMP-2|LIMPII|SR-BII	4q21.1	scavenger receptor class B member 2	The protein encoded by this gene is a type III glycoprotein that is located primarily in limiting membranes of lysosomes and endosomes. Earlier studies in mice and rat suggested that this protein may participate in membrane transportation and the reorganization of endosomal/lysosomal compartment. The protein deficiency in mice was reported to impair cell membrane transport processes and cause pelvic junction obstruction, deafness, and peripheral neuropathy. Further studies in human showed that this protein is a ubiquitously expressed protein and that it is involved in the pathogenesis of HFMD (hand, foot, and mouth disease) caused by enterovirus-71 and possibly by coxsackievirus A16. Mutations in this gene caused an autosomal recessive progressive myoclonic epilepsy-4 (EPM4), also known as action myoclonus-renal failure syndrome (AMRF). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
SCARF1	chr17	1633858	1645747	-	ENSG00000074660.15	protein_coding	SREC|SREC-I|SREC1	17p13.3	scavenger receptor class F member 1	The protein encoded by this gene is a scavenger receptor that is expressed in endothelial cells. It regulates the uptake of chemically modified low density lipoproteins, including acetylated low density lipoprotein (Ac-LDL), and it may be involved in atherogenesis. This gene is regulated by the transcription factors ZNF444/EZF-2 and SP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
SCARF2	chr22	20424815	20437826	-	ENSG00000244486.8	protein_coding	NSR1|SREC-II|SREC2|SRECRP-1|VDEGS	22q11.21	scavenger receptor class F member 2	The protein encoded by this gene is similar to  SCARF1/SREC-I, a scavenger receptor protein that mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). This protein has only little activity of internalizing modified low density lipoproteins (LDL), but it can interact with SCARF1 through its extracellular domain. The association of this protein with SCARF1 is suppressed by the presence of scavenger ligands. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
SCARNA17	chr1	26006006	26006130	+	ENSG00000252190.1	scaRNA	U91	18q21.1	small Cajal body-specific RNA 17	-
SCARNA2	chr1	109100193	109100612	+	ENSG00000278249.1	scaRNA	HBII-382|mgU2-25/61	1p13.3	small Cajal body-specific RNA 2	-
SCARNA21	chr1	15542165	15542304	+	ENSG00000251866.1	scaRNA	ACA68|SCARNA21A	17p13.1	small Cajal body-specific RNA 21	-
SCARNA5	chr2	233275727	233276002	+	ENSG00000252010.1	scaRNA	U87	2q37.1	small Cajal body-specific RNA 5	-
SCARNA6	chr2	233288676	233288940	+	ENSG00000251791.1	scaRNA	U88	2q37.1	small Cajal body-specific RNA 6	-
SCARNA9	chr11	93721513	93721865	+	ENSG00000254911.3	antisense	Z32|mgU2-19/30	11q21	small Cajal body-specific RNA 9	-
SCCPDH	chr1	246724047	246768137	+	ENSG00000143653.9	protein_coding	CGI-49|NET11	1q44	saccharopine dehydrogenase (putative)	Broad expression in testis (RPKM 87.1), liver (RPKM 34.8) and 22 other tissues
SCD	chr10	100347124	100364834	+	ENSG00000099194.5	protein_coding	FADS5|MSTP008|SCD1|SCDOS|hSCD1	10q24.31	stearoyl-CoA desaturase	This gene encodes an enzyme involved in fatty acid biosynthesis, primarily the synthesis of oleic acid. The protein belongs to the fatty acid desaturase family and is an integral membrane protein located in the endoplasmic reticulum. Transcripts of approximately 3.9 and 5.2 kb, differing only by alternative polyadenlyation signals, have been detected. A gene encoding a similar enzyme is located on chromosome 4 and a pseudogene of this gene is located on chromosome 17. [provided by RefSeq, Sep 2015]
SCD5	chr4	82629539	82798857	-	ENSG00000145284.11	protein_coding	ACOD4|DFNA79|FADS4|HSCD5|SCD2|SCD4	4q21.22	stearoyl-CoA desaturase 5	Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an integral membrane protein of the endoplasmic reticulum that catalyzes the formation of monounsaturated fatty acids from saturated fatty acids. SCD may be a key regulator of energy metabolism with a role in obesity and dislipidemia. Four SCD isoforms, Scd1 through Scd4, have been identified in mouse. In contrast, only 2 SCD isoforms, SCD1 (MIM 604031) and SCD5, have been identified in human. SCD1 shares about 85% amino acid identity with all 4 mouse SCD isoforms, as well as with rat Scd1 and Scd2. In contrast, SCD5 shares limited homology with the rodent SCDs and appears to be unique to primates (Wang et al., 2005 [PubMed 15907797]).[supplied by OMIM, Mar 2008]
SCEL	chr13	77535674	77645263	+	ENSG00000136155.16	protein_coding	-	13q22.3	sciellin	Biased expression in esophagus (RPKM 207.5), skin (RPKM 141.4) and 1 other tissue
SCFD1	chr14	30622112	30735812	+	ENSG00000092108.20	protein_coding	C14orf163|RA410|SLY1|SLY1P|STXBP1L2	14q12	sec1 family domain containing 1	Ubiquitous expression in thyroid (RPKM 19.4), testis (RPKM 13.5) and 25 other tissues
SCFD2	chr4	52872982	53366075	-	ENSG00000184178.15	protein_coding	STXBP1L1	4q12	sec1 family domain containing 2	Ubiquitous expression in brain (RPKM 1.5), adrenal (RPKM 1.2) and 25 other tissues
SCG3	chr15	51681353	51721031	+	ENSG00000104112.8	protein_coding	SGIII	15q21.2	secretogranin III	The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Granins may serve as precursors for biologically active peptides. Some granins have been shown to function as helper proteins in sorting and proteolytic processing of prohormones; however, the function of this protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
SCGB1C1	chr11	193080	194573	+	ENSG00000188076.2	protein_coding	RYD5	11p15.5	secretoglobin family 1C member 1	Low expression observed in reference dataset
SCGB1D2	chr11	62242210	62244808	+	ENSG00000124935.3	protein_coding	LIPB|LPHB|LPNB	11q12.3	secretoglobin family 1D member 2	The protein encoded by this gene is a member of the lipophilin subfamily, part of the uteroglobin superfamily, and is an ortholog of prostatein, the major secretory glycoprotein of the rat ventral prostate gland. Lipophilin gene products are widely expressed in normal tissues, especially in endocrine-responsive organs. Assuming that human lipophilins are the functional counterparts of prostatein, they may be transcriptionally regulated by steroid hormones, with the ability to bind androgens, other steroids and possibly bind and concentrate estramustine, a chemotherapeutic agent widely used for prostate cancer. Although the gene has been reported to be on chromosome 10, this sequence appears to be from a cluster of genes on chromosome 11 that includes mammaglobin 2. [provided by RefSeq, Jul 2008]
SCGB1D4	chr11	62296277	62299064	-	ENSG00000197745.2	protein_coding	IIS	11q12.3	secretoglobin family 1D member 4	Restricted expression toward endometrium (RPKM 2.2)
SCGB2A1	chr11	62208668	62213939	+	ENSG00000124939.5	protein_coding	LPHC|LPNC|MGB2|UGB3	11q12.3	secretoglobin family 2A member 1	Biased expression in endometrium (RPKM 28.0), stomach (RPKM 15.9) and 4 other tissues
SCGB2A2	chr11	62270155	62273156	+	ENSG00000110484.6	protein_coding	MGB1|PSBP1|UGB2	11q12.3	secretoglobin family 2A member 2	Biased expression in esophagus (RPKM 14.0), fat (RPKM 1.6) and 1 other tissue
SCGB2B2	chr19	34593329	34675699	-	ENSG00000205209.7	protein_coding	SCGB4A2|SCGBL	19q13.11	secretoglobin family 2B member 2	Low expression observed in reference dataset
SCGB3A1	chr5	180590103	180591540	-	ENSG00000161055.3	protein_coding	HIN-1|HIN1|LU105|PnSP-2|UGRP2	5q35.3	secretoglobin family 3A member 1	Biased expression in lung (RPKM 109.6), salivary gland (RPKM 64.7) and 1 other tissue
SCGN	chr6	25652201	25701783	+	ENSG00000079689.13	protein_coding	CALBL|DJ501N12.8|SECRET|SEGN|setagin	6p22.2	secretagogin, EF-hand calcium binding protein	The encoded protein is a secreted calcium-binding protein which is found in the cytoplasm. It is related to calbindin D-28K and calretinin. This protein is thought to be involved in KCL-stimulated calcium flux and cell proliferation. [provided by RefSeq, Jul 2008]
SCHIP1	chr3	159839861	159897360	+	ENSG00000151967.18	protein_coding	SCHIP-1	3q25.32-q25.33	schwannomin interacting protein 1	Biased expression in brain (RPKM 38.6), heart (RPKM 21.8) and 13 other tissues
SCIMP	chr17	5208961	5234860	-	ENSG00000161929.14	protein_coding	C17orf87|UNQ5783	17p13.2	SLP adaptor and CSK interacting membrane protein	This gene encodes a transmembrane adaptor protein that is expressed in antigen-presenting cells and is localized in the immunologic synapse. The encoded protein is involved in major histocompatibility complex class II signal transduction and immune synapse formation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
SCIN	chr7	12570577	12660179	+	ENSG00000006747.14	protein_coding	-	7p21.3	scinderin	Biased expression in small intestine (RPKM 29.7), kidney (RPKM 29.3) and 11 other tissues
SCLT1	chr4	128864921	129093607	-	ENSG00000151466.11	protein_coding	CAP-1A|CAP1A	4q28.2	sodium channel and clathrin linker 1	This gene encodes an adaptor protein. Studies of a related gene in rat suggest that the encoded protein functions to link clathrin to the sodium channel protein type 10 subunit alpha protein. The encoded protein has also been identified as a component of distal appendages of centrioles that is necessary for ciliogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
SCLY	chr2	238060889	238099413	+	ENSG00000132330.16	protein_coding	SCL|hSCL	2q37.3	selenocysteine lyase	Selenocysteine lyase (SCLY; EC 4.4.1.16) catalyzes the pyridoxal 5-prime phosphate-dependent conversion of L-selenocysteine to L-alanine and elemental selenium (Mihara et al., 2000 [PubMed 10692412]).[supplied by OMIM, Mar 2008]
SCMH1	chr1	41027200	41242154	-	ENSG00000010803.16	protein_coding	Scml3	1p34.2	Scm polycomb group protein homolog 1	Ubiquitous expression in testis (RPKM 14.6), ovary (RPKM 12.4) and 25 other tissues
SCML2P2	chr16	25069570	25070109	+	ENSG00000271105.1	processed_pseudogene	-	16p12.1	SCML2 pseudogene 2	-
SCML4	chr6	107704104	107824317	-	ENSG00000146285.13	protein_coding	dJ47M23.1	6q21	Scm polycomb group protein like 4	Biased expression in lymph node (RPKM 2.2), appendix (RPKM 1.5) and 13 other tissues
SCN11A	chr3	38845769	38950561	-	ENSG00000168356.11	protein_coding	FEPS3|HSAN7|NAV1.9|NaN|PN5|SCN12A|SNS-2	3p22.2	sodium voltage-gated channel alpha subunit 11	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia. It mediates brain-derived neurotrophic factor-evoked membrane depolarization and is a major effector of peripheral inflammatory pain hypersensitivity. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy type VII and familial episodic pain syndrome-3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]
SCN1B	chr19	35030466	35040449	+	ENSG00000105711.11	protein_coding	ATFB13|BRGDA5|DEE52|EIEE52|GEFSP1	19q13.11	sodium voltage-gated channel beta subunit 1	Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
SCN2A	chr2	165194993	165392310	+	ENSG00000136531.15	protein_coding	BFIC3|BFIS3|BFNIS|DEE11|EA9|EIEE11|HBA|HBSCI|HBSCII|NAC2|Na(v)1.2|Nav1.2|SCN2A1|SCN2A2	2q24.3	sodium voltage-gated channel alpha subunit 2	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
SCN2B	chr11	118161951	118176673	-	ENSG00000149575.5	protein_coding	ATFB14	11q23.3	sodium voltage-gated channel beta subunit 2	The protein encoded by this gene is the beta 2 subunit of the type II voltage-gated sodium channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can be a cause of Brugada Syndrome, atrial fibrillation, or sudden infant death syndrome. [provided by RefSeq, Jul 2015]
SCN3A	chr2	165087522	165204067	-	ENSG00000153253.16	protein_coding	DEE62|EIEE62|FFEVF4|NAC3|Nav1.3	2q24.3	sodium voltage-gated channel alpha subunit 3	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
SCN3B	chr11	123629187	123655244	-	ENSG00000166257.8	protein_coding	ATFB16|BRGDA7|HSA243396|SCNB3	11q24.1	sodium voltage-gated channel beta subunit 3	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
SCN4A	chr17	63938554	63972918	-	ENSG00000007314.12	protein_coding	CMS16|HOKPP2|HYKPP|HYPP|NAC1A|Na(V)1.4|Nav1.4|SkM1	17q23.3	sodium voltage-gated channel alpha subunit 4	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]
SCN4B	chr11	118133377	118152888	-	ENSG00000177098.8	protein_coding	ATFB17|LQT10|Navbeta4	11q23.3	sodium voltage-gated channel beta subunit 4	The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009]
SCN5A	chr3	38548057	38649673	-	ENSG00000183873.15	protein_coding	CDCD2|CMD1E|CMPD2|HB1|HB2|HBBD|HH1|ICCD|IVF|LQT3|Nav1.5|PFHB1|SSS1|VF1	3p22.2	sodium voltage-gated channel alpha subunit 5	The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
SCN7A	chr2	166403573	166494247	-	ENSG00000136546.13	protein_coding	NaG|Nav2.1|Nav2.2|SCN6A	2q24.3	sodium voltage-gated channel alpha subunit 7	This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011]
SCN8A	chr12	51590266	51812864	+	ENSG00000196876.15	protein_coding	BFIS5|CERIII|CIAT|DEE13|EIEE13|MED|MYOCL2|NaCh6|Nav1.6|PN4	12q13.13	sodium voltage-gated channel alpha subunit 8	This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
SCNM1	chr1	151156664	151170297	+	ENSG00000163156.11	protein_coding	-	1q21.3	sodium channel modifier 1	Ubiquitous expression in spleen (RPKM 7.6), lymph node (RPKM 7.6) and 25 other tissues
SCNN1A	chr12	6346843	6377730	-	ENSG00000111319.12	protein_coding	BESC2|ENaCa|ENaCalpha|LIDLS3|SCNEA|SCNN1	12p13.31	sodium channel epithelial 1 subunit alpha	Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]
SCNN1D	chr1	1280436	1292029	+	ENSG00000162572.20	protein_coding	ENaCd|ENaCdelta|SCNED|dNaCh	1p36.33	sodium channel epithelial 1 subunit delta	Broad expression in testis (RPKM 4.7), brain (RPKM 1.6) and 23 other tissues
SCNN1G	chr16	23182715	23216883	+	ENSG00000166828.2	protein_coding	BESC3|ENaCg|ENaCgamma|LDLS2|PHA1|SCNEG	16p12.2	sodium channel epithelial 1 subunit gamma	Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq, Apr 2009]
SCO2	chr22	50523568	50525606	-	ENSG00000130489.14	protein_coding	CEMCOX1|ECGF1|Gliostatin|MC4DN2|MYP6|PD-ECGF|SCO1L|TP|TYMP|TdRPase	22q13.33	synthesis of cytochrome C oxidase 2	Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014]
SCOC	chr4	140257286	140385726	+	ENSG00000153130.17	protein_coding	HRIHFB2072|SCOCO|UNC-69	4q31.1	short coiled-coil protein	This gene encodes a short coiled-coiled domain-containing protein that localizes to the Golgi apparatus. The encoded protein interacts with ADP-ribosylation factor-like proteins. Pseudogenes of this gene are found on chromosomes 1 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
SCP2	chr1	52927229	53051703	+	ENSG00000116171.17	protein_coding	NLTP|NSL-TP|SCOX|SCP-2|SCP-CHI|SCP-X|SCPX	1p32.3	sterol carrier protein 2	This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2), as a result of transcription initiation from 2 independently regulated promoters. The transcript initiated from the proximal promoter encodes the longer SCPx protein, and the transcript initiated from the distal promoter encodes the shorter SCP2 protein, with the 2 proteins sharing a common C-terminus. Evidence suggests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thought to be an intracellular lipid transfer protein. This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms.[provided by RefSeq, Aug 2010]
SCPEP1	chr17	56978105	57006768	+	ENSG00000121064.12	protein_coding	HSCP1|RISC	17q22	serine carboxypeptidase 1	Ubiquitous expression in thyroid (RPKM 64.9), adrenal (RPKM 63.4) and 24 other tissues
SCRG1	chr4	173384701	173406380	-	ENSG00000164106.7	protein_coding	SCRG-1	4q34.1	stimulator of chondrogenesis 1	Scrapie-responsive gene 1 is associated with neurodegenerative changes observed in transmissible spongiform encephalopathies. It may play a role in host response to prion-associated infections. The scrapie responsive protein 1 may be partly included in the membrane or secreted by the cells due to its hydrophobic N-terminus. In addition, the encoded protein can interact with bone marrow stromal cell antigen 1 (BST1) to enhance the differentiation potentials of human mesenchymal stem cells during tissue and bone regeneration. [provided by RefSeq, Jul 2016]
SCRIB	chr8	143790920	143815379	-	ENSG00000180900.18	protein_coding	CRIB1|SCRB1|SCRIB1|Vartul	8q24.3	scribble planar cell polarity protein	This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
SCRN1	chr7	29920103	29990289	-	ENSG00000136193.16	protein_coding	SES1	7p14.3	secernin 1	This gene likely encodes a member of the secernin family of proteins. A similar protein in rat functions in regulation of exocytosis in mast cells. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
SCRN2	chr17	47837692	47841333	-	ENSG00000141295.13	protein_coding	Ses2	17q21.32	secernin 2	Ubiquitous expression in fat (RPKM 52.8), kidney (RPKM 36.1) and 25 other tissues
SCRN3	chr2	174395730	174429575	+	ENSG00000144306.14	protein_coding	SES3	2q31.1	secernin 3	Ubiquitous expression in brain (RPKM 6.9), thyroid (RPKM 5.5) and 25 other tissues
SCRT1	chr8	144330565	144336281	-	ENSG00000261678.2	protein_coding	SCRT|ZNF898	8q24.3	scratch family transcriptional repressor 1	This gene encodes a C2H2-type zinc finger transcriptional repressor that binds to E-box motifs. The encoded protein may promote neural differention and may be involved in cancers with neuroendocrine features. [provided by RefSeq, Jul 2013]
SCT	chr11	626431	627143	-	ENSG00000070031.3	protein_coding	-	11p15.5	secretin	Biased expression in duodenum (RPKM 7.1), small intestine (RPKM 1.4) and 2 other tissues
SCUBE1	chr22	43197283	43343388	-	ENSG00000159307.18	protein_coding	-	22q13.2	signal peptide, CUB domain and EGF like domain containing 1	Broad expression in ovary (RPKM 8.0), testis (RPKM 5.9) and 17 other tissues
SCUBE2	chr11	9020391	9138114	-	ENSG00000175356.12	protein_coding	CEGB1|CEGF1|CEGP1|scube/You	11p15.4	signal peptide, CUB domain and EGF like domain containing 2	Broad expression in prostate (RPKM 8.1), urinary bladder (RPKM 7.3) and 20 other tissues
SCUBE3	chr6	35214419	35253079	+	ENSG00000146197.8	protein_coding	CEGF3|SSFSC2	6p21.31	signal peptide, CUB domain and EGF like domain containing 3	This gene encodes a member of the signal peptide, complement subcomponents C1r/C1s, Uegf, bone morphogenetic protein-1 and epidermal growth factor-like domain containing protein family. Overexpression of this gene in human embryonic kidney cells results in secretion of a glycosylated form of the protein that forms oligomers and tethers to the cell surface. This gene is upregulated in lung cancer tumor tissue compared to healthy tissue and is associated with loss of the epithelial marker E-cadherin and with increased expression of vimentin, a mesenchymal marker. In addition, the protein encoded by this gene is a transforming growth factor beta receptor ligand, and when secreted by cancer cells, it can be cleaved in vitro to release the N-terminal epidermal growth factor-like repeat domain and the C-terminal complement subcomponents C1r/C1s domain. Both the full length protein and C-terminal fragment can bind to the transforming growth factor beta type II receptor to promote the epithelial-mesenchymal transition and tumor angiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
SCX	chr8	144266560	144268481	+	ENSG00000260428.2	protein_coding	SCXA|SCXB|bHLHa48	8q24.3	scleraxis bHLH transcription factor	Note: In the NCBI Build GRCh37 reference assembly SCXA and SCXB are duplicate genes in close proximity to each other on chromosome 8. In August, 2010 the Genome Reference Consortium determined that the region contains a duplication error. The clone on which SCXA was based (AC110280.8) was be removed from the GRCh38 reference assembly and SCXB was retained and renamed to SCX. [27 Sep 2015]
SCYL1	chr11	65525077	65538704	+	ENSG00000142186.16	protein_coding	GKLP|HT019|NKTL|NTKL|P105|SCAR21|TAPK|TEIF|TRAP	11q13.1	SCY1 like pseudokinase 1	This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inactive, and can bind specific DNA sequences through its C-terminal domain. It activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes. The protein has been localized to the nucleus, and also to the cytoplasm and centrosomes during mitosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
SCYL2	chr12	100267140	100341724	+	ENSG00000136021.18	protein_coding	AMC4|AMCNACC|CVAK104	12q23.1	SCY1 like pseudokinase 2	The protein encoded by this gene associates with clathrin-coated complexes at the plasma membrane and with endocytic coated vesicles. The encoded protein phosphorylates the beta2 subunit of the plasma membrane adapter complex AP2 and interacts with clathrin, showing involvement in clathrin-dependent pathways between the trans-Golgi network and the endosomal system. In addition, this protein has a role in the Wnt signaling pathway by targeting frizzled 5 (Fzd5) for lysosomal degradation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]
SCYL3	chr1	169849631	169894267	-	ENSG00000000457.13	protein_coding	PACE-1|PACE1	1q24.2	SCY1 like pseudokinase 3	This gene encodes a protein with a kinase domain and four HEAT repeats. The encoded protein interacts with the C-terminal domain of ezrin, an ERM protein, and may play a role in cell adhesion and migration. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012]
SDAD1	chr4	75940950	75990962	-	ENSG00000198301.11	protein_coding	-	4q21.1	SDA1 domain containing 1	-
SDAD1P1	chr8	26379259	26382953	-	ENSG00000228451.3	transcribed_processed_pseudogene	-	8p21.2	SDA1 domain containing 1 pseudogene 1	-
SDC1	chr2	20200797	20225433	-	ENSG00000115884.10	protein_coding	CD138|SDC|SYND1|syndecan	2p24.1	syndecan 1	The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-1 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-1 expression has been detected in several different tumor types. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same protein. [provided by RefSeq, Jul 2008]
SDC2	chr8	96493351	96611780	+	ENSG00000169439.11	protein_coding	CD362|HSPG|HSPG1|SYND2	8q22.1	syndecan 2	The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-2 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-2 expression has been detected in several different tumor types. [provided by RefSeq, Jul 2008]
SDC3	chr1	30869467	30908761	-	ENSG00000162512.15	protein_coding	SDCN|SYND3	1p35.2	syndecan 3	The protein encoded by this gene belongs to the syndecan proteoglycan family. It may play a role in the organization of cell shape by affecting the actin cytoskeleton, possibly by transferring signals from the cell surface in a sugar-dependent mechanism. Allelic variants of this gene have been associated with obesity. [provided by RefSeq, Oct 2009]
SDC4	chr20	45325288	45348424	-	ENSG00000124145.6	protein_coding	SYND4	20q13.12	syndecan 4	The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan that functions as a receptor in intracellular signaling. The encoded protein is found as a homodimer and is a member of the syndecan proteoglycan family. This gene is found on chromosome 20, while a pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]
SDCBP	chr8	58552924	58582860	+	ENSG00000137575.11	protein_coding	MDA-9|MDA9|ST1|SYCL|TACIP18	8q12.1	syndecan binding protein	The protein encoded by this gene was initially identified as a molecule linking syndecan-mediated signaling to the cytoskeleton. The syntenin protein contains tandemly repeated PDZ domains that bind the cytoplasmic, C-terminal domains of a variety of transmembrane proteins. This protein may also affect cytoskeletal-membrane organization, cell adhesion, protein trafficking, and the activation of transcription factors. The protein is primarily localized to membrane-associated adherens junctions and focal adhesions but is also found at the endoplasmic reticulum and nucleus. Alternative splicing results in multiple transcript variants encoding different isoforms. Related pseudogenes have been identified on multiple chromosomes. [provided by RefSeq, Jan 2017]
SDCBP2	chr20	1309909	1329239	-	ENSG00000125775.14	protein_coding	SITAC|SITAC18|ST-2|ST2	20p13	syndecan binding protein 2	The protein encoded by this gene contains two class II PDZ domains. PDZ domains facilitate protein-protein interactions by binding to the cytoplasmic C-terminus of transmembrane proteins, and PDZ-containing proteins mediate cell signaling and the organization of protein complexes. The encoded protein binds to phosphatidylinositol 4, 5-bisphosphate (PIP2) and plays a role in nuclear PIP2 organization and cell division. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Read-through transcription also exists between this gene and the upstream FKBP1A (FK506 binding protein 1A, 12kDa) gene, as represented in GeneID:100528031. [provided by RefSeq, Sep 2011]
SDCBP2-AS1	chr20	1325405	1378734	+	ENSG00000234684.6	antisense	-	20p13	SDCBP2 antisense RNA 1	-
SDCCAG8	chr1	243256034	243500092	+	ENSG00000054282.15	protein_coding	BBS16|CCCAP|CCCAP SLSN7|HSPC085|NPHP10|NY-CO-8|SLSN7|hCCCAP	1q43-q44	SHH signaling and ciliogenesis regulator SDCCAG8	This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010]
SDE2	chr1	225982702	225999331	-	ENSG00000143751.9	protein_coding	C1orf55|dJ671D7.1	1q42.12	SDE2 telomere maintenance homolog	Ubiquitous expression in bone marrow (RPKM 11.6), thyroid (RPKM 7.7) and 25 other tissues
SDF2	chr17	28648356	28662189	-	ENSG00000132581.9	protein_coding	-	17q11.2	stromal cell derived factor 2	Ubiquitous expression in adrenal (RPKM 19.5), placenta (RPKM 16.0) and 25 other tissues
SDF2L1	chr22	21642261	21644298	+	ENSG00000128228.4	protein_coding	-	22q11.21	stromal cell derived factor 2 like 1	-
SDF4	chr1	1216908	1232031	-	ENSG00000078808.16	protein_coding	Cab45|SDF-4	1p36.33	stromal cell derived factor 4	This gene encodes a stromal cell derived factor that is a member of the CREC protein family. The encoded protein contains six EF-hand motifs and calcium-binding motifs. This protein localizes to the Golgi lumen and may be involved in regulating calcium dependent cellular activities. [provided by RefSeq, Sep 2011]
SDHA	chr5	218241	256700	+	ENSG00000073578.16	protein_coding	CMD1GG|FP|MC2DN1|NDAXOA|PGL5|SDH1|SDH2|SDHF	5p15.33	succinate dehydrogenase complex flavoprotein subunit A	This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
SDHAF1	chr19	35995199	35996315	+	ENSG00000205138.3	protein_coding	LYRM8|MC2DN2	19q13.12	succinate dehydrogenase complex assembly factor 1	The succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria, and is essential for SDH assembly, but does not physically associate with the complex in vivo. Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy (mitochondrial complex II deficiency).[provided by RefSeq, Mar 2010]
SDHAF3	chr7	97116590	97181763	+	ENSG00000196636.7	protein_coding	ACN9|DC11|LYRM10|Sdh7	7q21.3	succinate dehydrogenase complex assembly factor 3	Ubiquitous expression in kidney (RPKM 6.5), testis (RPKM 5.6) and 25 other tissues
SDHAF4	chr6	70566917	70589569	+	ENSG00000154079.5	protein_coding	C6orf57|Sdh8	6q13	succinate dehydrogenase complex assembly factor 4	Ubiquitous expression in fat (RPKM 12.9), brain (RPKM 11.1) and 25 other tissues
SDHAP1	chr3	195959748	195990318	-	ENSG00000185485.14	transcribed_unprocessed_pseudogene	SDHAL1|SDHALP1	3q29	SDHA pseudogene 1	Note: After Build36.1, HUGO Gene Nomenclature Committee (HGNC) and NCBI noted that the annotation of SDHAL1 and SDHAL2 was incorrect. SDHAL1 is the form telomeric to SDHAL2. At that time the name of GeneID 255812 was changed to SDHAL1. [11 Apr 2007]
SDHAP2	chr3	195658096	195685904	+	ENSG00000215837.7	transcribed_unprocessed_pseudogene	SDHAL2|SDHALP2	3q29	SDHA pseudogene 2	Ubiquitous expression in endometrium (RPKM 12.3), testis (RPKM 12.1) and 25 other tissues
SDHB	chr1	17018722	17054170	-	ENSG00000117118.9	protein_coding	CWS2|IP|MC2DN4|PGL4|SDH|SDH1|SDH2|SDHIP	1p36.13	succinate dehydrogenase complex iron sulfur subunit B	Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq, Jul 2008]
SDHC	chr1	161314257	161375340	+	ENSG00000143252.14	protein_coding	CYB560|CYBL|PGL3|QPS1|SDH3	1q23.3	succinate dehydrogenase complex subunit C	This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]
SDHCP3	chr2	23943846	23944351	+	ENSG00000234946.1	processed_pseudogene	-	2p23.3	succinate dehydrogenase complex subunit C pseudogene 3	-
SDHCP4	chr11	17435672	17436181	-	ENSG00000255035.2	processed_pseudogene	-	11p15.1	succinate dehydrogenase complex subunit C pseudogene 4	-
SDHD	chr11	112086773	112120013	+	ENSG00000204370.9	protein_coding	CBT1|CII-4|CWS3|MC2DN3|PGL|PGL1|QPs3|SDH4|cybS	11q23.1	succinate dehydrogenase complex subunit D	This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
SDHDP6	chr1	25294164	25294643	-	ENSG00000224183.1	processed_pseudogene	-	1p36.11	succinate dehydrogenase complex subunit D pseudogene 6	-
SDK1	chr7	3301448	4269000	+	ENSG00000146555.18	protein_coding	-	7p22.2	sidekick cell adhesion molecule 1	Broad expression in endometrium (RPKM 2.3), spleen (RPKM 2.1) and 22 other tissues
SDK2	chr17	73334384	73644089	-	ENSG00000069188.16	protein_coding	-	17q25.1	sidekick cell adhesion molecule 2	Biased expression in testis (RPKM 6.4), spleen (RPKM 1.7) and 8 other tissues
SDR16C5	chr8	56300010	56320776	-	ENSG00000170786.12	protein_coding	EPHD-2|RDH#2|RDH-E2|RDHE2|retSDR2	8q12.1	short chain dehydrogenase/reductase family 16C member 5	This gene encodes a member of the short-chain alcohol dehydrogenase/reductase superfamily of proteins and is involved in the oxidation of retinol to retinaldehyde. The encoded protein is associated with the endoplasmic reticulum and is predicted to contain three transmembrane helices, suggesting that it is an integral membrane protein. It recognizes all-trans-retinol and all-trans-retinaldehyde as substrates and exhibits a strong preference for NAD(+)/NADH as cofactors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
SDR39U1	chr14	24439766	24442905	-	ENSG00000100445.17	protein_coding	C14orf124|HCDI	14q12	short chain dehydrogenase/reductase family 39U member 1	This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) superfamily, which includes both classical and extended types. The encoded protein represents an extended type, with similarity to epimerases. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]
SDR42E1	chr16	81988855	82011488	-	ENSG00000184860.9	protein_coding	HSPC105	16q23.3	short chain dehydrogenase/reductase family 42E, member 1	Broad expression in skin (RPKM 2.8), duodenum (RPKM 2.0) and 17 other tissues
SDR42E1P5	chr2	102411243	102412108	+	ENSG00000236785.1	processed_pseudogene	-	2q12.1	short chain dehydrogenase/reductase family 42E, member 1 pseudogene 5	-
SDR9C7	chr12	56923154	56934405	-	ENSG00000170426.1	protein_coding	ARCI13|RDHS|SDR-O|SDRO	12q13.3	short chain dehydrogenase/reductase family 9C member 7	This gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family but has not been shown to have retinoid or dehydrogenase activities. [provided by RefSeq, Apr 2010]
SDS	chr12	113392445	113426301	-	ENSG00000135094.10	protein_coding	SDH	12q24.13	serine dehydratase	This gene encodes one of three enzymes that are involved in metabolizing serine and glycine. L-serine dehydratase converts L-serine to pyruvate and ammonia and requires pyridoxal phosphate as a cofactor. The encoded protein can also metabolize threonine to NH4+ and 2-ketobutyrate. The encoded protein is found predominantly in the liver. [provided by RefSeq, Jul 2008]
SDSL	chr12	113422237	113438276	+	ENSG00000139410.14	protein_coding	SDH 2|SDS-RS1|TDH|cSDH	12q24.13	serine dehydratase like	Broad expression in kidney (RPKM 8.5), thyroid (RPKM 7.2) and 24 other tissues
SEBOX	chr17	28364268	28365244	-	ENSG00000274529.5	protein_coding	OG-9|OG9|OG9X	17q11.2	SEBOX homeobox	Homeodomain proteins, such as SEBOX, play a key role in coordinating gene expression during development (Cinquanta et al., 2000 [PubMed 10922053]).[supplied by OMIM, Mar 2008]
SEC11A	chr15	84669538	84716716	-	ENSG00000140612.13	protein_coding	1810012E07Rik|SEC11L1|SPC18|SPCS4A|sid2895	15q25.2-q25.3	SEC11 homolog A, signal peptidase complex subunit	This gene encodes a member of the peptidase S26B family. The encoded protein is an 18kDa subunit of the signal peptidase complex and has been linked to cell migration and invasion, gastric cancer and lymph node metastasis. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Dec 2012]
SEC11C	chr18	59139477	59158836	+	ENSG00000166562.8	protein_coding	SEC11L3|SPC21|SPCS4C	18q21.32	SEC11 homolog C, signal peptidase complex subunit	Ubiquitous expression in prostate (RPKM 109.5), thyroid (RPKM 61.5) and 25 other tissues
SEC13	chr3	10293131	10321178	-	ENSG00000157020.17	protein_coding	D3S1231E|SEC13L1|SEC13R|npp-20	3p25.3	SEC13 homolog, nuclear pore and COPII coat complex component	The protein encoded by this gene belongs to the SEC13 family of WD-repeat proteins. It is a constituent of the endoplasmic reticulum and the nuclear pore complex. It has similarity to the yeast SEC13 protein, which is required for vesicle biogenesis from endoplasmic reticulum during the transport of proteins. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2008]
SEC13P1	chr3	33033863	33034810	+	ENSG00000223899.1	processed_pseudogene	-	3p22.3	SEC13 homolog, nuclear pore and COPII coat complex component pseudogene 1	-
SEC14L1	chr17	77086716	77217101	+	ENSG00000129657.14	protein_coding	PRELID4A|SEC14L	17q25.2-q25.3	SEC14 like lipid binding 1	The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular transport system. Multiple alternatively spliced transcript variants have been found for this gene; some variants represent read-through transcripts that include exons from the upstream gene C17orf86. [provided by RefSeq, Feb 2011]
SEC14L1P1	chr11	43897456	43899636	+	ENSG00000213693.4	processed_pseudogene	-	11p11.2	SEC14 like 1 pseudogene 1	-
SEC14L2	chr22	30396857	30425317	+	ENSG00000100003.17	protein_coding	C22orf6|SPF|TAP|TAP1	22q12.2	SEC14 like lipid binding 2	This gene encodes a cytosolic protein which belongs to a family of lipid-binding proteins including Sec14p, alpha-tocopherol transfer protein, and cellular retinol-binding protein. The encoded protein stimulates squalene monooxygenase which is a downstream enzyme in the cholesterol biosynthetic pathway. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]
SEC14L3	chr22	30447959	30472049	-	ENSG00000100012.11	protein_coding	TAP2	22q12.2	SEC14 like lipid binding 3	The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
SEC14L4	chr22	30488913	30505711	-	ENSG00000133488.14	protein_coding	TAP3	22q12.2	SEC14 like lipid binding 4	The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]
SEC14L5	chr16	4958317	5019158	+	ENSG00000103184.11	protein_coding	PRELID4B	16p13.3	SEC14 like lipid binding 5	Biased expression in brain (RPKM 6.8), heart (RPKM 1.4) and 3 other tissues
SEC14L6	chr22	30522799	30546682	-	ENSG00000214491.8	protein_coding	-	22q12.2	SEC14 like lipid binding 6	-
SEC16A	chr9	136440096	136483759	-	ENSG00000148396.18	protein_coding	KIAA0310|SEC16L|p250	9q34.3	SEC16 homolog A, endoplasmic reticulum export factor	This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Feb 2013]
SEC16B	chr1	177923956	177984303	-	ENSG00000120341.18	protein_coding	LZTR2|PGPR-p117|RGPR|RGPR-p117|SEC16S	1q25.2	SEC16 homolog B, endoplasmic reticulum export factor	SEC16B is a mammalian homolog of S. cerevisiae Sec16 that is required for organization of transitional endoplasmic reticulum (ER) sites and protein export (Bhattacharyya and Glick, 2007 [PubMed 17192411]).[supplied by OMIM, Jun 2009]
SEC1P	chr19	48638071	48682245	+	ENSG00000232871.8	unitary_pseudogene	SEC1	19q13.33	secretory blood group 1, pseudogene	Broad expression in testis (RPKM 2.7), brain (RPKM 1.0) and 20 other tissues
SEC22A	chr3	123201927	123274130	+	ENSG00000121542.11	protein_coding	SEC22L2	3q21.1	SEC22 homolog A, vesicle trafficking protein	The protein encoded by this gene belongs to the member of the SEC22 family of vesicle trafficking proteins. This protein has similarity to rat SEC22 and may act in the early stages of the secretory pathway. [provided by RefSeq, Nov 2008]
SEC22B	chr1	120150898	120176515	-	ENSG00000265808.3	protein_coding	ERS-24|SEC22L1	1p12	SEC22 homolog B, vesicle trafficking protein	The protein encoded by this gene is a member of the SEC22 family of vesicle trafficking proteins. It seems to complex with SNARE and it is thought to play a role in the ER-Golgi protein trafficking. This protein has strong similarity to Mus musculus and Cricetulus griseus proteins.[provided by RefSeq, Sep 2009]
SEC22C	chr3	42547969	42601080	-	ENSG00000093183.13	protein_coding	SEC22L3	3p22.1	SEC22 homolog C, vesicle trafficking protein	This gene encodes a member of the SEC22 family of vesicle trafficking proteins. The encoded protein is localized to the endoplasmic reticulum and may play a role in the early stages of ER-Golgi protein trafficking. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
SEC23A	chr14	39031919	39109646	-	ENSG00000100934.14	protein_coding	CLSD|hSec23A	14q21.1	SEC23 homolog A, COPII coat complex component	The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking. [provided by RefSeq, Jul 2008]
SEC23B	chr20	18507493	18561415	+	ENSG00000101310.14	protein_coding	CDA-II|CDAII|CDAN2|CWS7|HEMPAS|hSec23B	20p11.23	SEC23 homolog B, COPII coat complex component	The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The function of this gene product has been implicated in cargo selection and concentration. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010]
SEC23IP	chr10	119892711	119944658	+	ENSG00000107651.12	protein_coding	MSTP053|P125|P125A|iPLA1beta	10q26.11-q26.12	SEC23 interacting protein	This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
SEC24A	chr5	134648789	134727823	+	ENSG00000113615.12	protein_coding	-	5q31.1	SEC24 homolog A, COPII coat complex component	Ubiquitous expression in small intestine (RPKM 10.1), duodenum (RPKM 10.0) and 25 other tissues
SEC24B	chr4	109433772	109540896	+	ENSG00000138802.11	protein_coding	SEC24	4q25	SEC24 homolog B, COPII coat complex component	The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein is thought to be a cargo-binding component of the COPII vesicle, and is thought to be involved in the transport of secretory proteins from the endoplasmic reticulum to the Golgi apparatus. Mutations in this gene have been associated with neural tube defects, and are thought to be a result of a disruption in interactions with the protein encoded by the VANGL planar cell polarity protein 2 (VANGL2) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
SEC24C	chr10	73744384	73772161	+	ENSG00000176986.15	protein_coding	-	10q22.2	SEC24 homolog C, COPII coat complex component	Ubiquitous expression in esophagus (RPKM 30.5), thyroid (RPKM 29.8) and 25 other tissues
SEC24D	chr4	118722823	118838683	-	ENSG00000150961.14	protein_coding	CLCRP2	4q26	SEC24 homolog D, COPII coat complex component	The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. This gene product is implicated in the shaping of the vesicle, and also in cargo selection and concentration. Mutations in this gene have been associated with Cole-Carpenter syndrome, a disorder affecting bone formation, resulting in craniofacial malformations and bones that break easily. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
SEC31A	chr4	82818661	82901166	-	ENSG00000138674.16	protein_coding	ABP125|ABP130|HSPC275|HSPC334|NEDSOSB|SEC31L1	4q21.22	SEC31 homolog A, COPII coat complex component	The protein encoded by this gene shares similarity with the yeast Sec31 protein, and is a component of the outer layer of the coat protein complex II (COPII). The encoded protein is involved in vesicle budding from the endoplasmic reticulum (ER) and contains multiple WD repeats near the N-terminus and a proline-rich region in the C-terminal half. It associates with the protein encoded by the SEC13 homolog, nuclear pore and COPII coat complex component (SEC13), and is required for ER-Golgi transport. Monoubiquitylation of this protein by CUL3-KLHL12 was found to regulate the size of COPII coats to accommodate unusually shaped cargo. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
SEC31B	chr10	100486642	100519864	-	ENSG00000075826.16	protein_coding	SEC31B-1|SEC31L2	10q24.31	SEC31 homolog B, COPII coat complex component	This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [provided by RefSeq, Jul 2008]
SEC61A1	chr3	128051641	128071683	+	ENSG00000058262.9	protein_coding	ADTKD5|HNFJ4|HSEC61|SEC61|SEC61A	3q21.3	SEC61 translocon subunit alpha 1	The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]
SEC61A2	chr10	12129637	12169961	+	ENSG00000065665.20	protein_coding	-	10p14	SEC61 translocon subunit alpha 2	Broad expression in brain (RPKM 12.8), testis (RPKM 10.0) and 24 other tissues
SEC61B	chr9	99222064	99230615	+	ENSG00000106803.9	protein_coding	-	9q22.33	SEC61 translocon subunit beta	Ubiquitous expression in adrenal (RPKM 68.2), appendix (RPKM 66.5) and 25 other tissues
SEC62	chr3	169966635	169998373	+	ENSG00000008952.16	protein_coding	Dtrp1|HTP1|TLOC1|TP-1	3q26.2	SEC62 homolog, preprotein translocation factor	The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC63 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq, Jul 2008]
SEC63	chr6	107867756	107958189	-	ENSG00000025796.13	protein_coding	DNAJC23|ERdj2|PCLD2|PRO2507|SEC63L	6q21	SEC63 homolog, protein translocation regulator	The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC62 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq, Jul 2008]
SECISBP2	chr9	89318506	89359662	+	ENSG00000187742.14	protein_coding	SBP2	9q22.2	SECIS binding protein 2	The protein encoded by this gene is one of the essential components of the machinery involved in co-translational insertion of selenocysteine (Sec) into selenoproteins. Sec is encoded by the UGA codon, which normally signals translation termination. The recoding of UGA as Sec codon requires a Sec insertion sequence (SECIS) element; present in the 3 untranslated regions of eukaryotic selenoprotein mRNAs. This protein specifically binds to the SECIS element, which is stimulated by a Sec-specific translation elongation factor. Mutations in this gene have been associated with reduction in enzymatic activity of type II iodothyronine deiodinase (a selenoprotein) and abnormal thyroid hormone metabolism. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]
SECISBP2L	chr15	48988476	49046563	-	ENSG00000138593.8	protein_coding	SBP2L|SLAN	15q21.1	SECIS binding protein 2 like	Ubiquitous expression in brain (RPKM 34.5), lung (RPKM 24.8) and 25 other tissues
SEH1L	chr18	12947133	12987536	+	ENSG00000085415.15	protein_coding	SEC13L|SEH1A|SEH1B|Seh1	18p11.21	SEH1 like nucleoporin	The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
SEL1L	chr14	81471549	81533861	-	ENSG00000071537.13	protein_coding	Hrd3|PRO1063|SEL1-LIKE|SEL1L1	14q31.1	SEL1L adaptor subunit of ERAD E3 ubiquitin ligase	The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
SELE	chr1	169722641	169764705	-	ENSG00000007908.15	protein_coding	CD62E|ELAM|ELAM1|ESEL|LECAM2	1q24.2	selectin E	The protein encoded by this gene is found in cytokine-stimulated endothelial cells and is thought to be responsible for the accumulation of blood leukocytes at sites of inflammation by mediating the adhesion of cells to the vascular lining. It exhibits structural features such as the presence of lectin- and EGF-like domains followed by short consensus repeat (SCR) domains that contain 6 conserved cysteine residues. These proteins are part of the selectin family of cell adhesion molecules. Adhesion molecules participate in the interaction between leukocytes and the endothelium and appear to be involved in the pathogenesis of atherosclerosis. [provided by RefSeq, Jul 2008]
SELENBP1	chr1	151364302	151372733	-	ENSG00000143416.20	protein_coding	EHMTO|HEL-S-134P|LPSB|MTO|SBP56|SP56|hSBP	1q21.3	selenium binding protein 1	This gene encodes a member of the selenium-binding protein family. Selenium is an essential nutrient that exhibits potent anticarcinogenic properties, and deficiency of selenium may cause certain neurologic diseases. The effects of selenium in preventing cancer and neurologic diseases may be mediated by selenium-binding proteins, and decreased expression of this gene may be associated with several types of cancer. The encoded protein may play a selenium-dependent role in ubiquitination/deubiquitination-mediated protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]
SELENOH	chr11	57741250	57743554	+	ENSG00000211450.9	protein_coding	C11orf31|C17orf10|SELH	11q12.1	selenoprotein H	This gene encodes a nucleolar protein, which belongs to the SelWTH family. It functions as an oxidoreductase, and has been shown to protect neurons against UVB-induced damage by inhibiting apoptotic cell death pathways, promote mitochondrial biogenesis and mitochondrial function, and suppress cellular senescence through genome maintenance and redox regulation. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3 UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2016]
SELENOI	chr2	26308547	26395891	+	ENSG00000138018.17	protein_coding	EPT1|SELI|SEPI|SPG81	2p23.3	selenoprotein I	The multi-pass transmembrane protein encoded by this gene belongs to the CDP-alcohol phosphatidyltransferase class-I family. It catalyzes the transfer of phosphoethanolamine from CDP-ethanolamine to diacylglycerol to produce phosphatidylethanolamine, which is involved in the formation and maintenance of vesicular membranes, regulation of lipid metabolism, and protein folding. This protein is a selenoprotein, containing the rare selenocysteine (Sec) amino acid at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3 UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2016]
SELENOK	chr3	53884410	53891988	-	ENSG00000113811.10	protein_coding	HSPC030|HSPC297|SELK	3p21.1	selenoprotein K	The protein encoded by this gene belongs to the selenoprotein K family. It is a transmembrane protein that is localized in the endoplasmic reticulum (ER), and is involved in ER-associated degradation (ERAD) of misfolded, glycosylated proteins. It also has a role in the protection of cells from ER stress-induced apoptosis. Knockout studies in mice show the importance of this gene in promoting Ca(2+) flux in immune cells and mounting effective immune response. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3 UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Pseudogenes of this locus have been identified on chromosomes 6 and 19.[provided by RefSeq, Aug 2017]
SELENOM	chr22	31104772	31120069	-	ENSG00000198832.10	protein_coding	SELM|SEPM	22q12.2	selenoprotein M	The protein encoded by this gene belongs to the selenoprotein M/SEP15 family. The exact function of this protein is not known. It is localized in the perinuclear region, is highly expressed in the brain, and may be involved in neurodegenerative disorders. Transgenic mice with targeted deletion of this gene exhibit increased weight gain, suggesting a role for this gene in the regulation of body weight and energy metabolism. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3 UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. [provided by RefSeq, Dec 2016]
SELENON	chr1	25800176	25818224	+	ENSG00000162430.16	protein_coding	CFTD|MDRS1|RSMD1|RSS|SELN|SEPN1	1p36.11	selenoprotein N	This gene encodes a glycoprotein that is localized in the endoplasmic reticulum. It plays an important role in cell protection against oxidative stress, and in the regulation of redox-related calcium homeostasis. Mutations in this gene are associated with early onset muscle disorders, referred to as SEPN1-related myopathy. SEPN1-related myopathy consists of 4 autosomal recessive disorders, originally thought to be separate entities: rigid spine muscular dystrophy (RSMD1), the classical form of multiminicore disease, desmin related myopathy with Mallory-body like inclusions, and congenital fiber-type disproportion (CFTD). This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3 UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A second stop-codon redefinition element (SRE) adjacent to the UGA codon has been identified in this gene (PMID:15791204). SRE is a phylogenetically conserved stem-loop structure that stimulates readthrough at the UGA codon, and augments the Sec insertion efficiency by SECIS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2016]
SELENOO	chr22	50200979	50217616	+	ENSG00000073169.13	protein_coding	SELO	22q13.33	selenoprotein O	This gene encodes a selenoprotein that is localized to the mitochondria. It is the largest mammalian selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3 UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The exact function of this selenoprotein is not known, but it is thought to have redox activity. [provided by RefSeq, Dec 2016]
SELENOP	chr5	42799880	42887392	-	ENSG00000250722.5	protein_coding	SELP|SEPP|SEPP1|SeP	5p12	selenoprotein P	This gene encodes a selenoprotein that is predominantly expressed in the liver and secreted into the plasma. This selenoprotein is unique in that it contains multiple selenocysteine (Sec) residues per polypeptide (10 in human), and accounts for most of the selenium in plasma. It has been implicated as an extracellular antioxidant, and in the transport of selenium to extra-hepatic tissues via apolipoprotein E receptor-2 (apoER2). Mice lacking this gene exhibit neurological dysfunction, suggesting its importance in normal brain function. Sec is encoded by the UGA codon, which normally signals translation termination. The 3 UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The mRNA for this selenoprotein contains two SECIS elements. The use of alternative polyadenylation sites, one located in between the two SECIS elements, results in two populations of mRNAs containing either both (predominant) or just the upstream SECIS element (PMID:27881738). Alternatively spliced transcript variants have also been found for this gene. [provided by RefSeq, Oct 2018]
SELENOS	chr15	101270817	101277500	-	ENSG00000131871.14	protein_coding	AD-015|ADO15|SBBI8|SELS|SEPS1|VIMP	15q26.3	selenoprotein S	This gene encodes a transmembrane protein that is localized in the endoplasmic reticulum (ER). It is involved in the degradation process of misfolded proteins in the ER, and may also have a role in inflammation control. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3 UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Two additional phylogenetically conserved stem-loop structures (Stem-loop 1 and Stem-loop 2) in the 3 UTR of this mRNA have been shown to function as modulators of Sec insertion. An alternatively spliced transcript variant, lacking the SECIS element and encoding a non-Sec containing shorter isoform, has been described for this gene (PMID:23614019). [provided by RefSeq, Jul 2017]
SELENOV	chr19	39515113	39520686	+	ENSG00000186838.13	protein_coding	SELV	19q13.2	selenoprotein V	This gene encodes a selenoprotein containing a selenocysteine (Sec) residue, which is encoded by the UGA codon that normally signals translation termination. The 3 UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is specifically expressed in the testis. It belongs to the SelWTH family, which possesses a thioredoxin-like fold and a conserved CxxU (C is cysteine, U is Sec) motif, suggesting a redox function for this gene. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Apr 2017]
SELENOW	chr19	47778572	47784686	+	ENSG00000178980.14	protein_coding	SEPW1|selW	19q13.33	selenoprotein W	This gene encodes a selenoprotein containing a selenocysteine (Sec) residue, which is encoded by the UGA codon that normally signals translation termination. The 3 UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is highly expressed in skeletal muscle, heart and brain. It belongs to the SelWTH family, which possesses a thioredoxin-like fold and a conserved CxxU (C is cysteine, U is Sec) motif, suggesting a redox function for this gene. Studies in mouse show that this selenoprotein is involved in muscle growth and differentiation, and in the protection of neurons from oxidative stress during neuronal development. A retroprocessed pseudogene of this locus has been identified on chromosome 1. [provided by RefSeq, Aug 2017]
SELL	chr1	169690667	169711698	-	ENSG00000188404.8	protein_coding	CD62L|LAM1|LECAM1|LEU8|LNHR|LSEL|LYAM1|PLNHR|TQ1	1q24.2	selectin L	This gene encodes a cell surface adhesion molecule that belongs to a family of adhesion/homing receptors. The encoded protein contains a C-type lectin-like domain, a calcium-binding epidermal growth factor-like domain, and two short complement-like repeats. The gene product is required for binding and subsequent rolling of leucocytes on endothelial cells, facilitating their migration into secondary lymphoid organs and inflammation sites. Single-nucleotide polymorphisms in this gene have been associated with various diseases including immunoglobulin A nephropathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
SELP	chr1	169588849	169630193	-	ENSG00000174175.16	protein_coding	CD62|CD62P|GMP140|GRMP|LECAM3|PADGEM|PSEL	1q24.2	selectin P	This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq, Jul 2008]
SELPLG	chr12	108622277	108633959	-	ENSG00000110876.9	protein_coding	CD162|CLA|PSGL-1|PSGL1	12q24.11	selectin P ligand	This gene encodes a glycoprotein that functions as a high affinity counter-receptor for the cell adhesion molecules P-, E- and L- selectin expressed on myeloid cells and stimulated T lymphocytes. As such, this protein plays a critical role in leukocyte trafficking during inflammation by tethering of leukocytes to activated platelets or endothelia expressing selectins. This protein requires two post-translational modifications, tyrosine sulfation and the addition of the sialyl Lewis x tetrasaccharide (sLex) to its O-linked glycans, for its high-affinity binding activity. Aberrant expression of this gene and polymorphisms in this gene are associated with defects in the innate and adaptive immune response. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]
SEMA3A	chr7	83955777	84492724	-	ENSG00000075213.10	protein_coding	COLL1|HH16|Hsema-I|Hsema-III|SEMA1|SEMAD|SEMAIII|SEMAL|SemD|coll-1	7q21.11	semaphorin 3A	This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia and is seen in a variety of human tumor cell lines. Also, aberrant release of this protein is associated with the progression of Alzheimers disease. [provided by RefSeq, Jul 2008]
SEMA3B	chr3	50267558	50277546	+	ENSG00000012171.19	protein_coding	LUCA-1|SEMA5|SEMAA|SemA|semaV	3p21.31	semaphorin 3B	The protein encoded by this gene belongs to the class-3 semaphorin/collapsin family, whose members function in growth cone guidance during neuronal development. This family member inhibits axonal extension and has been shown to act as a tumor suppressor by inducing apoptosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]
SEMA3B-AS1	chr3	50266641	50267371	-	ENSG00000232352.1	antisense	-	3p21.31	SEMA3B antisense RNA 1 (head to head)	-
SEMA3C	chr7	80742538	80922359	-	ENSG00000075223.13	protein_coding	SEMAE|SemE	7q21.11	semaphorin 3C	This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-like domains, and a C-terminal basic domain. Homodimerization and proteolytic cleavage of the C-terminal propeptide are necessary for the function of the encoded protein. It binds a neuropilin co-receptor before forming a heterotrimeric complex with an associated plexin. An increase in the expression of this gene correlates with an increase in cancer cell invasion and adhesion. Naturally occurring mutations in this gene are associated with Hirschsprung disease. [provided by RefSeq, May 2017]
SEMA3D	chr7	84995553	85186855	-	ENSG00000153993.13	protein_coding	Sema-Z2|coll-2	7q21.11	semaphorin 3D	This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin like domain and a C-terminal basic domain. The protein encoded by this gene binds neuropilin and plays an important role in cardiovascular development. [provided by RefSeq, Aug 2016]
SEMA3E	chr7	83363906	83649010	-	ENSG00000170381.12	protein_coding	M-SEMAH|M-SemaK|SEMAH|coll-5	7q21.11	semaphorin 3E	Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
SEMA3F	chr3	50155045	50189075	+	ENSG00000001617.11	protein_coding	SEMA-IV|SEMA4|SEMAK	3p21.31	semaphorin 3F	This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin loop and a C-terminal basic domain. This gene is expressed by the endothelial cells where it was found to act in an autocrine fashion to induce apoptosis, inhibit cell proliferation and survival, and function as an anti-tumorigenic agent. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
SEMA3F-AS1	chr3	50116022	50156085	-	ENSG00000235016.1	antisense	RBM5-AS1	3p21.31	SEMA3F antisense RNA 1	Ubiquitous expression in bone marrow (RPKM 9.8), skin (RPKM 7.3) and 25 other tissues
SEMA3G	chr3	52433053	52445085	-	ENSG00000010319.6	protein_coding	sem2	3p21.1	semaphorin 3G	The transcription of this gene is activated by PPAR-gamma, and the resulting protein product plays a role in endothelial cell migration. Expression of this gene also inhibits tumor cell migration and invasion. [provided by RefSeq, Jul 2016]
SEMA4A	chr1	156147366	156177752	+	ENSG00000196189.12	protein_coding	CORD10|RP35|SEMAB|SEMB	1q22	semaphorin 4A	This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The encoded protein is a single-pass type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI domain and a sema domain. It inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. It is an activator of T-cell-mediated immunity and suppresses vascular endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis in vivo. Mutations in this gene are associated with retinal degenerative diseases including retinitis pigmentosa type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
SEMA4B	chr15	90160604	90229679	+	ENSG00000185033.14	protein_coding	SEMAC|SemC	15q26.1	semaphorin 4B	Ubiquitous expression in esophagus (RPKM 24.0), skin (RPKM 20.0) and 25 other tissues
SEMA4C	chr2	96859716	96870757	-	ENSG00000168758.10	protein_coding	M-SEMA-F|SEMACL1|SEMAF|SEMAI	2q11.2	semaphorin 4C	Ubiquitous expression in placenta (RPKM 20.2), endometrium (RPKM 13.1) and 24 other tissues
SEMA4D	chr9	89360787	89498130	-	ENSG00000187764.11	protein_coding	A8|BB18|C9orf164|CD100|COLL4|GR3|M-sema-G|SEMAJ|coll-4	9q22.2	semaphorin 4D	Broad expression in lymph node (RPKM 12.0), appendix (RPKM 8.6) and 22 other tissues
SEMA4F	chr2	74654228	74683853	+	ENSG00000135622.12	protein_coding	M-SEMA|PRO2353|S4F|SEMAM|SEMAW|m-Sema-M	2p13.1	ssemaphorin 4F	This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
SEMA4G	chr10	100969518	100985871	+	ENSG00000095539.15	protein_coding	-	10q24.31	semaphorin 4G	Broad expression in duodenum (RPKM 18.5), small intestine (RPKM 15.9) and 20 other tissues
SEMA5A	chr5	9035026	9546075	-	ENSG00000112902.11	protein_coding	SEMAF|semF	5p15.31	semaphorin 5A	This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been implicated as an autism susceptibility gene.[provided by RefSeq, Jan 2010]
SEMA5B	chr3	122909193	123028605	-	ENSG00000082684.14	protein_coding	SEMAG|SemG	3q21.1	semaphorin 5B	This gene encodes a member of the semaphorin protein family which regulates axon growth during development of the nervous system. The encoded protein has a characteristic Sema domain near the N-terminus, through which semaphorins bind to plexin, and five thrombospondin type 1 repeats in the C-terminal region of the protein. The protein product may be cleaved and exist as a secreted molecule (PMID: 19463192). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
SEMA6A	chr5	116443616	116574934	-	ENSG00000092421.16	protein_coding	HT018|SEMA|SEMA6A1|SEMAQ|VIA	5q23.1	semaphorin 6A	The transmembrane semaphorin SEMA6A is expressed in developing neural tissue and is required for proper development of the thalamocortical projection (Leighton et al., 2001 [PubMed 11242070]).[supplied by OMIM, Feb 2011]
SEMA6B	chr19	4542593	4559808	-	ENSG00000167680.15	protein_coding	EPM11|SEM-SEMA-Y|SEMA-VIB|SEMAN|semaZ	19p13.3	semaphorin 6B	This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon guidance. The protein encoded by this gene may be involved in both peripheral and central nervous system development. [provided by RefSeq, Jul 2008]
SEMA6C	chr1	151131685	151146664	-	ENSG00000143434.15	protein_coding	SEMAY|m-SemaY|m-SemaY2	1q21.3	semaphorin 6C	This gene encodes a member of the semaphorin family. Semaphorins represent important molecular signals controlling multiple aspects of the cellular response that follows CNS injury, and thus may play an important role in neural regeneration. [provided by RefSeq, May 2010]
SEMA6D	chr15	47184101	47774223	+	ENSG00000137872.16	protein_coding	-	15q21.1	semaphorin 6D	Broad expression in small intestine (RPKM 13.9), placenta (RPKM 10.4) and 19 other tissues
SEMA7A	chr15	74409289	74434467	-	ENSG00000138623.9	protein_coding	CD108|CDw108|H-SEMA-K1|H-Sema-L|JMH|SEMAK1|SEMAL	15q24.1	semaphorin 7A (John Milton Hagen blood group)	This gene encodes a member of the semaphorin family of proteins. The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein. The encoded protein is found on activated lymphocytes and erythrocytes and may be involved in immunomodulatory and neuronal processes. The encoded protein carries the John Milton Hagen (JMH) blood group antigens. Mutations in this gene may be associated with reduced bone mineral density (BMD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
SENCR	chr11	128691672	128696023	-	ENSG00000254703.2	antisense	FLI1-AS1|lncRNA9	11q24.3	smooth muscle and endothelial cell enriched migration/differentiation-associated lncRNA	Broad expression in spleen (RPKM 2.6), placenta (RPKM 0.7) and 16 other tissues
SENP1	chr12	48042898	48106308	-	ENSG00000079387.13	protein_coding	SuPr-2	12q13.11	SUMO specific peptidase 1	This gene encodes a cysteine protease that specifically targets members of the small ubiquitin-like modifier (SUMO) protein family. This protease regulates SUMO pathways by deconjugating sumoylated proteins. This protease also functions to process the precursor SUMO proteins into their mature form. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
SENP2	chr3	185582496	185633551	+	ENSG00000163904.12	protein_coding	AXAM2|SMT3IP2	3q27.2	SUMO specific peptidase 2	SUMO1 (UBL1; MIM 601912) is a small ubiquitin-like protein that can be covalently conjugated to other proteins. SENP2 is one of a group of enzymes that process newly synthesized SUMO1 into the conjugatable form and catalyze the deconjugation of SUMO1-containing species.[supplied by OMIM, Apr 2004]
SENP3	chr17	7561875	7571969	+	ENSG00000161956.12	protein_coding	SMT3IP1|SSP3|Ulp1	17p13.1	SUMO specific peptidase 3	The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for numerous biologic processes. SUMO-specific proteases, such as SENP3, are responsible for the initial processing of SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also have isopeptidase activity for the removal of SUMO from high molecular mass SUMO conjugates (Di Bacco et al., 2006 [PubMed 16738315]).[supplied by OMIM, Jun 2009]
SENP3-EIF4A1	chr17	7563287	7578715	+	ENSG00000277957.1	protein_coding	-	17p13.1	SENP3-EIF4A1 readthrough (NMD candidate)	-
SENP5	chr3	196867856	196934714	+	ENSG00000119231.10	protein_coding	-	3q29	SUMO specific peptidase 5	Ubiquitous expression in testis (RPKM 8.4), brain (RPKM 6.3) and 25 other tissues
SENP6	chr6	75601509	75718278	+	ENSG00000112701.17	protein_coding	SSP1|SUSP1	6q14.1	SUMO specific peptidase 6	Ubiquitin-like molecules (UBLs), such as SUMO1 (UBL1; MIM 601912), are structurally related to ubiquitin (MIM 191339) and can be ligated to target proteins in a similar manner as ubiquitin. However, covalent attachment of UBLs does not result in degradation of the modified proteins. SUMO1 modification is implicated in the targeting of RANGAP1 (MIM 602362) to the nuclear pore complex, as well as in stabilization of I-kappa-B-alpha (NFKBIA; MIM 164008) from degradation by the 26S proteasome. Like ubiquitin, UBLs are synthesized as precursor proteins, with 1 or more amino acids following the C-terminal glycine-glycine residues of the mature UBL protein. Thus, the tail sequences of the UBL precursors need to be removed by UBL-specific proteases, such as SENP6, prior to their conjugation to target proteins (Kim et al., 2000 [PubMed 10799485]). SENPs also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009]
SENP7	chr3	101324205	101513241	-	ENSG00000138468.15	protein_coding	-	3q12.3	SUMO specific peptidase 7	Ubiquitous expression in endometrium (RPKM 9.0), lymph node (RPKM 7.6) and 25 other tissues
SENP8	chr15	72114258	72143688	+	ENSG00000166192.14	protein_coding	DEN1|NEDP1|PRSC2	15q23	SUMO peptidase family member, NEDD8 specific	This gene encodes a cysteine protease that is a member of the sentrin-specific protease family. The encoded protein is involved in processing and deconjugation of the ubiquitin-like protein termed, neural precursor cell expressed developmentally downregulated 8. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
SEPHS1	chr10	13317424	13348298	-	ENSG00000086475.14	protein_coding	SELD|SPS|SPS1	10p13	selenophosphate synthetase 1	This gene encodes an enzyme that synthesizes selenophosphate from selenide and ATP. Selenophosphate is the selenium donor used to synthesize selenocysteine, which is co-translationally incorporated into selenoproteins at in-frame UGA codons. [provided by RefSeq, Sep 2010]
SEPHS1P6	chr2	199659551	199660729	+	ENSG00000213938.3	processed_pseudogene	-	2q33.1	selenophosphate synthetase 1 pseudogene 6	-
SEPHS2	chr16	30443631	30446181	-	ENSG00000179918.18	protein_coding	SPS2	16p11.2	selenophosphate synthetase 2	This gene encodes an enzyme that catalyzes the production of monoselenophosphate (MSP) from selenide and ATP. MSP is the selenium donor required for synthesis of selenocysteine (Sec), which is co-translationally incorporated into selenoproteins at in-frame UGA codons that normally signal translation termination. The 3 UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is itself a selenoprotein containing a Sec residue at its active site, suggesting the existence of an autoregulatory mechanism. It is preferentially expressed in tissues implicated in the synthesis of selenoproteins and in sites of blood cell development. A pseudogene for this locus has been identified on chromosome 5. [provided by RefSeq, May 2017]
SEPSECS	chr4	25120014	25160442	-	ENSG00000109618.11	protein_coding	LP|PCH2D|SLA|SLA/LP	4p15.2	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino acid is synthesized on its cognate tRNA in a three step process. The protein encoded by this gene catalyzes the third step in the process, the conversion of O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec).[provided by RefSeq, Mar 2011]
SEPSECS-AS1	chr4	25160641	25201440	+	ENSG00000281501.1	antisense	-	4p15.2	SEPSECS antisense RNA 1 (head to head)	-
SEPTIN1	chr16	 30378135	30382815	-	ENSG00000180096	protein-coding	DIFF6|LARP|PNUTL3|SEP1|SEPT1	16p11.2	septin 1	This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis and the maintenance of cellular morphology. This gene encodes a protein that can form homo- and heterooligomeric filaments, and may contribute to the formation of neurofibrillary tangles in Alzheimers disease. Alternatively spliced transcript variants have been found but the full-length nature of these variants has not been determined. [provided by RefSeq, Dec 2012]
SEPTIN10	chr2	 109542799	109613966	-	ENSG00000186522	protein-coding	SEPT10	2q13	septin 10	This gene encodes a member of the septin family of cytoskeletal proteins with GTPase activity. This protein localizes to the cytoplasm and nucleus and displays GTP-binding and GTPase activity. A pseudogene for this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
SEPTIN10P1	chr8	 56476630	56478278	-	-	pseudogene	DKFZP564M1416|SEPT10P1	8q12.1	septin 10 pseudogene 1	-
SEPTIN11	chr4	 76949752	77040154	+	ENSG00000138758	protein-coding	SEPT11	4q21.1	septin 11	SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al., 2004 [PubMed 15196925]; Nagata et al., 2004 [PubMed 15485874]).[supplied by OMIM, Jul 2009]
SEPTIN12	chr16	 4777606	4791828	-	ENSG00000140623	protein-coding	SEPT12|SPGF10	16p13.3	septin 12	This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and membrane dynamics. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
SEPTIN14	chr7	 55793540	55862752	-	ENSG00000154997	protein-coding	SEPT14	7p11.2	septin 14	SEPT14 is a member of the highly conserved septin family of GTP-binding cytoskeletal proteins implicated in membrane transport, apoptosis, cell polarity, cell cycle regulation, cytokinesis, and other cellular functions (Peterson et al., 2007 [PubMed 17922164]).[supplied by OMIM, Jul 2008]
SEPTIN2	chr2	 241315355	241354027	+	ENSG00000168385	protein-coding	DIFF6|NEDD-5|NEDD5|Pnutl3|SEPT2|hNedd5	2q37.3	septin 2	Ubiquitous expression in fat (RPKM 77.8), thyroid (RPKM 76.6) and 25 other tissues
SEPTIN3	chr22	 41969443	41998221	+	ENSG00000100167	protein-coding	SEP3|SEPT3|bK250D10.3	22q13.2	septin 3	This gene belongs to the septin family of GTPases. Members of this family are required for cytokinesis. Expression is upregulated by retinoic acid in a human teratocarcinoma cell line. The specific function of this gene has not been determined. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, May 2018]
SEPTIN4	chr17	 58520256	58544328	-	ENSG00000108387	protein-coding	ARTS|BRADEION|C17orf47|CE5B3|H5|MART|PNUTL2|SEP4|SEPT4|hCDCREL-2|hucep-7	17q22	septin 4	This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010]
SEPTIN7-DT	chr7	 35754964	35800625	-	-	ncRNA	SEPT7-AS1|SEPTIN7-AS1	7p14.2	SEPTIN7 divergent transcript	-
SEPTIN7P1	chr14	 35157688	35159099	-	ENSG00000259090	pseudogene	CDC10P|SEPT7P1	14q13.2	septin 7 pseudogene 1	-
SEPTIN7P2	chr7	 45723787	45769018	-	ENSG00000214765	pseudogene	SEPT13|SEPT7B|SEPT7P2	7p12.3	septin 7 pseudogene 2	Septins, such as SEPT13, are conserved GTP-binding proteins that function as dynamic, regulatable scaffolds for the recruitment of other proteins. They are involved in membrane dynamics, vesicle trafficking, apoptosis, and cytoskeleton remodeling, as well as infection, neurodegeneration, and neoplasia (Hall et al., 2005 [PubMed 15915442]).[supplied by OMIM, Jul 2008]
SEPTIN8	chr5	 132750819	132780083	-	ENSG00000164402	protein-coding	SEP2|SEPT8	5q31.1	septin 8	This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
SEPTIN9	chr17	 77281499	77500596	+	ENSG00000184640	protein-coding	AF17q25|MSF|MSF1|NAPB|PNUTL4|SEPT9|SINT1|SeptD1	17q25.3	septin 9	This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009]
SERAC1	chr6	158109515	158168270	-	ENSG00000122335.13	protein_coding	-	6q25.3	serine active site containing 1	Ubiquitous expression in testis (RPKM 4.2), adrenal (RPKM 3.6) and 25 other tissues
SERBP1	chr1	67407810	67430415	-	ENSG00000142864.14	protein_coding	CGI-55|CHD3IP|HABP4L|PAI-RBP1|PAIRBP1	1p31.3	SERPINE1 mRNA binding protein 1	Ubiquitous expression in esophagus (RPKM 40.3), thyroid (RPKM 34.9) and 25 other tissues
SERBP1P3	chr3	53064283	53065091	-	ENSG00000242142.1	processed_pseudogene	-	3p21.1	SERPINE1 mRNA binding protein 1 pseudogene 3	-
SERBP1P6	chr5	42465400	42468868	-	ENSG00000248873.1	processed_pseudogene	-	5p13.1	SERPINE1 mRNA binding protein 1 pseudogene 6	-
SERF1B	chr5	70025247	70043113	+	ENSG00000205572.9	protein_coding	FAM2B|H4F5C|h4F5	5q13.2	small EDRK-rich factor 1B	This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is the centromeric copy which is identical to the telomeric copy. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. The gene encodes a protein of unknown function which bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. [provided by RefSeq, Jul 2008]
SERF2	chr15	43777087	43802589	+	ENSG00000140264.19	protein_coding	4F5REL|FAM2C|H4F5REL|HsT17089	15q15.3	small EDRK-rich factor 2	Ubiquitous expression in prostate (RPKM 57.5), colon (RPKM 53.4) and 25 other tissues
SERGEF	chr11	17788048	18013162	-	ENSG00000129158.10	protein_coding	DELGEF|Gnefr	11p15.1	secretion regulating guanine nucleotide exchange factor	Ubiquitous expression in brain (RPKM 11.3), thyroid (RPKM 11.2) and 25 other tissues
SERHL2	chr22	42553617	42574382	+	ENSG00000183569.17	protein_coding	dJ222E13.1	22q13.2	serine hydrolase like 2	Ubiquitous expression in prostate (RPKM 8.8), ovary (RPKM 8.8) and 24 other tissues
SERINC1	chr6	122443354	122471822	-	ENSG00000111897.6	protein_coding	TDE1L|TDE2|TMS-2|TMS2	6q22.31	serine incorporator 1	Ubiquitous expression in brain (RPKM 241.4), adrenal (RPKM 145.5) and 25 other tissues
SERINC2	chr1	31409565	31434680	+	ENSG00000168528.11	protein_coding	FKSG84|PRO0899|TDE2|TDE2L	1p35.2	serine incorporator 2	Broad expression in urinary bladder (RPKM 35.4), colon (RPKM 35.3) and 17 other tissues
SERINC3	chr20	44496221	44522109	-	ENSG00000132824.13	protein_coding	AIGP1|DIFF33|SBBI99|TDE|TDE1|TMS-1	20q13.12	serine incorporator 3	Ubiquitous expression in brain (RPKM 33.6), testis (RPKM 32.1) and 25 other tissues
SERINC4	chr15	43794162	43800221	-	ENSG00000184716.13	protein_coding	-	15q15.3	serine incorporator 4	Ubiquitous expression in prostate (RPKM 18.4), adrenal (RPKM 16.7) and 25 other tissues
SERINC5	chr5	80111651	80256079	-	ENSG00000164300.16	protein_coding	C5orf12|TPO1	5q14.1	serine incorporator 5	Broad expression in testis (RPKM 21.2), colon (RPKM 21.1) and 24 other tissues
SERP1	chr3	150541994	150603228	-	ENSG00000120742.10	protein_coding	RAMP4	3q25.1	stress associated endoplasmic reticulum protein 1	Ubiquitous expression in thyroid (RPKM 68.2), prostate (RPKM 46.3) and 25 other tissues
SERPINA1	chr14	94376747	94390693	-	ENSG00000197249.13	protein_coding	A1A|A1AT|AAT|PI|PI1|PRO2275|alpha1AT|nNIF	14q32.13	serpin family A member 1	The protein encoded by this gene is a serine protease inhibitor belonging to the serpin superfamily whose targets include elastase, plasmin, thrombin, trypsin, chymotrypsin, and plasminogen activator. This protein is produced in the liver, the bone marrow, by lymphocytic and monocytic cells in lymphoid tissue, and by the Paneth cells of the gut. Defects in this gene are associated with chronic obstructive pulmonary disease, emphysema, and chronic liver disease. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2020]
SERPINA12	chr14	94487274	94517844	-	ENSG00000165953.9	protein_coding	OL-64	14q32.13	serpin family A member 12	Restricted expression toward skin (RPKM 63.5)
SERPINA13P	chr14	94640725	94646994	+	ENSG00000187483.9	transcribed_unprocessed_pseudogene	SERPINA13|UNQ6121	14q32.13	serpin family A member 13, pseudogene	-
SERPINA4	chr14	94561091	94569913	+	ENSG00000100665.11	protein_coding	KAL|KLST|KST|PI-4|PI4|kallistatin	14q32.13	serpin family A member 4	Biased expression in liver (RPKM 98.1), gall bladder (RPKM 28.7) and 2 other tissues
SERPINA5	chr14	94561442	94593120	+	ENSG00000188488.13	protein_coding	PAI-3|PAI3|PCI|PCI-B|PLANH3|PROCI	14q32.13	serpin family A member 5	The protein encoded by this gene is a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. This gene is one in a cluster of serpin genes located on the q arm of chromosome 14. This family member is a glycoprotein that can inhibit several serine proteases, including protein C and various plasminogen activators and kallikreins, and it thus plays diverse roles in hemostasis and thrombosis in multiple organs. [provided by RefSeq, Aug 2012]
SERPINA6	chr14	94304248	94323394	-	ENSG00000170099.5	protein_coding	CBG	14q32.13	serpin family A member 6	This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008]
SERPINB1	chr6	2832332	2842006	-	ENSG00000021355.12	protein_coding	EI|ELANH2|HEL-S-27|HEL57|LEI|M/NEI|MNEI|PI-2|PI2	6p25.2	serpin family B member 1	The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
SERPINB10	chr18	63897174	63936111	+	ENSG00000242550.5	protein_coding	PI-10|PI10	18q22.1	serpin family B member 10	This gene is a member of the serpin peptidase inhibitor, clade B family and is found in a cluster of other similar genes on chromosome 18. The protein encoded by this gene appears to help control the regulation of protease functions during hematopoiesis. Variations in this gene may increase the risk of prostate cancer. [provided by RefSeq, Dec 2015]
SERPINB11	chr18	63647579	63726432	+	ENSG00000206072.12	protein_coding	EPIPIN|SERPIN11	18q21.33	serpin family B member 11	Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Predicted to be located in cytoplasm. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
SERPINB12	chr18	63556160	63567011	+	ENSG00000166634.6	protein_coding	YUKOPIN	18q21.33	serpin family B member 12	Enables serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Part of collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022]
SERPINB13	chr18	63586989	63604639	+	ENSG00000197641.11	protein_coding	HSHUR7SEQ|HUR7|PI13|headpin	18q21.33	serpin family B member 13	The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein inhibits the activity of cathepsin K and is itself transcriptionally repressed by RUNX1. This gene is downregulated in many types of cancer. [provided by RefSeq, Jan 2017]
SERPINB2	chr18	63871692	63903890	+	ENSG00000197632.8	protein_coding	HsT1201|PAI|PAI-2|PAI2|PLANH2	18q21.33-q22.1	serpin family B member 2	Biased expression in esophagus (RPKM 112.4), skin (RPKM 35.4) and 2 other tissues
SERPINB3	chr18	63655197	63661963	-	ENSG00000057149.15	protein_coding	HsT1196|SCC|SCCA-1|SCCA-PD|SCCA1|SSCA1|T4-A	18q21.33	serpin family B member 3	Enables cysteine-type endopeptidase inhibitor activity; protease binding activity; and virus receptor activity. Involved in several processes, including autocrine signaling; paracrine signaling; and regulation of cellular protein metabolic process. Located in cytoplasmic vesicle; extracellular exosome; and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
SERPINB4	chr18	63637259	63644298	-	ENSG00000206073.10	protein_coding	LEUPIN|PI11|SCCA-2|SCCA1|SCCA2	18q21.33	serpin family B member 4	The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein is highly expressed in many tumor cells and can inactivate granzyme M, an enzyme that kills tumor cells. This protein, along with serpin B3, can be processed into smaller fragments that aggregate to form an autoantigen in psoriasis, probably by causing chronic inflammation. [provided by RefSeq, Jan 2017]
SERPINB6	chr6	2948159	2972165	-	ENSG00000124570.17	protein_coding	CAP|DFNB91|MSTP057|PI-6|PI6|PTI|SPI3	6p25.2	serpin family B member 6	The protein encoded by this gene is a member of the serpin (serine proteinase inhibitor) superfamily, and ovalbumin(ov)-serpin subfamily. It was originally discovered as a placental thrombin inhibitor. The mouse homolog was found to be expressed in the hair cells of the inner ear. Mutations in this gene are associated with nonsyndromic progressive hearing loss, suggesting that this serpin plays an important role in the inner ear in the protection against leakage of lysosomal content during stress, and that loss of this protection results in cell death and sensorineural hearing loss. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]
SERPINB7	chr18	63752935	63805376	+	ENSG00000166396.12	protein_coding	MEGSIN|PPKN|TP55	18q21.33	serpin family B member 7	This gene encodes a member of a family of proteins which function as protease inhibitors. Expression of this gene is upregulated in IgA nephropathy and mutations have been found to cause palmoplantar keratoderma, Nagashima type. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
SERPINB8	chr18	63969925	64019779	+	ENSG00000166401.14	protein_coding	C18orf53|CAP2|PI-8|PI8|PSS5	18q22.1	serpin family B member 8	The protein encoded by this gene is a member of the ov-serpin family of serine protease inhibitors. The encoded protein is produced by platelets and can bind to and inhibit the function of furin, a serine protease involved in platelet functions. In addition, this protein has been found to enhance the mechanical stability of cell-cell adhesion in the skin, and defects in this gene have been associated with an autosomal-recessive form of exfoliative ichthyosis. [provided by RefSeq, Jan 2017]
SERPINB9	chr6	2887266	2903280	-	ENSG00000170542.5	protein_coding	CAP-3|CAP3|PI-9|PI9	6p25.2	serpin family B member 9	This gene encodes a member of the serine protease inhibitor family which are also known as serpins. The encoded protein belongs to a subfamily of intracellular serpins. This protein inhibits the activity of the effector molecule granzyme B. Overexpression of this protein may prevent cytotoxic T-lymphocytes from eliminating certain tumor cells. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Mar 2012]
SERPINC1	chr1	173903804	173917378	-	ENSG00000117601.13	protein_coding	AT3|AT3D|ATIII|ATIII-R2|ATIII-T1|ATIII-T2|THPH7	1q25.1	serpin family C member 1	The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. Numerous mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency which constitutes a strong risk factor for thrombosis. A reduction in the serum level of this protein is associated with severe cases of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Sep 2020]
SERPIND1	chr22	20773879	20787720	+	ENSG00000099937.10	protein_coding	D22S673|HC2|HCF2|HCII|HLS2|LS2|THPH10	22q11.21	serpin family D member 1	This gene belongs to the serpin gene superfamily. Serpins play roles in many processes including inflammation, blood clotting, and cancer metastasis. Members of this family have highly conserved secondary structures with a reactive center loop that interacts with the protease active site to inhibit protease activity. This gene encodes a plasma serine protease that functions as a thrombin and chymotrypsin inhibitor. The protein is activated by heparin, dermatan sulfate, and glycosaminoglycans. Allelic variations in this gene are associated with heparin cofactor II deficiency. [provided by RefSeq, Jul 2015]
SERPINE1	chr7	101127089	101139266	+	ENSG00000106366.8	protein_coding	PAI|PAI-1|PAI1|PLANH1	7q22.1	serpin family E member 1	This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. The protein also functions as a component of innate antiviral immunity. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. [provided by RefSeq, Aug 2020]
SERPINE2	chr2	223975112	224039319	-	ENSG00000135919.12	protein_coding	GDN|GDNPF|PI-7|PI7|PN-1|PN1|PNI	2q36.1	serpin family E member 2	This gene encodes a member of the serpin family of proteins, a group of proteins that inhibit serine proteases. Thrombin, urokinase, plasmin and trypsin are among the proteases that this family member can inhibit. This gene is a susceptibility gene for chronic obstructive pulmonary disease and for emphysema. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
SERPINE3	chr13	51335773	51364735	+	ENSG00000253309.6	protein_coding	-	13q14.3	serpin family E member 3	-
SERPINF1	chr17	1761959	1777574	+	ENSG00000132386.10	protein_coding	EPC-1|OI12|OI6|PEDF|PIG35	17p13.3	serpin family F member 1	This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016]
SERPINF2	chr17	1742836	1755268	+	ENSG00000167711.13	protein_coding	A2AP|AAP|ALPHA-2-PI|API|PLI|alpha2AP	17p13.3	serpin family F member 2	This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
SERPING1	chr11	57597387	57614853	+	ENSG00000149131.15	protein_coding	C1IN|C1INH|C1NH|HAE1|HAE2	11q12.1	serpin family G member 1	This gene encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade. Its encoded protein, C1 inhibitor, inhibits activated C1r and C1s of the first complement component and thus regulates complement activation. It is synthesized in the liver, and its deficiency is associated with hereditary angioneurotic oedema (HANE). Alternative splicing results in multiple transcript variants encoding the same isoform. [provided by RefSeq, May 2020]
SERPINH1	chr11	75562056	75572783	+	ENSG00000149257.13	protein_coding	AsTP3|CBP1|CBP2|HSP47|OI10|PIG14|PPROM|RA-A47|SERPINH2|gp46	11q13.5	serpin family H member 1	This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The encoded protein is localized to the endoplasmic reticulum and plays a role in collagen biosynthesis as a collagen-specific molecular chaperone. Autoantibodies to the encoded protein have been found in patients with rheumatoid arthritis. Expression of this gene may be a marker for cancer, and nucleotide polymorphisms in this gene may be associated with preterm birth caused by preterm premature rupture of membranes. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, May 2011]
SERPINH1P1	chr9	34318407	34319655	+	ENSG00000229207.1	processed_pseudogene	SERPINHP1|bA571F15.6|pshsp47	9p13.3	serpin family H member 1 pseudogene 1	-
SERPINI1	chr3	167735243	167825568	+	ENSG00000163536.12	protein_coding	HNS-S1|HNS-S2|PI12|neuroserpin	3q26.1	serpin family I member 1	This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
SERTAD1	chr19	40421592	40426025	-	ENSG00000197019.4	protein_coding	SEI1|TRIP-Br1|TRIPBR1	19q13.2	SERTA domain containing 1	Ubiquitous expression in bone marrow (RPKM 19.1), gall bladder (RPKM 14.1) and 25 other tissues
SERTAD2	chr2	64631621	64751005	-	ENSG00000179833.4	protein_coding	Sei-2|TRIP-Br2|TRIPBR2	2p14	SERTA domain containing 2	Ubiquitous expression in bone marrow (RPKM 29.6), esophagus (RPKM 11.9) and 24 other tissues
SERTAD3	chr19	40440844	40444705	-	ENSG00000167565.12	protein_coding	RBT1	19q13.2	SERTA domain containing 3	The protein encoded by this gene was identified in a yeast two-hybrid assay employing the second subunit of human replication protein A as bait. It is localized to the nucleus and its expression is significantly higher in cancer cell lines compared to normal cell lines. This protein has also been shown to be a strong transcriptional co-activator. Alternative splicing has been observed at this locus and two variants, both encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
SERTAD4	chr1	210232799	210246631	+	ENSG00000082497.11	protein_coding	DJ667H12.2	1q32.2	SERTA domain containing 4	Broad expression in endometrium (RPKM 2.8), salivary gland (RPKM 2.4) and 20 other tissues
SERTM1	chr13	36673912	36697839	+	ENSG00000180440.3	protein_coding	C13orf36	13q13.3	serine rich and transmembrane domain containing 1	Biased expression in brain (RPKM 12.4), endometrium (RPKM 5.9) and 4 other tissues
SESN1	chr6	108986437	109094819	-	ENSG00000080546.13	protein_coding	PA26|SEST1	6q21	sestrin 1	This gene encodes a member of the sestrin family. Sestrins are induced by the p53 tumor suppressor protein and play a role in the cellular response to DNA damage and oxidative stress. The encoded protein mediates p53 inhibition of cell growth by activating AMP-activated protein kinase, which results in the inhibition of the mammalian target of rapamycin protein. The encoded protein also plays a critical role in antioxidant defense by regenerating overoxidized peroxiredoxins, and the expression of this gene is a potential marker for exposure to radiation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
SESN2	chr1	28259527	28282491	+	ENSG00000130766.4	protein_coding	HI95|SES2|SEST2	1p35.3	sestrin 2	This gene encodes a member of the sestrin family of PA26-related proteins. The encoded protein may function in the regulation of cell growth and survival. This protein may be involved in cellular response to different stress conditions. [provided by RefSeq, Jul 2008]
SESN3	chr11	95165513	95232541	-	ENSG00000149212.11	protein_coding	SEST3	11q21	sestrin 3	This gene encodes a member of the sestrin family of stress-induced proteins. The encoded protein reduces the levels of intracellular reactive oxygen species induced by activated Ras downstream of RAC-alpha serine/threonine-protein kinase (Akt) and FoxO transcription factor. The protein is required for normal regulation of blood glucose, insulin resistance and plays a role in lipid storage in obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
SESTD1	chr2	179101692	179264790	-	ENSG00000187231.13	protein_coding	SOLO	2q31.2	SEC14 and spectrin domain containing 1	Ubiquitous expression in fat (RPKM 11.0), lung (RPKM 7.2) and 24 other tissues
SET	chr9	128683424	128696400	+	ENSG00000119335.16	protein_coding	2PP2A|I2PP2A|IGAAD|IPP2A2|MRD58|PHAPII|TAF-I|TAF-IBETA	9q34.11	SET nuclear proto-oncogene	The protein encoded by this gene inhibits acetylation of nucleosomes, especially histone H4, by histone acetylases (HAT). This inhibition is most likely accomplished by masking histone lysines from being acetylated, and the consequence is to silence HAT-dependent transcription. The encoded protein is part of a complex localized to the endoplasmic reticulum but is found in the nucleus and inhibits apoptosis following attack by cytotoxic T lymphocytes. This protein can also enhance DNA replication of the adenovirus genome. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
SETBP1	chr18	44680173	45068510	+	ENSG00000152217.16	protein_coding	MRD29|SEB	18q12.3	SET binding protein 1	This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
SETD1A	chr16	30957294	30984664	+	ENSG00000099381.17	protein_coding	EPEDD|KMT2F|NEDSID|Set1|Set1A	16p11.2	SET domain containing 1A, histone lysine methyltransferase	The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally mark the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily. [provided by RefSeq, Dec 2016]
SETD1B	chr12	121804180	121832584	+	ENSG00000139718.10	protein_coding	IDDSELD|KMT2G|Set1B	12q24.31	SET domain containing 1B, histone lysine methyltransferase	SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Mar 2008]
SETD2	chr3	47016429	47163967	-	ENSG00000181555.20	protein_coding	HBP231|HIF-1|HIP-1|HSPC069|HYPB|KMT3A|LLS|SET2|p231HBP	3p21.31	SET domain containing 2, histone lysine methyltransferase	Huntingtons disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]
SETD3	chr14	99397746	99480889	-	ENSG00000183576.12	protein_coding	C14orf154|hSETD3	14q32.2	SET domain containing 3, actin histidine methyltransferase	Ubiquitous expression in testis (RPKM 33.6), kidney (RPKM 26.5) and 25 other tissues
SETD4	chr21	36034541	36079389	-	ENSG00000185917.13	protein_coding	C21orf18|C21orf27	21q22.12	SET domain containing 4	Ubiquitous expression in testis (RPKM 7.1), skin (RPKM 4.7) and 25 other tissues
SETD5	chr3	9397615	9479240	+	ENSG00000168137.15	protein_coding	-	3p25.3	SET domain containing 5	Ubiquitous expression in brain (RPKM 9.1), thyroid (RPKM 9.1) and 25 other tissues
SETD6	chr16	58515479	58521181	+	ENSG00000103037.11	protein_coding	-	16q21	SET domain containing 6, protein lysine methyltransferase	Ubiquitous expression in testis (RPKM 13.6), skin (RPKM 9.3) and 25 other tissues
SETD9	chr5	56909260	56925532	+	ENSG00000155542.11	protein_coding	C5orf35	5q11.2	SET domain containing 9	Broad expression in testis (RPKM 3.4), colon (RPKM 1.3) and 25 other tissues
SETDB1	chr1	150926263	150964744	+	ENSG00000143379.12	protein_coding	ESET|H3-K9-HMTase4|KG1T|KMT1E|TDRD21	1q21.3	SET domain bifurcated histone lysine methyltransferase 1	This gene encodes a histone methyltransferase which regulates histone methylation, gene silencing, and transcriptional repression. This gene has been identified as a target for treatment in Huntington Disease, given that gene silencing and transcription dysfunction likely play a role in the disease pathogenesis. Alternatively spliced transcript variants of this gene have been described.[provided by RefSeq, Jun 2011]
SETDB2	chr13	49444374	49495003	+	ENSG00000136169.16	protein_coding	C13orf4|CLLD8|CLLL8|KMT1F	13q14.2	SET domain bifurcated histone lysine methyltransferase 2	This gene encodes a member of a family of proteins that contain a methyl-CpG-binding domain (MBD) and a SET domain and function as histone methyltransferases. This protein is recruited to heterochromatin and plays a role in the regulation of chromosome segregation. This region is commonly deleted in chronic lymphocytic leukemia. Naturally-occuring readthrough transcription occurs from this gene to the downstream PHF11 (PHD finger protein 11) gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
SETMAR	chr3	4303304	4317567	+	ENSG00000170364.12	protein_coding	METNASE|Mar1	3p26.1	SET domain and mariner transposase fusion gene	This gene encodes a fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA repair activities including non-homologous end joining and double strand break repair. The SET domain portion of this protein specifically methylates histone H3 lysines 4 and 36. This gene exists as a fusion gene only in anthropoid primates, other organisms lack mariner transposase domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
SETP17	chr11	86294760	86295576	+	ENSG00000255222.1	processed_pseudogene	-	11q14.2	SET pseudogene 17	-
SETX	chr9	132261356	132354985	-	ENSG00000107290.13	protein_coding	ALS4|AOA2|SCAN2|SCAR1|Sen1|bA479K20.2	9q34.13	senataxin	This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]
SEZ6	chr17	28954901	29006440	-	ENSG00000063015.19	protein_coding	BSRPC	17q11.2	seizure related 6 homolog	The protein encoded by this gene is thought to contain five cysteine-rich motifs that are similar to sushi domains, as well as two domains similar to the amino terminal half of the CUB (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene have been associated with febrile seizures. [provided by RefSeq, Jul 2016]
SEZ6L2	chr16	29871159	29899547	-	ENSG00000174938.14	protein_coding	BSRPA|PSK-1	16p11.2	seizure related 6 homolog like 2	This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
SF1	chr11	64764606	64778786	-	ENSG00000168066.20	protein_coding	BBP|D11S636|MBBP|ZCCHC25|ZFM1|ZNF162	11q13.1	splicing factor 1	This gene encodes a nuclear pre-mRNA splicing factor. The encoded protein specifically recognizes the intron branch point sequence at the 3 splice site, together with the large subunit of U2 auxiliary factor (U2AF), and is required for the early stages of spliceosome assembly. It also plays a role in nuclear pre-mRNA retention and transcriptional repression. The encoded protein contains an N-terminal U2AF ligand motif, a central hnRNP K homology motif and quaking 2 region which bind a key branch-site adenosine within the branch point sequence, a zinc knuckles domain, and a C-terminal proline-rich domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
SF3A1	chr22	30331988	30356947	-	ENSG00000099995.18	protein_coding	PRP21|PRPF21|SAP114|SF3A120	22q12.2	splicing factor 3a subunit 1	This gene encodes a subunit of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer is a component of the mature U2 small nuclear ribonucleoprotein particle (snRNP). U2 small nuclear ribonucleoproteins play a critical role in spliceosome assembly and pre-mRNA splicing. [provided by RefSeq, Aug 2014]
SF3A2	chr19	2236504	2248679	+	ENSG00000104897.9	protein_coding	PRP11|PRPF11|SAP62|SF3a66	19p13.3	splicing factor 3a subunit 2	This gene encodes subunit 2 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 2 interacts with subunit 1 through its amino-terminus while the single zinc finger domain of subunit 2 plays a role in its binding to the 15S U2 snRNP. Subunit 2 may also function independently of its RNA splicing function as a microtubule-binding protein. [provided by RefSeq, Jul 2008]
SF3A3	chr1	37956975	37990921	-	ENSG00000183431.11	protein_coding	PRP9|PRPF9|SAP61|SF3a60	1p34.3	splicing factor 3a subunit 3	This gene encodes subunit 3 of the splicing factor 3a protein complex. The splicing factor 3a heterotrimer includes subunits 1, 2 and 3 and is necessary for the in vitro conversion of 15S U2 snRNP into an active 17S particle that performs pre-mRNA splicing. Subunit 3 interacts with subunit 1 through its amino-terminus while the zinc finger domain of subunit 3 plays a role in its binding to the 15S U2 snRNP. This gene has a pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
SF3B1	chr2	197389784	197435091	-	ENSG00000115524.15	protein_coding	Hsh155|MDS|PRP10|PRPF10|SAP155|SF3b155	2q33.1	splicing factor 3b subunit 1	This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the introns branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
SF3B2	chr11	66050729	66069308	+	ENSG00000087365.15	protein_coding	Cus1|SAP145|SF3B145|SF3b1|SF3b150	11q13.1	splicing factor 3b subunit 2	This gene encodes subunit 2 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the introns branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 2 associates with pre-mRNA upstream of the branch site at the anchoring site. Subunit 2 also interacts directly with subunit 4 of the splicing factor 3b complex. Subunit 2 is a highly hydrophilic protein with a proline-rich N-terminus and a glutamate-rich stretch in the C-terminus. [provided by RefSeq, Jul 2008]
SF3B3	chr16	70523788	70577670	+	ENSG00000189091.12	protein_coding	RSE1|SAP130|SF3b130|STAF130	16q22.1	splicing factor 3b subunit 3	This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the introns branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair. [provided by RefSeq, Jul 2008]
SF3B4	chr1	149923317	149928344	-	ENSG00000143368.9	protein_coding	AFD1|Hsh49|SAP49|SF3b49	1q21.2	splicing factor 3b subunit 4	This gene encodes one of four subunits of the splicing factor 3B. The protein encoded by this gene cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes. In addition to RNA-binding activity, this protein interacts directly and highly specifically with subunit 2 of the splicing factor 3B. This protein contains two N-terminal RNA-recognition motifs (RRMs), consistent with the observation that it binds directly to pre-mRNA. [provided by RefSeq, Jul 2008]
SF3B5	chr6	144094881	144095573	-	ENSG00000169976.6	protein_coding	SF3b10|Ysf3	6q24.2	splicing factor 3b subunit 5	Enables RNA binding activity and splicing factor binding activity. Involved in mRNA splicing, via spliceosome. Located in nucleoplasm. Part of U12-type spliceosomal complex and U2-type precatalytic spliceosome. [provided by Alliance of Genome Resources, Apr 2022]
SF3B6	chr2	24067584	24076443	-	ENSG00000115128.6	protein_coding	CGI-110|HSPC175|Ht006|P14|SAP14|SAP14a|SF3B14|SF3B14a	2p23.3	splicing factor 3b subunit 6	This gene encodes a 14 kDa protein subunit of the splicing factor 3b complex. Splicing factor 3b associates with both the U2 and U11/U12 small nuclear ribonucleoprotein complexes (U2 snRNP) of spliceosomes. This 14 kDa protein interacts directly with subunit 1 of the splicing factor 3b complex. This 14 kDa protein also interacts directly with the adenosine that carries out the first transesterification step of splicing at the pre-mRNA branch site. [provided by RefSeq, Jul 2008]
SFI1	chr22	31488688	31618586	+	ENSG00000198089.15	protein_coding	PISD|PPP1R139|hSfi1p	22q12.2	SFI1 centrin binding protein	Broad expression in lymph node (RPKM 6.7), spleen (RPKM 6.6) and 25 other tissues
SFMBT1	chr3	52903572	53046750	-	ENSG00000163935.13	protein_coding	RU1|SFMBT|hSFMBT	3p21.1	Scm like with four mbt domains 1	This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. [provided by RefSeq, Jun 2012]
SFMBT2	chr10	7158624	7411486	-	ENSG00000198879.11	protein_coding	-	10p14	Scm like with four mbt domains 2	Ubiquitous expression in thyroid (RPKM 4.8), ovary (RPKM 4.5) and 24 other tissues
SFN	chr1	26863138	26864457	+	ENSG00000175793.11	protein_coding	YWHAS	1p36.11	stratifin	This gene encodes a cell cycle checkpoint protein. The encoded protein binds to translation and initiation factors and functions as a regulator of mitotic translation. In response to DNA damage this protein plays a role in preventing DNA errors during mitosis. [provided by RefSeq, Aug 2017]
SFPQ	chr1	35176378	35193148	-	ENSG00000116560.10	protein_coding	POMP100|PPP1R140|PSF	1p34.3	splicing factor proline and glutamine rich	Ubiquitous expression in bone marrow (RPKM 84.2), skin (RPKM 34.9) and 25 other tissues
SFR1	chr10	104122058	104126385	+	ENSG00000156384.14	protein_coding	C10orf78|MEI5|MEIR5|bA373N18.1	10q25.1	SWI5 dependent homologous recombination repair protein 1	Broad expression in testis (RPKM 6.8), appendix (RPKM 2.8) and 25 other tissues
SFRP1	chr8	41261958	41309497	-	ENSG00000104332.11	protein_coding	FRP|FRP-1|FRP1|FrzA|SARP2	8p11.21	secreted frizzled related protein 1	This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. Members of this family act as soluble modulators of Wnt signaling; epigenetic silencing of SFRP genes leads to deregulated activation of the Wnt-pathway which is associated with cancer. This gene may also be involved in determining the polarity of photoreceptor cells in the retina. [provided by RefSeq, Sep 2009]
SFRP2	chr4	153780592	153789120	-	ENSG00000145423.4	protein_coding	FRP-2|SARP1|SDF-5	4q31.3	secreted frizzled related protein 2	This gene encodes a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. Methylation of this gene is a potential marker for the presence of colorectal cancer. [provided by RefSeq, Jul 2008]
SFRP4	chr7	37905932	38025695	-	ENSG00000106483.11	protein_coding	FRP-4|FRPHE|FRZB-2|PYL|sFRP-4	7p14.1	secreted frizzled related protein 4	Secreted frizzled-related protein 4 (SFRP4) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. The expression of SFRP4 in ventricular myocardium correlates with apoptosis related gene expression. [provided by RefSeq, Jul 2008]
SFSWAP	chr12	131711081	131799737	+	ENSG00000061936.9	protein_coding	SFRS8|SWAP	12q24.33	splicing factor SWAP	This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]
SFT2D1	chr6	166319728	166342591	-	ENSG00000198818.9	protein_coding	C6orf83|pRGR1	6q27	SFT2 domain containing 1	Ubiquitous expression in prostate (RPKM 27.1), colon (RPKM 26.8) and 25 other tissues
SFT2D2	chr1	168225938	168253025	+	ENSG00000213064.9	protein_coding	UNQ512|dJ747L4.C1.2	1q24.2	SFT2 domain containing 2	Predicted to be involved in protein transport and vesicle-mediated transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
SFTA2	chr6	30931353	30955636	-	ENSG00000196260.4	protein_coding	GSGL541|SFTPG|SP-G|UNQ541	6p21.33	surfactant associated 2	Restricted expression toward lung (RPKM 71.0)
SFTPA1	chr10	79610939	79615455	+	ENSG00000122852.14	protein_coding	COLEC4|PSAP|PSP-A|PSPA|SFTP1|SFTPA1B|SP-A|SP-A1|SP-A1 beta|SP-A1 delta|SP-A1 epsilon|SP-A1 gamma|SPA|SPA1	10q22.3	surfactant protein A1	This gene encodes a lung surfactant protein that is a member of a subfamily of C-type lectins called collectins. The encoded protein binds specific carbohydrate moieties found on lipids and on the surface of microorganisms. This protein plays an essential role in surfactant homeostasis and in the defense against respiratory pathogens. Mutations in this gene are associated with idiopathic pulmonary fibrosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
SFTPA2	chr10	79555852	79560402	-	ENSG00000185303.16	protein_coding	COLEC5|PSAP|PSP-A|PSPA|SFTP1|SFTPA2B|SP-2A|SP-A|SPA2|SPAII	10q22.3	surfactant protein A2	This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. Mutations in this gene and a highly similar gene located nearby, which affect the highly conserved carbohydrate recognition domain, are associated with idiopathic pulmonary fibrosis. The current version of the assembly displays only a single centromeric SFTPA gene pair rather than the two gene pairs shown in the previous assembly which were thought to have resulted from a duplication. [provided by RefSeq, Sep 2009]
SFTPB	chr2	85657314	85668741	-	ENSG00000168878.16	protein_coding	PSP-B|SFTB3|SFTP3|SMDP1|SP-B	2p11.2	surfactant protein B	This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. The SPB enhances the rate of spreading and increases the stability of surfactant monolayers in vitro. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 1, also called pulmonary alveolar proteinosis due to surfactant protein B deficiency, and are associated with fatal respiratory distress in the neonatal period. Alternatively spliced transcript variants encoding the same protein have been identified.[provided by RefSeq, Feb 2010]
SFTPC	chr8	22156913	22164479	+	ENSG00000168484.12	protein_coding	BRICD6|PSP-C|SFTP2|SMDP2|SP-C|SP5	8p21.3	surfactant protein C	This gene encodes the pulmonary-associated surfactant protein C (SPC), an extremely hydrophobic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% proteins which include plasma proteins and apolipoproteins SPA, SPB, SPC and SPD. The surfactant is secreted by the alveolar cells of the lung and maintains the stability of pulmonary tissue by reducing the surface tension of fluids that coat the lung. Multiple mutations in this gene have been identified, which cause pulmonary surfactant metabolism dysfunction type 2, also called pulmonary alveolar proteinosis due to surfactant protein C deficiency, and are associated with interstitial lung disease in older infants, children, and adults. Alternatively spliced transcript variants encoding different protein isoforms have been identified.[provided by RefSeq, Feb 2010]
SFTPD	chr10	79937740	79982614	-	ENSG00000133661.15	protein_coding	COLEC7|PSP-D|SFTP4|SP-D	10q22.3	surfactant protein D	The protein encoded by this gene is part of the innate immune response, protecting the lungs against inhaled microorganisms and chemicals. The encoded protein may also be involved in surfactant metabolism. [provided by RefSeq, Jul 2015]
SFXN2	chr10	102714538	102743492	+	ENSG00000156398.12	protein_coding	SLC56A2	10q24.32	sideroflexin 2	Broad expression in kidney (RPKM 25.3), thyroid (RPKM 4.8) and 16 other tissues
SFXN3	chr10	101031234	101041244	+	ENSG00000107819.13	protein_coding	BA108L7.2|SFX3|SLC56A3	10q24.31	sideroflexin 3	Ubiquitous expression in small intestine (RPKM 25.7), duodenum (RPKM 19.3) and 23 other tissues
SFXN4	chr10	119140767	119165667	-	ENSG00000183605.16	protein_coding	BCRM1|COXPD18|SLC56A4	10q26.11	sideroflexin 4	This gene encodes a member of the sideroflexin family. The encoded protein is a transmembrane protein of the inner mitochondrial membrane, and is required for mitochondrial respiratory homeostasis and erythropoiesis. Mutations in this gene are associated with mitochondriopathy and macrocytic anemia. Alternatively spliced transcript variants have been found in this gene. [provided by RefSeq, Jan 2014]
SFXN5	chr2	72942036	73075619	-	ENSG00000144040.12	protein_coding	BBG-TCC|SLC56A5	2p13.2	sideroflexin 5	Broad expression in brain (RPKM 13.0), liver (RPKM 3.8) and 20 other tissues
SGCA	chr17	50164214	50175931	+	ENSG00000108823.15	protein_coding	50DAG|ADL|DAG2|DMDA2|LGMD2D|LGMDR3|SCARMD1|adhalin	17q21.33	sarcoglycan alpha	This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
SGCB	chr4	52020706	52038482	-	ENSG00000163069.12	protein_coding	A3b|LGMD2E|LGMDR4|SGC	4q12	sarcoglycan beta	This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]
SGCD	chr5	155870344	156767788	+	ENSG00000170624.13	protein_coding	35DAG|CMD1L|DAGD|LGMDR6|SG-delta|SGCDP|SGD	5q33.2-q33.3	sarcoglycan delta	The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]
SGCE	chr7	94585230	94656209	-	ENSG00000127990.15	protein_coding	DYT11|ESG|epsilon-SG	7q21.3	sarcoglycan epsilon	This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]
SGF29	chr16	28553915	28591790	+	ENSG00000176476.8	protein_coding	CCDC101|STAF36|TDRD29	16p11.2	SAGA complex associated factor 29	CCDC101 is a subunit of 2 histone acetyltransferase complexes: the ADA2A (TADA2A; MIM 602276)-containing (ATAC) complex and the SPT3 (SUPT3H; MIM 602947)-TAF9 (MIM 600822)-GCN5 (KAT2A; MIM 602301)/PCAF (KAT2B; MIM 602303) acetylase (STAGA) complex. Both of these complexes contain either GCN5 or PCAF, which are paralogous acetyltransferases (Wang et al., 2008 [PubMed 18838386]).[supplied by OMIM, Apr 2010]
SGIP1	chr1	66533383	66748299	+	ENSG00000118473.21	protein_coding	-	1p31.3	SH3GL interacting endocytic adaptor 1	Biased expression in brain (RPKM 8.0), endometrium (RPKM 2.4) and 11 other tissues
SGK1	chr6	134169246	134318112	-	ENSG00000118515.11	protein_coding	SGK	6q23.2	serum/glucocorticoid regulated kinase 1	This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. High levels of expression of this gene may contribute to conditions such as hypertension and diabetic nephropathy. Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
SGK2	chr20	43558968	43588237	+	ENSG00000101049.14	protein_coding	H-SGK2|dJ138B7.2	20q13.12	serum/glucocorticoid regulated kinase 2	This gene encodes a serine/threonine protein kinase. Although this gene product is similar to serum- and glucocorticoid-induced protein kinase (SGK), this gene is not induced by serum or glucocorticoids. This gene is induced in response to signals that activate phosphatidylinositol 3-kinase, which is also true for SGK. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]
SGMS1	chr10	50305586	50625163	-	ENSG00000198964.13	protein_coding	MOB|MOB1|SMS1|TMEM23|hmob33	10q11.23	sphingomyelin synthase 1	The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008]
SGMS1-AS1	chr10	50624951	50641451	+	ENSG00000226200.6	antisense	-	10q11.23	SGMS1 antisense RNA 1	Ubiquitous expression in testis (RPKM 1.9), thyroid (RPKM 1.6) and 25 other tissues
SGO1	chr3	20160593	20186292	-	ENSG00000129810.14	protein_coding	CAID|NY-BR-85|SGO|SGOL1	3p24.3	shugoshin 1	The protein encoded by this gene is a member of the shugoshin family of proteins. This protein is thought to protect centromeric cohesin from cleavage during mitotic prophase by preventing phosphorylation of a cohesin subunit. Reduced expression of this gene leads to the premature loss of centromeric cohesion, mis-segregation of sister chromatids, and mitotic arrest. Evidence suggests that this protein also protects a small subset of cohesin found along the length of the chromosome arms during mitotic prophase. An isoform lacking exon 6 has been shown to play a role in the cohesion of centrioles (PMID: 16582621 and PMID:18331714). Mutations in this gene have been associated with Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome, characterized by the co-occurrence of Sick Sinus Syndrome (SSS) and Chronic Intestinal Pseudo-obstruction (CIPO) within the first four decades of life (PMID:25282101). Fibroblast cells from CAID patients exhibited both increased cell proliferation and higher rates of senescence. Pseudogenes of this gene have been found on chromosomes 1 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
SGO2	chr2	200510008	200583782	+	ENSG00000163535.17	protein_coding	SGOL2|TRIPIN	2q33.1	shugoshin 2	Biased expression in testis (RPKM 14.8), lymph node (RPKM 3.1) and 10 other tissues
SGPL1	chr10	70815961	70881173	+	ENSG00000166224.16	protein_coding	NPHS14|S1PL|SPL	10q22.1	sphingosine-1-phosphate lyase 1	Enables sphinganine-1-phosphate aldolase activity. Involved in apoptotic signaling pathway; fatty acid metabolic process; and sphingolipid metabolic process. Located in endoplasmic reticulum. Implicated in nephrotic syndrome type 14. [provided by Alliance of Genome Resources, Apr 2022]
SGPP2	chr2	222424517	222560948	+	ENSG00000163082.9	protein_coding	SPP2|SPPase2	2q36.1	sphingosine-1-phosphate phosphatase 2	The protein encoded by this gene is a transmembrane protein that degrades the bioactive signaling molecule sphingosine 1-phosphate. The encoded protein is induced during inflammatory responses and has been shown to be downregulated by the microRNA-31 tumor suppressor. Alternative splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2016]
SGSH	chr17	80206716	80220923	-	ENSG00000181523.12	protein_coding	HSS|MPS3A|SFMD	17q25.3	N-sulfoglucosamine sulfohydrolase	This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017]
SGSM2	chr17	2337498	2381058	+	ENSG00000141258.12	protein_coding	RUTBC1	17p13.3	small G protein signaling modulator 2	The protein encoded by this gene is a GTPase activator with activity towards RAB32 and RAB33B, which are regulators of membrane trafficking. The encoded protein inactivates RAB32 and can bind RAB9A-GTP, a protein required for RAB32 activation. [provided by RefSeq, Oct 2016]
SGSM3	chr22	40370591	40410289	+	ENSG00000100359.20	protein_coding	CIP85|MAP|RABGAP5|RUSC3|RUTBC3|RabGAP-5|rabGAPLP	22q13.1	small G protein signaling modulator 3	Ubiquitous expression in stomach (RPKM 33.5), prostate (RPKM 23.3) and 25 other tissues
SGTA	chr19	2754714	2783371	-	ENSG00000104969.9	protein_coding	SGT|SGT1|Vpu|alphaSGT|hSGT	19p13.3	small glutamine rich tetratricopeptide repeat co-chaperone alpha	This gene encodes a protein which is capable of interacting with the major nonstructural protein of parvovirus H-1 and 70-kDa heat shock cognate protein; however, its function is not known. Since this transcript is expressed ubiquitously in various tissues, this protein may serve a housekeeping function. [provided by RefSeq, Jul 2008]
SGTB	chr5	65665928	65723035	-	ENSG00000197860.9	protein_coding	SGT2	5q12.3	small glutamine rich tetratricopeptide repeat co-chaperone beta	Broad expression in brain (RPKM 18.1), appendix (RPKM 4.3) and 19 other tissues
SH2B1	chr16	28846600	28874212	+	ENSG00000178188.14	protein_coding	PSM|SH2B	16p11.2	SH2B adaptor protein 1	This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
SH2B2	chr7	102285091	102321711	+	ENSG00000160999.10	protein_coding	APS	7q22.1	SH2B adaptor protein 2	The protein encoded by this gene is expressed in B lymphocytes and contains pleckstrin homology and src homology 2 (SH2) domains. In Burkitts lymphoma cell lines, it is tyrosine-phosphorylated in response to B cell receptor stimulation. Because it binds Shc independent of stimulation and Grb2 after stimulation, it appears to play a role in signal transduction from the receptor to the Shc/Grb2 pathway. [provided by RefSeq, Jun 2009]
SH2B3	chr12	111405948	111451623	+	ENSG00000111252.10	protein_coding	IDDM20|LNK	12q24.12	SH2B adaptor protein 3	This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
SH2D1B	chr1	162395266	162412138	-	ENSG00000198574.5	protein_coding	EAT2	1q23.3	SH2 domain containing 1B	By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 [PubMed 11689425]).[supplied by OMIM, Mar 2008]
SH2D2A	chr1	156806243	156816862	-	ENSG00000027869.11	protein_coding	F2771|SCAP|TSAD|VRAP	1q23.1	SH2 domain containing 2A	This gene encodes an adaptor protein thought to function in T-cell signal transduction. A related protein in mouse is responsible for the activation of lymphocyte-specific protein-tyrosine kinase and functions in downstream signaling. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
SH2D3A	chr19	6752160	6767588	-	ENSG00000125731.12	protein_coding	NSP1	19p13.3	SH2 domain containing 3A	Broad expression in stomach (RPKM 5.1), colon (RPKM 4.9) and 20 other tissues
SH2D3C	chr9	127738317	127778741	-	ENSG00000095370.19	protein_coding	CHAT|NSP3|PRO34088|SHEP1	9q34.11	SH2 domain containing 3C	This gene encodes an adaptor protein and member of a cytoplasmic protein family involved in cell migration. The encoded protein contains a putative Src homology 2 (SH2) domain and guanine nucleotide exchange factor-like domain which allows this signaling protein to form a complex with scaffolding protein Crk-associated substrate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
SH2D4A	chr8	19313617	19396218	+	ENSG00000104611.11	protein_coding	PPP1R38|SH2A	8p21.3	SH2 domain containing 4A	Enables phosphatase binding activity. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
SH2D5	chr1	20719732	20732837	-	ENSG00000189410.11	protein_coding	-	1p36.12	SH2 domain containing 5	-
SH2D6	chr2	85418721	85437029	+	ENSG00000152292.16	protein_coding	-	2p11.2	SH2 domain containing 6	-
SH2D7	chr15	78077808	78104909	+	ENSG00000183476.12	protein_coding	-	15q25.1	SH2 domain containing 7	-
SH3BGR	chr21	39445855	39515506	+	ENSG00000185437.13	protein_coding	21-GARP	21q22.2	SH3 domain binding glutamate rich protein	Biased expression in heart (RPKM 36.2), prostate (RPKM 11.6) and 10 other tissues
SH3BGRL	chrX	81201943	81298547	+	ENSG00000131171.12	protein_coding	HEL-S-115|SH3BGR	Xq21.1	SH3 domain binding glutamate rich protein like	Ubiquitous expression in endometrium (RPKM 90.2), urinary bladder (RPKM 79.0) and 25 other tissues
SH3BGRL2	chr6	79631283	79703659	+	ENSG00000198478.7	protein_coding	-	6q14.1	SH3 domain binding glutamate rich protein like 2	-
SH3BGRL3	chr1	26279176	26281522	+	ENSG00000142669.14	protein_coding	HEL-S-297|SH3BP-1|TIP-B1	1p36.11	SH3 domain binding glutamate rich protein like 3	Ubiquitous expression in appendix (RPKM 140.1), colon (RPKM 114.4) and 25 other tissues
SH3BP1	chr22	37634654	37666932	+	ENSG00000100092.20	protein_coding	ARHGAP43	22q13.1	SH3 domain binding protein 1	This gene encodes a member of the Rho GTPase activating protein (RhoGAP) family. The encoded protein regulates Rac signaling and plays a role in cytoskeletal dynamics, cell motility and epithelial junction formation. This proteins association with the exocyst complex, which tethers secretory vesicles to the plasma membrane, has been demonstrated to be important in cell motility. In a distinct complex, this protein has been shown to regulate epithelial junction formation and morphogenesis. By interacting with the Plexin-D1 cell surface receptor, this protein mediates changes in the cytoskeleton in response to semaphorin binding. This protein may promote metastasis in human liver cancer cells and tissues. [provided by RefSeq, Mar 2017]
SH3BP2	chr4	2793023	2841098	+	ENSG00000087266.15	protein_coding	3BP-2|3BP2|CRBM|CRPM|RES4-23	4p16.3	SH3 domain binding protein 2	The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
SH3BP5	chr3	15254853	15341368	-	ENSG00000131370.15	protein_coding	SAB|SH3BP-5	3p25.1	SH3 domain binding protein 5	Ubiquitous expression in adrenal (RPKM 64.1), fat (RPKM 35.1) and 24 other tissues
SH3BP5-AS1	chr3	15254184	15264493	+	ENSG00000224660.1	antisense	-	3p25.1	SH3BP5 antisense RNA 1	-
SH3D19	chr4	151102751	151325632	-	ENSG00000109686.17	protein_coding	EBP|EVE1|Eve-1|Kryn|SH3P19	4q31.3	SH3 domain containing 19	This gene encodes a multiple SH3 domain-containing protein, which interacts with other proteins, such as EBP and members of ADAM family, via the SH3 domains. This protein may be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1 by EBP, and regulation of ADAM proteins in the signaling of EGFR-ligand shedding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
SH3D21	chr1	36306387	36324886	+	ENSG00000214193.10	protein_coding	C1orf113	1p34.3	SH3 domain containing 21	Broad expression in small intestine (RPKM 7.0), skin (RPKM 5.6) and 23 other tissues
SH3GL1	chr19	4360370	4400547	-	ENSG00000141985.9	protein_coding	CNSA1|EEN|SH3D2B|SH3P8	19p13.3	SH3 domain containing GRB2 like 1, endophilin A2	This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
SH3GL1P1	chr17	32039974	32042828	+	ENSG00000266777.1	transcribed_processed_pseudogene	CNSA-P1|SH3GLP1	17q11.2	SH3 domain containing GRB2 like 1, endophilin A2 pseudogene 1	-
SH3GL1P2	chr17	30624413	30625494	+	ENSG00000264943.1	processed_pseudogene	CNSA-P2|SH3GLP2	17q11.2	SH3 domain containing GRB2 like 1, endophilin A2 pseudogene 2	-
SH3GL1P3	chr17	68134675	68135604	-	ENSG00000267352.1	processed_pseudogene	CNSA-P3|SH3GLP3	17q24.2	SH3 domain containing GRB2 like 1, endophilin A2 pseudogene 3	-
SH3GL2	chr9	17579082	17797129	+	ENSG00000107295.9	protein_coding	CNSA2|EEN-B1|SH3D2A|SH3P4	9p22.2	SH3 domain containing GRB2 like 2, endophilin A1	Biased expression in brain (RPKM 24.2), kidney (RPKM 2.6) and 1 other tissue
SH3GL3	chr15	83447228	83618743	+	ENSG00000140600.16	protein_coding	CNSA3|EEN-B2|HsT19371|SH3D2C|SH3P13	15q25.2	SH3 domain containing GRB2 like 3, endophilin A3	Biased expression in testis (RPKM 8.3), brain (RPKM 5.2) and 1 other tissue
SH3GLB1	chr1	86704570	86748184	+	ENSG00000097033.14	protein_coding	Bif-1|CGI-61|PPP1R70|dJ612B15.2	1p22.3	SH3 domain containing GRB2 like, endophilin B1	This gene encodes a SRC homology 3 domain-containing protein. The encoded protein interacts with the proapoptotic member of the Bcl-2 family, Bcl-2-associated X protein (Bax) and may be involved in regulating apoptotic signaling pathways. This protein may also be involved in maintaining mitochondrial morphology. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
SH3GLB2	chr9	129007036	129028303	-	ENSG00000148341.17	protein_coding	PP6569|PP9455|RRIG1	9q34.11	SH3 domain containing GRB2 like, endophilin B2	Ubiquitous expression in skin (RPKM 45.1), prostate (RPKM 29.7) and 25 other tissues
SH3KBP1	chrX	19533975	19887601	-	ENSG00000147010.17	protein_coding	AGMX2|CD2BP3|CIN85|GIG10|HSB-1|HSB1|IMD61|MIG18	Xp22.12	SH3 domain containing kinase binding protein 1	This gene encodes an adapter protein that contains one or more N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
SH3PXD2A	chr10	103594027	103855543	-	ENSG00000107957.16	protein_coding	FISH|SH3MD1|TKS5	10q24.33	SH3 and PX domains 2A	Ubiquitous expression in endometrium (RPKM 4.2), ovary (RPKM 3.4) and 25 other tissues
SH3PXD2A-AS1	chr10	103745966	103755423	+	ENSG00000280693.2	antisense	-	10q24.33	SH3PXD2A antisense RNA 1	-
SH3PXD2B	chr5	172325000	172454523	-	ENSG00000174705.12	protein_coding	FAD49|FTHS|HOFI|KIAA1295|TKS4|TSK4	5q35.1	SH3 and PX domains 2B	This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
SH3RF1	chr4	169094256	169271105	-	ENSG00000154447.14	protein_coding	POSH|RNF142|SH3MD2	4q32.3-q33	SH3 domain containing ring finger 1	This gene encodes a protein containing an N-terminus RING-finger, four SH3 domains, and a region implicated in binding of the Rho GTPase Rac. Via the RING-finger, the encoded protein has been shown to function as an ubiquitin-protein ligase involved in protein sorting at the trans-Golgi network. The encoded protein may also act as a scaffold for the c-Jun N-terminal kinase signaling pathway, facilitating the formation of a functional signaling module. [provided by RefSeq, Jul 2008]
SH3RF2	chr5	145936579	146081791	+	ENSG00000156463.17	protein_coding	HEPP1|POSHER|PPP1R39|RNF158	5q32	SH3 domain containing ring finger 2	Biased expression in skin (RPKM 22.7), testis (RPKM 19.4) and 12 other tissues
SH3RF3	chr2	109129348	109504632	+	ENSG00000172985.10	protein_coding	POSH2|SH3MD4	2q13	SH3 domain containing ring finger 3	Ubiquitous expression in testis (RPKM 1.9), gall bladder (RPKM 1.8) and 25 other tissues
SH3RF3-AS1	chr2	109127327	109128930	-	ENSG00000259863.1	lincRNA	-	2q13	SH3RF3 antisense RNA 1	-
SH3TC1	chr4	8182072	8241803	+	ENSG00000125089.16	protein_coding	-	4p16.1	SH3 domain and tetratricopeptide repeats 1	-
SH3TC2	chr5	148923639	149063163	-	ENSG00000169247.11	protein_coding	CMT4C|MNMN	5q32	SH3 domain and tetratricopeptide repeats 2	This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]
SH3YL1	chr2	217730	266398	-	ENSG00000035115.21	protein_coding	RAY	2p25.3	SH3 and SYLF domain containing 1	Ubiquitous expression in kidney (RPKM 16.8), thyroid (RPKM 9.9) and 24 other tissues
SHANK1	chr19	50661827	50719450	-	ENSG00000161681.15	protein_coding	SPANK-1|SSTRIP|synamon	19q13.33	SH3 and multiple ankyrin repeat domains 1	This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses. Deletions in this gene may be associated with autism spectrum disorder in males. [provided by RefSeq, Apr 2016]
SHANK3	chr22	50674415	50733298	+	ENSG00000251322.7	protein_coding	DEL22q13.3|PROSAP2|PSAP2|SCZD15|SPANK-2	22q13.33	SH3 and multiple ankyrin repeat domains 3	This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane proteins to the actin cytoskeleton and G-protein-coupled signaling pathways. Shank proteins also play a role in synapse formation and dendritic spine maturation. Mutations in this gene are a cause of autism spectrum disorder (ASD), which is characterized by impairments in social interaction and communication, and restricted behavioral patterns and interests. Mutations in this gene also cause schizophrenia type 15, and are a major causative factor in the neurological symptoms of 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome. Additional isoforms have been described for this gene but they have not yet been experimentally verified. [provided by RefSeq, Mar 2012]
SHARPIN	chr8	144098633	144108124	-	ENSG00000179526.16	protein_coding	SIPL1	8q24.3	SHANK associated RH domain interactor	Broad expression in testis (RPKM 39.8), fat (RPKM 13.6) and 25 other tissues
SHB	chr9	37919134	38069211	-	ENSG00000107338.9	protein_coding	bA3J10.2	9p13.1	SH2 domain containing adaptor protein B	Ubiquitous expression in liver (RPKM 4.9), kidney (RPKM 3.8) and 25 other tissues
SHBG	chr17	7613946	7633383	+	ENSG00000129214.14	protein_coding	ABP|SBP|TEBG	17p13.1	sex hormone binding globulin	This gene encodes a steroid binding protein that was first described as a plasma protein secreted by the liver but is now thought to participate in the regulation of steroid responses. The encoded protein transports androgens and estrogens in the blood, binding each steroid molecule as a dimer formed from identical or nearly identical monomers. Polymorphisms in this gene have been associated with polycystic ovary syndrome and type 2 diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
SHC1	chr1	154962298	154974395	-	ENSG00000160691.18	protein_coding	SHC|SHCA	1q21.3	SHC adaptor protein 1	This gene encodes three main isoforms that differ in activities and subcellular location. While all three are adapter proteins in signal transduction pathways, the longest (p66Shc) may be involved in regulating life span and the effects of reactive oxygen species. The other two isoforms, p52Shc and p46Shc, link activated receptor tyrosine kinases to the Ras pathway by recruitment of the GRB2/SOS complex. p66Shc is not involved in Ras activation. Unlike the other two isoforms, p46Shc is targeted to the mitochondrial matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
SHCBP1	chr16	46580554	46621626	-	ENSG00000171241.8	protein_coding	PAL	16q11.2	SHC binding and spindle associated 1	Ubiquitous expression in bone marrow (RPKM 5.2), lymph node (RPKM 5.2) and 25 other tissues
SHCBP1L	chr1	182899865	182953525	-	ENSG00000157060.15	protein_coding	C1orf14|GE36	1q25.3	SHC binding and spindle associated 1 like	This gene encodes a Src homology 2 domain-binding protein 1-like protein. The encoded protein interacts with heat shock 70 kDa protein 2 and may be involved in maintaining spindle integrity during meiosis. This gene is located in region of chromoso0me 1 encompassing a prostate cancer susceptibility locus. [provided by RefSeq, Sep 2016]
SHD	chr19	4278601	4290724	+	ENSG00000105251.10	protein_coding	-	19p13.3	Src homology 2 domain containing transforming protein D	-
SHE	chr1	154469772	154502113	-	ENSG00000169291.9	protein_coding	-	1q21.3	Src homology 2 domain containing E	-
SHF	chr15	45167214	45201175	-	ENSG00000138606.19	protein_coding	-	15q21.1	Src homology 2 domain containing F	-
SHFL	chr19	 10086317	10093243	+	ENSG00000130813	protein-coding	C19orf66|IRAV|RyDEN|SFL	19p13.2	shiftless antiviral inhibitor of ribosomal frameshifting	This gene is an interferon stimulated gene (ISG) that inhibits viral replication. The encoded protein binds nucleic acids and inhibits programmed -1 ribosomal frameshifting required for translation by many RNA viruses. Viruses inhibited by the protein include Zika virus, dengue virus and the coronaviruses, SARS-CoV and SARS-CoV2. [provided by RefSeq, Aug 2021]
SHISA4	chr1	201888680	201892306	+	ENSG00000198892.6	protein_coding	C1orf40|TMEM58	1q32.1	shisa family member 4	Broad expression in brain (RPKM 26.3), heart (RPKM 17.4) and 19 other tissues
SHISA5	chr3	48467798	48504826	-	ENSG00000164054.15	protein_coding	SCOTIN	3p21.31	shisa family member 5	This gene encodes a member of the shisa family. The encoded protein is localized to the endoplasmic reticulum, and together with p53 induces apoptosis in a caspase-dependent manner. Alternative splicing results in multiple transcript variants. Related pseudogenes of this gene are found on chromosome X. [provided by RefSeq, Apr 2016]
SHISA7	chr19	55428740	55442863	-	ENSG00000187902.11	protein_coding	CKAMP59	19q13.42	shisa family member 7	Biased expression in brain (RPKM 7.7), testis (RPKM 0.8) and 1 other tissue
SHISA8	chr22	41909554	41914667	-	ENSG00000234965.2	protein_coding	C22orf17|Orf26	22q13.2	shisa family member 8	Ubiquitous expression in adrenal (RPKM 5.8), brain (RPKM 5.6) and 23 other tissues
SHISA9	chr16	12901620	13240413	+	ENSG00000237515.8	protein_coding	CKAMP44	16p13.12	shisa family member 9	Biased expression in brain (RPKM 3.5), prostate (RPKM 1.1) and 3 other tissues
SHISAL2A	chr1	 52632788	52669683	+	ENSG00000182183	protein-coding	FAM159A|PRO7171|WWLS2783	1p32.3	shisa like 2A	Biased expression in lymph node (RPKM 1.5), spleen (RPKM 0.8) and 8 other tissues
SHISAL2B	chr5	 64690503	64718190	+	ENSG00000145642	protein-coding	FAM159B	5q12.3	shisa like 2B	Biased expression in stomach (RPKM 2.5), pancreas (RPKM 0.8) and 3 other tissues
SHKBP1	chr19	40576851	40591399	+	ENSG00000160410.14	protein_coding	PP203|Sb1	19q13.2	SH3KBP1 binding protein 1	Ubiquitous expression in bone marrow (RPKM 24.5), spleen (RPKM 23.9) and 25 other tissues
SHLD1	chr20	 5750193	5864395	+	ENSG00000171984	protein-coding	C20orf196|RINN3	20p12.3	shieldin complex subunit 1	Ubiquitous expression in lymph node (RPKM 1.6), adrenal (RPKM 1.1) and 24 other tissues
SHLD2	chr10	 87094473	87191465	+	ENSG00000122376	protein-coding	FAM35A|FAM35A1|RINN2|bA163M19.1	10q23.2	shieldin complex subunit 2	Ubiquitous expression in kidney (RPKM 20.9), thyroid (RPKM 14.9) and 25 other tissues
SHLD3	chr5	 65625027	65630928	+	ENSG00000253251	protein-coding	CTC-534A2.2|RINN1	5q12.3	shieldin complex subunit 3	-
SHMT1	chr17	18327860	18363563	-	ENSG00000176974.19	protein_coding	CSHMT|SHMT	17p11.2	serine hydroxymethyltransferase 1	This gene encodes the cytosolic form of serine hydroxymethyltransferase, a pyridoxal phosphate-containing enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. This reaction provides one-carbon units for synthesis of methionine, thymidylate, and purines in the cytoplasm. This gene is located within the Smith-Magenis syndrome region on chromosome 17. A pseudogene of this gene is located on the short arm of chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
SHMT2	chr12	57229327	57234935	+	ENSG00000182199.10	protein_coding	GLYA|HEL-S-51e|NEDCASB|SHMT	12q13.3	serine hydroxymethyltransferase 2	This gene encodes the mitochondrial form of a pyridoxal phosphate-dependent enzyme that catalyzes the reversible reaction of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. The encoded product is primarily responsible for glycine synthesis. The activity of the encoded protein has been suggested to be the primary source of intracellular glycine. The gene which encodes the cytosolic form of this enzyme is located on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
SHOC1	chr9	 111686171	111794937	-	ENSG00000165181	protein-coding	C9orf84|MZIP2|ZIP2|ZIP2H	9q31.3	shortage in chiasmata 1	Restricted expression toward testis (RPKM 5.2)
SHOC2	chr10	110919547	111013667	+	ENSG00000108061.11	protein_coding	NSLH1|SIAA0862|SOC2|SUR8	10q25.2	SHOC2 leucine rich repeat scaffold protein	This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]
SHOX2	chr3	158095954	158106503	-	ENSG00000168779.19	protein_coding	OG12|OG12X|SHOT	3q25.32	short stature homeobox 2	This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
SHPRH	chr6	145864245	145964423	-	ENSG00000146414.15	protein_coding	RAD5|bA545I5.2	6q24.3	SNF2 histone linker PHD RING helicase	SHPRH is a ubiquitously expressed protein that contains motifs characteristics of several DNA repair proteins, transcription factors, and helicases. SHPRH is a functional homolog of S. cerevisiae RAD5 (Unk et al., 2006 [PubMed 17108083]).[supplied by OMIM, Mar 2008]
SHROOM1	chr5	132822141	132830898	-	ENSG00000164403.14	protein_coding	APXL2	5q31.1	shroom family member 1	SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008]
SHROOM3	chr4	76435100	76783253	+	ENSG00000138771.14	protein_coding	APXL3|MSTP013|SHRM|ShrmL	4q21.1	shroom family member 3	This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by RefSeq, Jan 2011]
SHROOM4	chrX	50591647	50814302	-	ENSG00000158352.15	protein_coding	MRXSSDS|SHAP|shrm4	Xp11.22	shroom family member 4	This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to the X-linked Stocco dos Santos syndrome characterized by cognitive disabilities. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2017]
SHTN1	chr10	116881482	117126586	-	ENSG00000187164.19	protein_coding	KIAA1598|shootin-1	10q25.3	shootin 1	Ubiquitous expression in brain (RPKM 8.9), thyroid (RPKM 3.4) and 23 other tissues
SIAH1	chr16	48356364	48448402	-	ENSG00000196470.11	protein_coding	BURHAS|SIAH1A	16q12.1	siah E3 ubiquitin protein ligase 1	This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in the development of certain forms of Parkinsons disease, the regulation of the cellular response to hypoxia and induction of apoptosis. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]
SIAH2	chr3	150741127	150763477	-	ENSG00000181788.3	protein_coding	hSiah2	3q25.1	siah E3 ubiquitin protein ligase 2	This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in regulating cellular response to hypoxia. [provided by RefSeq, Jul 2008]
SIAH2-AS1	chr3	150761937	150762538	+	ENSG00000244265.1	antisense	-	3q25.1	SIAH2 antisense RNA 1	-
SIDT1	chr3	113532296	113629578	+	ENSG00000072858.10	protein_coding	SID-1|SID1	3q13.2	SID1 transmembrane family member 1	The protein encoded by this gene belongs to SID1 family of transmembrane dsRNA-gated channels. Family members transport dsRNA into cells and are required for systemic RNA interference. [provided by RefSeq, May 2017]
SIDT2	chr11	117178733	117197445	+	ENSG00000149577.15	protein_coding	CGI-40	11q23.3	SID1 transmembrane family member 2	Ubiquitous expression in stomach (RPKM 22.3), prostate (RPKM 21.9) and 25 other tissues
SIGIRR	chr11	405716	417455	-	ENSG00000185187.12	protein_coding	IL-1R8|TIR8	11p15.5	single Ig and TIR domain containing	Ubiquitous expression in spleen (RPKM 19.3), kidney (RPKM 16.8) and 25 other tissues
SIGLEC11	chr19	49948985	49961172	-	ENSG00000161640.15	protein_coding	-	19q13.33	sialic acid binding Ig like lectin 11	Biased expression in ovary (RPKM 40.7), spleen (RPKM 13.8) and 1 other tissue
SIGLEC14	chr19	51642553	51646801	-	ENSG00000254415.3	protein_coding	-	19q13.41	sialic acid binding Ig like lectin 14	-
SIGLEC15	chr18	45825512	45844080	+	ENSG00000197046.11	protein_coding	CD33L3|HsT1361|SIGLEC-15	18q12.3	sialic acid binding Ig like lectin 15	Biased expression in small intestine (RPKM 1.8), duodenum (RPKM 1.0) and 8 other tissues
SIGLEC16	chr19	49969673	49975814	+	ENSG00000161643.12	transcribed_unprocessed_pseudogene	SIGLECP16|Siglec-P16	19q13.33	sialic acid binding Ig like lectin 16	Biased expression in ovary (RPKM 40.2) and spleen (RPKM 10.4)
SIGLEC18P	chr19	51119987	51122965	+	ENSG00000268581.1	unprocessed_pseudogene	SIGLECP1	19q13.41	sialic acid binding Ig like lectin 18, pseudogene	-
SIGLEC22P	chr19	51211080	51212088	+	ENSG00000268849.5	transcribed_unprocessed_pseudogene	SIGLECP6	19q13.41	sialic acid binding Ig like lectin 22, pseudogene	-
SIGLEC5	chr19	51611927	51645545	-	ENSG00000105501.12	protein_coding	CD170|CD33L2|OB-BP2|OBBP2|SIGLEC-5	19q13.41	sialic acid binding Ig like lectin 5	This gene encodes a member of the sialic acid-binding immunoglobulin-like lectin (Siglec) family. These cell surface lectins are characterized by structural motifs in the immunoglobulin (Ig)-like domains and sialic acid recognition sites in the first Ig V set domain. The encoded protein is a member of the CD33-related subset of Siglecs and inhibits the activation of several cell types including monocytes, macrophages and neutrophils. Binding of group B Streptococcus (GBS) to the encoded protein plays a role in GBS immune evasion. [provided by RefSeq, Feb 2012]
SIGLEC6	chr19	51519525	51531856	-	ENSG00000105492.15	protein_coding	CD327|CD33L|CD33L1|CD33L2|CDW327|OBBP1	19q13.41	sialic acid binding Ig like lectin 6	This gene encodes a member of the SIGLEC (sialic acid binding immunoglobulin-like lectin) family of proteins. The encoded transmembrane receptor binds sialyl-TN glycans and leptin. Placental expression of the encoded protein is upregulated in preeclampsia. [provided by RefSeq, Jul 2016]
SIGLEC7	chr19	51142299	51153526	+	ENSG00000168995.13	protein_coding	AIRM-1|AIRM1|CD328|CDw328|D-siglec|QA79|SIGLEC-7|SIGLEC19P|SIGLECP2|p75|p75/AIRM1	19q13.41	sialic acid binding Ig like lectin 7	Predicted to enable sialic acid binding activity. Predicted to be involved in cell adhesion. Predicted to be integral component of plasma membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
SIGLEC9	chr19	51124908	51136651	+	ENSG00000129450.8	protein_coding	CD329|CDw329|FOAP-9|OBBP-LIKE|siglec-9	19q13.41	sialic acid binding Ig like lectin 9	Predicted to enable monosaccharide binding activity and sialic acid binding activity. Predicted to be involved in cell adhesion. Predicted to act upstream of or within negative regulation of inflammatory response and negative regulation of phagocytosis, engulfment. Predicted to be located in external side of plasma membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
SIGLECL1	chr19	51246348	51269330	+	ENSG00000179213.13	protein_coding	C19orf75|SIGLEC23P|SIGLECP7	19q13.41	SIGLEC family like 1	Predicted to enable sialic acid binding activity. Predicted to be involved in cell adhesion. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
SIGMAR1	chr9	34634722	34637809	-	ENSG00000147955.16	protein_coding	ALS16|DSMA2|OPRS1|SIG-1R|SR-BP|SR-BP1|SRBP|hSigmaR1|sigma1R	9p13.3	sigma non-opioid intracellular receptor 1	This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines. The receptor is believed to play an important role in the cellular functions of various tissues associated with the endocrine, immune, and nervous systems. As indicated by its previous name, opioid receptor sigma 1 (OPRS1), the product of this gene was erroneously thought to function as an opioid receptor; it is now thought to be a non-opioid receptor. Mutations in this gene has been associated with juvenile amyotrophic lateral sclerosis 16. Alternative splicing of this gene results in transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2013]
SIK1	chr21	43414515	43427128	-	ENSG00000142178.7	protein_coding	DEE30|MSK|SIK|SIK-1|SIK1B|SNF1LK	21q22.3	salt inducible kinase 1	This gene encodes a serine/threonine protein kinase that contains a ubiquitin-associated (UBA) domain. The encoded protein is a member of the adenosine monophosphate-activated kinase (AMPK) subfamily of kinases that play a role in conserved signal transduction pathways. A mutation in this gene is associated with early infantile epileptic encephalopathy 30. [provided by RefSeq, Nov 2016]
SIK2	chr11	111602391	111730853	+	ENSG00000170145.4	protein_coding	LOH11CR1I|QIK|SIK-2|SNF1LK2	11q23.1	salt inducible kinase 2	Ubiquitous expression in fat (RPKM 24.2), brain (RPKM 10.3) and 25 other tissues
SIK3	chr11	116843402	117098437	-	ENSG00000160584.15	protein_coding	L19|QSK|SEMDK|SIK-3	11q23.3	SIK family kinase 3	Broad expression in testis (RPKM 19.2), brain (RPKM 13.9) and 25 other tissues
SIK3-IT1	chr11	-	-	-	-	ncRNA	-	11q23.3	SIK3 intronic transcript 1	-
SIKE1	chr1	114769479	114780685	-	ENSG00000052723.11	protein_coding	SIKE	1p13.2	suppressor of IKBKE 1	SIKE interacts with IKK-epsilon (IKBKE; MIM 605048) and TBK1 (MIM 604834) and acts as a suppressor of TLR3 (MIM 603029) and virus-triggered interferon activation pathways (Huang et al., 2005 [PubMed 16281057]).[supplied by OMIM, Mar 2008]
SIL1	chr5	138946720	139293557	-	ENSG00000120725.12	protein_coding	BAP|MSS|ULG5	5q31.2	SIL1 nucleotide exchange factor	This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
SIM1	chr6	100385015	100464929	-	ENSG00000112246.9	protein_coding	bHLHe14	6q16.3	SIM bHLH transcription factor 1	SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs.  SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested.  Since the sim gene plays an important role in Drosophila development and has peak levels of expression during the period of neurogenesis,it was proposed that the human SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull characteristics), abnormalities of brain development, and/or cognitive disability of Down syndrome. [provided by RefSeq, Jul 2008]
SIM2	chr21	36699133	36749917	+	ENSG00000159263.15	protein_coding	HMC13F06|HMC29C01|SIM|bHLHe15	21q22.13	SIM bHLH transcription factor 2	This gene represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING-IBR-RING-type E3 ubiquitin ligases, including the parkin RBR E3 ubiquitin protein ligase. This gene maps within the so-called Down syndrome chromosomal region, and is thus thought to contribute to some specific Down syndrome phenotypes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
SIMC1	chr5	176238367	176345991	+	ENSG00000170085.17	protein_coding	C5orf25|OOMA1|PLEIAD	5q35.2	SUMO interacting motifs containing 1	Broad expression in testis (RPKM 8.3), ovary (RPKM 7.8) and 23 other tissues
SIN3A	chr15	75369379	75455842	-	ENSG00000169375.15	protein_coding	WITKOS	15q24.2	SIN3 transcription regulator family member A	The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repression by the Mad-Max complex. [provided by RefSeq, Jul 2008]
SIN3B	chr19	16829400	16880353	+	ENSG00000127511.9	protein_coding	-	19p13.11	SIN3 transcription regulator family member B	-
SIPA1	chr11	65638097	65650930	+	ENSG00000213445.9	protein_coding	SPA1	11q13.1	signal-induced proliferation-associated 1	The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterized to date. [provided by RefSeq, Jul 2008]
SIPA1L1	chr14	71320449	71741229	+	ENSG00000197555.9	protein_coding	E6TP1|SPAR1	14q24.2	signal induced proliferation associated 1 like 1	Ubiquitous expression in brain (RPKM 7.9), spleen (RPKM 7.4) and 25 other tissues
SIPA1L2	chr1	232397965	232561558	-	ENSG00000116991.10	protein_coding	SPAL2|SPAR2	1q42.2	signal induced proliferation associated 1 like 2	This gene encodes a member of the signal-induced proliferation-associated 1 like family. Members of this family contain a GTPase activating domain, a PDZ domain and a C-terminal coiled-coil domain with a leucine zipper. A similar protein in rat acts as a GTPases for the small GTPase Rap. [provided by RefSeq, Sep 2015]
SIPA1L3	chr19	37907228	38208372	+	ENSG00000105738.10	protein_coding	CTRCT45|SPAL3|SPAR3	19q13.13-q13.2	signal induced proliferation associated 1 like 3	This gene belongs to the signal induced proliferation associated 1 family of genes, which encode GTPase-activating proteins specific for the GTP-binding protein Rap1. Rap1 has been implicated in regulation of cell adhesion, cell polarity, and organization of the cytoskeleton. Like other members of the family, the protein encoded by this gene contains RapGAP and PDZ domains. In addition, this protein contains a C-terminal leucine zipper domain. This gene is proposed to function in epithelial cell morphogenesis and establishment or maintenance of polarity. Consistently, expression of the protein in cell culture showed localization to cell-cell borders in apical regions, and downregulation of the gene in 3D Caco2 cell culture resulted in abnormal cell polarity and morphogenesis. Allelic variants of this gene have been associated with congenital cataracts in humans. [provided by RefSeq, Feb 2016]
SIRPA	chr20	1894167	1940592	+	ENSG00000198053.11	protein_coding	BIT|CD172A|MFR|MYD-1|P84|PTPNS1|SHPS1|SIRP	20p13	signal regulatory protein alpha	The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein can be phosphorylated by tyrosine kinases. The phospho-tyrosine residues of this PTP have been shown to recruit SH2 domain containing tyrosine phosphatases (PTP), and serve as substrates of PTPs. This protein was found to participate in signal transduction mediated by various growth factor receptors. CD47 has been demonstrated to be a ligand for this receptor protein. This gene and its product share very high similarity with several other members of the SIRP family. These related genes are located in close proximity to each other on chromosome 20p13. Multiple alternatively spliced transcript variants have been determined for this gene. [provided by RefSeq, Jul 2008]
SIRPB1	chr20	1563521	1620061	-	ENSG00000101307.15	protein_coding	CD172b|SIRP-BETA-1	20p13	signal regulatory protein beta 1	The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein was found to interact with TYROBP/DAP12, a protein bearing immunoreceptor tyrosine-based activation motifs. This protein was also reported to participate in the recruitment of tyrosine kinase SYK. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
SIRPB2	chr20	1470741	1491587	-	ENSG00000196209.12	protein_coding	PTPN1L|PTPNS1L3|dJ776F14.2	20p13	signal regulatory protein beta 2	Broad expression in appendix (RPKM 5.0), placenta (RPKM 2.4) and 14 other tissues
SIRPD	chr20	1534251	1558843	-	ENSG00000125900.12	protein_coding	PTPNS1L2|dJ576H24.4	20p13	signal regulatory protein delta	Predicted to be located in extracellular region. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
SIRPG	chr20	1629152	1657779	-	ENSG00000089012.14	protein_coding	CD172g|SIRP-B2|SIRPB2|SIRPgamma|bA77C3.1	20p13	signal regulatory protein gamma	The protein encoded by this gene is a member of the signal-regulatory protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
SIRPG-AS1	chr20	1633508	1648472	+	ENSG00000237914.5	antisense	-	20p13	SIRPG antisense RNA 1	-
SIRT1	chr10	67884669	67918390	+	ENSG00000096717.11	protein_coding	SIR2|SIR2L1|SIR2alpha	10q21.3	sirtuin 1	This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
SIRT2	chr19	38878555	38899862	-	ENSG00000068903.19	protein_coding	SIR2|SIR2L|SIR2L2	19q13.2	sirtuin 2	This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Several transcript variants are resulted from alternative splicing of this gene. [provided by RefSeq, Jul 2010]
SIRT3	chr11	215458	236931	-	ENSG00000142082.14	protein_coding	SIR2L3	11p15.5	sirtuin 3	SIRT3 encodes a member of the sirtuin family of class III histone deacetylases, homologs to the yeast Sir2 protein. The encoded protein is found exclusively in mitochondria, where it can eliminate reactive oxygen species, inhibit apoptosis, and prevent the formation of cancer cells. SIRT3 has far-reaching effects on nuclear gene expression, cancer, cardiovascular disease, neuroprotection, aging, and metabolic control. [provided by RefSeq, May 2019]
SIRT4	chr12	120302316	120313249	+	ENSG00000089163.4	protein_coding	SIR2L4	12q24.23-q24.31	sirtuin 4	This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. [provided by RefSeq, Jul 2008]
SIRT5	chr6	13574529	13615158	+	ENSG00000124523.15	protein_coding	SIR2L5	6p23	sirtuin 5	This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class III of the sirtuin family. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2010]
SIRT6	chr19	4174109	4182604	-	ENSG00000077463.14	protein_coding	SIR2L6	19p13.3	sirtuin 6	This gene encodes a member of the sirtuin family of NAD-dependent enzymes that are implicated in cellular stress resistance, genomic stability, aging and energy homeostasis. The encoded protein is localized to the nucleus, exhibits ADP-ribosyl transferase and histone deacetylase activities, and plays a role in DNA repair, maintenance of telomeric chromatin, inflammation, lipid and glucose metabolism. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
SIRT7	chr17	81911939	81921323	-	ENSG00000187531.13	protein_coding	SIR2L7	17q25.3	sirtuin 7	This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. [provided by RefSeq, Jul 2008]
SIT1	chr9	35649295	35650950	-	ENSG00000137078.8	protein_coding	SIT|SIT-R	9p13.3	signaling threshold regulating transmembrane adaptor 1	Biased expression in lymph node (RPKM 22.9), appendix (RPKM 10.2) and 8 other tissues
SIVA1	chr14	104753100	104768494	+	ENSG00000184990.12	protein_coding	CD27BP|SIVA|Siva-1|Siva-2	14q32.33	SIVA1 apoptosis inducing factor	This gene encodes an E3 ubiquitin ligase that regulates cell cycle progression, cell proliferation and apoptosis. The N-terminus of this protein binds to the cytoplasmic tail of the CD27 antigen, a member of the tumor necrosis factor receptor (TNFR) superfamily. In response to UV radiation-induced DNA damage, this protein has been shown to mediate the ubiquitination of proliferating cell nuclear antigen (PCNA), an important step in translesion DNA synthesis. [provided by RefSeq, Sep 2018]
SIX1	chr14	60643415	60658259	-	ENSG00000126778.8	protein_coding	BOS3|DFNA23|TIP39	14q23.1	SIX homeobox 1	The protein encoded by this gene is a homeobox protein that is similar to the Drosophila sine oculis gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008]
SIX2	chr2	45005161	45009430	-	ENSG00000170577.7	protein_coding	-	2p21	SIX homeobox 2	Biased expression in salivary gland (RPKM 4.1), prostate (RPKM 2.7) and 4 other tissues
SIX3	chr2	44941898	44946077	+	ENSG00000138083.4	protein_coding	HPE2	2p21	SIX homeobox 3	This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009]
SIX4	chr14	60709528	60724348	-	ENSG00000100625.8	protein_coding	AREC3	14q23.1	SIX homeobox 4	This gene encodes a member of the homeobox family, subfamily SIX. The drosophila homolog is a nuclear homeoprotein required for eye development. Studies in mouse show that this gene product functions as a transcription factor, and may have a role in the differentiation or maturation of neuronal cells. [provided by RefSeq, May 2010]
SIX5	chr19	45764785	45769226	-	ENSG00000177045.7	protein_coding	BOR2|DMAHP	19q13.32	SIX homeobox 5	The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009]
SIX6	chr14	60508951	60512850	+	ENSG00000184302.6	protein_coding	MCOPCT2|ODRMD|OPTX2|Six9	14q23.1	SIX homeobox 6	The protein encoded by this gene is a homeobox protein that is similar to the Drosophila sine oculis gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008]
SKA1	chr18	50374995	50394173	+	ENSG00000154839.9	protein_coding	C18orf24	18q21.1	spindle and kinetochore associated complex subunit 1	Biased expression in bone marrow (RPKM 4.0), testis (RPKM 3.1) and 12 other tissues
SKA2	chr17	59109951	59155269	-	ENSG00000182628.12	protein_coding	FAM33A	17q22	spindle and kinetochore associated complex subunit 2	Ubiquitous expression in brain (RPKM 9.5), thyroid (RPKM 8.8) and 25 other tissues
SKAP1	chr17	48133440	48430275	-	ENSG00000141293.15	protein_coding	HEL-S-81p|SCAP1|SKAP55	17q21.32	src kinase associated phosphoprotein 1	This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N-terminal region followed by a PH domain and C-terminal SH3 domain. Along with the adhesion and degranulation-promoting adaptor protein, the encoded protein plays a critical role in inside-out signaling by coupling T-cell antigen receptor stimulation to the activation of integrins. [provided by RefSeq, Jul 2008]
SKAP1-AS2	chr17	 48294347	48307829	+	ENSG00000235300	ncRNA	BTR|THRA1/BTR	17q21.32	SKAP1 antisense RNA 2	-
SKAP2	chr7	26667062	26995239	-	ENSG00000005020.12	protein_coding	PRAP|RA70|SAPS|SCAP2|SKAP-HOM|SKAP55R	7p15.2	src kinase associated phosphoprotein 2	The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
SKI	chr1	2228695	2310119	+	ENSG00000157933.9	protein_coding	SGS|SKV	1p36.33-p36.32	SKI proto-oncogene	This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009]
SKIDA1	chr10	21513478	21526368	-	ENSG00000180592.16	protein_coding	C10orf140|DLN-1	10p12.31	SKI/DACH domain containing 1	Low expression observed in reference dataset
SKIL	chr3	170357678	170396835	+	ENSG00000136603.13	protein_coding	SNO|SnoA|SnoI|SnoN	3q26.2	SKI like proto-oncogene	The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
SKIV2L	chr6	31959080	31969755	+	ENSG00000204351.11	protein_coding	170A|DDX13|HLP|SKI2|SKI2W|SKIV2|SKIV2L1|THES2	6p21.33	Ski2 like RNA helicase	DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]
SKOR1	chr15	67819704	67834561	+	ENSG00000188779.10	protein_coding	CORL1|FUSSEL15|LBXCOR1	15q23	SKI family transcriptional corepressor 1	Low expression observed in reference dataset
SKP1	chr5	134148935	134177038	-	ENSG00000113558.18	protein_coding	EMC19|OCP-II|OCP2|SKP1A|TCEB1L|p19A	5q31.1	S-phase kinase associated protein 1	This gene encodes a component of SCF complexes, which are composed of this protein, cullin 1, a ring-box protein, and one member of the F-box family of proteins. This protein binds directly to the F-box motif found in F-box proteins. SCF complexes are involved in the regulated ubiquitination of specific protein substrates, which targets them for degradation by the proteosome. Specific F-box proteins recognize different target protein(s), and many specific SCF substrates have been identified including regulators of cell cycle progression and development. Studies have also characterized the protein as an RNA polymerase II elongation factor. Alternative splicing of this gene results in two transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jul 2008]
SKP1P1	chr7	66423405	66423893	-	ENSG00000231234.2	transcribed_processed_pseudogene	EMC19|OCP2|TCEB1L|TCEB1P|TCEB1P1	7q11.21	S-phase kinase associated protein 1 pseudogene 1	-
SKP2	chr5	36151989	36184319	+	ENSG00000145604.15	protein_coding	FBL1|FBXL1|FLB1|p45	5p13.2	S-phase kinase associated protein 2	This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class; in addition to an F-box, this protein contains 10 tandem leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2011]
SLA	chr8	133036724	133103054	-	ENSG00000155926.13	protein_coding	SLA1|SLAP	8q24.22	Src like adaptor	Broad expression in appendix (RPKM 40.5), lymph node (RPKM 30.4) and 15 other tissues
SLA2	chr20	36612318	36646216	-	ENSG00000101082.13	protein_coding	C20orf156|MARS|SLAP-2|SLAP2	20q11.23	Src like adaptor 2	This gene encodes a member of the SLAP family of adapter proteins. The encoded protein may play an important receptor-proximal role in downregulating T and B cell-mediated responses and inhibits antigen receptor-induced calcium mobilization. This protein interacts with Cas-Br-M (murine) ecotropic retroviral transforming sequence c. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
SLAIN1	chr13	77697854	77764242	+	ENSG00000139737.21	protein_coding	C13orf32	13q22.3	SLAIN motif family member 1	Biased expression in brain (RPKM 39.3), testis (RPKM 10.8) and 7 other tissues
SLAIN2	chr4	48341322	48426212	+	ENSG00000109171.14	protein_coding	KIAA1458	4p11	SLAIN motif family member 2	Ubiquitous expression in testis (RPKM 22.9), esophagus (RPKM 14.0) and 25 other tissues
SLAMF1	chr1	160608100	160647295	-	ENSG00000117090.14	protein_coding	CD150|CDw150|SLAM	1q23.3	signaling lymphocytic activation molecule family member 1	Biased expression in lymph node (RPKM 8.7), appendix (RPKM 6.0) and 11 other tissues
SLAMF6	chr1	160485030	160523262	-	ENSG00000162739.13	protein_coding	CD352|KALI|KALIb|Ly108|NTB-A|NTBA|SF2000	1q23.2-q23.3	SLAM family member 6	The protein encoded by this gene is a type I transmembrane protein, belonging to the CD2 subfamily of the immunoglobulin superfamily. This encoded protein is expressed on Natural killer (NK), T, and B lymphocytes. It undergoes tyrosine phosphorylation and associates with the Src homology 2 domain-containing protein (SH2D1A) as well as with SH2 domain-containing phosphatases (SHPs). It functions as a coreceptor in the process of NK cell activation. It can also mediate inhibitory signals in NK cells from X-linked lymphoproliferative patients. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]
SLAMF6P1	chr1	162445549	162446566	+	ENSG00000227243.3	unprocessed_pseudogene	-	1q23.3	SLAM family member 6 pseudogene 1	-
SLAMF7	chr1	160739057	160754821	+	ENSG00000026751.16	protein_coding	19A|CD319|CRACC|CS1	1q23.3	SLAM family member 7	Biased expression in lymph node (RPKM 22.3), appendix (RPKM 19.3) and 13 other tissues
SLBP	chr4	1692800	1712555	-	ENSG00000163950.12	protein_coding	HBP	4p16.3	stem-loop binding protein	This gene encodes a protein that binds to the stem-loop structure in replication-dependent histone mRNAs. Histone mRNAs do not contain introns or polyadenylation signals, and are processed by endonucleolytic cleavage. The stem-loop structure is essential for efficient processing but this structure also controls the transport, translation and stability of histone mRNAs. Expression of the protein is regulated during the cell cycle, increasing more than 10-fold during the latter part of G1. [provided by RefSeq, Jul 2008]
SLC10A3	chrX	154487306	154490690	-	ENSG00000126903.15	protein_coding	DXS253E|P3	Xq28	solute carrier family 10 member 3	This gene maps to a GC-rich region of the X chromosome and was identified by its proximity to a CpG island. It is thought to be a housekeeping gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2008]
SLC10A4	chr4	48483343	48489196	+	ENSG00000145248.6	protein_coding	P4	4p11	solute carrier family 10 member 4	Biased expression in adrenal (RPKM 2.6), brain (RPKM 1.4) and 8 other tissues
SLC10A5	chr8	81693607	81696174	-	ENSG00000253598.1	protein_coding	P5	8q21.13	solute carrier family 10 member 5	Predicted to enable bile acid:sodium symporter activity. Predicted to be involved in bile acid and bile salt transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
SLC10A6	chr4	86823468	86849263	-	ENSG00000145283.7	protein_coding	SOAT	4q21.3	solute carrier family 10 member 6	Biased expression in skin (RPKM 6.2), esophagus (RPKM 5.0) and 7 other tissues
SLC11A1	chr2	218382029	218396894	+	ENSG00000018280.16	protein_coding	LSH|NRAMP|NRAMP1	2q35	solute carrier family 11 member 1	This gene is a member of the solute carrier family 11 (proton-coupled divalent metal ion transporters) family and encodes a multi-pass membrane protein. The protein functions as a divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Mutations in this gene have been associated with susceptibility to infectious diseases such as tuberculosis and leprosy, and inflammatory diseases such as rheumatoid arthritis and Crohn disease. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
SLC11A2	chr12	50979401	51028566	-	ENSG00000110911.14	protein_coding	AHMIO1|DCT1|DMT1|NRAMP2	12q13.12	solute carrier family 11 member 2	This gene encodes a member of the solute carrier family 11 protein family. The product of this gene transports divalent metals and is involved in iron absorption. Mutations in this gene are associated with hypochromic microcytic anemia with iron overload. A related solute carrier family 11 protein gene is located on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010]
SLC12A1	chr15	48191664	48304078	+	ENSG00000074803.17	protein_coding	BSC1|NKCC2	15q21.1	solute carrier family 12 member 1	This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henles loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010]
SLC12A2	chr5	128083766	128189688	+	ENSG00000064651.13	protein_coding	BSC|BSC2|KILQS|NKCC1|PPP1R141	5q23.3	solute carrier family 12 member 2	The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
SLC12A2-DT	chr5	 127940440	128083175	-	ENSG00000245937	ncRNA	LINC01184	5q23.3	SLC12A2 divergent transcript	-
SLC12A3	chr16	56865207	56915850	+	ENSG00000070915.9	protein_coding	NCC|NCCT|TSC	16q13	solute carrier family 12 member 3	This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartters syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
SLC12A4	chr16	67943474	67969601	-	ENSG00000124067.16	protein_coding	CTC-479C5.17|KCC1|hKCC1	16q22.1	solute carrier family 12 member 4	This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
SLC12A5	chr20	46021690	46060152	+	ENSG00000124140.13	protein_coding	DEE34|EIEE34|EIG14|KCC2|hKCC2	20q13.12	solute carrier family 12 member 5	K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]
SLC12A6	chr15	34229996	34338060	-	ENSG00000140199.11	protein_coding	ACCPN|KCC3|KCC3A|KCC3B	15q14	solute carrier family 12 member 6	This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008]
SLC12A7	chr5	1050376	1112035	-	ENSG00000113504.20	protein_coding	KCC4	5p15.33	solute carrier family 12 member 7	Ubiquitous expression in testis (RPKM 14.3), kidney (RPKM 13.8) and 25 other tissues
SLC12A8	chr3	125082636	125212864	-	ENSG00000221955.10	protein_coding	CCC9	3q21.2	solute carrier family 12 member 8	This gene is thought to be a candidate for psoriasis susceptibility. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2010]
SLC12A9	chr7	100826820	100867009	+	ENSG00000146828.17	protein_coding	CCC6|CIP1|WO3.3|hCCC6	7q22.1	solute carrier family 12 member 9	Ubiquitous expression in placenta (RPKM 13.3), spleen (RPKM 11.5) and 25 other tissues
SLC13A2	chr17	28473293	28497781	+	ENSG00000007216.14	protein_coding	NADC1|NaCT|NaDC-1|SDCT1	17q11.2	solute carrier family 13 member 2	The protein encoded by this gene is a sodium-coupled citrate transporter that is regulated by the chaperone activity of cyclophilin b. The encoded protein may play a role in the formation of kidney stones. [provided by RefSeq, Oct 2016]
SLC13A3	chr20	46557823	46684467	-	ENSG00000158296.13	protein_coding	ARLIAK|NADC3|SDCT2	20q13.12	solute carrier family 13 member 3	Mammalian sodium-dicarboxylate cotransporters transport succinate and other Krebs cycle intermediates. They fall into 2 categories based on their substrate affinity: low affinity and high affinity. Both the low- and high-affinity transporters play an important role in the handling of citrate by the kidneys. The protein encoded by this gene represents the high-affinity form. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, although the full-length nature of some of them have not been characterized yet. [provided by RefSeq, Jul 2008]
SLC13A4	chr7	135681237	135729258	-	ENSG00000164707.15	protein_coding	NAS2|SUT-1|SUT1	7q33	solute carrier family 13 member 4	Biased expression in placenta (RPKM 28.4) and testis (RPKM 3.0)
SLC13A5	chr17	6684713	6713567	-	ENSG00000141485.16	protein_coding	DEE25|EIEE25|INDY|NACT|mIndy	17p13.1	solute carrier family 13 member 5	This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
SLC14A1	chr18	45724127	45752520	+	ENSG00000141469.16	protein_coding	HUT11|HUT11A|HsT1341|JK|Jk(b)|RACH1|RACH2|UT-B1|UT1|UTE	18q12.3	solute carrier family 14 member 1 (Kidd blood group)	The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]
SLC14A2	chr18	45212995	45683686	+	ENSG00000132874.14	protein_coding	HUT2|UT-A2|UT2|UTA|UTR|hUT-A6	18q12.3	solute carrier family 14 member 2	The protein encoded by this gene belongs to the urea transporter family. In mammalian cells, urea is the chief end product of nitrogen catabolism, and plays an important role in the urinary concentration mechanism. This protein is expressed in the inner medulla of the kidney, and mediates rapid transepithelial urea transport across the inner medullary collecting duct. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]
SLC14A2-AS1	chr18	45423764	45483218	-	ENSG00000267097.1	antisense	-	18q12.3	SLC14A2 antisense RNA 1	-
SLC15A1	chr13	98683801	98752654	-	ENSG00000088386.16	protein_coding	HPECT1|HPEPT1|PEPT1	13q32.2-q32.3	solute carrier family 15 member 1	This gene encodes an intestinal hydrogen peptide cotransporter that is a member of the solute carrier family 15. The encoded protein is localized to the brush border membrane of the intestinal epithelium and mediates the uptake of di- and tripeptides from the lumen into the enterocytes. This protein plays an important role in the uptake and digestion of dietary proteins. This protein also facilitates the absorption of numerous peptidomimetic drugs. [provided by RefSeq, Apr 2010]
SLC15A2	chr3	121894089	121944102	+	ENSG00000163406.10	protein_coding	PEPT2	3q13.33	solute carrier family 15 member 2	The mammalian kidney expresses a proton-coupled peptide transporter that is responsible for the absorption of small peptides, as well as beta-lactam antibiotics and other peptide-like drugs, from the tubular filtrate. This transporter, SLC15A2, belongs to the same gene family as SLC15A1 (MIM 600544), the proton-coupled peptide transporter found in the small intestine (Liu et al, 1995 [PubMed 7756356]).[supplied by OMIM, Feb 2011]
SLC15A3	chr11	60937084	60952530	-	ENSG00000110446.10	protein_coding	OCTP|PHT2|PTR3	11q12.2	solute carrier family 15 member 3	Broad expression in spleen (RPKM 20.2), lung (RPKM 17.9) and 23 other tissues
SLC15A4	chr12	128793191	128823983	-	ENSG00000139370.11	protein_coding	FP12591|PHT1|PTR4	12q24.33	solute carrier family 15 member 4	Ubiquitous expression in bone marrow (RPKM 17.6), testis (RPKM 10.0) and 25 other tissues
SLC15A5	chr12	16188485	16277685	-	ENSG00000188991.3	protein_coding	-	12p12.3	solute carrier family 15 member 5	-
SLC16A1	chr1	112911847	112957013	-	ENSG00000155380.11	protein_coding	HHF7|MCT|MCT1|MCT1D	1p13.2	solute carrier family 16 member 1	The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009]
SLC16A1-AS1	chr1	112956415	113047055	+	ENSG00000226419.7	antisense	-	1p13.2	SLC16A1 antisense RNA 1	-
SLC16A10	chr6	111087503	111231194	+	ENSG00000112394.16	protein_coding	MCT10|PRO0813|TAT1	6q21	solute carrier family 16 member 10	SLC16A10 is a member of a family of plasma membrane amino acid transporters that mediate the Na(+)-independent transport of aromatic amino acids across the plasma membrane.[supplied by OMIM, Apr 2004]
SLC16A11	chr17	7041630	7043923	-	ENSG00000174326.11	protein_coding	MCT 11|MCT11	17p13.1	solute carrier family 16 member 11	Broad expression in kidney (RPKM 1.1), lung (RPKM 1.1) and 22 other tissues
SLC16A13	chr17	7036075	7040121	+	ENSG00000174327.6	protein_coding	MCT13	17p13.1	solute carrier family 16 member 13	Broad expression in liver (RPKM 11.1), kidney (RPKM 6.1) and 17 other tissues
SLC16A14	chr2	230034974	230068999	-	ENSG00000163053.10	protein_coding	MCT14	2q36.3	solute carrier family 16 member 14	Ubiquitous expression in skin (RPKM 4.6), brain (RPKM 4.6) and 24 other tissues
SLC16A3	chr17	82228397	82261129	+	ENSG00000141526.16	protein_coding	MCT 3|MCT 4|MCT-3|MCT-4|MCT3|MCT4	17q25.3	solute carrier family 16 member 3	Lactic acid and pyruvate transport across plasma membranes is catalyzed by members of the proton-linked monocarboxylate transporter (MCT) family, which has been designated solute carrier family-16. Each MCT appears to have slightly different substrate and inhibitor specificities and transport kinetics, which are related to the metabolic requirements of the tissues in which it is found. The MCTs, which include MCT1 (SLC16A1; MIM 600682) and MCT2 (SLC16A7; MIM 603654), are characterized by 12 predicted transmembrane domains (Price et al., 1998 [PubMed 9425115]).[supplied by OMIM, Mar 2008]
SLC16A4	chr1	110362848	110391082	-	ENSG00000168679.17	protein_coding	MCT4|MCT5	1p13.3	solute carrier family 16 member 4	Biased expression in kidney (RPKM 44.3), placenta (RPKM 12.3) and 10 other tissues
SLC16A5	chr17	75087727	75106162	+	ENSG00000170190.15	protein_coding	MCT5|MCT6	17q25.1	solute carrier family 16 member 5	This gene encodes a member of the monocarboxylate transporter family and the major facilitator superfamily. The encoded protein is localized to the cell membrane and acts as a proton-linked transporter of bumetanide. Transport by the encoded protein is inhibited by four loop diuretics, nateglinide, thiazides, probenecid, and glibenclamide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
SLC16A6	chr17	68267026	68291267	-	ENSG00000108932.11	protein_coding	MCT6|MCT7	17q24.2	solute carrier family 16 member 6	Broad expression in esophagus (RPKM 4.8), appendix (RPKM 3.2) and 18 other tissues
SLC16A7	chr12	59596067	59789855	+	ENSG00000118596.11	protein_coding	MCT2	12q14.1	solute carrier family 16 member 7	This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
SLC16A8	chr22	38078134	38084093	-	ENSG00000100156.10	protein_coding	MCT3|REMP	22q13.1	solute carrier family 16 member 8	SLC16A8 is a member of a family of proton-coupled monocarboxylate transporters that mediate lactate transport across cell membranes (Yoon et al., 1999 [PubMed 10493836]).[supplied by OMIM, Apr 2010]
SLC16A9	chr10	59650761	59736002	-	ENSG00000165449.11	protein_coding	C10orf36|MCT9	10q21.2	solute carrier family 16 member 9	Biased expression in adrenal (RPKM 82.1), kidney (RPKM 62.2) and 9 other tissues
SLC17A1	chr6	25782897	25832059	-	ENSG00000124568.10	protein_coding	NAPI-1|NPT-1|NPT1	6p22.2	solute carrier family 17 member 1	Restricted expression toward kidney (RPKM 52.9)
SLC17A2	chr6	25912754	25930726	-	ENSG00000112337.10	protein_coding	NPT3	6p22.2	solute carrier family 17 member 2	Restricted expression toward liver (RPKM 16.0)
SLC17A3	chr6	25833066	25882286	-	ENSG00000124564.17	protein_coding	GOUT4|NPT4|UAQTL4	6p22.2	solute carrier family 17 member 3	The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum. [provided by RefSeq, Aug 2012]
SLC17A4	chr6	25754699	25781191	+	ENSG00000146039.10	protein_coding	KAIA2138	6p22.2	solute carrier family 17 member 4	Phosphate homeostasis is maintained by regulating intake, intestinal absorption, bone deposition and resorption, and renal excretion of phosphate. The central molecule in the control of phosphate excretion from the kidney is the sodium/phosphate cotransporter NPT1 (SLC17A1; MIM 182308), which is located in the renal proximal tubule. NPT1 uses the transmembrane electrochemical potential gradient of sodium to transport phosphate across the cell membrane. SLC17A4 is a similar sodium/phosphate cotransporter in the intestinal mucosa that plays an important role in the absorption of phosphate from the intestine (summary by Shibui et al., 1999 [PubMed 10319585]).[supplied by OMIM, Feb 2011]
SLC17A5	chr6	73593379	73654155	-	ENSG00000119899.12	protein_coding	AST|ISSD|NSD|SD|SIALIN|SIASD|SLD	6q13	solute carrier family 17 member 5	This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]
SLC17A6	chr11	22338097	22379503	+	ENSG00000091664.7	protein_coding	DNPI|VGLUT2	11p14.3	solute carrier family 17 member 6	Predicted to enable L-glutamate transmembrane transporter activity and neurotransmitter transmembrane transporter activity. Involved in neurotransmitter loading into synaptic vesicle. Predicted to be located in synaptic vesicle. Predicted to be active in excitatory synapse. Predicted to be integral component of synaptic vesicle membrane. [provided by Alliance of Genome Resources, Apr 2022]
SLC17A7	chr19	49429401	49442360	-	ENSG00000104888.9	protein_coding	BNPI|VGLUT1	19q13.33	solute carrier family 17 member 7	The protein encoded by this gene is a vesicle-bound, sodium-dependent phosphate transporter that is specifically expressed in the neuron-rich regions of the brain. It is preferentially associated with the membranes of synaptic vesicles and functions in glutamate transport. The protein shares 82% identity with the differentiation-associated Na-dependent inorganic phosphate cotransporter and they appear to form a distinct class within the Na+/Pi cotransporter family. [provided by RefSeq, Jul 2008]
SLC17A9	chr20	62952647	62969585	+	ENSG00000101194.17	protein_coding	C20orf59|POROK8|VNUT	20q13.33	solute carrier family 17 member 9	This gene encodes a member of a family of transmembrane proteins that are involved in the transport of small molecules. The encoded protein participates in the vesicular uptake, storage, and secretion of adenoside triphosphate (ATP) and other nucleotides. A mutation in this gene was found in individuals with autosomal dominant disseminated superficial actinic porokeratosis-8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
SLC18A1	chr8	20144855	20183206	-	ENSG00000036565.14	protein_coding	CGAT|VAT1|VMAT1	8p21.3	solute carrier family 18 member A1	The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001).[supplied by OMIM, Mar 2008]
SLC18A2	chr10	117241093	117279430	+	ENSG00000165646.11	protein_coding	PKDYS2|SVAT|SVMT|VAT2|VMAT2	10q25.3	solute carrier family 18 member A2	This gene encodes an transmembrane protein that functions as an ATP-dependent transporter of monoamines, such as dopamine, norepinephrine, serotonin, and histamine. This protein transports amine neurotransmitters into synaptic vesicles. Polymorphisms in this gene may be associated with schizophrenia, bipolar disorder, and other neurological/psychiatric ailments. [provided by RefSeq, Jun 2018]
SLC18B1	chr6	132769370	132798553	-	ENSG00000146409.10	protein_coding	C6orf192|dJ55C23.6	6q23.2	solute carrier family 18 member B1	This gene encodes a protein, which has high sequence similarity to rat, xenopus and zebrafish proteins. The protein function is unknown. [provided by RefSeq, Jul 2008]
SLC19A1	chr21	45493572	45544411	-	ENSG00000173638.18	protein_coding	CHMD|FOLT|IFC-1|IFC1|MEGAF|REFC|RFC|RFC1|RFT-1|hRFC|hSLC19A1	21q22.3	solute carrier family 19 member 1	The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
SLC19A2	chr1	169463909	169486003	-	ENSG00000117479.12	protein_coding	TC1|THMD1|THT1|THTR1|TRMA	1q24.2	solute carrier family 19 member 2	This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
SLC19A3	chr2	227685210	227718012	-	ENSG00000135917.13	protein_coding	BBGD|THMD2|THTR2|thTr-2	2q36.3	solute carrier family 19 member 3	This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild cognitive disability, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernickes-like encephalopathy.[provided by RefSeq, Jan 2010]
SLC1A1	chr9	4490444	4587469	+	ENSG00000106688.11	protein_coding	DCBXA|EAAC1|EAAT3|SCZD18	9p24.2	solute carrier family 1 member 1	This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010]
SLC1A2	chr11	35251206	35420063	-	ENSG00000110436.11	protein_coding	DEE41|EAAT2|EIEE41|GLT-1|HBGT	11p13	solute carrier family 1 member 2	This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Improper regulation of this gene is thought to be associated with several neurological disorders. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2017]
SLC1A3	chr5	36606355	36688334	+	ENSG00000079215.13	protein_coding	EA6|EAAT1|GLAST|GLAST1	5p13.2	solute carrier family 1 member 3	This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014]
SLC1A4	chr2	64988477	65023865	+	ENSG00000115902.10	protein_coding	ASCT1|SATT|SPATCCM	2p14	solute carrier family 1 member 4	The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017]
SLC1A5	chr19	46774883	46788594	-	ENSG00000105281.12	protein_coding	AAAT|ASCT2|ATBO|M7V1|M7VS1|R16|RDRC	19q13.32	solute carrier family 1 member 5	The SLC1A5 gene encodes a sodium-dependent neutral amino acid transporter that can act as a receptor for RD114/type D retrovirus (Larriba et al., 2001 [PubMed 11781704]).[supplied by OMIM, Jan 2011]
SLC1A7	chr1	53087179	53142632	-	ENSG00000162383.11	protein_coding	AAAT|EAAT5	1p32.3	solute carrier family 1 member 7	Broad expression in gall bladder (RPKM 2.6), small intestine (RPKM 2.2) and 17 other tissues
SLC20A1	chr2	112645857	112663827	+	ENSG00000144136.10	protein_coding	GLVR1|Glvr-1|PIT1|PiT-1	2q14.1	solute carrier family 20 member 1	The protein encoded by this gene is a sodium-phosphate symporter that absorbs phosphate from interstitial fluid for use in cellular functions such as metabolism, signal transduction, and nucleic acid and lipid synthesis. The encoded protein is also a retroviral receptor, causing human cells to be susceptible to infection by gibbon ape leukemia virus, simian sarcoma-associated virus, feline leukemia virus subgroup B, and 10A1 murine leukemia virus.[provided by RefSeq, Mar 2011]
SLC20A2	chr8	42416475	42541926	-	ENSG00000168575.9	protein_coding	GLVR-2|GLVR2|IBGC1|IBGC2|IBGC3|MLVAR|PIT-2|PIT2|RAM1|Ram-1	8p11.21	solute carrier family 20 member 2	This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
SLC22A1	chr6	160121789	160158718	+	ENSG00000175003.12	protein_coding	HOCT1|OCT1|oct1_cds	6q25.3	solute carrier family 22 member 1	Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008]
SLC22A10	chr11	63137867	63369718	+	ENSG00000184999.11	protein_coding	OAT5|hOAT5	11q12.3	solute carrier family 22 member 10	Restricted expression toward liver (RPKM 17.4)
SLC22A11	chr11	64555626	64572875	+	ENSG00000168065.15	protein_coding	OAT4|hOAT4	11q13.1	solute carrier family 22 member 11	The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and is found mainly in the kidney and in the placenta, where it may act to prevent potentially harmful organic anions from reaching the fetus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
SLC22A12	chr11	64590641	64602353	+	ENSG00000197891.11	protein_coding	OAT4L|RST|URAT1	11q13.1	solute carrier family 22 member 12	The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
SLC22A13	chr3	38265812	38278315	+	ENSG00000172940.11	protein_coding	OAT10|OCTL1|OCTL3|ORCTL-3|ORCTL3	3p22.2	solute carrier family 22 member 13	This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 4. The encoded protein is a transmembrane protein involved in the transport of small molecules. This protein can function to mediate urate uptake and is a high affinity nicotinate exchanger in the kidneys and the intestine. [provided by RefSeq, Sep 2008]
SLC22A14	chr3	38282294	38318575	+	ENSG00000144671.10	protein_coding	OCTL2|OCTL4|ORCTL4	3p22.2	solute carrier family 22 member 14	This gene encodes a member of the organic-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 3. The encoded protein is a transmembrane protein which is thought to transport small molecules and since this protein is conserved among several species, it is suggested to have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
SLC22A15	chr1	115976498	116070054	+	ENSG00000163393.12	protein_coding	FLIPT1|PRO34686	1p13.1	solute carrier family 22 member 15	Organic ion transporters, such as SLC22A15, transport various medically and physiologically important compounds, including pharmaceuticals, toxins, hormones, neurotransmitters, and cellular metabolites. These transporters are also referred to as amphiphilic solute facilitators (ASFs).[supplied by OMIM, Apr 2004]
SLC22A16	chr6	110424687	110476641	-	ENSG00000004809.13	protein_coding	CT2|FLIPT2|HEL-S-18|OAT6|OCT6|OKB1|dJ261K5.1	6q21|6q21-q22.1	solute carrier family 22 member 16	This gene encodes a member of the organic zwitterion transporter protein family which transports carnitine. The encoded protein has also been shown to transport anticancer drugs like bleomycin (PMID: 20037140) successful treatment has been correlated with the level of activity of this transporter in tumor cells. [provided by RefSeq, Dec 2011]
SLC22A17	chr14	23346306	23352912	-	ENSG00000092096.16	protein_coding	24p3R|BOCT|BOIT|NGALR|NGALR2|NGALR3|hBOIT	14q11.2	solute carrier family 22 member 17	Biased expression in brain (RPKM 47.7), prostate (RPKM 11.1) and 10 other tissues
SLC22A18	chr11	2899721	2925246	+	ENSG00000110628.13	protein_coding	BWR1A|BWSCR1A|HET|IMPT1|ITM|ORCTL2|SLC22A1L|TSSC5|p45-BWR1A	11p15.4	solute carrier family 22 member 18	This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is imprinted, with preferential expression from the maternal allele. Mutations in this gene have been found in Wilms tumor and lung cancer. This protein may act as a transporter of organic cations, and have a role in the transport of chloroquine and quinidine-related compounds in kidney. Several alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2015]
SLC22A18AS	chr11	2887780	2903740	-	ENSG00000254827.5	protein_coding	BWR1B|BWSCR1B|ORCTL2S|SLC22A1LS|p27-BWR1B	11p15.4	SLC22A18 antisense RNA	Broad expression in colon (RPKM 2.2), duodenum (RPKM 1.3) and 24 other tissues
SLC22A2	chr6	160171061	160277638	-	ENSG00000112499.12	protein_coding	OCT2	6q25.3	solute carrier family 22 member 2	Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. [provided by RefSeq, Jul 2008]
SLC22A20P	chr11	 65213840	65242757	+	ENSG00000197847	pseudogene	Oat6|SLC22A20	11q13.1	solute carrier family 22 member 20, pseudogene	Low expression observed in reference dataset
SLC22A3	chr6	160348268	160452581	+	ENSG00000146477.5	protein_coding	EMT|EMTH|OCT3	6q25.3	solute carrier family 22 member 3	Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. [provided by RefSeq, Jul 2008]
SLC22A31	chr16	89195761	89201664	-	ENSG00000259803.6	protein_coding	-	16q24.3	solute carrier family 22 member 31	-
SLC22A4	chr5	132294443	132344206	+	ENSG00000197208.5	protein_coding	DFNB60|OCTN1	5q31.1	solute carrier family 22 member 4	Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008]
SLC22A5	chr5	132369752	132395614	+	ENSG00000197375.12	protein_coding	CDSP|OCTN2	5q31.1	solute carrier family 22 member 5	Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
SLC22A6	chr11	62936385	62984983	-	ENSG00000197901.11	protein_coding	HOAT1|OAT1|PAHT|ROAT1	11q12.3	solute carrier family 22 member 6	The protein encoded by this gene is involved in the sodium-dependent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and may be localized to the basolateral membrane. Four transcript variants encoding four different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
SLC22A7	chr6	43295694	43305538	+	ENSG00000137204.14	protein_coding	NLT|OAT2|hOAT11	6p21.1	solute carrier family 22 member 7	The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
SLC22A9	chr11	63369789	63410294	+	ENSG00000149742.9	protein_coding	HOAT4|OAT4|OAT7|UST3H|ust3	11q12.3	solute carrier family 22 member 9	Enables anion:anion antiporter activity; short-chain fatty acid transmembrane transporter activity; and sodium-independent organic anion transmembrane transporter activity. Involved in hormone transport; short-chain fatty acid import; and sodium-independent organic anion transport. Located in basolateral plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
SLC23A1	chr5	139367196	139384553	-	ENSG00000170482.16	protein_coding	SLC23A2|SVCT1|YSPL3	5q31.2	solute carrier family 23 member 1	The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two transporters. The encoded protein is active in bulk vitamin C transport involving epithelial surfaces. Previously, this gene had an official symbol of SLC23A2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
SLC23A2	chr20	4852356	5010293	-	ENSG00000089057.14	protein_coding	NBTL1|SLC23A1|SVCT2|YSPL2	20p13	solute carrier family 23 member 2	The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two required transporters and the encoded protein accounts for tissue-specific uptake of vitamin C. Previously, this gene had an official symbol of SLC23A1. [provided by RefSeq, Jul 2008]
SLC23A3	chr2	219161465	219170095	-	ENSG00000213901.10	protein_coding	E2BP3|SVCT3|Yspl1	2q35	solute carrier family 23 member 3	Biased expression in kidney (RPKM 21.8), small intestine (RPKM 10.2) and 3 other tissues
SLC24A1	chr15	65611366	65660995	+	ENSG00000074621.13	protein_coding	CSNB1D|HsT17412|NCKX|NCKX1|RODX	15q22.31	solute carrier family 24 member 1	This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
SLC24A2	chr9	19507452	19786928	-	ENSG00000155886.11	protein_coding	NCKX2	9p22.1-p21.3	solute carrier family 24 member 2	This gene encodes a member of the calcium/cation antiporter superfamily of transport proteins. The encoded protein belongs to the SLC24 branch of exchangers, which can mediate the extrusion of one Ca2+ ion and one K+ ion in exchange for four Na+ ions. This family member is a retinal cone/brain exchanger that can mediate a light-induced decrease in free Ca2+ concentration. This protein may also play a neuroprotective role during ischemic brain injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
SLC24A3	chr20	19212646	19722937	+	ENSG00000185052.11	protein_coding	NCKX3	20p11.23	solute carrier family 24 member 3	Plasma membrane sodium/calcium exchangers are an important component of intracellular calcium homeostasis and electrical conduction. Potassium-dependent sodium/calcium exchangers such as SLC24A3 are believed to transport 1 intracellular calcium and 1 potassium ion in exchange for 4 extracellular sodium ions (Kraev et al., 2001 [PubMed 11294880]).[supplied by OMIM, Mar 2008]
SLC24A4	chr14	92322581	92501483	+	ENSG00000140090.17	protein_coding	AI2A5|NCKX4|SHEP6|SLC24A2	14q32.12	solute carrier family 24 member 4	This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
SLC24A5	chr15	48120972	48142672	+	ENSG00000188467.10	protein_coding	JSX|NCKX5|OCA6|SHEP4	15q21.1	solute carrier family 24 member 5	This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]
SLC25A1	chr22	19175575	19178830	-	ENSG00000100075.9	protein_coding	CMS23|CTP|D2L2AD|SEA|SLC20A3	22q11.21	solute carrier family 25 member 1	This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
SLC25A10	chr17	81712236	81721016	+	ENSG00000183048.11	protein_coding	DIC|MTDPS19	17q25.3	solute carrier family 25 member 10	This gene encodes a member of a family of proteins that translocate small metabolites across the mitochondrial membrane. The encoded protein exchanges dicarboxylates, such as malate and succinate, for phosphate, sulfate, and other small molecules, thereby providing substrates for metabolic processes including the Krebs cycle and fatty acid synthesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
SLC25A11	chr17	4937130	4940251	-	ENSG00000108528.13	protein_coding	OGC|PGL6|SLC20A4	17p13.2	solute carrier family 25 member 11	The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., 1992 [PubMed 1457818]).[supplied by OMIM, Jan 2011]
SLC25A12	chr2	171784370	171999859	-	ENSG00000115840.13	protein_coding	AGC1|ARALAR|DEE39|EIEE39	2q31.1	solute carrier family 25 member 12	This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
SLC25A13	chr7	96120220	96322147	-	ENSG00000004864.13	protein_coding	ARALAR2|CITRIN|CTLN2|NICCD	7q21.3	solute carrier family 25 member 13	This gene is a member of the mitochondrial carrier family. The encoded protein contains four EF-hand Ca(2+) binding motifs in the N-terminal domain, and localizes to mitochondria. The protein catalyzes the exchange of aspartate for glutamate and a proton across the inner mitochondrial membrane, and is stimulated by calcium on the external side of the inner mitochondrial membrane. Mutations in this gene result in citrullinemia, type II. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
SLC25A14P1	chr4	83477524	83478424	+	ENSG00000213608.5	processed_pseudogene	-	4q21.23	solute carrier family 25 member 14 pseudogene 1	-
SLC25A15	chr13	40789412	40810111	+	ENSG00000102743.14	protein_coding	D13S327|HHH|LNC-HC|ORC1|ORNT1	13q14.11	solute carrier family 25 member 15	This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome.[provided by RefSeq, May 2009]
SLC25A16	chr10	68477999	68527474	-	ENSG00000122912.14	protein_coding	D10S105E|GDA|GDC|HGT.1|ML7|hML7	10q21.3	solute carrier family 25 member 16	This gene encodes a protein that contains three tandemly repeated mitochondrial carrier protein domains. The encoded protein is localized in the inner membrane and facilitates the rapid transport and exchange of molecules between the cytosol and the mitochondrial matrix space. This gene has a possible role in Graves disease. [provided by RefSeq, Jul 2008]
SLC25A17	chr22	40769630	40819399	-	ENSG00000100372.14	protein_coding	PMP34	22q13.2	solute carrier family 25 member 17	This gene encodes a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers. It is expressed in the liver, and is likely involved in transport. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
SLC25A19	chr17	75272981	75289510	-	ENSG00000125454.11	protein_coding	DNC|MCPHA|MUP1|THMD3|THMD4|TPC	17q25.1	solute carrier family 25 member 19	This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
SLC25A1P1	chr11	85934737	85935663	+	ENSG00000254479.1	processed_pseudogene	-	11q14.2	solute carrier family 25 member 1 pseudogene 1	-
SLC25A1P5	chr19	27805423	27806205	-	ENSG00000267323.1	processed_pseudogene	-	19q11	solute carrier family 25 member 1 pseudogene 5	-
SLC25A2	chr5	141302629	141304045	-	ENSG00000120329.6	protein_coding	ORC2|ORNT2	5q31.3	solute carrier family 25 member 2	This intronless gene encodes a protein that localizes to the mitochondrial inner membrane and likely functions as a transporter of small molecules such as ornithine. This gene is located between the protocadherin beta and gamma gene clusters on chromosome 5. [provided by RefSeq, Dec 2014]
SLC25A20	chr3	48856931	48898993	-	ENSG00000178537.9	protein_coding	CAC|CACT	3p21.31	solute carrier family 25 member 20	This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008]
SLC25A21	chr14	36678431	37172866	-	ENSG00000183032.11	protein_coding	MTDPS18|ODC|ODC1	14q13.3	solute carrier family 25 member 21	SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-oxoadipate, a common intermediate in the catabolism of lysine, tryptophan, and hydroxylysine in mammals. Within mitochondria, 2-oxoadipate is converted into acetyl-CoA.[supplied by OMIM, Apr 2004]
SLC25A21-AS1	chr14	37171888	37173811	+	ENSG00000258708.1	antisense	-	14q13.3	SLC25A21 antisense RNA 1	-
SLC25A22	chr11	790475	798333	-	ENSG00000177542.10	protein_coding	DEE3|EIEE3|GC-1|GC1|NET44	11p15.5	solute carrier family 25 member 22	This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]
SLC25A23	chr19	6436079	6465203	-	ENSG00000125648.14	protein_coding	APC2|MCSC2|SCAMC3|SCaMC-3	19p13.3	solute carrier family 25 member 23	Ubiquitous expression in brain (RPKM 40.2), thyroid (RPKM 28.7) and 23 other tissues
SLC25A24	chr1	108134036	108200849	-	ENSG00000085491.15	protein_coding	APC1|SCAMC-1|SCAMC1	1p13.3	solute carrier family 25 member 24	This gene encodes a carrier protein that transports ATP-Mg exchanging it for phosphate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
SLC25A25	chr9	128068201	128109245	+	ENSG00000148339.12	protein_coding	MCSC|PCSCL|SCAMC-2|SCAMC2	9q34.11	solute carrier family 25 member 25	The protein encoded by this gene belongs to the family of calcium-binding mitochondrial carriers, with a characteristic mitochondrial carrier domain at the C-terminus. These proteins are found in the inner membranes of mitochondria, and function as transport proteins. They shuttle metabolites, nucleotides and cofactors through the mitochondrial membrane and thereby connect and/or regulate cytoplasm and matrix functions. This protein may function as an ATP-Mg/Pi carrier that mediates the transport of Mg-ATP in exchange for phosphate, and likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria. Alternatively spliced transcript variants encoding different isoforms with a common C-terminus but variable N-termini have been described for this gene. [provided by RefSeq, Jul 2012]
SLC25A26	chr3	66133610	66388116	+	ENSG00000144741.17	protein_coding	COXPD28|SAMC	3p14.1	solute carrier family 25 member 26	This gene is a member of the mitochondrial carrier family which includes nuclear-encoded transporters localized on the inner mitochondrial membranes. Members of the family transport important small molecules across the mitochondrial inner membrane. This protein is involved in the transport of S-adenosylmethionine (SAM) into the mitochondria. Mutations in this gene are associated with combined oxidative phosphorylation deficiency 28. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2017]
SLC25A27	chr6	46652915	46678193	+	ENSG00000153291.15	protein_coding	UCP4	6p12.3	solute carrier family 25 member 27	Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. Transcripts of this gene are only detected in brain tissue and are specifically modulated by various environmental conditions. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
SLC25A28	chr10	99610522	99620609	-	ENSG00000155287.10	protein_coding	MFRN2|MRS3/4|MRS4L|NPD016	10q24.2	solute carrier family 25 member 28	Ubiquitous expression in bone marrow (RPKM 11.6), testis (RPKM 11.1) and 25 other tissues
SLC25A29	chr14	100291111	100306547	-	ENSG00000197119.12	protein_coding	C14orf69|CACL|ORNT3	14q32.2	solute carrier family 25 member 29	This gene encodes a nuclear-encoded mitochondrial protein that is a member of the large family of solute carrier family 25 (SLC25) mitochondrial transporters. The members of this superfamily are involved in numerous metabolic pathways and cell functions. This gene product was previously reported to be a mitochondrial carnitine-acylcarnitine-like (CACL) translocase (PMID:128829710) or an ornithine transporter (designated ORNT3, PMID:19287344), however, a recent study characterized the main role of this protein as a mitochondrial transporter of basic amino acids, with a preference for arginine and lysine (PMID:24652292). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
SLC25A3	chr12	98593591	98606379	+	ENSG00000075415.12	protein_coding	OK/SW-cl.48|PHC|PTP	12q23.1	solute carrier family 25 member 3	The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008]
SLC25A33	chr1	9539482	9585179	+	ENSG00000171612.6	protein_coding	BMSC-MCP|PNC1	1p36.22	solute carrier family 25 member 33	SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
SLC25A34	chr1	15736405	15741396	+	ENSG00000162461.7	protein_coding	-	1p36.21	solute carrier family 25 member 34	Broad expression in duodenum (RPKM 4.5), small intestine (RPKM 4.4) and 22 other tissues
SLC25A35	chr17	8287763	8295343	-	ENSG00000125434.10	protein_coding	-	17p13.1	solute carrier family 25 member 35	Broad expression in testis (RPKM 9.0), endometrium (RPKM 4.9) and 24 other tissues
SLC25A36	chr3	140941830	140979933	+	ENSG00000114120.11	protein_coding	PNC2	3q23	solute carrier family 25 member 36	Ubiquitous expression in bone marrow (RPKM 19.4), endometrium (RPKM 15.5) and 24 other tissues
SLC25A37	chr8	23528805	23575463	+	ENSG00000147454.13	protein_coding	HT015|MFRN|MFRN1|MSC|MSCP|PRO1278|PRO1584|PRO2217	8p21.2	solute carrier family 25 member 37	SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).[supplied by OMIM, Jan 2011]
SLC25A38	chr3	39383348	39397351	+	ENSG00000144659.10	protein_coding	SIDBA2	3p22.1	solute carrier family 25 member 38	This gene is a member of the mitochondrial carrier family. The encoded protein is required during erythropoiesis and is important for the biosynthesis of heme. Mutations in this gene are the cause of autosomal congenital sideroblastic anemia (anemia, sideroblastic, 2, pyridoxine-refractory). A related pseudogene is found on chromosome 1. [provided by RefSeq, Aug 2017]
SLC25A39	chr17	44319625	44324870	-	ENSG00000013306.15	protein_coding	CGI-69|CGI69	17q21.31	solute carrier family 25 member 39	This gene encodes a member of the SLC25 transporter or mitochondrial carrier family of proteins. Members of this family are encoded by the nuclear genome while their protein products are usually embedded in the inner mitochondrial membrane and exhibit wide-ranging substrate specificity. Although the encoded protein is currently considered an orphan transporter, this protein is related to other carriers known to transport amino acids. This protein may play a role in iron homeostasis. [provided by RefSeq, Mar 2016]
SLC25A41	chr19	6426037	6433779	-	ENSG00000181240.13	protein_coding	APC4|SCaMC-3L	19p13.3	solute carrier family 25 member 41	SLC25A41 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).[supplied by OMIM, Mar 2008]
SLC25A42	chr19	19063999	19112888	+	ENSG00000181035.13	protein_coding	MECREN	19p13.11	solute carrier family 25 member 42	This gene encodes a solute carrier family 25 protein. Solute carrier family 25 proteins are localized to mitochondria and play critical roles in the transport of molecules across the inner mitochondrial membrane. The encoded protein is a mitochondrial transporter for coenzyme A (CoA) and adenosine 3,5-diphosphate. [provided by RefSeq, Feb 2012]
SLC25A44	chr1	156193932	156212796	+	ENSG00000160785.13	protein_coding	-	1q22	solute carrier family 25 member 44	Ubiquitous expression in brain (RPKM 13.3), kidney (RPKM 10.2) and 25 other tissues
SLC25A45	chr11	65375192	65383701	-	ENSG00000162241.12	protein_coding	-	11q13.1	solute carrier family 25 member 45	Ubiquitous expression in spleen (RPKM 5.2), lymph node (RPKM 4.1) and 25 other tissues
SLC25A46	chr5	110738136	110765161	+	ENSG00000164209.16	protein_coding	HMSN6B|PCH1E	5q22.1	solute carrier family 25 member 46	This gene encodes a mitochondrial solute carrier protein family member. It functions in promoting mitochondrial fission, and prevents the formation of hyperfilamentous mitochondria. Mutation of this gene results in neuropathy and optic atrophy. [provided by RefSeq, Aug 2016]
SLC25A47	chr14	100323337	100330378	+	ENSG00000140107.10	protein_coding	C14orf68|HDCMP|HDMCP|HMFN1655	14q32.2	solute carrier family 25 member 47	This gene encodes a member of a large family of mitochondrial transporters. The nuclear-encoded carrier protein is embedded in the inner mitochondrial membrane. This member of the family is thought to be an uncoupling protein that uncouples mitochondrial respiration from ATP synthesis by dissipating the transmembrane proton gradient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]
SLC25A48	chr5	135834649	135888637	+	ENSG00000145832.12	protein_coding	-	5q31.1	solute carrier family 25 member 48	-
SLC25A5P1	chr22	42001069	42001966	-	ENSG00000215347.3	processed_pseudogene	ANTP3|bK250D10.4	22q13.2	solute carrier family 25 member 5 pseudogene 1	-
SLC26A1	chr4	979073	993440	-	ENSG00000145217.13	protein_coding	CAON|EDM4|SAT-1|SAT1	4p16.3	solute carrier family 26 member 1	This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, but have markedly different tissue expression patterns. This gene is primarily expressed in the liver, pancreas, and brain. Three splice variants that encode different isoforms have been identified. [provided by RefSeq, Jul 2008]
SLC26A10	chr12	57619527	57626151	+	ENSG00000135502.17	protein_coding	-	12q13.3	solute carrier family 26 member 10	-
SLC26A11	chr17	80219699	80253500	+	ENSG00000181045.14	protein_coding	-	17q25.3	solute carrier family 26 member 11	Ubiquitous expression in adrenal (RPKM 8.3), spleen (RPKM 6.4) and 25 other tissues
SLC26A2	chr5	149960737	149993455	+	ENSG00000155850.7	protein_coding	D5S1708|DTD|DTDST|EDM4|MST153|MSTP157	5q32	solute carrier family 26 member 2	The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. It apparently is critical in cartilage for sulfation of proteoglycans and matrix organization. [provided by RefSeq, Jul 2008]
SLC26A3	chr7	107765467	107803225	-	ENSG00000091138.12	protein_coding	CLD|DRA	7q22.3-q31.1	solute carrier family 26 member 3	The protein encoded by this gene is a transmembrane glycoprotein that transports chloride ions across the cell membrane in exchange for bicarbonate ions. It is localized to the mucosa of the lower intestinal tract, particularly to the apical membrane of columnar epithelium and some goblet cells. The protein is essential for intestinal chloride absorption, and mutations in this gene have been associated with congenital chloride diarrhea. [provided by RefSeq, Oct 2008]
SLC26A4	chr7	107660635	107717809	+	ENSG00000091137.11	protein_coding	DFNB4|EVA|PDS|TDH2B	7q22.3	solute carrier family 26 member 4	Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3 of the SLC26A3 gene. The encoded protein has homology to sulfate transporters. [provided by RefSeq, Jul 2008]
SLC26A5	chr7	103352730	103446177	-	ENSG00000170615.14	protein_coding	DFNB61|PRES	7q22.1	solute carrier family 26 member 5	This gene encodes a member of the SLC26A/SulP transporter family. The protein functions as a molecular motor in motile outer hair cells (OHCs) of the cochlea, inducing changes in cell length that act to amplify sound levels. The transmembrane protein is an incomplete anion transporter, and does not allow anions to cross the cell membrane but instead undergoes a conformational change in response to changes in intracellular Cl- levels that results in a change in cell length. The protein functions at microsecond rates, which is several orders of magnitude faster than conventional molecular motor proteins. Mutations in this gene are potential candidates for causing neurosensory deafness. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]
SLC26A6	chr3	48625723	48635493	-	ENSG00000225697.12	protein_coding	-	3p21.31	solute carrier family 26 member 6	Ubiquitous expression in colon (RPKM 11.7), bone marrow (RPKM 8.2) and 25 other tissues
SLC26A7	chr8	91209494	91398152	+	ENSG00000147606.8	protein_coding	SUT2	8q21.3	solute carrier family 26 member 7	This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Aug 2013]
SLC26A8	chr6	35943514	36024868	-	ENSG00000112053.13	protein_coding	SPGF3|TAT1	6p21.31	solute carrier family 26 member 8	This gene encodes a member of the SLC26 gene family of anion transporters. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. The expression of this gene appears to be restricted to spermatocytes. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2010]
SLC26A9	chr1	205913048	205943460	-	ENSG00000174502.18	protein_coding	-	1q32.1	solute carrier family 26 member 9	Biased expression in salivary gland (RPKM 19.0), stomach (RPKM 12.3) and 5 other tissues
SLC27A1	chr19	17468769	17506168	+	ENSG00000130304.16	protein_coding	ACSVL5|FATP|FATP-1|FATP1	19p13.11	solute carrier family 27 member 1	Ubiquitous expression in ovary (RPKM 10.2), fat (RPKM 9.1) and 24 other tissues
SLC27A2	chr15	50182196	50236395	+	ENSG00000140284.10	protein_coding	ACSVL1|FACVL1|FATP2|HsT17226|VLACS|VLCS|hFACVL1	15q21.2	solute carrier family 27 member 2	The protein encoded by this gene is an isozyme of long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme activates long-chain, branched-chain and very-long-chain fatty acids containing 22 or more carbons to their CoA derivatives. It is expressed primarily in liver and kidney, and is present in both endoplasmic reticulum and peroxisomes, but not in mitochondria. Its decreased peroxisomal enzyme activity is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
SLC27A3	chr1	153774354	153780157	+	ENSG00000143554.13	protein_coding	ACSVL3|FATP3|VLCS-3	1q21.3	solute carrier family 27 member 3	This gene belongs to a family of integral membrane proteins and encodes a protein that is involved in lipid metabolism. The increased expression of this gene in human neural stem cells derived from induced pluripotent stem cells suggests that it plays an important role in early brain development. Naturally occurring mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
SLC27A4	chr9	128340646	128361470	+	ENSG00000167114.12	protein_coding	ACSVL4|FATP4|IPS	9q34.11	solute carrier family 27 member 4	This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of mature enterocytes in the small intestine, and appears to be the principal fatty acid transporter in enterocytes. Clinical studies suggest this gene as a candidate gene for the insulin resistance syndrome. Mutations in this gene have been associated with ichthyosis prematurity syndrome. [provided by RefSeq, Apr 2010]
SLC27A5	chr19	58479512	58512413	-	ENSG00000083807.9	protein_coding	ACSB|ACSVL6|BACS|BAL|FACVL3|FATP-5|FATP5|VLACSR|VLCS-H2|VLCSH2	19q13.43	solute carrier family 27 member 5	The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. [provided by RefSeq, Jul 2008]
SLC27A6	chr5	128538013	129033642	+	ENSG00000113396.12	protein_coding	ACSVL2|FACVL2|FATP6|VLCS-H1	5q23.3	solute carrier family 27 member 6	This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
SLC28A1	chr15	84884654	84945796	+	ENSG00000156222.11	protein_coding	CNT1|HCNT1|URCTU	15q25.3	solute carrier family 28 member 1	Biased expression in kidney (RPKM 9.5), small intestine (RPKM 9.4) and 2 other tissues
SLC28A2	chr15	45252230	45277845	+	ENSG00000137860.11	protein_coding	CNT2|HCNT2|HsT17153|SPNT1	15q21.1	solute carrier family 28 member 2	Biased expression in small intestine (RPKM 43.4), duodenum (RPKM 31.3) and 4 other tissues
SLC28A3	chr9	84275457	84340683	-	ENSG00000197506.7	protein_coding	CNT3	9q21.32-q21.33	solute carrier family 28 member 3	Nucleoside transporters, such as SLC28A3, regulate multiple cellular processes, including neurotransmission, vascular tone, adenosine concentration in the vicinity of cell surface receptors, and transport and metabolism of nucleoside drugs. SLC28A3 shows broad specificity for pyrimidine and purine nucleosides (Ritzel et al., 2001 [PubMed 11032837]).[supplied by OMIM, Mar 2008]
SLC29A1	chr6	44219505	44234151	+	ENSG00000112759.16	protein_coding	ENT1	6p21.1	solute carrier family 29 member 1 (Augustine blood group)	This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by nitrobenzylthioinosine (NBMPR). Nucleoside transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and are also necessary for the uptake of cytotoxic nucleosides used for cancer and viral chemotherapies. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
SLC29A2	chr11	66362521	66372214	-	ENSG00000174669.11	protein_coding	DER12|ENT2|HNP36	11q13.2	solute carrier family 29 member 2	The uptake of nucleosides by transporters, such as SLC29A2, is essential for nucleotide synthesis by salvage pathways in cells that lack de novo biosynthetic pathways. Nucleoside transport also plays a key role in the regulation of many physiologic processes through its effect on adenosine concentration at the cell surface (Griffiths et al., 1997 [PubMed 9396714]).[supplied by OMIM, Nov 2008]
SLC29A3	chr10	71319258	71363385	+	ENSG00000198246.7	protein_coding	ENT3|HCLAP|HJCD|PHID	10q22.1	solute carrier family 29 member 3	This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]
SLC29A4	chr7	5274369	5306870	+	ENSG00000164638.10	protein_coding	ENT4|PMAT	7p22.1	solute carrier family 29 member 4	This gene encodes a member of the SLC29A/ENT transporter protein family. The encoded membrane protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and duration of monoamine neural signaling. It has been shown to transport several compounds, including serotonin, dopamine, and the neurotoxin 1-methyl-4-phenylpyridinium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
SLC2A1	chr1	42925375	42959173	-	ENSG00000117394.20	protein_coding	CSE|DYT17|DYT18|DYT9|EIG12|GLUT|GLUT-1|GLUT1|GLUT1DS|HTLVR|PED|SDCHCN	1p34.2	solute carrier family 2 member 1	This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]
SLC2A1-DT	chr1	 42959049	42983358	+	ENSG00000227533	ncRNA	SLC2A1-AS1	1p34.2	SLC2A1 divergent transcript	-
SLC2A10	chr20	46709487	46736347	+	ENSG00000197496.5	protein_coding	ATORS|ATS|GLUT10	20q13.12	solute carrier family 2 member 10	This gene encodes a member of the class III facilitative glucose transporter family. The encoded protein plays a role in regulation of glucose homeostasis. Mutations in this gene have been associated with arterial tortuosity syndrome.[provided by RefSeq, Dec 2009]
SLC2A11	chr22	23856703	23886309	+	ENSG00000133460.19	protein_coding	GLUT10|GLUT11	22q11.23	solute carrier family 2 member 11	This gene belongs to a family of proteins that mediate the transport of sugars across the cell membrane. The encoded protein transports glucose and fructose. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
SLC2A12	chr6	133988697	134052636	-	ENSG00000146411.5	protein_coding	GLUT12|GLUT8	6q23.2	solute carrier family 2 member 12	SLC2A12 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Rogers et al., 2002). This family of transporters show conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008]
SLC2A13	chr12	39755021	40106089	-	ENSG00000151229.12	protein_coding	HMIT	12q12	solute carrier family 2 member 13	Broad expression in brain (RPKM 11.8), kidney (RPKM 3.4) and 21 other tissues
SLC2A2	chr3	170996348	171026750	-	ENSG00000163581.13	protein_coding	GLUT2	3q26.2	solute carrier family 2 member 2	This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
SLC2A3	chr12	7919230	7936275	-	ENSG00000059804.15	protein_coding	GLUT3	12p13.31	solute carrier family 2 member 3	Biased expression in bone marrow (RPKM 183.0), placenta (RPKM 54.5) and 11 other tissues
SLC2A3P4	chr8	86503591	86505061	+	ENSG00000254088.1	processed_pseudogene	-	8q21.3	solute carrier family 2 member 3 pseudogene 4	-
SLC2A4	chr17	7281667	7288257	+	ENSG00000181856.14	protein_coding	GLUT4	17p13.1	solute carrier family 2 member 4	This gene is a member of the solute carrier family 2 (facilitated glucose transporter) family and encodes a protein that functions as an insulin-regulated facilitative glucose transporter. In the absence of insulin, this integral membrane protein is sequestered within the cells of muscle and adipose tissue. Within minutes of insulin stimulation, the protein moves to the cell surface and begins to transport glucose across the cell membrane. Mutations in this gene have been associated with noninsulin-dependent diabetes mellitus (NIDDM). [provided by RefSeq, Jul 2008]
SLC2A4RG	chr20	63739861	63743505	+	ENSG00000125520.13	protein_coding	GEF|HDBP-1|HDBP1|Si-1-2|Si-1-2-19	20q13.33	SLC2A4 regulator	The protein encoded by this gene is a nuclear transcription factor involved in the activation of the solute carrier family 2 member 4 gene. The encoded protein interacts with another transcription factor, myocyte enhancer factor 2, to activate transcription of this gene. [provided by RefSeq, Jul 2008]
SLC2A5	chr1	9035107	9088478	-	ENSG00000142583.17	protein_coding	GLUT-5|GLUT5	1p36.23	solute carrier family 2 member 5	The protein encoded by this gene is a fructose transporter responsible for fructose uptake by the small intestine. The encoded protein also is necessary for the increase in blood pressure due to high dietary fructose consumption. [provided by RefSeq, Jun 2016]
SLC2A6	chr9	133471095	133479137	-	ENSG00000160326.13	protein_coding	GLUT6|GLUT9|HSA011372	9q34.2	solute carrier family 2 member 6	Hexose transport into mammalian cells is catalyzed by a family of membrane proteins, including SLC2A6, that contain 12 transmembrane domains and a number of critical conserved residues.[supplied by OMIM, Jul 2002]
SLC2A7	chr1	9003300	9026345	-	ENSG00000197241.3	protein_coding	GLUT-7|GLUT7|hGLUT7	1p36.23	solute carrier family 2 member 7	SLC2A7 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Li et al., 2004). This family of transporters shows conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008]
SLC2A8	chr9	127397138	127408424	+	ENSG00000136856.17	protein_coding	GLUT8|GLUTX1	9q33.3	solute carrier family 2 member 8	This gene belongs to the solute carrier 2A family, which includes intracellular glucose transporters. Based on sequence comparison, the glucose transporters are grouped into three classes and this gene is a member of class II. The encoded protein, like other members of the family, contains several conserved residues and motifs and 12 transmembrane domains with both amino and carboxyl ends being on the cytosolic side of the membrane. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]
SLC2A9	chr4	9771153	10054936	-	ENSG00000109667.11	protein_coding	GLUT9|GLUTX|UAQTL2|URATv1	4p16.1	solute carrier family 2 member 9	This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
SLC30A1	chr1	211571568	211578742	-	ENSG00000170385.9	protein_coding	ZNT1|ZRC1	1q32.3	solute carrier family 30 member 1	Ubiquitous expression in liver (RPKM 22.8), duodenum (RPKM 15.1) and 25 other tissues
SLC30A10	chr1	219685427	219958647	-	ENSG00000196660.10	protein_coding	HMDPC|HMNDYT1|ZNT10|ZNT8|ZRC1|ZnT-10	1q41	solute carrier family 30 member 10	This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]
SLC30A2	chr1	26037252	26046133	-	ENSG00000158014.14	protein_coding	PP12488|TNZD|ZNT2|ZnT-2	1p36.11	solute carrier family 30 member 2	The protein encoded by this gene is a zinc transporter that acts as a homodimer. The encoded protein plays a role in secreting zinc into breast milk. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
SLC30A3	chr2	27253684	27275817	-	ENSG00000115194.10	protein_coding	ZNT3	2p23.3	solute carrier family 30 member 3	Biased expression in testis (RPKM 9.2), brain (RPKM 7.3) and 1 other tissue
SLC30A4	chr15	45479611	45522807	-	ENSG00000104154.6	protein_coding	ZNT4|znT-4	15q21.1|15q21.1	solute carrier family 30 member 4	Zinc is the second most abundant trace metal in the human body. It is an essential element, serving both a structural role, as in the formation of zinc fingers in DNA-binding proteins, and a catalytic role in metalloenzymes, such as pancreatic carboxypeptidases (e.g., MIM 114852), alkaline phosphatases (e.g., MIM 171760), various dehydrogenases, and superoxide dismutases (e.g., MIM 147450). SLC30A4, or ZNT4, belongs to the ZNT family of zinc transporters. ZNTs are involved in transporting zinc out of the cytoplasm and have similar structures, consisting of 6 transmembrane domains and a histidine-rich cytoplasmic loop (Huang and Gitschier, 1997 [PubMed 9354792]).[supplied by OMIM, Mar 2008]
SLC30A5	chr5	69093646	69131069	+	ENSG00000145740.18	protein_coding	ZNT5|ZNTL1|ZTL1|ZnT-5	5q13.1-q13.2	solute carrier family 30 member 5	This gene encodes a member of the SLC30A/ZnT family of zinc transporter proteins. ZnT proteins mediate both cellular zinc efflux and zinc sequestration into membrane-bound organelles. The encoded protein plays a role in the early secretory pathway as a heterodimer with zinc transporter 6, and may also regulate zinc sequestration into secretory granules of pancreatic beta cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Oct 2011]
SLC30A6	chr2	32165841	32224379	+	ENSG00000152683.14	protein_coding	MST103|MSTP103|ZNT6	2p22.3	solute carrier family 30 member 6	This gene encodes a member of a family of proteins that function as zinc transporters. This protein can regulate subcellular levels of zinc in the Golgi and vesicles. Expression of this gene is altered in the Alzheimers disease brain plaques. [provided by RefSeq, Aug 2016]
SLC30A7	chr1	100896076	100981753	+	ENSG00000162695.11	protein_coding	ZNT7|ZnT-7|ZnTL2	1p21.2	solute carrier family 30 member 7	Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A7, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM, Mar 2008]
SLC30A8	chr8	116950273	117176714	+	ENSG00000164756.12	protein_coding	ZNT8|ZnT-8	8q24.11	solute carrier family 30 member 8	The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
SLC30A9	chr4	41990472	42090457	+	ENSG00000014824.13	protein_coding	BILAPES|C4orf1|GAC63|HUEL|ZNT9	4p13	solute carrier family 30 member 9	Ubiquitous expression in kidney (RPKM 32.5), brain (RPKM 27.2) and 25 other tissues
SLC31A1	chr9	113221562	113264492	+	ENSG00000136868.10	protein_coding	COPT1|CTR1	9q32	solute carrier family 31 member 1	The protein encoded by this gene is a high-affinity copper transporter found in the cell membrane. The encoded protein functions as a homotrimer to effect the uptake of dietary copper. [provided by RefSeq, Aug 2011]
SLC31A2	chr9	113150942	113164137	+	ENSG00000136867.10	protein_coding	COPT2|CTR2|hCTR2	9q32	solute carrier family 31 member 2	Broad expression in salivary gland (RPKM 28.8), spleen (RPKM 6.8) and 18 other tissues
SLC32A1	chr20	38724462	38729372	+	ENSG00000101438.3	protein_coding	VGAT|VIAAT	20q11.23	solute carrier family 32 member 1	The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq, Jul 2008]
SLC33A1	chr3	155821024	155854429	-	ENSG00000169359.13	protein_coding	ACATN|AT-1|AT1|CCHLND|SPG42	3q25.31	solute carrier family 33 member 1	The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]
SLC34A1	chr5	177379235	177398848	+	ENSG00000131183.10	protein_coding	FRTS2|HCINF2|NAPI-3|NPHLOP1|NPT2|NPTIIa|SLC11|SLC17A2	5q35.3	solute carrier family 34 member 1	This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
SLC34A2	chr4	25655301	25678748	+	ENSG00000157765.11	protein_coding	NAPI-3B|NAPI-IIb|NPTIIb|PULAM	4p15.2	solute carrier family 34 member 2	The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2010]
SLC34A3	chr9	137230757	137236554	+	ENSG00000198569.9	protein_coding	HHRH|NPTIIc	9q34.3	solute carrier family 34 member 3	This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5 UTR have been found for this gene.[provided by RefSeq, Apr 2010]
SLC35A1	chr6	87470623	87512336	+	ENSG00000164414.17	protein_coding	CDG2F|CMPST|CST|hCST	6q15	solute carrier family 35 member A1	The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
SLC35A4	chr5	140564456	140569103	+	ENSG00000176087.14	protein_coding	-	5q31.3	solute carrier family 35 member A4	-
SLC35B1	chr17	49700943	49709014	-	ENSG00000121073.13	protein_coding	AXER|UGTREL1	17q21.33	solute carrier family 35 member B1	This gene encodes a nucleotide sugar transporter which is a member of solute carrier family 35. The transporters in this family are highly conserved hydrophobic proteins with multiple transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
SLC35B2	chr6	44254096	44257890	-	ENSG00000157593.18	protein_coding	PAPST1|SLL|UGTrel4	6p21.1	solute carrier family 35 member B2	Sulfotransferases (e.g., SULT4A1; MIM 608359) use an activated form of sulfate, 3-prime-phosphoadenosine 5-prime-phosphosulfate (PAPS), as a common sulfate donor for sulfation of glycoproteins, proteoglycans, and glycolipids in the endoplasmic reticulum and Golgi apparatus. SLC35B2 is located in the microsomal membrane and transports PAPS from the cytosol, where it is synthesized, into the Golgi lumen (Kamiyama et al., 2003 [PubMed 12716889]).[supplied by OMIM, Mar 2008]
SLC35B3	chr6	8413068	8435483	-	ENSG00000124786.9	protein_coding	C6orf196|CGI-19|PAPST2	6p24.3	solute carrier family 35 member B3	This gene is a member of the solute carrier family. The encoded protein is involved in the transport of 3-prime phosphoadenosine 5-prime phosphosulfate (PAPS) from the nucleus or the cytosol to the Golgi lumen. This gene has been reported to be expressed preferentially in the human colon tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
SLC35B4	chr7	134289332	134317051	-	ENSG00000205060.10	protein_coding	YEA|YEA4	7q33	solute carrier family 35 member B4	Glycosyltransferases, such as SLC35B4, transport nucleotide sugars from the cytoplasm where they are synthesized, to the Golgi apparatus where they are utilized in the synthesis of glycoproteins, glycolipids, and proteoglycans (Ashikov et al., 2005 [PubMed 15911612]).[supplied by OMIM, Mar 2008]
SLC35C1	chr11	45804072	45813015	+	ENSG00000181830.8	protein_coding	CDG2C|FUCT1	11p11.2	solute carrier family 35 member C1	This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
SLC35C2	chr20	46345980	46364458	-	ENSG00000080189.14	protein_coding	BA394O2.1|C20orf5|CGI-15|OVCOV1	20q13.12	solute carrier family 35 member C2	This gene encodes a member of the triose-phosphate transporter protein family. This gene is regulated by oxygen tension, is induced in hypoxic trophoblast cells, and is overexpressed in ovarian cancer. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013]
SLC35D1	chr1	66999332	67054099	-	ENSG00000116704.7	protein_coding	SHNKND|UGTREL7	1p31.3	solute carrier family 35 member D1	Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.[provided by RefSeq, Sep 2009]
SLC35D2	chr9	96320706	96383710	-	ENSG00000130958.11	protein_coding	HFRC1|SQV7L|UGTrel8|hfrc	9q22.32	solute carrier family 35 member D2	Nucleotide sugars, which are synthesized in the cytosol or the nucleus, are high-energy donor substrates for glycosyltransferases located in the lumen of the endoplasmic reticulum and Golgi apparatus. Translocation of nucleotide sugars from the cytosol into the lumen compartment is mediated by specific nucleotide sugar transporters, such as SLC35D2 (Suda et al., 2004 [PubMed 15082721]).[supplied by OMIM, Mar 2008]
SLC35E1	chr19	16549831	16572382	-	ENSG00000127526.14	protein_coding	-	19p13.11	solute carrier family 35 member E1	-
SLC35E1P1	chr13	20607268	20608131	+	ENSG00000238286.1	processed_pseudogene	-	13q12.11	solute carrier family 35 member E1 pseudogene 1	-
SLC35E2A	chr1	 1727385	1746070	-	-	pseudogene	SLC35E2	1p36.33	solute carrier family 35 member E2A	Ubiquitous expression in brain (RPKM 10.4), ovary (RPKM 10.3) and 25 other tissues
SLC35E2B	chr1	1659529	1692728	-	ENSG00000189339.11	protein_coding	SLC35E2	1p36.33	solute carrier family 35 member E2B	Ubiquitous expression in ovary (RPKM 17.6), endometrium (RPKM 17.1) and 25 other tissues
SLC35E3	chr12	68746106	68793964	+	ENSG00000175782.9	protein_coding	BLOV1	12q15	solute carrier family 35 member E3	Ubiquitous expression in brain (RPKM 2.4), kidney (RPKM 2.2) and 25 other tissues
SLC35E4	chr22	30635652	30669016	+	ENSG00000100036.12	protein_coding	-	22q12.2	solute carrier family 35 member E4	-
SLC35F1	chr6	117907526	118317676	+	ENSG00000196376.10	protein_coding	C6orf169|dJ230I3.1	6q22.2-q22.31	solute carrier family 35 member F1	Biased expression in brain (RPKM 17.3), heart (RPKM 1.2) and 1 other tissue
SLC35F2	chr11	107790991	107928293	-	ENSG00000110660.14	protein_coding	HSNOV1	11q22.3	solute carrier family 35 member F2	Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
SLC35F5	chr2	113705011	113756823	-	ENSG00000115084.13	protein_coding	-	2q14.1	solute carrier family 35 member F5	-
SLC35F6	chr2	26764284	26781231	+	ENSG00000213699.8	protein_coding	ANT2BP|C2orf18|TANGO9	2p23.3	solute carrier family 35 member F6	Ubiquitous expression in thyroid (RPKM 11.5), skin (RPKM 10.8) and 25 other tissues
SLC35G1	chr10	93893973	93956062	+	ENSG00000176273.14	protein_coding	C10orf60|POST|TMEM20	10q23.33	solute carrier family 35 member G1	This gene encodes a transmembrane protein which is a member of the drug/metabolite transporter protein superfamily. The encoded protein may play a role in the regulation of calcium levels inside the cell. [provided by RefSeq, Sep 2016]
SLC35G2	chr3	136818647	136855892	+	ENSG00000168917.8	protein_coding	TMEM22	3q22.3	solute carrier family 35 member G2	Broad expression in adrenal (RPKM 2.6), testis (RPKM 2.2) and 23 other tissues
SLC35G5	chr8	11330888	11332208	+	ENSG00000177710.5	protein_coding	AMAC|AMAC1L2	8p23.1	solute carrier family 35 member G5	This gene is intronless and probably arose from retrotransposition of a similar gene. It has high sequence similarity to the gene encoding acyl-malonyl condensing enzyme on chromosome 17. [provided by RefSeq, Aug 2011]
SLC35G6	chr17	7481332	7483496	+	ENSG00000259224.2	protein_coding	AMAC1L3|TMEM21B	17p13.1	solute carrier family 35 member G6	Restricted expression toward testis (RPKM 1.7)
SLC36A1	chr5	151437046	151492381	+	ENSG00000123643.12	protein_coding	Dct1|LYAAT1|PAT1|TRAMD3	5q33.1	solute carrier family 36 member 1	This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
SLC36A4	chr11	93144171	93197964	-	ENSG00000180773.14	protein_coding	PAT4	11q21	solute carrier family 36 member 4	SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 amino acids and have 9 to 11 transmembrane domains. Unlike other SLC36 family members, which are proton-coupled amino acid transporters, SLC36A4 is a high-affinity/low-capacity non-proton-coupled amino acid transporter (Pillai and Meredith, 2011 [PubMed 21097500]).[supplied by OMIM, Feb 2011]
SLC37A1	chr21	42496008	42581440	+	ENSG00000160190.13	protein_coding	G3PP	21q22.3	solute carrier family 37 member 1	The protein encoded by this gene localizes to the endoplasmic reticulum (ER) membrane. This protein translocates glucose-6-phosphate from the cytoplasm into the lumen of the ER for hydrolysis into glucose by another ER membrane protein. This gene is a member of the solute carrier 37 gene family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
SLC37A2	chr11	125063067	125090312	+	ENSG00000134955.11	protein_coding	SPX2|pp11662	11q24.2	solute carrier family 37 member 2	Broad expression in adrenal (RPKM 13.0), salivary gland (RPKM 12.4) and 18 other tissues
SLC37A3	chr7	140293693	140404433	-	ENSG00000157800.17	protein_coding	SPX3	7q34	solute carrier family 37 member 3	Ubiquitous expression in endometrium (RPKM 19.0), thyroid (RPKM 9.8) and 25 other tissues
SLC37A4	chr11	119024114	119030906	-	ENSG00000137700.17	protein_coding	CDG2W|G6PT1|G6PT2|G6PT3|GSD1b|GSD1c|GSD1d|PRO0685|TRG-19|TRG19	11q23.3	solute carrier family 37 member 4	This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009]
SLC38A1	chr12	46183063	46270017	-	ENSG00000111371.15	protein_coding	ATA1|NAT2|SAT1|SNAT1	12q13.11	solute carrier family 38 member 1	Amino acid transporters play essential roles in the uptake of nutrients, production of energy, chemical metabolism, detoxification, and neurotransmitter cycling. SLC38A1 is an important transporter of glutamine, an intermediate in the detoxification of ammonia and the production of urea. Glutamine serves as a precursor for the synaptic transmitter, glutamate (Gu et al., 2001 [PubMed 11325958]).[supplied by OMIM, Mar 2008]
SLC38A10	chr17	81245000	81295547	-	ENSG00000157637.12	protein_coding	PP1744	17q25.3	solute carrier family 38 member 10	Ubiquitous expression in spleen (RPKM 17.0), placenta (RPKM 15.5) and 25 other tissues
SLC38A11	chr2	164896186	164955525	-	ENSG00000169507.9	protein_coding	AVT2	2q24.3	solute carrier family 38 member 11	Broad expression in gall bladder (RPKM 4.2), stomach (RPKM 2.0) and 14 other tissues
SLC38A2	chr12	46358189	46372867	-	ENSG00000134294.13	protein_coding	ATA2|PRO1068|SAT2|SNAT2	12q13.11	solute carrier family 38 member 2	Ubiquitous expression in skin (RPKM 105.3), liver (RPKM 101.3) and 25 other tissues
SLC38A3	chr3	50205246	50221486	+	ENSG00000188338.14	protein_coding	G17|NAT1|SN1|SNAT3	3p21.31	solute carrier family 38 member 3	Enables L-amino acid transmembrane transporter activity. Involved in amino acid transport. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
SLC38A4	chr12	46764761	46832408	-	ENSG00000139209.15	protein_coding	ATA3|NAT3|PAAT|SNAT4	12q13.11	solute carrier family 38 member 4	SLC38A4 is found predominantly in liver and transports both cationic and neutral amino acids. The transport of cationic amino acids by SLC38A4 is Na(+) and pH independent, while the transport of neutral amino acids is Na(+) and pH dependent (Hatanaka et al., 2001 [PubMed 11342143]).[supplied by OMIM, Mar 2008]
SLC38A5	chrX	48458537	48470256	-	ENSG00000017483.14	protein_coding	JM24|SN2|SNAT5|pp7194	Xp11.23	solute carrier family 38 member 5	The protein encoded by this gene is a system N sodium-coupled amino acid transporter. The encoded protein transports glutamine, asparagine, histidine, serine, alanine, and glycine across the cell membrane, but does not transport charged amino acids, imino acids, or N-alkylated amino acids. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Aug 2013]
SLC38A6	chr14	60981114	61083733	+	ENSG00000139974.15	protein_coding	NAT-1|SNAT6	14q23.1	solute carrier family 38 member 6	Ubiquitous expression in testis (RPKM 2.1), gall bladder (RPKM 1.9) and 24 other tissues
SLC38A7	chr16	58665109	58685104	-	ENSG00000103042.8	protein_coding	SNAT7	16q21	solute carrier family 38 member 7	Broad expression in testis (RPKM 12.2), brain (RPKM 4.6) and 23 other tissues
SLC38A9	chr5	55625845	55773194	-	ENSG00000177058.11	protein_coding	URLC11	5q11.2	solute carrier family 38 member 9	Broad expression in placenta (RPKM 15.1), testis (RPKM 7.5) and 22 other tissues
SLC39A1	chr1	153959099	153968184	-	ENSG00000143570.17	protein_coding	ZIP1|ZIRTL	1q21.3	solute carrier family 39 member 1	This gene encodes a member of the zinc-iron permease family. The encoded protein is localized to the cell membrane and acts as a zinc uptake transporter. This gene has been linked to prostate cancer, breast cancer, and Alzheimers disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
SLC39A10	chr2	195575977	195737702	+	ENSG00000196950.13	protein_coding	LZT-Hs2	2q32.3	solute carrier family 39 member 10	Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A10 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008]
SLC39A11	chr17	72645949	73092712	-	ENSG00000133195.11	protein_coding	C17orf26|ZIP-11|ZIP11	17q24.3-q25.1	solute carrier family 39 member 11	Ubiquitous expression in thyroid (RPKM 5.6), stomach (RPKM 5.0) and 25 other tissues
SLC39A12	chr10	17951839	18043292	+	ENSG00000148482.11	protein_coding	LZT-Hs8|ZIP-12|ZIP12|bA570F3.1	10p12.33	solute carrier family 39 member 12	Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008]
SLC39A12-AS1	chr10	18001786	18010562	-	ENSG00000226083.5	antisense	-	10p12.33	SLC39A12 antisense RNA 1	-
SLC39A13	chr11	47407132	47416501	+	ENSG00000165915.13	protein_coding	EDSSPD3|LZT-Hs9|SCDEDS|ZIP13	11p11.2	solute carrier family 39 member 13	This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome. Alternate transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
SLC39A14	chr8	22367249	22434129	+	ENSG00000104635.13	protein_coding	HCIN|HMNDYT2|LZT-Hs4|NET34|ZIP14|cig19	8p21.3	solute carrier family 39 member 14	This gene encodes a member of the the SLC39A family of divalent metal transporters that mediates the cellular uptake of manganese, zinc, iron, and cadmium. The encoded protein contains eight transmembrane domains, a histidine-rich motif, and a metalloprotease motif, and is expressed on the plasma membrane and the endocytic vesicle membrane. It is an important transporter of nontransferrin-bound iron and a critical regulator of manganese homeostasis. Naturally occurring mutations in this gene are associated with neurodegeneration with brain iron accumulation and early-onset parkinsonism-dystonia with hypermanganesemia. [provided by RefSeq, May 2017]
SLC39A2	chr14	20999255	21001871	+	ENSG00000165794.9	protein_coding	6A1|ETI-1|ZIP-2|ZIP2	14q11.2	solute carrier family 39 member 2	This gene encodes a member of the ZIP family of metal ion transporters. The encoded protein functions as a zinc transporter. Mutations in this gene may be associated with susceptibility to carotid artery disease. Multiple transcript variants have been described. [provided by RefSeq, Mar 2010]
SLC39A3	chr19	2732204	2740152	-	ENSG00000141873.10	protein_coding	ZIP-3|ZIP3	19p13.3	solute carrier family 39 member 3	Broad expression in testis (RPKM 7.9), brain (RPKM 4.5) and 25 other tissues
SLC39A4	chr8	144409742	144416895	-	ENSG00000147804.9	protein_coding	AEZ|AWMS2|ZIP4	8q24.3	solute carrier family 39 member 4	This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
SLC39A5	chr12	56230049	56237846	+	ENSG00000139540.11	protein_coding	LZT-Hs7|MYP24|ZIP5	12q13.3	solute carrier family 39 member 5	The protein encoded by this gene belongs to the ZIP family of zinc transporters that transport zinc into cells from outside, and play a crucial role in controlling intracellular zinc levels. Zinc is an essential cofactor for many enzymes and proteins involved in gene transcription, growth, development and differentiation. Mutations in this gene have been associated with autosomal dominant high myopia (MYP24). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
SLC39A6	chr18	36108532	36129385	-	ENSG00000141424.12	protein_coding	LIV-1|LIV1|ZIP6	18q12.2	solute carrier family 39 member 6	Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A6 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008]
SLC39A7	chr6	33200445	33204439	+	ENSG00000112473.17	protein_coding	D6S115E|D6S2244E|H2-KE4|HKE4|KE4|RING5|ZIP7	6p21.32	solute carrier family 39 member 7	The protein encoded by this gene transports zinc from the Golgi and endoplasmic reticulum to the cytoplasm. This transport may be important for activation of tyrosine kinases, some of which could be involved in cancer progression. Therefore, modulation of the encoded protein could be useful as a therapeutic agent against cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
SLC39A8	chr4	102251041	102431258	-	ENSG00000138821.12	protein_coding	BIGM103|CDG2N|LZT-Hs6|PP3105|ZIP8	4q24	solute carrier family 39 member 8	This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008]
SLC39A9	chr14	69398015	69462388	+	ENSG00000029364.11	protein_coding	ZIP-9|ZIP9	14q24.1	solute carrier family 39 member 9	Ubiquitous expression in thyroid (RPKM 15.0), kidney (RPKM 14.8) and 25 other tissues
SLC3A1	chr2	44275458	44321494	+	ENSG00000138079.13	protein_coding	ATR1|CSNU1|D2H|NBAT|RBAT	2p21	solute carrier family 3 member 1	This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
SLC3A2	chr11	62856102	62888875	+	ENSG00000168003.16	protein_coding	4F2|4F2HC|4T2HC|CD98|CD98HC|MDU1|NACAE	11q12.3	solute carrier family 3 member 2	This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded transporter plays a role in regulation of intracellular calcium levels and transports L-type amino acids. Alternatively spliced transcript variants, encoding different isoforms, have been characterized. [provided by RefSeq, Nov 2010]
SLC40A1	chr2	189560579	189583758	-	ENSG00000138449.10	protein_coding	FPN1|HFE4|IREG1|MST079|MSTP079|MTP1|SLC11A3	2q32.2	solute carrier family 40 member 1	The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008]
SLC41A1	chr1	205789093	205813748	-	ENSG00000133065.10	protein_coding	MgtE|NPHPL2	1q32.1	solute carrier family 41 member 1	Broad expression in heart (RPKM 55.1), testis (RPKM 27.0) and 20 other tissues
SLC41A2	chr12	104802553	104958744	-	ENSG00000136052.9	protein_coding	SLC41A1-L1	12q23.3	solute carrier family 41 member 2	Broad expression in liver (RPKM 11.3), duodenum (RPKM 5.8) and 20 other tissues
SLC43A1	chr11	57484534	57515786	-	ENSG00000149150.8	protein_coding	LAT3|PB39|POV1|R00504	11q12.1	solute carrier family 43 member 1	SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).[supplied by OMIM, Mar 2008]
SLC43A2	chr17	1569267	1628886	-	ENSG00000167703.14	protein_coding	LAT4	17p13.3	solute carrier family 43 member 2	This gene encodes a member of the L-amino acid transporter-3 or SLC43 family of transporters. The encoded protein mediates sodium-, chloride-, and pH-independent transport of L-isomers of neutral amino acids, including leucine, phenylalanine, valine and methionine. This protein may contribute to the transfer of amino acids across the placental membrane to the fetus. [provided by RefSeq, Mar 2016]
SLC43A3	chr11	57406954	57427580	-	ENSG00000134802.17	protein_coding	EEG1|ENBT1|FOAP-13|PRO1659|SEEEG-1	11q12.1	solute carrier family 43 member 3	Ubiquitous expression in thyroid (RPKM 33.1), liver (RPKM 25.7) and 24 other tissues
SLC44A1	chr9	105244622	105439171	+	ENSG00000070214.15	protein_coding	CD92|CDW92|CHTL1|CONATOC|CTL1	9q31.1-q31.2	solute carrier family 44 member 1	Ubiquitous expression in colon (RPKM 21.5), thyroid (RPKM 20.3) and 25 other tissues
SLC44A2	chr19	10602457	10644559	+	ENSG00000129353.14	protein_coding	CTL2|PP1292	19p13.2	solute carrier family 44 member 2	Ubiquitous expression in placenta (RPKM 82.0), spleen (RPKM 69.3) and 25 other tissues
SLC44A3	chr1	94820342	94895246	+	ENSG00000143036.16	protein_coding	CTL3	1p21.3	solute carrier family 44 member 3	Broad expression in kidney (RPKM 8.6), colon (RPKM 8.5) and 20 other tissues
SLC44A4	chr6	31863192	31879046	-	ENSG00000204385.10	protein_coding	C6orf29|CTL4|DFNA72|NG22|TPPT|hTPPT1	6p21.33	solute carrier family 44 member 4	The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
SLC45A1	chr1	8317826	8344167	+	ENSG00000162426.14	protein_coding	DNB5|IDDNPF|PAST-A	1p36.23	solute carrier family 45 member 1	This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 2014]
SLC45A3	chr1	205657851	205680459	-	ENSG00000158715.5	protein_coding	IPCA-2|IPCA-6|IPCA-8|IPCA6|PCANAP2|PCANAP6|PCANAP8|PRST	1q32.1	solute carrier family 45 member 3	Biased expression in prostate (RPKM 193.8) and stomach (RPKM 8.4)
SLC45A4	chr8	141207166	141308305	-	ENSG00000022567.9	protein_coding	-	8q24.3	solute carrier family 45 member 4	-
SLC46A1	chr17	28394756	28407197	-	ENSG00000076351.12	protein_coding	G21|HCP1|PCFT	17q11.2	solute carrier family 46 member 1	This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013]
SLC46A2	chr9	112878920	112890913	-	ENSG00000119457.7	protein_coding	Ly110|TSCOT	9q32	solute carrier family 46 member 2	Biased expression in lung (RPKM 9.2), skin (RPKM 5.1) and 6 other tissues
SLC46A3	chr13	28700064	28718970	-	ENSG00000139508.14	protein_coding	FKSG16	13q12.3	solute carrier family 46 member 3	The protein encoded by this gene is a member of a transmembrane protein family that transports small molecules across membranes. The encoded protein has been found in lysosomal membranes, where it can transport catabolites from the lysosomes to the cytoplasm. This protein has been shown to be an effective transporter of the cytotoxic drug maytansine, which is used in antibody-based targeting of cancer cells. [provided by RefSeq, Dec 2016]
SLC47A1	chr17	19495385	19579034	+	ENSG00000142494.13	protein_coding	MATE1	17p11.2	solute carrier family 47 member 1	This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008]
SLC47A2	chr17	19678288	19718979	-	ENSG00000180638.17	protein_coding	MATE2|MATE2-B|MATE2-K|MATE2K	17p11.2	solute carrier family 47 member 2	This gene encodes a protein belonging to a family of transporters involved in excretion of toxic electrolytes, both endogenous and exogenous, through urine and bile. This transporter family shares homology with the bacterial MATE (multidrug and toxin extrusion) protein family responsible for drug resistance. This gene is one of two members of the MATE transporter family located near each other on chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
SLC48A1	chr12	47753916	47782753	+	ENSG00000211584.13	protein_coding	HRG-1|HRG1|hHRG-1	12q13.11	solute carrier family 48 member 1	Ubiquitous expression in brain (RPKM 18.5), thyroid (RPKM 14.7) and 25 other tissues
SLC49A3	chr4	 676826	691624	-	ENSG00000169026	protein-coding	LP2561|MFSD7	4p16.3	solute carrier family 49 member 3	Ubiquitous expression in testis (RPKM 3.9), lung (RPKM 2.5) and 25 other tissues
SLC49A4	chr3	 122795069	122881139	+	ENSG00000138463	protein-coding	DIRC2|RCC4	3q21.1	solute carrier family 49 member 4	This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008]
SLC4A1	chr17	44248385	44268141	-	ENSG00000004939.13	protein_coding	AE1|BND3|CD233|CHC|DI|EMPB3|EPB3|FR|RTA1A|SAO|SPH4|SW|WD|WD1|WR	17q21.31	solute carrier family 4 member 1 (Diego blood group)	The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008]
SLC4A10	chr2	161424332	161985282	+	ENSG00000144290.16	protein_coding	NBCn2|NCBE	2q24.2	solute carrier family 4 member 10	This gene belongs to a small family of sodium-coupled bicarbonate transporters (NCBTs) that regulate the intracellular pH of neurons, the secretion of bicarbonate ions across the choroid plexus, and the pH of the brain extracellular fluid. The protein encoded by this gene was initially identified as a sodium-driven chloride bicarbonate exchanger (NCBE) though there is now evidence that its sodium/bicarbonate cotransport activity is independent of any chloride ion countertransport under physiological conditions. This gene is now classified as a member A10 of the SLC4 family of transmembrane solute carriers. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]
SLC4A11	chr20	3227417	3239190	-	ENSG00000088836.12	protein_coding	BTR1|CDPD1|CHED|CHED2|NABC1|dJ794I6.2	20p13	solute carrier family 4 member 11	This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]
SLC4A1AP	chr2	27663471	27694976	+	ENSG00000163798.13	protein_coding	HLC3	2p23.3	solute carrier family 4 member 1 adaptor protein	Ubiquitous expression in testis (RPKM 21.2), brain (RPKM 14.7) and 25 other tissues
SLC4A2	chr7	151057210	151076527	+	ENSG00000164889.13	protein_coding	AE2|BND3L|EPB3L1|HKB3|NBND3	7q36.1	solute carrier family 4 member 2	This gene encodes a member of the anion exchanger family of membrane transport proteins. The encoded protein regulates intracellular pH, biliary bicarbonate secretion, and chloride uptake. Reduced expression of this gene may be associated with primary biliary cirrhosis (PBC) in human patients, while differential expression of this gene may be associated with malignant hepatocellular carcinoma, colon and gastric cancers. [provided by RefSeq, Nov 2016]
SLC4A3	chr2	219627327	219641980	+	ENSG00000114923.16	protein_coding	AE3|CAE3/BAE3|SLC2C	2q35	solute carrier family 4 member 3	The protein encoded by this gene is a plasma membrane anion exchange protein. The encoded protein has been found in brain, heart, kidney, small intestine, and lung. [provided by RefSeq, May 2016]
SLC4A4	chr4	71186757	71572087	+	ENSG00000080493.15	protein_coding	HNBC1|KNBC|NBC1|NBC2|NBCe1-A|SLC4A5|hhNMC|kNBC1|pNBC	4q13.3	solute carrier family 4 member 4	This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
SLC4A5	chr2	74216242	74343414	-	ENSG00000188687.17	protein_coding	NBC4|NBCe2	2p13.1	solute carrier family 4 member 5	This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
SLC4A7	chr3	27372721	27484420	-	ENSG00000033867.16	protein_coding	NBC2|NBC3|NBCN1|SBC2|SLC4A6	3p24.1	solute carrier family 4 member 7	This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]
SLC4A9	chr5	140360202	140375143	+	ENSG00000113073.14	protein_coding	AE4	5q31.3	solute carrier family 4 member 9	The protein encoded by this gene is a membrane protein involved in anion exchange. Expression of this gene is mostly limited to the kidney. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
SLC50A1	chr1	155135344	155138857	+	ENSG00000169241.17	protein_coding	HsSWEET1|RAG1AP1|SCP|SWEET1|slv	1q22	solute carrier family 50 member 1	Ubiquitous expression in colon (RPKM 17.3), stomach (RPKM 15.0) and 25 other tissues
SLC51A	chr3	196211487	196243178	+	ENSG00000163959.9	protein_coding	OSTA|OSTalpha|PFIC6	3q29	solute carrier family 51 subunit alpha	Biased expression in small intestine (RPKM 36.5), liver (RPKM 24.2) and 6 other tissues
SLC52A1	chr17	5032600	5052009	-	ENSG00000132517.14	protein_coding	GPCR42|GPR172B|PAR2|RBFVD|RFT1|RFVT1|hRFT1|huPAR-2	17p13.2	solute carrier family 52 member 1	Biological redox reactions require electron donors and acceptor. Vitamin B2 is the source for the flavin in flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) which are common redox reagents. This gene encodes a member of the riboflavin (vitamin B2) transporter family. Haploinsufficiency of this protein can cause maternal riboflavin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013]
SLC52A2	chr8	144354135	144361272	+	ENSG00000185803.8	protein_coding	BVVLS2|D15Ertd747e|GPCR41|GPR172A|PAR1|RFT3|RFVT2|hRFT3	8q24.3	solute carrier family 52 member 2	This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. The water-soluble vitamin riboflavin is processed to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) which then act as intermediaries in many cellular metabolic reactions. Paralogous members of the riboflavin transporter gene family are located on chromosomes 17 and 20. Unlike other members of this family, this gene has higher expression in brain tissue than small intestine. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene have been associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia. [provided by RefSeq, Jul 2012]
SLC5A1	chr22	32043032	32113029	+	ENSG00000100170.9	protein_coding	D22S675|NAGT|SGLT1	22q12.3	solute carrier family 5 member 1	This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
SLC5A10	chr17	18950345	19022595	+	ENSG00000154025.15	protein_coding	SGLT-5|SGLT5	17p11.2	solute carrier family 5 member 10	This gene is a member of the sodium/glucose transporter family. Members of this family are sodium-dependent transporters and can be divided into two subfamilies based on sequence homology, one that co-transports sugars and the second that transports molecules such as ascorbate, choline, iodide, lipoate, monocaroboxylates, and pantothenate. The protein encoded by this gene has the highest affinity for mannose and has been reported to be most highly expressed in the kidney. This protein may function as a kidney-specific, sodium-dependent mannose and fructose co-transporter. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
SLC5A11	chr16	24845841	24911628	+	ENSG00000158865.12	protein_coding	KST1|RKST1|SGLT6|SMIT2	16p12.1	solute carrier family 5 member 11	Cotransporters, such as SLC5A11, represent a major class of proteins that make use of ion gradients to drive active transport for the cellular accumulation of nutrients, neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed 12039040].[supplied by OMIM, Mar 2008]
SLC5A12	chr11	26667019	26723427	-	ENSG00000148942.14	protein_coding	SMCT2	11p14.2	solute carrier family 5 member 12	Normal blood lactate is maintained at about 1.5 mM, and little filtered lactate is excreted in urine. Reabsorption of lactate is mediated by the low-affinity Na(+)-coupled lactate transporter SLC5A12 in the initial part of the proximal tubule and by the high-affinity Na(+)-coupled lactate transporter SLC5A8 (MIM 608044) in the distal proximal tubule (Gopal et al., 2007 [PubMed 17692818]).[supplied by OMIM, Dec 2008]
SLC5A2	chr16	31483002	31490860	+	ENSG00000140675.12	protein_coding	SGLT2	16p11.2	solute carrier family 5 member 2	This gene encodes a member of the sodium glucose cotransporter family which are sodium-dependent glucose transport proteins. The encoded protein is the major cotransporter involved in glucose reabsorption in the kidney. Mutations in this gene are associated with renal glucosuria. Two transcript variants, one protein-coding and one not, have been found for this gene. [provided by RefSeq, Feb 2015]
SLC5A3	chr21	34073570	34106262	+	ENSG00000198743.6	protein_coding	BCW2|SMIT|SMIT1|SMIT2	21q22.11	solute carrier family 5 member 3	Broad expression in kidney (RPKM 12.8), thyroid (RPKM 10.4) and 21 other tissues
SLC5A5	chr19	17871973	17895174	+	ENSG00000105641.3	protein_coding	NIS|TDH1	19p13.11	solute carrier family 5 member 5	This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the metabolic regulators triiodothyronine (T3) and tetraiodothyronine (T4). Mutations in this gene are associated with thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009]
SLC5A6	chr2	27199587	27212958	-	ENSG00000138074.14	protein_coding	NERIB|SMVT	2p23.3	solute carrier family 5 member 6	Broad expression in placenta (RPKM 17.5), testis (RPKM 16.1) and 24 other tissues
SLC5A8	chr12	101155493	101210407	-	ENSG00000256870.2	protein_coding	AIT|SMCT|SMCT1	12q23.1-q23.2	solute carrier family 5 member 8	SLC5A8 has been shown to transport iodide by a passive mechanism (Rodriguez et al., 2002 [PubMed 12107270]) and monocarboxylates and short-chain fatty acids by a sodium-coupled mechanism (Gopal et al., 2004 [PubMed 15322102]). In kidney, SLC5A8 functions as a high-affinity sodium-coupled lactate transporter involved in reabsorption of lactate and maintenance of blood lactate levels (Thangaraju et al., 2006 [PubMed 16873376]).[supplied by OMIM, Dec 2008]
SLC5A9	chr1	48222685	48248644	+	ENSG00000117834.12	protein_coding	SGLT4	1p33	solute carrier family 5 member 9	Biased expression in duodenum (RPKM 15.3), small intestine (RPKM 14.5) and 4 other tissues
SLC66A1	chr1	 19312326	19334463	+	ENSG00000040487	protein-coding	LAAT-1|LAAT1|PQLC2	1p36.13	solute carrier family 66 member 1	Ubiquitous expression in testis (RPKM 2.3), adrenal (RPKM 1.8) and 25 other tissues
SLC66A1L	chr3	 157543312	157601094	+	ENSG00000174899	pseudogene	C3orf55|PQLC2L|SLC66A2L	3q25.32	solute carrier family 66 member 1 like	Biased expression in fat (RPKM 5.2), thyroid (RPKM 2.0) and 4 other tissues
SLC66A2	chr18	 79902420	79951653	-	ENSG00000122490	protein-coding	PQLC1	18q23	solute carrier family 66 member 2	Ubiquitous expression in fat (RPKM 15.1), testis (RPKM 10.4) and 25 other tissues
SLC66A3	chr2	 11155467	11178856	+	ENSG00000162976	protein-coding	C2orf22|PQLC3	2p25.1	solute carrier family 66 member 3	Ubiquitous expression in spleen (RPKM 9.0), gall bladder (RPKM 7.5) and 25 other tissues
SLC6A1	chr3	10992724	11039247	+	ENSG00000157103.10	protein_coding	GABATHG|GABATR|GAT1|MAE	3p25.3	solute carrier family 6 member 1	The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. [provided by RefSeq, Jan 2017]
SLC6A10P	chr16	32877469	32885501	-	ENSG00000214617.9	transcribed_unprocessed_pseudogene	CT-2|CT2|SLC6A10|SLC6A10pA	16p11.2	solute carrier family 6 member 10, pseudogene	Biased expression in testis (RPKM 15.1), adrenal (RPKM 2.0) and 1 other tissue
SLC6A12	chr12	190077	214570	-	ENSG00000111181.12	protein_coding	BGT-1|BGT1|GAT2	12p13.33	solute carrier family 6 member 12	Biased expression in liver (RPKM 12.1), kidney (RPKM 10.0) and 5 other tissues
SLC6A13	chr12	220621	262873	-	ENSG00000010379.15	protein_coding	GAT-2|GAT2|GAT3	12p13.33	solute carrier family 6 member 13	Biased expression in kidney (RPKM 28.5) and liver (RPKM 1.5)
SLC6A16	chr19	49289638	49325225	-	ENSG00000063127.15	protein_coding	NT5|NTT5	19q13.33	solute carrier family 6 member 16	SLC6A16 shows structural characteristics of an Na(+)- and Cl(-)-dependent neurotransmitter transporter, including 12 transmembrane (TM) domains, intracellular N and C termini, and large extracellular loops containing multiple N-glycosylation sites.[supplied by OMIM, Mar 2008]
SLC6A17	chr1	110150486	110202202	+	ENSG00000197106.6	protein_coding	MRT48|NTT4	1p13.3	solute carrier family 6 member 17	The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. In mouse, the strongest expression of this gene was in cortical and hippocampal tissues where expression increased during embryonic brain development and peaked postnatally. Defects in this gene cause a form of autosomal recessive intellectual disability. [provided by RefSeq, Jul 2017]
SLC6A19	chr5	1201595	1225117	+	ENSG00000174358.15	protein_coding	B0AT1|HND	5p15.33	solute carrier family 6 member 19	This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene may result in Hartnup disorder, an inherited disease with symptoms such as pellagra, cerebellar ataxia, and psychosis. The expression and function of B0AT1 (SLC6A19) in intestinal cells depends on the presence of the accessory protein angiotensin-converting enzyme 2 (ACE2) which, among other functions, acts as a chaperone for membrane trafficking of B0AT1. The ACE2 is also the cellular receptor for severe acute respiratory syndrome-coronavirus (SARS-CoV) and for SARS-CoV-2 that is causing the coronavirus 2019 (COVID-19) pandemic [provided by RefSeq, Jul 2020]
SLC6A2	chr16	55655604	55706192	+	ENSG00000103546.18	protein_coding	NAT1|NET|NET1|SLC6A5	16q12.2	solute carrier family 6 member 2	This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
SLC6A20	chr3	45755450	45796535	-	ENSG00000163817.15	protein_coding	IMINO|SIT1|XT3|Xtrp3	3p21.31	solute carrier family 6 member 20	Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene belongs to the sodium:neurotransmitter symporter (SNF) family and functions as a proline transporter expressed in kidney and small intestine. Mutations in this gene are associated with Hyperglycinuria and Iminoglycinuria. [provided by RefSeq, Jul 2020]
SLC6A3	chr5	1392790	1445430	-	ENSG00000142319.17	protein_coding	DAT|DAT1|PKDYS|PKDYS1	5p15.33	solute carrier family 6 member 3	This gene encodes a dopamine transporter which is a member of the sodium- and chloride-dependent neurotransmitter transporter family. The 3 UTR of this gene contains a 40 bp tandem repeat, referred to as a variable number tandem repeat or VNTR, which can be present in 3 to 11 copies. Variation in the number of repeats is associated with idiopathic epilepsy, attention-deficit hyperactivity disorder, dependence on alcohol and cocaine, susceptibility to Parkinson disease and protection against nicotine dependence.[provided by RefSeq, Nov 2009]
SLC6A4	chr17	30194319	30236002	-	ENSG00000108576.9	protein_coding	5-HTT|5-HTTLPR|5HTT|HTT|OCD1|SERT|SERT1|hSERT	17q11.2	solute carrier family 6 member 4	This gene encodes an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons. The encoded protein terminates the action of serotonin and recycles it in a sodium-dependent manner. This protein is a target of psychomotor stimulants, such as amphetamines and cocaine, and is a member of the sodium:neurotransmitter symporter family. A repeat length polymorphism in the promoter of this gene has been shown to affect the rate of serotonin uptake. There have been conflicting results in the literature about the possible effect, if any, that this polymorphism may play in behavior and depression. [provided by RefSeq, May 2019]
SLC6A6	chr3	14402576	14489349	+	ENSG00000131389.16	protein_coding	HTRDC|TAUT	3p25.1	solute carrier family 6 member 6	This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
SLC6A7	chr5	150189957	150222788	+	ENSG00000011083.8	protein_coding	PROT	5q32	solute carrier family 6 member 7	This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008]
SLC6A8	chrX	153688099	153696593	+	ENSG00000130821.15	protein_coding	CCDS1|CRT|CRTR|CT1|CTR5	Xq28	solute carrier family 6 member 8	The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
SLC6A9	chr1	43991500	44031467	-	ENSG00000196517.11	protein_coding	GCENSG|GLYT1	1p34.1	solute carrier family 6 member 9	The amino acid glycine acts as an inhibitory neurotransmitter in the central nervous system. The protein encoded by this gene is one of two transporters that stop glycine signaling by removing it from the synaptic cleft. [provided by RefSeq, Jun 2016]
SLC7A1	chr13	29509410	29595688	-	ENSG00000139514.12	protein_coding	ATRC1|CAT-1|ERR|HCAT1|REC1L	13q12.3	solute carrier family 7 member 1	Ubiquitous expression in esophagus (RPKM 22.4), brain (RPKM 11.3) and 24 other tissues
SLC7A10	chr19	33208664	33225850	-	ENSG00000130876.11	protein_coding	ASC1|HASC-1|asc-1	19q13.11	solute carrier family 7 member 10	SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000 [PubMed 10863037]).[supplied by OMIM, Mar 2008]
SLC7A13	chr8	86214052	86321146	-	ENSG00000164893.8	protein_coding	AGT-1|AGT1|XAT2	8q21.3	solute carrier family 7 member 13	Restricted expression toward kidney (RPKM 11.0)
SLC7A14	chr3	170459584	170586074	-	ENSG00000013293.5	protein_coding	PPP1R142	3q26.2	solute carrier family 7 member 14	This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]
SLC7A2	chr8	17497088	17570573	+	ENSG00000003989.17	protein_coding	ATRC2|CAT2|HCAT2	8p22	solute carrier family 7 member 2	The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
SLC7A5	chr16	87830023	87869488	-	ENSG00000103257.8	protein_coding	4F2LC|CD98|D16S469E|E16|LAT1|MPE16	16q24.2	solute carrier family 7 member 5	Broad expression in testis (RPKM 35.6), bone marrow (RPKM 34.4) and 17 other tissues
SLC7A5P1	chr16	29613104	29613640	-	ENSG00000260727.1	unprocessed_pseudogene	DC49|LAT1-3TM|MLAS|hLAT1-3TM	16p11.2	solute carrier family 7 member 5 pseudogene 1	This locus represents a pseudogene of the L-type amino acid transporter 1. Transcripts initiating at this locus read through to downstream SMG1 pseudogene 2 (SMG1P2). [provided by RefSeq, Feb 2016]
SLC7A6	chr16	68264516	68301823	+	ENSG00000103064.13	protein_coding	LAT-2|LAT3|y+LAT-2	16q22.1	solute carrier family 7 member 6	Ubiquitous expression in fat (RPKM 11.5), lymph node (RPKM 10.0) and 24 other tissues
SLC7A6OS	chr16	68284503	68310946	-	ENSG00000103061.12	protein_coding	EPM12|Iwr1	16q22.1	solute carrier family 7 member 6 opposite strand	Ubiquitous expression in fat (RPKM 16.2), lymph node (RPKM 14.6) and 25 other tissues
SLC7A7	chr14	22773222	22829820	-	ENSG00000155465.18	protein_coding	LAT3|LPI|MOP-2|Y+LAT1|y+LAT-1	14q11.2	solute carrier family 7 member 7	The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]
SLC7A8	chr14	23125295	23183674	-	ENSG00000092068.19	protein_coding	LAT2|LPI-PC1	14q11.2	solute carrier family 7 member 8	Note: LAT2 (Gene ID: 7462) and SLC7A8 (Gene ID: 23428) share the LAT2 symbol/alias in common. LAT2 is sometimes used as an alternative name for solute carrier family 7 member 8 (SLC7A8), which can be confused with the official symbol for linker for activation of T cells family member 2 (LAT2). [05 Jul 2018]
SLC7A9	chr19	32830509	32869766	-	ENSG00000021488.12	protein_coding	BAT1|CSNU3	19q13.11	solute carrier family 7 member 9	This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]
SLC8A1	chr2	40097270	40611053	-	ENSG00000183023.18	protein_coding	NCX1	2p22.1	solute carrier family 8 member A1	In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004]
SLC8A1-AS1	chr2	39786453	40255209	+	ENSG00000227028.6	antisense	-	2p22.1	SLC8A1 antisense RNA 1	-
SLC8A3	chr14	70044217	70189070	-	ENSG00000100678.18	protein_coding	NCX3	14q24.2	solute carrier family 8 member A3	This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq, Aug 2013]
SLC8B1	chr12	113298759	113359493	-	ENSG00000089060.11	protein_coding	NCKX6|NCLX|SLC24A6	12q24.13	solute carrier family 8 member B1	SLC24A6 belongs to a family of potassium-dependent sodium/calcium exchangers that maintain cellular calcium homeostasis through the electrogenic countertransport of 4 sodium ions for 1 calcium ion and 1 potassium ion (Cai and Lytton, 2004 [PubMed 14625281]).[supplied by OMIM, Mar 2008]
SLC9A1	chr1	27098815	27166981	-	ENSG00000090020.10	protein_coding	APNH|LIKNS|NHE-1|NHE1|PPP1R143	1p36.11	solute carrier family 9 member A1	This gene encodes a Na+/H+ antiporter that is a member of the solute carrier family 9. The encoded protein is a plasma membrane transporter that is expressed in the kidney and intestine. This protein plays a central role in regulating pH homeostasis, cell migration and cell volume. This protein may also be involved in tumor growth. [provided by RefSeq, Sep 2011]
SLC9A2	chr2	102619707	102711318	+	ENSG00000115616.2	protein_coding	NHE2	2q12.1	solute carrier family 9 member A2	This gene encodes a member of the sodium-hydrogen exchanger (NHE) protein family. These proteins are involved in sodium-ion transport by exchanging intracellular hydrogen ions to external sodium ions and help in the regulation of cell pH and volume. The encoded protein is localized to the apical membrane and is involved in apical absorption of sodium. [provided by RefSeq, Jun 2016]
SLC9A3	chr5	473310	524332	-	ENSG00000066230.10	protein_coding	DIAR8|NHE-3|NHE3	5p15.33	solute carrier family 9 member A3	The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]
SLC9A3P2	chr22	20652730	20654750	+	ENSG00000238125.1	processed_pseudogene	-	22q11.21	solute carrier family 9 member 3 pseudogene 2	-
SLC9A3P3	chr10	50025135	50027363	-	ENSG00000226631.1	processed_pseudogene	-	10q11.23	solute carrier family 9 member 3 pseudogene 3	-
SLC9A3R1	chr17	74748652	74769353	+	ENSG00000109062.11	protein_coding	EBP50|NHERF|NHERF-1|NHERF1|NPHLOP2	17q25.1	SLC9A3 regulator 1	This gene encodes a sodium/hydrogen exchanger regulatory cofactor. The protein interacts with and regulates various proteins including the cystic fibrosis transmembrane conductance regulator and G-protein coupled receptors such as the beta2-adrenergic receptor and the parathyroid hormone 1 receptor. The protein also interacts with proteins that function as linkers between integral membrane and cytoskeletal proteins. The protein localizes to actin-rich structures including membrane ruffles, microvilli, and filopodia. Mutations in this gene result in hypophosphatemic nephrolithiasis/osteoporosis type 2, and loss of heterozygosity of this gene is implicated in breast cancer.[provided by RefSeq, Sep 2009]
SLC9A3R2	chr16	2025356	2039026	+	ENSG00000065054.13	protein_coding	E3KARP|NHE3RF2|NHERF-2|NHERF2|OCTS2|SIP-1|SIP1|TKA-1	16p13.3	SLC9A3 regulator 2	This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular processes by binding to and regulating the membrane expression and protein-protein interactions of membrane receptors and transport proteins. The encoded protein plays a role in intestinal sodium absorption by regulating the activity of the sodium/hydrogen exchanger 3, and may also regulate the cystic fibrosis transmembrane regulator (CFTR) ion channel. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
SLC9A4	chr2	102473303	102533972	+	ENSG00000180251.4	protein_coding	NHE4	2q12.1	solute carrier family 9 member A4	Biased expression in stomach (RPKM 24.9) and kidney (RPKM 5.2)
SLC9A5	chr16	67237683	67272190	+	ENSG00000135740.16	protein_coding	NHE5	16q22.1	solute carrier family 9 member A5	Biased expression in spleen (RPKM 6.3), testis (RPKM 2.2) and 7 other tissues
SLC9A8	chr20	49812713	49892242	+	ENSG00000197818.11	protein_coding	NHE-8|NHE8	20q13.13	solute carrier family 9 member A8	Sodium-hydrogen exchangers (NHEs), such as SLC9A8, are integral transmembrane proteins that exchange extracellular Na+ for intracellular H+. NHEs have multiple functions, including intracellular pH homeostasis, cell volume regulation, and electroneutral NaCl absorption in epithelia (Xu et al., 2008 [PubMed 18209477]).[supplied by OMIM, Apr 2009]
SLC9A9	chr3	143265222	143848531	-	ENSG00000181804.14	protein_coding	AUTS16|NHE9	3q24	solute carrier family 9 member A9	This gene encodes a sodium/proton exchanger that is a member of the solute carrier 9 protein family. The encoded protein localizes the to the late recycling endosomes and may play an important role in maintaining cation homeostasis. Mutations in this gene are associated with autism susceptibility 16 and attention-deficit/hyperactivity disorder. [provided by RefSeq, Mar 2012]
SLC9B1	chr4	102885048	103019739	-	ENSG00000164037.16	protein_coding	NHA1|NHEDC1	4q24	solute carrier family 9 member B1	The protein encoded by this gene is a sodium/hydrogen exchanger and transmembrane protein. Highly conserved orthologs of this gene have been found in other mammalian species. The expression of this gene may be limited to testis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
SLC9B2	chr4	103019868	103085829	-	ENSG00000164038.14	protein_coding	NHA2|NHE10|NHEDC2	4q24	solute carrier family 9 member B2	Sodium hydrogen antiporters, such as NHEDC2, convert the proton motive force established by the respiratory chain or the F1F0 mitochondrial ATPase into sodium gradients that drive other energy-requiring processes, transduce environmental signals into cell responses, or function in drug efflux (Xiang et al., 2007 [PubMed 18000046]).[supplied by OMIM, Mar 2008]
SLC9C1	chr3	112140887	112294258	-	ENSG00000172139.14	protein_coding	NHE|NHE-10|SLC9A10|sperm-NHE	3q13.2	solute carrier family 9 member C1	SLC9A10 is a member of the sodium-hydrogen exchanger (NHE) family (see SLC9A1, MIM 107310) and is required for male fertility and sperm motility (Wang et al., 2003 [PubMed 14634667]).[supplied by OMIM, Apr 2009]
SLC9C2	chr1	173500464	173603094	-	ENSG00000162753.11	protein_coding	SLC9A11	1q25.1	solute carrier family 9 member C2 (putative)	Restricted expression toward testis (RPKM 4.6)
SLCO1A2	chr12	21264600	21419594	-	ENSG00000084453.16	protein_coding	OATP|OATP-A|OATP1A2|SLC21A3	12p12.1	solute carrier organic anion transporter family member 1A2	This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2008]
SLCO1B1	chr12	21131202	21239246	+	ENSG00000134538.2	protein_coding	HBLRR|LST-1|LST1|OATP-C|OATP1B1|OATP2|OATPC|SLC21A6	12p12.1	solute carrier organic anion transporter family member 1B1	This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function. [provided by RefSeq, Mar 2009]
SLCO1C1	chr12	20695355	20753386	+	ENSG00000139155.8	protein_coding	OATP-F|OATP1|OATP14|OATP1C1|OATPF|OATPRP5|SLC21A14	12p12.2	solute carrier organic anion transporter family member 1C1	This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. This protein has particularly high affinity for the thyroid hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine. Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
SLCO2A1	chr3	133932696	134052184	-	ENSG00000174640.12	protein_coding	MATR1|OATP2A1|PGT|PHOAD|PHOAR2|SLC21A2	3q22.1-q22.2	solute carrier organic anion transporter family member 2A1	This gene encodes a prostaglandin transporter that is a member of the 12-membrane-spanning superfamily of transporters. The encoded protein may be involved in mediating the uptake and clearance of prostaglandins in numerous tissues. [provided by RefSeq, Dec 2011]
SLCO2B1	chr11	75100563	75206549	+	ENSG00000137491.14	protein_coding	OATP-B|OATP2B1|OATPB|SLC21A9	11q13.4	solute carrier organic anion transporter family member 2B1	This locus encodes a member of the organic anion-transporting polypeptide family of membrane proteins. The protein encoded by this locus may function in regulation of placental uptake of sulfated steroids. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]
SLCO3A1	chr15	91853695	92172435	+	ENSG00000176463.13	protein_coding	OATP-D|OATP-RP3|OATP3A1|OATPD|OATPRP3|SLC21A11	15q26.1	solute carrier organic anion transporter family member 3A1	Broad expression in testis (RPKM 11.4), lung (RPKM 6.4) and 23 other tissues
SLCO4C1	chr5	102233986	102296549	-	ENSG00000173930.8	protein_coding	OATP-H|OATP-M1|OATP4C1|OATPX|PRO2176|SLC21A20	5q21.1	solute carrier organic anion transporter family member 4C1	SLCO4C1 belongs to the organic anion transporter (OATP) family. OATPs are involved in the membrane transport of bile acids, conjugated steroids, thyroid hormone, eicosanoids, peptides, and numerous drugs in many tissues (Mikkaichi et al., 2004 [PubMed 14993604]).[supplied by OMIM, Mar 2008]
SLCO5A1	chr8	69667047	69835064	-	ENSG00000137571.10	protein_coding	OATP-J|OATP-RP4|OATP5A1|OATPJ|OATPRP4|SLC21A15	8q13.3	solute carrier organic anion transporter family member 5A1	This gene encodes a 12 transmembrane domain protein that is a member of the solute carrier organic anion transporter superfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
SLCO6A1	chr5	102371782	102499016	-	ENSG00000205359.9	protein_coding	CT48|GST|OATP-I|OATP6A1|OATPY	5q21.1	solute carrier organic anion transporter family member 6A1	Restricted expression toward testis (RPKM 7.9)
SLF1	chr5	94618347	94739436	+	ENSG00000133302.12	protein_coding	ANKRD32|BRCTD1|BRCTx	5q15	SMC5-SMC6 complex localization factor 1	Broad expression in testis (RPKM 3.1), bone marrow (RPKM 1.1) and 23 other tissues
SLF2	chr10	100912569	100965136	+	ENSG00000119906.11	protein_coding	C10orf6|FAM178A	10q24.31	SMC5-SMC6 complex localization factor 2	Broad expression in testis (RPKM 12.5), ovary (RPKM 7.5) and 24 other tissues
SLFN11	chr17	35350305	35373701	-	ENSG00000172716.16	protein_coding	SLFN8/9	17q12	schlafen family member 11	Ubiquitous expression in lung (RPKM 14.8), thyroid (RPKM 12.0) and 24 other tissues
SLFN12	chr17	35411060	35433283	-	ENSG00000172123.12	protein_coding	SLFN3	17q12	schlafen family member 12	Predicted to act upstream of or within negative regulation of cell population proliferation. [provided by Alliance of Genome Resources, Apr 2022]
SLFN12L	chr17	35464249	35537861	-	ENSG00000205045.8	protein_coding	-	17q12	schlafen family member 12 like	-
SLFN13	chr17	35435096	35448837	-	ENSG00000154760.13	protein_coding	SLFN10|hSLFN13	17q12	schlafen family member 13	Broad expression in bone marrow (RPKM 5.2), spleen (RPKM 4.2) and 24 other tissues
SLFN14	chr17	35548125	35558098	-	ENSG00000236320.3	protein_coding	BDPLT20	17q12	schlafen family member 14	The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016]
SLFNL1	chr1	41015597	41023237	-	ENSG00000171790.15	protein_coding	-	1p34.2	schlafen like 1	-
SLFNL1-AS1	chr1	41014590	41043890	+	ENSG00000281207.1	antisense	-	1p34.2	SLFNL1 antisense RNA 1	-
SLIT1	chr10	96998038	97185920	-	ENSG00000187122.16	protein_coding	MEGF4|SLIL1|SLIT-1|SLIT3	10q24.1	slit guidance ligand 1	Biased expression in brain (RPKM 15.8) and thyroid (RPKM 1.3)
SLIT2	chr4	20253260	20620561	+	ENSG00000145147.19	protein_coding	SLIL3|Slit-2	4p15.31	slit guidance ligand 2	This gene encodes a member of the slit family of secreted glycoproteins, which are ligands for the Robo family of immunoglobulin receptors. Slit proteins play highly conserved roles in axon guidance and neuronal migration and may also have functions during other cell migration processes including leukocyte migration. Members of the slit family are characterized by an N-terminal signal peptide, four leucine-rich repeats, nine epidermal growth factor repeats, and a C-terminal cysteine knot. Proteolytic processing of this protein gives rise to an N-terminal fragment that contains the four leucine-rich repeats and five epidermal growth factor repeats and a C-terminal fragment that contains four epidermal growth factor repeats and the cysteine knot. Both full length and cleaved proteins are secreted extracellularly and can function in axon repulsion as well as other specific processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
SLIT3	chr5	168661733	169301129	-	ENSG00000184347.14	protein_coding	MEGF5|SLIL2|SLIT1|Slit-3|slit2	5q34-q35.1	slit guidance ligand 3	The protein encoded by this gene is secreted, likely interacting with roundabout homolog receptors to effect cell migration. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
SLITRK1	chr13	83877205	83882393	-	ENSG00000178235.7	protein_coding	LRRC12|TTM	13q31.1	SLIT and NTRK like family member 1	This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. However, the protein encoded by this gene lacks the region of homology to neurotrophin receptors. This protein is thought to be involved in neurite outgrowth. Mutations in this gene may be associated with Tourette syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
SLITRK4	chrX	143622790	143635777	-	ENSG00000179542.15	protein_coding	-	Xq27.3	SLIT and NTRK like family member 4	Biased expression in adrenal (RPKM 4.6), brain (RPKM 4.3) and 9 other tissues
SLITRK5	chr13	87672615	87696272	+	ENSG00000165300.7	protein_coding	LRRC11|bA364G4.2	13q31.2	SLIT and NTRK like family member 5	Members of the SLITRK family, such as SLITRK5, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK5, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM, Mar 2008]
SLITRK6	chr13	85792790	85799488	-	ENSG00000184564.8	protein_coding	DFNMYP	13q31.1	SLIT and NTRK like family member 6	This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. This protein functions as a regulator of neurite outgrowth required for normal hearing and vision. Mutations in this gene are a cause of myopia and deafness. [provided by RefSeq, Dec 2014]
SLK	chr10	103967201	104029233	+	ENSG00000065613.13	protein_coding	LOSK|STK2|bA16H23.1|se20-9	10q24.33-q25.1	STE20 like kinase	Ubiquitous expression in esophagus (RPKM 35.4), lung (RPKM 15.9) and 25 other tissues
SLMAP	chr3	57755450	57929168	+	ENSG00000163681.14	protein_coding	SLAP	3p14.3	sarcolemma associated protein	This gene encodes a component of a conserved striatin-interacting phosphatase and kinase complex. Striatin family complexes participate in a variety of cellular processes including signaling, cell cycle control, cell migration, Golgi assembly, and apoptosis. The protein encoded by this gene is a coiled-coil, tail-anchored membrane protein with a single C-terminal transmembrane domain that is posttranslationally inserted into membranes. Mutations in this gene are associated with Brugada syndrome, a cardiac channelopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
SLPI	chr20	45252239	45254564	-	ENSG00000124107.5	protein_coding	ALK1|ALP|BLPI|HUSI|HUSI-I|MPI|WAP4|WFDC4	20q13.12	secretory leukocyte peptidase inhibitor	This gene encodes a secreted inhibitor which protects epithelial tissues from serine proteases. It is found in various secretions including seminal plasma, cervical mucus, and bronchial secretions, and has affinity for trypsin, leukocyte elastase, and cathepsin G. Its inhibitory effect contributes to the immune response by protecting epithelial surfaces from attack by endogenous proteolytic enzymes. This antimicrobial protein has antibacterial, antifungal and antiviral activity. [provided by RefSeq, Nov 2014]
SLTM	chr15	58879045	58933653	-	ENSG00000137776.16	protein_coding	Met	15q22.1	SAFB like transcription modulator	Ubiquitous expression in bone marrow (RPKM 26.9), thyroid (RPKM 20.0) and 25 other tissues
SLU7	chr5	160401641	160421711	-	ENSG00000164609.9	protein_coding	9G8|hSlu7	5q33.3	SLU7 homolog, splicing factor	Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is a splicing factor that has been found to be essential during the second catalytic step in the pre-mRNA splicing process. It associates with the spliceosome and contains a zinc knuckle motif that is found in other splicing factors and is involved in protein-nucleic acid and protein-protein interactions. [provided by RefSeq, Jul 2008]
SLURP1	chr8	142740944	142742411	-	ENSG00000126233.1	protein_coding	ANUP|ARS|ArsB|LY6-MT|LY6LS|MDM	8q24.3	secreted LY6/PLAUR domain containing 1	The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is thought that this secreted protein contains antitumor activity. Mutations in this gene have been associated with Mal de Meleda, a rare autosomal recessive skin disorder. This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors. [provided by RefSeq, Jul 2008]
SLX1A	chr16	30193887	30197561	+	ENSG00000132207.17	protein_coding	GIYD1	16p11.2	SLX1 homolog A, structure-specific endonuclease subunit	This gene encodes a protein that is an important regulator of genome stability. The protein represents the catalytic subunit of the SLX1-SLX4 structure-specific endonuclease, which can resolve DNA secondary structures that are formed during repair and recombination processes. Two identical copies of this gene are located on the p arm of chromosome 16 due to a segmental duplication; this record represents the more centromeric copy. Alternative splicing results in multiple transcript variants. Read-through transcription also occurs between this gene and the downstream SULT1A3 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3) gene. [provided by RefSeq, Nov 2010]
SLX1A-SULT1A3	chr16	30193892	30204310	+	ENSG00000213599.10	processed_transcript	HAST3|M-PST|ST1A3|STM|SULT1A3|TL-PST	16p11.2	SLX1A-SULT1A3 readthrough (NMD candidate)	This locus represents naturally occurring read-through transcription between the neighboring SLX1A (SLX1 structure-specific endonuclease subunit homolog A) and SULT1A3 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3) genes on the short arm of chromosome 16. A duplicate read-through locus also exists between the SLX1B and SULT1A4 genes located approximately 730 kb upstream on the same chromosome. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2017]
SLX1B	chr16	29454501	29458219	+	ENSG00000181625.17	protein_coding	GIYD2	16p11.2	SLX1 homolog B, structure-specific endonuclease subunit	This gene encodes a protein that is an important regulator of genome stability. The protein represents the catalytic subunit of the SLX1-SLX4 structure-specific endonuclease, which can resolve DNA secondary structures that are formed during repair and recombination processes. Two identical copies of this gene are located on the p arm of chromosome 16 due to a segmental duplication; this record represents the more telomeric copy. Alternative splicing results in multiple transcript variants. Read-through transcription also occurs between this gene and the downstream SULT1A4 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4) gene. [provided by RefSeq, Nov 2010]
SLX4	chr16	3581181	3611598	-	ENSG00000188827.10	protein_coding	BTBD12|FANCP|MUS312	16p13.3	SLX4 structure-specific endonuclease subunit	This gene encodes a protein that functions as an assembly component of multiple structure-specific endonucleases. These endonuclease complexes are required for repair of specific types of DNA lesions and critical for cellular responses to replication fork failure. Mutations in this gene were found in patients with Fanconi anemia. [provided by RefSeq, Sep 2016]
SLX4IP	chr20	10435303	10636829	+	ENSG00000149346.14	protein_coding	C20orf94|bA204H22.1|bA254M13.1|dJ1099D15.3	20p12.2	SLX4 interacting protein	Ubiquitous expression in skin (RPKM 1.0), testis (RPKM 0.9) and 25 other tissues
SLX9	chr21	 44939697	44976973	+	ENSG00000160256	protein-coding	C21orf70|FAM207A|PRED56	21q22.3	SLX9 ribosome biogenesis factor	-
SMAD1	chr4	145481194	145558079	+	ENSG00000170365.9	protein_coding	BSP-1|BSP1|JV4-1|JV41|MADH1|MADR1	4q31.21	SMAD family member 1	The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene mothers against decapentaplegic (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
SMAD2	chr18	47808957	47931146	-	ENSG00000175387.15	protein_coding	JV18|JV18-1|MADH2|MADR2|hMAD-2|hSMAD2	18q21.1	SMAD family member 2	The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene mothers against decapentaplegic (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]
SMAD3	chr15	67063763	67195195	+	ENSG00000166949.15	protein_coding	HSPC193|HsT17436|JV15-2|LDS1C|LDS3|MADH3	15q22.33	SMAD family member 3	The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene mothers against decapentaplegic (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming growth factor-beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and cell proliferation. It also functions as a tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3. [provided by RefSeq, Nov 2019]
SMAD4	chr18	51028394	51085045	+	ENSG00000141646.13	protein_coding	DPC4|JIP|MADH4|MYHRS	18q21.2	SMAD family member 4	This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor (TGF)-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The protein acts as a tumor suppressor and inhibits epithelial cell proliferation. It may also have an inhibitory effect on tumors by reducing angiogenesis and increasng blood vessel hyperpermeability. The encoded protein is a crucial component of the bone morphogenetic protein signaling pathway. The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, Aug 2017]
SMAD5	chr5	136132845	136188747	+	ENSG00000113658.16	protein_coding	DWFC|JV5-1|MADH5	5q31.1	SMAD family member 5	The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
SMAD6	chr15	66702228	66782848	+	ENSG00000137834.14	protein_coding	AOVD2|HsT17432|MADH6|MADH7	15q22.31	SMAD family member 6	The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila mothers against decapentaplegic (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014]
SMAD7	chr18	48919853	48950711	-	ENSG00000101665.8	protein_coding	CRCS3|MADH7|MADH8	18q21.1	SMAD family member 7	The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
SMAD9	chr13	36844831	36920765	-	ENSG00000120693.13	protein_coding	MADH6|MADH9|PPH2|SMAD8|SMAD8/9|SMAD8A|SMAD8B	13q13.3	SMAD family member 9	The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
SMAD9-IT1	chr13	36849366	36850046	-	ENSG00000236711.2	sense_intronic	SMAD9-AS1	13q13.3	SMAD9 intronic transcript 1	-
SMAGP	chr12	51244558	51270890	-	ENSG00000170545.16	protein_coding	hSMAGP	12q13.13	small cell adhesion glycoprotein	Broad expression in placenta (RPKM 50.1), esophagus (RPKM 27.8) and 16 other tissues
SMAP1	chr6	70667776	70862015	+	ENSG00000112305.14	protein_coding	SMAP-1	6q13	small ArfGAP 1	The protein encoded by this gene is similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human gene product is also a type II membrane glycoprotein involved in the erythropoietic stimulatory activity of stromal cells. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
SMAP2	chr1	40344850	40423326	+	ENSG00000084070.11	protein_coding	SMAP1L	1p34.2	small ArfGAP2	Broad expression in lymph node (RPKM 80.3), spleen (RPKM 58.9) and 23 other tissues
SMARCA2	chr9	1980290	2193624	+	ENSG00000080503.22	protein_coding	BAF190|BIS|BRM|NCBRS|SNF2|SNF2L2|SNF2LA|SWI2|Sth1p|hBRM|hSNF2a	9p24.3	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq, Jan 2014]
SMARCA4	chr19	10961001	11065395	+	ENSG00000127616.17	protein_coding	BAF190|BAF190A|BRG1|CSS4|MRD16|RTPS2|SNF2|SNF2-beta|SNF2L4|SNF2LB|SWI2|hSNF2b	19p13.2	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
SMARCA5	chr4	143513463	143557486	+	ENSG00000153147.5	protein_coding	ISWI|SNF2H|WCRF135|hISWI|hSNF2H	4q31.21	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008]
SMARCAD1	chr4	94207611	94291292	+	ENSG00000163104.17	protein_coding	ADERM|BASNS|ETL1|HEL1|HRZ	4q22.3	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
SMARCAL1	chr2	216412414	216483053	+	ENSG00000138375.12	protein_coding	HARP|HHARP	2q35	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1	The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]
SMARCB1	chr22	23786963	23834516	+	ENSG00000099956.18	protein_coding	BAF47|CSS3|INI1|MRD15|PPP1R144|RDT|RTPS1|SNF5|SNF5L1|SWNTS1|Sfh1p|Snr1|hSNFS	22q11.23|22q11	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
SMARCC1	chr3	47585272	47782106	-	ENSG00000173473.10	protein_coding	BAF155|CRACC1|Rsc8|SRG3|SWI3	3p21.31	SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1	The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq, Jul 2008]
SMARCC2	chr12	56162983	56189567	-	ENSG00000139613.11	protein_coding	BAF170|CRACC2|CSS8|Rsc8	12q13.2	SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2	The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
SMARCD1	chr12	50084972	50100712	+	ENSG00000066117.14	protein_coding	BAF60A|CRACD1|CSS11|Rsc6p	12q13.12	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
SMARCD2	chr17	63832081	63843065	-	ENSG00000108604.15	protein_coding	BAF60B|CRACD2|PRO2451|Rsc6p|SGD2	17q23.3	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
SMARCD3	chr7	151238764	151277896	-	ENSG00000082014.16	protein_coding	BAF60C|CRACD3|Rsc6p	7q36.1	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
SMARCE1	chr17	40624962	40648508	-	ENSG00000073584.18	protein_coding	BAF57|CSS5	17q21.2	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008]
SMC1B	chr22	45344063	45413619	-	ENSG00000077935.16	protein_coding	SMC1BETA|SMC1L2	22q13.31	structural maintenance of chromosomes 1B	SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008]
SMC2	chr9	104094260	104141417	+	ENSG00000136824.18	protein_coding	CAP-E|CAPE|SMC-2|SMC2L1	9q31.1	structural maintenance of chromosomes 2	Ubiquitous expression in lymph node (RPKM 6.5), testis (RPKM 6.0) and 24 other tissues
SMC2-DT	chr9	 104080024	104092474	-	ENSG00000270332	ncRNA	SMC2-AS1	9q31.1	SMC2 divergent transcript	-
SMC3	chr10	110567691	110604636	+	ENSG00000108055.9	protein_coding	BAM|BMH|CDLS3|CSPG6|HCAP|SMC3L1	10q25.2	structural maintenance of chromosomes 3	This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]
SMC4	chr3	160399274	160434962	+	ENSG00000113810.15	protein_coding	CAP-C|CAPC|SMC-4|SMC4L1	3q25.33	structural maintenance of chromosomes 4	This gene belongs to the structural maintenance of chromosomes (SMC) gene family. Members of this gene family play a role in two changes in chromosome structure during mitotic segregation of chromosomes- chromosome condensation and sister chromatid cohesion. The protein encoded by this gene is likely a subunit of the 13S condensin complex, which is involved in chromosome condensation. A pseudogene related to this gene is located on chromosome 2. [provided by RefSeq, Jun 2016]
SMC5	chr9	70258962	70354888	+	ENSG00000198887.8	protein_coding	SMC5L1	9q21.12	structural maintenance of chromosomes 5	Ubiquitous expression in ovary (RPKM 12.4), lymph node (RPKM 10.1) and 25 other tissues
SMC6	chr2	17663812	17800242	-	ENSG00000163029.15	protein_coding	SMC-6|SMC6L1|hSMC6	2p24.2	structural maintenance of chromosomes 6	Broad expression in testis (RPKM 13.9), lymph node (RPKM 7.0) and 24 other tissues
SMCHD1	chr18	2655738	2805017	+	ENSG00000101596.14	protein_coding	BAMS|FSHD2	18p11.32	structural maintenance of chromosomes flexible hinge domain containing 1	This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]
SMCO2	chr12	27466810	27502185	+	ENSG00000165935.9	protein_coding	C12orf70	12p11.23	single-pass membrane protein with coiled-coil domains 2	Low expression observed in reference dataset
SMCO3	chr12	14804650	14814182	-	ENSG00000179256.2	protein_coding	C12orf69	12p12.3	single-pass membrane protein with coiled-coil domains 3	Low expression observed in reference dataset
SMCO4	chr11	93478472	93543508	-	ENSG00000166002.6	protein_coding	C11orf75|FN5	11q21	single-pass membrane protein with coiled-coil domains 4	Ubiquitous expression in salivary gland (RPKM 8.9), prostate (RPKM 7.3) and 25 other tissues
SMCP	chr1	152878317	152885047	+	ENSG00000163206.5	protein_coding	HSMCSGEN1|MCS|MCSP	1q21.3	sperm mitochondria associated cysteine rich protein	Sperm mitochondria differ in morphology and subcellular localization from those of somatic cells. They are elongated, flattened, and arranged circumferentially to form a helical coiled sheath in the midpiece of the sperm flagellum. The protein encoded by this gene localizes to the capsule associated with the mitochondrial outer membranes and is thought to function in the organization and stabilization of the helical structure of the sperms mitochondrial sheath. [provided by RefSeq, Jul 2008]
SMCR2	chr17	17674026	17677688	-	ENSG00000223979.2	lincRNA	TCONS_00025215	17p11.2	Smith-Magenis syndrome chromosome region, candidate 2	Low expression observed in reference dataset
SMCR5	chr17	17776686	17779529	-	ENSG00000226746.2	antisense	NCRNA00034	-	Smith-Magenis syndrome chromosome region, candidate 5	-
SMCR8	chr17	18315310	18328055	+	ENSG00000176994.10	protein_coding	DENND8A	17p11.2	SMCR8-C9orf72 complex subunit	Ubiquitous expression in bone marrow (RPKM 10.7), spleen (RPKM 8.2) and 25 other tissues
SMDT1	chr22	42079691	42084284	+	ENSG00000183172.8	protein_coding	C22orf32|DDDD|EMRE	22q13.2	single-pass membrane protein with aspartate rich tail 1	This gene encodes a core regulatory component of a calcium channel in the mitochondrial inner membrane. [provided by RefSeq, Apr 2017]
SMG1	chr16	18804853	18926454	-	ENSG00000157106.16	protein_coding	61E3.4|ATX|LIP	16p12.3	SMG1 nonsense mediated mRNA decay associated PI3K related kinase	This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]
SMG1P2	chr16	29527568	29594966	-	ENSG00000205534.6	unprocessed_pseudogene	-	16p11.2	SMG1 pseudogene 2	-
SMG1P5	chr16	30267553	30335374	-	ENSG00000183604.14	transcribed_unprocessed_pseudogene	-	16p11.2	SMG1 pseudogene 5	-
SMG1P6	chr16	29425800	29447026	-	ENSG00000254634.4	unprocessed_pseudogene	-	16p11.2	SMG1 pseudogene 6	-
SMG1P7	chr16	70219574	70246610	-	ENSG00000261556.9	transcribed_unprocessed_pseudogene	-	16q22.1	SMG1 pseudogene 7	-
SMG5	chr1	156249224	156282825	-	ENSG00000198952.8	protein_coding	EST1B|LPTS-RP1|LPTSRP1|SMG-5	1q22	SMG5 nonsense mediated mRNA decay factor	SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008]
SMG6	chr17	2059839	2303771	-	ENSG00000070366.13	protein_coding	C17orf31|EST1A|SMG-6|hSMG5/7a	17p13.3	SMG6 nonsense mediated mRNA decay factor	This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014]
SMG6-IT1	chr17	2235713	2236086	-	ENSG00000278941.1	TEC	C17orf6	17p13.3	SMG6 intronic transcript 1	-
SMG7	chr1	183472216	183598246	+	ENSG00000116698.21	protein_coding	C1orf16|EST1C|SGA56M	1q25.3	SMG7 nonsense mediated mRNA decay factor	This gene encodes a protein that is essential for nonsense-mediated mRNA decay (NMD); a process whereby transcripts with premature termination codons are targeted for rapid degradation by a mRNA decay complex. The mRNA decay complex consists, in part, of this protein along with proteins SMG5 and UPF1. The N-terminal domain of this protein is thought to mediate its association with SMG5 or UPF1 while the C-terminal domain interacts with the mRNA decay complex. This protein may therefore couple changes in UPF1 phosphorylation state to the degradation of NMD-candidate transcripts. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]
SMG7-AS1	chr1	183460874	183472265	-	ENSG00000232860.7	processed_transcript	DKFZP564C196	1q25.3	SMG7 antisense RNA 1	Biased expression in testis (RPKM 3.8), endometrium (RPKM 0.4) and 8 other tissues
SMG8	chr17	59209400	59215247	+	ENSG00000167447.12	protein_coding	ALKUS|C17orf71	17q22	SMG8 nonsense mediated mRNA decay factor	Ubiquitous expression in ovary (RPKM 5.9), testis (RPKM 5.7) and 25 other tissues
SMG9	chr19	43727992	43754990	-	ENSG00000105771.13	protein_coding	C19orf61|F17127_1|HBMS	19q13.31	SMG9 nonsense mediated mRNA decay factor	This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features. [provided by RefSeq, Jul 2016]
SMIM1	chr1	3772788	3775982	+	ENSG00000235169.7	protein_coding	Vel	1p36.32	small integral membrane protein 1 (Vel blood group)	This gene encodes a small, conserved protein that participates in red blood cell formation. The encoded protein is localized to the cell membrane and is the antigen for the Vel blood group. Alternative splicing results in different transcript variants that encode the same protein. [provided by RefSeq, Dec 2013]
SMIM11	chr21	 34375507	34389151	+	ENSG00000205670	protein-coding	C21orf51|FAM165B|SMIM11A|SMIM11B	21q22.11	small integral membrane protein 11	-
SMIM12	chr1	34712737	34859816	-	ENSG00000163866.8	protein_coding	C1orf212	1p34.3	small integral membrane protein 12	Ubiquitous expression in adrenal (RPKM 3.5), kidney (RPKM 3.1) and 25 other tissues
SMIM14	chr4	39546330	39639090	-	ENSG00000163683.11	protein_coding	C4orf34	4p14	small integral membrane protein 14	Ubiquitous expression in liver (RPKM 32.9), colon (RPKM 23.2) and 24 other tissues
SMIM15	chr5	61157709	61162474	-	ENSG00000188725.7	protein_coding	C5orf43	5q12.1	small integral membrane protein 15	Ubiquitous expression in colon (RPKM 23.0), thyroid (RPKM 19.2) and 25 other tissues
SMIM15-AS1	chr5	61162070	61232040	+	ENSG00000251279.1	antisense	CTC-436P18.1	5q12.1	SMIM15 antisense RNA 1	-
SMIM17	chr19	56643145	56655766	+	ENSG00000268182.5	protein_coding	-	19q13.43	small integral membrane protein 17	-
SMIM18	chr8	30638600	30646064	+	ENSG00000253457.2	protein_coding	-	8p12	small integral membrane protein 18	-
SMIM19	chr8	42541155	42555193	+	ENSG00000176209.11	protein_coding	C8orf40	8p11.21	small integral membrane protein 19	Ubiquitous expression in thyroid (RPKM 18.5), kidney (RPKM 14.5) and 25 other tissues
SMIM2-AS1	chr13	44110451	44240517	+	ENSG00000227258.5	antisense	C13orf44-AS1|C3orf81-AS1	13q14.11	SMIM2 antisense RNA 1	Broad expression in testis (RPKM 2.4), kidney (RPKM 2.0) and 14 other tissues
SMIM20	chr4	25861830	25929874	+	ENSG00000250317.8	protein_coding	C4orf52|MITRAC7|PNX	4p15.2	small integral membrane protein 20	Ubiquitous expression in kidney (RPKM 18.0), duodenum (RPKM 16.8) and 25 other tissues
SMIM22	chr16	4788397	4796491	+	ENSG00000267795.5	protein_coding	CASIMO1	16p13.3	small integral membrane protein 22	Biased expression in colon (RPKM 25.1), stomach (RPKM 16.4) and 10 other tissues
SMIM23	chr5	171782432	171796126	+	ENSG00000185662.9	protein_coding	C5orf50	5q35.1	small integral membrane protein 23	Restricted expression toward testis (RPKM 3.7)
SMIM24	chr19	3473986	3480542	-	ENSG00000095932.6	protein_coding	C19orf77|HSPC323|MARDI	19p13.3	small integral membrane protein 24	Biased expression in kidney (RPKM 301.3), duodenum (RPKM 292.3) and 4 other tissues
SMIM27	chr9	 32551144	32566860	+	ENSG00000235453	protein-coding	C9orf133|TOPORS-AS1	9p21.1	small integral membrane protein 27	Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
SMIM29	chr6	 34246395	34249006	-	ENSG00000186577	protein-coding	C6orf1|LBH	6p21.31	small integral membrane protein 29	Ubiquitous expression in brain (RPKM 16.6), skin (RPKM 10.3) and 25 other tissues
SMIM3	chr5	150777946	150796734	+	ENSG00000256235.1	protein_coding	C5orf62|MST150|NID67	5q33.1	small integral membrane protein 3	Enables identical protein binding activity. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
SMIM30	chr7	 113116718	113118554	-	ENSG00000214194	protein-coding	LINC00998	7q31.1	small integral membrane protein 30	Ubiquitous expression in heart (RPKM 54.5), thyroid (RPKM 25.8) and 25 other tissues
SMIM34	chr21	 34414499	34423951	-	ENSG00000243627	protein-coding	SMIM34A	21q22.12	small integral membrane protein 34	-
SMIM4	chr3	52534013	52579237	+	ENSG00000168273.7	protein_coding	C3orf78	3p21.1	small integral membrane protein 4	Ubiquitous expression in adrenal (RPKM 18.7), fat (RPKM 10.8) and 24 other tissues
SMIM43	chr4	 121758930	121765400	-	ENSG00000164112	protein-coding	TMEM155	4q27	small integral membrane protein 43	-
SMIM45	chr22	 41946949	41958939	+	ENSG00000205704	protein-coding	BK250D10.8|LINC00634	22q13.2	small integral membrane protein 45	-
SMIM5	chr17	75633434	75641404	+	ENSG00000204323.5	protein_coding	C17orf109|PP12104	17q25.1	small integral membrane protein 5	Broad expression in stomach (RPKM 3.8), kidney (RPKM 3.7) and 19 other tissues
SMIM6	chr17	75646243	75647977	+	ENSG00000259120.2	protein_coding	C17orf110|ELN	17q25.1	small integral membrane protein 6	Biased expression in stomach (RPKM 5.0), testis (RPKM 3.1) and 8 other tissues
SMIM7	chr19	16630751	16660442	-	ENSG00000214046.8	protein_coding	C19orf42	19p13.11	small integral membrane protein 7	Ubiquitous expression in thyroid (RPKM 16.9), prostate (RPKM 16.3) and 25 other tissues
SMIM8	chr6	87322583	87399749	+	ENSG00000111850.10	protein_coding	C6orf162|dJ102H19.2	6q15	small integral membrane protein 8	Ubiquitous expression in brain (RPKM 4.3), endometrium (RPKM 3.6) and 25 other tissues
SMKR1	chr7	129502479	129512932	+	ENSG00000240204.2	protein_coding	-	7q32.1	small lysine rich protein 1	-
SMLR1	chr6	130827406	130837135	+	ENSG00000256162.2	protein_coding	-	6q23.1	small leucine rich protein 1	-
SMN2	chr5	70049612	70078522	+	ENSG00000205571.13	protein_coding	BCD541|C-BCD541|GEMIN1|SMNC|TDRD16B	5q13.2	survival of motor neuron 2, centromeric	This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The full length protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Four transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008]
SMNDC1	chr10	110290730	110304951	-	ENSG00000119953.12	protein_coding	SMNR|SPF30|TDRD16C	10q25.2	survival motor neuron domain containing 1	This gene is a paralog of SMN1 gene, which encodes the survival motor neuron protein, mutations in which are cause of autosomal recessive proximal spinal muscular atrophy. The protein encoded by this gene is a nuclear protein that has been identified as a constituent of the spliceosome complex. This gene is differentially expressed, with abundant levels in skeletal muscle, and may share similar cellular function as the SMN1 gene. [provided by RefSeq, Jul 2008]
SMO	chr7	129188872	129213545	+	ENSG00000128602.9	protein_coding	CRJS|FZD11|Gx|PHLS|SMOH	7q32.1	smoothened, frizzled class receptor	The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein complex. [provided by RefSeq, Jul 2010]
SMOC1	chr14	69854131	70032366	+	ENSG00000198732.10	protein_coding	OAS	14q24.2	SPARC related modular calcium binding 1	This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
SMOC2	chr6	168441151	168673445	+	ENSG00000112562.18	protein_coding	DTDP1|MST117|MSTP117|MSTP140|SMAP2|bA270C4A.1|bA37D8.1|dJ421D16.1	6q27	SPARC related modular calcium binding 2	This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
SMOX	chr20	4120980	4187747	+	ENSG00000088826.17	protein_coding	C20orf16|PAO|PAO-1|PAO1|PAOH|PAOH1|SMO	20p13	spermine oxidase	Polyamines are ubiquitous polycationic alkylamines which include spermine, spermidine, putrescine, and agmatine. These molecules participate in a broad range of cellular functions which include cell cycle modulation, scavenging reactive oxygen species, and the control of gene expression. These molecules also play important roles in neurotransmission through their regulation of cell-surface receptor activity, involvement in intracellular signalling pathways, and their putative roles as neurotransmitters. This gene encodes an FAD-containing enzyme that catalyzes the oxidation of spermine to spermadine and secondarily produces hydrogen peroxide. Multiple transcript variants encoding different isoenzymes have been identified for this gene, some of which have failed to demonstrate significant oxidase activity on natural polyamine substrates. The characterized isoenzymes have distinctive biochemical characteristics and substrate specificities, suggesting the existence of additional levels of complexity in polyamine catabolism. [provided by RefSeq, Jul 2012]
SMPD2	chr6	109440763	109443919	+	ENSG00000135587.8	protein_coding	ISC1|NSMASE|NSMASE1	6q21	sphingomyelin phosphodiesterase 2	This gene encodes a protein which was initially identified as a sphingomyelinase based on sequence similarity between bacterial sphingomyelinases and a yeast protein. Subsequent studies showed that its biological function is less likely to be as a sphingomyelinase and instead as a lysophospholipase. [provided by RefSeq, Oct 2009]
SMPD3	chr16	68358325	68448688	-	ENSG00000103056.11	protein_coding	NSMASE2	16q22.1	sphingomyelin phosphodiesterase 3	Biased expression in duodenum (RPKM 22.0), small intestine (RPKM 21.4) and 11 other tissues
SMPD5	chr8	144049079	144051522	+	ENSG00000204791.9	transcribed_unitary_pseudogene	MA-nSMase	8q24.3	sphingomyelin phosphodiesterase 5 (pseudogene)	-
SMPDL3A	chr6	122789049	122809720	+	ENSG00000172594.12	protein_coding	ASM3A|ASML3a|yR36GH4.1	6q22.31	sphingomyelin phosphodiesterase acid like 3A	Ubiquitous expression in colon (RPKM 18.5), small intestine (RPKM 18.4) and 25 other tissues
SMPDL3B	chr1	27934993	27959157	+	ENSG00000130768.14	protein_coding	ASML3B	1p35.3	sphingomyelin phosphodiesterase acid like 3B	Enables phosphoric diester hydrolase activity. Predicted to be involved in membrane lipid catabolic process; negative regulation of inflammatory response; and negative regulation of toll-like receptor signaling pathway. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
SMTN	chr22	31064105	31104757	+	ENSG00000183963.18	protein_coding	-	22q12.2	smoothelin	Broad expression in prostate (RPKM 39.0), endometrium (RPKM 30.0) and 20 other tissues
SMTNL1	chr11	57542641	57550274	+	ENSG00000214872.8	protein_coding	CHASM	11q12.1	smoothelin like 1	The protein encoded by this gene is involved in the contraction of both striated and smooth muscle. During pregnancy, the encoded protein interacts with progesterone receptor to attenuate the expression of contractile and metabolic proteins. [provided by RefSeq, Jul 2016]
SMUG1	chr12	54121277	54189008	-	ENSG00000123415.15	protein_coding	FDG|HMUDG|UNG3	12q13.13	single-strand-selective monofunctional uracil-DNA glycosylase 1	This gene encodes a protein that participates in base excision repair by removing uracil from single- and double-stranded DNA. Many alternatively spliced transcript variants exist for this gene; the full-length nature is known for some but not all of the variants. [provided by RefSeq, Aug 2011]
SMUG1P1	chr18	49650350	49651160	+	ENSG00000267444.1	processed_pseudogene	-	18q21.1	single-strand-selective monofunctional uracil-DNA glycosylase 1 pseudogene 1	-
SMURF1	chr7	99027438	99144100	-	ENSG00000198742.9	protein_coding	-	7q22.1	SMAD specific E3 ubiquitin protein ligase 1	Ubiquitous expression in testis (RPKM 21.9), stomach (RPKM 11.7) and 25 other tissues
SMURF2	chr17	64542295	64662068	-	ENSG00000108854.15	protein_coding	-	17q23.3-q24.1	SMAD specific E3 ubiquitin protein ligase 2	-
SMURF2P1	chr17	30600796	30615980	+	ENSG00000248121.8	transcribed_unprocessed_pseudogene	-	17q11.2	SMAD specific E3 ubiquitin protein ligase 2 pseudogene 1	-
SMYD1	chr2	88067780	88113387	+	ENSG00000115593.14	protein_coding	BOP|KMT3D|ZMYND18|ZMYND22	2p11.2	SET and MYND domain containing 1	Restricted expression toward heart (RPKM 63.9)
SMYD4	chr17	1779485	1830634	-	ENSG00000186532.11	protein_coding	ZMYND21	17p13.3	SET and MYND domain containing 4	Ubiquitous expression in ovary (RPKM 3.5), fat (RPKM 3.2) and 25 other tissues
SMYD5	chr2	73214222	73227237	+	ENSG00000135632.11	protein_coding	NN8-4AG|RAI15|RRG1|ZMYND23	2p13.2	SMYD family member 5	Ubiquitous expression in ovary (RPKM 8.4), testis (RPKM 6.1) and 25 other tissues
SNAI1	chr20	49982999	49988886	+	ENSG00000124216.3	protein_coding	SLUGH2|SNA|SNAH|SNAIL|SNAIL1|dJ710H13.1	20q13.13	snail family transcriptional repressor 1	The Drosophila embryonic protein snail is a zinc finger transcriptional repressor which downregulates the expression of ectodermal genes within the mesoderm. The nuclear protein encoded by this gene is structurally similar to the Drosophila snail protein, and is also thought to be critical for mesoderm formation in the developing embryo. At least two variants of a similar processed pseudogene have been found on chromosome 2. [provided by RefSeq, Jul 2008]
SNAI1P1	chr2	209808804	209809580	+	ENSG00000237194.1	processed_pseudogene	SNAI1L|SNAI1L1|SNAI1P	2q34	snail family zinc finger 1 pseudogene 1	-
SNAI2	chr8	48917768	48921740	-	ENSG00000019549.9	protein_coding	SLUG|SLUGH|SLUGH1|SNAIL2|WS2D	8q11.21	snail family transcriptional repressor 2	This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporatic cases of neural tube defects. [provided by RefSeq, Jul 2008]
SNAI3	chr16	88677682	88686493	-	ENSG00000185669.5	protein_coding	SMUC|SNAIL3|ZNF293|Zfp293	16q24.2	snail family transcriptional repressor 3	SNAI3 is a member of the SNAIL gene family, named for the Drosophila snail gene, which plays roles in mesodermal formation during embryogenesis (Katoh and Katoh, 2003 [PubMed 12579345]).[supplied by OMIM, Apr 2009]
SNAI3-AS1	chr16	88663298	88687186	+	ENSG00000260630.6	antisense	-	16q24.2	SNAI3 antisense RNA 1	-
SNAP23	chr15	42491233	42545356	+	ENSG00000092531.9	protein_coding	HsT17016|SNAP-23|SNAP23A|SNAP23B	15q15.1-q15.2	synaptosome associated protein 23	Specificity of vesicular transport is regulated, in part, by the interaction of a vesicle-associated membrane protein termed synaptobrevin/VAMP with a target compartment membrane protein termed syntaxin. These proteins, together with SNAP25 (synaptosome-associated protein of 25 kDa), form a complex which serves as a binding site for the general membrane fusion machinery. Synaptobrevin/VAMP and syntaxin are believed to be involved in vesicular transport in most, if not all cells, while SNAP25 is present almost exclusively in the brain, suggesting that a ubiquitously expressed homolog of SNAP25 exists to facilitate transport vesicle/target membrane fusion in other tissues. The protein encoded by this gene is structurally and functionally similar to SNAP25 and binds tightly to multiple syntaxins and synaptobrevins/VAMPs. It is an essential component of the high affinity receptor for the general membrane fusion machinery and is an important regulator of transport vesicle docking and fusion. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
SNAP25	chr20	10218830	10307418	+	ENSG00000132639.12	protein_coding	CMS18|RIC-4|RIC4|SEC9|SNAP|SNAP-25|SUP|bA416N4.2|dJ1068F16.2	20p12.2	synaptosome associated protein 25	Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
SNAP29	chr22	20858983	20891218	+	ENSG00000099940.11	protein_coding	CEDNIK|SNAP-29	22q11.21	synaptosome associated protein 29	This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane docking and fusion to the plasma membrane. The protein encoded by this gene binds tightly to multiple syntaxins and is localized to intracellular membrane structures rather than to the plasma membrane. While the protein is mostly membrane-bound, a significant fraction of it is found free in the cytoplasm. Use of multiple polyadenylation sites has been noted for this gene. [provided by RefSeq, Jul 2008]
SNAP47	chr1	227728539	227781231	+	ENSG00000143740.14	protein_coding	C1orf142|ESFI5812|HEL-S-290|HEL170|SNAP-47|SVAP1	1q42.13	synaptosome associated protein 47	Ubiquitous expression in testis (RPKM 8.2), ovary (RPKM 7.5) and 25 other tissues
SNAP47-AS1	chr1	227743831	227747191	-	ENSG00000230005.2	antisense	SNAP47-IT1	1q42.13	SNAP47 antisense RNA 1	-
SNAP91	chr6	83552880	83709691	-	ENSG00000065609.14	protein_coding	AP180|CALM	6q14.2	synaptosome associated protein 91	Biased expression in brain (RPKM 42.7), testis (RPKM 6.2) and 1 other tissue
SNAPC2	chr19	7920316	7923250	+	ENSG00000104976.11	protein_coding	PTFDELTA|SNAP45	19p13.2	small nuclear RNA activating complex polypeptide 2	This gene encodes a subunit of the snRNA-activating protein complex which is associated with the TATA box-binding protein. The encoded protein is necessary for RNA polymerase II and III dependent small-nuclear RNA gene transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
SNAPC3	chr9	15422704	15465953	+	ENSG00000164975.15	protein_coding	PTFbeta|SNAP50	9p22.3	small nuclear RNA activating complex polypeptide 3	Broad expression in testis (RPKM 18.8), brain (RPKM 8.0) and 24 other tissues
SNAPC4	chr9	136375577	136400168	-	ENSG00000165684.4	protein_coding	PTFalpha|SNAP190	9q34.3	small nuclear RNA activating complex polypeptide 4	This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promoters. A mutation in this gene is associated with ankylosing spondylitis. [provided by RefSeq, Jul 2016]
SNAPC5	chr15	66490135	66497813	-	ENSG00000174446.12	protein_coding	SNAP19	15q22.31	small nuclear RNA activating complex polypeptide 5	This gene encodes a subunit of the small nuclear RNA (snRNA)-activating protein complex that plays a role in the transcription of snRNA genes. This complex binds to the promoters of snRNA genes transcribed by either RNA polymerase II or III and recruits other regulatory factors to activate snRNA gene transcription. The encoded protein may play a role in stabilizing this complex. A pseudogene of this gene has been identified on chromosome 6. [provided by RefSeq, Jul 2016]
SNAPIN	chr1	153658654	153661830	+	ENSG00000143553.10	protein_coding	BLOC1S7|BLOS7|BORCS3|SNAPAP	1q21.3	SNAP associated protein	The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1 (biogenesis of lysosome-related organelles) complex. Biochemical studies have identified additional binding partners. As part of the SNARE complex, it is required for vesicle docking and fusion and regulates neurotransmitter release. The BLOC-1 complex is required for the biogenesis of specialized organelles such as melanosomes and platelet dense granules. Mutations in gene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
SNCA	chr4	89724099	89838315	-	ENSG00000145335.15	protein_coding	NACP|PARK1|PARK4|PD1	4q22.1	synuclein alpha	Alpha-synuclein is a member of the synuclein family, which also includes beta- and gamma-synuclein. Synucleins are abundantly expressed in the brain and alpha- and beta-synuclein inhibit phospholipase D2 selectively. SNCA may serve to integrate presynaptic signaling and membrane trafficking. Defects in SNCA have been implicated in the pathogenesis of Parkinson disease. SNCA peptides are a major component of amyloid plaques in the brains of patients with Alzheimers disease. Alternatively spliced transcripts encoding different isoforms have been identified for this gene. [provided by RefSeq, Feb 2016]
SNCA-AS1	chr4	89836408	89841978	+	ENSG00000247775.2	antisense	-	4q22.1	SNCA antisense RNA 1	-
SNCB	chr5	176620084	176630556	-	ENSG00000074317.10	protein_coding	-	5q35.2	synuclein beta	Restricted expression toward brain (RPKM 60.7)
SND1	chr7	127652180	128092609	+	ENSG00000197157.10	protein_coding	TDRD11|Tudor-SN|p100	7q32.1	staphylococcal nuclease and tudor domain containing 1	This gene encodes a transcriptional co-activator that interacts with the acidic domain of Epstein-Barr virus nuclear antigen 2 (EBNA 2), a transcriptional activator that is required for B-lymphocyte transformation. Other transcription factors that interact with this protein are signal transducers and activators of transcription, STATs. This protein is also thought to be essential for normal cell growth. A similar protein in mammals and other organisms is a component of the RNA-induced silencing complex (RISC). [provided by RefSeq, Jul 2016]
SND1-IT1	chr7	127997597	128000077	+	ENSG00000279078.1	lincRNA	C7orf54|NAG8|NSG-X	7q32.1	SND1 intronic transcript 1	-
SNED1	chr2	240998838	241095568	+	ENSG00000162804.13	protein_coding	IRE-BP1|SST3|Snep	2q37.3	sushi, nidogen and EGF like domains 1	Ubiquitous expression in ovary (RPKM 13.4), gall bladder (RPKM 12.9) and 24 other tissues
SNF8	chr17	48929316	48945117	-	ENSG00000159210.9	protein_coding	Dot3|EAP30|VPS22	17q21.32	SNF8 subunit of ESCRT-II	The protein encoded by this gene is a component of the endosomal sorting complex required for transport II (ESCRT-II), which regulates the movement of ubiquitinylated transmembrane proteins to the lysosome for degradation. This complex also interacts with the RNA polymerase II elongation factor (ELL) to overcome the repressive effects of ELL on RNA polymerase II activity. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
SNHG12	chr1	28578538	28582983	-	ENSG00000197989.13	antisense	ASLNC04080|C1orf79|LINC00100|NCRNA00100|PNAS-123	1p35.3	small nucleolar RNA host gene 12	This gene produces a long RNA that is overexpressed in tumor cells. This RNA may promote tumorigenesis by acting as a sponge for microRNAs. [provided by RefSeq, Dec 2017]
SNHG15	chr7	44983023	44986961	-	ENSG00000232956.8	lincRNA	C7orf40|Linc-Myo1g|MYO1GUT	7p13	small nucleolar RNA host gene 15	This gene represents a snoRNA host gene that produces a short-lived long non-coding RNA. This non-coding RNA is upregulated in tumor cells and may contribute to cell proliferation by acting as a sponge for microRNAs. [provided by RefSeq, Dec 2017]
SNHG16	chr17	76557766	76565348	+	ENSG00000163597.14	processed_transcript	Nbla10727|Nbla12061|ncRAN	17q25.1	small nucleolar RNA host gene 16	Ubiquitous expression in ovary (RPKM 13.9), skin (RPKM 12.2) and 25 other tissues
SNHG19	chr16	2154797	2155358	-	ENSG00000260260.1	lincRNA	SNORD60HG	16p13.3	small nucleolar RNA host gene 19	Ubiquitous expression in kidney (RPKM 18.2), prostate (RPKM 15.6) and 23 other tissues
SNHG20	chr17	77086716	77094990	+	ENSG00000234912.11	processed_transcript	C17orf86|LINC00338|NCRNA00338|SCARNA16HG	17q25.2	small nucleolar RNA host gene 20	Ubiquitous expression in thyroid (RPKM 3.2), spleen (RPKM 2.9) and 25 other tissues
SNHG22	chr18	49814023	49851059	+	ENSG00000267322.2	antisense	SCARNA17|SCARNA17HG	18q21.1	small nucleolar RNA host gene 22	Broad expression in duodenum (RPKM 5.0), small intestine (RPKM 3.2) and 17 other tissues
SNHG25	chr17	64145970	64146476	+	ENSG00000266402.3	lincRNA	-	17q23.3	small nucleolar RNA host gene 25	-
SNHG29	chr17	 16438987	16470648	+	ENSG00000175061	ncRNA	C17orf45|C17orf76-AS1|FAM211A-AS1|LRRC75A-AS1|NCRNA00188|TSAP19	17p11.2	small nucleolar RNA host gene 29	Ubiquitous expression in bone marrow (RPKM 110.6), thyroid (RPKM 105.4) and 25 other tissues
SNHG30	chr17	 35568114	35574313	+	-	ncRNA	LINC02001	17q12	small nucleolar RNA host gene 30	Ubiquitous expression in thyroid (RPKM 6.1), brain (RPKM 5.4) and 25 other tissues
SNHG32	chr6	 31834916	31839761	+	ENSG00000204387	ncRNA	C6orf48|D6S57|G8	6p21.33	small nucleolar RNA host gene 32	Ubiquitous expression in ovary (RPKM 167.3), thyroid (RPKM 84.5) and 24 other tissues
SNHG5	chr6	85660950	85678736	-	ENSG00000203875.10	processed_transcript	C6orf160|LINC00044|NCRNA00044|U50HG	6q14.3	small nucleolar RNA host gene 5	This gene represent a snoRNA host gene and produces a long non-coding RNA. This RNA may regulate gene expression by acting as a sponge for microRNAs. This transcript may also stabilize mRNAs by blocking degradation by staufen double-stranded RNA binding protein 1. [provided by RefSeq, Dec 2017]
SNHG6	chr8	66921684	66926398	-	ENSG00000245910.8	processed_transcript	HBII-276HG|NCRNA00058|U87HG	8q13.1|8q13	small nucleolar RNA host gene 6	Ubiquitous expression in ovary (RPKM 124.4), bone marrow (RPKM 84.3) and 25 other tissues
SNHG7	chr9	136721366	136728184	-	ENSG00000233016.6	antisense	NCRNA00061	9q34.3	small nucleolar RNA host gene 7	Ubiquitous expression in ovary (RPKM 15.1), thyroid (RPKM 12.1) and 25 other tissues
SNHG8	chr4	118278709	118279823	+	ENSG00000269893.6	lincRNA	LINC00060|NCRNA00060	4q26	small nucleolar RNA host gene 8	Ubiquitous expression in ovary (RPKM 73.3), prostate (RPKM 50.6) and 25 other tissues
SNIP1	chr1	37534449	37554344	-	ENSG00000163877.10	protein_coding	PML1|PMRED	1p34.3	Smad nuclear interacting protein 1	This gene encodes a protein that contains a coiled-coil motif and C-terminal forkhead-associated (FHA) domain. The encoded protein functions as a transcriptional coactivator that increases c-Myc activity and inhibits transforming growth factor beta (TGF-beta) and nuclear factor kappa-B (NF-kB) signaling. The encoded protein also regulates the stability of cyclin D1 mRNA, and may play a role in cell proliferation and cancer progression. Mutations in this gene are a cause of psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED). [provided by RefSeq, Mar 2012]
SNN	chr16	11668414	11679159	+	ENSG00000184602.5	protein_coding	-	16p13.13	stannin	Ubiquitous expression in fat (RPKM 84.3), brain (RPKM 72.2) and 23 other tissues
SNORA1	chr2	203052285	203052418	-	ENSG00000202059.1	snoRNA	ACA1	11q21	small nucleolar RNA, H/ACA box 1	-
SNORA12	chr2	55565703	55565850	+	ENSG00000212175.1	snoRNA	U108	10q24.31	small nucleolar RNA, H/ACA box 12	Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA12, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]
SNORA16	chr13	32420390	32420516	-	ENSG00000212293.1	snoRNA	-	-	-	-
SNORA16B	chr1	212352816	212352950	+	ENSG00000201544.1	snoRNA	U98b	1q32.3	small nucleolar RNA, H/ACA box 16B	-
SNORA18	chr3	177624282	177624409	-	ENSG00000200288.1	snoRNA	ACA18	11q21	small nucleolar RNA, H/ACA box 18	-
SNORA23	chr11	9428773	9428954	+	ENSG00000201998.1	snoRNA	ACA23	11p15.4	small nucleolar RNA, H/ACA box 23	-
SNORA30	chr9	20786927	20787055	+	ENSG00000202189.1	snoRNA	ACA30|SNORA30A	16p11.2	small nucleolar RNA, H/ACA box 30	-
SNORA32	chr8	119388348	119388469	+	ENSG00000206776.1	snoRNA	ACA32	11q21	small nucleolar RNA, H/ACA box 32	-
SNORA36C	chr2	69520043	69520174	-	ENSG00000207016.1	snoRNA	-	2p13.3	small nucleolar RNA, H/ACA box 36C	-
SNORA37	chr18	54222284	54222412	-	ENSG00000207233.1	snoRNA	ACA37	18q21.2	small nucleolar RNA, H/ACA box 37	-
SNORA3B	chr11	8685439	8685569	+	ENSG00000212607.1	snoRNA	ACA3-2|SNORA45|SNORA45B	11p15.4	small nucleolar RNA, H/ACA box 3B	Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA45, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]
SNORA40	chr1	117688621	117688742	-	ENSG00000212266.1	snoRNA	ACA40|SNORA40A	11q21	small nucleolar RNA, H/ACA box 40	-
SNORA41	chr2	206162228	206162359	+	ENSG00000207406.1	snoRNA	ACA41|SNORA41A	2q33.3	small nucleolar RNA, H/ACA box 41	-
SNORA48	chr2	148260574	148260708	-	ENSG00000212181.1	snoRNA	ACA48|SNORA48A	17p13.1	small nucleolar RNA, H/ACA box 48	-
SNORA49	chr12	132031224	132031359	+	ENSG00000208892.1	snoRNA	ACA49	12q24.33	small nucleolar RNA, H/ACA box 49	-
SNORA55	chr1	39567374	39567508	-	ENSG00000201457.1	snoRNA	ACA55	1p34.3	small nucleolar RNA, H/ACA box 55	-
SNORA57	chr5	40790077	40790204	-	ENSG00000212567.1	snoRNA	U99	11q12.3	small nucleolar RNA, H/ACA box 57	-
SNORA59B	chr17	19557211	19557911	+	ENSG00000266079.4	snoRNA	ACA59	17p11.2	small nucleolar RNA, H/ACA box 59B	-
SNORA5A	chr7	45104349	45104482	-	ENSG00000206838.1	snoRNA	ACA5|ACA5A/B/C	7p13	small nucleolar RNA, H/ACA box 5A	-
SNORA5B	chr7	45105968	45106099	-	ENSG00000200656.1	snoRNA	ACA5b	7p13	small nucleolar RNA, H/ACA box 5B	-
SNORA5C	chr7	45104906	45105042	-	ENSG00000201772.1	snoRNA	ACA5c	7p13	small nucleolar RNA, H/ACA box 5C	Small nucleolar RNAs (snoRNAs) are small noncoding RNAs involved in RNA processing. Box H/ACA snoRNAs, such as SNORA5C, direct the conversion of uridine to pseudouridine at specific residues of ribosomal RNAs or small nuclear RNAs (snRNAs) (Gu et al., 2005).[supplied by OMIM, Mar 2008]
SNORA61	chr1	28579764	28579893	-	ENSG00000278274.1	snoRNA	ACA61	1p35.3	small nucleolar RNA, H/ACA box 61	-
SNORA63	chr1	36418450	36418578	-	ENSG00000201448.1	snoRNA	E3|E3-2|RNE3|RNU107|SNORA63A|elF-4AII	3q27.3	small nucleolar RNA, H/ACA box 63	-
SNORA64	chr2	30187434	30187566	+	ENSG00000207187.1	snoRNA	RNU64|U64	16p13.3	small nucleolar RNA, H/ACA box 64	-
SNORA66	chr1	92840719	92840851	+	ENSG00000207523.1	snoRNA	RNU66|U66	1p22.1	small nucleolar RNA, H/ACA box 66	This gene encodes a non-coding RNA that functions in the biogenesis of other small nuclear RNAs. This RNA is found in the nucleolus, where it may be involved in the pseudouridylation of 18S ribosomal RNA. This RNA is found associated with the GAR1 protein. [provided by RefSeq, Apr 2009]
SNORA67	chr1	179196473	179196579	+	ENSG00000212338.1	snoRNA	RNU67|U67	17p13.1	small nucleolar RNA, H/ACA box 67	-
SNORA69	chr17	8329583	8329719	+	ENSG00000212206.1	snoRNA	RNU69|U69|U69A	Xq24	small nucleolar RNA, H/ACA box 69	This gene encodes a member of the family of box ACA small nucleolar RNAs, characterized by a consensus ACA motif positioned 3 nucleotides from the 3 end of the RNAs and a double-hairpin structure. The box ACA small nucleolar RNAs may play a role in rRNA maturation. This gene is co-transcribed with the ribosomal protein L39 gene. [provided by RefSeq, Oct 2009]
SNORA70F	chr2	164687643	164687777	-	ENSG00000206869.1	snoRNA	U70F	2q24.3	small nucleolar RNA, H/ACA box 70F	-
SNORA71A	chr20	38427309	38427442	-	ENSG00000225091.3	snoRNA	RNU71A|U71a	20q11.23	small nucleolar RNA, H/ACA box 71A	-
SNORA71B	chr20	38425083	38425354	-	ENSG00000235408.5	snoRNA	RNU71B|U71b	20q11.23	small nucleolar RNA, H/ACA box 71B	-
SNORA71C	chr20	38429670	38429803	-	ENSG00000201512.1	snoRNA	U71c	20q11.23	small nucleolar RNA, H/ACA box 71C	-
SNORA73A	chr1	28507366	28507571	+	ENSG00000274266.1	snoRNA	E1|E1-7|E1b|RNE1|RNU17A|U17A	1p35.3	small nucleolar RNA, H/ACA box 73A	-
SNORA80B	chr2	10446714	10446849	-	ENSG00000206633.1	snoRNA	ACA67B	2p25.1	small nucleolar RNA, H/ACA box 80B	-
SNORA80E	chr1	155919909	155920045	-	ENSG00000207475.1	snoRNA	ACA42|SNORA42	1q22	small nucleolar RNA, H/ACA box 80E	-
SNORA84	chr9	92292461	92292593	-	ENSG00000239183.1	snoRNA	-	9q22.31	small nucleolar RNA, H/ACA box 84	-
SNORC	chr2	 232866451	232878700	+	ENSG00000182600	protein-coding	ASCL830|C2orf82|UNQ830	2q37.1	secondary ossification center associated regulator of chondrocyte maturation	Low expression observed in reference dataset
SNORD10	chr17	7576811	7576952	+	ENSG00000238917.1	snoRNA	mgU6-77	17p13.1	small nucleolar RNA, C/D box 10	-
SNORD100	chr6	132816802	132816877	+	ENSG00000221500.1	snoRNA	HBII-429	6q23.2	small nucleolar RNA, C/D box 100	-
SNORD104	chr17	64146083	64146152	+	ENSG00000199753.1	snoRNA	U104	17q23.3	small nucleolar RNA, C/D box 104	-
SNORD105	chr19	10107651	10107735	+	ENSG00000209645.1	snoRNA	U105	19p13.2	small nucleolar RNA, C/D box 105	-
SNORD11B	chr2	202291332	202291421	+	ENSG00000271852.1	snoRNA	-	2q33.1	small nucleolar RNA, C/D box 11B	-
SNORD12	chr20	49280683	49280772	+	ENSG00000212304.1	snoRNA	HBII-99|MIR1259|MIRN1259	20q13.13	small nucleolar RNA, C/D box 12	-
SNORD124	chr17	40027542	40027645	-	ENSG00000238793.1	snoRNA	-	17q21.1	small nucleolar RNA, C/D box 124	-
SNORD12B	chr20	49280319	49280409	+	ENSG00000222365.1	snoRNA	-	20q13.13	small nucleolar RNA, C/D box 12B	-
SNORD12C	chr20	49278940	49279028	+	ENSG00000209042.1	snoRNA	E2|E2-1|E3|RNU106|SNORD106|U106	20q13.13	small nucleolar RNA, C/D box 12C	-
SNORD13	chr8	33513475	33513578	+	ENSG00000239039.1	snoRNA	RNU13|SNORD13A|U13	8p12	small nucleolar RNA, C/D box 13	-
SNORD14A	chr11	17074654	17074744	-	ENSG00000272034.1	snoRNA	RNU14|RNU14A|U14|U14-S13-5	11p15.1	small nucleolar RNA, C/D box 14A	-
SNORD16	chr15	66502812	66502910	-	ENSG00000199673.1	snoRNA	U16	15q22.31	small nucleolar RNA, C/D box 16	-
SNORD20	chr2	231456444	231456523	-	ENSG00000207280.1	snoRNA	RNU20|U20	2q37.1	small nucleolar RNA, C/D box 20	-
SNORD21	chr1	92837289	92837383	+	ENSG00000206680.1	snoRNA	RNU21|U21	1p22.1	small nucleolar RNA, C/D box 21	This gene encodes a small nucleolar RNA (snoRNA) that may be involved in biogenesis of the large (28S) ribosomal subunit. This gene is found within an intron of the RPL5 gene. [provided by RefSeq, Mar 2009]
SNORD23	chr18	21450653	21450756	-	ENSG00000221139.1	snoRNA	HBII-115	19q13.33	small nucleolar RNA, C/D box 23	-
SNORD33	chr16	76469508	76469595	-	ENSG00000252022.1	snoRNA	RNU33|U33	19q13.33	small nucleolar RNA, C/D box 33	-
SNORD35A	chr19	49491175	49491260	+	ENSG00000200259.1	snoRNA	RNU35|RNU35A|U35	19q13.33	small nucleolar RNA, C/D box 35A	Predicted to act upstream of or within glucose metabolic process; insulin secretion; and reactive oxygen species metabolic process. [provided by Alliance of Genome Resources, Apr 2022]
SNORD3B-1	chr17	19061912	19062669	+	ENSG00000265185.5	snoRNA	RNU3A1|U3a|U3b1|U3b2	17p11.2	small nucleolar RNA, C/D box 3B-1	-
SNORD3B-2	chr17	19063346	19064136	-	ENSG00000262074.6	snoRNA	U3-2B|U3b2	17p11.2	small nucleolar RNA, C/D box 3B-2	-
SNORD3P1	chr15	 58760466	58760681	-	ENSG00000200318	pseudogene	RNU3P1|U3	15q21.3	small nucleolar RNA, C/D box 3 pseudogene 1	-
SNORD56	chr2	153446813	153446883	-	ENSG00000200377.1	snoRNA	RNU56|U56	20p13	small nucleolar RNA, C/D box 56	-
SNORD58B	chr18	49491664	49491729	-	ENSG00000271982.1	snoRNA	RNU58B|U58b	18q21.1	small nucleolar RNA, C/D box 58B	-
SNORD68	chr16	89561434	89561517	+	ENSG00000200084.1	snoRNA	HBII-202	16q24.3	small nucleolar RNA, C/D box 68	-
SNORD71	chr16	71758402	71758487	-	ENSG00000223224.1	snoRNA	HBII-239|MIRN768|hsa-mir-768	16q22.2	small nucleolar RNA, C/D box 71	-
SNORD83	chr12	64575665	64575741	+	ENSG00000223294.1	snoRNA	-	-	-	-
SNORD83A	chr22	39315213	39315307	-	ENSG00000209482.1	snoRNA	RNU83A|U83A	22q13.1	small nucleolar RNA, C/D box 83A	Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83A, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83A, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]
SNORD83B	chr22	39313819	39313911	-	ENSG00000209480.1	snoRNA	RNU83B|U83B	22q13.1	small nucleolar RNA, C/D box 83B	Intronic regions of ribosomal protein genes can harbor noncoding small nucleolar RNAs (snoRNAs), like SNORD83B, which are generated during pre-mRNA processing. snoRNAs form part of the small nucleolar ribonucleoprotein particles (snoRNPs) involved in pre-rRNA processing and modification. snoRNAs of the box C/D class, like SNORD83B, function in 2-prime-O-ribose methylation of rRNAs (Duga et al., 2000 [PubMed 10684968]).[supplied by OMIM, Mar 2008]
SNORD91A	chr17	2330180	2330370	-	ENSG00000212163.5	snoRNA	HBII-296a	17p13.3	small nucleolar RNA, C/D box 91A	-
snoU13	chr1	26642286	26642389	-	ENSG00000238316.1	snoRNA	-	-	-	-
SNRK	chr3	43286512	43424764	+	ENSG00000163788.13	protein_coding	HSNFRK	3p22.1	SNF related kinase	SNRK is a member of the sucrose nonfermenting (SNF)-related kinase family of serine/threonine kinases (Kertesz et al., 2002 [PubMed 12234663]).[supplied by OMIM, Apr 2009]
SNRNP200	chr2	96274336	96305515	-	ENSG00000144028.14	protein_coding	ASCC3L1|BRR2|HELIC2|RP33|U5-200KD	2q11.2	small nuclear ribonucleoprotein U5 subunit 200	Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010]
SNRNP25	chr16	53010	57669	+	ENSG00000161981.10	protein_coding	C16orf33	16p13.3	small nuclear ribonucleoprotein U11/U12 subunit 25	Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 25K protein that is a component of the U12-type spliceosome. [provided by RefSeq, Apr 2010]
SNRNP27	chr2	69893560	69905575	+	ENSG00000124380.10	protein_coding	27K|RY1	2p13.3	small nuclear ribonucleoprotein U4/U6.U5 subunit 27	This gene encodes a serine/arginine-rich (SR) protein. SR proteins play important roles in pre-mRNA splicing by facilitating the recognition and selection of splice sites. The encoded protein associates with the 25S U4/U6.U5 tri-snRNP, a major component of the U2-type spiceosome. The expression of this gene may be altered in cells infected with the human T-cell lymphotropic virus type 1 (HTLV-1) retrovirus. A pseudogene of this gene is located on the long arm of chromosome 5. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
SNRNP35	chr12	123457641	123473154	+	ENSG00000184209.14	protein_coding	HM-1|U1SNRNPBP	12q24.31	small nuclear ribonucleoprotein U11/U12 subunit 35	The protein encoded by this gene is a homolog of the U1-snRNP binding protein. The N-terminal half contains a RNA recognition motif and the C-terminal half is rich in Arg/Asp and Arg/Glu dipeptides, which is a characteristic of a variety of splicing factors. This protein is a component of the U11/U12 small nuclear ribonucleoproteins (snRNP) that form part of the U12-type spliceosome. Alternative splicing results in multiple transcript variants encoding two distinct isoforms and representing a non-protein coding variant. [provided by RefSeq, Aug 2013]
SNRNP40	chr1	31259568	31296782	-	ENSG00000060688.12	protein_coding	40K|HPRP8BP|PRP8BP|PRPF8BP|SPF38|WDR57	1p35.2	small nuclear ribonucleoprotein U5 subunit 40	This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [provided by RefSeq, Jul 2008]
SNRNP48	chr6	7590199	7611967	+	ENSG00000168566.12	protein_coding	C6orf151|dJ336K20B.1|dJ512B11.2	6p24.3	small nuclear ribonucleoprotein U11/U12 subunit 48	Ubiquitous expression in endometrium (RPKM 3.8), ovary (RPKM 3.4) and 25 other tissues
SNRNP70	chr19	49085419	49108605	+	ENSG00000104852.14	protein_coding	RNPU1Z|RPU1|SNRP70|Snp1|U1-70K|U170K|U1AP|U1RNP	19q13.33	small nuclear ribonucleoprotein U1 subunit 70	Ubiquitous expression in prostate (RPKM 63.5), spleen (RPKM 63.2) and 25 other tissues
SNRPA	chr19	40750637	40765389	+	ENSG00000077312.8	protein_coding	Mud1|U1-A|U1A	19q13.2	small nuclear ribonucleoprotein polypeptide A	The protein encoded by this gene associates with stem loop II of the U1 small nuclear ribonucleoprotein, which binds the 5 splice site of precursor mRNAs and is required for splicing. The encoded protein autoregulates itself by polyadenylation inhibition of its own pre-mRNA via dimerization and has been implicated in the coupling of splicing and polyadenylation. [provided by RefSeq, Oct 2010]
SNRPA1	chr15	101281510	101295282	-	ENSG00000131876.16	protein_coding	Lea1|U2A'	15q26.3	small nuclear ribonucleoprotein polypeptide A'	Ubiquitous expression in bone marrow (RPKM 26.0), testis (RPKM 22.8) and 25 other tissues
SNRPB	chr20	2461634	2470853	-	ENSG00000125835.18	protein_coding	CCMS|COD|SNRPB1|Sm-B/B'|SmB/B'|SmB/SmB'|snRNP-B	20p13	small nuclear ribonucleoprotein polypeptides B and B1	The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B) have been found for this gene. [provided by RefSeq, Jul 2008]
SNRPC	chr6	34757406	34773794	+	ENSG00000124562.9	protein_coding	U1C|Yhc1	6p21.31	small nuclear ribonucleoprotein polypeptide C	This gene encodes one of the specific protein components of the U1 small nuclear ribonucleoprotein (snRNP) particle required for the formation of the spliceosome. The encoded protein participates in the processing of nuclear precursor messenger RNA splicing. snRNP particles are attacked by autoantibodies frequently produced by patients with connective tissue diseases. The genome contains several pseudogenes of this functional gene. Alternative splicing results in a non-coding transcript variant.[provided by RefSeq, Oct 2009]
SNRPD1	chr18	21612267	21633524	+	ENSG00000167088.10	protein_coding	HsT2456|SMD1|SNRPD|Sm-D1	18q11.2	small nuclear ribonucleoprotein D1 polypeptide	This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP interactions through nonspecific electrostatic contacts with RNA. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
SNRPD2	chr19	45687454	45692569	-	ENSG00000125743.10	protein_coding	SMD2|SNRPD1|Sm-D2	19q13.32	small nuclear ribonucleoprotein D2 polypeptide	The protein encoded by this gene belongs to the small nuclear ribonucleoprotein core protein family. It is required for pre-mRNA splicing and small nuclear ribonucleoprotein biogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
SNRPD3	chr22	24555503	24609980	+	ENSG00000100028.11	protein_coding	SMD3|Sm-D3	22q11.23	small nuclear ribonucleoprotein D3 polypeptide	This gene encodes a core component of the spliceosome, which is a nuclear ribonucleoprotein complex that functions in pre-mRNA splicing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
SNRPE	chr1	203861603	203870550	+	ENSG00000182004.12	protein_coding	HYPT11|SME|Sm-E|snRNP-E	1q32.1	small nuclear ribonucleoprotein polypeptide E	The protein encoded by this gene is a core component of U small nuclear ribonucleoproteins, which are key components of the pre-mRNA processing spliceosome. The encoded protein plays a role in the 3 end processing of histone transcripts. This protein is one of the targets in the autoimmune disease systemic lupus erythematosus, and mutations in this gene have been associated with hypotrichosis. Several pseudogenes of this gene have been identified. [provided by RefSeq, Jun 2016]
SNRPEP2	chr9	6748703	6748981	-	ENSG00000256968.1	processed_pseudogene	SNRPEL1|bA390F4.4	9p24.1	SNRPE pseudogene 2	-
SNRPF	chr12	95858928	95903828	+	ENSG00000139343.10	protein_coding	SMF|Sm-F|snRNP-F	12q23.1	small nuclear ribonucleoprotein polypeptide F	Ubiquitous expression in bone marrow (RPKM 26.2), colon (RPKM 24.6) and 25 other tissues
SNRPFP2	chr1	25887360	25887610	+	ENSG00000229786.1	processed_pseudogene	-	1p36.11	small nuclear ribonucleoprotein polypeptide F pseudogene 2	-
SNRPFP4	chr3	48161176	48161417	+	ENSG00000235627.1	processed_pseudogene	-	3p21.31	small nuclear ribonucleoprotein polypeptide F pseudogene 4	-
SNRPG	chr2	70281362	70293771	-	ENSG00000143977.13	protein_coding	SMG|Sm-G	2p13.3	small nuclear ribonucleoprotein polypeptide G	The protein encoded by this gene is a component of the U1, U2, U4, and U5 small nuclear ribonucleoprotein complexes, precursors of the spliceosome. The encoded protein may also be a part of the U7 small nuclear ribonucleoprotein complex, which participates in the processing of the 3 end of histone transcripts. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
SNRPGP14	chr13	49488970	49489364	+	ENSG00000236577.1	processed_pseudogene	-	13q14.2	small nuclear ribonucleoprotein polypeptide G pseudogene 14	-
SNRPGP5	chr10	13104574	13104793	-	ENSG00000235763.1	processed_pseudogene	-	10p13	small nuclear ribonucleoprotein polypeptide G pseudogene 5	-
SNRPN	chr15	24823637	24978723	+	ENSG00000128739.21	protein_coding	HCERN3|PWCR|RT-LI|SM-D|SMN|SNRNP-N|SNURF-SNRPN|sm-N	15q11.2	small nuclear ribonucleoprotein polypeptide N	This gene is located within the Prader-Willi Syndrome critical region on chromosome 15 and is imprinted and expressed from the paternal allele. It encodes a component of the small nuclear ribonucleoprotein complex, which functions in pre-mRNA processing and may contribute to tissue-specific alternative splicing. Alternative promoter use and alternative splicing result in a multitude of transcript variants encoding the same protein. Transcript variants that initiate at the CpG island-associated imprinting center may be bicistronic and also encode the SNRPN upstream reading frame protein (SNURF) from an upstream open reading frame. In addition, long spliced transcripts for small nucleolar RNA host gene 14 (SNHG14) may originate from the promoters at this locus and share exons with this gene. Alterations in this region are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [provided by RefSeq, Mar 2017]
SNTA1	chr20	33407955	33443892	-	ENSG00000101400.5	protein_coding	LQT12|SNT1|TACIP1|dJ1187J4.5	20q11.21	syntrophin alpha 1	Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the most common syntrophin isoform found in cardiac tissues. The N-terminal PDZ domain of this syntrophin protein interacts with the C-terminus of the pore-forming alpha subunit (SCN5A) of the cardiac sodium channel Nav1.5. This protein also associates cardiac sodium channels with the nitric oxide synthase-PMCA4b (plasma membrane Ca-ATPase subtype 4b) complex in cardiomyocytes. This gene is a susceptibility locus for Long-QT syndrome (LQT) - an inherited disorder associated with sudden cardiac death from arrhythmia - and sudden infant death syndrome (SIDS). This protein also associates with dystrophin and dystrophin-related proteins at the neuromuscular junction and alters intracellular calcium ion levels in muscle tissue. [provided by RefSeq, Jan 2013]
SNTB1	chr8	120535745	120813273	-	ENSG00000172164.13	protein_coding	59-DAP|A1B|BSYN2|DAPA1B|SNT2|SNT2B1|TIP-43	8q24.12	syntrophin beta 1	Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]
SNTB2	chr16	69187129	69309052	+	ENSG00000168807.16	protein_coding	D16S2531E|EST25263|SNT2B2|SNT3|SNTL	16q22.1	syntrophin beta 2	Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]
SNTG1	chr8	49909789	50794118	+	ENSG00000147481.14	protein_coding	G1SYN|SYN4	8q11.21	syntrophin gamma 1	The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This family member plays a role in mediating gamma-enolase trafficking to the plasma membrane and in enhancing its neurotrophic activity. Mutations in this gene are associated with idiopathic scoliosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
SNTG2	chr2	950868	1367613	+	ENSG00000172554.11	protein_coding	G2SYN|SYN5	2p25.3	syntrophin gamma 2	This gene encodes a protein belonging to the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that bind to components of mechanosenstive sodium channels and the extreme carboxy-terminal domain of dystrophin and dystrophin-related proteins. The PDZ domain of this protein product interacts with a protein component of a mechanosensitive sodium channel that affects channel gating. Absence or reduction of this protein product has been associated with Duchenne muscular dystrophy. There is evidence of alternative splicing yet the full-length nature of these variants has not been described. [provided by RefSeq, Jul 2008]
SNU13	chr22	41673930	41690504	-	ENSG00000100138.13	protein_coding	15.5K|FA-1|FA1|NHP2L1|NHPX|OTK27|SNRNP15-5|SPAG12|SSFA1	22q13.2	small nuclear ribonucleoprotein 13	Originally named because of its sequence similarity to the Saccharomyces cerevisiae NHP2 (non-histone protein 2), this protein appears to be a highly conserved nuclear protein that is a component of the [U4/U6.U5] tri-snRNP. It binds to the 5 stem-loop of U4 snRNA. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
SNUPN	chr15	75598083	75626469	-	ENSG00000169371.13	protein_coding	KPNBL|RNUT1|Snurportin1	15q24.2	snurportin 1	The nuclear import of the spliceosomal snRNPs U1, U2, U4 and U5, is dependent on the presence of a complex nuclear localization signal. The latter is composed of the 5-2,2,7-terminal trimethylguanosine (m3G) cap structure of the U snRNA and the Sm core domain. The protein encoded by this gene interacts specifically with m3G-cap and functions as an snRNP-specific nuclear import receptor. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
SNURF	chr15	24954986	24977850	+	ENSG00000273173.5	protein_coding	-	15q11.2	SNRPN upstream open reading frame	-
SNX1	chr15	64094123	64146090	+	ENSG00000028528.14	protein_coding	HsT17379|VPS5	15q22.31	sorting nexin 1	This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This endosomal protein regulates the cell-surface expression of epidermal growth factor receptor. This protein also has a role in sorting protease-activated receptor-1 from early endosomes to lysosomes. This protein may form oligomeric complexes with family members. This gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
SNX10	chr7	26291895	26374329	+	ENSG00000086300.15	protein_coding	OPTB8	7p15.2	sorting nexin 10	This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. This gene may play a role in regulating endosome homeostasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
SNX11	chr17	48103357	48123074	+	ENSG00000002919.14	protein_coding	-	17q21.32	sorting nexin 11	Ubiquitous expression in thyroid (RPKM 9.8), spleen (RPKM 8.3) and 25 other tissues
SNX13	chr7	17790761	17940501	-	ENSG00000071189.21	protein_coding	RGS-PX1	7p21.1	sorting nexin 13	This gene encodes a PHOX domain- and RGS domain-containing protein that belongs to the sorting nexin (SNX) family and the regulator of G protein signaling (RGS) family. The PHOX domain is a phosphoinositide binding domain, and the SNX family members are involved in intracellular trafficking. The RGS family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. The RGS domain of this protein interacts with G alpha(s), accelerates its GTP hydrolysis, and attenuates G alpha(s)-mediated signaling. Overexpression of this protein delayes lysosomal degradation of the epidermal growth factor receptor. Because of its bifunctional role, this protein may link heterotrimeric G protein signaling and vesicular trafficking. [provided by RefSeq, Jul 2008]
SNX14	chr6	85505496	85594156	-	ENSG00000135317.12	protein_coding	RGS-PX2|SCAR20	6q14.3	sorting nexin 14	This gene encodes a member of the sorting nexin family. Members of this family have a phox (PX) phosphoinositide binding domain and are involved in intracellular trafficking. The encoded protein also contains a regulator of G protein signaling (RGS) domain. Regulator of G protein signaling family members are regulatory molecules that act as GTPase activating proteins for G alpha subunits of heterotrimeric G proteins. Alternate splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
SNX15	chr11	65027408	65040572	+	ENSG00000110025.12	protein_coding	HSAF001435	11q13.1	sorting nexin 15	This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Overexpression of this gene results in a decrease in the processing of insulin and hepatocyte growth factor receptors to their mature subunits. This decrease is caused by the mislocalization of furin, the endoprotease responsible for cleavage of insulin and hepatocyte growth factor receptors. This protein is involved in endosomal trafficking from the plasma membrane to recycling endosomes or the trans-Golgi network. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ADP-ribosylation factor-like 2 (ARL2) gene. [provided by RefSeq, Dec 2010]
SNX16	chr8	81799581	81842866	-	ENSG00000104497.13	protein_coding	-	8q21.13	sorting nexin 16	Ubiquitous expression in testis (RPKM 6.1), esophagus (RPKM 5.5) and 24 other tissues
SNX17	chr2	27370496	27377533	+	ENSG00000115234.10	protein_coding	-	2p23.3	sorting nexin 17	Ubiquitous expression in spleen (RPKM 29.0), lymph node (RPKM 26.3) and 25 other tissues
SNX18	chr5	54517759	54546585	+	ENSG00000178996.13	protein_coding	SH3PX2|SH3PXD3B|SNAG1	5q11.2	sorting nexin 18	This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a SH3 domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
SNX19	chr11	130875436	130916509	-	ENSG00000120451.10	protein_coding	CHET8	11q24.3-q25	sorting nexin 19	Islet antigen-2 (IA-2) is an autoantigen in type 1 diabetes and plays a role in insulin secretion. IA-2 is found in dense-core secretory vesicles and interacts with the product of this gene, a sorting nexin. In mouse pancreatic beta-cells, the encoded protein influenced insulin secretion by stabilizing the number of dense-core secretory vesicles. [provided by RefSeq, Dec 2016]
SNX2	chr5	122774996	122830108	+	ENSG00000205302.6	protein_coding	TRG-9	5q23.2	sorting nexin 2	This gene belongs to the sorting nexin family whose members contain the phosphoinositide-binding phox (PX) domain. The encoded protein is a component of the retromer complex which plays a role in protein sorting in the endocytic pathway. This protein may form oligomeric complexes with other family members. Alternate splicing results in multiple transcript variants of this gene. Pseudogenes associated with this gene are located on chromosomes 1 and 7. [provided by RefSeq, May 2013]
SNX20	chr16	50666300	50681353	-	ENSG00000167208.14	protein_coding	SLIC1	16q12.1	sorting nexin 20	SNX20 interacts with the cytoplasmic domain of PSGL1 (SELPLG; MIM 600738) and cycles PSGL1 into endosomes.[supplied by OMIM, Feb 2010]
SNX21	chr20	45833810	45843275	+	ENSG00000124104.18	protein_coding	C20orf161|PP3993|SNX-L|SNXL|dJ337O18.4	20q13.12	sorting nexin family member 21	This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members. The specific function of this protein has not been determined. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
SNX22	chr15	64151715	64157481	+	ENSG00000157734.13	protein_coding	-	15q22.31	sorting nexin 22	Ubiquitous expression in thyroid (RPKM 48.1), placenta (RPKM 36.5) and 25 other tissues
SNX24	chr5	122843439	123029354	+	ENSG00000064652.10	protein_coding	PRO1284|SBBI31	5q23.2	sorting nexin 24	Ubiquitous expression in placenta (RPKM 4.0), thyroid (RPKM 3.8) and 25 other tissues
SNX25	chr4	185204237	185370185	+	ENSG00000109762.15	protein_coding	MSTP043|SBBI31	4q35.1	sorting nexin 25	Broad expression in lung (RPKM 10.3), thyroid (RPKM 5.9) and 24 other tissues
SNX25P1	chr1	211417025	211417934	+	ENSG00000236809.2	unprocessed_pseudogene	-	1q32.3	sorting nexin 25 pseudogene 1	-
SNX27	chr1	151612065	151699091	+	ENSG00000143376.12	protein_coding	MRT1|MY014	1q21.3	sorting nexin 27	This gene encodes a member of the sorting nexin family, a diverse group of cytoplasmic and membrane-associated proteins involved in endocytosis of plasma membrane receptors and protein trafficking through these compartments. All members of this protein family contain a phosphoinositide binding domain (PX domain). A highly similar protein in mouse is responsible for the specific recruitment of an isoform of serotonin 5-hydroxytryptamine 4 receptor into early endosomes, suggesting the analogous role for the human protein. [provided by RefSeq, Jul 2008]
SNX29	chr16	11976737	12574289	+	ENSG00000048471.13	protein_coding	A-388D4.1|RUNDC2A	16p13.13-p13.12	sorting nexin 29	Ubiquitous expression in kidney (RPKM 5.6), lymph node (RPKM 3.2) and 24 other tissues
SNX29P2	chr16	29350746	29370272	+	ENSG00000271699.5	transcribed_unprocessed_pseudogene	RUNDC2C	16p11.2	sorting nexin 29 pseudogene 2	-
SNX3	chr6	108211222	108261260	-	ENSG00000112335.14	protein_coding	Grd19|MCOPS8|SDP3	6q21	sorting nexin 3	This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like most family members. This protein interacts with phosphatidylinositol-3-phosphate, and is involved in protein trafficking. A pseudogene of this gene is present on the sex chromosomes. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
SNX31	chr8	100572882	100663415	-	ENSG00000174226.8	protein_coding	-	8q22.3	sorting nexin 31	-
SNX32	chr11	65833641	65856896	+	ENSG00000172803.17	protein_coding	SNX6B	11q13.1	sorting nexin 32	Biased expression in brain (RPKM 2.1), testis (RPKM 1.0) and 7 other tissues
SNX33	chr15	75647906	75662301	+	ENSG00000173548.8	protein_coding	SH3PX3|SH3PXD3C|SNX30	15q24.2	sorting nexin 33	The protein encoded by this gene is involved in cytoskeletal reorganization, vesicle trafficking, endocytosis, and mitosis. The encoded protein is essential for the creation of the cleavage furrow during mitosis and for completion of mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
SNX4	chr3	125446644	125520197	-	ENSG00000114520.10	protein_coding	ATG24B	3q21.2	sorting nexin 4	This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associated with the long isoform of the leptin receptor and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor in cell cultures, but its function is unknown. This protein may form oligomeric complexes with family members. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2012]
SNX5	chr20	17941597	17968980	-	ENSG00000089006.16	protein_coding	-	20p11.23	sorting nexin 5	Ubiquitous expression in thyroid (RPKM 76.1), kidney (RPKM 52.7) and 24 other tissues
SNX6	chr14	34561094	34630183	-	ENSG00000129515.18	protein_coding	MSTP010|TFAF2	14q13.1	sorting nexin 6	This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associates with the long isoform of the leptin receptor, the transforming growth factor-beta family of receptor serine-threonine kinases, and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor. This protein may form oligomeric complexes with family member proteins through interactions of both the PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts encoding two distinct isoforms. [provided by RefSeq, Jul 2008]
SNX7	chr1	98661701	98760500	+	ENSG00000162627.16	protein_coding	-	1p21.3	sorting nexin 7	Ubiquitous expression in colon (RPKM 10.6), small intestine (RPKM 8.3) and 24 other tissues
SNX8	chr7	2251770	2354318	-	ENSG00000106266.10	protein_coding	Mvp1	7p22.3	sorting nexin 8	Broad expression in spleen (RPKM 12.6), testis (RPKM 7.0) and 24 other tissues
SNX9	chr6	157700387	157945077	+	ENSG00000130340.15	protein_coding	SDP1|SH3PX1|SH3PXD3A|WISP	6q25.3	sorting nexin 9	This gene encodes a member of the sorting nexin family. Members of this family contain a phosphoinositide binding domain, and are involved in intracellular trafficking. The encoded protein does not contain a coiled coil region, like some family members, but does contain a SRC homology domain near its N-terminus. The encoded protein is reported to have a variety of interaction partners, including of adaptor protein 2 , dynamin, tyrosine kinase non-receptor 2, Wiskott-Aldrich syndrome-like, and ARP3 actin-related protein 3. The encoded protein is implicated in several stages of intracellular trafficking, including endocytosis, macropinocytosis, and F-actin nucleation. [provided by RefSeq, Jul 2013]
SOAT1	chr1	179293714	179358680	+	ENSG00000057252.12	protein_coding	ACACT|ACAT|ACAT-1|ACAT1|SOAT|STAT	1q25.2	sterol O-acyltransferase 1	The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atherosclerotic plaques by controlling the equilibrium between free cholesterol and cytoplasmic cholesteryl esters. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]
SOAT2	chr12	53103518	53124538	+	ENSG00000167780.11	protein_coding	ACACT2|ACAT2|ARGP2	12q13.13	sterol O-acyltransferase 2	Summary:This gene is a member of a small family of acyl coenzyme A:cholesterol acyltransferases. The gene encodes a membrane-bound enzyme localized in the endoplasmic reticulum that produces intracellular cholesterol esters from long-chain fatty acyl CoA and cholesterol. The cholesterol esters are then stored as cytoplasmic lipid droplets inside the cell. The enzyme is implicated in cholesterol absorption in the intestine and in the assembly and secretion of apolipoprotein B-containing lipoproteins such as very low density lipoprotein (VLDL). Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008]
SOCS1	chr16	11254405	11256179	-	ENSG00000185338.4	protein_coding	AISIMD|CIS1|CISH1|JAB|SOCS-1|SSI-1|SSI1|TIP-3|TIP3	16p13.13	suppressor of cytokine signaling 1	This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by a subset of cytokines, including IL2, IL3 erythropoietin (EPO), CSF2/GM-CSF, and interferon (IFN)-gamma. The protein encoded by this gene functions downstream of cytokine receptors, and takes part in a negative feedback loop to attenuate cytokine signaling. Knockout studies in mice suggested the role of this gene as a modulator of IFN-gamma action, which is required for normal postnatal growth and survival. [provided by RefSeq, Jul 2008]
SOCS2	chr12	93569814	93583487	+	ENSG00000120833.13	protein_coding	CIS2|Cish2|SOCS-2|SSI-2|SSI2|STATI2	12q22	suppressor of cytokine signaling 2	This gene encodes a member of the suppressor of cytokine signaling (SOCS) family. SOCS family members are cytokine-inducible negative regulators of cytokine receptor signaling via the Janus kinase/signal transducer and activation of transcription pathway (the JAK/STAT pathway). SOCS family proteins interact with major molecules of signaling complexes to block further signal transduction, in part, by proteasomal depletion of receptors or signal-transducing proteins via ubiquitination. The expression of this gene can be induced by a subset of cytokines, including erythropoietin, GM-CSF, IL10, interferon (IFN)-gamma and by cytokine receptors such as growth horomone receptor. The protein encoded by this gene interacts with the cytoplasmic domain of insulin-like growth factor-1 receptor (IGF1R) and is thought to be involved in the regulation of IGF1R mediated cell signaling. This gene has pseudogenes on chromosomes 20 and 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
SOCS2-AS1	chr12	93542463	93571768	-	ENSG00000246985.7	processed_transcript	-	12q22	SOCS2 antisense RNA 1	-
SOCS3	chr17	78356778	78360077	-	ENSG00000184557.4	protein_coding	ATOD4|CIS3|Cish3|SOCS-3|SSI-3|SSI3	17q25.3	suppressor of cytokine signaling 3	This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene is induced by various cytokines, including IL6, IL10, and interferon (IFN)-gamma. The protein encoded by this gene can bind to JAK2 kinase, and inhibit the activity of JAK2 kinase. Studies of the mouse counterpart of this gene suggested the roles of this gene in the negative regulation of fetal liver hematopoiesis, and placental development. [provided by RefSeq, Jul 2008]
SOCS4	chr14	55027230	55049488	+	ENSG00000180008.8	protein_coding	SOCS7	14q22.3	suppressor of cytokine signaling 4	The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS), also known as STAT-induced STAT inhibitor (SSI), protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. Two alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
SOCS5	chr2	46698952	46763129	+	ENSG00000171150.7	protein_coding	CIS6|CISH6|Cish5|SOCS-5	2p21	suppressor of cytokine signaling 5	The protein encoded by this gene contains a SH2 domain and a SOCS BOX domain. The protein thus belongs to the suppressor of cytokine signaling (SOCS) family, also known as STAT-induced STAT inhibitor (SSI) protein family. SOCS family members are known to be cytokine-inducible negative regulators of cytokine signaling. The specific function of this protein has not yet been determined. Two alternatively spliced transcript variants encoding an identical protein have been reported. [provided by RefSeq, Jul 2008]
SOD1	chr21	31659622	31668931	+	ENSG00000142168.14	protein_coding	ALS|ALS1|HEL-S-44|IPOA|SOD|STAHP|hSod1|homodimer	21q22.11	superoxide dismutase 1	The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. In addition, this protein contains an antimicrobial peptide that displays antibacterial, antifungal, and anti-MRSA activity against E. coli, E. faecalis, S. aureus, S. aureus MRSA LPV+, S. agalactiae, and yeast C. krusei. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2020]
SOD2	chr6	159669057	159762529	-	ENSG00000112096.16	protein_coding	GClnc1|IPO-B|IPOB|MNSOD|MVCD6|Mn-SOD	6q25.3	superoxide dismutase 2	This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [provided by RefSeq, Apr 2016]
SOGA1	chr20	36777442	36863686	-	ENSG00000149639.14	protein_coding	C20orf117|KIAA0889|SOGA	20q11.23	suppressor of glucose, autophagy associated 1	Ubiquitous expression in thyroid (RPKM 9.7), brain (RPKM 6.2) and 22 other tissues
SOGA3	chr6	127438406	127519001	-	ENSG00000255330.9	protein_coding	C6orf174|dJ403A15.3	6q22.33	SOGA family member 3	Biased expression in brain (RPKM 11.8), fat (RPKM 5.6) and 13 other tissues
SOHLH2	chr13	36168208	36214615	-	ENSG00000120669.15	protein_coding	SOSF2|SPATA28|TEB1|bHLHe81	13q13.3	spermatogenesis and oogenesis specific basic helix-loop-helix 2	This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 13. The proteins encoded by this gene and another testis-specific transcription factor, SOHLH1, can form heterodimers, in addition to homodimers. There is a read-through locus (GeneID: 100526761) that shares sequence identity with this gene and the upstream CCDC169 (GeneID: 728591). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
SON	chr21	33542618	33577481	+	ENSG00000159140.19	protein_coding	BASS1|C21orf50|DBP-5|NREBP|SON3|TOKIMS	21q22.11	SON DNA and RNA binding protein	This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
SORBS1	chr10	95311771	95561414	-	ENSG00000095637.21	protein_coding	CAP|FLAF2|R85FL|SH3D5|SH3P12|SORB1	10q24.1	sorbin and SH3 domain containing 1	This gene encodes a CBL-associated protein which functions in the signaling and stimulation of insulin. Mutations in this gene may be associated with human disorders of insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
SORBS3	chr8	22544986	22575788	+	ENSG00000120896.13	protein_coding	SCAM-1|SCAM1|SH3D4	8p21.3	sorbin and SH3 domain containing 3	This gene encodes an SH3 domain-containing adaptor protein. The presence of SH3 domains play a role in this proteins ability to bind other cytoplasmic molecules and contribute to cystoskeletal organization, cell adhesion and migration, signaling, and gene expression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
SORCS1	chr10	106573663	107164534	-	ENSG00000108018.15	protein_coding	hSorCS	10q25.1	sortilin related VPS10 domain containing receptor 1	This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
SORCS2	chr4	7192538	7742836	+	ENSG00000184985.16	protein_coding	-	4p16.1	sortilin related VPS10 domain containing receptor 2	Broad expression in brain (RPKM 4.7), kidney (RPKM 2.0) and 20 other tissues
SORCS3	chr10	104641101	105265235	+	ENSG00000156395.12	protein_coding	SORCS	10q25.1	sortilin related VPS10 domain containing receptor 3	This gene encodes a type-I receptor transmembrane protein that is a member of the vacuolar protein sorting 10 receptor family. Proteins of this family are defined by a vacuolar protein sorting 10 domain at the N-terminus. The N-terminal segment of this domain has a consensus motif for proprotein convertase processing, and the C-terminal segment of this domain is characterized by ten conserved cysteine residues. The vacuolar protein sorting 10 domain is followed by a leucine-rich segment, a transmembrane domain, and a short C-terminal cytoplasmic domain that interacts with adaptor molecules. The transcript is expressed at high levels in the brain, and candidate gene studies suggest that genetic variation in this gene is associated with Alzheimers disease. Consistent with this observation, knockdown of the gene in cell culture results in an increase in amyloid precursor protein processing. [provided by RefSeq, Dec 2014]
SORD	chr15	45023104	45077185	+	ENSG00000140263.13	protein_coding	HEL-S-95n|RDH|SDH|SORD1|SORDD|XDH	15q21.1	sorbitol dehydrogenase	Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the interconversion of polyols and their corresponding ketoses, and together with aldose reductase (ALDR1; MIM 103880), makes up the sorbitol pathway that is believed to play an important role in the development of diabetic complications (summarized by Carr and Markham, 1995 [PubMed 8535074]). The first reaction of the pathway (also called the polyol pathway) is the reduction of glucose to sorbitol by ALDR1 with NADPH as the cofactor. SORD then oxidizes the sorbitol to fructose using NAD(+) cofactor.[supplied by OMIM, Jul 2010]
SORD2P	chr15	44825747	44884694	-	ENSG00000259479.6	transcribed_unprocessed_pseudogene	SORD2	15q21.1	sorbitol dehydrogenase 2, pseudogene	-
SORT1	chr1	109309568	109397951	-	ENSG00000134243.11	protein_coding	Gp95|LDLCQ6|NT3|NTR3	1p13.3|1p21.3-p13.1	sortilin 1	This gene encodes a member of the VPS10-related sortilin family of proteins. The encoded preproprotein is proteolytically processed by furin to generate the mature receptor. This receptor plays a role in the trafficking of different proteins to either the cell surface, or subcellular compartments such as lysosomes and endosomes. Expression levels of this gene may influence the risk of myocardial infarction in human patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
SOST	chr17	43753731	43758788	-	ENSG00000167941.2	protein_coding	CDD|DAND6|SOST1|VBCH	17q21.31	sclerostin	Sclerostin is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists. Loss-of-function mutations in this gene are associated with an autosomal-recessive disorder, sclerosteosis, which causes progressive bone overgrowth. A deletion downstream of this gene, which causes reduced sclerostin expression, is associated with a milder form of the disorder called van Buchem disease. [provided by RefSeq, Jul 2008]
SOSTDC1	chr7	16461481	16530580	-	ENSG00000171243.7	protein_coding	CDA019|DAND7|ECTODIN|USAG1	7p21.2	sclerostin domain containing 1	This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death. [provided by RefSeq, Jul 2008]
SOWAHA	chr5	132813587	132816797	+	ENSG00000198944.5	protein_coding	ANKRD43	5q31.1	sosondowah ankyrin repeat domain family member A	-
SOWAHB	chr4	76894928	76898147	-	ENSG00000186212.3	protein_coding	ANKRD56	4q21.1	sosondowah ankyrin repeat domain family member B	-
SOWAHC	chr2	109614334	109618990	+	ENSG00000198142.4	protein_coding	ANKRD57|C2orf26	2q13	sosondowah ankyrin repeat domain family member C	-
SOX10	chr22	37970686	37987422	-	ENSG00000100146.16	protein_coding	DOM|PCWH|SOX-10|WS2E|WS4|WS4C	22q13.1	SRY-box transcription factor 10	This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008]
SOX11	chr2	5692667	5701385	+	ENSG00000176887.6	protein_coding	CSS9|MRD27	2p25.2	SRY-box transcription factor 11	This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis. [provided by RefSeq, Jul 2008]
SOX12	chr20	325595	330224	+	ENSG00000177732.8	protein_coding	SOX22	20p13	SRY-box transcription factor 12	Members of the SOX family of transcription factors are characterized by the presence of a DNA-binding high mobility group (HMG) domain, homologous to the HMG box of sex-determining region Y (SRY). Forming a subgroup of the HMG domain superfamily, SOX proteins have been implicated in cell fate decisions in a diverse range of developmental processes. SOX transcription factors have diverse tissue-specific expression patterns during early development and have been proposed to act as target-specific transcription factors and/or as chromatin structure regulatory elements. The protein encoded by this gene was identified as a SOX family member based on conserved domains, and its expression in various tissues suggests a role in both differentiation and maintenance of several cell types. [provided by RefSeq, Jan 2013]
SOX14	chr3	137764284	137766338	+	ENSG00000168875.2	protein_coding	SOX28	3q22.3	SRY-box transcription factor 14	This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [provided by RefSeq, Jul 2008]
SOX15	chr17	7588178	7590170	-	ENSG00000129194.7	protein_coding	SOX20|SOX26|SOX27	17p13.1	SRY-box transcription factor 15	This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq, Jul 2008]
SOX18	chr20	64047582	64049641	-	ENSG00000203883.6	protein_coding	HLTRS|HLTS	20q13.33	SRY-box transcription factor 18	This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. [provided by RefSeq, Jul 2008]
SOX2	chr3	181711924	181714436	+	ENSG00000181449.3	protein_coding	ANOP3|MCOPS3	3q26.33	SRY-box transcription factor 2	This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008]
SOX2-OT	chr3	180989770	181836880	+	ENSG00000242808.7	sense_overlapping	NCRNA00043|SOX2OT	3q26.33	SOX2 overlapping transcript	This gene produces alternatively spliced long non-coding RNAs. These RNAs were observed to be upregulated in tumor cells and positively correlated to expression of the SRY-box 2 gene. Overexpression of these transcripts may promote cell proliferation. [provided by RefSeq, Dec 2017]
SOX30	chr5	157625679	157671480	-	ENSG00000039600.10	protein_coding	-	5q33.3	SRY-box transcription factor 30	Restricted expression toward testis (RPKM 26.2)
SOX4	chr6	21592768	21598619	+	ENSG00000124766.6	protein_coding	CSS10|EVI16	6p22.3	SRY-box transcription factor 4	This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. [provided by RefSeq, Jul 2008]
SOX5	chr12	23529500	23951032	-	ENSG00000134532.15	protein_coding	L-SOX5|L-SOX5B|L-SOX5F|LAMSHF	12p12.1	SRY-box transcription factor 5	This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
SOX6	chr11	15966449	16739591	-	ENSG00000110693.17	protein_coding	HSSOX6|SOXD|TOLCAS	11p15.2	SRY-box transcription factor 6	This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]
SOX7	chr8	10723768	10730512	-	ENSG00000171056.7	protein_coding	-	8p23.1	SRY-box transcription factor 7	Broad expression in placenta (RPKM 14.9), lung (RPKM 8.3) and 19 other tissues
SOX8	chr16	981808	986979	+	ENSG00000005513.9	protein_coding	-	16p13.3	SRY-box transcription factor 8	Biased expression in brain (RPKM 44.7) and salivary gland (RPKM 3.1)
SOX9	chr17	72121020	72126420	+	ENSG00000125398.5	protein_coding	CMD1|CMPD1|SRA1|SRXX2|SRXY10	17q24.3	SRY-box transcription factor 9	The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]
SP1	chr12	53380176	53416446	+	ENSG00000185591.9	protein_coding	-	12q13.13	Sp1 transcription factor	Ubiquitous expression in skin (RPKM 18.2), endometrium (RPKM 16.6) and 25 other tissues
SP100	chr2	230415942	230544090	+	ENSG00000067066.16	protein_coding	lysp100b	2q37.1	SP100 nuclear antigen	This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011]
SP110	chr2	230167293	230225729	-	ENSG00000135899.17	protein_coding	IFI41|IFI75|IPR1|VODI	2q37.1	SP110 nuclear body protein	The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]
SP140	chr2	230203110	230313215	+	ENSG00000079263.18	protein_coding	LYSP100|LYSP100-A|LYSP100-B	2q37.1	SP140 nuclear body protein	This gene encodes a member of the SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a plant homeobox zinc finger, and a bromodomain. The encoded protein is interferon-inducible and is expressed at high levels in the nuclei of leukocytes. Variants of this gene have been associated with multiple sclerosis, Crohns disease, and chronic lymphocytic leukemia. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016]
SP140L	chr2	230327184	230403732	+	ENSG00000185404.16	protein_coding	-	2q37.1	SP140 nuclear body protein like	-
SP2	chr17	47896150	47928957	+	ENSG00000167182.13	protein_coding	-	17q21.32	Sp2 transcription factor	Ubiquitous expression in testis (RPKM 4.3), spleen (RPKM 3.4) and 25 other tissues
SP2-AS1	chr17	47897330	47941410	-	ENSG00000234494.7	antisense	-	17q21.32	SP2 antisense RNA 1	-
SP3	chr2	173906459	173965702	-	ENSG00000172845.14	protein_coding	SPR2	2q31.1	Sp3 transcription factor	This gene belongs to a family of Sp1 related genes that encode transcription factors that regulate transcription by binding to consensus GC- and GT-box regulatory elements in target genes. This protein contains a zinc finger DNA-binding domain and several transactivation domains, and has been reported to function as a bifunctional transcription factor that either stimulates or represses the transcription of numerous genes. Transcript variants encoding different isoforms have been described for this gene, and one has been reported to initiate translation from a non-AUG (AUA) start codon. Additional isoforms, resulting from the use of alternate downstream translation initiation sites, have also been noted. A related pseudogene has been identified on chromosome 13. [provided by RefSeq, Feb 2010]
SP4	chr7	21428034	21514822	+	ENSG00000105866.13	protein_coding	HF1B|SPR-1	7p15.3	Sp4 transcription factor	The protein encoded by this gene is a transcription factor that can bind to the GC promoter region of a variety of genes, including those of the photoreceptor signal transduction system. The encoded protein binds to the same sites in promoter CpG islands as does the transcription factor SP1, although its expression is much more restricted compared to that of SP1. This gene may be involved in bipolar disorder and schizophrenia. [provided by RefSeq, May 2016]
SP5	chr2	170715351	170718078	+	ENSG00000204335.3	protein_coding	-	2q31.1	Sp5 transcription factor	-
SP6	chr17	47844908	47855874	-	ENSG00000189120.4	protein_coding	EPFN|EPIPROFIN|KLF14	17q21.32	Sp6 transcription factor	SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008]
SP7	chr12	53326575	53345315	-	ENSG00000170374.5	protein_coding	OI11|OI12|OSX|osterix	12q13.13	Sp7 transcription factor	This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010]
SPA17	chr11	124673798	124697518	+	ENSG00000064199.6	protein_coding	CT22|SP17|SP17-1	11q24.2	sperm autoantigenic protein 17	This gene encodes a protein present at the cell surface. The N-terminus has sequence similarity to human cAMP-dependent protein kinase A (PKA) type II alpha regulatory subunit (RIIa) while the C-terminus has an IQ calmodulin-binding motif. The central portion of the protein has carbohydrate binding motifs and likely functions in cell-cell adhesion. The protein was initially characterized by its involvement in the binding of sperm to the zona pellucida of the oocyte. Recent studies indicate that it is also involved in additional cell-cell adhesion functions such as immune cell migration and metastasis. A retrotransposed pseudogene is present on chromosome 10q22.[provided by RefSeq, Jan 2009]
SPAAR	chr9	35909483	35937153	+	ENSG00000235387.2	protein_coding	LINC00961|SPAR	9p13.3	small regulatory polypeptide of amino acid response	Biased expression in fat (RPKM 6.4), testis (RPKM 5.2) and 8 other tissues
SPACA3	chr17	32970376	32997877	+	ENSG00000141316.12	protein_coding	ALLP17|CT54|LYC3|LYZC|LYZL3|SLLP1	17q11.2	sperm acrosome associated 3	The protein encoded by this gene is a sperm surface protein that may be involved in adhesion to the egg prior to fertilization. While the encoded protein has significant similarity to lysozyme at the amino acid level, it has no detectable bacteriocidal activity. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
SPACA4	chr19	48606743	48607714	+	ENSG00000177202.2	protein_coding	SAMP14	19q13.33	sperm acrosome associated 4	-
SPACA9	chr9	132878027	132890201	+	ENSG00000165698.15	protein_coding	C9orf9|Mast	9q34.13	sperm acrosome associated 9	Broad expression in testis (RPKM 17.0), thyroid (RPKM 3.5) and 15 other tissues
SPAG1	chr8	100157906	100259278	+	ENSG00000104450.12	protein_coding	CILD28|CT140|DNAAF13|HEL-S-268|HSD-3.8|SP75|TPIS	8q22.2	sperm associated antigen 1	The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm agglutinating antibodies from an infertile woman. Furthermore, immunization of female rats with the recombinant human protein reduced fertility. This protein localizes to the plasma membrane of germ cells in the testis and to the post-acrosomal plasma membrane of mature spermatozoa. Recombinant polypeptide binds GTP and exhibits GTPase activity. Thus, this protein may regulate GTP signal transduction pathways involved in spermatogenesis and fertilization. Two transcript variants of this gene encode the same protein. [provided by RefSeq, Jul 2008]
SPAG16	chr2	213284379	214410501	+	ENSG00000144451.18	protein_coding	PF20|WDR29	2q34	sperm associated antigen 16	Cilia and flagella are comprised of a microtubular backbone, the axoneme, which is organized by the basal body and surrounded by plasma membrane. SPAG16 encodes 2 major proteins that associate with the axoneme of sperm tail and the nucleus of postmeiotic germ cells, respectively (Zhang et al., 2007 [PubMed 17699735]).[supplied by OMIM, Jul 2008]
SPAG17	chr1	117953861	118185223	-	ENSG00000155761.13	protein_coding	CT143|PF6|SPGF55	1p12	sperm associated antigen 17	This gene encodes a central pair protein present in the axonemes of cells with a 9 + 2 organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017]
SPAG4	chr20	35615892	35621049	+	ENSG00000061656.9	protein_coding	CT127|SUN4	20q11.22	sperm associated antigen 4	The mammalian sperm flagellum contains two cytoskeletal structures associated with the axoneme: the outer dense fibers surrounding the axoneme in the midpiece and principal piece and the fibrous sheath surrounding the outer dense fibers in the principal piece of the tail. Defects in these structures are associated with abnormal tail morphology, reduced sperm motility, and infertility. In the rat, the protein encoded by this gene associates with an outer dense fiber protein via a leucine zipper motif and localizes to the microtubules of the manchette and axoneme during sperm tail development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
SPAG5	chr17	28577565	28599279	-	ENSG00000076382.16	protein_coding	DEEPEST|MAP126|hMAP126	17q11.2	sperm associated antigen 5	This gene encodes a protein associated with the mitotic spindle apparatus. The encoded protein may be involved in the functional and dynamic regulation of mitotic spindles. [provided by RefSeq, Jul 2008]
SPAG5-AS1	chr17	28598790	28617377	+	ENSG00000227543.4	processed_transcript	-	17q11.2	SPAG5 antisense RNA 1	-
SPAG7	chr17	4959226	4967872	-	ENSG00000091640.7	protein_coding	ACRP|FSA-1	17p13.2	sperm associated antigen 7	Ubiquitous expression in heart (RPKM 25.7), kidney (RPKM 18.4) and 25 other tissues
SPAG8	chr9	35808045	35812272	-	ENSG00000137098.13	protein_coding	BS-84|CILD28|CT142|HSD-1|SMP1|SPAG3|hSMP-1	9p13.3	sperm associated antigen 8	The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein encoded by this gene is recognized by sperm agglutinating antibodies from an infertile woman. This protein is localized in germ cells of the testis at all stages of spermatogenesis and is localized to the acrosomal region of mature spermatozoa. This protein interacts with ACT (activator of CREM in testis) and may play a role in CREM (cAMP response element modulator)-ACT-mediated gene transcription during spermatogenesis. This protein may also play a role in spermatogenesis by regulating microtubule formation and cell division. Alternatively spliced variants that encode different protein isoforms have been described but the full-length sequences of only two have been determined. [provided by RefSeq, Jul 2012]
SPAG9	chr17	50962174	51120865	-	ENSG00000008294.20	protein_coding	CT89|HLC-6|HLC4|HLC6|JIP-4|JIP4|JLP|PHET|PIG6	17q21.33	sperm associated antigen 9	This gene encodes a member of the cancer testis antigen gene family. The encoded protein functions as a scaffold protein that structurally organizes mitogen-activated protein kinases and mediates c-Jun-terminal kinase signaling. This protein also binds to kinesin-1 and may be involved in microtubule-based membrane transport. This protein may play a role in tumor growth and development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
SPARC	chr5	151661096	151687165	-	ENSG00000113140.10	protein_coding	BM-40|OI17|ON|ONT	5q33.1	secreted protein acidic and cysteine rich	This gene encodes a cysteine-rich acidic matrix-associated protein. The encoded protein is required for the collagen in bone to become calcified but is also involved in extracellular matrix synthesis and promotion of changes to cell shape. The gene product has been associated with tumor suppression but has also been correlated with metastasis based on changes to cell shape which can promote tumor cell invasion. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2015]
SPARCL1	chr4	87473335	87531061	-	ENSG00000152583.12	protein_coding	MAST 9|MAST9|PIG33|SC1	4q22.1	SPARC like 1	Broad expression in brain (RPKM 777.2), endometrium (RPKM 500.6) and 20 other tissues
SPART	chr13	 36301638	36370180	-	ENSG00000133104	protein-coding	SPG20|TAHCCP1	13q13.3	spartin	This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008]
SPART-AS1	chr13	 36346431	36369735	+	ENSG00000120664	ncRNA	C13orf43|SPG20-AS1|SPG20OS	13q13.3	SPART antisense RNA 1	Low expression observed in reference dataset
SPAST	chr2	32063611	32157637	+	ENSG00000021574.11	protein_coding	ADPSP|FSP2|SPG4	2p22.3	spastin	This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The use of alternative translational initiation sites in this gene results in a single transcript variant that can produce isoforms that differ in the length of their N-terminus and which thereby differ in the efficiency of their export from the nucleus to the cytoplasm. In addition, alternative splicing results in multiple transcript variants that encode isoforms that differ in other protein regions as well. One isoform of this gene has been shown to be a microtubule-severing enzyme that regulates microtubule abundance, mobility, and plus-end distribution. Mutations in this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, May 2018]
SPATA1	chr1	84506300	84566194	+	ENSG00000122432.17	protein_coding	SP-2|SPAP1	1p22.3	spermatogenesis associated 1	Broad expression in colon (RPKM 6.0), testis (RPKM 4.7) and 22 other tissues
SPATA13	chr13	23979805	24307074	+	ENSG00000182957.15	protein_coding	ARHGEF29|ASEF2	13q12.12	spermatogenesis associated 13	Ubiquitous expression in spleen (RPKM 22.0), lymph node (RPKM 7.6) and 25 other tissues
SPATA17	chr1	217631324	217871696	+	ENSG00000162814.10	protein_coding	CFAP305|FAP305|IQCH|MOT17|MSRG-11|MSRG11	1q41	spermatogenesis associated 17	Restricted expression toward testis (RPKM 27.4)
SPATA17-AS1	chr1	217781198	217785120	-	ENSG00000234070.1	antisense	-	1q41	SPATA17 antisense RNA 1	-
SPATA18	chr4	52051331	52097292	+	ENSG00000163071.10	protein_coding	Mieap|SPETEX1	4q12	spermatogenesis associated 18	This gene encodes a p53-inducible protein that is able to induce lysosome-like organelles within mitochondria that eliminate oxidized mitochondrial proteins, thereby contributing to mitochondrial quality control. Dysregulation of mitochondrial quality control is associated with cancer and degenerative diseases. The encoded protein mediates accumulation of the lysosome-like mitochondrial organelles through interaction with B cell lymphoma 2 interacting protein 3 and B cell lymphoma 2 interacting protein 3 like at the outer mitochondrial membrane, which allows translocation of lysosomal proteins to the mitochondrial matrix from the cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
SPATA19	chr11	133840631	133845538	-	ENSG00000166118.7	protein_coding	CT132|SPAS1|spergen1	11q25	spermatogenesis associated 19	Restricted expression toward testis (RPKM 27.4)
SPATA2	chr20	49903391	49915508	-	ENSG00000158480.10	protein_coding	PD1|PPP1R145|tamo	20q13.13	spermatogenesis associated 2	Broad expression in testis (RPKM 8.7), brain (RPKM 8.4) and 25 other tissues
SPATA20	chr17	50543058	50555852	+	ENSG00000006282.20	protein_coding	HEL-S-98|SSP411|Tisp78	17q21.33	spermatogenesis associated 20	Broad expression in testis (RPKM 59.2), thyroid (RPKM 34.4) and 25 other tissues
SPATA20P1	chr21	38238227	38238664	-	ENSG00000231123.1	processed_pseudogene	-	21q22.13	spermatogenesis associated 20 pseudogene 1	-
SPATA21	chr1	16387117	16437424	-	ENSG00000187144.11	protein_coding	spergen-2|spergen2	1p36.13	spermatogenesis associated 21	Ubiquitous expression in fat (RPKM 12.4), duodenum (RPKM 11.2) and 25 other tissues
SPATA24	chr5	139396563	139404088	-	ENSG00000170469.10	protein_coding	CCDC161|T6441	5q31.2	spermatogenesis associated 24	Broad expression in testis (RPKM 10.5), prostate (RPKM 2.2) and 14 other tissues
SPATA25	chr20	45886489	45887635	-	ENSG00000149634.4	protein_coding	C20orf165|TSG23|dJ337O18.8	20q13.12	spermatogenesis associated 25	Broad expression in testis (RPKM 5.9), ovary (RPKM 2.4) and 22 other tissues
SPATA2L	chr16	89696343	89701705	-	ENSG00000158792.15	protein_coding	C16orf76|tamo	16q24.3	spermatogenesis associated 2 like	Ubiquitous expression in duodenum (RPKM 4.4), kidney (RPKM 2.8) and 25 other tissues
SPATA31B1P	chr9	82057647	82063682	-	ENSG00000231649.3	unprocessed_pseudogene	C9orf36B|FAM75B|SPATA31B1	9q21.32	SPATA31 subfamily B member 1, pseudogene	-
SPATA31C1	chr9	87914493	87923505	+	ENSG00000230246.7	transcribed_unprocessed_pseudogene	FAM75C1|SPATA31C2	9q22.1	SPATA31 subfamily C member 1	Predicted to be involved in cell differentiation and spermatogenesis. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
SPATA31D2P	chr9	81966564	81972130	+	ENSG00000237770.2	unprocessed_pseudogene	FAM75D2P	9q21.32	SPATA31 subfamily D member 2, pseudogene	-
SPATA32	chr17	45254393	45262112	-	ENSG00000184361.12	protein_coding	AEP2|C17orf46|TEX34|VAD1.2	17q21.31	spermatogenesis associated 32	Restricted expression toward testis (RPKM 17.5)
SPATA33	chr16	89657802	89671272	+	ENSG00000167523.13	protein_coding	C16orf55	16q24.3	spermatogenesis associated 33	Broad expression in testis (RPKM 13.1), brain (RPKM 1.9) and 15 other tissues
SPATA41	chr15	100344457	100349655	-	ENSG00000189419.6	lincRNA	HSD47	15q26.3	spermatogenesis associated 41	Biased expression in testis (RPKM 2.7), liver (RPKM 0.6) and 11 other tissues
SPATA48	chr7	 50095883	50159256	+	ENSG00000164500	protein-coding	C7orf72	7p12.2	spermatogenesis associated 48	Restricted expression toward testis (RPKM 1.9)
SPATA5	chr4	122923074	123319450	+	ENSG00000145375.7	protein_coding	AFG2|EHLMRS|SPAF	4q28.1	spermatogenesis associated 5	This gene encodes a member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellular processes that include membrane fusion, DNA replication, microtubule severing, and protein degradation. The protein encoded by this gene has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Allelic variants in this gene have been associated with epilepsy, hearing loss, and cognitive disability syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
SPATA5L1	chr15	45402331	45421419	+	ENSG00000171763.18	protein_coding	-	15q21.1	spermatogenesis associated 5 like 1	-
SPATA6L	chr9	4553386	4666674	-	ENSG00000106686.16	protein_coding	C9orf68|bA6J24.2	9p24.2-p24.1	spermatogenesis associated 6 like	Broad expression in testis (RPKM 1.8), gall bladder (RPKM 0.4) and 16 other tissues
SPATA7	chr14	88384924	88470350	+	ENSG00000042317.16	protein_coding	HEL-S-296|HSD-3.1|HSD3|LCA3	14q31.3	spermatogenesis associated 7	This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
SPATA9	chr5	95652181	95698711	-	ENSG00000145757.15	protein_coding	NYD-SP16	5q15	spermatogenesis associated 9	Biased expression in testis (RPKM 4.4), bone marrow (RPKM 0.8) and 5 other tissues
SPATC1	chr8	144012414	144047085	+	ENSG00000186583.11	protein_coding	SPATA15	8q24.3	spermatogenesis and centriole associated 1	Biased expression in testis (RPKM 4.1), bone marrow (RPKM 1.1) and 1 other tissue
SPATS1	chr6	44342660	44377167	+	ENSG00000249481.6	protein_coding	DDIP|SPATA8|SRSP1	6p21.1	spermatogenesis associated serine rich 1	Restricted expression toward testis (RPKM 12.6)
SPATS2	chr12	49366584	49527424	+	ENSG00000123352.17	protein_coding	Nbla00526|P59SCR|SCR59|SPATA10	12q13.12	spermatogenesis associated serine rich 2	Broad expression in testis (RPKM 13.8), lymph node (RPKM 6.7) and 25 other tissues
SPATS2L	chr2	200305881	200482263	+	ENSG00000196141.13	protein_coding	DNAPTP6|SGNP	2q33.1	spermatogenesis associated serine rich 2 like	Ubiquitous expression in gall bladder (RPKM 14.3), heart (RPKM 9.6) and 25 other tissues
SPC24	chr19	11131520	11155808	-	ENSG00000161888.11	protein_coding	SPBC24	19p13.2	SPC24 component of NDC80 kinetochore complex	Broad expression in bone marrow (RPKM 2.7), lymph node (RPKM 1.3) and 16 other tissues
SPC25	chr2	168834132	168913371	-	ENSG00000152253.8	protein_coding	AD024|SPBC25|hSpc25	2q24.3	SPC25 component of NDC80 kinetochore complex	This gene encodes a protein that may be involved in kinetochore-microtubule interaction and spindle checkpoint activity. [provided by RefSeq, Jul 2008]
SPCS1	chr3	52704955	52711146	+	ENSG00000114902.13	protein_coding	HSPC033|SPC1|SPC12|YJR010C-A	3p21.1	signal peptidase complex subunit 1	Ubiquitous expression in kidney (RPKM 60.9), colon (RPKM 57.9) and 25 other tissues
SPCS2	chr11	74949247	74979031	+	ENSG00000118363.11	protein_coding	-	11q13.4	signal peptidase complex subunit 2	-
SPCS3	chr4	176319964	176332245	+	ENSG00000129128.12	protein_coding	PRO3567|SPC22|SPC22/23|SPC23|SPC3|YLR066W	4q34.2	signal peptidase complex subunit 3	Ubiquitous expression in thyroid (RPKM 45.3), appendix (RPKM 34.4) and 25 other tissues
SPDEF	chr6	34537802	34556333	-	ENSG00000124664.10	protein_coding	PDEF|bA375E1.3	6p21.31	SAM pointed domain containing ETS transcription factor	The protein encoded by this gene belongs to the ETS family of transcription factors. It is highly expressed in the prostate epithelial cells, and functions as an androgen-independent transactivator of prostate-specific antigen (PSA) promoter. Higher expression of this protein has also been reported in brain, breast, lung and ovarian tumors, compared to the corresponding normal tissues, and it shows better tumor-association than other cancer-associated molecules, making it a more suitable target for developing specific cancer therapies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
SPDL1	chr5	169583634	169604778	+	ENSG00000040275.16	protein_coding	CCDC99	5q35.1	spindle apparatus coiled-coil protein 1	This gene encodes a coiled-coil domain-containing protein that functions in mitotic spindle formation and chromosome segregation. The encoded protein plays a role in coordinating microtubule attachment by promoting recruitment of dynein proteins, and in mitotic checkpoint signaling. [provided by RefSeq, Jul 2016]
SPDYA	chr2	28782517	28850611	+	ENSG00000163806.15	protein_coding	RINGO3|RINGOA|SPDY1|SPY1	2p23.2	speedy/RINGO cell cycle regulator family member A	Enables protein kinase activator activity and protein kinase binding activity. Involved in several processes, including G1/S transition of mitotic cell cycle; positive regulation of cell population proliferation; and positive regulation of protein kinase activity. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
SPDYC	chr11	65170154	65173244	+	ENSG00000204710.2	protein_coding	RINGOC|Ringo2	11q13.1	speedy/RINGO cell cycle regulator family member C	Enables protein kinase binding activity. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
SPDYE1	chr7	44000889	44010122	+	ENSG00000136206.3	protein_coding	Ringo1|SPDYB2L2|SPDYE|WBSCR19	7p13	speedy/RINGO cell cycle regulator family member E1	This gene is located at chromosome 7p13 which is close to the Williams Beuren syndrome chromosome region 7q11.23. [provided by RefSeq, Jul 2008]
SPDYE16	chr7	76531319	76541459	-	ENSG00000185040.13	protein_coding	-	7q11.23	speedy/RINGO cell cycle regulator family member E16	Broad expression in testis (RPKM 3.6), skin (RPKM 1.1) and 24 other tissues
SPDYE18	chr7	77052785	77060512	-	ENSG00000205482.9	unprocessed_pseudogene	-	7q11.23	speedy/RINGO cell cycle regulator family member E18	-
SPDYE2	chr7	102551232	102562308	+	ENSG00000205238.9	protein_coding	SPDYB2-L1|SPDYB2L1	7q22.1	speedy/RINGO cell cycle regulator family member E2	Broad expression in testis (RPKM 4.7), spleen (RPKM 2.6) and 24 other tissues
SPDYE2B	chr7	102650325	102661398	+	ENSG00000173678.14	protein_coding	SPDYE2L	7q22.1	speedy/RINGO cell cycle regulator family member E2B	Predicted to enable protein kinase binding activity. [provided by Alliance of Genome Resources, Apr 2022]
SPDYE3	chr7	100307702	100322196	+	ENSG00000214300.7	protein_coding	SPDYB2	7q22.1	speedy/RINGO cell cycle regulator family member E3	Broad expression in testis (RPKM 3.8), lymph node (RPKM 1.4) and 23 other tissues
SPDYE5	chr7	75493625	75504304	+	ENSG00000170092.14	protein_coding	-	7q11.23	speedy/RINGO cell cycle regulator family member E5	-
SPDYE6	chr7	102347206	102356444	-	ENSG00000260097.2	protein_coding	-	7q22.1	speedy/RINGO cell cycle regulator family member E6	Broad expression in testis (RPKM 6.2), spleen (RPKM 2.1) and 22 other tissues
SPECC1	chr17	20009344	20319026	+	ENSG00000128487.16	protein_coding	CYTSB|HCMOGT-1|HCMOGT1|NSP|NSP5	17p11.2	sperm antigen with calponin homology and coiled-coil domains 1	The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
SPECC1L	chr22	24270817	24417740	+	ENSG00000100014.19	protein_coding	CYTSA|GBBB2|OBLFC1|TBHS	22q11.23	sperm antigen with calponin homology and coiled-coil domains 1 like	This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]
SPEF1	chr20	3777504	3781448	-	ENSG00000101222.12	protein_coding	C20orf28|CLAMP|SPEF1A	20p13	sperm flagellar 1	Biased expression in testis (RPKM 4.6), brain (RPKM 1.1) and 4 other tissues
SPEF2	chr5	35617844	35814611	+	ENSG00000152582.13	protein_coding	CT122|KPL2|SPGF43	5p13.2	sperm flagellar 2	Broad expression in endometrium (RPKM 2.4), testis (RPKM 2.1) and 24 other tissues
SPEG	chr2	219434846	219498287	+	ENSG00000072195.14	protein_coding	APEG-1|APEG1|BPEG|CNM5|MYLK6|SPEGalpha|SPEGbeta	2q35	striated muscle enriched protein kinase	This gene encodes a protein with similarity to members of the myosin light chain kinase family. This protein family is required for myocyte cytoskeletal development. Along with the desmin gene, expression of this gene may be controlled by the desmin locus control region. Mutations in this gene are associated with centronuclear myopathy 5. [provided by RefSeq, Jun 2016]
SPEM2	chr17	 7425616	7427568	+	ENSG00000184560	protein-coding	C17orf74	17p13.1	SPEM family member 2	Restricted expression toward testis (RPKM 18.5)
SPEN	chr1	15847864	15940460	+	ENSG00000065526.10	protein_coding	HIAA0929|MINT|RATARS|RBM15C|SHARP	1p36.21-p36.13	spen family transcriptional repressor	This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins involved in histone deacetylation, or through sequestration of transcriptional activators. The product of this gene contains a carboxy-terminal domain that permits binding to other corepressor proteins. This domain also permits interaction with members of the NuRD complex, a nucleosome remodeling protein complex that contains deacetylase activity. In addition, this repressor contains several RNA recognition motifs that confer binding to a steroid receptor RNA coactivator; this binding can modulate the activity of both liganded and nonliganded steroid receptors. [provided by RefSeq, Jul 2008]
SPG11	chr15	44562696	44663678	-	ENSG00000104133.14	protein_coding	ALS5|CMT2X|KIAA1840	15q21.1	SPG11 vesicle trafficking associated, spatacsin	The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
SPG21	chr15	64963021	64990310	-	ENSG00000090487.10	protein_coding	ABHD21|ACP33|BM-019|GL010|MAST	15q22.31	SPG21 abhydrolase domain containing, maspardin	The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
SPG7	chr16	89490917	89557768	+	ENSG00000197912.14	protein_coding	CAR|CMAR|PGN|SPG5C	16q24.3	SPG7 matrix AAA peptidase subunit, paraplegin	This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]
SPHK1	chr17	76376584	76387860	+	ENSG00000176170.13	protein_coding	SPHK	17q25.1	sphingosine kinase 1	The protein encoded by this gene catalyzes the phosphorylation of sphingosine to form sphingosine-1-phosphate (S1P), a lipid mediator with both intra- and extracellular functions. Intracellularly, S1P regulates proliferation and survival, and extracellularly, it is a ligand for cell surface G protein-coupled receptors. This protein, and its product S1P, play a key role in TNF-alpha signaling and the NF-kappa-B activation pathway important in inflammatory, antiapoptotic, and immune processes. Phosphorylation of this protein alters its catalytic activity and promotes its translocation to the plasma membrane. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2017]
SPHK2	chr19	48619291	48630717	+	ENSG00000063176.15	protein_coding	SK 2|SK-2|SPK 2|SPK-2	19q13.33	sphingosine kinase 2	This gene encodes one of two sphingosine kinase isozymes that catalyze the phosphorylation of sphingosine into sphingosine 1-phosphate. Sphingosine 1-phosphate mediates many cellular processes including migration, proliferation and apoptosis, and also plays a role in several types of cancer by promoting angiogenesis and tumorigenesis. The encoded protein may play a role in breast cancer proliferation and chemoresistance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
SPHKAP	chr2	227979950	228181645	-	ENSG00000153820.12	protein_coding	SKIP	2q36.3	SPHK1 interactor, AKAP domain containing	Biased expression in heart (RPKM 11.8), brain (RPKM 8.0) and 1 other tissue
SPI1	chr11	47354860	47378576	-	ENSG00000066336.11	protein_coding	OF|PU.1|SFPI1|SPI-1|SPI-A	11p11.2	Spi-1 proto-oncogene	This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
SPICE1	chr3	113442718	113515187	-	ENSG00000163611.11	protein_coding	CCDC52|SPICE	3q13.2	spindle and centriole associated protein 1	Ubiquitous expression in testis (RPKM 3.6), endometrium (RPKM 3.3) and 25 other tissues
SPIDR	chr8	47260575	47736306	+	ENSG00000164808.16	protein_coding	KIAA0146	8q11.21	scaffold protein involved in DNA repair	Involved in several processes, including cellular response to camptothecin; cellular response to hydroxyurea; and regulation of double-strand break repair. Located in nuclear chromosome and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
SPIN1	chr9	88388419	88478694	+	ENSG00000106723.16	protein_coding	SPIN|TDRD24	9q22.1	spindlin 1	Ubiquitous expression in endometrium (RPKM 40.9), brain (RPKM 36.4) and 25 other tissues
SPINDOC	chr11	 63813456	63827716	+	ENSG00000168005	protein-coding	C11orf84|SPIN-DOC	11q13.1	spindlin interactor and repressor of chromatin binding	Broad expression in testis (RPKM 9.7), placenta (RPKM 7.2) and 23 other tissues
SPINK2	chr4	56809860	56821742	-	ENSG00000128040.10	protein_coding	HUSI-II|SPGF29	4q12	serine peptidase inhibitor Kazal type 2	This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein acts as a trypsin and acrosin inhibitor in the genital tract and is localized in the spermatozoa. The protein has been associated with the progression of lymphomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
SPINK7	chr5	148312419	148315922	+	ENSG00000145879.10	protein_coding	ECG2|ECRG2	5q32	serine peptidase inhibitor Kazal type 7	Restricted expression toward esophagus (RPKM 102.7)
SPINK8	chr3	48306842	48328341	-	ENSG00000229453.2	protein_coding	-	3p21.31	serine peptidase inhibitor Kazal type 8 (putative)	-
SPINK9	chr5	148321203	148339849	+	ENSG00000204909.7	protein_coding	LEKTI2	5q32	serine peptidase inhibitor Kazal type 9	The protein encoded by this gene is a Kazal-type serine protease inhibitor that appears to specifically target kallikrein-related peptidase 5 (KLK5) in the palmo-plantar epidermis. KLK5 is an important initiator of skin desquamation, so the encoded protease inhibitor may regulate skin differentiation in the palms of hands and soles of feet. This cationic protein has also been shown to promote keratinocyte migration by activation of the epidermal growth factor receptor (EGFR). [provided by RefSeq, Dec 2015]
SPINT1	chr15	40844018	40858207	+	ENSG00000166145.14	protein_coding	HAI|HAI1|MANSC2	15q15.1	serine peptidase inhibitor, Kunitz type 1	The protein encoded by this gene is a member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regulation of the proteolytic activation of HGF in injured tissues. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008]
SPINT2	chr19	38244035	38292614	+	ENSG00000167642.12	protein_coding	DIAR3|HAI-2|HAI2|Kop|PB	19q13.2	serine peptidase inhibitor, Kunitz type 2	This gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
SPIRE1	chr18	12446512	12658134	-	ENSG00000134278.15	protein_coding	Spir-1	18p11.21	spire type actin nucleation factor 1	Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008]
SPIRE2	chr16	89818179	89871319	+	ENSG00000204991.10	protein_coding	Spir-2	16q24.3	spire type actin nucleation factor 2	Broad expression in stomach (RPKM 4.5), colon (RPKM 4.1) and 20 other tissues
SPN	chr16	29662979	29670876	+	ENSG00000197471.11	protein_coding	CD43|GALGP|GPL115|LSN	16p11.2	sialophorin	This gene encodes a highly sialylated glycoprotein that functions in antigen-specific activation of T cells, and is found on the surface of thymocytes, T lymphocytes, monocytes, granulocytes, and some B lymphocytes. It contains a mucin-like extracellular domain, a transmembrane region and a carboxy-terminal intracellular region. The extracellular domain has a high proportion of serine and threonine residues, allowing extensive O-glycosylation, and has one potential N-glycosylation site, while the carboxy-terminal region has potential phosphorylation sites that may mediate transduction of activation signals. Different glycoforms of this protein have been described. In stimulated immune cells, proteolytic cleavage of the extracellular domain occurs in some cell types, releasing a soluble extracellular fragment. Defects in expression of this gene are associated with Wiskott-Aldrich syndrome. [provided by RefSeq, Sep 2017]
SPNS1	chr16	28974221	28984548	+	ENSG00000169682.17	protein_coding	HSpin1|LAT|PP2030|SLC62A1|SLC63A1|SPIN1|SPINL|nrs	16p11.2	sphingolipid transporter 1 (putative)	Ubiquitous expression in lung (RPKM 11.3), placenta (RPKM 11.2) and 25 other tissues
SPNS2	chr17	4498838	4539035	+	ENSG00000183018.8	protein_coding	DFNB115|SLC62A2|SLC63A2	17p13.2	sphingolipid transporter 2	The protein encoded by this gene is a transporter of sphingosine 1-phosphate, a secreted lipid that is important in cardiovascular, immunological, and neural development. Defects in this gene are a cause of early onset progressive hearing loss. [provided by RefSeq, Jul 2016]
SPOCD1	chr1	31790422	31816051	-	ENSG00000134668.12	protein_coding	PPP1R146	1p35.2	SPOC domain containing 1	This gene encodes a protein that belongs to the TFIIS family of transcription factors. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
SPOCK1	chr5	136975298	137598379	-	ENSG00000152377.13	protein_coding	SPOCK|TESTICAN|TIC1	5q31.2	SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1	This gene encodes the protein core of a seminal plasma proteoglycan containing chondroitin- and heparan-sulfate chains. The proteins function is unknown, although similarity to thyropin-type cysteine protease-inhibitors suggests its function may be related to protease inhibition. [provided by RefSeq, Jul 2008]
SPOCK2	chr10	72059035	72089032	-	ENSG00000107742.12	protein_coding	testican-2	10q22.1	SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2	This gene encodes a protein which binds with glycosaminoglycans to form part of the extracellular matrix. The protein contains thyroglobulin type-1, follistatin-like, and calcium-binding domains, and has glycosaminoglycan attachment sites in the acidic C-terminal region. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
SPON1	chr11	13962689	14267884	+	ENSG00000262655.3	protein_coding	VSGP/F-spondin|f-spondin	11p15.2	spondin 1	Broad expression in gall bladder (RPKM 73.6), urinary bladder (RPKM 33.9) and 16 other tissues
SPON2	chr4	1166932	1208962	-	ENSG00000159674.11	protein_coding	DIL-1|DIL1|M-SPONDIN|MINDIN	4p16.3	spondin 2	Broad expression in prostate (RPKM 48.4), endometrium (RPKM 37.2) and 18 other tissues
SPOP	chr17	49598884	49678234	-	ENSG00000121067.17	protein_coding	BTBD32|NEDMACE|NEDMIDF|NSDVS1|NSDVS2|TEF2	17q21.33	speckle type BTB/POZ protein	This gene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins. In mouse, the encoded protein binds to the putative leucine zipper domain of macroH2A1.2, a variant H2A histone that is enriched on inactivated X chromosomes. The BTB/POZ domain of this protein has been shown in other proteins to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
SPOPL	chr2	138501801	138573547	+	ENSG00000144228.8	protein_coding	BTBD33	2q22.1	speckle type BTB/POZ protein like	Ubiquitous expression in appendix (RPKM 7.5), lymph node (RPKM 7.4) and 25 other tissues
SPOUT1	chr9	128819651	128829821	-	ENSG00000198917.12	protein_coding	C9orf114|CENP-32|CENP32|HSPC109	9q34.11	SPOUT domain containing methyltransferase 1	Ubiquitous expression in prostate (RPKM 7.5), lymph node (RPKM 6.8) and 25 other tissues
SPP1	chr4	87975650	87983426	+	ENSG00000118785.13	protein_coding	BNSP|BSPI|ETA-1|OPN	4q22.1	secreted phosphoprotein 1	The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclast vitronectin receptor is found in the cell membrane and may be involved in the binding to this protein. This protein is also a cytokine that upregulates expression of interferon-gamma and interleukin-12. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
SPP2	chr2	234050679	234077134	+	ENSG00000072080.10	protein_coding	SPP-24|SPP24	2q37.1	secreted phosphoprotein 2	This gene encodes a secreted phosphoprotein that is a member of the cystatin superfamily. [provided by RefSeq, Oct 2008]
SPPL2A	chr15	50702266	50765808	-	ENSG00000138600.9	protein_coding	IMD86|IMP3|PSL2	15q21.2	signal peptide peptidase like 2A	This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012]
SPPL2B	chr19	2328615	2354806	+	ENSG00000005206.16	protein_coding	IMP-4|IMP4|PSH4|PSL1	19p13.3	signal peptide peptidase like 2B	This gene encodes a member of the GXGD family of aspartic proteases. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. This enzyme localizes to endosomes, lysosomes, and the plasma membrane. It cleaves the transmembrane domain of tumor necrosis factor alpha to release the intracellular domain, which triggers cytokine expression in the innate and adaptive immunity pathways. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
SPPL2C	chr17	45844835	45847072	+	ENSG00000185294.6	protein_coding	IMP5	17q21.31	signal peptide peptidase like 2C	-
SPPL3	chr12	120762510	120904371	-	ENSG00000157837.15	protein_coding	IMP2|MDHV1887|PRO4332|PSH1|PSL4	12q24.31	signal peptide peptidase like 3	Ubiquitous expression in skin (RPKM 21.6), testis (RPKM 17.3) and 25 other tissues
SPR	chr2	72887360	72892158	+	ENSG00000116096.5	protein_coding	SDR38C1	2p13.2	sepiapterin reductase	This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]
SPRED1	chr15	38252326	38357249	+	ENSG00000166068.12	protein_coding	LGSS|NFLS|PPP1R147|hSpred1|spred-1	15q14	sprouty related EVH1 domain containing 1	The protein encoded by this gene is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with SPRED2 to regulate activation of the MAP kinase cascade. Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS). [provided by RefSeq, Jul 2008]
SPRED2	chr2	65310851	65432637	-	ENSG00000198369.9	protein_coding	Spred-2	2p14	sprouty related EVH1 domain containing 2	SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM, Mar 2008]
SPRED3	chr19	38388421	38399587	+	ENSG00000188766.12	protein_coding	Eve-3|spred-3	19q13.2	sprouty related EVH1 domain containing 3	This gene encodes a protein with a C-terminal Sprouty-like cysteine-rich domain (SRY) and an N-terminal Ena/Vasodilator-stimulated phosphoprotein (VASP) homology-1 (EVH-1) domain. The encoded protein is a member of a family of proteins that negatively regulates mitogen-activated protein (MAP) kinase signaling, particularly during organogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
SPRING1	chr12	 116710171	116738069	-	ENSG00000111412	protein-coding	C12orf49|LUR1|POST1|SPRING	12q24.22	SREBF pathway regulator in golgi 1	-
SPRN	chr10	133420666	133424572	-	ENSG00000203772.7	protein_coding	SHADOO|SHO|bA108K14.1	10q26.3	shadow of prion protein	Ubiquitous expression in brain (RPKM 10.6), duodenum (RPKM 4.2) and 25 other tissues
SPRR1A	chr1	152985231	152985500	+	ENSG00000169474.4	protein_coding	SPRK	1q21.3	small proline rich protein 1A	Restricted expression toward esophagus (RPKM 829.4)
SPRR1B	chr1	153031202	153032900	+	ENSG00000169469.8	protein_coding	CORNIFIN|GADD33|SPR-IB|SPRR1	1q21.3	small proline rich protein 1B	The protein encoded by this gene is an envelope protein of keratinocytes. The encoded protein is crosslinked to membrane proteins by transglutaminase, forming an insoluble layer under the plasma membrane. This protein is proline-rich and contains several tandem amino acid repeats. [provided by RefSeq, Nov 2015]
SPRR2A	chr1	153056113	153057537	-	ENSG00000241794.1	protein_coding	-	1q21.3	small proline rich protein 2A	Restricted expression toward esophagus (RPKM 1789.3)
SPRR2B	chr1	153070224	153070840	-	ENSG00000196805.7	protein_coding	-	1q21.3	small proline rich protein 2B	-
SPRR2D	chr1	153039725	153041931	-	ENSG00000163216.6	protein_coding	-	1q21.3	small proline rich protein 2D	-
SPRR2E	chr1	153093135	153106184	-	ENSG00000203785.8	protein_coding	-	1q21.3	small proline rich protein 2E	Restricted expression toward esophagus (RPKM 706.9)
SPRR2F	chr1	153112114	153113515	-	ENSG00000244094.1	protein_coding	-	1q21.3	small proline rich protein 2F	-
SPRR2G	chr1	153149582	153150869	-	ENSG00000159516.8	protein_coding	-	1q21.3	small proline rich protein 2G	-
SPRR4	chr1	152970666	152972574	+	ENSG00000184148.3	protein_coding	-	1q21.3	small proline rich protein 4	-
SPRTN	chr1	231337104	231355023	+	ENSG00000010072.15	protein_coding	C1orf124|DVC1|PRO4323|spartan	1q42.2	SprT-like N-terminal domain	The protein encoded by this gene may play a role in DNA repair during replication of damaged DNA. This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations. It may also be involved in replication-related G2/M-checkpoint regulation. Deficiency of a similar protein in mouse causes chromosomal instability and progeroid phenotypes. Mutations in this gene have been associated with Ruijs-Aalfs syndrome (RJALS). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]
SPRY2	chr13	80335976	80340951	-	ENSG00000136158.11	protein_coding	IGAN3|hSPRY2	13q31.1	sprouty RTK signaling antagonist 2	This gene encodes a protein belonging to the sprouty family. The encoded protein contains a carboxyl-terminal cysteine-rich domain essential for the inhibitory activity on receptor tyrosine kinase signaling proteins and is required for growth factor stimulated translocation of the protein to membrane ruffles. In primary dermal endothelial cells this gene is transiently upregulated in response to fibroblast growth factor two. This protein is indirectly involved in the non-cell autonomous inhibitory effect on fibroblast growth factor two signaling. The protein interacts with Cas-Br-M (murine) ectropic retroviral transforming sequence, and can function as a bimodal regulator of epidermal growth factor receptor/mitogen-activated protein kinase signaling. This protein may play a role in alveoli branching during lung development as shown by a similar mouse protein. [provided by RefSeq, Jul 2008]
SPRYD3	chr12	53064316	53079420	-	ENSG00000167778.8	protein_coding	-	12q13.13	SPRY domain containing 3	-
SPRYD4	chr12	56468567	56479707	+	ENSG00000176422.13	protein_coding	-	12q13.3	SPRY domain containing 4	-
SPRYD7	chr13	49912706	49936490	-	ENSG00000123178.14	protein_coding	C13orf1|CLLD6	13q14.2	SPRY domain containing 7	Ubiquitous expression in lung (RPKM 5.0), brain (RPKM 4.9) and 25 other tissues
SPSB1	chr1	9292880	9369532	+	ENSG00000171621.13	protein_coding	SSB-1|SSB1	1p36.22	splA/ryanodine receptor domain and SOCS box containing 1	Ubiquitous expression in endometrium (RPKM 16.9), gall bladder (RPKM 15.1) and 24 other tissues
SPSB2	chr12	6870935	6889358	-	ENSG00000111671.9	protein_coding	GRCC9|SSB2	12p13.31	splA/ryanodine receptor domain and SOCS box containing 2	This gene encodes a member of a subfamily of proteins containing a central SPRY (repeats in splA and RyR) domain and a C-terminal suppressor of cytokine signaling (SOCS) box. This protein plays a role in cell signaling. This gene is present in a gene-rich cluster on chromosome 12p13 in the vicinity of the CD4 antigen and triosephosphate isomerase genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
SPSB3	chr16	1776712	1793700	-	ENSG00000162032.15	protein_coding	C16orf31|SSB3	16p13.3	splA/ryanodine receptor domain and SOCS box containing 3	Ubiquitous expression in skin (RPKM 23.4), spleen (RPKM 22.6) and 25 other tissues
SPTA1	chr1	158610706	158686698	-	ENSG00000163554.12	protein_coding	EL2|HPP|HS3|SPH3|SPTA	1q23.1	spectrin alpha, erythrocytic 1	This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]
SPTB	chr14	64746283	64879883	-	ENSG00000070182.19	protein_coding	EL3|HS2|HSPTB1|SPH2	14q23.3	spectrin beta, erythrocytic	This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
SPTBN1	chr2	54456285	54671445	+	ENSG00000115306.15	protein_coding	DDISBA|ELF|HEL102|SPTB2|betaSpII	2p16.2	spectrin beta, non-erythrocytic 1	Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
SPTBN2	chr11	66685248	66729226	-	ENSG00000173898.11	protein_coding	GTRAP41|SCA5|SCAR14	11q13.2	spectrin beta, non-erythrocytic 2	Spectrins are principle components of a cells membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009]
SPTBN5	chr15	41848144	41894077	-	ENSG00000137877.9	protein_coding	BSPECV|HUBSPECV|HUSPECV	15q15.1	spectrin beta, non-erythrocytic 5	Low expression observed in reference dataset
SPTLC1	chr9	92031999	92115384	-	ENSG00000090054.13	protein_coding	HSAN1|HSN1|LBC1|LCB1|SPT1|SPTI	9q22.31	serine palmitoyltransferase long chain base subunit 1	This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013]
SPTLC1P5	chr13	77659413	77659664	+	ENSG00000227922.1	processed_pseudogene	-	13q22.3	serine palmitoyltransferase long chain base subunit 1 pseudogene 5	-
SPTLC2	chr14	77505997	77616773	-	ENSG00000100596.6	protein_coding	HSN1C|LCB2|LCB2A|NSAN1C|SPT2|hLCB2a	14q24.3	serine palmitoyltransferase long chain base subunit 2	This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]
SPTLC3	chr20	13008979	13169103	+	ENSG00000172296.12	protein_coding	C20orf38|LCB 3|LCB2B|LCB3|SPT 3|SPT3|SPTLC2L|dJ718P11|dJ718P11.1|hLCB2b	20p12.1	serine palmitoyltransferase long chain base subunit 3	This gene encodes a subunit of the serine palmitoyltransferase complex which catalyzes the rate-limiting step in sphingolipid biosynthesis. This subunit metabolizes lauroyl- and myristoyl-CoA and generates C14 and C16-sphingoid bases. [provided by RefSeq, Mar 2017]
SPTSSA	chr14	34432789	34462356	-	ENSG00000165389.6	protein_coding	C14orf147|SSSPTA	14q13.1	serine palmitoyltransferase small subunit A	Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]
SPTSSB	chr3	161344792	161372880	-	ENSG00000196542.8	protein_coding	ADMP|C3orf57|SSSPTB	3q26.1	serine palmitoyltransferase small subunit B	Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTB is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010]
SPTY2D1	chr11	18606401	18634791	-	ENSG00000179119.14	protein_coding	Spt2	11p15.1	SPT2 chromatin protein domain containing 1	Ubiquitous expression in bone marrow (RPKM 18.4), gall bladder (RPKM 8.3) and 25 other tissues
SPTY2D1OS	chr11	 18599789	18609874	+	ENSG00000247595	protein-coding	SPTY2D1-AS1	11p15.1	SPTY2D1 opposite strand	Ubiquitous expression in bone marrow (RPKM 23.1), testis (RPKM 16.4) and 25 other tissues
SPX	chr12	21526307	21537377	+	ENSG00000134548.9	protein_coding	C12orf39	12p12.1	spexin hormone	The protein encoded by this gene is a hormone involved in modulation of cardiovascular and renal function. It has also been shown in rats to cause weight loss. Several transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]
SQLE	chr8	124998497	125022283	+	ENSG00000104549.11	protein_coding	-	8q24.13	squalene epoxidase	Broad expression in testis (RPKM 28.6), esophagus (RPKM 19.3) and 22 other tissues
SQOR	chr15	 45631148	45691281	+	ENSG00000137767	protein-coding	CGI-44|PRO1975|SQR|SQRDL	15q21.1	sulfide quinone oxidoreductase	The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2012]
SQSTM1	chr5	179806398	179838078	+	ENSG00000161011.19	protein_coding	A170|DMRV|FTDALS3|NADGP|OSIL|PDB3|ZIP3|p60|p62|p62B	5q35.3	sequestosome 1	This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [provided by RefSeq, Mar 2009]
SRA1	chr5	140537340	140558252	-	ENSG00000213523.10	protein_coding	SRA|SRAP|STRAA1|pp7684	5q31.3	steroid receptor RNA activator 1	Both long non-coding and protein-coding RNAs are transcribed from this gene, and they represent alternatively spliced transcript variants. This gene was initially defined as a non-coding RNA, which is a coactivator for several nuclear receptors (NRs) and is associated with breast cancer. It has now been found that this gene is involved in the regulation of many NR and non-NR activities, including metabolism, adipogenesis and chromatin organization. The long non-coding RNA transcripts interact with a variety of proteins, including the protein encoded by this gene. The encoded protein acts as a transcriptional repressor by binding to the non-coding RNA. [provided by RefSeq, Mar 2012]
SRARP	chr1	 16004236	16008807	+	ENSG00000183888	protein-coding	C1orf64|ERRF	1p36.13	steroid receptor associated and regulated protein	Enables estrogen receptor binding activity. Involved in positive regulation of intracellular estrogen receptor signaling pathway. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
SRBD1	chr2	45388680	45612165	-	ENSG00000068784.12	protein_coding	-	2p21	S1 RNA binding domain 1	-
SRC	chr20	37344685	37406050	+	ENSG00000197122.11	protein_coding	ASV|SRC1|THC6|c-SRC|p60-Src	20q11.23	SRC proto-oncogene, non-receptor tyrosine kinase	This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibited by phosphorylation by c-SRC kinase. Mutations in this gene could be involved in the malignant progression of colon cancer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
SRCAP	chr16	30698209	30741409	+	ENSG00000080603.16	protein_coding	DOMO1|EAF1|FLHS|SWR1	16p11.2	Snf2 related CREBBP activator protein	This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]
SRCIN1	chr17	38530016	38605930	-	ENSG00000277363.4	protein_coding	P140|SNIP	17q12	SRC kinase signaling inhibitor 1	Biased expression in brain (RPKM 9.1), salivary gland (RPKM 1.2) and 2 other tissues
SRD5A2	chr2	31522480	31581067	-	ENSG00000277893.1	protein_coding	-	2p23.1	steroid 5 alpha-reductase 2	Biased expression in liver (RPKM 13.3), prostate (RPKM 8.5) and 2 other tissues
SRD5A3	chr4	55346109	55373096	+	ENSG00000128039.10	protein_coding	CDG1P|CDG1Q|KRIZI|SRD5A2L|SRD5A2L1	4q12	steroid 5 alpha-reductase 3	The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011]
SRD5A3-AS1	chr4	55363971	55395847	-	ENSG00000249700.8	processed_transcript	-	4q12	SRD5A3 antisense RNA 1	-
SREBF1	chr17	17810399	17837002	-	ENSG00000072310.16	protein_coding	HMD|IFAP2|SREBP1|bHLHd1	17p11.2	sterol regulatory element binding transcription factor 1	This gene encodes a basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a motif that is found in the promoter of the low density lipoprotein receptor gene and other genes involved in sterol biosynthesis. The encoded protein is synthesized as a precursor that is initially attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription. This cleaveage is inhibited by sterols. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative promoter usage and splicing result in multiple transcript variants, including SREBP-1a and SREBP-1c, which correspond to RefSeq transcript variants 2 and 3, respectively. [provided by RefSeq, Nov 2017]
SREBF2	chr22	41833079	41907308	+	ENSG00000198911.11	protein_coding	SREBP-2|SREBP2|bHLHd2	22q13.2	sterol regulatory element binding transcription factor 2	This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
SREK1	chr5	66139971	66183615	+	ENSG00000153914.15	protein_coding	SFRS12|SRrp508|SRrp86	5q12.3	splicing regulatory glutamic acid and lysine rich protein 1	This gene encodes a member of a family of serine/arginine-rich (SR) splicing proteins containing RNA recognition motif (RRM) domains. The encoded protein interacts with other SR proteins to modulate splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]
SREK1IP1	chr5	64718144	64768685	-	ENSG00000153006.15	protein_coding	P18SRP|SFRS12IP1	5q12.3	SREK1 interacting protein 1	Ubiquitous expression in skin (RPKM 4.8), placenta (RPKM 4.5) and 25 other tissues
SRF	chr6	43171299	43181507	+	ENSG00000112658.7	protein_coding	MCM1	6p21.1	serum response factor	This gene encodes a ubiquitous nuclear protein that stimulates both cell proliferation and differentiation. It is a member of the MADS (MCM1, Agamous, Deficiens, and SRF) box superfamily of transcription factors. This protein binds to the serum response element (SRE) in the promoter region of target genes. This protein regulates the activity of many immediate-early genes, for example c-fos, and thereby participates in cell cycle regulation, apoptosis, cell growth, and cell differentiation. This gene is the downstream target of many pathways; for example, the mitogen-activated protein kinase pathway (MAPK) that acts through the ternary complex factors (TCFs). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
SRGAP1	chr12	63844293	64162221	+	ENSG00000196935.8	protein_coding	ARHGAP13|NMTC2	12q14.2	SLIT-ROBO Rho GTPase activating protein 1	The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]
SRGAP2	chr1	206203345	206464443	+	ENSG00000266028.7	protein_coding	ARHGAP34|FNBP2|SRGAP2A|SRGAP3	1q32.1	SLIT-ROBO Rho GTPase activating protein 2	This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The encoded protein stimulates GTPase activity of Rac1, and plays a role in cortical neuron development. This locus has several paralogs on human chromosome 1 resulting from segmental duplication. While this locus itself is conserved among various species, the paralogs are found only in the genus Homo, and not in the genomes of non-human great apes. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Jul 2014]
SRGAP2C	chr1	121184810	121392822	+	ENSG00000171943.11	protein_coding	SRGAP2P1	1p11.2	SLIT-ROBO Rho GTPase activating protein 2C	This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2, and acts antagonistically to these proteins in cortical neuron development. [provided by RefSeq, Dec 2012]
SRGAP3	chr3	8980591	9363053	-	ENSG00000196220.15	protein_coding	ARHGAP14|MEGAP|SRGAP2|WRP	3p25.3	SLIT-ROBO Rho GTPase activating protein 3	Broad expression in brain (RPKM 6.5), urinary bladder (RPKM 1.5) and 16 other tissues
SRGAP3-AS2	chr3	9192493	9194453	+	ENSG00000228723.6	antisense	-	3p25.3	SRGAP3 antisense RNA 2	-
SRGN	chr10	69088106	69104811	+	ENSG00000122862.4	protein_coding	PPG|PRG|PRG1	10q22.1	serglycin	This gene encodes a protein best known as a hematopoietic cell granule proteoglycan. Proteoglycans stored in the secretory granules of many hematopoietic cells also contain a protease-resistant peptide core, which may be important for neutralizing hydrolytic enzymes. This encoded protein was found to be associated with the macromolecular complex of granzymes and perforin, which may serve as a mediator of granule-mediated apoptosis. Two transcript variants, only one of them protein-coding, have been found for this gene. [provided by RefSeq, Jul 2010]
SRI	chr7	88205118	88226993	-	ENSG00000075142.13	protein_coding	CP-22|CP22|SCN|V19	7q21.12	sorcin	This gene encodes a calcium-binding protein with multiple E-F hand domains that relocates from the cytoplasm to the sarcoplasmic reticulum in response to elevated calcium levels. In addition to regulating intracellular calcium homeostasis it also modulates excitation-contraction coupling in the heart. Alternative splicing results in multiple transcript variants encoding distinct proteins. Multiple pseudogenes exist for this gene. [provided by RefSeq, Mar 2012]
SRL	chr16	4189374	4242080	-	ENSG00000185739.13	protein_coding	SAR	16p13.3	sarcalumenin	Biased expression in heart (RPKM 76.3), prostate (RPKM 4.3) and 1 other tissue
SRM	chr1	11054584	11060024	-	ENSG00000116649.9	protein_coding	PAPT|SPDSY|SPS1|SRML1	1p36.22	spermidine synthase	The polyamines putrescine, spermine, and spermidine are ubiquitous polycationic mediators of cell growth and differentiation. Spermidine synthase is one of four enzymes in the polyamine-biosynthetic pathway and carries out the final step of spermidine biosynthesis. This enzyme catalyzes the conversion of putrescine to spermidine using decarboxylated S-adenosylmethionine as the cofactor. [provided by RefSeq, Jul 2008]
SRMS	chr20	63540810	63547504	-	ENSG00000125508.3	protein_coding	C20orf148|PTK70|SRM|dJ697K14.1	20q13.33	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	Broad expression in prostate (RPKM 1.4), stomach (RPKM 1.2) and 15 other tissues
SRP14	chr15	40035739	40039188	-	ENSG00000140319.10	protein_coding	ALURBP	15q15.1	signal recognition particle 14	Ubiquitous expression in endometrium (RPKM 125.3), adrenal (RPKM 118.3) and 25 other tissues
SRP14-DT	chr15	 40039311	40067509	+	ENSG00000248508	ncRNA	SRP14-AS1	15q15.1	SRP14 divergent transcript	-
SRP19	chr5	112861222	112869788	+	ENSG00000153037.13	protein_coding	-	5q22.2	signal recognition particle 19	-
SRP54	chr14	34981957	35029567	+	ENSG00000100883.11	protein_coding	SCN8	14q13.2	signal recognition particle 54	Ubiquitous expression in testis (RPKM 26.2), thyroid (RPKM 18.4) and 25 other tissues
SRP54-AS1	chr14	34920858	34982532	-	ENSG00000258704.6	transcribed_unitary_pseudogene	-	14q13.2	SRP54 antisense RNA 1	-
SRP68	chr17	76038775	76072653	-	ENSG00000167881.14	protein_coding	-	17q25.1	signal recognition particle 68	Ubiquitous expression in thyroid (RPKM 29.4), esophagus (RPKM 22.8) and 25 other tissues
SRP68P3	chr17	20415792	20416697	-	ENSG00000237911.2	unprocessed_pseudogene	SRPSMCR	17p11.2	signal recognition particle 68 pseudogene 3	-
SRP72	chr4	56466915	56503680	+	ENSG00000174780.15	protein_coding	BMFF|BMFS1|HEL103	4q12	signal recognition particle 72	This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein. Mutations in this gene are associated with familial bone marrow failure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]
SRP72P2	chr6	158237336	158242797	-	ENSG00000188451.8	processed_pseudogene	dJ274L14.2	6q25.3	signal recognition particle 72 pseudogene 2	-
SRP9	chr1	225777813	225790466	+	ENSG00000143742.12	protein_coding	ALURBP	1q42.12	signal recognition particle 9	Ubiquitous expression in adrenal (RPKM 131.7), brain (RPKM 102.1) and 25 other tissues
SRPK1	chr6	35832966	35921342	-	ENSG00000096063.15	protein_coding	SFRSK1	6p21.31	SRSF protein kinase 1	This gene encodes a serine/arginine protein kinase specific for the SR (serine/arginine-rich domain) family of splicing factors. The protein localizes to the nucleus and the cytoplasm. It is thought to play a role in regulation of both constitutive and alternative splicing by regulating intracellular localization of splicing factors. Alternative splicing of this gene results in multiple transcript variants. Additional alternatively spliced transcript variants have been described for this gene, but their full length nature have not been determined.[provided by RefSeq, Jul 2010]
SRPK2	chr7	105110704	105399308	-	ENSG00000135250.16	protein_coding	SFRSK2	7q22.3	SRSF protein kinase 2	Broad expression in testis (RPKM 31.3), brain (RPKM 21.9) and 24 other tissues
SRPRA	chr11	126262919	126269144	-	ENSG00000182934.11	protein_coding	DP|SRPR|Sralpha	11q24.2	SRP receptor subunit alpha	The gene encodes a subunit of the endoplasmic reticulum signal recognition particle receptor that, in conjunction with the signal recognition particle, is involved in the targeting and translocation of signal sequence tagged secretory and membrane proteins across the endoplasmic reticulum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
SRPRB	chr3	133784033	133825772	+	ENSG00000144867.11	protein_coding	APMCF1|SR-beta	3q22.1	SRP receptor subunit beta	The protein encoded by this gene has similarity to mouse protein which is a subunit of the signal recognition particle receptor (SR). This subunit is a transmembrane GTPase belonging to the GTPase superfamily. It anchors alpha subunit, a peripheral membrane GTPase, to the ER membrane. SR is required for the cotranslational targeting of both secretory and membrane proteins to the ER membrane. [provided by RefSeq, Jul 2008]
SRR	chr17	2303383	2325260	+	ENSG00000167720.12	protein_coding	ILV1|ISO1	17p13.3	serine racemase	Ubiquitous expression in brain (RPKM 6.5), testis (RPKM 6.3) and 25 other tissues
SRRD	chr22	26483877	26494658	+	ENSG00000100104.13	protein_coding	HC/HCC|SRR1L	22q12.1	SRR1 domain containing	Ubiquitous expression in thyroid (RPKM 8.9), testis (RPKM 8.0) and 25 other tissues
SRRM1	chr1	24631716	24673267	+	ENSG00000133226.16	protein_coding	160-KD|POP101|SRM160	1p36.11	serine and arginine repetitive matrix 1	Ubiquitous expression in ovary (RPKM 22.6), prostate (RPKM 22.3) and 25 other tissues
SRRM2	chr16	2752329	2772538	+	ENSG00000167978.16	protein_coding	300-KD|CWF21|Cwc21|HSPC075|SRL300|SRm300	16p13.3	serine/arginine repetitive matrix 2	Ubiquitous expression in spleen (RPKM 88.4), bone marrow (RPKM 86.9) and 25 other tissues
SRRM2-AS1	chr16	2737076	2752600	-	ENSG00000205913.6	antisense	-	16p13.3	SRRM2 antisense RNA 1	-
SRRM3	chr7	76201900	76287288	+	ENSG00000177679.15	protein_coding	-	7q11.23	serine/arginine repetitive matrix 3	-
SRRM4	chr12	118981495	119163051	+	ENSG00000139767.8	protein_coding	KIAA1853|MU-MB-2.76|nSR100	12q24.23	serine/arginine repetitive matrix 4	SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 [PubMed 19737518]).[supplied by OMIM, Oct 2009]
SRRM5	chr19	43596617	43614497	+	ENSG00000226763.4	protein_coding	ZNF576	19q13.31	serine/arginine repetitive matrix 5	-
SRRT	chr7	100875111	100888664	+	ENSG00000087087.18	protein_coding	ARS2|ASR2|serrate	7q22.1	serrate, RNA effector molecule	Broad expression in testis (RPKM 66.3), bone marrow (RPKM 37.2) and 25 other tissues
SRSF1	chr17	58003360	58007346	-	ENSG00000136450.12	protein_coding	ASF|SF2|SF2p33|SFRS1|SRp30a	17q22	serine and arginine rich splicing factor 1	This gene encodes a member of the arginine/serine-rich splicing factor protein family. The encoded protein can either activate or repress splicing, depending on its phosphorylation state and its interaction partners. Multiple transcript variants have been found for this gene. There is a pseudogene of this gene on chromosome 13. [provided by RefSeq, Jun 2014]
SRSF10	chr1	23964804	23980927	-	ENSG00000188529.14	protein_coding	FUSIP1|FUSIP2|NSSR|PPP1R149|SFRS13|SFRS13A|SRp38|SRrp40|TASR|TASR1|TASR2	1p36.11	serine and arginine rich splicing factor 10	This gene product is a member of the serine-arginine (SR) family of proteins, which are involved in constitutive and regulated RNA splicing. Members of this family are characterized by N-terminal RNP1 and RNP2 motifs, which are required for binding to RNA, and multiple C-terminal SR/RS repeats, which are important in mediating association with other cellular proteins. This protein interacts with the oncoprotein TLS, and abrogates the influence of TLS on adenovirus E1A pre-mRNA splicing. This gene has pseudogenes on chromosomes 4, 9, 14, 18, and 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
SRSF12	chr6	89095959	89118081	-	ENSG00000154548.8	protein_coding	SFRS13B|SFRS19|SRrp35	6q15	serine and arginine rich splicing factor 12	Biased expression in testis (RPKM 7.8), brain (RPKM 2.4) and 6 other tissues
SRSF2	chr17	76734115	76737374	-	ENSG00000161547.16	protein_coding	PR264|SC-35|SC35|SFRS2|SFRS2A|SRp30b	17q25.1	serine and arginine rich splicing factor 2	The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding the same protein and one non-coding transcript variant have been found for this gene. In addition, a pseudogene of this gene has been found on chromosome 11. [provided by RefSeq, Sep 2010]
SRSF3	chr6	36594353	36605600	+	ENSG00000112081.16	protein_coding	SFRS3|SRp20	6p21.31-p21.2	serine and arginine rich splicing factor 3	The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants, one protein-coding and the other non-coding, have been found for this gene. [provided by RefSeq, Sep 2010]
SRSF4	chr1	29147743	29181987	-	ENSG00000116350.16	protein_coding	SFRS4|SRP75	1p35.3	serine and arginine rich splicing factor 4	This gene encodes a member of the arginine/serine-rich splicing factor family. The encoded protein likely functions in mRNA processing. [provided by RefSeq, Feb 2009]
SRSF5	chr14	69726900	69772005	+	ENSG00000100650.15	protein_coding	HRS|SFRS5|SRP40	14q24.1	serine and arginine rich splicing factor 5	The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
SRSF7	chr2	38743599	38751494	-	ENSG00000115875.18	protein_coding	9G8|AAG3|SFRS7	2p22.1	serine and arginine rich splicing factor 7	The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an N-terminal RNA recognition motif (RRM) for binding RNA and a C-terminal RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2018]
SRSF8	chr11	95067197	95071224	+	ENSG00000263465.4	protein_coding	DSM-1|SFRS2B|SRP46	11q21	serine and arginine rich splicing factor 8	This gene encodes a member of a family of proteins containing a ribonucleoprotein (RNP)-type RNA binding motif and a carboxyl-terminal arginine-serine-rich (RS) domain. The encoded protein functions as a pre-mRNA splicing factor. There is a pseudogene for this gene on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
SRSF9	chr12	120461668	120469793	-	ENSG00000111786.8	protein_coding	SFRS9|SRp30c	12q24.31	serine and arginine rich splicing factor 9	The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two pseudogenes, one on chromosome 15 and the other on chromosome 21, have been found for this gene. [provided by RefSeq, Sep 2010]
SRSF9P1	chr21	36295173	36295702	-	ENSG00000214867.3	processed_pseudogene	SFRS9P1	21q22.12	serine and arginine rich splicing factor 9 pseudogene 1	-
SRXN1	chr20	646615	653370	-	ENSG00000271303.1	protein_coding	C20orf139|Npn3|SRX|SRX1	20p13	sulfiredoxin 1	Ubiquitous expression in adrenal (RPKM 21.6), esophagus (RPKM 17.3) and 25 other tissues
SS18	chr18	26016253	26091217	-	ENSG00000141380.13	protein_coding	SMARCL1|SSXT|SYT	18q11.2	SS18 subunit of BAF chromatin remodeling complex	Ubiquitous expression in thyroid (RPKM 26.0), adrenal (RPKM 22.3) and 25 other tissues
SS18L2	chr3	42581840	42595114	+	ENSG00000008324.11	protein_coding	KIAA-iso	3p22.1	SS18 like 2	Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene (MIM 600192) is fused in-frame to the 3-prime end of the SSX1 (MIM 312820), SSX2 (MIM 300192), or SSX4 (MIM 300326) gene. The SS18L2 gene is homologous to SS18.[supplied by OMIM, Jul 2002]
SSB	chr2	169791933	169812064	+	ENSG00000138385.15	protein_coding	LARP3|La|La/SSB	2q31.1	small RNA binding exonuclease protection factor La	The protein encoded by this gene is involved in diverse aspects of RNA metabolism, including binding and protecting poly(U) termini of nascent RNA polymerase III transcripts from exonuclease digestion, processing 5 and 3 ends of pre-tRNA precursors, acting as an RNA chaperone, and binding viral RNAs associated with hepatitis C virus. Autoantibodies reacting with this protein are found in the sera of patients with Sjogren syndrome and systemic lupus erythematosus. Alternative promoter usage results in two different transcript variants which encode the same protein. [provided by RefSeq, Jun 2014]
SSBP2	chr5	81413021	81751797	-	ENSG00000145687.16	protein_coding	HSPC116|SOSS-B2	5q14.1	single stranded DNA binding protein 2	This gene encodes a subunit of a protein complex that interacts with single-stranded DNA and is involved in the DNA damage response and maintenance of genome stability. The encoded protein may also play a role in telomere repair. A variant of this gene may be associated with survival in human glioblastoma patients. [provided by RefSeq, Sep 2016]
SSBP3	chr1	54225432	54413479	-	ENSG00000157216.15	protein_coding	CSDP|SSDP|SSDP1	1p32.3	single stranded DNA binding protein 3	Ubiquitous expression in ovary (RPKM 35.7), brain (RPKM 22.6) and 24 other tissues
SSBP3-AS1	chr1	54236440	54239063	+	ENSG00000198711.5	antisense	C1orf191|MST128|MSTP128	1p32.3	SSBP3 antisense RNA 1	Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
SSBP4	chr19	18418864	18434562	+	ENSG00000130511.15	protein_coding	-	19p13.11	single stranded DNA binding protein 4	-
SSC4D	chr7	76389334	76409695	-	ENSG00000146700.8	protein_coding	S4D-SRCRB|SRCRB-S4D|SRCRB4D	7q11.23	scavenger receptor cysteine rich family member with 4 domains	The scavenger receptor cysteine-rich (SRCR) superfamily is an ancient and highly conserved group of cell surface and/or secreted proteins, some of which are involved in the development of the immune system and the regulation of both innate and adaptive immune responses. Group B SRCR domains usually contain 8 regularly spaced cysteines that give rise to a well-defined intradomain disulfide-bond pattern.[supplied by OMIM, Apr 2004]
SSC5D	chr19	55488404	55519098	+	ENSG00000179954.15	protein_coding	S5D-SRCRB	19q13.42	scavenger receptor cysteine rich family member with 5 domains	Broad expression in gall bladder (RPKM 7.3), endometrium (RPKM 6.2) and 21 other tissues
SSH1	chr12	108778192	108857590	-	ENSG00000084112.14	protein_coding	SSH1L	12q24.11	slingshot protein phosphatase 1	The protein encoded by this gene belongs to the slingshot homolog (SSH) family of phosphatases, which regulate actin filament dynamics. The SSH proteins dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Cofilin is inactivated by kinases such as LIM domain kinase-1 (LIMK1), which may also be dephosphorylated and inactivated by SSH proteins. The SSH family thus appears to play a role in actin dynamics by reactivating cofilin proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
SSH2	chr17	29625938	29930276	-	ENSG00000141298.17	protein_coding	SSH-2|SSH-2L	17q11.2	slingshot protein phosphatase 2	This gene encodes a protein tyrosine phosphatase that plays a key role in the regulation of actin filaments. The encoded protein dephosphorylates and activates cofilin, which promotes actin filament depolymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
SSH3	chr11	67303448	67312607	+	ENSG00000172830.12	protein_coding	SSH3L	11q13.2	slingshot protein phosphatase 3	The ADF (actin-depolymerizing factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated by kinases such as LIM domain kinase-1 (LIMK1; MIM 601329). The SSH family appears to play a role in actin dynamics by reactivating ADF/cofilin proteins in vivo (Niwa et al., 2002 [PubMed 11832213]).[supplied by OMIM, Mar 2008]
SSNA1	chr9	137188647	137190370	+	ENSG00000176101.11	protein_coding	N14|NA-14|NA14	9q34.3	SS nuclear autoantigen 1	Ubiquitous expression in testis (RPKM 42.7), kidney (RPKM 20.7) and 25 other tissues
SSPN	chr12	26121991	26299290	+	ENSG00000123096.11	protein_coding	DAGA5|KRAG|NSPN|SPN1|SPN2	12p12.1	sarcospan	This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Two alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]
SSPOP	chr7	 149776042	149833965	+	ENSG00000197558	pseudogene	SSPO	7q36.1	SCO-spondin, pseudogene	-
SSR1	chr6	7268306	7347446	-	ENSG00000124783.12	protein_coding	TRAPA	6p24.3	signal sequence receptor subunit 1	The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein encoded by this gene and a 22-kD glycoprotein. This gene generates several mRNA species as a result of complex alternative polyadenylation. This gene is unusual in that it utilizes arrays of polyA signal sequences that are mostly non-canonical. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
SSR2	chr1	156009048	156020959	-	ENSG00000163479.13	protein_coding	HSD25|TLAP|TRAP-BETA|TRAPB	1q22	signal sequence receptor subunit 2	The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein (alpha-SSR or SSR1) and a 22-kD glycoprotein (beta-SSR or SSR2). The human beta-signal sequence receptor gene (SSR2) maps to chromosome bands 1q21-q23. [provided by RefSeq, Jul 2008]
SSR3	chr3	156540140	156555184	-	ENSG00000114850.6	protein_coding	TRAPG	3q25.31	signal sequence receptor subunit 3	The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR is comprised of four membrane proteins/subunits: alpha, beta, gamma, and delta. The first two are glycosylated subunits and the latter two are non-glycosylated subunits. This gene encodes the gamma subunit, which is predicted to span the membrane four times. [provided by RefSeq, Aug 2010]
SSR4P1	chr21	45070952	45074165	-	ENSG00000235374.2	transcribed_processed_pseudogene	C21orf122|PRED57|PRED90	21q22.3	signal sequence receptor subunit 4 pseudogene 1	-
SSRP1	chr11	57325985	57335877	-	ENSG00000149136.8	protein_coding	FACT|FACT80|T160	11q12.1	structure specific recognition protein 1	The protein encoded by this gene is a subunit of a heterodimer that, along with SUPT16H, forms chromatin transcriptional elongation factor FACT. FACT interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT and cisplatin-damaged DNA may be crucial to the anticancer mechanism of cisplatin. This encoded protein contains a high mobility group box which most likely constitutes the structure recognition element for cisplatin-modified DNA. This protein also functions as a co-activator of the transcriptional activator p63. An alternatively spliced transcript variant of this gene has been described, but its full-length nature is not known. [provided by RefSeq, Jul 2008]
SST	chr3	187668906	187670399	-	ENSG00000157005.3	protein_coding	SMST|SST1	3q27.3	somatostatin	The hormone somatostatin has active 14 aa and 28 aa forms that are produced by alternate cleavage of the single preproprotein encoded by this gene. Somatostatin is expressed throughout the body and inhibits the release of numerous secondary hormones by binding to high-affinity G-protein-coupled somatostatin receptors. This hormone is an important regulator of the endocrine system through its interactions with pituitary growth hormone, thyroid stimulating hormone, and most hormones of the gastrointestinal tract. Somatostatin also affects rates of neurotransmission in the central nervous system and proliferation of both normal and tumorigenic cells. [provided by RefSeq, Jul 2008]
SSTR5	chr16	1078781	1080142	+	ENSG00000162009.8	protein_coding	SS-5-R	16p13.3	somatostatin receptor 5	Somatostatin and its related peptide cortistatin exert multiple biological actions on normal and tumoral tissue targets by interacting with somatostatin receptors (SSTRs). The protein encoded by this gene is one of the SSTRs, which is a multi-pass membrane protein and belongs to the G-protein coupled receptor 1 family. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase, and different regions of this receptor molecule are required for the activation of different signaling pathways. A mutation in this gene results in somatostatin analog resistance. Alternatively spliced transcript variants have been identified in this gene.[provided by RefSeq, Feb 2010]
SSTR5-AS1	chr16	1064093	1078731	-	ENSG00000261713.6	processed_transcript	-	16p13.3	SSTR5 antisense RNA 1	-
SSU72	chr1	1541673	1574869	-	ENSG00000160075.11	protein_coding	HSPC182|PNAS-120	1p36.33	SSU72 homolog, RNA polymerase II CTD phosphatase	Ubiquitous expression in thyroid (RPKM 50.5), fat (RPKM 49.2) and 25 other tissues
SSXP10	chr6	118589070	118589634	+	ENSG00000217330.1	processed_pseudogene	psiSSX10	6q22.31	SSX family pseudogene 10	-
ST13	chr22	40824535	40857022	-	ENSG00000100380.13	protein_coding	AAG2|FAM10A1|FAM10A4|HIP|HOP|HSPABP|HSPABP1|P48|PRO0786|SNC6	22q13.2	ST13 Hsp70 interacting protein	The protein encoded by this gene is an adaptor protein that mediates the association of the heat shock proteins HSP70 and HSP90. This protein has been shown to be involved in the assembly process of glucocorticoid receptor, which requires the assistance of multiple molecular chaperones. The expression of this gene is reported to be downregulated in colorectal carcinoma tissue suggesting that it is a candidate tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
ST13P19	chr1	210265636	210267241	-	ENSG00000228110.4	processed_pseudogene	-	1q32.2	ST13, Hsp70 interacting protein pseudogene 19	-
ST13P4	chr13	50172089	50173181	+	ENSG00000232150.3	processed_pseudogene	FAM10A4|FAM10A4P	13q14.2	ST13, Hsp70 interacting protein pseudogene 4	Predicted to enable heat shock protein binding activity. Predicted to be involved in chaperone cofactor-dependent protein refolding and protein-containing complex assembly. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
ST13P5	chr11	18261982	18263091	+	ENSG00000212789.4	processed_pseudogene	FAM10A5	11p15.1	ST13, Hsp70 interacting protein pseudogene 5	Predicted to enable heat shock protein binding activity. Predicted to be involved in chaperone cofactor-dependent protein refolding and protein-containing complex assembly. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
ST14	chr11	130159562	130210376	+	ENSG00000149418.10	protein_coding	ARCI11|CAP3|HAI|MT-SP1|MTSP1|PRSS14|SNC19|TADG15|TMPRSS14	11q24.3	ST14 transmembrane serine protease matriptase	The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be activated by sphingosine 1-phosphate. This protease has been shown to cleave and activate hepatocyte growth factor/scattering factor, and urokinase plasminogen activator, which suggest the function of this protease as an epithelial membrane activator for other proteases and latent growth factors. The expression of this protease has been associated with breast, colon, prostate, and ovarian tumors, which implicates its role in cancer invasion, and metastasis. [provided by RefSeq, Jul 2008]
ST18	chr8	52110839	52460959	-	ENSG00000147488.11	protein_coding	NZF-3|NZF3|ZC2H2C3|ZC2HC10|ZNF387	8q11.23	ST18 C2H2C-type zinc finger transcription factor	Biased expression in brain (RPKM 3.7), stomach (RPKM 0.7) and 3 other tissues
ST20	chr15	79898840	79923702	-	ENSG00000180953.11	protein_coding	HCCS-1	15q25.1	suppressor of tumorigenicity 20	Ubiquitous expression in prostate (RPKM 2.1), appendix (RPKM 2.1) and 24 other tissues
ST20-AS1	chr15	79922771	79926993	+	ENSG00000259642.2	antisense	C15orf37	15q25.1	ST20 antisense RNA 1	-
ST3GAL1	chr8	133454848	133571940	-	ENSG00000008513.14	protein_coding	Gal-NAc6S|SIAT4A|SIATFL|ST3GalA|ST3GalA.1|ST3GalIA|ST3GalIA,1|ST3O	8q24.22	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. Correct glycosylation of the encoded protein may be critical to its sialyltransferase activity. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4B. Two transcript variants encoding the same protein have been found for this gene. Other transcript variants may exist, but have not been fully characterized yet. [provided by RefSeq, Jul 2008]
ST3GAL2	chr16	70375978	70439237	-	ENSG00000157350.12	protein_coding	Gal-NAc6S|SIAT4B|ST3GALII|ST3GalA.2	16q22.1	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi but can be proteolytically processed to a soluble form. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4A. [provided by RefSeq, Jul 2008]
ST3GAL3	chr1	43705824	43931165	+	ENSG00000126091.19	protein_coding	DEE15|EIEE15|MRT12|SIAT6|ST3GALII|ST3Gal III|ST3GalIII|ST3N	1p34.1	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with a form of autosomal recessive nonsymdromic cognitive disability as well as infantile epileptic encephalopathy. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
ST3GAL4	chr11	126355640	126440344	+	ENSG00000110080.18	protein_coding	CGS23|NANTA3|SAT3|SIAT4|SIAT4C|ST-4|ST3GalA.2|ST3GalIV|STZ|gal-NAc6S	11q24.2	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	This gene encodes a member of the glycosyltransferase 29 family, a group of enzymes involved in protein glycosylation. The encoded protein is targeted to Golgi membranes but may be proteolytically processed and secreted. The gene product may also be involved in the increased expression of sialyl Lewis X antigen seen in inflammatory responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
ST3GAL5	chr2	85837120	85905199	-	ENSG00000115525.17	protein_coding	SATI|SIAT9|SIATGM3S|SPDRS|ST3Gal V|ST3GalV	2p11.2	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ST3GAL6	chr3	98732236	98821201	+	ENSG00000064225.12	protein_coding	SIAT10|ST3GALVI	3q12.1	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	The protein encoded by this gene is a member of the sialyltransferase family. Members of this family are enzymes that transfer sialic acid from the activated cytidine 5-monophospho-N-acetylneuraminic acid to terminal positions on sialylated glycolipids (gangliosides) or to the N- or O-linked sugar chains of glycoproteins. This protein has high specificity for neolactotetraosylceramide and neolactohexaosylceramide as glycolipid substrates and may contribute to the formation of selectin ligands and sialyl Lewis X, a carbohydrate important for cell-to-cell recognition and a blood group antigen. [provided by RefSeq, Apr 2016]
ST3GAL6-AS1	chr3	98714330	98732651	-	ENSG00000239445.5	antisense	-	3q12.1	ST3GAL6 antisense RNA 1	-
ST6GAL1	chr3	186930485	187078553	+	ENSG00000073849.14	protein_coding	SIAT1|ST6GalI|ST6N	3q27.3	ST6 beta-galactoside alpha-2,6-sialyltransferase 1	This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]
ST6GAL2	chr2	106801600	106887108	-	ENSG00000144057.15	protein_coding	SIAT2|ST6GalII	2q12.3	ST6 beta-galactoside alpha-2,6-sialyltransferase 2	This locus encodes a sialyltransferase. The encoded type II transmembrane protein catalyzes the transfer of sialic acid from CMP to an oligosaccharide substrate. Polymorphisms at this locus may be associated with variations in risperidone response in schizophrenic patients. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
ST6GALNAC1	chr17	76624761	76643838	-	ENSG00000070526.14	protein_coding	HSY11339|SIAT7A|ST6GalNAcI|STYI	17q25.1	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM, Mar 2008]
ST6GALNAC2	chr17	76565379	76586956	-	ENSG00000070731.10	protein_coding	SAITL1|SIAT7|SIAT7B|SIATL1|ST6GalNAII|STHM	17q25.1	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	ST6GALNAC2 belongs to a family of sialyltransferases that add sialic acids to the nonreducing ends of glycoconjugates. At the cell surface, these modifications have roles in cell-cell and cell-substrate interactions, bacterial adhesion, and protein targeting (Samyn-Petit et al., 2000 [PubMed 10742600]).[supplied by OMIM, Mar 2008]
ST6GALNAC3	chr1	76074719	76634601	+	ENSG00000184005.10	protein_coding	PRO7177|SIAT7C|ST6GALNACIII|STY	1p31.1	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	ST6GALNAC3 belongs to a family of sialyltransferases that transfer sialic acids from CMP-sialic acid to terminal positions of carbohydrate groups in glycoproteins and glycolipids (Lee et al., 1999 [PubMed 10207017]).[supplied by OMIM, Mar 2008]
ST6GALNAC4	chr9	127907886	127917038	-	ENSG00000136840.18	protein_coding	IV|SIAT3-C|SIAT3C|SIAT7-D|SIAT7D|ST6GALNACIV|ST6GalNAc	9q34.11	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein prefers glycoproteins rather than glycolipids as substrates and shows restricted substrate specificity, utilizing only the trisaccharide sequence Neu5Ac-alpha-2,3-Gal-beta-1,3-GalNAc. In addition, it is involved in the synthesis of ganglioside GD1A from GM1B. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ST6GALNAC4P1	chr13	19818121	19818619	-	ENSG00000233469.1	processed_pseudogene	-	13q12.11	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 pseudogene 1	-
ST6GALNAC5	chr1	76867441	77065711	+	ENSG00000117069.14	protein_coding	SIAT7-E|SIAT7E|ST6GalNAcV	1p31.1	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	The protein encoded by this gene is a Golgi type II transmembrane glycosyltransferase. The encoded protein catalyzes the transfer of sialic acid to cell surface proteins to modulate cell-cell interactions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
ST6GALNAC6	chr9	127885321	127905408	-	ENSG00000160408.14	protein_coding	SIAT7-F|SIAT7F|ST6GALNACVI	9q34.11	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	ST6GALNAC6 belongs to a family of sialyltransferases that modify proteins and ceramides on the cell surface to alter cell-cell or cell-extracellular matrix interactions (Tsuchida et al., 2003 [PubMed 12668675]).[supplied by OMIM, Mar 2008]
ST7	chr7	116953238	117230103	+	ENSG00000004866.20	protein_coding	ETS7q|FAM4A|FAM4A1|HELG|RAY1|SEN4|TSG7	7q31.2	suppression of tumorigenicity 7	The gene for this product maps to a region on chromosome 7 identified as an autism-susceptibility locus. Mutation screening of the entire coding region in autistic individuals failed to identify phenotype-specific variants, suggesting that coding mutations for this gene are unlikely to be involved in the etiology of autism. The function of this gene product has not been determined. Transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008]
ST7-AS1	chr7	116952446	116954334	-	ENSG00000227199.1	antisense	ST7AS1|ST7OT1	7q31.2	ST7 antisense RNA 1	-
ST7L	chr1	112523518	112620825	-	ENSG00000007341.18	protein_coding	FAM4B|ST7R|STLR	1p13.2	suppression of tumorigenicity 7 like	This gene was identified by its similarity to the ST7 tumor suppressor gene found in the chromosome 7q31 region. This gene is clustered in a tail-to-tail manner with the WNT2B gene in a chromosomal region known to be deleted and rearranged in a variety of cancers. Several transcript variants encoding many different isoforms have been described, but some have not been fully characterized. [provided by RefSeq, Feb 2011]
ST8SIA1	chr12	22063773	22437041	-	ENSG00000111728.10	protein_coding	GD3S|SIAT8|SIAT8-A|SIAT8A|ST8SiaI	12p12.1	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2015]
ST8SIA3	chr18	57350813	57371731	+	ENSG00000177511.5	protein_coding	SIAT8C|ST8SiaIII	18q21.31	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	ST8SIA3 belongs to a family of sialyltransferases that form sialyl-alpha-2,8-sialyl-R linkages at the nonreducing termini of glycoconjugates (Lee et al., 1998 [PubMed 9826427]).[supplied by OMIM, Mar 2008]
ST8SIA4	chr5	100806935	100903266	-	ENSG00000113532.12	protein_coding	PST|PST1|SIAT8D|ST8SIA-IV	5q21.1	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ST8SIA5	chr18	46667821	46759257	-	ENSG00000101638.13	protein_coding	SIAT8-E|SIAT8E|ST8SiaV	18q21.1	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. [provided by RefSeq, Jul 2008]
STAB1	chr3	52495338	52524495	+	ENSG00000010327.10	protein_coding	CLEVER-1|FEEL-1|FEEL1|FELE-1|FEX1|SCARH2|STAB-1	3p21.1	stabilin 1	This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 16 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to endocytose ligands such as low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein rapidly cycles between the plasma membrane and early endosomes. [provided by RefSeq, Jul 2008]
STAB2	chr12	103587273	103766727	+	ENSG00000136011.14	protein_coding	FEEL2|FELE-2|FELL2|FEX2|HARE|SCARH1	12q23.3	stabilin 2	This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes. [provided by RefSeq, Jul 2008]
STAC	chr3	36380344	36548007	+	ENSG00000144681.10	protein_coding	STAC1	3p22.3-p22.2	SH3 and cysteine rich domain	Biased expression in prostate (RPKM 5.7), lung (RPKM 4.4) and 11 other tissues
STAC2	chr17	39210536	39225872	-	ENSG00000141750.6	protein_coding	24b2|24b2/STAC2	17q12	SH3 and cysteine rich domain 2	This gene encodes a protein containing an SH3 domain and a zinc finger domain. The encoded protein has been shown to regulate calcium channel inactivation in a human cell line. Reduced expression of this gene has been observed in human heart failure. [provided by RefSeq, May 2017]
STAC3	chr12	57243453	57251193	-	ENSG00000185482.7	protein_coding	MYPBB|NAM	12q13.3	SH3 and cysteine rich domain 3	The protein encoded by this gene is a component of the excitation-contraction coupling machinery of muscles. This protein is a member of the Stac gene family and contains an N-terminal cysteine-rich domain and two SH3 domains. Mutations in this gene are a cause of Native American myopathy. [provided by RefSeq, Nov 2013]
STAG1	chr3	136336233	136752403	-	ENSG00000118007.12	protein_coding	MRD47|SA1|SCC3A	3q22.3	stromal antigen 1	This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase. [provided by RefSeq, Jul 2008]
STAG2	chrX	123960212	124422664	+	ENSG00000101972.18	protein_coding	HPE13|MKMS|NEDXCF|SA-2|SA2|SCC3B|bA517O1.1	Xq25	stromal antigen 2	The protein encoded by this gene is a subunit of the cohesin complex, which regulates the separation of sister chromatids during cell division. Targeted inactivation of this gene results in chromatid cohesion defects and aneuploidy, suggesting that genetic disruption of cohesin is a cause of aneuploidy in human cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
STAG3	chr7	100177563	100221488	+	ENSG00000066923.17	protein_coding	-	7q22.1	stromal antigen 3	Biased expression in testis (RPKM 44.6), brain (RPKM 6.1) and 2 other tissues
STAG3L1	chr7	75359194	75395383	+	ENSG00000205583.13	transcribed_unprocessed_pseudogene	STAG3L1P|STAG3L2|STAG3L3	7q11.23	stromal antigen 3-like 1 (pseudogene)	-
STAG3L2	chr7	74882163	74890610	-	ENSG00000277072.4	transcribed_unprocessed_pseudogene	STAG3L1|STAG3L2P|STAG3L3	7q11.23	stromal antigen 3-like 2 (pseudogene)	-
STAG3L3	chr7	72969696	73005922	-	ENSG00000174353.17	transcribed_unprocessed_pseudogene	STAG3L1|STAG3L2|STAG3L3P	7q11.23	stromal antigen 3-like 3 (pseudogene)	-
STAG3L5P	chr7	100336079	100351900	+	ENSG00000242294.6	transcribed_unprocessed_pseudogene	-	7q22.1	stromal antigen 3-like 5 pseudogene	-
STAG3L5P-PVRIG2P-PILRB	chr7	100336104	100367831	+	ENSG00000272752.6	processed_transcript	FDFACT|LOC101735302-LOC101752334-PILRB|PILRB	7q22.1	STAG3L5P-PVRIG2P-PILRB readthrough	This locus represents naturally occurring readthrough transcription among the neighboring LOC101735302 (stromal antigen 3 pseudogene), LOC101752334 (poliovirus receptor related immunoglobulin domain containing pseudogene) and PILRB (paired immunoglobin-like type 2 receptor beta) genes on chromosome 7. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Jun 2013]
STAM	chr10	17644125	17715914	+	ENSG00000136738.14	protein_coding	STAM-1|STAM1	10p12.33	signal transducing adaptor molecule	This gene encodes a member of the signal-transducing adaptor molecule family. These proteins mediate downstream signaling of cytokine receptors and also play a role in ER to Golgi trafficking by interacting with the coat protein II complex. The encoded protein also associates with hepatocyte growth factor-regulated substrate to form the endosomal sorting complex required for transport-0 (ESCRT-0), which sorts ubiquitinated membrane proteins to the ESCRT-1 complex for lysosomal degradation. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
STAM2	chr2	152116801	152175992	-	ENSG00000115145.9	protein_coding	Hbp|STAM2A|STAM2B	2q23.3	signal transducing adaptor molecule 2	The protein encoded by this gene is closely related to STAM, an adaptor protein involved in the downstream signaling of cytokine receptors, both of which contain a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). Similar to STAM, this protein acts downstream of JAK kinases, and is phosphorylated in response to cytokine stimulation. This protein and STAM thus are thought to exhibit compensatory effects on the signaling pathway downstream of JAK kinases upon cytokine stimulation. [provided by RefSeq, Jul 2008]
STAMBP	chr2	73828916	73873659	+	ENSG00000124356.15	protein_coding	AMSH|MICCAP	2p13.1	STAM binding protein	Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such signal-transducing adaptor molecule contains an SH3 domain that is required for induction of MYC and cell growth. The protein encoded by this gene binds to the SH3 domain of the signal-transducing adaptor molecule, and plays a critical role in cytokine-mediated signaling for MYC induction and cell cycle progression. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]
STAMBPL1	chr10	88879734	88975153	+	ENSG00000138134.11	protein_coding	ALMalpha|AMSH-FP|AMSH-LP|bA399O19.2	10q23.31	STAM binding protein like 1	Broad expression in adrenal (RPKM 7.5), testis (RPKM 6.2) and 22 other tissues
STAP1	chr4	67558728	67607337	+	ENSG00000035720.7	protein_coding	BRDG1|STAP-1	4q13.2	signal transducing adaptor family member 1	The protein encoded by this gene contains a proline-rich region, a pleckstrin homology (PH) domain, and a region in the carboxy terminal half with similarity to the Src Homology 2 (SH2) domain. This protein is a substrate of tyrosine-protein kinase Tec, and its interaction with tyrosine-protein kinase Tec is phosphorylation-dependent. This protein is thought to participate in a positive feedback loop by upregulating the activity of tyrosine-protein kinase Tec. Variants of this gene have been associated with autosomal-dominant hypercholesterolemia (ADH), which is characterized by elevated low-density lipoprotein cholesterol levels and in increased risk of coronary vascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
STAP2	chr19	4324043	4342786	-	ENSG00000178078.11	protein_coding	BKS	19p13.3	signal transducing adaptor family member 2	This gene encodes the substrate of breast tumor kinase, an Src-type non-receptor tyrosine kinase. The encoded protein possesses domains and several tyrosine phosphorylation sites characteristic of adaptor proteins that mediate the interactions linking proteins involved in signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
STAR	chr8	38143649	38151265	-	ENSG00000147465.11	protein_coding	STARD1	8p11.23	steroidogenic acute regulatory protein	The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jul 2008]
STARD10	chr11	72754729	72794168	-	ENSG00000214530.8	protein_coding	CGI-52|NY-CO-28|PCTP2|SDCCAG28	11q13.4	StAR related lipid transfer domain containing 10	Broad expression in liver (RPKM 47.9), stomach (RPKM 44.9) and 23 other tissues
STARD13	chr13	33103135	33350630	-	ENSG00000133121.20	protein_coding	ARHGAP37|DLC2|GT650|LINC00464	13q13.1-q13.2	StAR related lipid transfer domain containing 13	This gene encodes a protein which contains an N-terminal sterile alpha motif (SAM) for protein-protein interactions, followed by an ATP/GTP-binding motif, a GTPase-activating protein (GAP) domain, and a C-terminal STAR-related lipid transfer (START) domain. It may be involved in regulation of cytoskeletal reorganization, cell proliferation, and cell motility, and acts as a tumor suppressor in hepatoma cells. The gene is located in a region of chromosome 13 that is associated with loss of heterozygosity in hepatocellular carcinomas. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
STARD13-AS	chr13	33180401	33281584	+	ENSG00000236581.8	processed_transcript	STARD13-AS2	13q13.1	STARD13 antisense RNA	Biased expression in testis (RPKM 5.8) and kidney (RPKM 0.6)
STARD3	chr17	39637065	39663484	+	ENSG00000131748.15	protein_coding	CAB1|MLN64|es64	17q12	StAR related lipid transfer domain containing 3	This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late endosomes and may be involved in exporting cholesterol. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
STARD3NL	chr7	38178222	38230671	+	ENSG00000010270.13	protein_coding	MENTHO	7p14.1	STARD3 N-terminal like	This gene encodes a late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol transport through interactions with metastatic lymph node protein 64 (MLN64). [provided by RefSeq, Sep 2011]
STARD4	chr5	111496033	111512590	-	ENSG00000164211.12	protein_coding	-	5q22.1	StAR related lipid transfer domain containing 4	Ubiquitous expression in duodenum (RPKM 9.8), small intestine (RPKM 9.3) and 22 other tissues
STARD4-AS1	chr5	111512226	111739726	+	ENSG00000246859.2	antisense	-	5q22.1	STARD4 antisense RNA 1	-
STARD5	chr15	81309053	81324183	-	ENSG00000172345.13	protein_coding	-	15q25.1	StAR related lipid transfer domain containing 5	Ubiquitous expression in skin (RPKM 22.1), spleen (RPKM 14.8) and 23 other tissues
STARD6	chr18	54324358	54357964	-	ENSG00000174448.8	protein_coding	-	18q21.2	StAR related lipid transfer domain containing 6	Restricted expression toward testis (RPKM 7.1)
STARD7	chr2	96184859	96208825	-	ENSG00000084090.13	protein_coding	FAME2|GTT1	2q11.2	StAR related lipid transfer domain containing 7	Ubiquitous expression in kidney (RPKM 46.9), brain (RPKM 44.7) and 25 other tissues
STARD9	chr15	42575659	42720981	+	ENSG00000159433.11	protein_coding	KIF16A	15q15.2	StAR related lipid transfer domain containing 9	Broad expression in testis (RPKM 7.1), ovary (RPKM 3.6) and 22 other tissues
STAT1	chr2	190964358	191020960	-	ENSG00000115415.18	protein_coding	CANDF7|IMD31A|IMD31B|IMD31C|ISGF-3|STAT91	2q32.2	signal transducer and activator of transcription 1	The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. The protein encoded by this gene can be activated by various ligands including interferon-alpha, interferon-gamma, EGF, PDGF and IL6. This protein mediates the expression of a variety of genes, which is thought to be important for cell viability in response to different cell stimuli and pathogens. The protein plays an important role in immune responses to viral, fungal and mycobacterial pathogens. Mutations in this gene are associated with Immunodeficiency 31B, 31A, and 31C. [provided by RefSeq, Jun 2020]
STAT2	chr12	56341597	56360155	-	ENSG00000170581.13	protein_coding	IMD44|ISGF-3|P113|PTORCH3|STAT113	12q13.3	signal transducer and activator of transcription 2	The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. The protein mediates innate antiviral activity. Mutations in this gene result in Immunodeficiency 44. [provided by RefSeq, Aug 2020]
STAT3	chr17	42313324	42388568	-	ENSG00000168610.14	protein_coding	ADMIO|ADMIO1|APRF|HIES	17q21.2	signal transducer and activator of transcription 3	The protein encoded by this gene is a member of the STAT protein family. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated through phosphorylation in response to various cytokines and growth factors including IFNs, EGF, IL5, IL6, HGF, LIF and BMP2. This protein mediates the expression of a variety of genes in response to cell stimuli, and thus plays a key role in many cellular processes such as cell growth and apoptosis. The small GTPase Rac1 has been shown to bind and regulate the activity of this protein. PIAS3 protein is a specific inhibitor of this protein. This gene also plays a role in regulating host response to viral and bacterial infections. Mutations in this gene are associated with infantile-onset multisystem autoimmune disease and hyper-immunoglobulin E syndrome. [provided by RefSeq, Aug 2020]
STAT4	chr2	191029576	191151596	-	ENSG00000138378.17	protein_coding	SLEB11	2q32.2-q32.3	signal transducer and activator of transcription 4	The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is essential for mediating responses to IL12 in lymphocytes, and regulating the differentiation of T helper cells. Mutations in this gene may be associated with systemic lupus erythematosus and rheumatoid arthritis. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2011]
STAT5A	chr17	42287547	42311943	+	ENSG00000126561.16	protein_coding	MGF|STAT5	17q21.2	signal transducer and activator of transcription 5A	The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein is activated by, and mediates the responses of many cell ligands, such as IL2, IL3, IL7 GM-CSF, erythropoietin, thrombopoietin, and different growth hormones. Activation of this protein in myeloma and lymphoma associated with a TEL/JAK2 gene fusion is independent of cell stimulus and has been shown to be essential for tumorigenesis. The mouse counterpart of this gene is found to induce the expression of BCL2L1/BCL-X(L), which suggests the antiapoptotic function of this gene in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
STAT5B	chr17	42199168	42276707	-	ENSG00000173757.9	protein_coding	GHISID2|STAT5	17q21.2	signal transducer and activator of transcription 5B	The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq, Jul 2008]
STAT6	chr12	57095408	57132139	-	ENSG00000166888.11	protein_coding	D12S1644|IL-4-STAT|STAT6B|STAT6C	12q13.3	signal transducer and activator of transcription 6	The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
STAU1	chr20	49113339	49188367	-	ENSG00000124214.19	protein_coding	PPP1R150|STAU	20q13.13	staufen double-stranded RNA binding protein 1	Staufen is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. The human homologue of staufen encoded by STAU, in addition contains a microtubule- binding domain similar to that of microtubule-associated protein 1B, and binds tubulin. The STAU gene product has been shown to be present in the cytoplasm in association with the rough endoplasmic reticulum (RER), implicating this protein in the transport of mRNA via the microtubule network to the RER, the site of translation. [provided by RefSeq, Apr 2020]
STAU2	chr8	73420369	73747708	-	ENSG00000040341.17	protein_coding	39K2|39K3	8q21.11	staufen double-stranded RNA binding protein 2	Staufen homolog 2 is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. Staufen homolog 2 shares 48.5% and 59.9% similarity with drosophila and human staufen, respectively. The exact function of Staufen homolog 2 is not known, but since it contains 3 copies of conserved dsRNA binding domain, it could be involved in double-stranded RNA binding events. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
STBD1	chr4	76306026	76311599	+	ENSG00000118804.8	protein_coding	GENEX3414|GENX-3414	4q21.1	starch binding domain 1	Broad expression in fat (RPKM 72.0), liver (RPKM 33.4) and 18 other tissues
STC1	chr8	23841915	23854807	-	ENSG00000159167.11	protein_coding	STC	8p21.2	stanniocalcin 1	This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The gene contains a 5 UTR rich in CAG trinucleotide repeats. The encoded protein contains 11 conserved cysteine residues and is phosphorylated by protein kinase C exclusively on its serine residues. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Overexpression of human stanniocalcin 1 in mice produces high serum phosphate levels, dwarfism, and increased metabolic rate. This gene has altered expression in hepatocellular, ovarian, and breast cancers. [provided by RefSeq, Jul 2008]
STC2	chr5	173314713	173329503	-	ENSG00000113739.10	protein_coding	STC-2|STCRP	5q35.2	stanniocalcin 2	This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The encoded protein has 10 of its 15 cysteine residues conserved among stanniocalcin family members and is phosphorylated by casein kinase 2 exclusively on its serine residues. Its C-terminus contains a cluster of histidine residues which may interact with metal ions. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Constitutive overexpression of human stanniocalcin 2 in mice resulted in pre- and postnatal growth restriction, reduced bone and skeletal muscle growth, and organomegaly. Expression of this gene is induced by estrogen and altered in some breast cancers. [provided by RefSeq, Jul 2008]
STEAP1	chr7	90154375	90164829	+	ENSG00000164647.8	protein_coding	PRSS24|STEAP	7q21.13	STEAP family member 1	This gene is predominantly expressed in prostate tissue, and is found to be upregulated in multiple cancer cell lines. The gene product is predicted to be a six-transmembrane protein, and was shown to be a cell surface antigen significantly expressed at cell-cell junctions. [provided by RefSeq, Jul 2008]
STEAP1B	chr7	22419444	22632925	-	ENSG00000105889.14	protein_coding	-	7p15.3	STEAP family member 1B	-
STEAP2	chr7	90167590	90238137	+	ENSG00000157214.13	protein_coding	IPCA1|PCANAP1|PUMPCn|STAMP1|STMP	7q21.13	STEAP2 metalloreductase	This gene is a member of the STEAP family and encodes a multi-pass membrane protein that localizes to the Golgi complex, the plasma membrane, and the vesicular tubular structures in the cytosol. A highly similar protein in mouse has both ferrireductase and cupric reductase activity, and stimulates the cellular uptake of both iron and copper in vitro. Increased transcriptional expression of the human gene is associated with prostate cancer progression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
STEAP3	chr2	119223831	119265652	+	ENSG00000115107.19	protein_coding	AHMIO2|STMP3|TSAP6|dudlin-2|dudulin-2|pHyde	2q14.2	STEAP3 metalloreductase	This gene encodes a multipass membrane protein that functions as an iron transporter. The encoded protein can reduce both iron (Fe3+) and copper (Cu2+) cations. This protein may mediate downstream responses to p53, including promoting apoptosis. Deficiency in this gene can cause anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
STEAP4	chr7	88270892	88306891	-	ENSG00000127954.12	protein_coding	STAMP2|SchLAH|TIARP|TNFAIP9	7q21.12	STEAP4 metalloreductase	The protein encoded by this gene belongs to the STEAP (six transmembrane epithelial antigen of prostate) family, and resides in the golgi apparatus. It functions as a metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+), using NAD(+) as acceptor. Studies in mice and human suggest that this gene maybe involved in adipocyte development and metabolism, and may contribute to the normal biology of the prostate cell, as well as prostate cancer progression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011]
STEEP1	chrX	 119538149	119565409	-	ENSG00000018610	protein-coding	CXorf56|MRX107|STEEP|XLID107	Xq24	STING1 ER exit protein 1	-
STH	chr17	45999250	45999694	+	ENSG00000256762.1	protein_coding	MAPTIT	17q21.31	saitohin	-
STIL	chr1	47250139	47314147	-	ENSG00000123473.15	protein_coding	MCPH7|SIL	1p33	STIL centriolar assembly protein	This gene encodes a cytoplasmic protein implicated in regulation of the mitotic spindle checkpoint, a regulatory pathway that monitors chromosome segregation during cell division to ensure the proper distribution of chromosomes to daughter cells. The protein is phosphorylated in mitosis and in response to activation of the spindle checkpoint, and disappears when cells transition to G1 phase. It interacts with a mitotic regulator, and its expression is required to efficiently activate the spindle checkpoint. It is proposed to regulate Cdc2 kinase activity during spindle checkpoint arrest. Chromosomal deletions that fuse this gene and the adjacent locus commonly occur in T cell leukemias, and are thought to arise through illegitimate V-(D)-J recombination events. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
STIM1	chr11	3854527	4093210	+	ENSG00000167323.11	protein_coding	D11S4896E|GOK|IMD10|STRMK|TAM|TAM1	11p15.4	stromal interaction molecule 1	This gene encodes a type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating of store-operated Ca2+ influx channels (SOCs). It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocrotical carcinoma, and lung, ovarian, and breast cancer. This gene may play a role in malignancies and disease that involve this region, as well as early hematopoiesis, by mediating attachment to stromal cells. Mutations in this gene are associated with fatal classic Kaposi sarcoma, immunodeficiency due to defects in store-operated calcium entry (SOCE) in fibroblasts, ectodermal dysplasia and tubular aggregate myopathy. This gene is oriented in a head-to-tail configuration with the ribonucleotide reductase 1 gene (RRM1), with the 3 end of this gene situated 1.6 kb from the 5 end of the RRM1 gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
STIM2	chr4	26857678	27025381	+	ENSG00000109689.15	protein_coding	-	4p15.2	stromal interaction molecule 2	Ubiquitous expression in gall bladder (RPKM 9.8), lymph node (RPKM 8.6) and 25 other tissues
STIMATE	chr3	 52836733	52897548	-	ENSG00000213533	protein-coding	TMEM110	3p21.1	STIM activating enhancer	Ubiquitous expression in bone marrow (RPKM 12.1), lung (RPKM 12.0) and 25 other tissues
STIMATE-MUSTN1	chr3	 52833121	52897548	-	ENSG00000248592	protein-coding	TMEM110-MUSTN1	3p21.1	STIMATE-MUSTN1 readthrough	This locus represents naturally occurring read-through transcription between the neighboring TMEM110 (transmembrane protein 110) and MUSTN1 (musculoskeletal, embryonic nuclear protein 1) genes. The read-through transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Nov 2010]
STING1	chr5	 139475533	139482758	-	ENSG00000184584	protein-coding	ERIS|MITA|MPYS|NET23|SAVI|STING|STING-beta|TMEM173|hMITA|hSTING	5q31.2	stimulator of interferon response cGAMP interactor 1	This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-onset STING-associated vasculopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
STIP1	chr11	64185272	64204543	+	ENSG00000168439.16	protein_coding	HEL-S-94n|HOP|IEF-SSP-3521|P60|STI1|STI1L	11q13.1	stress induced phosphoprotein 1	STIP1 is an adaptor protein that coordinates the functions of HSP70 (see HSPA1A; MIM 140550) and HSP90 (see HSP90AA1; MIM 140571) in protein folding. It is thought to assist in the transfer of proteins from HSP70 to HSP90 by binding both HSP90 and substrate-bound HSP70. STIP1 also stimulates the ATPase activity of HSP70 and inhibits the ATPase activity of HSP90, suggesting that it regulates both the conformations and ATPase cycles of these chaperones (Song and Masison, 2005 [PubMed 16100115]).[supplied by OMIM, Jul 2009]
STK10	chr5	172042073	172188386	-	ENSG00000072786.12	protein_coding	LOK|PRO2729	5q35.1	serine/threonine kinase 10	This gene encodes a member of the Ste20 family of serine/threonine protein kinases, and is similar to several known polo-like kinase kinases. The protein can associate with and phosphorylate polo-like kinase 1, and overexpression of a kinase-dead version of the protein interferes with normal cell cycle progression. The kinase can also negatively regulate interleukin 2 expression in T-cells via the mitogen activated protein kinase kinase 1 pathway. [provided by RefSeq, Jul 2008]
STK11	chr19	1177558	1228435	+	ENSG00000118046.14	protein_coding	LKB1|PJS|hLKB1	19p13.3	serine/threonine kinase 11	This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
STK11IP	chr2	219597860	219616451	+	ENSG00000144589.21	protein_coding	LIP1|LKB1IP|STK11IP1	2q35	serine/threonine kinase 11 interacting protein	Broad expression in testis (RPKM 10.6), spleen (RPKM 4.9) and 24 other tissues
STK16	chr2	219245455	219250337	+	ENSG00000115661.13	protein_coding	KRCT|MPSK|PKL12|PSK|TSF1|hPSK	2q35	serine/threonine kinase 16	Ubiquitous expression in thyroid (RPKM 7.6), brain (RPKM 6.9) and 25 other tissues
STK17A	chr7	43582758	43626786	+	ENSG00000164543.5	protein_coding	DRAK1	7p13	serine/threonine kinase 17a	This gene is a member of the DAP kinase-related apoptosis-inducing protein kinase family and encodes an autophosphorylated nuclear protein with a protein kinase domain. The protein has apoptosis-inducing activity. [provided by RefSeq, Jul 2008]
STK17B	chr2	196133566	196176503	-	ENSG00000081320.10	protein_coding	DRAK2	2q32.3	serine/threonine kinase 17b	Broad expression in bone marrow (RPKM 54.0), lymph node (RPKM 45.0) and 18 other tissues
STK19	chr6	31971091	31982821	+	ENSG00000204344.14	protein_coding	D6S60|D6S60E|G11|HLA-RP1|RP1	6p21.33	serine/threonine kinase 19	This gene encodes a serine/threonine kinase which localizes predominantly to the nucleus. Its specific function is unknown; it is possible that phosphorylation of this protein is involved in transcriptional regulation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6 and expresses two transcript variants. [provided by RefSeq, Jul 2008]
STK19B	chr6	32013270	32013787	+	ENSG00000250535.1	unprocessed_pseudogene	RP2|STK19P|bPG116M5.10	6p21.33	serine/threonine kinase 19B (pseudogene)	-
STK24	chr13	98445185	98577940	-	ENSG00000102572.14	protein_coding	HEL-S-95|MST3|MST3B|STE20|STK3	13q32.2	serine/threonine kinase 24	This gene encodes a serine/threonine protein kinase that functions upstream of mitogen-activated protein kinase (MAPK) signaling. The encoded protein is cleaved into two chains by caspases; the N-terminal fragment (MST3/N) translocates to the nucleus and promotes programmed cells death. There is a pseudogene for this gene on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
STK24-AS1	chr13	98577244	98578830	+	ENSG00000224418.1	antisense	-	13q32.2	STK24 antisense RNA 1	-
STK25	chr2	241492674	241509730	-	ENSG00000115694.14	protein_coding	SOK1|YSK1	2q37.3	serine/threonine kinase 25	This gene encodes a member of the germinal centre kinase III (GCK III) subfamily of the sterile 20 superfamily of kinases. The encoded enzyme plays a role in serine-threonine liver kinase B1 (LKB1) signaling pathway to regulate neuronal polarization and morphology of the Golgi apparatus. The protein is translocated from the Golgi apparatus to the nucleus in response to chemical anoxia and plays a role in regulation of cell death. A pseudogene associated with this gene is located on chromosome 18. Multiple alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]
STK31	chr7	23710167	23832513	+	ENSG00000196335.12	protein_coding	SGK396|TDRD8	7p15.3	serine/threonine kinase 31	This gene is similar to a mouse gene that encodes a putative protein kinase with a tudor domain, and shows testis-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
STK32B	chr4	5051442	5500998	+	ENSG00000152953.12	protein_coding	HSA250839|STK32|STKG6|YANK2	4p16.2	serine/threonine kinase 32B	This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
STK32C	chr10	132207492	132331847	-	ENSG00000165752.16	protein_coding	PKE|YANK3	10q26.3	serine/threonine kinase 32C	The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
STK33	chr11	8391868	8594289	-	ENSG00000130413.15	protein_coding	-	11p15.4	serine/threonine kinase 33	-
STK35	chr20	2101611	2177038	+	ENSG00000125834.12	protein_coding	CLIK1|STK35L1	20p13	serine/threonine kinase 35	The protein encoded by this gene is a kinase that is predominantly found in the nucleus. However, it can interact with PDLIM1/CLP-36 in the cytoplasm and localize to actin stress fibers. The encoded protein may be a regulator of actin stress fibers in nonmuscle cells. [provided by RefSeq, Jul 2008]
STK36	chr2	218672026	218702716	+	ENSG00000163482.11	protein_coding	CILD46|FU	2q35	serine/threonine kinase 36	This gene encodes a member of the serine/threonine kinase family of enzymes. This family member is similar to a Drosophila protein that plays a key role in the Hedgehog signaling pathway. This human protein is a positive regulator of the GLI zinc-finger transcription factors. Knockout studies of the homologous mouse gene suggest that defects in this human gene may lead to congenital hydrocephalus, possibly due to a functional defect in motile cilia. Because Hedgehog signaling is frequently activated in certain kinds of gastrointestinal cancers, it has been suggested that this gene is a target for the treatment of these cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
STK38	chr6	36493892	36547470	-	ENSG00000112079.8	protein_coding	NDR|NDR1	6p21.31	serine/threonine kinase 38	This gene encodes a member of the AGC serine/threonine kinase family of proteins. The kinase activity of this protein is regulated by autophosphorylation and phosphorylation by other upstream kinases. This protein has been shown to function in the cell cycle and apoptosis. This protein has also been found to regulate the protein stability and transcriptional activity of the MYC oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
STK38L	chr12	27243968	27325959	+	ENSG00000211455.7	protein_coding	NDR2	12p11.23	serine/threonine kinase 38 like	Ubiquitous expression in gall bladder (RPKM 16.1), heart (RPKM 15.2) and 25 other tissues
STK39	chr2	167954020	168248141	-	ENSG00000198648.10	protein_coding	DCHT|PASK|SPAK	2q24.3	serine/threonine kinase 39	This gene encodes a serine/threonine kinase that is thought to function in the cellular stress response pathway. The kinase is activated in response to hypotonic stress, leading to phosphorylation of several cation-chloride-coupled cotransporters. The catalytically active kinase specifically activates the p38 MAP kinase pathway, and its interaction with p38 decreases upon cellular stress, suggesting that this kinase may serve as an intermediate in the response to cellular stress. [provided by RefSeq, Jul 2008]
STK4	chr20	44966474	45079959	+	ENSG00000101109.11	protein_coding	KRS2|MST1|YSK3	20q13.12	serine/threonine kinase 4	The protein encoded by this gene is a cytoplasmic kinase that is structurally similar to the yeast Ste20p kinase, which acts upstream of the stress-induced mitogen-activated protein kinase cascade. The encoded protein can phosphorylate myelin basic protein and undergoes autophosphorylation. A caspase-cleaved fragment of the encoded protein has been shown to be capable of phosphorylating histone H2B. The particular phosphorylation catalyzed by this protein has been correlated with apoptosis, and its possible that this protein induces the chromatin condensation observed in this process. [provided by RefSeq, Jul 2008]
STK40	chr1	36339624	36385896	-	ENSG00000196182.10	protein_coding	SHIK|SgK495	1p34.3	serine/threonine kinase 40	Ubiquitous expression in testis (RPKM 28.4), ovary (RPKM 17.2) and 25 other tissues
STKLD1	chr9	133376367	133406096	+	ENSG00000198870.7	protein_coding	C9orf96|SgK071|Sk521	9q34.2	serine/threonine kinase like domain containing 1	Biased expression in testis (RPKM 4.5), brain (RPKM 0.4) and 2 other tissues
STMN1	chr1	25884181	25906991	-	ENSG00000117632.22	protein_coding	C1orf215|LAP18|Lag|OP18|PP17|PP19|PR22|SMN	1p36.11	stathmin 1	This gene belongs to the stathmin family of genes. It encodes a ubiquitous cytosolic phosphoprotein proposed to function as an intracellular relay integrating regulatory signals of the cellular environment. The encoded protein is involved in the regulation of the microtubule filament system by destabilizing microtubules. It prevents assembly and promotes disassembly of microtubules. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
STMN2	chr8	79610814	79666175	+	ENSG00000104435.13	protein_coding	SCG10|SCGN10	8q21.13	stathmin 2	This gene encodes a member of the stathmin family of phosphoproteins. Stathmin proteins function in microtubule dynamics and signal transduction. The encoded protein plays a regulatory role in neuronal growth and is also thought to be involved in osteogenesis. Reductions in the expression of this gene have been associated with Downs syndrome and Alzheimers disease. Alternatively spliced transcript variants have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Nov 2010]
STMN3	chr20	63639705	63657682	-	ENSG00000197457.9	protein_coding	SCLIP	20q13.33	stathmin 3	This gene encodes a protein which is a member of the stathmin protein family. Members of this protein family form a complex with tubulins at a ratio of 2 tubulins for each stathmin protein. Microtubules require the ordered assembly of alpha- and beta-tubulins, and formation of a complex with stathmin disrupts microtubule formation and function. A pseudogene of this gene is located on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
STMND1	chr6	17102258	17131372	+	ENSG00000230873.8	protein_coding	-	6p22.3	stathmin domain containing 1	-
STMP1	chr7	 135662514	135676416	+	ENSG00000243317	protein-coding	C7orf73|Mm47|PL-5283	7q33	short transmembrane mitochondrial protein 1	Ubiquitous expression in thyroid (RPKM 20.9), testis (RPKM 17.4) and 25 other tissues
STN1	chr10	103882542	103918205	-	ENSG00000107960.10	protein_coding	AAF-44|AAF44|OBFC1|RPA-32|bA541N10.2	10q24.33	STN1 subunit of CST complex	OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]
STOM	chr9	121338988	121370304	-	ENSG00000148175.12	protein_coding	BND7|EPB7|EPB72	9q33.2	stomatin	This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
STOML1	chr15	73978923	73994622	-	ENSG00000067221.13	protein_coding	SLP-1|STORP|hUNC-24	15q24.1	stomatin like 1	Ubiquitous expression in brain (RPKM 7.6), thyroid (RPKM 3.3) and 25 other tissues
STOML3	chr13	38965925	38991066	-	ENSG00000133115.11	protein_coding	Epb7.2l|SRO	13q13.3	stomatin like 3	Biased expression in lung (RPKM 1.0), endometrium (RPKM 0.3) and 2 other tissues
STON1	chr2	48529383	48598513	+	ENSG00000243244.5	protein_coding	SALF|SBLF|STN1|STNB1	2p16.3	stonin 1	Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of the plasma membrane. This gene encodes one of two human homologs of the Drosophila melanogaster stoned B protein. This protein is related to components of the endocytic machinery and exhibits a modular structure consisting of an N-terminal proline-rich domain, a central region of homology specific to the human stoned B-like proteins, and a C-terminal region homologous to the mu subunits of adaptor protein (AP) complexes. Read-through transcription of this gene into the neighboring downstream gene, which encodes TFIIA-alpha/beta-like factor, generates a transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
STON1-GTF2A1L	chr2	48529925	48776517	+	ENSG00000068781.21	protein_coding	ALF|GTF2A1L|GTF2A1LF|SALF	2p16.3	STON1-GTF2A1L readthrough	STON1-GTF2A1L mRNAs are infrequent but naturally occurring read-through products of the neighboring STON1 and GTF2A1L genes. These transcripts encode fusion proteins composed of the vast majority of each of the individual elements, stonin 1 and general transcription factor IIA, 1-like. Alternative splicing results in multiple transcript variants. The significance of these read-through variants and the function of the resulting protein products have not yet been determined. [provided by RefSeq, Oct 2010]
STON2	chr14	81260656	81436465	-	ENSG00000140022.9	protein_coding	STN2|STNB|STNB2	14q31.1	stonin 2	This gene encodes a protein which is a membrane protein involved in regulating endocytotic complexes. The protein product is described as one of the clathrin-associated sorting proteins, adaptor molecules which ensure specific proteins are internalized. The encoded protein has also been shown to participate in synaptic vesicle recycling through interaction with synaptotagmin 1 required for neurotransmission. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
STOX1	chr10	68827541	68895432	+	ENSG00000165730.14	protein_coding	C10orf24	10q22.1	storkhead box 1	The protein encoded by this gene may function as a DNA binding protein. Mutations in this gene are associated with pre-eclampsia/eclampsia 4 (PEE4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
STPG1	chr1	24356999	24416934	-	ENSG00000001460.17	protein_coding	C1orf201|MAPO2	1p36.11	sperm tail PG-rich repeat containing 1	Broad expression in testis (RPKM 15.3), brain (RPKM 3.3) and 20 other tissues
STPG3	chr9	137251261	137253483	+	ENSG00000197768.10	protein_coding	C9orf173	9q34.3	sperm-tail PG-rich repeat containing 3	Biased expression in testis (RPKM 14.0), duodenum (RPKM 2.2) and 4 other tissues
STRA6	chr15	74179466	74212267	-	ENSG00000137868.18	protein_coding	MCOPCB8|MCOPS9|PP14296	15q24.1	signaling receptor and transporter of retinol STRA6	The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
STRADA	chr17	63682336	63741986	-	ENSG00000266173.6	protein_coding	LYK5|NY-BR-96|PMSE|STRAD|STRAD alpha|Stlk	17q23.3	STE20 related adaptor alpha	The protein encoded by this gene contains a STE20-like kinase domain, but lacks several residues that are critical for catalytic activity, so it is termed a pseudokinase. The protein forms a heterotrimeric complex with serine/threonine kinase 11 (STK11, also known as LKB1) and the scaffolding protein calcium binding protein 39 (CAB39, also known as MO25). The protein activates STK11 leading to the phosphorylation of both proteins and excluding STK11 from the nucleus. The protein is necessary for STK11-induced G1 cell cycle arrest. A mutation in this gene has been shown to result in polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their full-length nature is not known. [provided by RefSeq, Sep 2009]
STRADB	chr2	201387858	201480846	+	ENSG00000082146.12	protein_coding	ALS2CR2|CALS-21|ILPIP|ILPIPA|PAPK|PRO1038	2q33.1	STE20 related adaptor beta	This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
STRBP	chr9	123109500	123268576	-	ENSG00000165209.18	protein_coding	HEL162|ILF3L|SPNR|p74	9q33.3	spermatid perinuclear RNA binding protein	Broad expression in testis (RPKM 6.5), lymph node (RPKM 4.6) and 25 other tissues
STRC	chr15	43599398	43618800	-	ENSG00000242866.9	protein_coding	DFNB16	15q15.3	stereocilin	This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. [provided by RefSeq, Jul 2008]
STRCP1	chr15	43699488	43718184	-	ENSG00000166763.7	unprocessed_pseudogene	STRCP	15q15.3	stereocilin pseudogene 1	-
STRIP1	chr1	110031577	110074641	+	ENSG00000143093.14	protein_coding	FAM40A|FAR11A	1p13.3	striatin interacting protein 1	This gene encodes a member of the striatin-interacting phosphatase and kinase complex, which is involved in localization of the Golgi body. The encoded protein participates in cytosketelal organization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
STRIP2	chr7	129434433	129488399	+	ENSG00000128578.9	protein_coding	FAM40B|FAR11B	7q32.1	striatin interacting protein 2	Biased expression in testis (RPKM 7.5), brain (RPKM 4.0) and 9 other tissues
STRN	chr2	36843640	36966472	-	ENSG00000115808.11	protein_coding	PPP2R6A|SG2NA|STRN1	2p22.2	striatin	Ubiquitous expression in esophagus (RPKM 6.7), brain (RPKM 5.1) and 25 other tissues
STRN4	chr19	46719507	46746994	-	ENSG00000090372.14	protein_coding	PPP2R6C|ZIN|zinedin	19q13.32	striatin 4	Broad expression in testis (RPKM 42.4), spleen (RPKM 16.0) and 25 other tissues
STT3A	chr11	125591712	125625215	+	ENSG00000134910.12	protein_coding	ITM1|STT3-A|TMC	11q24.2	STT3 oligosaccharyltransferase complex catalytic subunit A	The protein encoded by this gene is a catalytic subunit of the N-oligosaccharyltransferase (OST) complex, which functions in the endoplasmic reticulum to transfer glycan chains to asparagine residues of target proteins. A separate complex containing a similar catalytic subunit with an overlapping function also exists. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
STUB1	chr16	680224	682870	+	ENSG00000103266.10	protein_coding	CHIP|HSPABP2|NY-CO-7|SCA48|SCAR16|SDCCAG7|UBOX1	16p13.3	STIP1 homology and U-box containing protein 1	This gene encodes a protein containing tetratricopeptide repeat and a U-box that functions as a ubiquitin ligase/cochaperone. The encoded protein binds to and ubiquitinates shock cognate 71 kDa protein (Hspa8) and DNA polymerase beta (Polb), among other targets. Mutations in this gene cause spinocerebellar ataxia, autosomal recessive 16. Alternative splicing results in multiple transcript variants. There is a pseudogene for this gene on chromosome 2. [provided by RefSeq, Jun 2014]
STUB1-DT	chr16	 678518	679777	-	ENSG00000260394	pseudogene	LA16c-313D11.9|LINC02867	16p13.3	STUB1 divergent transcript	-
STUM	chr1	226548800	226609214	+	ENSG00000203685.9	protein_coding	C1orf95	1q42.12	stum, mechanosensory transduction mediator homolog	Biased expression in brain (RPKM 14.0), esophagus (RPKM 3.3) and 11 other tissues
STX10	chr19	13144058	13150383	-	ENSG00000104915.14	protein_coding	SYN10|hsyn10	19p13.13	syntaxin 10	This gene belongs to the syntaxin family and encodes a soluble N-ethylmaleimide sensitive factor attachment protein receptor (SNARE). The encoded protein is involved in docking and fusion events at the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
STX11	chr6	144150526	144188370	+	ENSG00000135604.9	protein_coding	FHL4|HLH4|HPLH4	6q24.2	syntaxin 11	This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008]
STX16	chr20	58651253	58679526	+	ENSG00000124222.22	protein_coding	SYN16	20q13.32	syntaxin 16	This gene encodes a protein that is a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for V-SNARES (vesicle-SNAP receptors) permitting specific synaptic vesicle docking and fusion. A microdeletion in the region of chromosome 20 where this gene is located has been associated with pseudohypoparathyroidism type Ib. Multiple transcript variants have been found for this gene. Read-through transcription also exists between this gene and the neighboring downstream aminopeptidase-like 1 (NPEPL1) gene. [provided by RefSeq, Mar 2011]
STX17	chr9	99906633	99970341	+	ENSG00000136874.10	protein_coding	-	9q31.1	syntaxin 17	-
STX19	chr3	94014369	94028610	-	ENSG00000178750.2	protein_coding	-	3q11.2	syntaxin 19	-
STX1A	chr7	73699206	73719672	-	ENSG00000106089.11	protein_coding	HPC-1|P35-1|STX1|SYN1A	7q11.23	syntaxin 1A	This gene encodes a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins possess a single C-terminal transmembrane domain, a SNARE [Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment protein REceptor] domain (known as H3), and an N-terminal regulatory domain (Habc). Syntaxins bind synaptotagmin in a calcium-dependent fashion and interact with voltage dependent calcium and potassium channels via the C-terminal H3 domain. This gene product is a key molecule in ion channel regulation and synaptic exocytosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
STX1B	chr16	30989256	31010661	-	ENSG00000099365.10	protein_coding	GEFSP9|STX1B1|STX1B2	16p11.2	syntaxin 1B	The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinsons disease has also been suggested. [provided by RefSeq, Jan 2015]
STX2	chr12	130789600	130839266	-	ENSG00000111450.13	protein_coding	EPIM|EPM|STX2A|STX2B|STX2C	12q24.33	syntaxin 2	The product of this gene belongs to the syntaxin/epimorphin family of proteins. The syntaxins are a large protein family implicated in the targeting and fusion of intracellular transport vesicles. The product of this gene regulates epithelial-mesenchymal interactions and epithelial cell morphogenesis and activation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
STX3	chr11	59755059	59805882	+	ENSG00000166900.15	protein_coding	DIAR12|MVID2|RDMVID|STX3A	11q12.1	syntaxin 3	The gene is a member of the syntaxin family. The encoded protein is targeted to the apical membrane of epithelial cells where it forms clusters and is important in establishing and maintaining polarity necessary for protein trafficking involving vesicle fusion and exocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
STX4	chr16	31032889	31042975	+	ENSG00000103496.14	protein_coding	STX4A|p35-2	16p11.2	syntaxin 4	Ubiquitous expression in spleen (RPKM 17.8), adrenal (RPKM 16.5) and 25 other tissues
STX5	chr11	62806897	62832088	-	ENSG00000162236.11	protein_coding	SED5|STX5A	11q12.3	syntaxin 5	This gene encodes a member of the syntaxin or t-SNARE (target-SNAP receptor) family. These proteins are found on cell membranes and serve as the targets for v-SNAREs (vesicle-SNAP receptors), permitting specific synaptic vesicle docking and fusion. The encoded protein regulates endoplasmic reticulum to Golgi transport and plays a critical role in autophagy. Autoantibodies targeting the encoded protein may be a diagnostic marker for endometriosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
STX6	chr1	180972712	181023121	-	ENSG00000135823.13	protein_coding	-	1q25.3	syntaxin 6	-
STX7	chr6	132445867	132513198	-	ENSG00000079950.13	protein_coding	-	6q23.2	syntaxin 7	Ubiquitous expression in lymph node (RPKM 31.8), spleen (RPKM 19.7) and 24 other tissues
STX8	chr17	9250471	9576591	-	ENSG00000170310.14	protein_coding	CARB	17p13.1	syntaxin 8	The gene is a member of the syntaxin family. The encoded protein is involved in protein trafficking from early to late endosomes via vesicle fusion and exocytosis. A related pseudogene has been identified on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
STXBP1	chr9	127579370	127696027	+	ENSG00000136854.19	protein_coding	DEE4|MUNC18-1|N-Sec1|NSEC1|P67|RBSEC1|UNC18|unc-18A|unc18-1	9q34.11	syntaxin binding protein 1	This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
STXBP2	chr19	7636881	7647873	+	ENSG00000076944.15	protein_coding	FHL5|Hunc18b|MUNC18-2|UNC18-2|UNC18B|pp10122	19p13.2	syntaxin binding protein 2	This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]
STXBP3	chr1	108746674	108809526	+	ENSG00000116266.10	protein_coding	MUNC18-3|MUNC18C|PSP|UNC-18C	1p13.3	syntaxin binding protein 3	Ubiquitous expression in thyroid (RPKM 25.5), kidney (RPKM 20.8) and 25 other tissues
STXBP4	chr17	54968727	55173632	+	ENSG00000166263.13	protein_coding	Synip	17q22	syntaxin binding protein 4	Ubiquitous expression in kidney (RPKM 1.4), thyroid (RPKM 1.4) and 25 other tissues
STXBP5	chr6	147204425	147390476	+	ENSG00000164506.14	protein_coding	LGL3|LLGL3|Nbla04300	6q24.3	syntaxin binding protein 5	Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar protein dissociates syntaxin 1 from the Munc18/n-Sec1/rbSec1 complex to form a 10S complex, an intermediate which can be converted to the 7S SNARE complex. Thus this protein is thought to be involved in neurotransmitter release by stimulating SNARE complex formation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
STXBP5-AS1	chr6	146841901	147204614	-	ENSG00000233452.6	antisense	-	6q24.3	STXBP5 antisense RNA 1	-
STXBP5L	chr3	120908072	121424761	+	ENSG00000145087.12	protein_coding	LLGL4	3q13.33	syntaxin binding protein 5L	The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. [provided by RefSeq, Jan 2017]
STXBP6	chr14	24809656	25050297	-	ENSG00000168952.15	protein_coding	HSPC156|amisyn	14q12	syntaxin binding protein 6	STXBP6 binds components of the SNARE complex (see MIM 603215) and may be involved in regulating SNARE complex formation (Scales et al., 2002 [PubMed 12145319]).[supplied by OMIM, Mar 2008]
STYX	chr14	52730180	52774998	+	ENSG00000198252.11	protein_coding	-	14q22.1	serine/threonine/tyrosine interacting protein	Ubiquitous expression in testis (RPKM 7.7), lymph node (RPKM 7.4) and 25 other tissues
STYXL1	chr7	75996338	76048004	-	ENSG00000127952.16	protein_coding	DUSP24|MK-STYX|MKSTYX	7q11.23	serine/threonine/tyrosine interacting like 1	Ubiquitous expression in testis (RPKM 9.4), esophagus (RPKM 5.9) and 25 other tissues
SUB1	chr5	32531633	32604079	+	ENSG00000113387.11	protein_coding	P15|PC4|p14	5p13.3	SUB1 regulator of transcription	Ubiquitous expression in brain (RPKM 41.5), fat (RPKM 34.4) and 25 other tissues
SUB1P1	chr8	11790005	11790386	+	ENSG00000227203.3	processed_pseudogene	hCG17750	8p23.1	SUB1 pseudogene 1	-
SUCLA2	chr13	47936491	48001354	-	ENSG00000136143.14	protein_coding	A-BETA|A-SCS|LINC00444|MTDPS5|SCS-betaA	13q14.2	succinate-CoA ligase ADP-forming subunit beta	Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq, Jul 2008]
SUCLA2-AS1	chr13	48001389	48002552	+	ENSG00000227848.1	antisense	-	13q14.2	SUCLA2 antisense RNA 1	-
SUCLA2P1	chr6	30468882	30470251	+	ENSG00000224936.1	processed_pseudogene	Em:AB014080.4|SUCLA2P	6p22.1	SUCLA2 pseudogene 1	-
SUCLA2P3	chr2	25079901	25081689	-	ENSG00000229593.1	processed_pseudogene	-	2p23.3	SUCLA2 pseudogene 3	-
SUCLG2	chr3	67360460	67654614	-	ENSG00000172340.14	protein_coding	G-SCS|GBETA|GTPSCS	3p14.1	succinate-CoA ligase GDP-forming subunit beta	This gene encodes a GTP-specific beta subunit of succinyl-CoA synthetase. Succinyl-CoA synthetase catalyzes the reversible reaction involving the formation of succinyl-CoA and succinate. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 5 and 12. [provided by RefSeq, Apr 2010]
SUCNR1	chr3	151873643	151884619	+	ENSG00000198829.6	protein_coding	GPR91	3q25.1	succinate receptor 1	This gene encodes a G-protein-coupled receptor for succinate, an intermediate molecule of the citric acid cycle. It is involved in the promotion of hematopoietic progenitor cell development, and it has a potential role in renovascular hypertension which has known correlations to renal failure, diabetes and atherosclerosis. [provided by RefSeq, Oct 2009]
SUCO	chr1	172532349	172611833	+	ENSG00000094975.13	protein_coding	C1orf9|CH1|OPT|SLP1	1q24.3	SUN domain containing ossification factor	Ubiquitous expression in bone marrow (RPKM 30.3), testis (RPKM 17.2) and 25 other tissues
SUDS3	chr12	118376380	118418031	+	ENSG00000111707.11	protein_coding	SAP45|SDS3	12q24.23	SDS3 homolog, SIN3A corepressor complex component	SDS3 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008]
SUFU	chr10	102503987	102633535	+	ENSG00000107882.11	protein_coding	JBTS32|PRO1280|SUFUH|SUFUXL	10q24.32	SUFU negative regulator of hedgehog signaling	The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
SUGCT	chr7	40134977	40860763	+	ENSG00000175600.15	protein_coding	C7orf10|DERP13|GA3|ORF19	7p14.1	succinyl-CoA:glutarate-CoA transferase	This gene encodes a protein that is similar to members of the CaiB/baiF CoA-transferase protein family. Mutations in this gene are associated with glutaric aciduria type III. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
SUGP1	chr19	19276018	19320844	-	ENSG00000105705.15	protein_coding	F23858|RBP|SF4	19p13.11	SURP and G-patch domain containing 1	SF4 is a member of the SURP family of splicing factors.[supplied by OMIM, Sep 2003]
SUGP2	chr19	18990888	19034023	-	ENSG00000064607.16	protein_coding	SFRS14|SRFS14	19p13.11	SURP and G-patch domain containing 2	This gene encodes a member of the arginine/serine-rich family of splicing factors. The encoded protein functions in mRNA processing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
SUGT1	chr13	52652709	52700909	+	ENSG00000165416.14	protein_coding	SGT1	13q14.3	SGT1 homolog, MIS12 kinetochore complex assembly cochaperone	This gene encodes a highly conserved nuclear protein involved in kinetochore function and required for the G1/S and G2/M transitions. This protein interacts with heat shock protein 90. Alternative splicing results in multiple transcript variants. Pseudogenes for this gene have been defined on several different chromosomes. [provided by RefSeq, Mar 2016]
SUGT1P3	chr13	40882577	40921774	-	ENSG00000239827.8	transcribed_unprocessed_pseudogene	SUGT1L1	13q14.11	SUGT1 pseudogene 3	Ubiquitous expression in thyroid (RPKM 1.6), brain (RPKM 0.7) and 23 other tissues
SULF1	chr8	69466624	69660915	+	ENSG00000137573.13	protein_coding	SULF-1	8q13.2-q13.3	sulfatase 1	This gene encodes an extracellular heparan sulfate endosulfatase. The encoded enzyme selectively removes 6-O-sulfate groups from heparan sulfate chains of heparan sulfate proteoglycans (HSPGs). The enzyme is secreted through the Golgi and is subsequently localized to the cell surface. The expression of this gene may be down-regulated in several types of cancer, including hepatocellular (HCC), ovarian and breast cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
SULF2	chr20	47656348	47786616	-	ENSG00000196562.14	protein_coding	HSULF-2	20q13.12	sulfatase 2	Heparan sulfate proteoglycans (HSPGs) act as coreceptors for numerous heparin-binding growth factors and cytokines and are involved in cell signaling. Heparan sulfate 6-O-endosulfatases, such as SULF2, selectively remove 6-O-sulfate groups from heparan sulfate. This activity modulates the effects of heparan sulfate by altering binding sites for signaling molecules (Dai et al., 2005 [PubMed 16192265]).[supplied by OMIM, Mar 2008]
SULT1A1	chr16	28605196	28623625	-	ENSG00000196502.11	protein_coding	HAST1/HAST2|P-PST|P-PST 1|PST|ST1A1|ST1A3|STP|STP1|TSPST1|ts-PST	16p11.2	sulfotransferase family 1A member 1	Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity.  Multiple alternatively spliced variants that encode two isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
SULT1A2	chr16	28591943	28597109	-	ENSG00000197165.10	protein_coding	HAST4|P-PST|P-PST 2|ST1A2|STP2|TSPST2	16p11.2	sulfotransferase family 1A member 2	Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity. Two alternatively spliced variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]
SULT1A3	chr16	30199228	30204310	+	ENSG00000261052.5	protein_coding	HAST|HAST3|M-PST|ST1A3|ST1A3/ST1A4|ST1A4|ST1A5|STM|TL-PST	16p11.2	sulfotransferase family 1A member 3	Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a phenol sulfotransferase with thermolabile enzyme activity. Four sulfotransferase genes are located on the p arm of chromosome 16; this gene and SULT1A4 arose from a segmental duplication. This gene is the most centromeric of the four sulfotransferase genes. Read-through transcription exists between this gene and the upstream SLX1A (SLX1 structure-specific endonuclease subunit homolog A) gene that encodes a protein containing GIY-YIG domains. [provided by RefSeq, Nov 2010]
SULT1A4	chr16	29459889	29464976	+	ENSG00000213648.10	protein_coding	HAST3|M-PST|ST1A3|ST1A3/ST1A4|ST1A4|STM|TL-PST	16p11.2	sulfotransferase family 1A member 4	Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a phenol sulfotransferase with thermolabile enzyme activity. Four sulfotransferase genes are located on the p arm of chromosome 16, this gene and SULT1A3 arose from a segmental duplication. Read-through transcription exists between this gene and the upstream SLX1B (SLX1 structure-specific endonuclease subunit homolog B) gene that encodes a protein containing GIY-YIG domains. [provided by RefSeq, Nov 2010]
SULT1C3	chr2	108247195	108265351	+	ENSG00000196228.3	protein_coding	ST1C3	2q12.3	sulfotransferase family 1C member 3	Low expression observed in reference dataset
SULT1C4	chr2	108377911	108388057	+	ENSG00000198075.9	protein_coding	SULT1C|SULT1C2	2q12.3	sulfotransferase family 1C member 4	Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. [provided by RefSeq, Jul 2008]
SULT2A1	chr19	47870466	47886397	-	ENSG00000105398.3	protein_coding	DHEA-ST|DHEA-ST8|DHEAS|HST|ST2|ST2A1|ST2A3|STD|SULT2A3|hSTa	19q13.33	sulfotransferase family 2A member 1	This gene encodes a member of the sulfotransferase family. Sulfotransferases aid in the metabolism of drugs and endogenous compounds by converting these substances into more hydrophilic water-soluble sulfate conjugates that can be easily excreted. This protein catalyzes the sulfation of steroids and bile acids in the liver and adrenal glands, and may have a role in the inherited adrenal androgen excess in women with polycystic ovary syndrome. [provided by RefSeq, Mar 2010]
SULT2B1	chr19	48552075	48599425	+	ENSG00000088002.11	protein_coding	ARCI14|HSST2	19q13.33	sulfotransferase family 2B member 1	Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene sulfates dehydroepiandrosterone but not 4-nitrophenol, a typical substrate for the phenol and estrogen sulfotransferase subfamilies. Two alternatively spliced variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]
SUMF2	chr7	56064002	56080670	+	ENSG00000129103.17	protein_coding	pFGE	7p11.2	sulfatase modifying factor 2	The catalytic sites of sulfatases are only active if they contain a unique amino acid, C-alpha-formylglycine (FGly). The FGly residue is posttranslationally generated from a cysteine by enzymes with FGly-generating activity. The gene described in this record is a member of the sulfatase-modifying factor family and encodes a protein with a DUF323 domain that localizes to the lumen of the endoplasmic reticulum. This protein has low levels of FGly-generating activity but can heterodimerize with another family member - a protein with high levels of FGly-generating activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
SUMO1	chr2	202206180	202238608	-	ENSG00000116030.16	protein_coding	DAP1|GMP1|OFC10|PIC1|SENP2|SMT3|SMT3C|SMT3H3|UBL1	2q33.1	small ubiquitin like modifier 1	This gene encodes a protein that is a member of the SUMO (small ubiquitin-like modifier) protein family. It functions in a manner similar to ubiquitin in that it is bound to target proteins as part of a post-translational modification system. However, unlike ubiquitin which targets proteins for degradation, this protein is involved in a variety of cellular processes, such as nuclear transport, transcriptional regulation, apoptosis, and protein stability. It is not active until the last four amino acids of the carboxy-terminus have been cleaved off. Several pseudogenes have been reported for this gene. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]
SUMO1P1	chr20	53875252	53875557	-	ENSG00000241721.1	processed_pseudogene	PIC1L|UBL2|UBL6	20q13.2	SUMO1 pseudogene 1	Enables identical protein binding activity. Involved in PML body organization and protein sumoylation. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
SUMO2P1	chr6	29636060	29636343	-	ENSG00000235238.1	processed_pseudogene	SMT3Bp|SMT3H2P|SUMO2P|dJ271M21	6p22.1	SUMO2 pseudogene 1	-
SUMO2P17	chr17	48874860	48908983	-	ENSG00000248278.1	transcribed_processed_pseudogene	-	17q21.32	SUMO2 pseudogene 17	-
SUMO2P8	chr6	108618000	108618285	-	ENSG00000228976.1	processed_pseudogene	-	6q21	SUMO2 pseudogene 8	-
SUMO3	chr21	44805617	44818779	-	ENSG00000184900.15	protein_coding	SMT3A|SMT3H1|SUMO-3|Smt3B	21q22.3	small ubiquitin like modifier 3	This gene encodes a member of the small ubiquitin-related modifier (SUMO) family of eukaryotic proteins. The encoded protein is covalently conjugated to other proteins via a post-translation modification known as sumoylation. Sumoylation may play a role in a wide variety of cellular processes, including nuclear transport, DNA replication and repair, mitosis, transcriptional regulation, and signal transduction. Alternatively spliced transcript variants encoding distinct proteins have been described. [provided by RefSeq, Feb 2014]
SUN1	chr7	816615	896435	+	ENSG00000164828.17	protein_coding	UNC84A	7p22.3	Sad1 and UNC84 domain containing 1	This gene is a member of the unc-84 homolog family and encodes a nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2019]
SUN2	chr22	38734725	38794143	-	ENSG00000100242.15	protein_coding	UNC84B|rab5IP	22q13.1	Sad1 and UNC84 domain containing 2	SUN1 (MIM 607723) and SUN2 are inner nuclear membrane (INM) proteins that play a major role in nuclear-cytoplasmic connection by formation of a bridge across the nuclear envelope, known as the LINC complex, via interaction with the conserved luminal KASH domain of nesprins (e.g., SYNE1; MIM 608441) located in the outer nuclear membrane (ONM). The LINC complex provides a direct connection between the nuclear lamina and the cytoskeleton, which contributes to nuclear positioning and cellular rigidity (summary by Haque et al., 2010 [PubMed 19933576]).[supplied by OMIM, Nov 2010]
SUOX	chr12	55997180	56006641	+	ENSG00000139531.12	protein_coding	-	12q13.2	sulfite oxidase	Ubiquitous expression in kidney (RPKM 16.6), liver (RPKM 11.2) and 24 other tissues
SUPT20H	chr13	37009312	37059713	-	ENSG00000102710.19	protein_coding	C13|C13orf19|FAM48A|FP757|P38IP|SPT20	13q13.3	SPT20 homolog, SAGA complex component	Broad expression in testis (RPKM 29.4), endometrium (RPKM 11.5) and 25 other tissues
SUPT3H	chr6	44809317	45377953	-	ENSG00000196284.15	protein_coding	SPT3|SPT3L	6p21.1	SPT3 homolog, SAGA and STAGA complex component	Ubiquitous expression in testis (RPKM 1.4), ovary (RPKM 1.0) and 24 other tissues
SUPT4H1	chr17	58345175	58353093	-	ENSG00000213246.6	protein_coding	SPT4|SPT4H|SUPT4H|Supt4a	17q22	SPT4 homolog, DSIF elongation factor subunit	This gene encodes the small subunit of DRB (5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole) sensitivity-inducing factor (DSIF) complex, which regulates mRNA processing and transcription elongation by RNA polymerase II. The encoded protein is localized to the nucleus and interacts with the large subunit (SUPT5H) to form the DSIF complex. Related pseudogenes have been identified on chromosomes 2 and 12. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2012]
SUPT5H	chr19	39436156	39476670	+	ENSG00000196235.13	protein_coding	SPT5|SPT5H|Tat-CT1	19q13.2	SPT5 homolog, DSIF elongation factor subunit	Ubiquitous expression in testis (RPKM 64.5), bone marrow (RPKM 32.4) and 25 other tissues
SUPT6H	chr17	28662091	28702684	+	ENSG00000109111.14	protein_coding	SPT6|SPT6H|emb-5	17q11.2	SPT6 homolog, histone chaperone and transcription elongation factor	Enables histone binding activity. Involved in negative regulation of histone H3-K27 methylation and positive regulation of transcription elongation from RNA polymerase II promoter. Predicted to be located in nucleoplasm. Predicted to be part of transcription elongation factor complex. Predicted to be active in transcriptionally active chromatin. [provided by Alliance of Genome Resources, Apr 2022]
SUPT7L	chr2	27650812	27663840	-	ENSG00000119760.15	protein_coding	SPT7L|STAF65|STAF65(gamma)|STAF65G|SUPT7H	2p23.3	SPT7 like, STAGA complex subunit gamma	SUPT7L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009]
SUPV3L1	chr10	69180232	69209099	+	ENSG00000156502.13	protein_coding	SUV3	10q22.1	Suv3 like RNA helicase	Ubiquitous expression in testis (RPKM 11.2), bone marrow (RPKM 8.5) and 25 other tissues
SURF1	chr9	133351755	133356676	-	ENSG00000148290.9	protein_coding	CMT4K|MC4DN1|SHY1	9q34.2	SURF1 cytochrome c oxidase assembly factor	This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008]
SURF2	chr9	133356552	133361169	+	ENSG00000148291.9	protein_coding	SURF-2	9q34.2	surfeit 2	This gene shares a bidirectional promoter with surfeit 1 (SURF1; GeneID: 6834), which is located on the opposite strand. It encodes a conserved protein that is expressed in a variety of tissues. [provided by RefSeq, Jul 2013]
SURF4	chr9	133361449	133376166	-	ENSG00000148248.13	protein_coding	ERV29	9q34.2	surfeit 4	This gene is located in the surfeit gene cluster, which is comprised of very tightly linked housekeeping genes that do not share sequence similarity. The encoded protein is a conserved integral membrane protein that interacts with endoplasmic reticulum-Golgi intermediate compartment proteins. Disruption of this gene results in reduced numbers of endoplasmic reticulum-Golgi intermediate compartment clusters and redistribution of coat protein I to the cytosol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
SURF6	chr9	133328774	133336398	-	ENSG00000148296.6	protein_coding	RRP14	9q34.2	surfeit 6	This gene encodes a conserved protein that is localized to the nucleolus. The encoded protein may function as a nucleolar-matrix protein with nucleic acid-binding properties. There is a pseudogene for this gene on chromosome Y. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
SUSD1	chr9	112040785	112175408	-	ENSG00000106868.16	protein_coding	-	9q31.3-q32	sushi domain containing 1	-
SUSD2	chr22	24181259	24189110	+	ENSG00000099994.10	protein_coding	BK65A6.2|W5C5	22q11.23	sushi domain containing 2	Biased expression in lung (RPKM 80.9), kidney (RPKM 36.6) and 4 other tissues
SUSD3	chr9	93058688	93085138	+	ENSG00000157303.10	protein_coding	-	9q22.31	sushi domain containing 3	-
SUSD5	chr3	33150042	33219215	-	ENSG00000173705.8	protein_coding	-	3p22.3	sushi domain containing 5	-
SUSD6	chr14	69611596	69715142	+	ENSG00000100647.7	protein_coding	DRAGO|KIAA0247	14q24.1	sushi domain containing 6	Ubiquitous expression in bone marrow (RPKM 26.4), appendix (RPKM 20.7) and 25 other tissues
SUV39H1	chrX	48695554	48709012	+	ENSG00000101945.16	protein_coding	H3-K9-HMTase 1|KMT1A|MG44|SUV39H	Xp11.23	SUV39H1 histone lysine methyltransferase	This gene encodes an evolutionarily-conserved protein containing an N-terminal chromodomain and a C-terminal SET domain. The encoded protein is a histone methyltransferase that trimethylates lysine 9 of histone H3, which results in transcriptional gene silencing. Loss of function of this gene disrupts heterochromatin formation and may cause chromosome instability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
SUV39H2	chr10	14878820	14904315	+	ENSG00000152455.15	protein_coding	KMT1B	10p13	SUV39H2 histone lysine methyltransferase	Broad expression in testis (RPKM 10.3), lymph node (RPKM 2.1) and 23 other tissues
SUZ12	chr17	31937018	32001045	+	ENSG00000178691.10	protein_coding	CHET9|IMMAS|JJAZ1	17q11.2	SUZ12 polycomb repressive complex 2 subunit	This zinc finger gene has been identified at the breakpoints of a recurrent chromosomal translocation reported in endometrial stromal sarcoma. Recombination of these breakpoints results in the fusion of this gene and JAZF1. The protein encoded by this gene contains a zinc finger domain in the C terminus of the coding region. [provided by RefSeq, Jul 2009]
SUZ12P1	chr17	30709299	30790908	+	ENSG00000264538.6	transcribed_unprocessed_pseudogene	SUZ12P	17q11.2	SUZ12 pseudogene 1	-
SV2A	chr1	149903318	149917882	-	ENSG00000159164.9	protein_coding	SV2	1q21.2	synaptic vesicle glycoprotein 2A	The protein encoded by this gene is one of three related synaptic vesicle proteins. The encoded protein may interact with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. [provided by RefSeq, Jun 2016]
SVBP	chr1	42807052	42817252	-	ENSG00000177868.11	protein_coding	CCDC23|NEDAHM	1p34.2	small vasohibin binding protein	Ubiquitous expression in testis (RPKM 21.3), fat (RPKM 15.7) and 24 other tissues
SVEP1	chr9	110365251	110579880	-	ENSG00000165124.17	protein_coding	C9orf13|CCP22|POLYDOM|SEL-OB|SELOB	9q31.3	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	Biased expression in placenta (RPKM 31.0), fat (RPKM 15.2) and 13 other tissues
SVIL	chr10	29457338	29736781	-	ENSG00000197321.14	protein_coding	MFM10	10p11.23	supervillin	This gene encodes a bipartite protein with distinct amino- and carboxy-terminal domains. The amino-terminus contains nuclear localization signals and the carboxy-terminus contains numerous consecutive sequences with extensive similarity to proteins in the gelsolin family of actin-binding proteins, which cap, nucleate, and/or sever actin filaments. The gene product is tightly associated with both actin filaments and plasma membranes, suggesting a role as a high-affinity link between the actin cytoskeleton and the membrane. The encoded protein appears to aid in both myosin II assembly during cell spreading and disassembly of focal adhesions. Several transcript variants encoding different isoforms of supervillin have been described. [provided by RefSeq, Apr 2016]
SVIL2P	chr10	 30692274	30717013	+	-	pseudogene	SVILP1	10p11.23	supervillin family member 2, pseudogene	Broad expression in endometrium (RPKM 1.2), gall bladder (RPKM 0.9) and 22 other tissues
SVOP	chr12	108907741	109021240	-	ENSG00000166111.9	protein_coding	-	12q24.11	SV2 related protein	Biased expression in brain (RPKM 14.1) and adrenal (RPKM 0.9)
SWAP70	chr11	9664077	9752991	+	ENSG00000133789.14	protein_coding	HSPC321|SWAP-70	11p15.4	switching B cell complex subunit SWAP70	Ubiquitous expression in lymph node (RPKM 33.7), spleen (RPKM 30.6) and 24 other tissues
SWI5	chr9	128275379	128288990	+	ENSG00000175854.11	protein_coding	C9orf119|SAE3	9q34.11	SWI5 homologous recombination repair protein	Involved in cellular response to ionizing radiation and double-strand break repair via homologous recombination. Part of Swi5-Sfr1 complex. [provided by Alliance of Genome Resources, Apr 2022]
SWSAP1	chr19	11374685	11376951	+	ENSG00000173928.2	protein_coding	C19orf39|SWS1AP1|ZSWIM7AP1	19p13.2	SWIM-type zinc finger 7 associated protein 1	Ubiquitous expression in spleen (RPKM 1.9), testis (RPKM 1.7) and 25 other tissues
SWT1	chr1	185157080	185291765	+	ENSG00000116668.12	protein_coding	C1orf26|HsSwt1	1q25.3	SWT1 RNA endoribonuclease homolog	Broad expression in testis (RPKM 13.8), bone marrow (RPKM 2.1) and 20 other tissues
SYAP1	chrX	16719632	16765336	+	ENSG00000169895.5	protein_coding	BSTA|PRO3113	Xp22.2	synapse associated protein 1	Ubiquitous expression in adrenal (RPKM 23.9), colon (RPKM 16.3) and 25 other tissues
SYCE2	chr19	12898786	12919276	-	ENSG00000161860.7	protein_coding	CESC1	19p13.13	synaptonemal complex central element protein 2	The protein encoded by this gene is part of the synaptonemal complex formed between homologous chromosomes during meiotic prophase. The encoded protein associates with SYCP1 and SYCE1 and is found only where chromosome cores are synapsed. [provided by RefSeq, Dec 2012]
SYCN	chr19	39202831	39204266	-	ENSG00000179751.6	protein_coding	INSSA1|SYL	19q13.2	syncollin	Restricted expression toward pancreas (RPKM 2575.3)
SYCP1	chr1	114854803	114995370	+	ENSG00000198765.11	protein_coding	CT8|HOM-TES-14|SCP-1|SCP1	1p13.2	synaptonemal complex protein 1	Restricted expression toward testis (RPKM 18.8)
SYCP2	chr20	59863563	59933655	-	ENSG00000196074.12	protein_coding	SCP-2|SCP2|SPGF1	20q13.33	synaptonemal complex protein 2	The synaptonemal complex is a proteinaceous structure that links homologous chromosomes during the prophase of meiosis. The protein encoded by this gene is a major component of the synaptonemal complex and may bind DNA at scaffold attachment regions. The encoded protein requires synaptonemal complex protein 3, but not 1, for inclusion in the synaptonemal complex. [provided by RefSeq, Jul 2008]
SYCP2L	chr6	10886831	10979320	+	ENSG00000153157.12	protein_coding	C6orf177|NO145|dJ62D2.1	6p24.2	synaptonemal complex protein 2 like	Broad expression in testis (RPKM 2.2), placenta (RPKM 0.6) and 16 other tissues
SYCP3	chr12	101728648	101739472	-	ENSG00000139351.14	protein_coding	COR1|RPRGL4|SCP3|SPGF4	12q23.2	synaptonemal complex protein 3	This gene encodes an essential structural component of the synaptonemal complex. This complex is involved in synapsis, recombination and segregation of meiotic chromosomes. Mutations in this gene are associated with azoospermia in males and susceptibility to pregnancy loss in females. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2010]
SYDE2	chr1	85156873	85201046	-	ENSG00000097096.8	protein_coding	-	1p22.3	synapse defective Rho GTPase homolog 2	-
SYF2	chr1	25222679	25232502	-	ENSG00000117614.9	protein_coding	CBPIN|NTC31|P29|fSAP29	1p36.11	SYF2 pre-mRNA splicing factor	This gene encodes a nuclear protein that interacts with cyclin D-type binding-protein 1, which is thought to be a cell cycle regulator at the G1/S transition. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
SYK	chr9	90801787	90898549	+	ENSG00000165025.14	protein_coding	IMD82|p72-Syk	9q22.2	spleen associated tyrosine kinase	This gene encodes a member of the family of non-receptor type Tyr protein kinases. This protein is widely expressed in hematopoietic cells and is involved in coupling activated immunoreceptors to downstream signaling events that mediate diverse cellular responses, including proliferation, differentiation, and phagocytosis. It is thought to be a modulator of epithelial cell growth and a potential tumour suppressor in human breast carcinomas. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
SYMPK	chr19	45815410	45863290	-	ENSG00000125755.18	protein_coding	Pta1|SPK|SYM	19q13.32	symplekin scaffold protein	This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008]
SYN2	chr3	12004402	12191400	+	ENSG00000157152.16	protein_coding	SYNII	3p25.2	synapsin II	This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family encodes a neuron-specific phosphoprotein that selectively binds to small synaptic vesicles in the presynaptic nerve terminal. Polymorphisms in this gene are associated with abnormal presynaptic function and related neuronal disorders, including autism, epilepsy, bipolar disorder and schizophrenia. Alternative splicing of this gene results in multiple transcript variants. The tissue inhibitor of metalloproteinase 4 gene is located within an intron of this gene and is transcribed in the opposite direction. [provided by RefSeq, Feb 2014]
SYN3	chr22	32512552	33058372	-	ENSG00000185666.14	protein_coding	-	22q12.3	synapsin III	Biased expression in brain (RPKM 2.3), testis (RPKM 0.7) and 6 other tissues
SYNC	chr1	32680360	32703596	-	ENSG00000162520.14	protein_coding	SYNC1|SYNCOILIN	1p35.1	syncoilin, intermediate filament protein	This gene encodes a member of the intermediate filament family which contains an N-terminal head domain, followed by a central coiled-coil region and a short C-terminal tail. The protein is highly expressed in skeletal and cardiac muscle. The protein links the dystrophin associated protein complex (DAPC) to desmin filaments in muscle and may have a structural role in striated muscle. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
SYNCRIP	chr6	85607785	85643792	-	ENSG00000135316.17	protein_coding	GRY-RBP|GRYRBP|HNRNPQ|HNRPQ1|NSAP1|PP68|hnRNP-Q	6q14.3	synaptotagmin binding cytoplasmic RNA interacting protein	This gene encodes a member of the cellular heterogeneous nuclear ribonucleoprotein (hnRNP) family. hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA) and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. The encoded protein plays a role in multiple aspects of mRNA maturation and is associated with several multiprotein complexes including the apoB RNA editing-complex and survival of motor neurons (SMN) complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 20. [provided by RefSeq, Dec 2011]
SYNDIG1L	chr14	74405893	74426102	-	ENSG00000183379.8	protein_coding	CAPUCIN|DSPC1|IFITMD4|TMEM90A	14q24.3	synapse differentiation inducing 1 like	Low expression observed in reference dataset
SYNE2	chr14	63852983	64226433	+	ENSG00000054654.16	protein_coding	EDMD5|KASH2|NUA|NUANCE|Nesp2|Nesprin-2|SYNE-2|TROPH	14q23.2	spectrin repeat containing nuclear envelope protein 2	The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
SYNE3	chr14	95407266	95475836	-	ENSG00000176438.12	protein_coding	C14orf139|C14orf49|KASH3|LINC00341|NCRNA00341|NET53|Nesp3	14q32.13	spectrin repeat containing nuclear envelope family member 3	Enables actin filament binding activity and cytoskeleton-nuclear membrane anchor activity. Involved in cytoskeleton organization; establishment of protein localization to membrane; and regulation of cell shape. Located in nuclear membrane. Part of meiotic nuclear membrane microtubule tethering complex. Biomarker of Huntingtons disease. [provided by Alliance of Genome Resources, Apr 2022]
SYNGAP1	chr6	33419661	33457541	+	ENSG00000197283.14	protein_coding	MRD5|RASA1|RASA5|SYNGAP	6p21.32	synaptic Ras GTPase activating protein 1	This gene encodes a Ras GTPase activating protein that is a member of the N-methyl-D-aspartate receptor complex. The N-terminal domain of the protein contains a Ras-GAP domain, a pleckstrin homology domain, and a C2 domain that may be involved in binding of calcium and phospholipids. The C-terminal domain consists of a ten histidine repeat region, serine and tyrosine phosphorylation sites, and a T/SXV motif required for postsynaptic scaffold protein interaction. The encoded protein negatively regulates Ras, Rap and alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor trafficking to the postsynaptic membrane to regulate synaptic plasticity and neuronal homeostasis. Allelic variants of this gene are associated with intellectual disability and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
SYNGR1	chr22	39349925	39385588	+	ENSG00000100321.14	protein_coding	-	22q13.1	synaptogyrin 1	Biased expression in brain (RPKM 53.1), ovary (RPKM 17.1) and 11 other tissues
SYNGR2	chr17	78168558	78173527	+	ENSG00000108639.7	protein_coding	-	17q25.3	synaptogyrin 2	Ubiquitous expression in prostate (RPKM 65.0), lung (RPKM 62.5) and 25 other tissues
SYNGR3	chr16	1989660	1994275	+	ENSG00000127561.14	protein_coding	-	16p13.3	synaptogyrin 3	Biased expression in brain (RPKM 26.0), adrenal (RPKM 4.5) and 2 other tissues
SYNJ1	chr21	32628759	32728048	-	ENSG00000159082.17	protein_coding	DEE53|EIEE53|INPP5G|PARK20	21q22.11	synaptojanin 1	This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
SYNJ2BP	chr14	70366496	70417061	-	ENSG00000213463.4	protein_coding	ARIP2|OMP25	14q24.2	synaptojanin 2 binding protein	Ubiquitous expression in kidney (RPKM 23.3), duodenum (RPKM 20.4) and 24 other tissues
SYNM	chr15	99098217	99135593	+	ENSG00000182253.14	protein_coding	DMN|SYN	15q26.3	synemin	The protein encoded by this gene is an intermediate filament (IF) family member. IF proteins are cytoskeletal proteins that confer resistance to mechanical stress and are encoded by a dispersed multigene family. This protein has been found to form a linkage between desmin, which is a subunit of the IF network, and the extracellular matrix, and provides an important structural support in muscle. Two alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
SYNPO2	chr4	118850688	119061247	+	ENSG00000172403.10	protein_coding	-	4q26	synaptopodin 2	-
SYNPO2L	chr10	73644881	73663803	-	ENSG00000166317.11	protein_coding	-	10q22.2	synaptopodin 2 like	-
SYNRG	chr17	37514797	37609496	-	ENSG00000275066.4	protein_coding	AP1GBP1|SYNG	17q12	synergin gamma	This gene encodes a protein that interacts with the gamma subunit of AP1 clathrin-adaptor complex. The AP1 complex is located at the trans-Golgi network and associates specific proteins with clathrin-coated vesicles. This encoded protein may act to connect the AP1 complex to other proteins. Alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
SYPL1	chr7	106090503	106112576	-	ENSG00000008282.8	protein_coding	H-SP1|SYPL	7q22.3	synaptophysin like 1	Ubiquitous expression in thyroid (RPKM 63.3), esophagus (RPKM 56.9) and 25 other tissues
SYPL2	chr1	109466628	109482137	+	ENSG00000143028.8	protein_coding	MG29	1p13.3	synaptophysin like 2	Broad expression in kidney (RPKM 4.9), testis (RPKM 4.8) and 20 other tissues
SYS1-DBNDD2	chr20	45363200	45410610	+	ENSG00000254806.5	protein_coding	C20orf169-DBNDD2	20q13.12	SYS1-DBNDD2 readthrough (NMD candidate)	This locus represents naturally occurring read-through transcription from the neighboring SYS1 Golgi-localized integral membrane protein homolog and dysbindin domain containing 2 (DBNDD2) genes. The read-through transcript includes the majority of exons from each individual gene, but it would be subject to nonsense-mediated mRNA decay (NMD) and is therefore predicted to be non-coding. [provided by RefSeq, Oct 2010]
SYT1	chr12	78863993	79452008	+	ENSG00000067715.13	protein_coding	BAGOS|P65|SVP65|SYT	12q21.2	synaptotagmin 1	The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the synapse (Fernandez-Chacon et al., 2001 [PubMed 11242035]).[supplied by OMIM, Jul 2010]
SYT10	chr12	33374238	33439819	-	ENSG00000110975.8	protein_coding	-	12p11.1	synaptotagmin 10	-
SYT11	chr1	155859509	155885199	+	ENSG00000132718.8	protein_coding	SYT12|sytXI	1q22	synaptotagmin 11	This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that are known calcium sensors and mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. The encoded protein is also a substrate for ubiquitin-E3-ligase parkin. The gene has previously been referred to as synaptotagmin XII but has been renamed synaptotagmin XI to be consistent with mouse and rat official nomenclature. [provided by RefSeq, Apr 2010]
SYT13	chr11	45240301	45286319	-	ENSG00000019505.7	protein_coding	-	11p11.2	synaptotagmin 13	Biased expression in brain (RPKM 27.1), gall bladder (RPKM 14.8) and 7 other tissues
SYT14	chr1	209938174	210171389	+	ENSG00000143469.18	protein_coding	SCAR11|sytXIV	1q32.2	synaptotagmin 14	This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Dec 2011]
SYT14P1	chr4	68061822	68063269	-	ENSG00000215127.6	transcribed_processed_pseudogene	CHR415SYT|SYT14L|SYTDEP	4q13.2	synaptotagmin 14 pseudogene 1	Involved in positive regulation of CREB transcription factor activity; positive regulation of ERK1 and ERK2 cascade; and positive regulation of dendrite extension. [provided by Alliance of Genome Resources, Apr 2022]
SYT15	chr10	46578217	46594173	+	ENSG00000204176.13	protein_coding	CHR10SYT|sytXV	10q11.22	synaptotagmin 15	This gene encodes a member of the Synaptotagmin (Syt) family of membrane trafficking proteins. Members of this family contain a transmembrane region and a C-terminal-type tandem C2 domain. Unlike related family members, the encoded protein may be involved in membrane trafficking in non-neuronal tissues. Two trancript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
SYT17	chr16	19167971	19268334	+	ENSG00000103528.16	protein_coding	Syt-17|sytXVII	16p12.3	synaptotagmin 17	Broad expression in brain (RPKM 8.9), prostate (RPKM 3.0) and 15 other tissues
SYT2	chr1	202590596	202710417	-	ENSG00000143858.11	protein_coding	CMS7|CMS7A|CMS7B|MYSPC|SytII	1q32.1	synaptotagmin 2	This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
SYT3	chr19	50621307	50639827	-	ENSG00000213023.10	protein_coding	SytIII	19q13.33	synaptotagmin 3	Predicted to enable several functions, including phospholipid binding activity; protein dimerization activity; and syntaxin binding activity. Involved in positive regulation of dendrite extension. Located in endosome. [provided by Alliance of Genome Resources, Apr 2022]
SYT4	chr18	43267878	43277650	-	ENSG00000132872.11	protein_coding	HsT1192	18q12.3	synaptotagmin 4	Predicted to enable several functions, including calcium ion binding activity; phospholipid binding activity; and syntaxin binding activity. Involved in negative regulation of catecholamine secretion and positive regulation of dendrite extension. Predicted to be located in several cellular components, including microvesicle; perinuclear region of cytoplasm; and secretory vesicle. Predicted to be active in several cellular components, including axon; exocytic vesicle; and glutamatergic synapse. Predicted to be integral component of neuronal dense core vesicle membrane. [provided by Alliance of Genome Resources, Apr 2022]
SYT5	chr19	55171199	55180441	-	ENSG00000129990.14	protein_coding	-	19q13.42|11p	synaptotagmin 5	Biased expression in brain (RPKM 20.3) and adrenal (RPKM 2.1)
SYT6	chr1	114089291	114153919	-	ENSG00000134207.14	protein_coding	sytVI	1p13.2	synaptotagmin 6	The protein encoded by this gene belongs to the synaptotagmin family. Synaptotagmins share a common domain structure that includes a transmembrane domain and a cytoplasmic region composed of 2 C2 domains, and are involved in calcium-dependent exocytosis of synaptic vesicles. This protein has been shown to be a key component of the secretory machinery involved in acrosomal exocytosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]
SYT7	chr11	61515313	61581148	-	ENSG00000011347.9	protein_coding	IPCA-7|IPCA7|PCANAP7|SYT-VII|SYTVII	11q12.2	synaptotagmin 7	This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate calcium-dependent regulation of membrane trafficking in synaptic transmission. A similar protein in rodents mediates hormone secretion and lysosome exocytosis. In humans, expression of this gene has been associated with prostate cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
SYT8	chr11	1828307	1837521	+	ENSG00000149043.16	protein_coding	-	11p15.5	synaptotagmin 8	Biased expression in skin (RPKM 28.8), urinary bladder (RPKM 7.9) and 5 other tissues
SYTL1	chr1	27342020	27353937	+	ENSG00000142765.17	protein_coding	JFC1|SLP1	1p36.11	synaptotagmin like 1	Broad expression in prostate (RPKM 24.6), skin (RPKM 21.7) and 16 other tissues
SYTL2	chr11	85694224	85811159	-	ENSG00000137501.17	protein_coding	CHR11SYT|EXO4|PPP1R151|SGA72M|SLP2|SLP2A	11q14.1	synaptotagmin like 2	The protein encoded by this gene is a synaptotagmin-like protein (SLP) that belongs to a C2 domain-containing protein family. The SLP homology domain (SHD) of this protein has been shown to specifically bind the GTP-bound form of Ras-related protein Rab-27A (RAB27A). This protein plays a role in RAB27A-dependent vesicle trafficking and controls melanosome distribution in the cell periphery. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jun 2009]
SYTL3	chr6	158650014	158764876	+	ENSG00000164674.15	protein_coding	SLP3	6q25.3	synaptotagmin like 3	The protein encoded by this gene belongs to a family of peripheral membrane proteins that play a role in vesicular trafficking. This protein binds phospholipids in the presence of calcium ions. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
SYVN1	chr11	65121780	65134533	-	ENSG00000162298.18	protein_coding	DER3|HRD1	11q13.1	synoviolin 1	This gene encodes a protein involved in endoplasmic reticulum (ER)-associated degradation. The encoded protein removes unfolded proteins, accumulated during ER stress, by retrograde transport to the cytosol from the ER. This protein also uses the ubiquitin-proteasome system for additional degradation of unfolded proteins. Sequence analysis identified two transcript variants that encode different isoforms. [provided by RefSeq, May 2011]
SZRD1	chr1	16352575	16398145	+	ENSG00000055070.16	protein_coding	C1orf144	1p36.13	SUZ RNA binding domain containing 1	Ubiquitous expression in fat (RPKM 37.2), endometrium (RPKM 33.9) and 25 other tissues
SZT2	chr1	43389882	43454247	+	ENSG00000198198.15	protein_coding	C1orf84|DEE18|EIEE18|KIAA0467|KICS1|SZT2A|SZT2B	1p34.2	SZT2 subunit of KICSTOR complex	The protein encoded by this gene is expressed in the brain, predominantly in the parietal and frontal cortex as well as in dorsal root ganglia. It is localized to the peroxisome, and is implicated in resistance to oxidative stress. It likely functions by increasing superoxide dismutase (SOD) activity, but itself has no direct SOD activity. Studies in mice show that this gene confers low seizure threshold, and may also enhance epileptogenesis. [provided by RefSeq, Jun 2011]
TAB1	chr22	39399741	39437060	+	ENSG00000100324.13	protein_coding	3'-Tab1|MAP3K7IP1	22q13.1	TGF-beta activated kinase 1 (MAP3K7) binding protein 1	The protein encoded by this gene was identified as a regulator of the MAP kinase kinase kinase MAP3K7/TAK1, which is known to mediate various intracellular signaling pathways, such as those induced by TGF beta, interleukin 1, and WNT-1. This protein interacts and thus activates TAK1 kinase. It has been shown that the C-terminal portion of this protein is sufficient for binding and activation of TAK1, while a portion of the N-terminus acts as a dominant-negative inhibitor of TGF beta, suggesting that this protein may function as a mediator between TGF beta receptors and TAK1. This protein can also interact with and activate the mitogen-activated protein kinase 14 (MAPK14/p38alpha), and thus represents an alternative activation pathway, in addition to the MAPKK pathways, which contributes to the biological responses of MAPK14 to various stimuli. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
TAB2	chr6	149218641	149411613	+	ENSG00000055208.18	protein_coding	CHTD2|MAP3K7IP2|TAB-2	6q25.1	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	The protein encoded by this gene is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adaptor that links MAP3K7 and TRAF6. This protein, along with TAB1 and MAP3K7, also participates in the signal transduction induced by TNFSF11/RANKl through the activation of the receptor activator of NF-kappaB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. Studies of the related mouse protein indicate that it functions to protect against liver damage caused by chemical stressors. Mutations in this gene cause congenital heart defects, multiple types, 2 (CHTD2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
TAB3	chrX	30827442	30975084	-	ENSG00000157625.15	protein_coding	MAP3K7IP3|NAP1	Xp21.2	TGF-beta activated kinase 1 (MAP3K7) binding protein 3	The product of this gene functions in the NF-kappaB signal transduction pathway. The encoded protein, and the similar and functionally redundant protein MAP3K7IP2/TAB2, forms a ternary complex with the protein kinase MAP3K7/TAK1 and either TRAF2 or TRAF6 in response to stimulation with the pro-inflammatory cytokines TNF or IL-1. Subsequent MAP3K7/TAK1 kinase activity triggers a signaling cascade leading to activation of the NF-kappaB transcription factor. The human genome contains a related pseudogene. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
TAC1	chr7	97731908	97740472	+	ENSG00000006128.11	protein_coding	Hs.2563|NK2|NKNA|NPK|TAC2	7q21.3	tachykinin precursor 1	This gene encodes four products of the tachykinin peptide hormone family, substance P and neurokinin A, as well as the related peptides, neuropeptide K and neuropeptide gamma. These hormones are thought to function as neurotransmitters which interact with nerve receptors and smooth muscle cells. They are known to induce behavioral responses and function as vasodilators and secretagogues. Substance P is an antimicrobial peptide with antibacterial and antifungal properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
TAC3	chr12	57010000	57028883	-	ENSG00000166863.11	protein_coding	HH10|LncZBTB39|NK3|NKB|NKNB|PRO1155|ZNEUROK1	12q13.3	tachykinin precursor 3	This gene encodes a member of the tachykinin family of secreted neuropeptides. The encoded preproprotein is proteolytically processed to generate the mature peptide, which is primarily expressed in the central and peripheral nervous systems and functions as a neurotransmitter. This peptide is the ligand for the neurokinin-3 receptor. This protein is also expressed in the outer syncytiotrophoblast of the placenta and may be associated with pregnancy-induced hypertension and pre-eclampsia. Mutations in this gene are associated with normosmic hypogonadotropic hypogonadism. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
TAC4	chr17	49838309	49848017	-	ENSG00000176358.15	protein_coding	EK|HK-1|HK1|PPT-C	17q21.33	tachykinin precursor 4	This gene is a member of the tachykinin family of neurotransmitter-encoding genes. Tachykinin proteins are cleaved into small, secreted peptides that activate members of a family of receptor proteins. The products of this gene preferentially activate tachykinin receptor 1, and are thought to regulate peripheral endocrine and paracrine functions including blood pressure, the immune system, and endocrine gland secretion. The products of this gene lack a dibasic cleavage site found in other tachykinin proteins. Consequently, the nature of the cleavage products generated in vivo remains to be determined. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
TACC1	chr8	38728186	38853028	+	ENSG00000147526.19	protein_coding	Ga55	8p11.22	transforming acidic coiled-coil containing protein 1	This locus may represent a breast cancer candidate gene. It is located close to FGFR1 on a region of chromosome 8 that is amplified in some breast cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]
TACC2	chr10	121989174	122254545	+	ENSG00000138162.18	protein_coding	AZU-1|ECTACC	10q26.13	transforming acidic coiled-coil containing protein 2	Transforming acidic coiled-coil proteins are a conserved family of centrosome- and microtubule-interacting proteins that are implicated in cancer. This gene encodes a protein that concentrates at centrosomes throughout the cell cycle. This gene lies within a chromosomal region associated with tumorigenesis. Expression of this gene is induced by erythropoietin and is thought to affect the progression of breast tumors. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
TACC3	chr4	1721490	1745176	+	ENSG00000013810.18	protein_coding	ERIC-1|ERIC1|Tacc4|maskin	4p16.3	transforming acidic coiled-coil containing protein 3	This gene encodes a member of the transforming acidic colied-coil protein family. The encoded protein is a motor spindle protein that may play a role in stabilization of the mitotic spindle. This protein may also play a role in growth a differentiation of certain cancer cells. [provided by RefSeq, Nov 2011]
TACO1	chr17	63600872	63608365	+	ENSG00000136463.7	protein_coding	CCDC44|MC4DN8	17q23.3	translational activator of cytochrome c oxidase I	This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.[provided by RefSeq, Mar 2010]
TACR1	chr2	75046463	75199700	-	ENSG00000115353.10	protein_coding	NK1R|NKIR|SPR|TAC1R	2p12	tachykinin receptor 1	This gene belongs to a gene family of tachykinin receptors. These tachykinin receptors are characterized by interactions with G proteins and contain seven hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin substance P, also referred to as neurokinin 1. The encoded protein is also involved in the mediation of phosphatidylinositol metabolism of substance P. [provided by RefSeq, Sep 2008]
TACR2	chr10	69403903	69416867	-	ENSG00000075073.14	protein_coding	NK2R|NKNAR|SKR|TAC2R	10q22.1	tachykinin receptor 2	This gene belongs to a family of genes that function as receptors for tachykinins.  Receptor affinities are specified by variations in the 5-end of the sequence.  The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions.  This gene encodes the receptor for the tachykinin neuropeptide substance K, also referred to as neurokinin A. [provided by RefSeq, Jul 2008]
TACR3	chr4	103586031	103719816	-	ENSG00000169836.4	protein_coding	HH11|NK-3R|NK3|NK3R|NKR|TAC3R|TAC3RL	4q24	tachykinin receptor 3	This gene belongs to a family of genes that function as receptors for tachykinins.  Receptor affinities are specified by variations in the 5-end of the sequence.  The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions.  This gene encodes the receptor for the tachykinin neurokinin 3, also referred to as neurokinin B. [provided by RefSeq, Jul 2008]
TACSTD2	chr1	58575423	58577773	-	ENSG00000184292.6	protein_coding	EGP-1|EGP1|GA733-1|GA7331|GP50|M1S1|TROP2	1p32.1	tumor associated calcium signal transducer 2	This intronless gene encodes a carcinoma-associated antigen. This antigen is a cell surface receptor that transduces calcium signals. Mutations of this gene have been associated with gelatinous drop-like corneal dystrophy.[provided by RefSeq, Dec 2009]
TADA1	chr1	166856510	166876327	-	ENSG00000152382.5	protein_coding	ADA1|HFI1|STAF42|TADA1L|hADA1	1q24.1	transcriptional adaptor 1	TADA1L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009]
TADA2A	chr17	37406874	37479730	+	ENSG00000276234.4	protein_coding	ADA2|ADA2A|KL04P|TADA2L|hADA2	17q12	transcriptional adaptor 2A	Many DNA-binding transcriptional activator proteins enhance the initiation rate of RNA polymerase II-mediated gene transcription by interacting functionally with the general transcription machinery bound at the basal promoter. Adaptor proteins are usually required for this activation, possibly to acetylate and destabilize nucleosomes, thereby relieving chromatin constraints at the promoter. The protein encoded by this gene is a transcriptional activator adaptor and has been found to be part of the PCAF histone acetylase complex. Several alternatively spliced transcript variants encoding different isoforms of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2009]
TADA2B	chr4	7041899	7057952	+	ENSG00000173011.11	protein_coding	ADA2(beta)|ADA2B	4p16.1	transcriptional adaptor 2B	TADA2B functions as a transcriptional adaptor protein that potentiates transcription through coordination of histone acetyltransferase (HAT) activity and by linking activation factors to basal transcriptional machinery (Barlev et al., 2003 [PubMed 12972612]).[supplied by OMIM, Apr 2010]
TADA3	chr3	9779860	9793011	-	ENSG00000171148.13	protein_coding	ADA3|NGG1|STAF54|TADA3L|hADA3	3p25.3	transcriptional adaptor 3	DNA-binding transcriptional activator proteins increase the rate of transcription by interacting with the transcriptional machinery bound to the basal promoter in conjunction with adaptor proteins, possibly by acetylation and destabilization of nucleosomes. The protein encoded by this gene is a transcriptional activator adaptor and a component of the histone acetyl transferase (HAT) coactivator complex which plays a crucial role in chromatin modulation and cell cycle progression. Along with the other components of the complex, this protein links transcriptional activators bound to specific promoters, to histone acetylation and the transcriptional machinery. The protein is also involved in the stabilization and activation of the p53 tumor suppressor protein that plays a role in the cellular response to DNA damage. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
TAF11	chr6	34877778	34888089	-	ENSG00000064995.16	protein_coding	MGC:15243|PRO2134|TAF2I|TAFII28	6p21.31	TATA-box binding protein associated factor 11	Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a small subunit of TFIID that is present in all TFIID complexes and interacts with TBP. This subunit also interacts with another small subunit, TAF13, to form a heterodimer with a structure similar to the histone core structure. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
TAF12-DT	chr1	 28643256	28648801	+	ENSG00000229388	ncRNA	LINC01715	1p35.3	TAF12 divergent transcript	-
TAF13	chr1	109062486	109076002	-	ENSG00000197780.9	protein_coding	MRT60|TAF(II)18|TAF2K|TAFII-18|TAFII18	1p13.3	TATA-box binding protein associated factor 13	Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a small subunit associated with a subset of TFIID complexes. This subunit interacts with TBP and with two other small subunits of TFIID, TAF10 and TAF11. There is a pseudogene located on chromosome 6. [provided by RefSeq, Jul 2008]
TAF15	chr17	35713791	35864615	+	ENSG00000270647.5	protein_coding	Npl3|RBP56|TAF2N|TAFII68	17q12	TATA-box binding protein associated factor 15	This gene encodes a member of the TET family of RNA-binding proteins. The encoded protein plays a role in RNA polymerase II gene transcription as a component of a distinct subset of multi-subunit transcription initiation factor TFIID complexes. Translocations involving this gene play a role in acute leukemia and extraskeletal myxoid chondrosarcoma, and mutations in this gene may play a role in amyotrophic lateral sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
TAF1A	chr1	222557902	222589933	-	ENSG00000143498.17	protein_coding	MGC:17061|RAFI48|SL1|TAFI48	1q41	TATA-box binding protein associated factor, RNA polymerase I subunit A	This gene encodes a subunit of the RNA polymerase I complex, Selectivity Factor I (SLI). The encoded protein is a TATA box-binding protein-associated factor that plays a role in the assembly of the RNA polymerase I preinitiation complex. Alternate splicing results in multiple transcript variants encoding multiple isoforms.[provided by RefSeq, Jan 2011]
TAF1B	chr2	9843354	9934416	+	ENSG00000115750.16	protein_coding	MGC:9349|RAF1B|RAFI63|SL1|TAFI63	2p25.1	TATA-box binding protein associated factor, RNA polymerase I subunit B	Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes one of the SL1-specific TAFs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
TAF1C	chr16	84177847	84187070	-	ENSG00000103168.16	protein_coding	MGC:39976|SL1|TAFI110|TAFI95	16q24.1	TATA-box binding protein associated factor, RNA polymerase I subunit C	Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes the largest SL1-specific TAF. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2011]
TAF1D	chr11	93729948	93784391	-	ENSG00000166012.16	protein_coding	JOSD3|RAFI41|TAF(I)41|TAFI41	11q21	TATA-box binding protein associated factor, RNA polymerase I subunit D	TAF1D is a member of the SL1 complex, which includes TBP (MIM 600075) and TAF1A (MIM 604903), TAF1B (MIM 604904), and TAF1C (MIM 604905), and plays a role in RNA polymerase I transcription (Wang et al., 2004 [PubMed 15520167]; Gorski et al., 2007 [PubMed 17318177]).[supplied by OMIM, Jun 2009]
TAF2	chr8	119730775	119832863	-	ENSG00000064313.11	protein_coding	CIF150|MRT40|TAF2B|TAFII150	8q24.12	TATA-box binding protein associated factor 2	Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq, Jul 2008]
TAF4	chr20	61953469	62065810	-	ENSG00000130699.18	protein_coding	TAF(II)130|TAF(II)135|TAF2C|TAF2C1|TAF4A|TAFII-130|TAFII-135|TAFII130|TAFII135	20q13.33	TATA-box binding protein associated factor 4	Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008]
TAF4B	chr18	26225936	26391685	+	ENSG00000141384.12	protein_coding	SPGF13|TAF2C2|TAFII105	18q11.2	TATA-box binding protein associated factor 4b	TATA binding protein (TBP) and TBP-associated factors (TAFs) participate in the formation of the TFIID protein complex, which is involved in initiation of transcription of genes by RNA polymerase II. This gene encodes a cell type-specific TAF that may be responsible for mediating transcription by a subset of activators in B cells. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
TAF5	chr10	103367967	103389065	+	ENSG00000148835.10	protein_coding	TAF(II)100|TAF2D|TAFII-100|TAFII100	10q24.33	TATA-box binding protein associated factor 5	Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes an integral subunit of TFIID associated with all transcriptionally competent forms of that complex. This subunit interacts strongly with two TFIID subunits that show similarity to histones H3 and H4, and it may participate in forming a nucleosome-like core in the TFIID complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
TAF5L	chr1	229593111	229626047	-	ENSG00000135801.9	protein_coding	PAF65B	1q42.13	TATA-box binding protein associated factor 5 like	The product of this gene belongs to the WD-repeat TAF5 family of proteins. This gene encodes a protein that is a component of the PCAF histone acetylase complex. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors to facilitate complex assembly and transcription initiation. The encoded protein is structurally similar to one of the histone-like TAFs, TAF5. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
TAF6	chr7	100107070	100119841	-	ENSG00000106290.14	protein_coding	ALYUS|MGC:8964|TAF(II)70|TAF(II)80|TAF2E|TAFII-70|TAFII-80|TAFII70|TAFII80|TAFII85	7q22.1	TATA-box binding protein associated factor 6	Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
TAF6L	chr11	62771303	62787342	+	ENSG00000162227.7	protein_coding	PAF65A	11q12.3	TATA-box binding protein associated factor 6 like	Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a protein that is a component of the PCAF histone acetylase complex and structurally similar to one of the histone-like TAFs, TAF6. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. [provided by RefSeq, Jul 2008]
TAF7	chr5	141260225	141320821	-	ENSG00000178913.7	protein_coding	TAF2F|TAFII55	5q31.3	TATA-box binding protein associated factor 7	The intronless gene for this transcription coactivator is located between the protocadherin beta and gamma gene clusters on chromosome 5. The protein encoded by this gene is a component of the TFIID protein complex, a complex which binds to the TATA box in class II promoters and recruits RNA polymerase II and other factors. This particular subunit interacts with the largest TFIID subunit, as well as multiple transcription activators. The protein is required for transcription by promoters targeted by RNA polymerase II. [provided by RefSeq, Jul 2008]
TAF8	chr6	42050513	42087461	+	ENSG00000137413.15	protein_coding	II|TAF|TAF(II)43|TAFII-43|TAFII43|TBN	6p21.1	TATA-box binding protein associated factor 8	This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
TAF9	chr5	69364743	69370013	-	ENSG00000273841.4	protein_coding	MGC:5067|STAF31/32|TAF2G|TAFII-31|TAFII-32|TAFII31|TAFII32|TAFIID32	5q13.2	TATA-box binding protein associated factor 9	Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds to the basal transcription factor GTF2B as well as to several transcriptional activators such as p53 and VP16. In human, TAF9 and AK6 (GeneID: 102157402) are two distinct genes that share 5 exons. A similar but distinct gene (TAF9L) has been found on the X chromosome and a pseudogene has been identified on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
TAFA2	chr12	 61708273	62260034	-	ENSG00000198673	protein-coding	FAM19A2|TAFA-2	12q14.1	TAFA chemokine like family member 2	This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. [provided by RefSeq, Jul 2008]
TAFA3	chr1	 112718905	112727235	+	ENSG00000184599	protein-coding	FAM19A3|TAFA-3	1p13.2	TAFA chemokine like family member 3	This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines, that act as regulators of immune and nervous cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
TAFAZZIN	chrX	 154411539	154421726	+	ENSG00000102125	protein-coding	BTHS|CMD3A|EFE|EFE2|G4.5|LVNCX|TAZ|Taz1	Xq28	tafazzin, phospholipid-lysophospholipid transacylase	-
TAGAP	chr6	159034468	159045152	-	ENSG00000164691.16	protein_coding	ARHGAP47|FKSG15|IDDM21|TAGAP1	6q25.3	T cell activation RhoGTPase activating protein	This gene encodes a member of the Rho GTPase-activator protein superfamily. The encoded protein may function as a Rho GTPase-activating protein. Alterations in this gene may be associated with several diseases, including rheumatoid arthritis, celiac disease, and multiple sclerosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]
TAGLN	chr11	117199321	117204782	+	ENSG00000149591.16	protein_coding	SM22|SM22-alpha|SMCC|TAGLN1|WS3-10	11q23.3	transgelin	This gene encodes a shape change and transformation sensitive actin-binding protein which belongs to the calponin family. It is ubiquitously expressed in vascular and visceral smooth muscle, and is an early marker of smooth muscle differentiation. The encoded protein is thought to be involved in calcium-independent smooth muscle contraction. It acts as a tumor suppressor, and the loss of its expression is an early event in cell transformation and the development of some tumors, coinciding with cellular plasticity. The encoded protein has a domain architecture consisting of an N-terminal calponin homology (CH) domain and a C-terminal calponin-like (CLIK) domain. Mice with a knockout of the orthologous gene are viable and fertile but their vascular smooth muscle cells exhibit alterations in the distribution of the actin filament and changes in cytoskeletal organization. [provided by RefSeq, Aug 2017]
TAGLN2	chr1	159918107	159925732	-	ENSG00000158710.14	protein_coding	HA1756	1q23.2	transgelin 2	The protein encoded by this gene is similar to the protein transgelin, which is one of the earliest markers of differentiated smooth muscle. The specific function of this protein has not yet been determined, although it is thought to be a tumor suppressor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2013]
TAL1	chr1	47216290	47232220	-	ENSG00000162367.11	protein_coding	SCL|TCL5|bHLHa17|tal-1	1p33	TAL bHLH transcription factor 1, erythroid differentiation factor	Broad expression in bone marrow (RPKM 7.9), fat (RPKM 4.0) and 18 other tissues
TAL2	chr9	105662457	105663112	+	ENSG00000186051.6	protein_coding	-	9q31.2	TAL bHLH transcription factor 2	-
TALDO1	chr11	747329	765024	+	ENSG00000177156.10	protein_coding	TAL|TAL-H|TALDOR|TALH	11p15.5	transaldolase 1	Transaldolase 1 is a key enzyme of the nonoxidative pentose phosphate pathway providing ribose-5-phosphate for nucleic acid synthesis and NADPH for lipid biosynthesis. This pathway can also maintain glutathione at a reduced state and thus protect sulfhydryl groups and cellular integrity from oxygen radicals. The functional gene of transaldolase 1 is located on chromosome 11 and a pseudogene is identified on chromosome 1 but there are conflicting map locations. The second and third exon of this gene were developed by insertion of a retrotransposable element. This gene is thought to be involved in multiple sclerosis. [provided by RefSeq, Jul 2008]
TAMM41	chr3	11790442	11846919	-	ENSG00000144559.10	protein_coding	C3orf31|RAM41|TAM41	3p25.2	TAM41 mitochondrial translocator assembly and maintenance homolog	Ubiquitous expression in ovary (RPKM 1.6), lymph node (RPKM 1.4) and 25 other tissues
TANC1	chr2	158968671	159232659	+	ENSG00000115183.14	protein_coding	ROLSB|TANC	2q24.2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	Ubiquitous expression in skin (RPKM 16.4), lung (RPKM 9.9) and 24 other tissues
TANC2	chr17	63009556	63427699	+	ENSG00000170921.15	protein_coding	IDDALDS|ROLSA|rols	17q23.2-q23.3	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	Broad expression in brain (RPKM 6.5), testis (RPKM 5.9) and 23 other tissues
TANGO2	chr22	20017014	20065926	+	ENSG00000183597.15	protein_coding	C22orf25|MECRCN	22q11.21	transport and golgi organization 2 homolog	This gene belongs to the transport and Golgi organization family, whose members are predicted to play roles in secretory protein loading in the endoplasmic reticulum. Depletion of this gene in Drosophila S2 cells causes fusion of the Golgi with the ER. In mouse tissue culture cells, this protein co-localizes with a mitochondrially targeted mCherry protein and displays very low levels of co-localization with Golgi and peroxisomes. Allelic variants of this gene are associated with rhabdomyolysis, metabolic crises with encephalopathy, and cardiac arrhythmia. [provided by RefSeq, Apr 2016]
TANGO6	chr16	68843604	69085180	+	ENSG00000103047.7	protein_coding	TMCO7	16q22.1	transport and golgi organization 6 homolog	Ubiquitous expression in testis (RPKM 3.5), liver (RPKM 3.4) and 25 other tissues
TANK	chr2	161136908	161236221	+	ENSG00000136560.13	protein_coding	I-TRAF|ITRAF|TRAF2	2q24.2	TRAF family member associated NFKB activator	The TRAF (tumor necrosis factor receptor-associated factor) family of proteins associate with and transduce signals from members of the tumor necrosis factor receptor superfamily. The protein encoded by this gene is found in the cytoplasm and can bind to TRAF1, TRAF2, or TRAF3, thereby inhibiting TRAF function by sequestering the TRAFs in a latent state in the cytoplasm. For example, the protein encoded by this gene can block TRAF2 binding to LMP1, the Epstein-Barr virus transforming protein, and inhibit LMP1-mediated NF-kappa-B activation. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
TAOK1	chr17	29390464	29551904	+	ENSG00000160551.11	protein_coding	DDIB|KFC-B|MAP3K16|MARKK|PSK-2|PSK2|TAO1|hKFC-B|hTAOK1	17q11.2	TAO kinase 1	Ubiquitous expression in brain (RPKM 14.1), thyroid (RPKM 11.3) and 25 other tissues
TAOK2	chr16	29973641	29992261	+	ENSG00000149930.17	protein_coding	MAP3K17|PSK|PSK1|PSK1-BETA|TAO1|TAO2	16p11.2	TAO kinase 2	This gene encodes a serine/threonine protein kinase that is involved in many different processes, including, cell signaling, microtubule organization and stability, and apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
TAOK3	chr12	118149801	118372945	-	ENSG00000135090.13	protein_coding	DPK|JIK|MAP3K18|hKFC-A	12q24.23	TAO kinase 3	The protein encoded by this gene is a serine/threonine protein kinase that activates the p38/MAPK14 stress-activated MAPK cascade but inhibits the basal activity of the MAPK8/JNK cascade. The encoded protein is a member of the GCK subfamily of STE20-like kinases. [provided by RefSeq, Oct 2016]
TAP1	chr6	32845209	32853978	-	ENSG00000168394.10	protein_coding	ABC17|ABCB2|APT1|D6S114E|PSF-1|PSF1|RING4|TAP1*0102N|TAP1N	6p21.32	transporter 1, ATP binding cassette subfamily B member	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
TAP2	chr6	32821833	32838780	-	ENSG00000204267.13	protein_coding	ABC18|ABCB3|APT2|D6S217E|PSF-2|PSF2|RING11	6p21.32	transporter 2, ATP binding cassette subfamily B member	The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This gene is located 7 kb telomeric to gene family member ABCB2. The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with ABCB2 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Alternative splicing of this gene produces products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. [provided by RefSeq, Feb 2014]
TAPBP	chr6	33299694	33314387	-	ENSG00000231925.11	protein_coding	NGS17|TAPA|TPN|TPSN	6p21.32	TAP binding protein	This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
TAPBPL	chr12	6451690	6466517	+	ENSG00000139192.11	protein_coding	TAPBP-R|TAPBPR	12p13.31	TAP binding protein like	Tapasin, or TAPBP (MIM 601962), is a member of the variable-constant Ig superfamily that links major histocompatibility complex (MHC) class I molecules to the transporter associated with antigen processing (TAP; see MIM 170260) in the endoplasmic reticulum (ER). The TAPBP gene is located near the MHC complex on chromosome 6p21.3. TAPBPL is a member of the Ig superfamily that is localized on chromosome 12p13.3, a region somewhat paralogous to the MHC.[supplied by OMIM, Mar 2008]
TAPT1-AS1	chr4	16226685	16320140	+	ENSG00000263327.6	antisense	-	4p15.32	TAPT1 antisense RNA 1 (head to head)	-
TARBP1	chr1	234391313	234479103	-	ENSG00000059588.9	protein_coding	TRM3|TRMT3|TRP-185|TRP185	1q42.2	TAR (HIV-1) RNA binding protein 1	HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. This element forms a stable stem-loop structure and can be bound by either the protein encoded by this gene or by RNA polymerase II. This protein may act to disengage RNA polymerase II from TAR during transcriptional elongation. Alternatively spliced transcripts of this gene may exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]
TARBP2	chr12	53500921	53506431	+	ENSG00000139546.10	protein_coding	LOQS|TRBP|TRBP1|TRBP2	12q13.13	TARBP2 subunit of RISC loading complex	HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene binds between the bulge and the loop of the HIV-1 TAR RNA regulatory element and activates HIV-1 gene expression in synergy with the viral Tat protein. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene also has a pseudogene. [provided by RefSeq, Jul 2008]
TARDBP	chr1	11012344	11026420	+	ENSG00000120948.16	protein_coding	ALS10|TDP-43	1p36.22	TAR DNA binding protein	HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]
TARID	chr6	133502252	133892802	-	ENSG00000227954.6	antisense	EYA4-AS1	6q23.2	TCF21 antisense RNA inducing promoter demethylation	Broad expression in placenta (RPKM 2.4), ovary (RPKM 2.4) and 16 other tissues
TARS1	chr5	 33440696	33468091	+	ENSG00000113407	protein-coding	TARS|TTD7|ThrRS	5p13.3	threonyl-tRNA synthetase 1	Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Threonyl-tRNA synthetase belongs to the class-II aminoacyl-tRNA synthetase family [provided by RefSeq, Jul 2008]
TARS2	chr1	150487364	150507609	+	ENSG00000143374.16	protein_coding	COXPD21|TARSL1|thrRS	1q21.2	threonyl-tRNA synthetase 2, mitochondrial	This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 2012]
TARS3	chr15	 101653596	101724473	-	ENSG00000185418	protein-coding	TARSL2|ThrRS-L	15q26.3	threonyl-tRNA synthetase 3	Ubiquitous expression in brain (RPKM 4.4), heart (RPKM 3.4) and 25 other tissues
TAS1R1	chr1	6555181	6579757	+	ENSG00000173662.20	protein_coding	GM148|GPR70|T1R1|TR1	1p36.31	taste 1 receptor member 1	The protein encoded by this gene is a G protein-coupled receptor and is a component of the heterodimeric amino acid taste receptor T1R1+3. The T1R1+3 receptor responds to L-amino acids but not to D-enantiomers or other compounds. Most amino acids that are perceived as sweet activate T1R1+3, and this activation is strictly dependent on an intact T1R1+3 heterodimer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
TAS1R3	chr1	1331314	1335306	+	ENSG00000169962.4	protein_coding	T1R3	1p36.33	taste 1 receptor member 3	The protein encoded by this gene is a G-protein coupled receptor involved in taste responses. The encoded protein can form a heterodimeric receptor with TAS1R1 to elicit the umami taste response, or it can bind with TAS1R2 to form a receptor for the sweet taste response. [provided by RefSeq, Nov 2015]
TAS2R10	chr12	10825317	10826358	-	ENSG00000121318.2	protein_coding	T2R10|TRB2	12p13.2	taste 2 receptor member 10	This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]
TAS2R14	chr12	10937406	11171573	-	ENSG00000212127.5	protein_coding	T2R14|TRB1	12p13.2	taste 2 receptor member 14	This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]
TAS2R15P	chr12	10964425	10965352	-	ENSG00000212125.2	processed_pseudogene	PS8|T2R15|TAS2R15	12p13.2	taste 2 receptor member 15 pseudogene	-
TAS2R19	chr12	11021619	11022620	-	ENSG00000212124.2	protein_coding	MSTP058|T2R19|T2R23|T2R48|TAS2R23|TAS2R48	12p13.2	taste 2 receptor member 19	-
TAS2R20	chr12	10996495	10997875	-	ENSG00000255837.1	protein_coding	T2R20|T2R49|T2R56|TAS2R49	12p13.2	taste 2 receptor member 20	This gene encodes a member of the taste receptor two family of class C G-protein coupled receptors. Receptors of this family have a short extracellular N-terminus, seven transmembrane helices, three extracellular loops and three intracellular loops, and an intracellular C-terminus. Members of this family are expressed in a subset of taste receptor cells, where they function in bitter taste reception, as well as in non-gustatory cells including those of the brain, reproductive organs, respiratory system, and gastrointestinal system. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2016]
TAS2R31	chr12	11030387	11031407	-	ENSG00000256436.1	protein_coding	T2R31|T2R44|T2R53|TAS2R44	12p13.2	taste 2 receptor member 31	TAS2R44 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Mar 2009]
TAS2R4	chr7	141778442	141780819	+	ENSG00000127364.3	protein_coding	T2R4	7q34	taste 2 receptor member 4	This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. These apparently intronless genes encode a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]
TAS2R40	chr7	143222037	143223079	+	ENSG00000221937.4	protein_coding	GPR60|T2R40|T2R58	7q34	taste 2 receptor member 40	This gene encodes a member of the bitter taste receptor family which belong to the G protein-coupled receptor superfamily and are predominantly expressed in taste receptor cells of the tongue and palate epithelia. This intronless taste receptor gene encodes a seven-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered together with eight other taste receptor genes on chromosome 7. A decrease in the expression of this gene is associated with hypogeusia. [provided by RefSeq, Jul 2017]
TAS2R41	chr7	143477873	143478796	+	ENSG00000221855.1	protein_coding	T2R41|T2R59	7q35	taste 2 receptor member 41	This gene encodes a member of the bitter taste receptor family which belong to the G protein-coupled receptor superfamily and are predominantly expressed in taste receptor cells of the tongue and palate epithelia. This intronless taste receptor gene encodes a seven-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered together with eight other taste receptor genes on chromosome 7. Chloramphenicol is an agonist for the encoded protein. [provided by RefSeq, Jul 2017]
TAS2R43	chr12	11091287	11092313	-	ENSG00000255374.3	protein_coding	T2R43|T2R52	12p13.2	taste 2 receptor member 43	TAS2R43 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Mar 2009]
TAS2R5	chr7	141790217	141791367	+	ENSG00000127366.5	protein_coding	T2R5	7q34	taste 2 receptor member 5	This gene encodes a bitter taste receptor; bitter taste receptors are members of the G protein-coupled receptor superfamily and are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless taste receptor genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes on chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]
TAS2R60	chr7	143443453	143444409	+	ENSG00000185899.1	protein_coding	T2R56|T2R60	7q35	taste 2 receptor member 60	This gene encodes a member of the bitter taste receptor family which belong to the G protein-coupled receptor superfamily and are predominantly expressed in taste receptor cells of the tongue and palate epithelia. This intronless taste receptor gene encodes a seven-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered together with eight other taste receptor genes on chromosome 7. [provided by RefSeq, Jul 2017]
TAS2R62P	chr7	143437034	143437973	+	ENSG00000234066.1	unitary_pseudogene	PS1|T2R62|TAS2R62	7q35	taste 2 receptor member 62 pseudogene	-
TAS2R63P	chr12	11048332	11049256	-	ENSG00000256019.1	processed_pseudogene	PS6|T2R63	12p13.2	taste 2 receptor member 63 pseudogene	-
TAS2R8	chr12	10806051	10807293	-	ENSG00000121314.2	protein_coding	T2R8|TRB5	12p13.2	taste 2 receptor member 8	This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]
TASOR	chr3	 56620132	56683265	-	ENSG00000163946	protein-coding	C3orf63|FAM208A|RAP140|TASOR1|se89-1	3p14.3	transcription activation suppressor	Ubiquitous expression in testis (RPKM 15.9), lymph node (RPKM 11.5) and 25 other tissues
TASOR2	chr10	 5684838	5763740	+	ENSG00000108021	protein-coding	C10orf18|FAM208B|bA318E3.2	10p15.1	transcription activation suppressor family member 2	Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
TAT	chr16	71565660	71577130	-	ENSG00000198650.10	protein_coding	-	16q22.2	tyrosine aminotransferase	Restricted expression toward liver (RPKM 242.2)
TATDN1	chr8	124488485	124539458	-	ENSG00000147687.18	protein_coding	CDA11	8q24.13	TatD DNase domain containing 1	Ubiquitous expression in thyroid (RPKM 16.0), ovary (RPKM 13.3) and 25 other tissues
TATDN2	chr3	10248023	10281218	+	ENSG00000157014.10	protein_coding	-	3p25.3	TatD DNase domain containing 2	-
TATDN3	chr1	212791828	212816626	+	ENSG00000203705.10	protein_coding	-	1q32.3	TatD DNase domain containing 3	-
TAX1BP1	chr7	27739331	27844564	+	ENSG00000106052.13	protein_coding	CALCOCO3|T6BP|TXBP151	7p15.2	Tax1 binding protein 1	This gene encodes a HTLV-1 tax1 binding protein. The encoded protein interacts with TNFAIP3, and inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degradation of this protein by caspase-3-like family proteins is associated with apoptosis induced by TNF. This protein may also have a role in the inhibition of inflammatory signaling pathways. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
TAX1BP3	chr17	3662896	3668682	-	ENSG00000213977.7	protein_coding	TIP-1|TIP1	17p13.2	Tax1 binding protein 3	This gene encodes a small, highly conserved protein with a single PDZ domain. PDZ (PSD-95/Discs large/ZO-1 homologous) domains promote protein-protein interactions that affect cell signaling, adhesion, protein scaffolding, and receptor and ion transporter functions. The encoded protein interacts with a large number of target proteins that play roles in signaling pathways; for example, it interacts with Rho A and glutaminase L and also acts as a negative regulator of the Wnt/beta-catenin signaling pathway. This protein was first identified as binding to the T-cell leukaemia virus (HTLV1) Tax oncoprotein. Overexpression of this gene has been implicated in altered cancer cell adhesion, migration and metastasis. The encoded protein also modulates the localization and density of inwardly rectifying potassium channel 2.3 (Kir2.3). To date, this protein has been shown to play a role in cell proliferation, development, stress response, and polarization. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]
TBC1D10A	chr22	30291990	30327046	-	ENSG00000099992.15	protein_coding	EPI64|TBC1D10|dJ130H16.1|dJ130H16.2	22q12.2	TBC1 domain family member 10A	Ubiquitous expression in esophagus (RPKM 13.6), placenta (RPKM 13.3) and 25 other tissues
TBC1D10B	chr16	30357102	30370264	-	ENSG00000169221.13	protein_coding	EPI64B|FP2461	16p11.2	TBC1 domain family member 10B	Small G proteins of the RAB family (see MIM 179508) function in intracellular vesicle trafficking by switching from the GTP-bound state to the GDP-bound state with the assistance of guanine nucleotide exchange factors (GEFs; see MIM 609700) and GTPase-activating proteins (GAPs). TBC1D10B functions as a GAP for several proteins of the Rab family (Ishibashi et al., 2009 [PubMed 19077034]).[supplied by OMIM, Nov 2010]
TBC1D10C	chr11	67403915	67410089	+	ENSG00000175463.11	protein_coding	CARABIN|EPI64C	11q13.2	TBC1 domain family member 10C	The protein encoded by this gene has an N-terminal Rab-GTPase domain and a binding site at the C-terminus for calcineurin, and is an inhibitor of both the Ras signaling pathway and calcineurin, a phosphatase regulated by calcium and calmodulin. Genes encoding similar proteins are located on chromosomes 16 and 22. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
TBC1D12	chr10	94402504	94535930	+	ENSG00000108239.8	protein_coding	-	10q23.33	TBC1 domain family member 12	-
TBC1D13	chr9	128787204	128810432	+	ENSG00000107021.15	protein_coding	-	9q34.11	TBC1 domain family member 13	-
TBC1D14	chr4	6909242	7033118	+	ENSG00000132405.18	protein_coding	-	4p16.1	TBC1 domain family member 14	-
TBC1D15	chr12	71839707	71927248	+	ENSG00000121749.15	protein_coding	RAB7-GAP	12q21.1	TBC1 domain family member 15	This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
TBC1D16	chr17	79932343	80035848	-	ENSG00000167291.15	protein_coding	-	17q25.3	TBC1 domain family member 16	-
TBC1D17	chr19	49877425	49888749	+	ENSG00000104946.12	protein_coding	-	19q13.33	TBC1 domain family member 17	-
TBC1D19	chr4	26576437	26755351	+	ENSG00000109680.10	protein_coding	-	4p15.2	TBC1 domain family member 19	-
TBC1D2	chr9	98198999	98255721	-	ENSG00000095383.19	protein_coding	PARIS-1|PARIS1|TBC1D2A	9q22.33	TBC1 domain family member 2	Broad expression in lung (RPKM 7.7), urinary bladder (RPKM 3.8) and 23 other tissues
TBC1D21	chr15	73873608	73889214	+	ENSG00000167139.8	protein_coding	MgcRabGAP	15q24.1	TBC1 domain family member 21	Restricted expression toward testis (RPKM 8.2)
TBC1D22A	chr22	46762617	47175699	+	ENSG00000054611.13	protein_coding	C22orf4|HSC79E021	22q13.31	TBC1 domain family member 22A	Enables 14-3-3 protein binding activity and protein homodimerization activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. [provided by Alliance of Genome Resources, Apr 2022]
TBC1D22B	chr6	37257772	37332970	+	ENSG00000065491.8	protein_coding	C6orf197	6p21.2	TBC1 domain family member 22B	Ubiquitous expression in testis (RPKM 6.9), bone marrow (RPKM 6.2) and 25 other tissues
TBC1D23	chr3	100261000	100325251	+	ENSG00000036054.12	protein_coding	NS4ATP1|PCH11	3q12.1-q12.2	TBC1 domain family member 23	Ubiquitous expression in adrenal (RPKM 11.3), placenta (RPKM 11.0) and 25 other tissues
TBC1D24	chr16	2475051	2509560	+	ENSG00000162065.12	protein_coding	DEE16|DFNA65|DFNB86|DOORS|EIEE16|EPRPDC|FIME|TLDC6	16p13.3	TBC1 domain family member 24	This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
TBC1D26	chr17	15732247	15749192	+	ENSG00000214946.14	protein_coding	-	17p12	TBC1 domain family member 26	Restricted expression toward testis (RPKM 8.9)
TBC1D27P	chr17	 16922776	16933176	-	-	pseudogene	TBC1D27	17p11.2	TBC1 domain family member 27, pseudogene	-
TBC1D29P	chr17	 30559566	30563493	+	ENSG00000266733	pseudogene	TBC1D29	17q11.2	TBC1 domain family member 29, pseudogene	-
TBC1D2B	chr15	77984036	78077724	-	ENSG00000167202.11	protein_coding	NEDSGO	15q24.3-q25.1	TBC1 domain family member 2B	Ubiquitous expression in ovary (RPKM 23.9), gall bladder (RPKM 19.7) and 25 other tissues
TBC1D3	chr17	38181659	38192541	-	ENSG00000274611.3	protein_coding	PRC17|TBC1D3A|TBC1D3C|TBC1D3D|TBC1D3F|TBC1D3L	17q12	TBC1 domain family member 3	Note: After build 36.3 (2008), NCBI noted that the annotation of TBC1D3 and TBC1D3F were incorrect. At that time geneID:729873 was renamed to TBC1D3 and geneID:84218 was renamed to TBC1D3F. [22 Apr 2009]
TBC1D30	chr12	64781193	64881032	+	ENSG00000111490.12	protein_coding	-	12q14.3	TBC1 domain family member 30	-
TBC1D32	chr6	121079494	121334745	-	ENSG00000146350.13	protein_coding	BROMI|C6orf170|C6orf171	6q22.31	TBC1 domain family member 32	This gene encodes a TBC-domain containing protein. Studies of a similar protein in mouse and zebrafish suggest that the encoded protein is involved in sonic hedgehog signaling, and that it interacts with and stabilizes cell cycle-related kinase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
TBC1D3B	chr17	36165681	36176636	-	ENSG00000274808.5	protein_coding	PRC17|TBC1D3I|TBC1D3L	17q12	TBC1 domain family member 3B	This gene encodes a protein that is similar to TBC1 domain family, member 3. This protein contains a TBC (Tre-2, Bub2p, and Cdc16p) domain, which is found in proteins involved in RAB GTPase signaling and vesicle trafficking. There are multiple copies of this gene located within a cluster of chemokine genes on chromosome 17q. [provided by RefSeq, Apr 2009]
TBC1D3C	chr17	38057693	38068592	-	ENSG00000278299.5	protein_coding	PRC17|TBC1D3|TBC1D3A|TBC1D3D	17q12	TBC1 domain family member 3C	This gene represents one of a cluster of related genes found on chromosome 17. The proteins encoded by this gene family contain a TBC (Tre-2, Bub2p, and Cdc16p) domain and may be involved in GTPase signaling and vesicle trafficking. [provided by RefSeq, Apr 2014]
TBC1D3F	chr17	36428618	36439566	-	ENSG00000275954.5	protein_coding	TBC1D3|TBC1D3G	17q12	TBC1 domain family member 3F	Annotation category: suggests misassembly
TBC1D3G	chr17	36323884	36334759	+	ENSG00000260287.4	protein_coding	TBC1D3C|TBC1D3D	17q12	TBC1 domain family member 3G	Broad expression in testis (RPKM 17.3), skin (RPKM 10.0) and 23 other tissues
TBC1D3H	chr17	36377531	36388423	-	ENSG00000274226.5	protein_coding	-	17q12	TBC1 domain family member 3H	Broad expression in testis (RPKM 20.7), skin (RPKM 11.7) and 24 other tissues
TBC1D4	chr13	75284665	75482114	-	ENSG00000136111.12	protein_coding	AS160|NIDDM5	13q22.2	TBC1 domain family member 4	This gene is a member of the Tre-2/BUB2/CDC16 domain family. The protein encoded by this gene is a Rab-GTPase-activating protein, and contains two phopshotyrosine-binding domains (PTB1 and PTB2), a calmodulin-binding domain (CBD), a Rab-GTPase domain, and multiple AKT phosphomotifs. This protein is thought to play an important role in glucose homeostasis by regulating the insulin-dependent trafficking of the glucose transporter 4 (GLUT4), important for removing glucose from the bloodstream into skeletal muscle and fat tissues. Reduced expression of this gene results in an increase in GLUT4 levels at the plasma membrane, suggesting that this protein is important in intracellular retention of GLUT4 under basal conditions. When exposed to insulin, this protein is phosphorylated, dissociates from GLUT4 vesicles, resulting in increased GLUT4 at the cell surface, and enhanced glucose transport. Phosphorylation of this protein by AKT is required for proper translocation of GLUT4 to the cell surface. Individuals homozygous for a mutation in this gene are at higher risk for type 2 diabetes and have higher levels of circulating glucose and insulin levels after glucose ingestion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
TBC1D5	chr3	17157162	18444817	-	ENSG00000131374.14	protein_coding	-	3p24.3	TBC1 domain family member 5	-
TBC1D7	chr6	13266542	13328583	-	ENSG00000145979.17	protein_coding	MGCPH|PIG51|TBC7	6p24.1	TBC1 domain family member 7	This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016]
TBC1D8	chr2	101007617	101252866	-	ENSG00000204634.12	protein_coding	AD3|GRAMD8|HBLP1|TBC1D8A|VRP	2q11.2	TBC1 domain family member 8	Ubiquitous expression in testis (RPKM 11.3), heart (RPKM 10.6) and 25 other tissues
TBC1D8-AS1	chr2	101151660	101155412	+	ENSG00000272902.2	lincRNA	-	2q11.2	TBC1D8 antisense RNA 1	-
TBC1D9	chr4	140620765	140756120	-	ENSG00000109436.7	protein_coding	GRAMD9|MDR1	4q31.21	TBC1 domain family member 9	Ubiquitous expression in spleen (RPKM 19.8), brain (RPKM 12.2) and 23 other tissues
TBC1D9B	chr5	179862066	179907859	-	ENSG00000197226.12	protein_coding	GRAMD9B	5q35.3	TBC1 domain family member 9B	Ubiquitous expression in fat (RPKM 32.0), thyroid (RPKM 25.0) and 25 other tissues
TBCA	chr5	77691166	77868780	-	ENSG00000171530.13	protein_coding	-	5q14.1	tubulin folding cofactor A	Ubiquitous expression in adrenal (RPKM 23.9), kidney (RPKM 17.1) and 25 other tissues
TBCB	chr19	36114289	36125947	+	ENSG00000105254.11	protein_coding	CG22|CKAP1|CKAPI	19q13.12	tubulin folding cofactor B	Ubiquitous expression in brain (RPKM 27.7), testis (RPKM 13.9) and 25 other tissues
TBCC	chr6	42744481	42746096	-	ENSG00000124659.6	protein_coding	CFC	6p21.1	tubulin folding cofactor C	Cofactor C is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]
TBCD	chr17	82752064	82945922	+	ENSG00000141556.20	protein_coding	PEBAT|SSD-1|tfcD	17q25.3	tubulin folding cofactor D	Cofactor D is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]
TBCE	chr1	235367360	235448968	+	ENSG00000116957.12	protein_coding	HRD|KCS|KCS1|PEAMO|pac2	1q42.3	tubulin folding cofactor E	Cofactor E is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
TBCEL	chr11	121024072	121090775	+	ENSG00000154114.12	protein_coding	El|LRRC35	11q23.3	tubulin folding cofactor E like	Ubiquitous expression in testis (RPKM 8.9), thyroid (RPKM 6.7) and 25 other tissues
TBCK	chr4	106041599	106321495	-	ENSG00000145348.16	protein_coding	HSPC302|IHPRF3|TBCKL	4q24	TBC1 domain containing kinase	This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
TBK1	chr12	64451880	64502108	+	ENSG00000183735.9	protein_coding	FTDALS4|IIAE8|NAK|T2K	12q14.2	TANK binding kinase 1	The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. The protein is also an important kinase for antiviral innate immunity response. [provided by RefSeq, Sep 2021]
TBKBP1	chr17	47694081	47712050	+	ENSG00000198933.9	protein_coding	ProSAPiP2|SINTBAD	17q21.32	TBK1 binding protein 1	TBKBP1 is an adaptor protein that binds to TBK1 (MIM 604834) and is part of the interaction network in the TNF (MIM 191160)/NFKB (see MIM 164011) pathway (Bouwmeester et al., 2004 [PubMed 14743216]).[supplied by OMIM, Mar 2008]
TBL1XR1-AS1	chr3	177037405	177047923	+	ENSG00000231310.3	antisense	-	3q26.32	TBL1XR1 antisense RNA 1	-
TBL2	chr7	73568932	73578791	-	ENSG00000106638.15	protein_coding	WBSCR13|WS-betaTRP	7q11.23	transducin beta like 2	This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]
TBL3	chr16	1972037	1982933	+	ENSG00000183751.14	protein_coding	SAZD|UTP13	16p13.3	transducin beta like 3	The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene has multiple polyadenylation sites. It might have multiple alternatively spliced transcript variants but the variants have not been fully described yet. [provided by RefSeq, Jul 2008]
TBP	chr6	170554302	170572870	+	ENSG00000112592.13	protein_coding	GTF2D|GTF2D1|HDL4|SCA17|TFIID	6q27	TATA-box binding protein	Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes TBP, the TATA-binding protein. A distinctive feature of TBP is a long string of glutamines in the N-terminus. This region of the protein modulates the DNA binding activity of the C terminus, and modulation of DNA binding affects the rate of transcription complex formation and initiation of transcription. The number of CAG repeats encoding the polyglutamine tract is usually 25-42, and expansion of the number of repeats to 45-66 increases the length of the polyglutamine string and is associated with spinocerebellar ataxia 17, a neurodegenerative disorder classified as a polyglutamine disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2016]
TBPL1	chr6	133952170	133990432	+	ENSG00000028839.9	protein_coding	MGC:8389|MGC:9620|STUD|TLF|TLP|TRF2	6q23.2	TATA-box binding protein like 1	This gene encodes a member of the TATA box-binding protein family. TATA box-binding proteins play a critical role in transcription by RNA polymerase II as components of the transcription factor IID (TFIID) complex. The encoded protein does not bind to the TATA box and initiates transcription from TATA-less promoters. This gene plays a critical role in spermatogenesis, and single nucleotide polymorphisms in this gene may be associated with male infertility. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3. [provided by RefSeq, Nov 2011]
TBPL2	chr14	55413541	55456726	-	ENSG00000182521.5	protein_coding	TBP2|TRF3	14q22.3	TATA-box binding protein like 2	Predicted to enable RNA polymerase II general transcription initiation factor activity. Predicted to be involved in DNA-templated transcription, initiation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
TBRG4	chr7	45100100	45112047	-	ENSG00000136270.13	protein_coding	CPR2|FASTKD4	7p13	transforming growth factor beta regulator 4	Ubiquitous expression in testis (RPKM 18.2), duodenum (RPKM 14.9) and 25 other tissues
TBX1	chr22	19756703	19783593	+	ENSG00000184058.12	protein_coding	CAFS|CATCH22|CTHM|DGCR|DGS|DORV|TBX1C|TGA|VCF|VCFS	22q11.21	T-box transcription factor 1	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
TBX10	chr11	67631303	67639560	-	ENSG00000167800.9	protein_coding	TBX13|TBX7	11q13.2	T-box transcription factor 10	This gene encodes a member of the T-box family of transcription factors. These transcription factors share a DNA-binding domain called the T-box, and play a role in several developmental processes including early embryonic cell fate and organogenesis. The encoded protein is a member of the T-box 1 subfamily. Mutations in this gene are thought to be a cause of isolated cleft lip with or without cleft palate. [provided by RefSeq, Nov 2010]
TBX15	chr1	118883046	118989556	-	ENSG00000092607.13	protein_coding	TBX14	1p12	T-box transcription factor 15	This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009]
TBX18	chr6	84687351	84764519	-	ENSG00000112837.16	protein_coding	CAKUT2	6q14.3	T-box transcription factor 18	This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012]
TBX18-AS1	chr6	84687712	84709578	+	ENSG00000228290.6	antisense	-	6q14.3	TBX18 antisense RNA 1	-
TBX19	chr1	168281040	168314426	+	ENSG00000143178.12	protein_coding	TBS19|TPIT|dJ747L4.1	1q24.2	T-box transcription factor 19	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq, Jul 2008]
TBX2	chr17	61399896	61409466	+	ENSG00000121068.13	protein_coding	VETD	17q23.2	T-box transcription factor 2	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product is the human homolog of mouse Tbx2, and shares strong sequence similarity with Drosophila omb protein. Expression studies indicate that this gene may have a potential role in tumorigenesis as an immortalizing agent. Transcript heterogeneity due to alternative polyadenylation has been noted for this gene. [provided by RefSeq, Jul 2008]
TBX2-AS1	chr17	61393456	61411555	-	ENSG00000267280.5	antisense	-	17q23.2	TBX2 antisense RNA 1	-
TBX20	chr7	35202430	35254147	-	ENSG00000164532.10	protein_coding	ASD4	7p14.2	T-box transcription factor 20	This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
TBX21	chr17	47733244	47746119	+	ENSG00000073861.2	protein_coding	T-PET|T-bet|TBET|TBLYM	17q21.32	T-box transcription factor 21	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mouse Tbx21/Tbet gene. Studies in mouse show that Tbx21 protein is a Th1 cell-specific transcription factor that controls the expression of the hallmark Th1 cytokine, interferon-gamma (IFNG). Expression of the human ortholog also correlates with IFNG expression in Th1 and natural killer cells, suggesting a role for this gene in initiating Th1 lineage development from naive Th precursor cells. [provided by RefSeq, Jul 2008]
TBX3	chr12	114670254	114684164	-	ENSG00000135111.15	protein_coding	TBX3-ISO|UMS|XHL	12q24.21	T-box transcription factor 3	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]
TBX4	chr17	61452404	61485110	+	ENSG00000121075.9	protein_coding	ICPPS|PAPPAS|SPS	17q23.2	T-box transcription factor 4	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008]
TBX5	chr12	114353931	114408442	-	ENSG00000089225.19	protein_coding	HOS	12q24.21	T-box transcription factor 5	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
TBX6	chr16	30085793	30091887	-	ENSG00000149922.10	protein_coding	SCDO5	16p11.2	T-box transcription factor 6	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008]
TBXA2R	chr19	3594506	3606840	-	ENSG00000006638.11	protein_coding	BDPLT13|TXA2-R	19p13.3	thromboxane A2 receptor	This gene encodes a member of the G protein-coupled receptor family. The protein interacts with thromboxane A2 to induce platelet aggregation and regulate hemostasis. A mutation in this gene results in a bleeding disorder. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
TBXAS1	chr7	139777051	140020325	+	ENSG00000059377.16	protein_coding	BDPLT14|CYP5|CYP5A1|GHOSAL|THAS|TS|TXAS|TXS	7q34	thromboxane A synthase 1	This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
TBXT	chr6	 166157656	166168655	-	ENSG00000164458	protein-coding	SAVA|T|TFT	6q27	T-box transcription factor T	The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. Variation in this gene was associated with susceptibility to neural tube defects and chordoma. A mutation in this gene was found in a family with sacral agenesis with vertebral anomalies. [provided by RefSeq, Sep 2018]
TC2N	chr14	91779751	91867536	-	ENSG00000165929.12	protein_coding	C14orf47|C2CD1|MTAC2D1|TAC2N|Tac2-N	14q32.12	tandem C2 domains, nuclear	Ubiquitous expression in gall bladder (RPKM 19.6), stomach (RPKM 15.2) and 24 other tissues
TCAF1	chr7	143851375	143902198	-	ENSG00000198420.9	protein_coding	FAM115A|GATD9A	7q35	TRPM8 channel associated factor 1	Ubiquitous expression in placenta (RPKM 36.2), brain (RPKM 25.4) and 24 other tissues
TCAF2	chr7	143620950	143730409	+	ENSG00000170379.19	protein_coding	FAM115C|FAM139A|GATD9|GATD9B	7q35	TRPM8 channel associated factor 2	Annotation category: suggests misassembly
TCAF2P1	chr7	143800732	143817973	+	ENSG00000159860.6	unprocessed_pseudogene	FAM115D|FAM139B|TCAF2BP	7q35	TRPM8 channel associated factor 2 pseudogene 1	-
TCAIM	chr3	44338119	44409451	+	ENSG00000179152.19	protein_coding	C3orf23|TOAG-1|TOAG1	3p21.31	T cell activation inhibitor, mitochondrial	Ubiquitous expression in kidney (RPKM 7.5), liver (RPKM 6.6) and 25 other tissues
TCAM1P	chr17	63849292	63864379	+	ENSG00000240280.6	transcribed_unitary_pseudogene	TCAM1	17q23.3	testicular cell adhesion molecule 1, pseudogene	This pseudogene is located downstream from the growth hormone locus on chromosome 17. This locus evolved by a series of partial duplications that have disrupted the human gene. A homologous gene in mouse encodes a testis-specific cell adhesion protein that may play a role in germ cell-Sertoli cell interactions. [provided by RefSeq, Apr 2012]
TCAP	chr17	39664187	39666555	+	ENSG00000173991.5	protein_coding	CMD1N|CMH25|LGMD2G|LGMDR7|T-cap|TELE|telethonin	17q12	titin-cap	Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008]
TCEA1P2	chr3	37275693	37276598	+	ENSG00000230409.3	processed_pseudogene	-	3p22.2	transcription elongation factor A1 pseudogene 2	-
TCEA2	chr20	64049836	64072347	+	ENSG00000171703.16	protein_coding	TFIIS	20q13.33	transcription elongation factor A2	The protein encoded by this gene is found in the nucleus, where it functions as an SII class transcription elongation factor. Elongation factors in this class are responsible for releasing RNA polymerase II ternary complexes from transcriptional arrest at template-encoded arresting sites. The encoded protein has been shown to interact with general transcription factor IIB, a basal transcription factor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
TCEA3	chr1	23381061	23424740	-	ENSG00000204219.9	protein_coding	TFIIS|TFIIS.H	1p36.12	transcription elongation factor A3	Ubiquitous expression in colon (RPKM 19.3), ovary (RPKM 18.5) and 23 other tissues
TCEAL3	chrX	103607451	103629690	+	ENSG00000196507.10	protein_coding	WEX8	Xq22.2	transcription elongation factor A like 3	This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008]
TCEAL8	chrX	103252995	103255203	-	ENSG00000180964.16	protein_coding	WEX3	Xq22.1	transcription elongation factor A like 8	This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. Alternative splicing results in multiple transcript variants encoding a single isoform. [provided by RefSeq, Jul 2008]
TCEANC2	chr1	54053587	54112519	+	ENSG00000116205.12	protein_coding	C1orf83	1p32.3	transcription elongation factor A N-terminal and central domain containing 2	Ubiquitous expression in testis (RPKM 1.1), lymph node (RPKM 0.8) and 25 other tissues
TCERG1	chr5	146447311	146511961	+	ENSG00000113649.11	protein_coding	CA150|TAF2S|Urn1	5q32	transcription elongation regulator 1	This gene encodes a nuclear protein that regulates transcriptional elongation and pre-mRNA splicing. The encoded protein interacts with the hyperphosphorylated C-terminal domain of RNA polymerase II via multiple FF domains, and with the pre-mRNA splicing factor SF1 via a WW domain. Alternative splicing results in multiple transcripts variants encoding different isoforms. [provided by RefSeq, Jul 2008]
TCF12	chr15	56918623	57299281	+	ENSG00000140262.17	protein_coding	CRS3|HEB|HTF4|HsT17266|TCF-12|bHLHb20|p64	15q21.3	transcription factor 12	The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
TCF15	chr20	603797	610398	-	ENSG00000125878.6	protein_coding	EC2|PARAXIS|bHLHa40	20p13	transcription factor 15	The protein encoded by this gene is found in the nucleus and may be involved in the early transcriptional regulation of patterning of the mesoderm. The encoded basic helix-loop-helix protein requires dimerization with another basic helix-loop-helix protein for efficient DNA binding. [provided by RefSeq, Jul 2008]
TCF19	chr6	31158542	31167159	+	ENSG00000137310.11	protein_coding	SC1|TCF-19	6p21.33	transcription factor 19	This gene encodes a protein that contains a PHD-type zinc finger domain and likely functions as a transcription factor. The encoded protein plays a role proliferation and apoptosis of pancreatic beta cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
TCF20	chr22	42160013	42343616	-	ENSG00000100207.18	protein_coding	AR1|DDVIBA|SPBP|TCF-20	22q13.2|22q13.3	transcription factor 20	This gene encodes a transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
TCF21	chr6	133889138	133895553	+	ENSG00000118526.6	protein_coding	POD1|bHLHa23	6q23.2	transcription factor 21	TCF21 encodes a transcription factor of the basic helix-loop-helix family. The TCF21 product is mesoderm specific, and expressed in embryonic epicardium, mesenchyme-derived tissues of lung, gut, gonad, and both mesenchymal and glomerular epithelial cells in the kidney. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
TCF23	chr2	27149004	27156974	+	ENSG00000163792.6	protein_coding	OUT|TCF-23|bHLHa24	2p23.3	transcription factor 23	The gene encodes a member of the basic helix-loop-helix transcription factor family. Studies of the orthologous gene in mouse have shown the encoded protein does not bind DNA but may negatively regulate other basic helix-loop-helix factors via the formation of a functionally inactive heterodimeric complex. [provided by RefSeq, May 2010]
TCF25	chr16	89873570	89913627	+	ENSG00000141002.19	protein_coding	FKSG26|Hulp1|NULP1|PRO2620|hKIAA1049	16q24.3	transcription factor 25	TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008]
TCF3	chr19	1609290	1652605	-	ENSG00000071564.14	protein_coding	AGM8|E2A|E47|ITF1|TCF-3|VDIR|bHLHb21|p75	19p13.3	transcription factor 3	This gene encodes a member of the E protein (class I) family of helix-loop-helix transcription factors. E proteins activate transcription by binding to regulatory E-box sequences on target genes as heterodimers or homodimers, and are inhibited by heterodimerization with inhibitor of DNA-binding (class IV) helix-loop-helix proteins. E proteins play a critical role in lymphopoiesis, and the encoded protein is required for B and T lymphocyte development. Deletion of this gene or diminished activity of the encoded protein may play a role in lymphoid malignancies. This gene is also involved in several chromosomal translocations that are associated with lymphoid malignancies including pre-B-cell acute lymphoblastic leukemia (t(1;19), with PBX1), childhood leukemia (t(19;19), with TFPT) and acute leukemia (t(12;19), with ZNF384). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 9. [provided by RefSeq, Sep 2011]
TCF3P1	chr9	5110913	5112849	+	ENSG00000236567.2	processed_pseudogene	-	9p24.1	transcription factor 3 pseudogene 1	-
TCF4	chr18	55222331	55664787	-	ENSG00000196628.15	protein_coding	CDG2T|E2-2|FECD3|ITF-2|ITF2|PTHS|SEF-2|SEF2|SEF2-1|SEF2-1A|SEF2-1B|SEF2-1D|TCF-4|bHLHb19	18q21.2	transcription factor 4	This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box (E-box) binding site (CANNTG) - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]
TCF7	chr5	134114711	134151865	+	ENSG00000081059.19	protein_coding	TCF-1	5q31.1	transcription factor 7	This gene encodes a member of the T-cell factor/lymphoid enhancer-binding factor family of high mobility group (HMG) box transcriptional activators. This gene is expressed predominantly in T-cells and plays a critical role in natural killer cell and innate lymphoid cell development. The encoded protein forms a complex with beta-catenin and activates transcription through a Wnt/beta-catenin signaling pathway. Mice with a knockout of this gene are viable and fertile, but display a block in T-lymphocyte differentiation. Alternative splicing results in multiple transcript variants. Naturally-occurring isoforms lacking the N-terminal beta-catenin interaction domain may act as dominant negative regulators of Wnt signaling. [provided by RefSeq, Oct 2016]
TCF7L1	chr2	85133410	85310388	+	ENSG00000152284.4	protein_coding	TCF-3|TCF3	2p11.2	transcription factor 7 like 1	This gene encodes a member of the T cell factor/lymphoid enhancer factor family of transcription factors. These transcription factors are activated by beta catenin, mediate the Wnt signaling pathway and are antagonized by the transforming growth factor beta signaling pathway. The encoded protein contains a high mobility group-box DNA binding domain and participates in the regulation of cell cycle genes and cellular senescence. [provided by RefSeq, Nov 2010]
TCF7L2	chr10	112950250	113167678	+	ENSG00000148737.16	protein_coding	TCF-4|TCF4	10q25.2-q25.3	transcription factor 7 like 2	This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
TCFL5	chr20	62841115	62861763	-	ENSG00000101190.12	protein_coding	CHA|E2BP-1|Figlb|SOSF1|bHLHe82	20q13.33	transcription factor like 5	Broad expression in testis (RPKM 22.8), thyroid (RPKM 7.1) and 19 other tissues
TCHH	chr1	152106317	152115454	-	ENSG00000159450.12	protein_coding	THH|THL|TRHY|UHS3	1q21.3	trichohyalin	The protein encoded by this gene forms crosslinked complexes with itself and keratin intermediate filaments to provide mechanical strength to the hair follicle inner root sheath. The encoded protein also is important for structural integrity of the filiform papillae of the tongue. Defects in this gene are a cause of uncombable hair syndrome. [provided by RefSeq, Feb 2017]
TCHP	chr12	109900264	109983841	+	ENSG00000139437.17	protein_coding	TpMs	12q24.11	trichoplein keratin filament binding	Ubiquitous expression in skin (RPKM 11.4), testis (RPKM 6.8) and 25 other tissues
TCIRG1	chr11	68039016	68050895	+	ENSG00000110719.9	protein_coding	ATP6N1C|ATP6V0A3|Atp6i|OC-116kDa|OC116|OPTB1|Stv1|TIRC7|Vph1|a3	11q13.2	T cell immune regulator 1, ATPase H+ transporting V0 subunit a3	This gene encodes a subunit of a large protein complex known as a vacuolar H+-ATPase (V-ATPase). The protein complex acts as a pump to move protons across the membrane. This movement of protons helps regulate the pH of cells and their surrounding environment. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. V-ATPase is comprised of a cytosolic V1 domain and a transmembrane V0 domain. Alternative splicing results in multiple transcript variants. Mutations in this gene are associated with infantile malignant osteopetrosis. [provided by RefSeq, May 2017]
TCL1A	chr14	95709967	95714196	-	ENSG00000100721.10	protein_coding	TCL1	14q32.13	TCL1 family AKT coactivator A	Overexpression of the TCL1 gene in humans has been implicated in the development of mature T cell leukemia, in which chromosomal rearrangements bring the TCL1 gene in close proximity to the T-cell antigen receptor (TCR)-alpha (MIM 186880) or TCR-beta (MIM 186930) regulatory elements (summarized by Virgilio et al., 1998 [PubMed 9520462]). In normal T cells TCL1 is expressed in CD4-/CD8- cells, but not in cells at later stages of differentiation. TCL1 functions as a coactivator of the cell survival kinase AKT (MIM 164730) (Laine et al., 2000 [PubMed 10983986]).[supplied by OMIM, Jul 2010]
TCL1B	chr14	95686417	95692643	+	ENSG00000213231.12	protein_coding	SYN-1|TML1	14q32.13	TCL1 family AKT coactivator B	Enables protein kinase binding activity and protein serine/threonine kinase activator activity. Involved in positive regulation of peptidyl-serine phosphorylation and positive regulation of protein serine/threonine kinase activity. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
TCN2	chr22	30606838	30627278	+	ENSG00000185339.8	protein_coding	D22S676|D22S750|II|TC|TC II|TC-2|TC2|TCII	22q12.2	transcobalamin 2	This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
TCP1	chr6	159778498	159789749	-	ENSG00000120438.11	protein_coding	CCT-alpha|CCT1|CCTa|D6S230E|TCP-1-alpha	6q25.3	t-complex 1	The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized. In addition, three pseudogenes that appear to be derived from this gene have been found. [provided by RefSeq, Jun 2010]
TCP10L2	chr6	167146414	167196913	+	ENSG00000166984.11	protein_coding	-	6q27	t-complex 10 like 2, pseudogene	-
TCP11	chr6	35118071	35148610	-	ENSG00000124678.17	protein_coding	D6S230E|FPPR	6p21.31	t-complex 11	Restricted expression toward testis (RPKM 154.9)
TCP11L1	chr11	33039417	33105943	+	ENSG00000176148.15	protein_coding	dJ85M6.3	11p13	t-complex 11 like 1	Ubiquitous expression in brain (RPKM 7.3), small intestine (RPKM 3.3) and 25 other tissues
TCP11L2	chr12	106301929	106347015	+	ENSG00000166046.10	protein_coding	-	12q23.3	t-complex 11 like 2	-
TCTA	chr3	49412206	49416475	+	ENSG00000145022.4	protein_coding	-	3p21.31	T cell leukemia translocation altered	-
TCTE1	chr6	44278743	44297688	-	ENSG00000146221.9	protein_coding	D6S46|DRC5|FAP155	6p21.1	t-complex-associated-testis-expressed 1	Restricted expression toward testis (RPKM 12.5)
TCTN1	chr12	110614027	110649430	+	ENSG00000204852.15	protein_coding	JBTS13|TECT1	12q24.11	tectonic family member 1	This gene encodes a member of a family of secreted and transmembrane proteins. The orthologous gene in mouse functions downstream of smoothened and rab23 to modulate hedgehog signal transduction. This protein is a component of the tectonic-like complex, which forms a barrier between the ciliary axoneme and the basal body. A mutation in this gene was found in a family with Joubert syndrome-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
TCTN2	chr12	123671113	123708403	+	ENSG00000168778.11	protein_coding	C12orf38|JBTS24|MKS8|TECT2	12q24.31	tectonic family member 2	This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
TCTN3	chr10	95663396	95694143	-	ENSG00000119977.20	protein_coding	C10orf61|JBTS18|OFD4|TECT3	10q24.1	tectonic family member 3	This gene encodes a member of the tectonic gene family which functions in Hedgehog signal transduction and development of the neural tube. Mutations in this gene have been associated with Orofaciodigital Syndrome IV and Joubert Syndrom 18. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2012]
TDG	chr12	103965804	103988874	+	ENSG00000139372.14	protein_coding	hTDG	12q23.3	thymine DNA glycosylase	The protein encoded by this gene belongs to the TDG/mug DNA glycosylase family. Thymine-DNA glycosylase (TDG) removes thymine moieties from G/T mismatches by hydrolyzing the carbon-nitrogen bond between the sugar-phosphate backbone of DNA and the mispaired thymine. With lower activity, this enzyme also removes thymine from C/T and T/T mispairings. TDG can also remove uracil and 5-bromouracil from mispairings with guanine. This enzyme plays a central role in cellular defense against genetic mutation caused by the spontaneous deamination of 5-methylcytosine and cytosine. This gene may have a pseudogene in the p arm of chromosome 12. [provided by RefSeq, Jul 2008]
TDGF1	chr3	46574534	46582463	+	ENSG00000241186.9	protein_coding	CR|CR-1|CRGF|CRIPTO	3p21.31	teratocarcinoma-derived growth factor 1	This gene encodes an epidermal growth factor-related protein that contains a cripto, FRL-1, and cryptic domain. The encoded protein is an extracellular, membrane-bound signaling protein that plays an essential role in embryonic development and tumor growth. Mutations in this gene are associated with forebrain defects. Pseudogenes of this gene are found on chromosomes 2, 3, 6, 8, 19 and X. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
TDH	chr8	11339637	11368452	+	ENSG00000154316.16	transcribed_unitary_pseudogene	SDR14E1P	8p23.1	L-threonine dehydrogenase (pseudogene)	This gene appears to be an evolving pseudogene of L-threonine 3-dehydrogenase (TDH). In both prokaryotes and eukaryotes, TDH catalyzes the first of two steps in one of two L-threonine degradation pathways. However, in human, the single gene with sequence similarity to TDH is not capable of encoding a functional TDH protein; the predicted protein lacks most of the C-terminus and parts of the NAD+ binding motif when compared to other species TDH proteins. This suggests that the human gene is therefore a pseudogene. Transcripts of this gene are found in all tissues and alternatively spliced transcripts have been described. It is not known if these transcripts are translated, or if the possible protein product provides any functional role. [provided by RefSeq, Jul 2008]
TDP1	chr14	89954939	90044768	+	ENSG00000042088.13	protein_coding	-	14q32.11	tyrosyl-DNA phosphodiesterase 1	Broad expression in testis (RPKM 7.3), lymph node (RPKM 4.5) and 24 other tissues
TDP2	chr6	24649977	24667033	-	ENSG00000111802.13	protein_coding	AD022|EAP2|EAPII|TTRAP|dJ30M3.3|hTDP2	6p22.3	tyrosyl-DNA phosphodiesterase 2	This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. [provided by RefSeq, Jul 2008]
TDRD1	chr10	114179270	114232304	+	ENSG00000095627.9	protein_coding	CT41.1	10q25.3	tudor domain containing 1	This gene encodes a protein containing a tudor domain that is thought to function in the suppression of transposable elements during spermatogenesis. The related protein in mouse forms a complex with piRNAs and Piwi proteins to promote methylation and silencing of target sequences. This gene was observed to be upregulated by ETS transcription factor ERG in prostate tumors. [provided by RefSeq, Sep 2018]
TDRD10	chr1	154502219	154548147	+	ENSG00000163239.12	protein_coding	-	1q21.3	tudor domain containing 10	-
TDRD12	chr19	32719753	32829580	+	ENSG00000173809.17	protein_coding	ECAT8	19q13.11	tudor domain containing 12	Biased expression in testis (RPKM 4.5), ovary (RPKM 0.8) and 3 other tissues
TDRD15	chr2	21123917	21143272	+	ENSG00000218819.4	protein_coding	-	2p24.1	tudor domain containing 15	-
TDRD3	chr13	60396457	60573878	+	ENSG00000083544.13	protein_coding	-	13q21.2	tudor domain containing 3	-
TDRD6	chr6	46687875	46704319	+	ENSG00000180113.15	protein_coding	CT41.2|NY-CO-45|SPATA36|TDR2|bA446F17.4	6p12.3	tudor domain containing 6	This gene encodes a tudor domain-containing protein and component of the chromatoid body, a type of ribonucleoprotein granule present in male germ cells. Studies in rodents have demonstrated a role for the encoded protein in spermiogenesis and the nonsense mediated decay (NMD) pathway. This protein is a major autoantigen in human patients with autoimmune polyendocrine syndrome type 1 (APS1). [provided by RefSeq, Oct 2016]
TDRD7	chr9	97411950	97496125	+	ENSG00000196116.7	protein_coding	CATC4|PCTAIRE2BP|TRAP	9q22.33	tudor domain containing 7	The protein encoded by this gene belongs to the Tudor family of proteins. This protein contains conserved Tudor domains and LOTUS domains. It is a component of RNA granules, which function in RNA processing. Mutations in this gene have been associated with cataract formation in mouse and human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
TDRD9	chr14	103928462	104052667	+	ENSG00000156414.18	protein_coding	C14orf75|HIG-1|HLS|NET54|SPGF30|SPNE	14q32.33	tudor domain containing 9	Biased expression in testis (RPKM 26.4) and thyroid (RPKM 5.7)
TDRG1	chr6	40334954	40379887	+	ENSG00000204091.7	antisense	LINC00532|lincRNA-NR_024015	6p21.2	testis development related 1	Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
TDRKH	chr1	151770107	151791416	-	ENSG00000182134.15	protein_coding	TDRD2	1q21.3	tudor and KH domain containing	Broad expression in testis (RPKM 11.8), brain (RPKM 4.0) and 21 other tissues
TDRKH-AS1	chr1	151790804	151794402	+	ENSG00000203288.3	antisense	-	1q21.3	TDRKH antisense RNA 1	-
TDRP	chr8	489792	545781	-	ENSG00000180190.11	protein_coding	C8orf42|Inm01|TDRP1|TDRP2	8p23.3	testis development related protein	Broad expression in placenta (RPKM 17.5), thyroid (RPKM 13.8) and 22 other tissues
TEAD1	chr11	12674591	12944483	+	ENSG00000187079.16	protein_coding	AA|NTEF-1|REF1|TCF-13|TCF13|TEAD-1|TEF-1	11p15.3	TEA domain transcription factor 1	This gene encodes a ubiquitous transcriptional enhancer factor that is a member of the TEA/ATTS domain family. This protein directs the transactivation of a wide variety of genes and, in placental cells, also acts as a transcriptional repressor. Mutations in this gene cause Sveinssons chorioretinal atrophy. Additional transcript variants have been described but their full-length natures have not been experimentally verified. [provided by RefSeq, May 2010]
TEAD2	chr19	49340595	49362457	-	ENSG00000074219.13	protein_coding	ETF|TEAD-2|TEF-4|TEF4	19q13.33	TEA domain transcription factor 2	Ubiquitous expression in endometrium (RPKM 17.4), ovary (RPKM 10.9) and 24 other tissues
TEAD3	chr6	35473597	35497076	-	ENSG00000007866.19	protein_coding	DTEF-1|ETFR-1|TEAD-3|TEAD5|TEF-5|TEF5	6p21.31	TEA domain transcription factor 3	This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is predominantly expressed in the placenta and is involved in the transactivation of the chorionic somatomammotropin-B gene enhancer. Translation of this protein is initiated at a non-AUG (AUA) start codon. [provided by RefSeq, Jul 2008]
TEAD4	chr12	2959330	3040673	+	ENSG00000197905.8	protein_coding	EFTR-2|RTEF1|TCF13L1|TEF-3|TEF3|TEFR-1|hRTEF-1B	12p13.33	TEA domain transcription factor 4	This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is preferentially expressed in the skeletal muscle, and binds to the M-CAT regulatory element found in promoters of muscle-specific genes to direct their gene expression. Alternatively spliced transcripts encoding distinct isoforms, some of which are translated through the use of a non-AUG (UUG) initiation codon, have been described for this gene. [provided by RefSeq, Jul 2008]
TEC	chr4	48135783	48269864	-	ENSG00000135605.12	protein_coding	PSCTK4	4p12-p11	tec protein tyrosine kinase	The protein encoded by this gene belongs to the Tec family of non-receptor protein-tyrosine kinases containing a pleckstrin homology domain. Tec family kinases are involved in the intracellular signaling mechanisms of cytokine receptors, lymphocyte surface antigens, heterotrimeric G-protein coupled receptors, and integrin molecules. They are also key players in the regulation of the immune functions. Tec kinase is an integral component of T cell signaling and has a distinct role in T cell activation. This gene may be associated with myelodysplastic syndrome. [provided by RefSeq, Jul 2008]
TECPR1	chr7	98214624	98252251	-	ENSG00000205356.9	protein_coding	-	7q21.3	tectonin beta-propeller repeat containing 1	Ubiquitous expression in spleen (RPKM 7.5), brain (RPKM 6.9) and 25 other tissues
TECPR2	chr14	102362963	102502481	+	ENSG00000196663.15	protein_coding	HSAN9|KIAA0329|SPG49	14q32.31	tectonin beta-propeller repeat containing 2	The protein encoded by this gene is a member of the tectonin beta-propeller repeat-containing (TECPR) family, and contains both TECPR and tryptophan-aspartic acid repeat (WD repeat) domains. This gene has been implicated in autophagy, as reduced expression levels of this gene have been associated with impaired autophagy. Recessive mutations in this gene have been associated with a hereditary form of spastic paraparesis (HSP). HSP is characterized by progressive spasticity and paralysis of the legs. There is also some evidence linking mutations in this gene with birdshot chorioretinopathy (BSCR), which results in inflammation of the choroid and retina. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
TECRP1	chr4	86949669	86950113	-	ENSG00000235043.3	processed_pseudogene	-	4q21.3	trans-2,3-enoyl-CoA reductase pseudogene 1	-
TECTA	chr11	121101173	121191493	+	ENSG00000109927.9	protein_coding	DFNA12|DFNA8|DFNB21	11q23.3	tectorin alpha	The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane.  Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness. [provided by RefSeq, Jul 2008]
TECTB	chr10	112283735	112305035	+	ENSG00000119913.4	protein_coding	-	10q25.2	tectorin beta	Low expression observed in reference dataset
TEDC1	chr14	 105489855	105499248	+	ENSG00000185347	protein-coding	C14orf80	14q32.33	tubulin epsilon and delta complex 1	Ubiquitous expression in stomach (RPKM 2.5), colon (RPKM 2.2) and 25 other tissues
TEDC2	chr16	 2460109	2464963	+	ENSG00000162062	protein-coding	C16orf59	16p13.3	tubulin epsilon and delta complex 2	Broad expression in testis (RPKM 2.6), bone marrow (RPKM 1.5) and 19 other tissues
TEF	chr22	41367333	41399326	+	ENSG00000167074.14	protein_coding	-	22q13.2	TEF transcription factor, PAR bZIP family member	Ubiquitous expression in brain (RPKM 21.5), ovary (RPKM 19.9) and 24 other tissues
TEFM	chr17	30897336	30906820	-	ENSG00000172171.10	protein_coding	C17orf42	17q11.2	transcription elongation factor, mitochondrial	Ubiquitous expression in kidney (RPKM 3.5), placenta (RPKM 3.5) and 25 other tissues
TEK	chr9	27109141	27230175	+	ENSG00000120156.20	protein_coding	CD202B|GLC3E|TIE-2|TIE2|VMCM|VMCM1	9p21.2	TEK receptor tyrosine kinase	This gene encodes a receptor that belongs to the protein tyrosine kinase Tie2 family. The encoded protein possesses a unique extracellular region that contains two immunoglobulin-like domains, three epidermal growth factor (EGF)-like domains and three fibronectin type III repeats. The ligand angiopoietin-1 binds to this receptor and mediates a signaling pathway that functions in embryonic vascular development. Mutations in this gene are associated with inherited venous malformations of the skin and mucous membranes. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2014]
TEKT1	chr17	6789133	6831761	-	ENSG00000167858.12	protein_coding	-	17p13.1	tektin 1	Restricted expression toward testis (RPKM 17.1)
TEKT2	chr1	36084075	36088275	+	ENSG00000092850.11	protein_coding	TEKTB1|TEKTIN-T|h-tektin-t	1p34.3	tektin 2	This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. This gene is expressed in the testis and its protein is localized to the flagella of the sperms, indicating that it may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]
TEKT3	chr17	15303811	15341641	-	ENSG00000125409.12	protein_coding	-	17p12	tektin 3	Restricted expression toward testis (RPKM 5.3)
TELO2	chr16	1493344	1510457	+	ENSG00000100726.14	protein_coding	CLK2|TEL2|YHFS	16p13.3	telomere maintenance 2	This gene encodes a protein that functions as an S-phase checkpoint protein in the cell cycle. The protein may also play a role in DNA repair.[provided by RefSeq, Mar 2009]
TEN1	chr17	75979220	76000586	+	ENSG00000257949.6	protein_coding	C17orf106	17q25.1	TEN1 subunit of CST complex	C17ORF106, or TEN1, appears to function in a telomere-associated complex with STN1 (OBFC1; MIM 613128) and CTC1 (C17ORF68; MIM 613129) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]
TENM1	chrX	124375903	124963817	-	ENSG00000009694.13	protein_coding	ODZ1|ODZ3|TEN-M1|TEN1|TNM|TNM1|ten-1	Xq25	teneurin transmembrane protein 1	The protein encoded by this gene belongs to the tenascin family and teneurin subfamily. It is expressed in the neurons and may function as a cellular signal transducer. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
TENM2	chr5	167284799	168264157	+	ENSG00000145934.16	protein_coding	ODZ2|TEN-M2|TEN2|TNM2|ten-2	5q34	teneurin transmembrane protein 2	Biased expression in heart (RPKM 7.7), brain (RPKM 2.7) and 6 other tissues
TENM4	chr11	78652831	79440948	-	ENSG00000149256.15	protein_coding	Doc4|ETM5|ODZ4|TEN4|TNM4|Ten-M4|ten-4	11q14.1	teneurin transmembrane protein 4	The protein encoded by this gene plays a role in establishing proper neuronal connectivity during development. Defects in this gene have been associated with hereditary essential tremor-5. [provided by RefSeq, Oct 2016]
TENT2	chr5	 79612441	79688246	+	ENSG00000164329	protein-coding	APD4|GLD2|PAPD4|TUT2	5q14.1	terminal nucleotidyltransferase 2	Ubiquitous expression in bone marrow (RPKM 14.6), lymph node (RPKM 12.6) and 25 other tissues
TENT4A	chr5	 6713432	6757044	+	ENSG00000112941	protein-coding	LAK-1|LAK1|PAPD7|POLK|POLS|TRF4|TRF4-1|TRF41|TUTASE5	5p15.31	terminal nucleotidyltransferase 4A	The protein encoded by this gene is a DNA polymerase that is likely involved in DNA repair. In addition, the encoded protein may be required for sister chromatid adhesion. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jan 2010]
TENT4B	chr16	 50152911	50235310	+	ENSG00000121274	protein-coding	PAPD5|TRF4-2|TUT3	16q12.1	terminal nucleotidyltransferase 4B	Ubiquitous expression in testis (RPKM 5.4), bone marrow (RPKM 4.7) and 25 other tissues
TENT5A	chr6	 81745730	81752681	-	ENSG00000112773	protein-coding	C6orf37|FAM46A|OI18|XTP11	6q14.1	terminal nucleotidyltransferase 5A	Broad expression in bone marrow (RPKM 86.6), salivary gland (RPKM 24.3) and 18 other tissues
TENT5B	chr1	 27005020	27012850	-	ENSG00000158246	protein-coding	FAM46|FAM46B	1p36.11	terminal nucleotidyltransferase 5B	Biased expression in esophagus (RPKM 30.7), skin (RPKM 15.3) and 11 other tissues
TENT5C	chr1	 117606048	117628389	+	ENSG00000183508	protein-coding	FAM46C	1p12	terminal nucleotidyltransferase 5C	Broad expression in bone marrow (RPKM 37.0), testis (RPKM 24.1) and 20 other tissues
TEPP	chr16	57976435	57988116	+	ENSG00000159648.11	protein_coding	-	16q21	testis, prostate and placenta expressed	Biased expression in testis (RPKM 1.8), thyroid (RPKM 0.7) and 11 other tissues
TEPSIN	chr17	81228277	81239091	-	ENSG00000167302.10	protein_coding	C17orf56|ENTHD2	17q25.3	TEPSIN adaptor related protein complex 4 accessory protein	Ubiquitous expression in spleen (RPKM 10.7), bone marrow (RPKM 9.4) and 25 other tissues
TERB1	chr16	66754976	66801620	-	ENSG00000249961.9	protein_coding	CCDC79	16q22.1	telomere repeat binding bouquet formation protein 1	Predicted to be involved in homologous chromosome pairing at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to be located in chromosome, telomeric region and nuclear inner membrane. Predicted to colocalize with shelterin complex. [provided by Alliance of Genome Resources, Apr 2022]
TERB2	chr15	44956702	44979229	+	ENSG00000167014.10	protein_coding	C15orf43	15q21.1	telomere repeat binding bouquet formation protein 2	Restricted expression toward testis (RPKM 12.0)
TERF1	chr8	73008864	73048122	+	ENSG00000147601.13	protein_coding	PIN2|TRBF1|TRF|TRF1|hTRF1-AS|t-TRF1	8q21.11	telomeric repeat binding factor 1	This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of telomerase, acting in cis to limit the elongation of individual chromosome ends. The protein structure contains a C-terminal Myb motif, a dimerization domain near its N-terminus and an acidic N-terminus. Two transcripts of this gene are alternatively spliced products. [provided by RefSeq, Jul 2008]
TERF2	chr16	69355561	69408571	-	ENSG00000132604.10	protein_coding	TRBF2|TRF2	16q22.1	telomeric repeat binding factor 2	This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. [provided by RefSeq, Jul 2008]
TERF2IP	chr16	75647786	75761872	+	ENSG00000166848.5	protein_coding	DRIP5|RAP1	16q23.1	TERF2 interacting protein	The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on chromosomes 5 and 22. [provided by RefSeq, Apr 2010]
TERT	chr5	1253147	1295069	-	ENSG00000164362.18	protein_coding	CMM9|DKCA2|DKCB4|EST2|PFBMFT1|TCS1|TP2|TRT|hEST2|hTRT	5p15.33	telomerase reverse transcriptase	Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]
TES	chr7	116210493	116258783	+	ENSG00000135269.17	protein_coding	TESS|TESS-2	7q31.2	testin LIM domain protein	Cancer-associated chromosomal changes often involve regions containing fragile sites. This gene maps to a commom fragile site on chromosome 7q31.2 designated FRA7G. This gene is similar to mouse Testin, a testosterone-responsive gene encoding a Sertoli cell secretory protein containing three LIM domains. LIM domains are double zinc-finger motifs that mediate protein-protein interactions between transcription factors, cytoskeletal proteins and signaling proteins. This protein is a negative regulator of cell growth and may act as a tumor suppressor. This scaffold protein may also play a role in cell adhesion, cell spreading and in the reorganization of the actin cytoskeleton. Multiple protein isoforms are encoded by transcript variants of this gene.[provided by RefSeq, Mar 2011]
TESC	chr12	117038923	117099479	-	ENSG00000088992.17	protein_coding	CHP3|TSC	12q24.22	tescalcin	Broad expression in salivary gland (RPKM 66.0), stomach (RPKM 63.6) and 14 other tissues
TESK1	chr9	35605305	35610041	+	ENSG00000107140.15	protein_coding	-	9p13.3	testis associated actin remodelling kinase 1	Ubiquitous expression in fat (RPKM 24.9), testis (RPKM 24.6) and 25 other tissues
TESK2	chr1	45343883	45491166	-	ENSG00000070759.16	protein_coding	-	1p34.1	testis associated actin remodelling kinase 2	Broad expression in prostate (RPKM 8.8), testis (RPKM 6.1) and 24 other tissues
TESMIN	chr11	68707440	68751564	-	ENSG00000132749.10	protein_coding	CXCDC2|MTL5|MTLT	11q13.3	testis expressed metallothionein like protein	Metallothionein proteins are highly conserved low-molecular-weight cysteine-rich proteins that are induced by and bind to heavy metal ions and have no enzymatic activity. They may play a central role in the regulation of cell growth and differentiation and are involved in spermatogenesis. This gene encodes a metallothionein-like protein which has been shown to be expressed differentially in mouse testis and ovary. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
TESPA1	chr12	54948018	54984746	-	ENSG00000135426.15	protein_coding	HSPC257|ITPRID3|KIAA0748	12q13.2	thymocyte expressed, positive selection associated 1	Biased expression in lymph node (RPKM 4.0), brain (RPKM 4.0) and 13 other tissues
TET1	chr10	68560656	68694482	+	ENSG00000138336.8	protein_coding	CXXC6|LCX|bA119F7.1	10q21.3	tet methylcytosine dioxygenase 1	DNA methylation is an epigenetic mechanism that is important for controlling gene expression. The protein encoded by this gene is a demethylase that belongs to the TET (ten-eleven translocation) family. Members of the TET protein family play a role in the DNA methylation process and gene activation. [provided by RefSeq, Sep 2015]
TET2	chr4	105145875	105279816	+	ENSG00000168769.13	protein_coding	IMD75|KIAA1546|MDS	4q24	tet methylcytosine dioxygenase 2	The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defects in this gene have been associated with several myeloproliferative disorders. Two variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
TET2-AS1	chr4	105171354	105178063	-	ENSG00000251586.1	antisense	-	4q24	TET2 antisense RNA 1	-
TET3	chr2	73986404	74108176	+	ENSG00000187605.15	protein_coding	BEFAHRS|hCG_40738	2p13.1	tet methylcytosine dioxygenase 3	Members of the ten-eleven translocation (TET) gene family, including TET3, play a role in the DNA methylation process (Langemeijer et al., 2009 [PubMed 19923888]).[supplied by OMIM, Nov 2010]
TEX10	chr9	100302077	100352939	-	ENSG00000136891.13	protein_coding	Ipi1|bA208F1.2	9q31.1	testis expressed 10	Broad expression in testis (RPKM 16.8), placenta (RPKM 10.7) and 25 other tissues
TEX12	chr11	112167372	112172559	+	ENSG00000150783.9	protein_coding	-	11q23.1	testis expressed 12	Biased expression in testis (RPKM 7.9) and small intestine (RPKM 0.2)
TEX14	chr17	58556678	58692055	-	ENSG00000121101.15	protein_coding	CT113|SPGF23	17q22	testis expressed 14, intercellular bridge forming factor	The protein encoded by this gene is necessary for intercellular bridges in germ cells, which are required for spermatogenesis. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]
TEX15	chr8	30831544	30890606	-	ENSG00000133863.7	protein_coding	CT42|SPGF25	8p12	testis expressed 15, meiosis and synapsis associated	This gene encodes a protein that is required for DNA double-strand break repair, chromosome synapsis, and meiotic recombination in spermatocytes. Male mice with a knockout of the orthologous gene are viable but sterile. Loss-of-function mutations in the orthologous mouse gene cause early meiotic arrest in spermatocytes, before the mid-pachytene stage. Naturally occurring mutations in this gene are associated with nonobstructive azoospermia. [provided by RefSeq, Apr 2017]
TEX2	chr17	64147227	64263301	-	ENSG00000136478.7	protein_coding	HT008|TMEM96	17q23.3	testis expressed 2	Broad expression in testis (RPKM 15.4), thyroid (RPKM 12.0) and 25 other tissues
TEX21P	chr14	64346171	64374666	-	ENSG00000234911.1	unitary_pseudogene	-	14q23.3	testis expressed 21, pseudogene	-
TEX22	chr14	105398579	105450106	+	ENSG00000226174.6	protein_coding	-	14q32.33	testis expressed 22	Broad expression in testis (RPKM 1.4), brain (RPKM 0.3) and 16 other tissues
TEX261	chr2	70985938	70994945	-	ENSG00000144043.11	protein_coding	TEG-261	2p13.3	testis expressed 261	Ubiquitous expression in thyroid (RPKM 34.5), testis (RPKM 26.0) and 25 other tissues
TEX264	chr3	51662693	51704323	+	ENSG00000164081.12	protein_coding	ZSIG11	3p21.2	testis expressed 264, ER-phagy receptor	Ubiquitous expression in testis (RPKM 25.1), kidney (RPKM 16.6) and 25 other tissues
TEX29	chr13	111316184	111344249	+	ENSG00000153495.10	protein_coding	C13orf16|bA474D23.1	13q34	testis expressed 29	Biased expression in testis (RPKM 4.7) and brain (RPKM 0.3)
TEX30	chr13	102765990	102773811	-	ENSG00000151287.16	protein_coding	C13orf27	13q33.1	testis expressed 30	Biased expression in testis (RPKM 28.8), liver (RPKM 4.4) and 7 other tissues
TEX38	chr1	46668855	46673594	+	ENSG00000186118.8	protein_coding	ATPAF1-AS1|C1orf223|THEG4	1p33	testis expressed 38	Restricted expression toward testis (RPKM 65.6)
TEX41	chr2	144667967	145262988	+	ENSG00000226674.8	lincRNA	DKFZp686O1327|LINC00953	2q22.3	testis expressed 41	Low expression observed in reference dataset
TEX44	chr2	231592901	231594283	+	ENSG00000177673.3	protein_coding	C2orf57	2q37.1	testis expressed 44	Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
TEX45	chr19	 7497548	7508450	+	ENSG00000198723	protein-coding	C19orf45	19p13.2	testis expressed 45	Biased expression in testis (RPKM 5.5) and adrenal (RPKM 0.3)
TEX46	chr1	 23010834	23015852	-	ENSG00000227868	protein-coding	C1orf234|TEX#	1p36.12	testis expressed 46	Restricted expression toward testis (RPKM 14.1)
TEX9	chr15	56244009	56445997	+	ENSG00000151575.14	protein_coding	-	15q21.3	testis expressed 9	-
TF	chr3	133745956	133779006	+	ENSG00000091513.14	protein_coding	HEL-S-71p|PRO1557|PRO2086|TFQTL1	3q22.1	transferrin	This gene encodes a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds one ion of ferric iron. The function of this protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. This protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter and allergens from serum. [provided by RefSeq, Sep 2009]
TFAP2B	chr6	50818723	50847613	+	ENSG00000008196.12	protein_coding	AP-2B|AP-2beta|AP2-B|PDA2	6p12.3	transcription factor AP-2 beta	This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008]
TFAP2C	chr20	56629302	56639283	+	ENSG00000087510.6	protein_coding	AP2-GAMMA|ERF1|TFAP2G|hAP-2g	20q13.31	transcription factor AP-2 gamma	The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [provided by RefSeq, Jul 2008]
TFAP2E	chr1	35573370	35595328	+	ENSG00000116819.6	protein_coding	AP-2epsilon|AP2E	1p34.3	transcription factor AP-2 epsilon	Broad expression in skin (RPKM 1.5), lymph node (RPKM 1.1) and 22 other tissues
TFAP4	chr16	4257186	4273075	-	ENSG00000090447.11	protein_coding	AP-4|bHLHc41	16p13.3	transcription factor AP-4	Transcription factors of the basic helix-loop-helix-zipper (bHLH-ZIP) family contain a basic domain, which is used for DNA binding, and HLH and ZIP domains, which are used for oligomerization. Transcription factor AP4 activates both viral and cellular genes by binding to the symmetrical DNA sequence CAGCTG (Mermod et al., 1988 [PubMed 2833704]; Hu et al., 1990 [PubMed 2123466]).[supplied by OMIM, Jul 2009]
TFB1M	chr6	155257509	155314493	-	ENSG00000029639.10	protein_coding	CGI-75|CGI75|mtTFB|mtTFB1	6q25.3	transcription factor B1, mitochondrial	The protein encoded by this gene is a dimethyltransferase that methylates the conserved stem loop of mitochondrial 12S rRNA. The encoded protein also is part of the basal mitochondrial transcription complex and is necessary for mitochondrial gene expression. The methylation and transcriptional activities of this protein are independent of one another. Variations in this gene may influence the severity of aminoglycoside-induced deafness (AID).[provided by RefSeq, Aug 2010]
TFCP2	chr12	51093663	51173134	-	ENSG00000135457.9	protein_coding	LBP1C|LSF|LSF1D|SEF|TFCP2C	12q13.12-q13.13	transcription factor CP2	This gene encodes a transcription factor that binds the alpha-globin promoter and activates transcription of the alpha-globin gene. The encoded protein regulates erythroid gene expression, plays a role in the transcriptional switch of globin gene promoters, and it activates many other cellular and viral gene promoters. The gene product interacts with certain inflammatory response factors, and polymorphisms of this gene may be involved in the pathogenesis of Alzheimers disease. [provided by RefSeq, Mar 2010]
TFCP2L1	chr2	121216587	121285207	-	ENSG00000115112.7	protein_coding	CRTR1|LBP-9|LBP9	2q14.2	transcription factor CP2 like 1	Biased expression in kidney (RPKM 25.1), salivary gland (RPKM 23.9) and 10 other tissues
TFDP1	chr13	113584721	113641470	+	ENSG00000198176.12	protein_coding	DILC|DP1|DRTF1|Dp-1	13q34	transcription factor Dp-1	This gene encodes a member of a family of transcription factors that heterodimerize with E2F proteins to enhance their DNA-binding activity and promote transcription from E2F target genes. The encoded protein functions as part of this complex to control the transcriptional activity of numerous genes involved in cell cycle progression from G1 to S phase. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1, 15, and X.[provided by RefSeq, Jan 2009]
TFDP2	chr3	141944428	142149544	-	ENSG00000114126.17	protein_coding	DP2	3q23	transcription factor Dp-2	The gene is a member of the transcription factor DP family. The encoded protein forms heterodimers with the E2F transcription factors resulting in transcriptional activation of cell cycle regulated genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
TFEB	chr6	41683978	41736259	-	ENSG00000112561.17	protein_coding	ALPHATFEB|BHLHE35|TCFEB	6p21.1	transcription factor EB	Ubiquitous expression in spleen (RPKM 9.7), lymph node (RPKM 8.3) and 25 other tissues
TFEC	chr7	115935148	116159896	-	ENSG00000105967.15	protein_coding	TCFEC|TFE-C|TFEC-L|TFECL|bHLHe34|hTFEC-L	7q31.2	transcription factor EC	This gene encodes a member of the micropthalmia (MiT) family of basic helix-loop-helix leucine zipper transcription factors. MiT transcription factors regulate the expression of target genes by binding to E-box recognition sequences as homo- or heterodimers, and play roles in multiple cellular processes including survival, growth and differentiation. The encoded protein is a transcriptional activator of the nonmuscle myosin II heavy chain-A gene, and may also co-regulate target genes in osteoclasts as a heterodimer with micropthalmia-associated transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
TFG	chr3	100709331	100748966	+	ENSG00000114354.13	protein_coding	HMSNP|SPG57|TF6|TRKT3	3q12.2	trafficking from ER to golgi regulator	There are several documented fusion oncoproteins encoded partially by this gene. This gene also participates in several oncogenic rearrangements resulting in anaplastic lymphoma and mixoid chondrosarcoma, and may play a role in the NF-kappaB pathway. Multiple transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]
TFIP11	chr22	26491225	26512505	-	ENSG00000100109.16	protein_coding	NTR1|STIP|STIP-1|Spp382|TIP39|bK445C9.6	22q12.1	tuftelin interacting protein 11	This gene encodes a protein component of the spliceosome that promotes the release of the lariat-intron during late-stage splicing through the recruitment of a pre-mRNA splicing factor called DEAH-box helicase 15. The encoded protein contains a G-patch domain, a hallmark of RNA-processing proteins, that binds DEAH-box helicase 15. This protein contains an atypical nuclear localization sequence as well as a nuclear speckle-targeting sequence, enabling it to localize to distinct speckled regions within the cell nucleus. Polymorphisms in this gene are associated with dental caries suggesting a role in amelogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
TFPI	chr2	187464230	187565760	-	ENSG00000003436.15	protein_coding	EPI|LACI|TFI|TFPI1	2q32.1	tissue factor pathway inhibitor	This gene encodes a Kunitz-type serine protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibrin clot. The product of this gene inhibits the activated factor X and VIIa-TF proteases in an autoregulatory loop. Inhibition of the encoded protein restores hemostasis in animal models of hemophilia. This gene encodes multiple protein isoforms that differ in their inhibitory activity, specificity and cellular localization. [provided by RefSeq, Jul 2016]
TFPI2	chr7	93885397	93890991	-	ENSG00000105825.11	protein_coding	PP5|REF1|TFPI-2	7q21.3	tissue factor pathway inhibitor 2	This gene encodes a member of the Kunitz-type serine proteinase inhibitor family. The protein can inhibit a variety of serine proteases including factor VIIa/tissue factor, factor Xa, plasmin, trypsin, chymotryspin and plasma kallikrein. This gene has been identified as a tumor suppressor gene in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
TFPT	chr19	54107013	54115675	-	ENSG00000105619.13	protein_coding	FB1|INO80F|amida	19q13.42	TCF3 fusion partner	Ubiquitous expression in brain (RPKM 11.2), prostate (RPKM 8.4) and 25 other tissues
TFR2	chr7	100620416	100642779	-	ENSG00000106327.12	protein_coding	HFE3|TFRC2	7q22.1	transferrin receptor 2	This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]
TFRC	chr3	196027183	196082189	-	ENSG00000072274.12	protein_coding	CD71|IMD46|T9|TFR|TFR1|TR|TRFR|p90	3q29	transferrin receptor	This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]
TG	chr8	132866958	133134903	+	ENSG00000042832.11	protein_coding	AITD3|TGN	8q24.22	thyroglobulin	Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009]
TGFA	chr2	70447280	70554193	-	ENSG00000163235.15	protein_coding	TFGA	2p13.3	transforming growth factor alpha	This gene encodes a growth factor that is a ligand for the epidermal growth factor receptor, which activates a signaling pathway for cell proliferation, differentiation and development. This protein may act as either a transmembrane-bound ligand or a soluble ligand. This gene has been associated with many types of cancers, and it may also be involved in some cases of cleft lip/palate. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
TGFB1	chr19	41301587	41353911	-	ENSG00000105329.9	protein_coding	CED|DPD1|IBDIMDE|LAP|TGF-beta1|TGFB|TGFbeta	19q13.2	transforming growth factor beta 1	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]
TGFB1I1	chr16	31471585	31477960	+	ENSG00000140682.18	protein_coding	ARA55|HIC-5|HIC5|TSC-5	16p11.2	transforming growth factor beta 1 induced transcript 1	This gene encodes a coactivator of the androgen receptor, a transcription factor which is activated by androgen and has a key role in male sexual differentiation. The encoded protein is thought to regulate androgen receptor activity and may have a role to play in the treatment of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
TGFB2	chr1	218346235	218444619	+	ENSG00000092969.11	protein_coding	G-TSF|LDS4|TGF-beta2	1q41	transforming growth factor beta 2	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. Disruption of the TGF-beta/SMAD pathway has been implicated in a variety of human cancers. A chromosomal translocation that includes this gene is associated with Peters anomaly, a congenital defect of the anterior chamber of the eye. Mutations in this gene may be associated with Loeys-Dietz syndrome. This gene encodes multiple isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]
TGFB2-AS1	chr1	218344196	218345678	-	ENSG00000232480.1	antisense	-	1q41	TGFB2 antisense RNA 1 (head to head)	-
TGFB3	chr14	75958099	75982991	-	ENSG00000119699.7	protein_coding	ARVD|ARVD1|LDS5|RNHF|TGF-beta3	14q24.3	transforming growth factor beta 3	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016]
TGFBI	chr5	136028895	136063818	+	ENSG00000120708.16	protein_coding	BIGH3|CDB1|CDG2|CDGG1|CSD|CSD1|CSD2|CSD3|EBMD|LCD1	5q31.1	transforming growth factor beta induced	This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion. Mutations in this gene are associated with multiple types of corneal dystrophy. [provided by RefSeq, Jul 2008]
TGFBR1	chr9	99104038	99154192	+	ENSG00000106799.12	protein_coding	AAT5|ACVRLK4|ALK-5|ALK5|ESS1|LDS1|LDS1A|LDS2A|MSSE|SKR4|TBR-i|TBRI|TGFR-1|tbetaR-I	9q22.33	transforming growth factor beta receptor 1	The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
TGFBR2	chr3	30606502	30694142	+	ENSG00000163513.17	protein_coding	AAT3|FAA3|LDS1B|LDS2|LDS2B|MFS2|RIIC|TAAD2|TBR-ii|TBRII|TGFR-2|TGFbeta-RII	3p24.1	transforming growth factor beta receptor 2	The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017]
TGFBR3	chr1	91680343	91906335	-	ENSG00000069702.10	protein_coding	BGCAN|betaglycan	1p22.1	transforming growth factor beta receptor 3	This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.[provided by RefSeq, Sep 2010]
TGFBRAP1	chr2	105264391	105330034	-	ENSG00000135966.12	protein_coding	TRAP-1|TRAP1|VPS3	2q12.1-q12.2	transforming growth factor beta receptor associated protein 1	This gene encodes a protein that binds to transforming growth factor-beta (TGF-beta) receptors and plays a role in TGF-beta signaling. The encoded protein acts as a chaprone in signaling downstream of TGF-beta. It is involved in signal-dependent association with SMAD4. The protein is also a component of mammalian CORVET, a multisubunit tethering protein complex that is involved in fusion of early endosomes. [provided by RefSeq, Jun 2016]
TGIF1	chr18	3411608	3459978	+	ENSG00000177426.20	protein_coding	HPE4|TGIF	18p11.31	TGFB induced factor homeobox 1	The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2013]
TGIF2	chr20	36573488	36593950	+	ENSG00000118707.9	protein_coding	-	20q11.23	TGFB induced factor homeobox 2	Ubiquitous expression in endometrium (RPKM 10.3), lymph node (RPKM 7.6) and 25 other tissues
TGM1	chr14	24249114	24264432	-	ENSG00000092295.11	protein_coding	ARCI1|ICR2|KTG|LI|LI1|TGASE|TGK	14q12	transglutaminase 1	The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two copies of a 22 nt repeat unit in its 3 UTR. Mutations in this gene have been associated with autosomal recessive lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). [provided by RefSeq, Jul 2008]
TGM2	chr20	38127387	38166578	-	ENSG00000198959.11	protein_coding	G(h)|TG(C)|TGC|hTG2|tTG	20q11.23	transglutaminase 2	Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene acts as a monomer, is induced by retinoic acid, and appears to be involved in apoptosis. Finally, the encoded protein is the autoantigen implicated in celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
TGM5	chr15	43232595	43266857	-	ENSG00000104055.15	protein_coding	PSS2|TGASE5|TGASEX|TGM6|TGMX|TGX	15q15.2	transglutaminase 5	This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009]
TGM7	chr15	43276280	43302255	-	ENSG00000159495.7	protein_coding	TGMZ	15q15.2-q15.3	transglutaminase 7	Transglutaminases (TGM; EC 2.3.2.13) are a family of structurally and functionally related enzymes that stabilize protein assemblies through the formation of gamma-glutamyl-epsilon lysine crosslinks. For additional background information on transglutaminases, see TGM1 (MIM 190195).[supplied by OMIM, Jul 2002]
TGOLN2	chr2	85318020	85328425	-	ENSG00000152291.13	protein_coding	TGN38|TGN46|TGN48|TGN51|TTGN2|hTGN46|hTGN48|hTGN51	2p11.2	trans-golgi network protein 2	This gene encodes a type I integral membrane protein that is localized to the trans-Golgi network, a major sorting station for secretory and membrane proteins. The encoded protein cycles between early endosomes and the trans-Golgi network, and may play a role in exocytic vesicle formation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
TGS1	chr8	55773142	55825448	+	ENSG00000137574.10	protein_coding	NCOA6IP|PIMT|PIPMT	8q12.1	trimethylguanosine synthase 1	Ubiquitous expression in lymph node (RPKM 6.7), appendix (RPKM 5.1) and 25 other tissues
TH	chr11	2163929	2171877	-	ENSG00000180176.14	protein_coding	DYT14|DYT5b|TYH	11p15.5	tyrosine hydroxylase	The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
TH2LCRR	chr5	132630589	132664272	-	ENSG00000223442.1	antisense	TH2-LCR	5q31.1	T helper type 2 locus control region associated RNA	Ubiquitous expression in testis (RPKM 5.8), thyroid (RPKM 3.5) and 25 other tissues
THA1P	chr17	78248493	78254416	-	ENSG00000267676.1	unitary_pseudogene	GLY1	17q25.3	threonine aldolase 1, pseudogene	-
THADA	chr2	43230836	43596046	-	ENSG00000115970.18	protein_coding	ARMC13|GITA	2p21	THADA armadillo repeat containing	This gene is the target of 2p21 choromosomal aberrations in benign thyroid adenomas. Single nucleotide polymorphisms (SNPs) in this gene may be associated with type 2 diabetes and polycystic ovary syndrome. The encoded protein is likely involved in the death receptor pathway and apoptosis. [provided by RefSeq, Sep 2016]
THAP1	chr8	42836674	42843325	-	ENSG00000131931.8	protein_coding	DYT6	8p11.21	THAP domain containing 1	The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
THAP10	chr15	70881342	70892785	-	ENSG00000129028.8	protein_coding	-	15q23	THAP domain containing 10	Ubiquitous expression in brain (RPKM 3.1), thyroid (RPKM 2.1) and 24 other tissues
THAP11	chr16	67842082	67844195	+	ENSG00000168286.2	protein_coding	CTG-B43a|CTG-B45d|HRIHFB2206|RONIN	16q22.1	THAP domain containing 11	The protein encoded by this gene contains a THAP domain, which is a conserved DNA-binding domain that has striking similarity to the site-specific DNA-binding domain (DBD) of Drosophila P element transposases. [provided by RefSeq, Jul 2008]
THAP12	chr11	76349956	76380971	-	ENSG00000137492.7	protein_coding	DAP4|P52rIPK|PRKRIR|THAP0	11q13.5	THAP domain containing 12	Predicted to enable DNA binding activity; metal ion binding activity; and protein dimerization activity. Predicted to be involved in negative regulation of cell population proliferation and signal transduction. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
THAP12P2	chr3	86012561	86015120	+	ENSG00000243915.1	processed_pseudogene	PRKRIRP2	3p12.1	THAP domain containing 12 pseudogene 2	-
THAP12P7	chr8	78760142	78762431	-	ENSG00000253919.1	processed_pseudogene	PRKRIRP7	8q21.13	THAP domain containing 12 pseudogene 7	-
THAP3	chr1	6624866	6635586	+	ENSG00000041988.15	protein_coding	-	1p36.31	THAP domain containing 3	-
THAP4	chr2	241584405	241637449	-	ENSG00000176946.11	protein_coding	CGI-36|Nb(III)|PP238	2q37.3	THAP domain containing 4	Ubiquitous expression in testis (RPKM 14.3), heart (RPKM 13.9) and 25 other tissues
THAP5	chr7	108554543	108569750	-	ENSG00000177683.13	protein_coding	-	7q31.1	THAP domain containing 5	-
THAP8	chr19	36034985	36054762	-	ENSG00000161277.10	protein_coding	-	19q13.12	THAP domain containing 8	-
THAP9	chr4	82900684	82919969	+	ENSG00000168152.12	protein_coding	hTh9	4q21.22	THAP domain containing 9	Enables sequence-specific DNA binding activity and transposase activity. Involved in DNA integration and transposition, DNA-mediated. [provided by Alliance of Genome Resources, Apr 2022]
THAP9-AS1	chr4	82893009	82900960	-	ENSG00000251022.6	antisense	-	4q21.22	THAP9 antisense RNA 1	-
THBS1	chr15	39581079	39599466	+	ENSG00000137801.10	protein_coding	THBS|THBS-1|TSP|TSP-1|TSP1	15q14	thrombospondin 1	The protein encoded by this gene is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1. This protein has been shown to play roles in platelet aggregation, angiogenesis, and tumorigenesis. [provided by RefSeq, Jul 2008]
THBS2	chr6	169215780	169254044	-	ENSG00000186340.14	protein_coding	TSP2	6q27	thrombospondin 2	The protein encoded by this gene belongs to the thrombospondin family. It is a disulfide-linked homotrimeric glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein has been shown to function as a potent inhibitor of tumor growth and angiogenesis. Studies of the mouse counterpart suggest that this protein may modulate the cell surface properties of mesenchymal cells and be involved in cell adhesion and migration. [provided by RefSeq, Jul 2008]
THBS3	chr1	155195588	155209051	-	ENSG00000169231.13	protein_coding	TSP3	1q22	thrombospondin 3	The protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentameric molecule linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. Alternate splicing results in coding and non-coding transcript variants. [provided by RefSeq, Nov 2011]
THBS4	chr5	79991311	80083287	+	ENSG00000113296.14	protein_coding	TSP-4|TSP4	5q14.1	thrombospondin 4	The protein encoded by this gene belongs to the thrombospondin protein family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentamer and can bind to heparin and calcium. It is involved in local signaling in the developing and adult nervous system, and it contributes to spinal sensitization and neuropathic pain states. This gene is activated during the stromal response to invasive breast cancer. It may also play a role in inflammatory responses in Alzheimers disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
THEG	chr19	361747	376670	-	ENSG00000105549.10	protein_coding	CT56|THEG1	19p13.3	theg spermatid protein	This gene is specifically expressed in the nucleus of haploid male germ cells. The orthologous gene in mice encodes a protein that may play a role in protein assembly through interactions with T-complex protein 1 subunit epsilon. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
THEGL	chr4	56530609	56603507	+	ENSG00000249693.2	protein_coding	-	4q12	theg spermatid protein like	-
THEM4	chr1	151873584	151909808	-	ENSG00000159445.12	protein_coding	CTMP	1q21.3	thioesterase superfamily member 4	Protein kinase B (PKB) is a major downstream target of receptor tyrosine kinases that signal via phosphatidylinositol 3-kinase. Upon cell stimulation, PKB is translocated to the plasma membrane, where it is phosphorylated in the C-terminal regulatory domain. The protein encoded by this gene negatively regulates PKB activity by inhibiting phosphorylation. Transcription of this gene is commonly downregulated in glioblastomas. [provided by RefSeq, Jul 2008]
THEM5	chr1	151847263	151853697	-	ENSG00000196407.11	protein_coding	ACOT15	1q21.3	thioesterase superfamily member 5	Biased expression in skin (RPKM 49.5) and brain (RPKM 1.6)
THEM6	chr8	142727203	142736927	+	ENSG00000130193.7	protein_coding	C8orf55|DSCD75	8q24.3	thioesterase superfamily member 6	Ubiquitous expression in kidney (RPKM 10.3), thyroid (RPKM 7.0) and 25 other tissues
THEM7P	chr11	32112049	32343409	-	ENSG00000227160.3	transcribed_unitary_pseudogene	-	11p13	thioesterase superfamily member 7, pseudogene	-
THEMIS	chr6	127708072	127918631	-	ENSG00000172673.10	protein_coding	C6orf190|C6orf207|GASP|SPOT|TSEPA	6q22.33	thymocyte selection associated	This gene encodes a protein that plays a regulatory role in both positive and negative T-cell selection during late thymocyte development. The protein functions through T-cell antigen receptor signaling, and is necessary for proper lineage commitment and maturation of T-cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
THEMIS2	chr1	27872543	27886685	+	ENSG00000130775.15	protein_coding	C1orf38|ICB-1|ICB1	1p35.3	thymocyte selection associated family member 2	Broad expression in bone marrow (RPKM 58.1), spleen (RPKM 43.6) and 17 other tissues
THG1L	chr5	157731197	157741448	+	ENSG00000113272.13	protein_coding	ICF45|IHG-1|IHG1|SCAR28|THG1|hTHG1	5q33.3	tRNA-histidine guanylyltransferase 1 like	The protein encoded by this gene is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase mitochondrial biogenesis, which could lead to renal fibrosis. Another function of this protein is that of a guanyltransferase, adding GMP to the 5 end of tRNA(His). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
THNSL1	chr10	25016658	25026664	+	ENSG00000185875.12	protein_coding	TSH1	10p12.1	threonine synthase like 1	Ubiquitous expression in liver (RPKM 5.2), thyroid (RPKM 5.2) and 24 other tissues
THOC1	chr18	214520	268050	-	ENSG00000079134.11	protein_coding	HPR1|P84|P84N5	18p11.32	THO complex 1	HPR1 is part of the TREX (transcription/export) complex, which includes TEX1 (MIM 606929), THO2 (MIM 300395), ALY (MIM 604171), and UAP56 (MIM 142560).[supplied by OMIM, Nov 2010]
THOC3	chr5	175917873	176034680	-	ENSG00000051596.9	protein_coding	THO3|hTREX45	5q35.2	THO complex 3	This gene encodes a component of the nuclear THO transcription elongation complex, which is part of the larger transcription export (TREX) complex that couples messenger RNA processing and export. In humans, the transcription export complex is recruited to the 5-end of messenger RNAs in a splicing- and cap-dependent manner. Studies of a related complex in mouse suggest that the metazoan transcription export complex is involved in cell differentiation and development. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, May 2013]
THOC5	chr22	29505879	29555216	-	ENSG00000100296.13	protein_coding	C22orf19|Fmip|PK1.3|fSAP79	22q12.2	THO complex 5	Ubiquitous expression in testis (RPKM 10.3), endometrium (RPKM 6.9) and 25 other tissues
THOC6	chr16	3024027	3027755	+	ENSG00000131652.13	protein_coding	WDR58|fSAP35	16p13.3	THO complex 6	This gene encodes a subunit of the multi-protein THO complex, which is involved in coordination between transcription and mRNA processing. The THO complex is a component of the TREX (transcription/export) complex, which is involved in transcription and export of mRNAs. A missense mutation in this gene is associated with a neurodevelopmental disorder called Beaulieu-Boycott-Innes syndrome. [provided by RefSeq, Dec 2016]
THOC7	chr3	63833870	63863903	-	ENSG00000163634.11	protein_coding	NIF3L1BP1|fSAP24|hTREX30	3p14.1	THO complex 7	Ubiquitous expression in adrenal (RPKM 20.0), colon (RPKM 19.8) and 25 other tissues
THOP1	chr19	2785460	2815807	+	ENSG00000172009.14	protein_coding	EP24.15|MEPD_HUMAN|MP78|TOP	19p13.3	thimet oligopeptidase 1	The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. This protein also cleaves neuropeptides under 20 aa in length and can degrade beta-amyloid precursor protein to amyloidogenic peptides. [provided by RefSeq, Nov 2015]
THPO	chr3	184371935	184378144	-	ENSG00000090534.17	protein_coding	MGDF|MKCSF|ML|MPLLG|THCYT1|TPO	3q27.1	thrombopoietin	Megakaryocytopoiesis is the cellular development process that leads to platelet production. The main functional protein encoded by this gene is a humoral growth factor that is necessary for megakaryocyte proliferation and maturation, as well as for thrombopoiesis. This protein is the ligand for MLP/C_MPL, the product of myeloproliferative leukemia virus oncogene. Mutations in this gene are the cause of thrombocythemia 1. Alternative promoter usage and differential splicing result in multiple transcript variants differing in the 5 UTR and/or coding region. Multiple AUG codons upstream of the main open reading frame (ORF) have been identified, and these upstream AUGs inhibit translation of the main ORF at different extent. [provided by RefSeq, Feb 2014]
THRA	chr17	40058290	40093867	+	ENSG00000126351.12	protein_coding	AR7|CHNG6|EAR7|ERB-T-1|ERBA|ERBA1|NR1A1|THRA1|THRA2|TRalpha|c-ERBA-1	17q21.1	thyroid hormone receptor alpha	The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
THRB	chr3	24117160	24495282	-	ENSG00000151090.17	protein_coding	C-ERBA-2|C-ERBA-BETA|ERBA2|GRTH|NR1A2|PRTH|THR1|THRB1|THRB2|TRbeta	3p24.2	thyroid hormone receptor beta	The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that the different receptors, while having certain extent of redundancy, may mediate different functions of thyroid hormone. Mutations in this gene are known to be a cause of generalized thyroid hormone resistance (GTHR), a syndrome characterized by goiter and high levels of circulating thyroid hormone (T3-T4), with normal or slightly elevated thyroid stimulating hormone (TSH). Several alternatively spliced transcript variants encoding the same protein have been observed for this gene. [provided by RefSeq, Jul 2008]
THRSP	chr11	78063861	78068351	+	ENSG00000151365.2	protein_coding	LPGP1|Lpgp|S14|SPOT14|THRP	11q14.1	thyroid hormone responsive	The protein encoded by this gene is similar to the gene product of S14, a rat gene whose expression is limited to liver and adipose tissue and is controlled by nutritional and hormonal factors. This gene has been shown to be expressed in liver and adipocytes, particularly in lipomatous modules. It is also found to be expressed in lipogenic breast cancers, which suggests a role in controlling tumor lipid metabolism. [provided by RefSeq, Jul 2008]
THSD1	chr13	52377167	52406494	-	ENSG00000136114.15	protein_coding	ANIB12|TMTSP|UNQ3010	13q14.3	thrombospondin type 1 domain containing 1	The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009]
THSD4	chr15	71096952	71783383	+	ENSG00000187720.14	protein_coding	ADAMTSL-6|ADAMTSL6|FVSY9334|PRO34005	15q23	thrombospondin type 1 domain containing 4	Broad expression in esophagus (RPKM 9.7), prostate (RPKM 9.0) and 20 other tissues
THSD7A	chr7	11370357	11832198	-	ENSG00000005108.15	protein_coding	-	7p21.3	thrombospondin type 1 domain containing 7A	Broad expression in kidney (RPKM 4.1), placenta (RPKM 2.1) and 17 other tissues
THSD7B	chr2	136765545	137677717	+	ENSG00000144229.11	protein_coding	-	2q22.1	thrombospondin type 1 domain containing 7B	-
THUMPD1	chr16	20702816	20742084	-	ENSG00000066654.13	protein_coding	Tan1	16p12.3	THUMP domain containing 1	Ubiquitous expression in prostate (RPKM 15.3), endometrium (RPKM 11.9) and 25 other tissues
THUMPD1P1	chr21	28901779	28903697	-	ENSG00000215317.2	processed_pseudogene	-	21q21.3	THUMP domain containing 1 pseudogene 1	-
THUMPD2	chr2	39736060	39779267	-	ENSG00000138050.14	protein_coding	C2orf8	2p22.1|2p22-p21	THUMP domain containing 2	Ubiquitous expression in bone marrow (RPKM 6.9), ovary (RPKM 4.8) and 25 other tissues
THUMPD3	chr3	9362842	9386791	+	ENSG00000134077.15	protein_coding	-	3p25.3	THUMP domain containing 3	-
THUMPD3-AS1	chr3	9349689	9398579	-	ENSG00000206573.8	antisense	SETD5-AS1	3p25.3	THUMPD3 antisense RNA 1	Ubiquitous expression in thyroid (RPKM 8.8), prostate (RPKM 8.4) and 25 other tissues
THY1	chr11	119417378	119424985	-	ENSG00000154096.13	protein_coding	CD90|CDw90	11q23.3	Thy-1 cell surface antigen	This gene encodes a cell surface glycoprotein and member of the immunoglobulin superfamily of proteins. The encoded protein is involved in cell adhesion and cell communication in numerous cell types, but particularly in cells of the immune and nervous systems. The encoded protein is widely used as a marker for hematopoietic stem cells. This gene may function as a tumor suppressor in nasopharyngeal carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
THYN1	chr11	134248279	134253370	-	ENSG00000151500.14	protein_coding	HSPC144|MDS012|MY105|THY28|THY28KD	11q25	thymocyte nuclear protein 1	This gene encodes a protein that is highly conserved among vertebrates and plant species and may be involved in the induction of apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
TIA1	chr2	70209444	70248660	-	ENSG00000116001.15	protein_coding	ALS26|TIA-1|WDM	2p13.3	TIA1 cytotoxic granule associated RNA binding protein	The product encoded by this gene is a member of a RNA-binding protein family and possesses nucleolytic activity against cytotoxic lymphocyte (CTL) target cells. It has been suggested that this protein may be involved in the induction of apoptosis as it preferentially recognizes poly(A) homopolymers and induces DNA fragmentation in CTL targets. The major granule-associated species is a 15-kDa protein that is thought to be derived from the carboxyl terminus of the 40-kDa product by proteolytic processing. Alternative splicing resulting in different isoforms has been found for this gene. [provided by RefSeq, May 2017]
TIAF1	chr17	29073521	29078857	-	ENSG00000221995.5	protein_coding	MAJN|SPR210	17q11.2	TGFB1-induced anti-apoptotic factor 1	-
TIAL1	chr10	119571802	119597029	-	ENSG00000151923.17	protein_coding	TCBP|TIAR	10q26.11	TIA1 cytotoxic granule associated RNA binding protein like 1	The protein encoded by this gene is a member of a family of RNA-binding proteins, has three RNA recognition motifs (RRMs), and binds adenine and uridine-rich elements in mRNA and pre-mRNAs of a wide range of genes. It regulates various activities including translational control, splicing and apoptosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The different isoforms have been show to function differently with respect to post-transcriptional silencing. [provided by RefSeq, Jul 2008]
TIAM2	chr6	154832697	155257723	+	ENSG00000146426.17	protein_coding	STEF|TIAM-2	6q25.2-q25.3	TIAM Rac1 associated GEF 2	This gene encodes a guanine nucleotide exchange factor. A highly similar mouse protein specifically activates ras-related C3 botulinum substrate 1, converting this Rho-like guanosine triphosphatase (GTPase) from a guanosine diphosphate-bound inactive state to a guanosine triphosphate-bound active state. The encoded protein may play a role in neural cell development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
TICAM1	chr19	4815932	4831704	-	ENSG00000127666.9	protein_coding	IIAE6|MyD88-3|PRVTIRB|TICAM-1|TRIF	19p13.3	toll like receptor adaptor molecule 1	This gene encodes an adaptor protein containing a Toll/interleukin-1 receptor (TIR) homology domain, which is an intracellular signaling domain that mediates protein-protein interactions between the Toll-like receptors (TLRs) and signal-transduction components. This protein is involved in native immunity against invading pathogens. It specifically interacts with toll-like receptor 3, but not with other TLRs, and this association mediates dsRNA induction of interferon-beta through activation of nuclear factor kappa-B, during an antiviral immune response. Mutations in this gene are associated with encephalopathy, acute, infection-induced. [provided by RefSeq, Jul 2020]
TICAM2	chr5	115578650	115602479	-	ENSG00000243414.5	protein_coding	MyD88-4|TICAM-2|TIRAP3|TIRP|TRAM	5q22.3	toll like receptor adaptor molecule 2	TIRP is a Toll/interleukin-1 receptor (IL1R; MIM 147810) (TIR) domain-containing adaptor protein involved in Toll receptor signaling (see TLR4; MIM 603030).[supplied by OMIM, Apr 2004]
TICRR	chr15	89575482	89631056	+	ENSG00000140534.13	protein_coding	C15orf42|SLD3|Treslin	15q26.1	TOPBP1 interacting checkpoint and replication regulator	Treslin is involved in the initiation of DNA replication (Kumagai et al., 2010 [PubMed 20116089]).[supplied by OMIM, Apr 2010]
TIE1	chr1	43300993	43323108	+	ENSG00000066056.13	protein_coding	JTK14|LMPHM11|TIE	1p34.2	tyrosine kinase with immunoglobulin like and EGF like domains 1	This gene encodes a member of the tyrosine protein kinase family. The encoded protein plays a critical role in angiogenesis and blood vessel stability by inhibiting angiopoietin 1 signaling through the endothelial receptor tyrosine kinase Tie2. Ectodomain cleavage of the encoded protein relieves inhibition of Tie2 and is mediated by multiple factors including vascular endothelial growth factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
TIFA	chr4	112274542	112285903	-	ENSG00000145365.10	protein_coding	T2BP|T6BP|TIFAA	4q25	TRAF interacting protein with forkhead associated domain	This gene encodes an adapter protein involved in adaptive and innate immunity. This protein includes a forkhead-associated (FHA) domain that specifically binds to phosphorylated serine and threonine residues. In response to bacterial infection, the encoded host cell protein undergoes an intermolecular interaction between the FHA domain and a phosphorylated threonine that leads to protein oligomerization and stimulation of the NF-kappa B and other downstream signaling pathways. This protein exhibits reduced expression in hepatocellular carcinoma and may suppress hepatocellular carcinoma progression. This protein may also play a role in the DNA damage response. [provided by RefSeq, Jun 2018]
TIFAB	chr5	135444218	135452399	-	ENSG00000255833.1	protein_coding	-	5q31.1	TIFA inhibitor	Biased expression in lymph node (RPKM 4.5), appendix (RPKM 3.4) and 12 other tissues
TIGAR	chr12	4307763	4354593	+	ENSG00000078237.6	protein_coding	C12orf5|FR2BP	12p13.32	TP53 induced glycolysis regulatory phosphatase	This gene is regulated as part of the p53 tumor suppressor pathway and encodes a protein with sequence similarity to the bisphosphate domain of the glycolytic enzyme that degrades fructose-2,6-bisphosphate. The protein functions by blocking glycolysis and directing the pathway into the pentose phosphate shunt. Expression of this protein also protects cells from DNA damaging reactive oxygen species and provides some protection from DNA damage-induced apoptosis. The 12p13.32 region that includes this gene is paralogous to the 11q13.3 region. [provided by RefSeq, Jul 2008]
TIGD1	chr2	232547968	232550592	-	ENSG00000221944.6	protein_coding	EEYORE	2q37.1	tigger transposable element derived 1	The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]
TIGD2	chr4	89111500	89114899	+	ENSG00000180346.3	protein_coding	HEL106	4q22.1	tigger transposable element derived 2	The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]
TIGD3	chr11	65354767	65357613	+	ENSG00000173825.6	protein_coding	-	11q13.1	tigger transposable element derived 3	Broad expression in testis (RPKM 2.0), small intestine (RPKM 1.1) and 14 other tissues
TIGD4	chr4	152769354	152779764	-	ENSG00000169989.2	protein_coding	-	4q31.3	tigger transposable element derived 4	Broad expression in testis (RPKM 2.4), thyroid (RPKM 0.5) and 15 other tissues
TIGD5	chr8	143597835	143603224	+	ENSG00000179886.5	protein_coding	-	8q24.3	tigger transposable element derived 5	-
TIGD6	chr5	149993118	150001167	-	ENSG00000164296.6	protein_coding	-	5q32	tigger transposable element derived 6	Ubiquitous expression in prostate (RPKM 1.9), testis (RPKM 1.8) and 25 other tissues
TIGD7	chr16	3298832	3305729	-	ENSG00000140993.10	protein_coding	Sancho	16p13.3	tigger transposable element derived 7	The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]
TIGIT	chr3	114276913	114310288	+	ENSG00000181847.11	protein_coding	VSIG9|VSTM3|WUCAM	3q13.31	T cell immunoreceptor with Ig and ITIM domains	This gene encodes a member of the PVR (poliovirus receptor) family of immunoglobin proteins. The product of this gene is expressed on several classes of T cells including follicular B helper T cells (TFH). The protein has been shown to bind PVR with high affinity; this binding is thought to assist interactions between TFH and dendritic cells to regulate T cell dependent B cell responses.[provided by RefSeq, Sep 2009]
TIMD4	chr5	156919282	156963255	-	ENSG00000145850.8	protein_coding	SMUCKLER|TIM4	5q33.3	T cell immunoglobulin and mucin domain containing 4	Biased expression in lymph node (RPKM 8.4), testis (RPKM 2.6) and 5 other tissues
TIMELESS	chr12	56416373	56449403	-	ENSG00000111602.11	protein_coding	TIM|TIM1|hTIM	12q13.3	timeless circadian regulator	The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. [provided by RefSeq, Feb 2014]
TIMM10	chr11	57528463	57530803	-	ENSG00000134809.8	protein_coding	TIM10|TIM10A|TIMM10A	11q12.1	translocase of inner mitochondrial membrane 10	The mitochondrial protein encoded by this gene belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane, functioning as intermembrane space chaperones for the highly insoluble carrier proteins. [provided by RefSeq, Nov 2011]
TIMM10B	chr11	6481447	6484679	+	ENSG00000132286.11	protein_coding	FXC1|TIM10B|Tim9b	11p15.4	translocase of inner mitochondrial membrane 10B	FXC1, or TIMM10B, belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004]
TIMM13	chr19	2425624	2427894	-	ENSG00000099800.7	protein_coding	TIM13|TIM13B|TIMM13A|TIMM13B|ppv1	19p13.3	translocase of inner mitochondrial membrane 13	This gene encodes a member of the evolutionarily conserved TIMM (translocase of inner mitochondrial membrane) family of proteins that function as chaperones in the import of proteins from the cytoplasm into the mitochondrial inner membrane. Proteins of this family play a role in collecting substrate proteins from the translocase of the outer mitochondrial membrane (TOM) complex and delivering them to either the sorting and assembly machinery in the outer mitochondrial membrane (SAM) complex or the TIMM22 complex in the inner mitochondrial membrane. The encoded protein and the translocase of mitochondrial inner membrane 8a protein form a 70 kDa complex in the intermembrane space. [provided by RefSeq, Jul 2013]
TIMM17A	chr1	201955491	201970661	+	ENSG00000134375.10	protein_coding	TIM17|TIM17A	1q32.1	translocase of inner mitochondrial membrane 17A	Ubiquitous expression in adrenal (RPKM 27.6), heart (RPKM 27.5) and 25 other tissues
TIMM22	chr17	997117	1003671	+	ENSG00000177370.4	protein_coding	COXPD43|TEX4|TIM22	17p13.3	translocase of inner mitochondrial membrane 22	Multipass transmembrane proteins are brought into mitochondria and inserted into the mitochondrial inner membrane by way of the TIM22 complex. This complex has six subunits and is a twin-pore translocase. The protein encoded by this gene is a subunit of TIM22 and represents the voltage-activated and signal-gated channel. [provided by RefSeq, Jul 2016]
TIMM23	chr10	45972449	46003734	+	ENSG00000265354.3	protein_coding	TIM23	10q11.22	translocase of inner mitochondrial membrane 23	The protein encoded by this gene is part of a complex located in the inner mitochondrial membrane that mediates the transport of transit peptide-containing proteins across the membrane. Multiple transcript variants, one protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jul 2012]
TIMM23B	chr10	49942033	49974850	+	ENSG00000204152.10	protein_coding	-	10q11.23	translocase of inner mitochondrial membrane 23 homolog B	-
TIMM29	chr19	10928733	10933535	+	ENSG00000142444.6	protein_coding	C19orf52|TIM29	19p13.2	translocase of inner mitochondrial membrane 29	Ubiquitous expression in kidney (RPKM 4.3), testis (RPKM 4.3) and 25 other tissues
TIMM44	chr19	7926718	7943920	-	ENSG00000104980.7	protein_coding	TIM44	19p13.2	translocase of inner mitochondrial membrane 44	This gene encodes a peripheral membrane protein associated with the mitochondrial inner membrane translocase, which functions in the import of proteins across the mitochondrial inner membrane and into the mitochondrial matrix. The encoded protein mediates binding of mitochondrial heat shock protein 70 to the translocase of inner mitochondrial membrane 23 (TIM23) complex. Expression of this gene is upregulated in kidney in a mouse model of diabetes. A mutation in this gene is associated with familial oncocytic thyroid carcinoma. [provided by RefSeq, Jul 2016]
TIMM50	chr19	39480412	39493785	+	ENSG00000105197.10	protein_coding	MGCA9|TIM50|TIM50L	19q13.2	translocase of inner mitochondrial membrane 50	This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the mitochondrial inner membrane and matrix. This protein may also play a role in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis. [provided by RefSeq, Jul 2016]
TIMM8AP1	chr2	162077357	162077651	-	ENSG00000231445.1	processed_pseudogene	DDPP|TIMM8AP	2q24.2	translocase of inner mitochondrial membrane 8A pseudogene 1	-
TIMM8B	chr11	112084800	112086798	-	ENSG00000150779.11	protein_coding	DDP2|TIM8B	11q23.1	translocase of inner mitochondrial membrane 8 homolog B	This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the intermembrane space of the mitochondrion. When formed into complexes, these proteins guide membrane-spanning proteins across the mitochondrial intermembrane space before they are added into the mitochondrial inner membrane. This gene is adjacent to succinate dehydrogenase, subunit D (SDHD), in which mutations have been found in affected members of families with hereditary paraganglioma.[provided by RefSeq, Aug 2009]
TIMM9	chr14	58408494	58427614	-	ENSG00000100575.13	protein_coding	TIM9|TIM9A	14q23.1	translocase of inner mitochondrial membrane 9	TIMM9 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004]
TIMM9P1	chr10	74344550	74344805	-	ENSG00000236900.1	processed_pseudogene	-	10q22.2	TIMM9 pseudogene 1	-
TIMMDC1	chr3	119498532	119525090	+	ENSG00000113845.9	protein_coding	C3orf1|MC1DN31	3q13.33	translocase of inner mitochondrial membrane domain containing 1	Ubiquitous expression in heart (RPKM 43.9), thyroid (RPKM 31.3) and 25 other tissues
TIMP2	chr17	78852977	78925387	-	ENSG00000035862.12	protein_coding	CSC-21K|DDC8	17q25.3	TIMP metallopeptidase inhibitor 2	This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. In addition to an inhibitory role against metalloproteinases, the encoded protein has a unique role among TIMP family members in its ability to directly suppress the proliferation of endothelial cells. As a result, the encoded protein may be critical to the maintenance of tissue homeostasis by suppressing the proliferation of quiescent tissues in response to angiogenic factors, and by inhibiting protease activity in tissues undergoing remodelling of the extracellular matrix. [provided by RefSeq, Jul 2008]
TIMP3	chr22	32801701	32863043	+	ENSG00000100234.11	protein_coding	HSMRK222|K222|K222TA2|SFD	22q12.3	TIMP metallopeptidase inhibitor 3	This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsbys fundus dystrophy. [provided by RefSeq, Jul 2008]
TIMP4	chr3	12153051	12159351	-	ENSG00000157150.4	protein_coding	TIMP-4	3p25.2	TIMP metallopeptidase inhibitor 4	This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. The secreted, netrin domain-containing protein encoded by this gene is involved in regulation of platelet aggregation and recruitment and may play role in hormonal regulation and endometrial tissue remodeling. [provided by RefSeq, Jul 2008]
TINAGL1	chr1	31576485	31587686	+	ENSG00000142910.15	protein_coding	ARG1|LCN7|LIECG3|TINAGRP	1p35.2	tubulointerstitial nephritis antigen like 1	The protein encoded by this gene is similar in sequence to tubulointerstitial nephritis antigen, a secreted glycoprotein that is recognized by antibodies in some types of immune-related tubulointerstitial nephritis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
TINF2	chr14	24239643	24242674	-	ENSG00000092330.15	protein_coding	DKCA3|TIN2	14q12	TERF1 interacting nuclear factor 2	This gene encodes one of the proteins of the shelterin, or telosome, complex which protects telomeres by allowing the cell to distinguish between telomeres and regions of DNA damage. The protein encoded by this gene is a critical part of shelterin; it interacts with the three DNA-binding proteins of the shelterin complex, and it is important for assembly of the complex. Mutations in this gene cause dyskeratosis congenita (DKC), an inherited bone marrow failure syndrome. [provided by RefSeq, Mar 2010]
TIPARP	chr3	156673235	156706770	+	ENSG00000163659.12	protein_coding	ARTD14|PARP7|pART14	3q25.31	TCDD inducible poly(ADP-ribose) polymerase	This gene encodes a member of the poly(ADP-ribose) polymerase superfamily. Studies of the mouse ortholog have shown that the encoded protein catalyzes histone poly(ADP-ribosyl)ation and may be involved in T-cell function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
TIPARP-AS1	chr3	156671862	156674378	-	ENSG00000243926.1	antisense	-	3q25.31	TIPARP antisense RNA 1	-
TIPIN	chr15	66336206	66386746	-	ENSG00000075131.9	protein_coding	-	15q22.31	TIMELESS interacting protein	Broad expression in testis (RPKM 3.8), lymph node (RPKM 1.8) and 24 other tissues
TIRAP	chr11	126283065	126298845	+	ENSG00000150455.13	protein_coding	BACTS1|Mal|MyD88-2|wyatt	11q24.2	TIR domain containing adaptor protein	The innate immune system recognizes microbial pathogens through Toll-like receptors (TLRs), which identify pathogen-associated molecular patterns. Different TLRs recognize different pathogen-associated molecular patterns and all TLRs have a Toll-interleukin 1 receptor (TIR) domain, which is responsible for signal transduction. The protein encoded by this gene is a TIR adaptor protein involved in the TLR4 signaling pathway of the immune system. It activates NF-kappa-B, MAPK1, MAPK3 and JNK, which then results in cytokine secretion and the inflammatory response. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
TJAP1	chr6	43477523	43506556	+	ENSG00000137221.14	protein_coding	PILT|TJP4	6p21.1	tight junction associated protein 1	This gene encodes a tight junction-associated protein. Incorporation of the encoded protein into tight junctions occurs at a late stage of formation of the junctions. The encoded protein localizes to the Golgi and may function in vesicle trafficking. Alternatively spliced transcript variants have been described. A related pseudogene exists on the X chromosome. [provided by RefSeq, Mar 2009]
TJP2	chr9	69121264	69255208	+	ENSG00000119139.17	protein_coding	C9DUPq21.11|DFNA51|DUP9q21.11|FHCA1|PFIC4|X104|ZO2	9q21.11	tight junction protein 2	This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
TJP3	chr19	3708109	3750813	+	ENSG00000105289.14	protein_coding	ZO-3|ZO3	19p13.3	tight junction protein 3	The protein encoded by this gene is a member of the membrane-associated guanylate kinase-like (MAGUK) protein family which is characterized by members having multiple PDZ domains, a single SH3 domain, and a single guanylate kinase-like (GUK)-domain. In addition, members of the zonula occludens protein subfamily have an acidic domain, a basic arginine-rich region, and a proline-rich domain. The protein encoded by this gene plays a role in the linkage between the actin cytoskeleton and tight-junctions and also sequesters cyclin D1 at tight junctions during mitosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene has a partial pseudogene on chromosome 1. [provided by RefSeq, May 2012]
TK1	chr17	78174075	78187233	-	ENSG00000167900.11	protein_coding	TK2	17q25.3	thymidine kinase 1	The protein encoded by this gene is a cytosolic enzyme that catalyzes the addition of a gamma-phosphate group to thymidine. This creates dTMP and is the first step in the biosynthesis of dTTP, which is one component required for DNA replication. The encoded protein, whose levels fluctuate depending on the cell cycle stage, can act as a low activity dimer or a high activity tetramer. High levels of this protein have been used as a biomarker for diagnosing and categorizing many types of cancers. [provided by RefSeq, Oct 2016]
TK2	chr16	66508003	66552544	-	ENSG00000166548.15	protein_coding	MTDPS2|MTTK|PEOB3|SCA31	16q21	thymidine kinase 2	This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012]
TKFC	chr11	61333210	61353295	+	ENSG00000149476.15	protein_coding	DAK|NET45|TKFCD	11q12.2	triokinase and FMN cyclase	This gene is a member of the family of dihydroxyacetone kinases, which have a protein structure distinct from other kinases. The product of this gene phosphorylates dihydroxyacetone, and also catalyzes the formation of riboflavin 4,5-phosphate (aka cyclin FMN) from FAD. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2017]
TKT	chr3	53224707	53256052	-	ENSG00000163931.15	protein_coding	HEL-S-48|HEL107|SDDHD|TK|TKT1	3p21.1	transketolase	This gene encodes a thiamine-dependent enzyme which plays a role in the channeling of excess sugar phosphates to glycolysis in the pentose phosphate pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]
TKTL1	chrX	154295671	154330350	+	ENSG00000007350.16	protein_coding	TKR|TKT2	Xq28	transketolase like 1	The protein encoded by this gene is a transketolase that acts as a homodimer and catalyzes the conversion of sedoheptulose 7-phosphate and D-glyceraldehyde 3-phosphate to D-ribose 5-phosphate and D-xylulose 5-phosphate. This reaction links the pentose phosphate pathway with the glycolytic pathway. Variations in this gene may be the cause of Wernicke-Korsakoff syndrome. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
TLCD1	chr17	28724348	28727935	-	ENSG00000160606.10	protein_coding	-	17q11.2	TLC domain containing 1	-
TLCD2	chr17	1702790	1710438	-	ENSG00000185561.9	protein_coding	-	17p13.3	TLC domain containing 2	-
TLCD3A	chr17	 732596	742968	+	ENSG00000167695	protein-coding	CT120|FAM57A	17p13.3	TLC domain containing 3A	The protein encoded by this gene is a membrane-associated protein that promotes lung carcinogenesis. The encoded protein may be involved in amino acid transport and glutathione metabolism since it can interact with a solute carrier family member (SLC3A2) and an isoform of gamma-glutamyltranspeptidase-like 3. An alternatively spliced variant encoding a protein that lacks a 32 aa internal segment showed the opposite effect, inhibiting lung cancer cell growth. Knockdown of this gene also inhibited lung carcinogenesis and tumor cell growth. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
TLCD3B	chr16	 30024427	30053040	-	ENSG00000149926	protein-coding	CORD22|FAM57B|FP1188	16p11.2	TLC domain containing 3B	This gene encodes a transmembrane protein, which may be a likely target of peroxisome proliferator-activated receptor gamma (PPAR-gamma). The product of the orthologous gene in mouse is related to obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
TLCD4	chr1	 95092517	95197607	+	ENSG00000152078	protein-coding	TMEM56	1p21.3	TLC domain containing 4	Broad expression in liver (RPKM 27.2), heart (RPKM 9.3) and 19 other tissues
TLCD5	chr11	 120325299	120333686	+	ENSG00000181264	protein-coding	TMEM136	11q23.3	TLC domain containing 5	Broad expression in adrenal (RPKM 4.7), brain (RPKM 4.1) and 21 other tissues
TLDC2	chr20	36876121	36894235	+	ENSG00000101342.9	protein_coding	C20orf118	20q11.23	TBC/LysM-associated domain containing 2	Ubiquitous expression in appendix (RPKM 10.6), small intestine (RPKM 8.5) and 25 other tissues
TLE3	chr15	70047790	70098176	-	ENSG00000140332.15	protein_coding	ESG|ESG3|GRG3|HsT18976	15q23	TLE family member 3, transcriptional corepressor	This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]
TLE4	chr9	79571773	79726882	+	ENSG00000106829.18	protein_coding	BCE-1|BCE1|E(spI)|E(spl)|ESG|ESG4|GRG4|Grg-4	9q21.31	TLE family member 4, transcriptional corepressor	Broad expression in testis (RPKM 39.3), bone marrow (RPKM 12.0) and 20 other tissues
TLE6	chr19	2977446	2995184	+	ENSG00000104953.19	protein_coding	GRG6|PREMBL	19p13.3	TLE family member 6, subcortical maternal complex member	This gene encodes a member of the Groucho/ transducin-like Enhancer of split family of transcriptional co-repressors. The encoded protein is a component of the mammalian subcortical maternal complex, which is required for preimplantation development. In mouse, knock out of this gene results in cleavage-stage embryonic arrest resulting from defective cytoplasmic F-actin meshwork formation and asymmetric cell division. In human, an allelic variant in this gene is associated with preimplantation embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
TLK1	chr2	170990823	171231314	-	ENSG00000198586.13	protein_coding	PKU-beta	2q31.1	tousled like kinase 1	The protein encoded by this gene is a serine/threonine kinase that may be involved in the regulation of chromatin assembly. The encoded protein is only active when it is phosphorylated, and this phosphorylation is cell cycle-dependent, with the maximal activity of this protein coming during S phase. The catalytic activity of this protein is diminished by DNA damage and by blockage of DNA replication. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
TLK2	chr17	62458658	62615481	+	ENSG00000146872.17	protein_coding	HsHPK|MRD57|PKU-ALPHA	17q23.2	tousled like kinase 2	This gene encodes a nuclear serine/threonine kinase that was first identified in Arabidopsis. The encoded protein is thought to function in the regulation of chromatin assembly in the S phase of the cell cycle by regulating the levels of a histone H3/H4 chaperone. This protein is associated with double-strand break repair of DNA damage caused by radiation. Pseudogenes of this gene are present on chromosomes 10 and 17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
TLN1	chr9	35696948	35732395	-	ENSG00000137076.20	protein_coding	ILWEQ|TLN|talin-1	9p13.3	talin 1	This gene encodes a cytoskeletal protein that is concentrated in areas of cell-substratum and cell-cell contacts. The encoded protein plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. It codistributes with integrins in the cell surface membrane in order to assist in the attachment of adherent cells to extracellular matrices and of lymphocytes to other cells. The N-terminus of this protein contains elements for localization to cell-extracellular matrix junctions. The C-terminus contains binding sites for proteins such as beta-1-integrin, actin, and vinculin. [provided by RefSeq, Feb 2009]
TLN2	chr15	62390526	62844631	+	ENSG00000171914.16	protein_coding	ILWEQ	15q22.2	talin 2	This gene encodes a protein related to talin 1, a cytoskeletal protein that plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. This protein has a different pattern of expression compared to talin 1 but, like talin 1, is thought to associate with unique transmembrane receptors to form novel linkages between extracellular matrices and the actin cytoskeleton. [provided by RefSeq, Jul 2008]
TLNRD1	chr15	 81000923	81005788	+	ENSG00000140406	protein-coding	MESDC1	15q25.1	talin rod domain containing 1	This gene encodes a protein that is regulated by micro RNA MiR-574-3, and is thought to have an oncogenic function in human bladder cancer. A similar gene in mouse is located in a chromosomal region critical for differentiation of mesoderm, which affects embryo patterning and the formation of heart, muscle, blood, skeleton and the urogenital system. The mouse gene is expressed in early development, and in the adult. [provided by RefSeq, Nov 2016]
TLR1	chr4	38790677	38856817	-	ENSG00000174125.7	protein_coding	CD281|TIL|TIL. LPRS5|rsc786	4p14	toll like receptor 1	The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is ubiquitously expressed, and at higher levels than other TLR genes. Different length transcripts presumably resulting from use of alternative polyadenylation site, and/or from alternative splicing, have been noted for this gene. [provided by RefSeq, Jul 2008]
TLR10	chr4	38772239	38782990	-	ENSG00000174123.10	protein_coding	CD290	4p14	toll like receptor 10	The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is most highly expressed in lymphoid tissues such as spleen, lymph node, thymus, and tonsil. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2010]
TLR2	chr4	153701500	153705699	+	ENSG00000137462.6	protein_coding	CD282|TIL4	4q31.3	toll like receptor 2	The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. This protein is a cell-surface protein that can form heterodimers with other TLR family members to recognize conserved molecules derived from microorganisms known as pathogen-associated molecular patterns (PAMPs). Activation of TLRs by PAMPs leads to an up-regulation of signaling pathways to modulate the hosts inflammatory response. This gene is also thought to promote apoptosis in response to bacterial lipoproteins. This gene has been implicated in the pathogenesis of several autoimmune diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
TLR3	chr4	186069152	186088069	+	ENSG00000164342.12	protein_coding	CD283|IIAE2|IMD83	4q35.1	toll like receptor 3	The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor is most abundantly expressed in placenta and pancreas, and is restricted to the dendritic subpopulation of the leukocytes. It recognizes dsRNA associated with viral infection, and induces the activation of NF-kappaB and the production of type I interferons. It thus plays a role in host defense against multiple viruses. [provided by RefSeq, Jul 2021]
TLR4	chr9	117704332	117716871	+	ENSG00000136869.13	protein_coding	ARMD10|CD284|TLR-4|TOLL	9q33.1	toll like receptor 4	The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. In silico studies have found a particularly strong binding of surface TLR4 with the spike protein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the causative agent of Coronavirus disease-2019 (COVID-19). This receptor has also been implicated in signal transduction events induced by lipopolysaccharide (LPS) found in most gram-negative bacteria. Mutations in this gene have been associated with differences in LPS responsiveness, and with susceptibility to age-related macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020]
TLR5	chr1	223109406	223143282	-	ENSG00000187554.11	protein_coding	MELIOS|SLE1|SLEB1|TIL3	1q41	toll like receptor 5	This gene encodes a member of the toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immune responses. These receptors recognize distinct pathogen-associated molecular patterns that are expressed on infectious agents. The protein encoded by this gene recognizes bacterial flagellin, the principal component of bacterial flagella and a virulence factor. The activation of this receptor mobilizes the nuclear factor NF-kappaB, which in turn activates a host of inflammatory-related target genes. Mutations in this gene have been associated with both resistance and susceptibility to systemic lupus erythematosus, and susceptibility to Legionnaire disease.[provided by RefSeq, Dec 2009]
TLR6	chr4	38823715	38856817	-	ENSG00000174130.12	protein_coding	CD286	4p14	toll like receptor 6	The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This receptor functionally interacts with toll-like receptor 2 to mediate cellular response to bacterial lipoproteins. A Ser249Pro polymorphism in the extracellular domain of the encoded protein may be associated with an increased of asthma is some populations.[provided by RefSeq, Jan 2011]
TLR7	chrX	12867083	12890380	+	ENSG00000196664.4	protein_coding	IMD74|TLR7-like	Xp22.2	toll like receptor 7	The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. The human TLR family comprises 11 members. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. For the recognition of structural components in foreign microorganisms, the various TLRs exhibit different patterns of expression as well; in this way for example, TLR-3, -7, and -8 are essential in the recognition of single-stranded RNA viruses. TLR7 senses single-stranded RNA oligonucleotides containing guanosine- and uridine-rich sequences from RNA viruses, a recognition occuring in the endosomes of plasmacytoid dendritic cells and B cells. This gene is predominantly expressed in lung, placenta, and spleen, and is phylogenetically related and lies in close proximity to another family member, TLR8, on chromosome X. [provided by RefSeq, Aug 2020]
TLR9	chr3	52221080	52226163	-	ENSG00000239732.3	protein_coding	CD289	3p21.2	toll like receptor 9	The protein encoded by this gene is a member of the Toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. Studies in mice and human indicate that this receptor mediates cellular response to unmethylated CpG dinucleotides in bacterial DNA to mount an innate immune response. [provided by RefSeq, Aug 2017]
TLX1NB	chr10	101089321	101131126	-	ENSG00000236311.6	processed_transcript	APT-B7|TD1|TDI	10q24.31	TLX1 neighbor	Low expression observed in reference dataset
TM2D1	chr1	61681046	61725423	-	ENSG00000162604.12	protein_coding	BBP	1p31.3	TM2 domain containing 1	The protein encoded by this gene is a beta-amyloid peptide-binding protein. It contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily and known to be important in heterotrimeric G protein activation. Beta-amyloid peptide has been established to be a causative factor in neuron death and the consequent diminution of cognitive abilities observed in Alzheimers disease. This protein may be a target of neurotoxic beta-amyloid peptide, and may mediate cellular vulnerability to beta-amyloid peptide toxicity through a G protein-regulated program of cell death. Several transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]
TM2D2	chr8	38988808	38996824	-	ENSG00000169490.16	protein_coding	BLP1	8p11.22	TM2 domain containing 2	The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. This gene has multiple alternatively spliced transcript variants which encode two different isoforms. [provided by RefSeq, Jul 2008]
TM2D3	chr15	101621444	101652391	-	ENSG00000184277.12	protein_coding	BLP2	15q26.3	TM2 domain containing 3	The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. Several alternatively spliced transcript variants of this gene are described but the full length nature of some variants has not been determined. Multiple polyadenylation sites have been found in this gene. [provided by RefSeq, Jul 2008]
TM4SF1	chr3	149369022	149377865	-	ENSG00000169908.11	protein_coding	H-L6|L6|M3S1|TAAL6	3q25.1	transmembrane 4 L six family member 1	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface antigen and is highly expressed in different carcinomas. [provided by RefSeq, Jul 2008]
TM4SF1-AS1	chr3	149377778	149386583	+	ENSG00000240541.2	antisense	-	3q25.1	TM4SF1 antisense RNA 1	-
TM4SF19	chr3	196319342	196338503	-	ENSG00000145107.15	protein_coding	OCTM4	3q29	transmembrane 4 L six family member 19	The protein encoded by this gene is a member of the four-transmembrane L6 superfamily. Members of this family function in various cellular processes including cell proliferation, motility, and adhesion via their interactions with integrins. In human brain tissue, this gene is expressed at high levels in the parietal lobe, occipital lobe, hippocampus, pons, white matter, corpus callosum, and cerebellum. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]
TM4SF19-AS1	chr3	196318330	196325570	+	ENSG00000235897.1	antisense	-	3q29	TM4SF19 antisense RNA 1	-
TM4SF20	chr2	227362156	227381995	-	ENSG00000168955.3	protein_coding	PRO994|SLI5|TCCE518	2q36.3	transmembrane 4 L six family member 20	The protein encoded by this gene is a member of the four-transmembrane L6 superfamily. Members of this family function in various cellular processes including cell proliferation, motility, and adhesion via their interactions with integrins. In human brain tissue, this gene is expressed at high levels in the parietal lobe, occipital lobe, hippocampus, pons, white matter, corpus callosum, and cerebellum. Knockout of the homologous gene in mouse results in a neurobehavioral phenotype with suggested enhanced motor coordination. A deletion mutation in the human gene is associated with specific language impairment-5. [provided by RefSeq, Jul 2016]
TM4SF4	chr3	149473974	149503281	+	ENSG00000169903.6	protein_coding	ILTMP|il-TMP	3q25.1	transmembrane 4 L six family member 4	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that can regulate cell proliferation.[provided by RefSeq, Mar 2011]
TM4SF5	chr17	4771884	4783213	+	ENSG00000142484.6	protein_coding	-	17p13.2	transmembrane 4 L six family member 5	Biased expression in duodenum (RPKM 71.1), small intestine (RPKM 65.8) and 4 other tissues
TM6SF1	chr15	83107407	83144854	+	ENSG00000136404.15	protein_coding	-	15q25.2	transmembrane 6 superfamily member 1	-
TM6SF2	chr19	19264364	19273391	-	ENSG00000213996.12	protein_coding	-	19p13.11	transmembrane 6 superfamily member 2	-
TM7SF2	chr11	65111845	65116384	+	ENSG00000149809.14	protein_coding	ANG1|C14SR|DHCR14A|NET47	11q13.1	transmembrane 7 superfamily member 2	Broad expression in adrenal (RPKM 80.1), fat (RPKM 50.5) and 20 other tissues
TM7SF3	chr12	26973195	27014434	-	ENSG00000064115.10	protein_coding	-	12p11.23	transmembrane 7 superfamily member 3	-
TM9SF2	chr13	99501417	99564006	+	ENSG00000125304.8	protein_coding	P76	13q32.3	transmembrane 9 superfamily member 2	This gene encodes a member of the transmembrane 9 superfamily. The encoded 76 kDa protein localizes to early endosomes in human cells. The encoded protein possesses a conserved and highly hydrophobic C-terminal domain which contains nine transmembrane domains. The protein may play a role in small molecule transport or act as an ion channel. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Oct 2012]
TM9SF3	chr10	96518109	96587452	-	ENSG00000077147.14	protein_coding	EP70-P-iso|SMBP	10q24.1	transmembrane 9 superfamily member 3	Ubiquitous expression in stomach (RPKM 69.3), colon (RPKM 62.0) and 25 other tissues
TM9SF4	chr20	32109506	32167258	+	ENSG00000101337.15	protein_coding	dJ836N17.2	20q11.21	transmembrane 9 superfamily member 4	Ubiquitous expression in placenta (RPKM 20.7), brain (RPKM 16.4) and 25 other tissues
TMA7	chr3	48440257	48444208	+	ENSG00000232112.3	protein_coding	CCDC72|HSPC016	3p21.31	translation machinery associated 7 homolog	Ubiquitous expression in colon (RPKM 126.7), bone marrow (RPKM 115.6) and 25 other tissues
TMBIM1	chr2	218274192	218292586	-	ENSG00000135926.14	protein_coding	LFG3|MST100|MSTP100|PP1201|RECS1	2q35	transmembrane BAX inhibitor motif containing 1	Ubiquitous expression in esophagus (RPKM 69.4), fat (RPKM 68.5) and 25 other tissues
TMBIM4	chr12	66135846	66170072	-	ENSG00000155957.17	protein_coding	CGI-119|GAAP|LFG4|S1R|ZPRO	12q14.3	transmembrane BAX inhibitor motif containing 4	Ubiquitous expression in thyroid (RPKM 40.4), testis (RPKM 37.8) and 25 other tissues
TMBIM6	chr12	49707725	49764934	+	ENSG00000139644.12	protein_coding	BAXI1|BI-1|TEGT	12q13.12	transmembrane BAX inhibitor motif containing 6	Ubiquitous expression in kidney (RPKM 392.9), liver (RPKM 352.7) and 25 other tissues
TMC1	chr9	72521801	72836351	+	ENSG00000165091.15	protein_coding	DFNA36|DFNB11|DFNB7	9q21.13	transmembrane channel like 1	This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008]
TMC3	chr15	81331217	81374213	-	ENSG00000188869.12	protein_coding	-	15q25.1	transmembrane channel like 3	-
TMC4	chr19	54160108	54173250	-	ENSG00000167608.11	protein_coding	-	19q13.42	transmembrane channel like 4	Broad expression in duodenum (RPKM 27.9), colon (RPKM 25.4) and 14 other tissues
TMC5	chr16	19410496	19499113	+	ENSG00000103534.16	protein_coding	-	16p12.3	transmembrane channel like 5	-
TMC6	chr17	78110458	78132407	-	ENSG00000141524.15	protein_coding	EV1|EVER1|EVIN1|LAK-4P|TNRC6C-AS1|lnc	17q25.3	transmembrane channel like 6	Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]
TMC7	chr16	18983934	19063942	+	ENSG00000170537.12	protein_coding	-	16p12.3	transmembrane channel like 7	-
TMC8	chr17	78130770	78142968	+	ENSG00000167895.14	protein_coding	EV2|EVER2|EVIN2	17q25.3	transmembrane channel like 8	Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 8 predicted transmembrane domains and 3 leucine zipper motifs. [provided by RefSeq, Jul 2008]
TMCC1	chr3	129647792	129893576	-	ENSG00000172765.16	protein_coding	-	3q22.1	transmembrane and coiled-coil domain family 1	-
TMCC1-DT	chr3	 129893871	129908912	+	ENSG00000271270	ncRNA	TMCC1-AS1	3q22.1	TMCC1 divergent transcript	-
TMCC2	chr1	205228176	205273343	+	ENSG00000133069.15	protein_coding	HUCEP11	1q32.1	transmembrane and coiled-coil domain family 2	Biased expression in bone marrow (RPKM 19.2), brain (RPKM 7.1) and 4 other tissues
TMCC3	chr12	94567124	94650562	-	ENSG00000057704.12	protein_coding	-	12q22	transmembrane and coiled-coil domain family 3	-
TMCO1	chr1	165724293	165827755	-	ENSG00000143183.16	protein_coding	HP10122|PCIA3|PNAS-136|TMCC4	1q24.1	transmembrane and coiled-coil domains 1	This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and cognitive disability. Mutations at this locus have also been associated with open angle glaucoma blindness. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
TMCO2	chr1	40245947	40251691	+	ENSG00000188800.5	protein_coding	dJ39G22.2	1p34.2	transmembrane and coiled-coil domains 2	Restricted expression toward testis (RPKM 44.1)
TMCO3	chr13	113490995	113554590	+	ENSG00000150403.17	protein_coding	C13orf11	13q34	transmembrane and coiled-coil domains 3	This gene encodes a member of the monovalent cation:proton antiporter 2 (CPA2) family of transporter proteins. Members of this family typically couple the export of monovalent cations, such as potassium or sodium, to the import of protons across cellular membranes. Mutations in this gene have been identified in patients with a rare inherited vision defect, cornea guttata with anterior polar cataract. [provided by RefSeq, Mar 2017]
TMCO4	chr1	19682213	19799945	-	ENSG00000162542.13	protein_coding	-	1p36.13	transmembrane and coiled-coil domains 4	-
TMCO6	chr5	140639427	140645408	+	ENSG00000113119.12	protein_coding	PRO1580	5q31.3	transmembrane and coiled-coil domains 6	Ubiquitous expression in testis (RPKM 7.0), kidney (RPKM 5.4) and 25 other tissues
TMED1	chr19	10832438	10836318	-	ENSG00000099203.6	protein_coding	IL1RL1LG|Il1rl1l|Tp24|p24g1	19p13.2	transmembrane p24 trafficking protein 1	This gene belongs to the TMED (transmembrane emp24 domain-containing) protein family, which is involved in the vesicular trafficking of proteins. The protein encoded by this gene was identified by its interaction with interleukin 1 receptor-like 1 (IL1RL1) and may play a role in innate immunity. This protein lacks any similarity to other interleukin 1 ligands. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
TMED10	chr14	75131470	75176631	-	ENSG00000170348.8	protein_coding	P24(DELTA)|S31I125|S31III125|TMP21|Tmp-21-I|p23|p24d1	14q24.3	transmembrane p24 trafficking protein 10	This gene is a member of the EMP24/GP25L/p24 family and encodes a protein with a GOLD domain. This type I membrane protein is localized to the plasma membrane and golgi cisternae and is involved in vesicular protein trafficking. The protein is also a member of a heteromeric secretase complex and regulates the complexs gamma-secretase activity without affecting its epsilon-secretase activity. Mutations in this gene have been associated with early-onset familial Alzheimers disease. This gene has a pseudogene on chromosome 8. [provided by RefSeq, Jul 2008]
TMED10P2	chr3	128538020	128538631	+	ENSG00000239405.1	processed_pseudogene	-	3q21.3	transmembrane p24 trafficking protein 10 pseudogene 2	-
TMED2	chr12	123584531	123598577	+	ENSG00000086598.10	protein_coding	P24A|RNP24|p24|p24b1|p24beta1	12q24.31	transmembrane p24 trafficking protein 2	Ubiquitous expression in thyroid (RPKM 170.2), colon (RPKM 110.3) and 25 other tissues
TMED4	chr7	44577894	44582287	-	ENSG00000158604.14	protein_coding	ERS25|GMP25iso|HNLF|p24a3|p24alpha3	7p13	transmembrane p24 trafficking protein 4	Ubiquitous expression in thyroid (RPKM 37.8), small intestine (RPKM 27.8) and 25 other tissues
TMED5	chr1	93149742	93180728	-	ENSG00000117500.12	protein_coding	CGI-100|p24g2|p28	1p22.1	transmembrane p24 trafficking protein 5	Ubiquitous expression in kidney (RPKM 22.0), thyroid (RPKM 21.2) and 25 other tissues
TMED6	chr16	69343248	69351809	-	ENSG00000157315.4	protein_coding	PRO34237|SPLL9146|p24g5	16q22.1	transmembrane p24 trafficking protein 6	Biased expression in pancreas (RPKM 31.6), stomach (RPKM 12.4) and 4 other tissues
TMED7	chr5	115613508	115632992	-	ENSG00000134970.13	protein_coding	CGI-109|p24g3|p24gamma3|p27	5q22.3	transmembrane p24 trafficking protein 7	Ubiquitous expression in thyroid (RPKM 58.5), endometrium (RPKM 47.2) and 25 other tissues
TMED8	chr14	77335021	77377109	-	ENSG00000100580.7	protein_coding	FAM15B	14q24.3	transmembrane p24 trafficking protein family member 8	Ubiquitous expression in lymph node (RPKM 7.4), thyroid (RPKM 5.6) and 25 other tissues
TMED9	chr5	177592158	177596124	+	ENSG00000184840.11	protein_coding	GMP25|HSGP25L2G|p24a2|p24alpha2|p25	5q35.3	transmembrane p24 trafficking protein 9	This gene is a member of a family of genes encoding transport proteins located in the endoplasmic reticulum and the Golgi. A similar gene in mouse is the target of microRNA miR-296, which is part of an imprinted cluster. [provided by RefSeq, Jul 2016]
TMEM100	chr17	55719627	55732121	-	ENSG00000166292.11	protein_coding	-	17q22	transmembrane protein 100	-
TMEM101	chr17	44011188	44023946	-	ENSG00000091947.9	protein_coding	-	17q21.31	transmembrane protein 101	-
TMEM102	chr17	7435443	7437679	+	ENSG00000181284.2	protein_coding	CBAP	17p13.1	transmembrane protein 102	Ubiquitous expression in colon (RPKM 3.0), adrenal (RPKM 2.7) and 24 other tissues
TMEM104	chr17	74776483	74839779	+	ENSG00000109066.13	protein_coding	-	17q25.1	transmembrane protein 104	Ubiquitous expression in testis (RPKM 2.7), thyroid (RPKM 2.1) and 25 other tissues
TMEM105	chr17	81311270	81330674	-	ENSG00000185332.6	protein_coding	-	17q25.3	TMEM105 long non-coding RNA	-
TMEM106A	chr17	43211835	43220041	+	ENSG00000184988.8	protein_coding	-	17q21.31	transmembrane protein 106A	-
TMEM106B	chr7	12211241	12243367	+	ENSG00000106460.18	protein_coding	HLD16	7p21.3	transmembrane protein 106B	Ubiquitous expression in thyroid (RPKM 21.7), brain (RPKM 18.1) and 25 other tissues
TMEM106C	chr12	47963569	47968878	+	ENSG00000134291.11	protein_coding	-	12q13.11	transmembrane protein 106C	-
TMEM107	chr17	8173237	8176399	-	ENSG00000179029.14	protein_coding	GRVS638|JBTS29|MKS13|PRO1268	17p13.1	transmembrane protein 107	This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome. [provided by RefSeq, May 2017]
TMEM109	chr11	60913874	60923443	+	ENSG00000110108.9	protein_coding	-	11q12.2	transmembrane protein 109	-
TMEM11	chr17	21197280	21214624	-	ENSG00000178307.9	protein_coding	C17orf35|PM1|PMI	17p11.2	transmembrane protein 11	Ubiquitous expression in fat (RPKM 9.9), bone marrow (RPKM 9.5) and 25 other tissues
TMEM115	chr3	50354749	50359610	-	ENSG00000126062.3	protein_coding	PL6	3p21.31	transmembrane protein 115	Ubiquitous expression in placenta (RPKM 15.3), kidney (RPKM 14.6) and 25 other tissues
TMEM116	chr12	111931282	112013185	-	ENSG00000198270.12	protein_coding	-	12q24.12-q24.13	transmembrane protein 116	-
TMEM119	chr12	108589846	108598320	-	ENSG00000183160.8	protein_coding	OBIF	12q23.3	transmembrane protein 119	Broad expression in gall bladder (RPKM 16.3), lymph node (RPKM 16.2) and 21 other tissues
TMEM120A	chr7	75986837	75994659	-	ENSG00000189077.10	protein_coding	NET29|TMPIT	7q11.23	transmembrane protein 120A	Ubiquitous expression in testis (RPKM 47.7), adrenal (RPKM 45.0) and 25 other tissues
TMEM120B	chr12	121712752	121783001	+	ENSG00000188735.12	protein_coding	-	12q24.31	transmembrane protein 120B	-
TMEM121	chr14	105526603	105530202	+	ENSG00000184986.10	protein_coding	TMEM121A|hole	14q32.33	transmembrane protein 121	Broad expression in brain (RPKM 1.4), spleen (RPKM 0.9) and 17 other tissues
TMEM121B	chr22	 17116297	17121360	-	ENSG00000183307	protein-coding	CECR6	22q11.1	transmembrane protein 121B	Biased expression in brain (RPKM 5.3), prostate (RPKM 2.9) and 6 other tissues
TMEM123	chr11	102396332	102470384	-	ENSG00000152558.14	protein_coding	KCT3|PORIMIN|PORMIN	11q22.2	transmembrane protein 123	This gene encodes a highly glycosylated transmembrane protein with a high content of threonine and serine residues in its extracellular domain, similar to a broadly defined category of proteins termed mucins. Exposure of some cell types to anti-PORIMIN (pro-oncosis receptor inducing membrane injury) antibody, crosslinks this protein on the cell surface and induces a type of cell death termed oncosis. Oncosis is distinct from apoptosis and is characterized by a loss of cell membrane integrity without DNA fragmentation. This gene product is proposed to function as a cell surface receptor that mediates cell death. [provided by RefSeq, Jul 2008]
TMEM125	chr1	43269994	43274002	+	ENSG00000179178.10	protein_coding	-	1p34.2	transmembrane protein 125	-
TMEM126A	chr11	85647967	85656547	+	ENSG00000171202.6	protein_coding	OPA7	11q14.1	transmembrane protein 126A	The protein encoded by this gene is a mitochondrial membrane protein of unknown function. Defects in this gene are a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
TMEM126B	chr11	85628573	85636539	+	ENSG00000171204.12	protein_coding	HT007|MC1DN29	11q14.1	transmembrane protein 126B	This gene encodes a mitochondrial transmembrane protein which is a component of the mitochondrial complex I assembly complex. The encoded protein serves as an assembly factor that is required for formation of the membrane arm of the complex. It interacts with NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 13. Naturally occurring mutations in this gene are associated with isolated complex I deficiency. A pseudogene of this gene has been defined on chromosome 9. [provided by RefSeq, Apr 2017]
TMEM127	chr2	96248516	96265994	-	ENSG00000135956.8	protein_coding	-	2q11.2	transmembrane protein 127	Ubiquitous expression in heart (RPKM 15.7), esophagus (RPKM 13.6) and 25 other tissues
TMEM128	chr4	4235542	4248212	-	ENSG00000132406.11	protein_coding	-	4p16.3	transmembrane protein 128	-
TMEM129	chr4	1715952	1721358	-	ENSG00000168936.10	protein_coding	D4S2561E	4p16.3	transmembrane protein 129, E3 ubiquitin ligase	Ubiquitous expression in kidney (RPKM 11.0), thyroid (RPKM 10.1) and 25 other tissues
TMEM131	chr2	97756333	97995891	-	ENSG00000075568.16	protein_coding	CC28|PRO1048|RW1|YR-23	2q11.2	transmembrane protein 131	Ubiquitous expression in colon (RPKM 14.6), lymph node (RPKM 13.4) and 25 other tissues
TMEM131L	chr4	 153466360	153636711	+	ENSG00000121210	protein-coding	KIAA0922	4q31.3	transmembrane 131 like	Involved in negative regulation of canonical Wnt signaling pathway and negative regulation of immature T cell proliferation in thymus. Located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
TMEM132A	chr11	60924463	60937159	+	ENSG00000006118.14	protein_coding	GBP|HSPA5BP1	11q12.2	transmembrane protein 132A	This gene encodes a protein that is highly similar to the rat Grp78-binding protein (GBP). Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
TMEM132B	chr12	125186836	125662377	+	ENSG00000139364.10	protein_coding	-	12q24.31-q24.32	transmembrane protein 132B	-
TMEM132C	chr12	128267403	128707915	+	ENSG00000181234.9	protein_coding	PPP1R152	12q24.32-q24.33	transmembrane protein 132C	Biased expression in fat (RPKM 20.4), endometrium (RPKM 2.3) and 6 other tissues
TMEM134	chr11	67461710	67469272	-	ENSG00000172663.8	protein_coding	-	11q13.2	transmembrane protein 134	-
TMEM135	chr11	87037844	87323758	+	ENSG00000166575.16	protein_coding	PMP52	11q14.2	transmembrane protein 135	Ubiquitous expression in fat (RPKM 8.2), adrenal (RPKM 4.0) and 24 other tissues
TMEM138	chr11	61362001	61369509	+	ENSG00000149483.11	protein_coding	HSPC196	11q12.2	transmembrane protein 138	This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]
TMEM139	chr7	143279957	143288048	+	ENSG00000178826.10	protein_coding	-	7q34	transmembrane protein 139	-
TMEM140	chr7	135148072	135166215	+	ENSG00000146859.6	protein_coding	-	7q33	transmembrane protein 140	-
TMEM141	chr9	136791355	136793257	+	ENSG00000244187.7	protein_coding	-	9q34.3	transmembrane protein 141	-
TMEM143	chr19	48332356	48364237	-	ENSG00000161558.10	protein_coding	-	19q13.33	transmembrane protein 143	-
TMEM145	chr19	42313325	42325062	+	ENSG00000167619.11	protein_coding	-	19q13.2	transmembrane protein 145	-
TMEM147	chr19	35545595	35547526	+	ENSG00000105677.11	protein_coding	NIFIE14	19q13.12	transmembrane protein 147	Enables ribosome binding activity. Located in endoplasmic reticulum membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]
TMEM147-AS1	chr19	35540738	35546029	-	ENSG00000236144.6	antisense	-	19q13.12	TMEM147 antisense RNA 1	-
TMEM14A	chr6	52671109	52686588	+	ENSG00000096092.5	protein_coding	C6orf73|PTD011	6p12.2	transmembrane protein 14A	Ubiquitous expression in brain (RPKM 28.6), adrenal (RPKM 23.3) and 25 other tissues
TMEM14B	chr6	10747759	10852753	+	ENSG00000137210.13	protein_coding	-	6p24.2	transmembrane protein 14B	-
TMEM14C	chr6	10722915	10731129	+	ENSG00000111843.13	protein_coding	C6orf53|HSPC194|MSTP073|NET26|bA421M1.6	6p24.2	transmembrane protein 14C	Ubiquitous expression in fat (RPKM 65.2), adrenal (RPKM 55.4) and 25 other tissues
TMEM150A	chr2	85598548	85603196	-	ENSG00000168890.13	protein_coding	TM6P1|TMEM150|TTN1	2p11.2	transmembrane protein 150A	Ubiquitous expression in placenta (RPKM 10.3), kidney (RPKM 7.9) and 24 other tissues
TMEM150B	chr19	55312801	55334048	-	ENSG00000180061.9	protein_coding	DRAM3|TMEM224|TTN2	19q13.42	transmembrane protein 150B	This gene encodes a protein that belongs to the DRAM (damage-regulated autophagy modulator) family of membrane-spanning proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
TMEM150C	chr4	82483170	82562357	-	ENSG00000249242.7	protein_coding	TTN3	4q21.22	transmembrane protein 150C	This gene encodes a transmembrane protein component of a mechanosensitve ion channel that is activated by mechanical stimuli in various cell types and confers slowly adapting, mechanically activated currents in dorsal root ganglion neurons. Mechanically activated ion channels are sensors that are critical for hearing, touch, pain, and blood pressure regulation. [provided by RefSeq, Jul 2017]
TMEM151A	chr11	66291870	66296664	+	ENSG00000179292.4	protein_coding	TMEM151	11q13.2	transmembrane protein 151A	Biased expression in brain (RPKM 18.0) and adrenal (RPKM 0.8)
TMEM151B	chr6	44270466	44307506	+	ENSG00000178233.17	protein_coding	C6orf137|TMEM193|bA444E17.5	6p21.1	transmembrane protein 151B	Biased expression in brain (RPKM 16.7), adrenal (RPKM 1.9) and 1 other tissue
TMEM156	chr4	38966744	39032922	-	ENSG00000121895.7	protein_coding	-	4p14	transmembrane protein 156	-
TMEM158	chr3	45224466	45226278	-	ENSG00000249992.1	protein_coding	BBP|RIS1|p40BBP	3p21.31	transmembrane protein 158	Constitutive activation of the Ras pathway triggers an irreversible proliferation arrest reminiscent of replicative senescence. Transcription of this gene is upregulated in response to activation of the Ras pathway, but not under other conditions that induce senescence. The encoded protein is similar to a rat cell surface receptor proposed to function in a neuronal survival pathway. An allelic polymorphism in this gene results in both functional and non-functional (frameshifted) alleles; the reference genome represents the functional allele. [provided by RefSeq, Jul 2015]
TMEM160	chr19	47045907	47048630	-	ENSG00000130748.6	protein_coding	-	19q13.32	transmembrane protein 160	-
TMEM161A	chr19	19119169	19138513	-	ENSG00000064545.14	protein_coding	AROS-29|AROS29	19p13.11	transmembrane protein 161A	Ubiquitous expression in prostate (RPKM 6.2), endometrium (RPKM 5.9) and 25 other tissues
TMEM161B	chr5	88189633	88269476	-	ENSG00000164180.13	protein_coding	FLB3342|PRO1313	5q14.3	transmembrane protein 161B	Ubiquitous expression in testis (RPKM 2.9), thyroid (RPKM 2.5) and 25 other tissues
TMEM161B-DT	chr5	 88268882	88436674	+	ENSG00000247828	ncRNA	TMEM161B-AS1|linc-POLR3G-8	5q14.3	TMEM161B divergent transcript	-
TMEM163	chr2	134455759	134719000	-	ENSG00000152128.13	protein_coding	DC29|SV31	2q21.3	transmembrane protein 163	Broad expression in lung (RPKM 2.2), brain (RPKM 1.9) and 15 other tissues
TMEM165	chr4	55395957	55453397	+	ENSG00000134851.12	protein_coding	CDG2K|FT27|GDT1|SLC64A1|TMPT27|TPARL	4q12	transmembrane protein 165	This gene encodes a predicted transmembrane protein with a perinuclear Golgi-like distribution in fibroblasts. Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation, type IIk. Knockdown of this genes expression causes decreased sialylation in HEK cells and suggests this gene plays a role in terminal Golgi glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
TMEM167A	chr5	83052846	83077863	-	ENSG00000174695.9	protein_coding	TMEM167	5q14.2	transmembrane protein 167A	Ubiquitous expression in adrenal (RPKM 30.5), brain (RPKM 22.8) and 25 other tissues
TMEM167B	chr1	109089803	109096934	+	ENSG00000215717.5	protein_coding	AD-020|C1orf119	1p13.3	transmembrane protein 167B	Ubiquitous expression in thyroid (RPKM 27.7), prostate (RPKM 22.2) and 25 other tissues
TMEM168	chr7	112762382	112790592	-	ENSG00000146802.12	protein_coding	-	7q31.1	transmembrane protein 168	-
TMEM169	chr2	216081866	216102783	+	ENSG00000163449.10	protein_coding	-	2q35	transmembrane protein 169	-
TMEM17	chr2	62500221	62511894	-	ENSG00000186889.9	protein_coding	-	2p15	transmembrane protein 17	-
TMEM170A	chr16	75443054	75465497	-	ENSG00000166822.12	protein_coding	TMEM170	16q23.1	transmembrane protein 170A	Ubiquitous expression in colon (RPKM 6.4), duodenum (RPKM 5.6) and 25 other tissues
TMEM170B	chr6	11538278	11583524	+	ENSG00000205269.5	protein_coding	-	6p24.2	transmembrane protein 170B	-
TMEM171	chr5	73120292	73131817	+	ENSG00000157111.12	protein_coding	PRP2	5q13.2	transmembrane protein 171	Biased expression in colon (RPKM 19.9), thyroid (RPKM 15.7) and 7 other tissues
TMEM174	chr5	73173195	73175143	+	ENSG00000164325.7	protein_coding	-	5q13.2	transmembrane protein 174	Restricted expression toward kidney (RPKM 66.3)
TMEM175	chr4	932387	958656	+	ENSG00000127419.16	protein_coding	hTMEM175	4p16.3	transmembrane protein 175	Ubiquitous expression in spleen (RPKM 10.8), brain (RPKM 6.7) and 25 other tissues
TMEM176A	chr7	150800403	150805120	+	ENSG00000002933.7	protein_coding	GS188|HCA112|MS4B1	7q36.1	transmembrane protein 176A	Broad expression in liver (RPKM 172.7), kidney (RPKM 114.0) and 15 other tissues
TMEM176B	chr7	150791285	150801360	-	ENSG00000106565.17	protein_coding	LR8|MS4B2	7q36.1	transmembrane protein 176B	Broad expression in liver (RPKM 288.9), kidney (RPKM 126.6) and 16 other tissues
TMEM177	chr2	119679167	119686507	+	ENSG00000144120.12	protein_coding	-	2q14.2	transmembrane protein 177	-
TMEM178B	chr7	141074232	141480380	+	ENSG00000261115.5	protein_coding	-	7q34	transmembrane protein 178B	-
TMEM179B	chr11	62787415	62790405	+	ENSG00000185475.10	protein_coding	-	11q12.3	transmembrane protein 179B	-
TMEM18	chr2	667335	677439	-	ENSG00000151353.14	protein_coding	lncND	2p25.3	transmembrane protein 18	Ubiquitous expression in ovary (RPKM 18.2), thyroid (RPKM 13.8) and 25 other tissues
TMEM181	chr6	158536436	158635428	+	ENSG00000146433.8	protein_coding	GPR178|KIAA1423	6q25.3	transmembrane protein 181	The TMEM181 gene encodes a putative G protein-coupled receptor expressed on the cell surface (Carette et al., 2009 [PubMed 19965467]; Wollscheid et al., 2009 [PubMed 19349973]).[supplied by OMIM, Jan 2010]
TMEM182	chr2	102736905	103019900	+	ENSG00000170417.15	protein_coding	-	2q12.1	transmembrane protein 182	-
TMEM183A	chr1	203007386	203024848	+	ENSG00000163444.11	protein_coding	C1orf37	1q32.1	transmembrane protein 183A	Ubiquitous expression in bone marrow (RPKM 33.8), testis (RPKM 23.6) and 25 other tissues
TMEM183AP1	chr6	29577459	29577748	+	ENSG00000227609.2	processed_pseudogene	-	6p22.1	transmembrane protein 183A pseudogene 1	-
TMEM183BP	chr3	 149982269	149983308	-	ENSG00000224831	pseudogene	C1ORF37DUP|C1orf37-DUP|TMEM183B	3q25.1	transmembrane protein 183B, pseudogene	-
TMEM184A	chr7	1542235	1560821	-	ENSG00000164855.15	protein_coding	SDMG1	7p22.3	transmembrane protein 184A	Ubiquitous expression in small intestine (RPKM 9.8), duodenum (RPKM 8.8) and 25 other tissues
TMEM184B	chr22	38219291	38273034	-	ENSG00000198792.12	protein_coding	C22orf5|FM08|HS5O6A|HSPC256	22q13.1	transmembrane protein 184B	Ubiquitous expression in placenta (RPKM 20.3), fat (RPKM 18.2) and 25 other tissues
TMEM184C	chr4	147617383	147672044	+	ENSG00000164168.7	protein_coding	TMEM34	4q31.23	transmembrane protein 184C	Ubiquitous expression in thyroid (RPKM 16.9), adrenal (RPKM 9.0) and 25 other tissues
TMEM185B	chr2	120221278	120223408	-	ENSG00000226479.3	protein_coding	FAM11B	2q14.2	transmembrane protein 185B	-
TMEM190	chr19	55376836	55378244	+	ENSG00000160472.4	protein_coding	MDAC1	19q13.42	transmembrane protein 190	Biased expression in testis (RPKM 4.0), lung (RPKM 3.5) and 1 other tissue
TMEM191A	chr22	20701114	20704606	+	ENSG00000226287.8	transcribed_unprocessed_pseudogene	TMEM191AP	22q11.21	transmembrane protein 191A (pseudogene)	Biased expression in testis (RPKM 14.2), spleen (RPKM 1.0) and 1 other tissue
TMEM191C	chr22	21466423	21471269	+	ENSG00000206140.10	protein_coding	-	22q11.21	transmembrane protein 191C	-
TMEM196	chr7	19719310	19773598	-	ENSG00000173452.13	protein_coding	-	7p21.1	transmembrane protein 196	-
TMEM199	chr17	28357581	28363683	+	ENSG00000244045.12	protein_coding	C17orf32|CDG2P|VMA12|VPH2	17q11.2	transmembrane protein 199	The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) in some human cells. The encoded protein shares some homology with the yeast protein Vma12. Defects in this gene are a cause of congenital disorder of glycosylation, type IIp. [provided by RefSeq, Mar 2016]
TMEM200A	chr6	130365734	130443063	+	ENSG00000164484.11	protein_coding	KIAA1913|TTMA|TTMC	6q23.1	transmembrane protein 200A	Broad expression in endometrium (RPKM 12.2), adrenal (RPKM 5.0) and 16 other tissues
TMEM200B	chr1	29119428	29123935	-	ENSG00000253304.1	protein_coding	TTMB	1p35.3	transmembrane protein 200B	Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
TMEM201	chr1	9588922	9614873	+	ENSG00000188807.12	protein_coding	Ima1|NET5|SAMP1	1p36.22	transmembrane protein 201	Ubiquitous expression in testis (RPKM 3.5), endometrium (RPKM 2.1) and 25 other tissues
TMEM203	chr9	137204082	137205638	-	ENSG00000187713.6	protein_coding	HBEBP1	9q34.3	transmembrane protein 203	-
TMEM204	chr16	1528688	1555580	+	ENSG00000131634.13	protein_coding	C16orf30|CLP24	16p13.3	transmembrane protein 204	C16ORF30 plays a role in cell adhesion and cellular permeability at adherens junctions (Kearsey et al., 2004 [PubMed 15206924]).[supplied by OMIM, Mar 2008]
TMEM205	chr19	11342776	11346518	-	ENSG00000105518.13	protein_coding	UNQ501	19p13.2	transmembrane protein 205	Ubiquitous expression in liver (RPKM 32.8), thyroid (RPKM 28.6) and 25 other tissues
TMEM207	chr3	190428655	190449876	-	ENSG00000198398.2	protein_coding	UNQ846	3q28	transmembrane protein 207	Restricted expression toward kidney (RPKM 5.8)
TMEM208	chr16	67227103	67229278	+	ENSG00000168701.18	protein_coding	HSPC171|hSND2	16q22.1	transmembrane protein 208	This gene encodes a highly conserved protein which is localized in the endoplasmic reticulum (ER). The protein is linked to autophagy and ER stress. Knockdown of this gene increased autophagy and triggered ER stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
TMEM209	chr7	130164715	130207770	-	ENSG00000146842.16	protein_coding	NET31	7q32.2	transmembrane protein 209	Ubiquitous expression in thyroid (RPKM 8.3), testis (RPKM 7.9) and 25 other tissues
TMEM212	chr3	171843349	171938715	+	ENSG00000186329.9	protein_coding	-	3q26.31	transmembrane protein 212	-
TMEM213	chr7	138797952	138838101	+	ENSG00000214128.10	protein_coding	-	7q34	transmembrane protein 213	-
TMEM214	chr2	27032910	27041695	+	ENSG00000119777.18	protein_coding	-	2p23.3	transmembrane protein 214	-
TMEM216	chr11	61391687	61398863	+	ENSG00000187049.9	protein_coding	HSPC244	11q12.2	transmembrane protein 216	This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]
TMEM217	chr6	37212180	37258155	-	ENSG00000172738.11	protein_coding	C6orf128|dJ355M6.2	6p21.2	transmembrane protein 217	Broad expression in testis (RPKM 3.1), adrenal (RPKM 0.9) and 22 other tissues
TMEM218	chr11	125096545	125111763	-	ENSG00000150433.9	protein_coding	JBTS39	11q24.2	transmembrane protein 218	Ubiquitous expression in fat (RPKM 5.9), adrenal (RPKM 3.3) and 25 other tissues
TMEM219	chr16	29940885	29973052	+	ENSG00000149932.16	protein_coding	IGFBP-3R	16p11.2	transmembrane protein 219	Ubiquitous expression in testis (RPKM 42.5), small intestine (RPKM 28.6) and 25 other tissues
TMEM221	chr19	17435509	17448567	-	ENSG00000188051.6	protein_coding	-	19p13.11	transmembrane protein 221	-
TMEM222	chr1	27322145	27336400	+	ENSG00000186501.14	protein_coding	C1orf160|NEDMOSBA	1p36.11	transmembrane protein 222	Ubiquitous expression in thyroid (RPKM 11.2), testis (RPKM 10.1) and 25 other tissues
TMEM223	chr11	62771629	62792021	-	ENSG00000168569.7	protein_coding	-	11q12.3	transmembrane protein 223	-
TMEM225B	chr7	 99598058	99611045	+	ENSG00000244219	protein-coding	GS1-259H13.2	7q22.1	transmembrane protein 225B	Restricted expression toward testis (RPKM 71.2)
TMEM229A	chr7	124030916	124033023	-	ENSG00000234224.2	protein_coding	-	7q31.32	transmembrane protein 229A	-
TMEM229B	chr14	67447084	67533739	-	ENSG00000198133.8	protein_coding	C14orf83	14q24.1	transmembrane protein 229B	Broad expression in duodenum (RPKM 3.7), small intestine (RPKM 3.4) and 24 other tissues
TMEM230	chr20	5068232	5113103	-	ENSG00000089063.14	protein_coding	C20orf30|HSPC274|dJ1116H23.2.1	20p13-p12.3	transmembrane protein 230	This gene encodes a multi-pass transmembrane protein that belongs to the TMEM134/TMEM230 protein family. The encoded protein localizes to secretory and recycling vesicle in the neuron and may be involved in synaptic vesicles trafficking and recycling. Mutations in this gene may be linked to familial Parkinsons disease. [provided by RefSeq, Mar 2017]
TMEM231	chr16	75536744	75556286	-	ENSG00000205084.10	protein_coding	ALYE870|JBTS20|MKS11|PRO1886	16q23.1	transmembrane protein 231	This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
TMEM232	chr5	110289233	110738956	-	ENSG00000186952.14	protein_coding	-	5q22.1	transmembrane protein 232	-
TMEM233	chr12	119593459	119643066	+	ENSG00000224982.3	protein_coding	DSPB2|IFITMD2	12q24.23	transmembrane protein 233	Biased expression in thyroid (RPKM 3.9), brain (RPKM 1.9) and 1 other tissue
TMEM234	chr1	32214472	32222359	-	ENSG00000160055.19	protein_coding	AASL548|C1orf91|PRO1105|RP4-622L5|dJ622L5.7	1p35.2	transmembrane protein 234	Ubiquitous expression in testis (RPKM 5.0), thyroid (RPKM 3.6) and 25 other tissues
TMEM235	chr17	78231310	78240987	+	ENSG00000204278.12	protein_coding	ARGM1	17q25.3	transmembrane protein 235	Restricted expression toward brain (RPKM 1.9)
TMEM236	chr10	17752252	17800868	+	ENSG00000148483.8	protein_coding	FAM23A|FAM23B|bA162I21.2|bA16O1.2	10p12.33	transmembrane protein 236	Note: In the NCBI Build 37.2 reference assembly, TMEM236 (FAM23A) and FAM23B are duplicate genes in close proximity to each other on chromosome 10. In July 2010, the Genome Reference Consortium determined that the region contains a duplication error. The clone on which FAM23B was based (AL928729) will be removed from the reference assembly and only TMEM236 will be present in the assembly. [13 Feb 2013]
TMEM237	chr2	201620184	201643570	-	ENSG00000155755.18	protein_coding	ALS2CR4|JBTS14	2q33.1	transmembrane protein 237	The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
TMEM238	chr19	55379245	55384598	-	ENSG00000233493.3	protein_coding	-	19q13.42	transmembrane protein 238	-
TMEM240	chr1	1535174	1540453	-	ENSG00000205090.8	protein_coding	C1orf70|SCA21	1p36.33	transmembrane protein 240	This gene encodes a transmembrane-domain containing protein found in the brain and cerebellum. Mutations in this gene result in spinocerebellar ataxia 21. [provided by RefSeq, Dec 2014]
TMEM241	chr18	23197144	23437961	-	ENSG00000134490.13	protein_coding	C18orf45|hVVT	18q11.2	transmembrane protein 241	Low expression observed in reference dataset
TMEM244	chr6	129831244	129861547	-	ENSG00000203756.7	protein_coding	C6orf191|bA174C7.4	6q22.33	transmembrane protein 244	Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
TMEM245	chr9	109015152	109119945	-	ENSG00000106771.12	protein_coding	C9orf5|CG-2|CG2	9q31.3	transmembrane protein 245	Ubiquitous expression in thyroid (RPKM 48.4), adrenal (RPKM 29.0) and 25 other tissues
TMEM247	chr2	46429190	46484425	+	ENSG00000187600.12	protein_coding	-	2p21	transmembrane protein 247	-
TMEM248	chr7	66921225	66958551	+	ENSG00000106609.16	protein_coding	C7orf42	7q11.21	transmembrane protein 248	Ubiquitous expression in thyroid (RPKM 30.2), endometrium (RPKM 26.8) and 25 other tissues
TMEM249	chr8	144352219	144354914	-	ENSG00000261587.2	protein_coding	C8ORFK29	8q24.3	transmembrane protein 249	Broad expression in testis (RPKM 4.2), duodenum (RPKM 1.6) and 23 other tissues
TMEM25	chr11	118531041	118547280	+	ENSG00000149582.15	protein_coding	-	11q23.3	transmembrane protein 25	-
TMEM250	chr9	 136107767	136118875	-	ENSG00000238227	protein-coding	C9orf69	9q34.3	transmembrane protein 250	Ubiquitous expression in colon (RPKM 10.3), skin (RPKM 7.9) and 25 other tissues
TMEM253	chr14	21098937	21103724	+	ENSG00000232070.8	protein_coding	C14orf176|C14orf95|NCRNA00220	14q11.2	transmembrane protein 253	Biased expression in duodenum (RPKM 26.0), small intestine (RPKM 24.6) and 2 other tissues
TMEM254	chr10	80078646	80092557	+	ENSG00000133678.13	protein_coding	C10orf57|bA369J21.6	10q22.3	transmembrane protein 254	Ubiquitous expression in skin (RPKM 17.6), prostate (RPKM 13.9) and 25 other tissues
TMEM255B	chr13	113759240	113816995	+	ENSG00000184497.12	protein_coding	FAM70B	13q34	transmembrane protein 255B	Ubiquitous expression in lung (RPKM 1.8), gall bladder (RPKM 1.7) and 24 other tissues
TMEM256	chr17	7402975	7404137	-	ENSG00000205544.3	protein_coding	C17orf61	17p13.1	transmembrane protein 256	Ubiquitous expression in fat (RPKM 45.8), duodenum (RPKM 45.5) and 25 other tissues
TMEM258	chr11	61768501	61792802	-	ENSG00000134825.15	protein_coding	C11orf10|Kud|Kuduk	11q12.2	transmembrane protein 258	Ubiquitous expression in colon (RPKM 77.0), stomach (RPKM 64.2) and 25 other tissues
TMEM259	chr19	1009648	1021179	-	ENSG00000182087.12	protein_coding	ASBABP1|C19orf6|MBRL|MEMBRALIN|R32184_3	19p13.3	transmembrane protein 259	Ubiquitous expression in spleen (RPKM 49.2), fat (RPKM 38.4) and 25 other tissues
TMEM26	chr10	61406643	61453450	-	ENSG00000196932.11	protein_coding	-	10q21.2	transmembrane protein 26	Broad expression in spleen (RPKM 2.6), endometrium (RPKM 1.8) and 17 other tissues
TMEM26-AS1	chr10	61452639	61481956	+	ENSG00000237233.2	antisense	-	10q21.2	TMEM26 antisense RNA 1	-
TMEM262	chr11	65084979	65089375	-	ENSG00000187066.8	protein_coding	-	11q13.1	transmembrane protein 262	Ubiquitous expression in testis (RPKM 7.1), colon (RPKM 5.5) and 25 other tissues
TMEM263	chr12	106955719	106978778	+	ENSG00000151135.9	protein_coding	C12orf23	12q23.3	transmembrane protein 263	Ubiquitous expression in thyroid (RPKM 17.2), placenta (RPKM 16.6) and 25 other tissues
TMEM265	chr16	30740381	30744281	+	ENSG00000281991.1	protein_coding	IFITMD8	16p11.2	transmembrane protein 265	Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
TMEM266	chr15	76059837	76229121	+	ENSG00000169758.12	protein_coding	C15orf27|HVRP1|HsHVRP1|hTMEM266	15q24.2	transmembrane protein 266	Broad expression in placenta (RPKM 1.7), testis (RPKM 1.2) and 14 other tissues
TMEM267	chr5	43444252	43483893	-	ENSG00000151881.14	protein_coding	C5orf28	5p12	transmembrane protein 267	Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
TMEM268	chr9	114611206	114646422	+	ENSG00000157693.14	protein_coding	C9orf91	9q32	transmembrane protein 268	Ubiquitous expression in brain (RPKM 7.4), spleen (RPKM 6.9) and 25 other tissues
TMEM269	chr1	42785007	42816619	+	ENSG00000274386.5	protein_coding	-	1p34.2	transmembrane protein 269	Biased expression in testis (RPKM 1.1), fat (RPKM 0.1) and 2 other tissues
TMEM270	chr7	 73860848	73865890	+	ENSG00000175877	protein-coding	WBSCR28	7q11.23	transmembrane protein 270	Restricted expression toward testis (RPKM 15.2)
TMEM273	chr10	 49154736	49188391	-	ENSG00000204161	protein-coding	C10orf128	10q11.23	transmembrane protein 273	Ubiquitous expression in fat (RPKM 4.4), spleen (RPKM 4.0) and 24 other tissues
TMEM30A	chr6	75252924	75284968	-	ENSG00000112697.15	protein_coding	C6orf67|CDC50A	6q14.1	transmembrane protein 30A	Ubiquitous expression in brain (RPKM 71.6), lung (RPKM 58.3) and 25 other tissues
TMEM30B	chr14	61277370	61281840	-	ENSG00000182107.6	protein_coding	CDC50B	14q23.1	transmembrane protein 30B	Enables aminophospholipid flippase activity. Involved in aminophospholipid transport and positive regulation of protein exit from endoplasmic reticulum. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus; endoplasmic reticulum; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
TMEM30CP	chr3	100185687	100211766	+	ENSG00000235156.5	transcribed_unitary_pseudogene	CDC50C|TMEM30C	3q12.1	transmembrane protein 30C, pseudogene	Low expression observed in reference dataset
TMEM33	chr4	41935120	41960572	+	ENSG00000109133.12	protein_coding	1600019D15Rik|Pom33|SHINC-3|SHINC3	4p13	transmembrane protein 33	Ubiquitous expression in brain (RPKM 8.6), thyroid (RPKM 8.4) and 25 other tissues
TMEM37	chr2	119429901	119438520	+	ENSG00000171227.6	protein_coding	PR|PR1	2q14.2	transmembrane protein 37	Broad expression in kidney (RPKM 36.6), fat (RPKM 26.3) and 17 other tissues
TMEM38A	chr19	16661127	16690029	+	ENSG00000072954.6	protein_coding	TRIC-A|TRICA	19p13.11	transmembrane protein 38A	Broad expression in brain (RPKM 7.4), stomach (RPKM 6.7) and 21 other tissues
TMEM38B	chr9	105694544	105776612	+	ENSG00000095209.11	protein_coding	C9orf87|D4Ertd89e|OI14|TRIC-B|TRICB|bA219P18.1	9q31.2	transmembrane protein 38B	This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis. [provided by RefSeq, Oct 2012]
TMEM39B	chr1	32072031	32102866	+	ENSG00000121775.17	protein_coding	-	1p35.2	transmembrane protein 39B	-
TMEM40	chr3	12733525	12769457	-	ENSG00000088726.15	protein_coding	-	3p25.2	transmembrane protein 40	-
TMEM41A	chr3	185476496	185499057	-	ENSG00000163900.10	protein_coding	2900010K02Rik	3q27.2	transmembrane protein 41A	Ubiquitous expression in small intestine (RPKM 11.1), duodenum (RPKM 11.1) and 25 other tissues
TMEM41B	chr11	9280654	9314780	-	ENSG00000166471.10	protein_coding	-	11p15.4	transmembrane protein 41B	Ubiquitous expression in duodenum (RPKM 11.2), thyroid (RPKM 10.7) and 25 other tissues
TMEM42	chr3	44861869	44865670	+	ENSG00000169964.7	protein_coding	-	3p21.31	transmembrane protein 42	-
TMEM43	chr3	14124940	14143679	+	ENSG00000170876.7	protein_coding	ARVC5|ARVD5|EDMD7|LUMA	3p25.1	transmembrane protein 43	This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]
TMEM45A	chr3	100492619	100577444	+	ENSG00000181458.10	protein_coding	DERP7|DNAPTP4	3q12.2	transmembrane protein 45A	Biased expression in skin (RPKM 215.6), liver (RPKM 25.9) and 2 other tissues
TMEM45B	chr11	129815819	129860003	+	ENSG00000151715.7	protein_coding	-	11q24.3	transmembrane protein 45B	-
TMEM50A	chr1	25337917	25362361	+	ENSG00000183726.10	protein_coding	IFNRC|SMP1	1p36.11	transmembrane protein 50A	This gene is located in the RH gene locus, between the RHD and RHCE genes. The function of its protein product is unknown; however, its sequence has potential transmembrane domains suggesting that it may be an integral membrane protein. Its position between the RH genes suggests that polymorphisms in this gene may be tightly linked to RH haplotypes and may contribute to selective pressure for or against certain RH haplotypes. [provided by RefSeq, Jul 2008]
TMEM50B	chr21	33432485	33480011	-	ENSG00000142188.16	protein_coding	C21orf4|HCVP7TP3	21q22.11	transmembrane protein 50B	Ubiquitous expression in thyroid (RPKM 53.6), gall bladder (RPKM 21.3) and 24 other tissues
TMEM51	chr1	15152532	15220480	+	ENSG00000171729.13	protein_coding	C1orf72	1p36.21	transmembrane protein 51	Ubiquitous expression in urinary bladder (RPKM 10.5), gall bladder (RPKM 9.1) and 24 other tissues
TMEM52	chr1	1917590	1919273	-	ENSG00000178821.12	protein_coding	-	1p36.33	transmembrane protein 52	-
TMEM53	chr1	44635238	44674555	-	ENSG00000126106.13	protein_coding	NET4	1p34.1	transmembrane protein 53	Ubiquitous expression in liver (RPKM 3.6), testis (RPKM 3.6) and 25 other tissues
TMEM54	chr1	32894594	32901438	-	ENSG00000121900.18	protein_coding	BCLP|CAC-1|CAC1	1p35.1	transmembrane protein 54	Broad expression in colon (RPKM 134.2), small intestine (RPKM 52.7) and 15 other tissues
TMEM59	chr1	54026681	54053504	-	ENSG00000116209.11	protein_coding	C1orf8|DCF1|HSPC001|PRO195|UNQ169	1p32.3	transmembrane protein 59	This gene encodes a protein shown to regulate autophagy in response to bacterial infection. This protein may also regulate the retention of amyloid precursor protein (APP) in the Golgi apparatus through its control of APP glycosylation. Overexpression of this protein has been found to promote apoptosis in a glioma cell line. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
TMEM59L	chr19	18607430	18621039	+	ENSG00000105696.8	protein_coding	BSMAP|C19orf4	19p13.11	transmembrane protein 59 like	This gene encodes a predicted type-I membrane glycoprotein. The encoded protein may play a role in functioning of the central nervous system. [provided by RefSeq, Jul 2008]
TMEM60	chr7	77793728	77798580	-	ENSG00000135211.5	protein_coding	C7orf35|DC32	7q11.23	transmembrane protein 60	Ubiquitous expression in testis (RPKM 13.9), thyroid (RPKM 12.6) and 25 other tissues
TMEM61	chr1	54980792	54992293	+	ENSG00000143001.4	protein_coding	-	1p32.3	transmembrane protein 61	-
TMEM62	chr15	43123279	43185146	+	ENSG00000137842.6	protein_coding	-	15q15.2	transmembrane protein 62	-
TMEM63A	chr1	225845536	225882369	-	ENSG00000196187.11	protein_coding	HLD19|KIAA0792	1q42.12	transmembrane protein 63A	Ubiquitous expression in salivary gland (RPKM 15.4), prostate (RPKM 13.6) and 25 other tissues
TMEM63B	chr6	44126914	44155519	+	ENSG00000137216.18	protein_coding	C6orf110	6p21.1	transmembrane protein 63B	Ubiquitous expression in lung (RPKM 21.2), testis (RPKM 16.9) and 25 other tissues
TMEM64	chr8	90621995	90791632	-	ENSG00000180694.13	protein_coding	-	8q21.3	transmembrane protein 64	-
TMEM65	chr8	124306189	124372692	-	ENSG00000164983.7	protein_coding	-	8q24.13	transmembrane protein 65	-
TMEM68	chr8	55696424	55773407	-	ENSG00000167904.14	protein_coding	-	8q12.1	transmembrane protein 68	-
TMEM69	chr1	45687214	45694443	+	ENSG00000159596.6	protein_coding	C1orf154	1p34.1	transmembrane protein 69	Ubiquitous expression in urinary bladder (RPKM 14.3), lymph node (RPKM 13.5) and 25 other tissues
TMEM70	chr8	73972437	73982783	+	ENSG00000175606.10	protein_coding	MC5DN2	8q21.11	transmembrane protein 70	This gene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biogenesis of mitochondrial ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
TMEM71	chr8	132685007	132760712	-	ENSG00000165071.14	protein_coding	-	8q24.22	transmembrane protein 71	Broad expression in heart (RPKM 11.4), bone marrow (RPKM 10.2) and 17 other tissues
TMEM72	chr10	44911200	44937002	+	ENSG00000187783.11	protein_coding	C10orf127|KSP37	10q11.21	transmembrane protein 72	This gene encodes a transmembrane protein which may be expressed specifically in the kidney. [provided by RefSeq, Sep 2016]
TMEM72-AS1	chr10	44811024	44959689	-	ENSG00000224812.2	antisense	-	10q11.21	TMEM72 antisense RNA 1	-
TMEM74	chr8	108606850	108787615	-	ENSG00000164841.4	protein_coding	NET36	8q23.1	transmembrane protein 74	Biased expression in brain (RPKM 1.7), heart (RPKM 0.4) and 6 other tissues
TMEM79	chr1	156282935	156293185	+	ENSG00000163472.18	protein_coding	MATT	1q22	transmembrane protein 79	Biased expression in skin (RPKM 34.9), esophagus (RPKM 32.0) and 6 other tissues
TMEM80	chr11	695428	705028	+	ENSG00000177042.14	protein_coding	-	11p15.5	transmembrane protein 80	-
TMEM81	chr1	205083129	205084460	-	ENSG00000174529.7	protein_coding	HC3107|KVLA2788|UNQ2788	1q32.1	transmembrane protein 81	-
TMEM86A	chr11	18693122	18704785	+	ENSG00000151117.8	protein_coding	-	11p15.1	transmembrane protein 86A	Ubiquitous expression in kidney (RPKM 12.8), skin (RPKM 8.6) and 23 other tissues
TMEM86B	chr19	55226639	55229264	-	ENSG00000180089.5	protein_coding	-	19q13.42	transmembrane protein 86B	-
TMEM87A	chr15	42210452	42273663	-	ENSG00000103978.15	protein_coding	-	15q15.1	transmembrane protein 87A	-
TMEM87B	chr2	112055223	112119318	+	ENSG00000153214.9	protein_coding	-	2q13	transmembrane protein 87B	Ubiquitous expression in prostate (RPKM 18.0), colon (RPKM 17.7) and 25 other tissues
TMEM88	chr17	7855065	7856099	+	ENSG00000167874.6	protein_coding	-	17p13.1	transmembrane protein 88	-
TMEM89	chr3	48620759	48621855	-	ENSG00000183396.3	protein_coding	-	3p21.31	transmembrane protein 89	-
TMEM8B	chr9	35814451	35854847	+	ENSG00000137103.16	protein_coding	C9orf127|FP588|LINC00950|NAG-5|NAG5|NGX6|NGX6a	9p13.3	transmembrane protein 8B	Ubiquitous expression in brain (RPKM 4.5), ovary (RPKM 3.3) and 23 other tissues
TMEM9	chr1	201134772	201171574	-	ENSG00000116857.16	protein_coding	DERM4|TMEM9A	1q32.1	transmembrane protein 9	Ubiquitous expression in brain (RPKM 25.4), thyroid (RPKM 25.3) and 25 other tissues
TMEM91	chr19	41350911	41384083	+	ENSG00000142046.14	protein_coding	DSPC3|IFITMD6	19q13.2	transmembrane protein 91	Broad expression in bone marrow (RPKM 6.3), testis (RPKM 5.0) and 25 other tissues
TMEM92	chr17	50271406	50281485	+	ENSG00000167105.7	protein_coding	-	17q21.33	transmembrane protein 92	-
TMEM94	chr17	75441159	75500090	+	ENSG00000177728.16	protein_coding	IDDCDF|KIAA0195	17q25.1	transmembrane protein 94	Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
TMEM95	chr17	7355123	7357219	+	ENSG00000182896.12	protein_coding	UNQ9390	17p13.1	transmembrane protein 95	Biased expression in testis (RPKM 4.1), thyroid (RPKM 3.1) and 1 other tissue
TMEM97	chr17	28319095	28328685	+	ENSG00000109084.13	protein_coding	MAC30|sigma2R	17q11.2	transmembrane protein 97	TMEM97 is a conserved integral membrane protein that plays a role in controlling cellular cholesterol levels (Bartz et al., 2009 [PubMed 19583955]).[supplied by OMIM, Aug 2009]
TMEM98	chr17	32927910	32945106	+	ENSG00000006042.11	protein_coding	TADA1	17q11.2	transmembrane protein 98	This gene encodes a transmembrane protein. A missense mutation in this gene result in Nanophthalmos 4 (NNO4). Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2014]
TMEM9B	chr11	8947294	8965011	-	ENSG00000175348.10	protein_coding	C11orf15	11p15.4	TMEM9 domain family member B	Ubiquitous expression in thyroid (RPKM 35.7), colon (RPKM 33.6) and 25 other tissues
TMEM9B-AS1	chr11	8964675	8977527	+	ENSG00000254860.5	antisense	C11orf18	11p15.4	TMEM9B antisense RNA 1	Ubiquitous expression in colon (RPKM 5.5), kidney (RPKM 4.4) and 24 other tissues
TMF1	chr3	69019827	69052303	-	ENSG00000144747.15	protein_coding	ARA160|TMF	3p14.1	TATA element modulatory factor 1	Ubiquitous expression in testis (RPKM 20.2), thyroid (RPKM 13.7) and 25 other tissues
TMIE	chr3	46701333	46710886	+	ENSG00000181585.3	protein_coding	DFNB6	3p21.31	transmembrane inner ear	This gene encodes a transmembrane inner ear protein. Studies in mouse suggest that this gene is required for normal postnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia bundles. This gene is one of multiple genes responsible for recessive non-syndromic deafness (DFNB), also known as autosomal recessive nonsyndromic hearing loss (ARNSHL), the most common form of congenitally acquired inherited hearing impairment. [provided by RefSeq, Mar 2009]
TMIGD2	chr19	4292232	4302431	-	ENSG00000167664.8	protein_coding	CD28H|IGPR-1|IGPR1	19p13.3	transmembrane and immunoglobulin domain containing 2	Enables coreceptor activity. Involved in positive regulation of T cell activation; positive regulation of angiogenesis; and positive regulation of cytokine production. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
TMOD1	chr9	97501180	97601748	+	ENSG00000136842.13	protein_coding	D9S57E|ETMOD|TMOD	9q22.33	tropomodulin 1	This gene encodes a member of the tropomodulin family. The encoded protein is an actin-capping protein that regulates tropomyosin by binding to its N-terminus, inhibiting depolymerization and elongation of the pointed end of actin filaments and thereby influencing the structure of the erythrocyte membrane skeleton. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]
TMOD2	chr15	51751561	51816368	+	ENSG00000128872.9	protein_coding	N-TMOD|NTMOD	15q21.2	tropomodulin 2	This gene encodes a neuronal-specific member of the tropomodulin family of actin-regulatory proteins. The encoded protein caps the pointed end of actin filaments preventing both elongation and depolymerization. The capping activity of this protein is dependent on its association with tropomyosin. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2008]
TMOD3	chr15	51829628	51947295	+	ENSG00000138594.13	protein_coding	UTMOD	15q21.2	tropomodulin 3	Ubiquitous expression in esophagus (RPKM 45.0), lung (RPKM 23.8) and 24 other tissues
TMOD4	chr1	151169986	151176284	-	ENSG00000163157.14	protein_coding	SK-TMOD	1q21.3	tropomodulin 4	Biased expression in prostate (RPKM 6.3), esophagus (RPKM 3.1) and 4 other tissues
TMPO	chr12	98515512	98550379	+	ENSG00000120802.13	protein_coding	CMD1T|LAP2|LEMD4|PRO0868|TP	12q23.1	thymopoietin	Through alternative splicing, this gene encodes several distinct LEM domain containing protein isoforms. LEM domain proteins include inner nuclear membrane and intranuclear proteins, and are involved in a variety of cellular functions including gene expression, chromatin organization, and replication and cell cycle control. The encoded alpha isoform is broadly diffuse in the nucleus and contains a lamin binding domain, while the beta and gamma isoforms are localized to the nuclear membrane and contain an HDAC3 interaction domain. The distinct isoforms may compete with each other when acting to chaperone other proteins and regulate transcription. [provided by RefSeq, Aug 2019]
TMPO-AS1	chr12	98512973	98516422	-	ENSG00000257167.2	antisense	-	12q23.1	TMPO antisense RNA 1	-
TMPOP1	chr6	30466452	30467994	+	ENSG00000229068.1	processed_pseudogene	Em:AB014080.3|TMPOL1	6p22.1	thymopoietin pseudogene 1	-
TMPPE	chr3	33090421	33096801	-	ENSG00000188167.8	protein_coding	-	3p22.3	transmembrane protein with metallophosphoesterase domain	-
TMPRSS11B	chr4	68226653	68245720	-	ENSG00000185873.7	protein_coding	HATL5	4q13.2	transmembrane serine protease 11B	Enables serine-type peptidase activity. Predicted to be involved in proteolysis. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
TMPRSS11CP	chr4	67766480	67773854	-	ENSG00000232398.1	unprocessed_pseudogene	-	4q13.2	transmembrane serine protease 11C, pseudogene	-
TMPRSS11D	chr4	67820876	67884032	-	ENSG00000153802.11	protein_coding	ASP|HAT	4q13.2	transmembrane serine protease 11D	This gene encodes a trypsin-like serine protease released from the submucosal serous glands onto mucous membrane. It is a type II integral membrane protein and has 29-38% identity in the sequence of the catalytic region with human hepsin, enteropeptidase, acrosin, and mast cell tryptase. The noncatalytic region has little similarity to other known proteins. This protein may play some biological role in the host defense system on the mucous membrane independently of or in cooperation with other substances in airway mucous or bronchial secretions. This protein facilitates entry of viruses into host cells by proteolytically cleaving and activating viral envelope glycoproteins. [provided by RefSeq, Aug 2021]
TMPRSS11E	chr4	68447449	68497604	+	ENSG00000087128.9	protein_coding	DESC1|TMPRSS11E2	4q13.2	transmembrane serine protease 11E	Predicted to enable serine-type peptidase activity. Involved in cognition. Predicted to be integral component of plasma membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
TMPRSS11F	chr4	68053198	68129880	-	ENSG00000198092.5	protein_coding	HATL4	4q13.2	transmembrane serine protease 11F	Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to act upstream of or within regulation of water loss via skin. Located in cell surface. [provided by Alliance of Genome Resources, Apr 2022]
TMPRSS12	chr12	50842920	50887884	+	ENSG00000186452.10	protein_coding	CT151	12q13.12	transmembrane serine protease 12	Restricted expression toward testis (RPKM 13.9)
TMPRSS13	chr11	117900643	117929459	-	ENSG00000137747.15	protein_coding	MSP|MSPL|MSPS|TMPRSS11	11q23.3	transmembrane serine protease 13	This gene encodes a member of the type II transmembrane serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Transmembrane serine proteases are regulated by protease inhibitors and known to function in development, homeostasis, infection, and tumorigenesis. This protein facilitates entry of viruses into host cells by proteolytically cleaving and activating viral envelope glycoproteins. [provided by RefSeq, Aug 2021]
TMPRSS2	chr21	41464551	41531116	-	ENSG00000184012.11	protein_coding	PRSS10	21q22.3	transmembrane serine protease 2	This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Serine proteases are known to be involved in many physiological and pathological processes. This gene was demonstrated to be up-regulated by androgenic hormones in prostate cancer cells and down-regulated in androgen-independent prostate cancer tissue. The protease domain of this protein is thought to be cleaved and secreted into cell media after autocleavage. This protein also facilitates entry of viruses into host cells by proteolytically cleaving and activating viral envelope glycoproteins. Viruses found to use this protein for cell entry include Influenza virus and the human coronaviruses HCoV-229E, MERS-CoV, SARS-CoV and SARS-CoV-2 (COVID-19 virus). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2020]
TMPRSS3	chr21	42371890	42396846	-	ENSG00000160183.13	protein_coding	DFNB10|DFNB8|ECHOS1|TADG12	21q22.3	transmembrane serine protease 3	This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
TMPRSS5	chr11	113687550	113706373	-	ENSG00000166682.10	protein_coding	SPINESIN	11q23.2	transmembrane serine protease 5	This gene encodes a protein that belongs to the serine protease family. Serine proteases are known to be involved in many physiological and pathological processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
TMPRSS6	chr22	37065436	37109563	-	ENSG00000187045.16	protein_coding	IRIDA|MT2	22q12.3	transmembrane serine protease 6	The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
TMPRSS9	chr19	2389771	2426239	+	ENSG00000178297.12	protein_coding	-	19p13.3	transmembrane serine protease 9	Broad expression in spleen (RPKM 1.4), testis (RPKM 1.2) and 25 other tissues
TMSB10	chr2	84905625	84906675	+	ENSG00000034510.5	protein_coding	MIG12|TB10	2p11.2	thymosin beta 10	Ubiquitous expression in appendix (RPKM 826.8), colon (RPKM 808.9) and 25 other tissues
TMSB4XP4	chr9	128342153	128342770	+	ENSG00000223551.1	processed_pseudogene	TMSL4	9q34.11	TMSB4X pseudogene 4	-
TMTC1	chr12	29500840	29784759	-	ENSG00000133687.15	protein_coding	ARG99|OLF|TMTC1A	12p11.22	transmembrane O-mannosyltransferase targeting cadherins 1	Broad expression in fat (RPKM 11.8), spleen (RPKM 11.6) and 20 other tissues
TMTC2	chr12	82686880	83134870	+	ENSG00000179104.8	protein_coding	IBDBP1	12q21.31	transmembrane O-mannosyltransferase targeting cadherins 2	The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
TMTC3	chr12	88142296	88199887	+	ENSG00000139324.11	protein_coding	LIS8|SMILE	12q21.32	transmembrane O-mannosyltransferase targeting cadherins 3	This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010]
TMTC4	chr13	100603927	100675093	-	ENSG00000125247.15	protein_coding	-	13q32.3	transmembrane O-mannosyltransferase targeting cadherins 4	Ubiquitous expression in brain (RPKM 8.0), testis (RPKM 5.8) and 25 other tissues
TMUB1	chr7	151081080	151083546	-	ENSG00000164897.12	protein_coding	C7orf21|DULP|HOPS|SB144	7q36.1	transmembrane and ubiquitin like domain containing 1	Ubiquitous expression in colon (RPKM 10.6), kidney (RPKM 10.4) and 25 other tissues
TMUB2	chr17	44186970	44191731	+	ENSG00000168591.15	protein_coding	FP2653	17q21.31	transmembrane and ubiquitin like domain containing 2	Ubiquitous expression in testis (RPKM 16.4), spleen (RPKM 14.8) and 25 other tissues
TMX2	chr11	57712600	57740973	+	ENSG00000213593.9	protein_coding	CGI-31|NEDMCMS|PDIA12|PIG26|TXNDC14	11q12.1	thioredoxin related transmembrane protein 2	This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This protein is enriched on the mitochondria-associated-membrane of the ER via palmitoylation of two of its cytosolically exposed cysteines. [provided by RefSeq, Jan 2017]
TMX3	chr18	68673688	68715298	-	ENSG00000166479.9	protein_coding	PDIA13|TXNDC10	18q22.1	thioredoxin related transmembrane protein 3	This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The canonical protein encoded by this gene has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]
TMX4	chr20	7977348	8019829	-	ENSG00000125827.8	protein_coding	DJ971N18.2|PDIA14|TXNDC13	20p12.3	thioredoxin related transmembrane protein 4	This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and C-terminal ASP/GLU-rich calcium binding domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The encoded protein has been shown to have reductase activity in vitro. [provided by RefSeq, Jan 2017]
TNC	chr9	115019578	115118257	-	ENSG00000041982.15	protein_coding	150-225|DFNA56|GMEM|GP|HXB|JI|TN|TN-C	9q33.1	tenascin C	This gene encodes an extracellular matrix protein with a spatially and temporally restricted tissue distribution. This protein is homohexameric with disulfide-linked subunits, and contains multiple EGF-like and fibronectin type-III domains. It is implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity, and neuronal regeneration. [provided by RefSeq, Jul 2011]
TNF	chr6	31575567	31578336	+	ENSG00000232810.3	protein_coding	DIF|TNF-alpha|TNFA|TNFSF2|TNLG1F	6p21.33	tumor necrosis factor	This gene encodes a multifunctional proinflammatory cytokine that belongs to the tumor necrosis factor (TNF) superfamily. This cytokine is mainly secreted by macrophages. It can bind to, and thus functions through its receptors TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. This cytokine is involved in the regulation of a wide spectrum of biological processes including cell proliferation, differentiation, apoptosis, lipid metabolism, and coagulation. This cytokine has been implicated in a variety of diseases, including autoimmune diseases, insulin resistance, psoriasis, rheumatoid arthritis ankylosing spondylitis, tuberculosis, autosomal dominant polycystic kidney disease, and cancer. Mutations in this gene affect susceptibility to cerebral malaria, septic shock, and Alzheimer disease. Knockout studies in mice also suggested the neuroprotective function of this cytokine. [provided by RefSeq, Aug 2020]
TNFAIP1	chr17	28335602	28347009	+	ENSG00000109079.9	protein_coding	B12|B61|BTBD34|EDP1|hBACURD2	17q11.2	TNF alpha induced protein 1	This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. Studies of a similar gene in mouse suggest that the expression of this gene is developmentally regulated in a tissue-specific manner. [provided by RefSeq, Jul 2008]
TNFAIP2	chr14	103123442	103137439	+	ENSG00000185215.8	protein_coding	B94|EXOC3L3	14q32.32	TNF alpha induced protein 2	This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. The expression of this gene was shown to be induced by retinoic acid in a cell line expressing a oncogenic version of the retinoic acid receptor alpha fusion protein, which suggested that this gene may be a retinoic acid target gene in acute promyelocytic leukemia. [provided by RefSeq, Jul 2008]
TNFAIP3	chr6	137867188	137883312	+	ENSG00000118503.14	protein_coding	A20|AISBL|OTUD7C|TNFA1P2	6q23.3	TNF alpha induced protein 3	This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012]
TNFAIP6	chr2	151357592	151380048	+	ENSG00000123610.4	protein_coding	TSG-6|TSG6	2q23.3	TNF alpha induced protein 6	The protein encoded by this gene is a secretory protein that contains a hyaluronan-binding domain, and thus is a member of the hyaluronan-binding protein family. The hyaluronan-binding domain is known to be involved in extracellular matrix stability and cell migration. This protein has been shown to form a stable complex with inter-alpha-inhibitor (I alpha I), and thus enhance the serine protease inhibitory activity of I alpha I, which is important in the protease network associated with inflammation. This gene can be induced by proinflammatory cytokines such as tumor necrosis factor alpha and interleukin-1. Enhanced levels of this protein are found in the synovial fluid of patients with osteoarthritis and rheumatoid arthritis.[provided by RefSeq, Dec 2010]
TNFAIP8	chr5	119268692	119399688	+	ENSG00000145779.7	protein_coding	GG2-1|MDC-3.13|NDED|SCC-S2|SCCS2	5q23.1	TNF alpha induced protein 8	Broad expression in lymph node (RPKM 31.1), fat (RPKM 24.0) and 19 other tissues
TNFAIP8L1	chr19	4639518	4655568	+	ENSG00000185361.8	protein_coding	TIPE1	19p13.3	TNF alpha induced protein 8 like 1	Ubiquitous expression in liver (RPKM 6.4), spleen (RPKM 5.8) and 24 other tissues
TNFAIP8L2	chr1	151156629	151159749	+	ENSG00000163154.5	protein_coding	TIPE2	1q21.3	TNF alpha induced protein 8 like 2	Broad expression in spleen (RPKM 30.0), lymph node (RPKM 26.2) and 14 other tissues
TNFAIP8L3	chr15	51056598	51105276	-	ENSG00000183578.6	protein_coding	TIPE3	15q21.2	TNF alpha induced protein 8 like 3	Broad expression in endometrium (RPKM 16.6), esophagus (RPKM 6.5) and 15 other tissues
TNFRSF10A	chr8	23190452	23225126	-	ENSG00000104689.9	protein_coding	APO2|CD261|DR4|TRAILR-1|TRAILR1	8p21.3	TNF receptor superfamily member 10a	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL), and thus transduces cell death signal and induces cell apoptosis. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. [provided by RefSeq, Jul 2008]
TNFRSF10B	chr8	23020133	23069179	-	ENSG00000120889.12	protein_coding	CD262|DR5|KILLER|KILLER/DR5|TRAIL-R2|TRAILR2|TRICK2|TRICK2A|TRICK2B|TRICKB|ZTNFR9	8p21.3	TNF receptor superfamily member 10b	The protein encoded by this gene is a member of the TNF-receptor superfamily, and contains an intracellular death domain. This receptor can be activated by tumor necrosis factor-related apoptosis inducing ligand (TNFSF10/TRAIL/APO-2L), and transduces an apoptosis signal. Studies with FADD-deficient mice suggested that FADD, a death domain containing adaptor protein, is required for the apoptosis mediated by this protein. Two transcript variants encoding different isoforms and one non-coding transcript have been found for this gene. [provided by RefSeq, Mar 2009]
TNFRSF10C	chr8	23084355	23117437	+	ENSG00000173535.13	protein_coding	CD263|DCR1|DCR1-TNFR|LIT|TRAIL-R3|TRAILR3|TRID	8p21.3	TNF receptor superfamily member 10c	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain and a transmembrane domain, but no cytoplasmic death domain. This receptor is not capable of inducing apoptosis, and is thought to function as an antagonistic receptor that protects cells from TRAIL-induced apoptosis. This gene was found to be a p53-regulated DNA damage-inducible gene. The expression of this gene was detected in many normal tissues but not in most cancer cell lines, which may explain the specific sensitivity of cancer cells to the apoptosis-inducing activity of TRAIL. [provided by RefSeq, Jul 2008]
TNFRSF10D	chr8	23135588	23164030	-	ENSG00000173530.5	protein_coding	CD264|DCR2|TRAIL-R4|TRAILR4|TRUNDD	8p21.3	TNF receptor superfamily member 10d	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain, a transmembrane domain, and a truncated cytoplamic death domain. This receptor does not induce apoptosis, and has been shown to play an inhibitory role in TRAIL-induced cell apoptosis. [provided by RefSeq, Jul 2008]
TNFRSF11A	chr18	62325287	62391292	+	ENSG00000141655.16	protein_coding	CD265|FEO|LOH18CR1|ODFR|OFE|OPTB7|OSTS|PDB2|RANK|TRANCE-R|TRANCER	18q21.33	TNF receptor superfamily member 11a	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]
TNFRSF11B	chr8	118923557	118952200	-	ENSG00000164761.8	protein_coding	OCIF|OPG|PDB5|TR1	8q24.12	TNF receptor superfamily member 11b	The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein is an osteoblast-secreted decoy receptor that functions as a negative regulator of bone resorption. This protein specifically binds to its ligand, osteoprotegerin ligand, both of which are key extracellular regulators of osteoclast development. Studies of the mouse counterpart also suggest that this protein and its ligand play a role in lymph-node organogenesis and vascular calcification. Alternatively spliced transcript variants of this gene have been reported, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]
TNFRSF12A	chr16	3018445	3022383	+	ENSG00000006327.13	protein_coding	CD266|FN14|TWEAKR	16p13.3	TNF receptor superfamily member 12A	Ubiquitous expression in gall bladder (RPKM 21.3), liver (RPKM 18.8) and 23 other tissues
TNFRSF13B	chr17	16929816	16972118	-	ENSG00000240505.8	protein_coding	CD267|CVID|CVID2|IGAD2|RYZN|TACI|TNFRSF14B	17p11.2	TNF receptor superfamily member 13B	The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
TNFRSF13C	chr22	41922023	41926818	-	ENSG00000159958.6	protein_coding	BAFF-R|BAFFR|BROMIX|CD268|CVID4|prolixin	22q13.2	TNF receptor superfamily member 13C	B cell-activating factor (BAFF) enhances B-cell survival in vitro and is a regulator of the peripheral B-cell population. Overexpression of Baff in mice results in mature B-cell hyperplasia and symptoms of systemic lupus erythematosus (SLE). Also, some SLE patients have increased levels of BAFF in serum. Therefore, it has been proposed that abnormally high levels of BAFF may contribute to the pathogenesis of autoimmune diseases by enhancing the survival of autoreactive B cells. The protein encoded by this gene is a receptor for BAFF and is a type III transmembrane protein containing a single extracellular cysteine-rich domain. It is thought that this receptor is the principal receptor required for BAFF-mediated mature B-cell survival. [provided by RefSeq, Jul 2008]
TNFRSF14	chr1	2555639	2565382	+	ENSG00000157873.17	protein_coding	ATAR|CD270|HVEA|HVEM|LIGHTR|TR2	1p36.32	TNF receptor superfamily member 14	This gene encodes a member of the TNF (tumor necrosis factor) receptor superfamily. The encoded protein functions in signal transduction pathways that activate inflammatory and inhibitory T-cell immune response. It binds herpes simplex virus (HSV) viral envelope glycoprotein D (gD), mediating its entry into cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
TNFRSF17	chr16	11965107	11968068	+	ENSG00000048462.10	protein_coding	BCM|BCMA|CD269|TNFRSF13A	16p13.13	TNF receptor superfamily member 17	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This receptor has been shown to specifically bind to the tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This receptor also binds to various TRAF family members, and thus may transduce signals for cell survival and proliferation. [provided by RefSeq, Jul 2008]
TNFRSF18	chr1	1203508	1206691	-	ENSG00000186891.13	protein_coding	AITR|CD357|ENERGEN|GITR|GITR-D	1p36.33	TNF receptor superfamily member 18	This gene encodes a member of the TNF-receptor superfamily. The encoded receptor has been shown to have increased expression upon T-cell activation, and it is thought to play a key role in dominant immunological self-tolerance maintained by CD25(+)CD4(+) regulatory T cells. Knockout studies in mice also suggest the role of this receptor is in the regulation of CD3-driven T-cell activation and programmed cell death. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Feb 2011]
TNFRSF19	chr13	23570370	23676104	+	ENSG00000127863.15	protein_coding	TAJ|TAJ-alpha|TRADE|TROY	13q12.12	TNF receptor superfamily member 19	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is highly expressed during embryonic development. It has been shown to interact with TRAF family members, and to activate JNK signaling pathway when overexpressed in cells. This receptor is capable of inducing apoptosis by a caspase-independent mechanism, and it is thought to play an essential role in embryonic development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
TNFRSF1A	chr12	6328757	6342114	-	ENSG00000067182.7	protein_coding	CD120a|FPF|TBP1|TNF-R|TNF-R-I|TNF-R55|TNFAR|TNFR1|TNFR55|TNFR60|p55|p55-R|p60	12p13.31	TNF receptor superfamily member 1A	This gene encodes a member of the TNF receptor superfamily of proteins. The encoded receptor is found in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectively, of its ligand, tumor necrosis factor alpha. Binding of membrane-bound tumor necrosis factor alpha to the membrane-bound receptor induces receptor trimerization and activation, which plays a role in cell survival, apoptosis, and inflammation. Proteolytic processing of the encoded receptor results in release of the soluble form of the receptor, which can interact with free tumor necrosis factor alpha to inhibit inflammation. Mutations in this gene underlie tumor necrosis factor receptor-associated periodic syndrome (TRAPS), characterized by fever, abdominal pain and other features. Mutations in this gene may also be associated with multiple sclerosis in human patients. [provided by RefSeq, Sep 2016]
TNFRSF1B	chr1	12167003	12209228	+	ENSG00000028137.18	protein_coding	CD120b|TBPII|TNF-R-II|TNF-R75|TNFBR|TNFR1B|TNFR2|TNFR80|p75|p75TNFR	1p36.22	TNF receptor superfamily member 1B	The protein encoded by this gene is a member of the TNF-receptor superfamily. This protein and TNF-receptor 1 form a heterocomplex that mediates the recruitment of two anti-apoptotic proteins, c-IAP1 and c-IAP2, which possess E3 ubiquitin ligase activity. The function of IAPs in TNF-receptor signalling is unknown, however, c-IAP1 is thought to potentiate TNF-induced apoptosis by the ubiquitination and degradation of TNF-receptor-associated factor 2, which mediates anti-apoptotic signals. Knockout studies in mice also suggest a role of this protein in protecting neurons from apoptosis by stimulating antioxidative pathways. [provided by RefSeq, Jul 2008]
TNFRSF21	chr6	47231532	47309905	-	ENSG00000146072.6	protein_coding	BM-018|CD358|DR6	6p12.3	TNF receptor superfamily member 21	This gene encodes a member of the tumor necrosis factor receptor superfamily. The encoded protein activates nuclear factor kappa-B and mitogen-activated protein kinase 8 (also called c-Jun N-terminal kinase 1), and induces cell apoptosis. Through its death domain, the encoded receptor interacts with tumor necrosis factor receptor type 1-associated death domain (TRADD) protein, which is known to mediate signal transduction of tumor necrosis factor receptors. Knockout studies in mice suggest that this gene plays a role in T-helper cell activation, and may be involved in inflammation and immune regulation. [provided by RefSeq, Jul 2013]
TNFRSF4	chr1	1211326	1214138	-	ENSG00000186827.10	protein_coding	ACT35|CD134|IMD16|OX40|TXGP1L	1p36.33	TNF receptor superfamily member 4	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor has been shown to activate NF-kappaB through its interaction with adaptor proteins TRAF2 and TRAF5. Knockout studies in mice suggested that this receptor promotes the expression of apoptosis inhibitors BCL2 and BCL2lL1/BCL2-XL, and thus suppresses apoptosis. The knockout studies also suggested the roles of this receptor in CD4+ T cell response, as well as in T cell-dependent B cell proliferation and differentiation. [provided by RefSeq, Jul 2008]
TNFRSF6B	chr20	63696668	63698684	+	ENSG00000243509.4	protein_coding	DCR3|DJ583P15.1.1|M68|M68E|TR6	20q13.33	TNF receptor superfamily member 6b	This gene belongs to the tumor necrosis factor receptor superfamily. The encoded protein is postulated to play a regulatory role in suppressing FasL- and LIGHT-mediated cell death. It acts as a decoy receptor that competes with death receptors for ligand binding. Over-expression of this gene has been noted in gastrointestinal tract tumors. Read-through transcription into this gene from the neighboring upstream gene, which encodes regulator of telomere elongation helicase 1 (RTEL1), generates a non-coding transcript. [provided by RefSeq, Feb 2011]
TNFRSF8	chr1	12063377	12144207	+	ENSG00000120949.14	protein_coding	CD30|D1S166E|Ki-1	1p36.22	TNF receptor superfamily member 8	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed by activated, but not by resting, T and B cells. TRAF2 and TRAF5 can interact with this receptor, and mediate the signal transduction that leads to the activation of NF-kappaB. This receptor is a positive regulator of apoptosis, and also has been shown to limit the proliferative potential of autoreactive CD8 effector T cells and protect the body against autoimmunity. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
TNFRSF9	chr1	7915894	7943165	-	ENSG00000049249.8	protein_coding	4-1BB|CD137|CDw137|ILA	1p36.23	TNF receptor superfamily member 9	The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contributes to the clonal expansion, survival, and development of T cells. It can also induce proliferation in peripheral monocytes, enhance T cell apoptosis induced by TCR/CD3 triggered activation, and regulate CD28 co-stimulation to promote Th1 cell responses. The expression of this receptor is induced by lymphocyte activation. TRAF adaptor proteins have been shown to bind to this receptor and transduce the signals leading to activation of NF-kappaB. [provided by RefSeq, Jul 2008]
TNFSF10	chr3	172505508	172523507	-	ENSG00000121858.10	protein_coding	APO2L|Apo-2L|CD253|TL2|TNLG6A|TRAIL	3q26.31	TNF superfamily member 10	The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein preferentially induces apoptosis in transformed and tumor cells, but does not appear to kill normal cells although it is expressed at a significant level in most normal tissues. This protein binds to several members of TNF receptor superfamily including TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and possibly also to TNFRSF11B/OPG. The activity of this protein may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4, and TNFRSF11B/OPG that cannot induce apoptosis. The binding of this protein to its receptors has been shown to trigger the activation of MAPK8/JNK, caspase 8, and caspase 3. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
TNFSF11	chr13	42562736	42608013	+	ENSG00000120659.14	protein_coding	CD254|ODF|OPGL|OPTB2|RANKL|TNLG6B|TRANCE|hRANKL2|sOdf	13q14.11	TNF superfamily member 11	This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. [provided by RefSeq, Jul 2008]
TNFSF12	chr17	7548891	7557890	+	ENSG00000239697.10	protein_coding	APO3L|DR3LG|TNLG4A|TWEAK	17p13.1	TNF superfamily member 12	The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is a ligand for the FN14/TWEAKR receptor. This cytokine has overlapping signaling functions with TNF, but displays a much wider tissue distribution. This cytokine, which exists in both membrane-bound and secreted forms, can induce apoptosis via multiple pathways of cell death in a cell type-specific manner. This cytokine is also found to promote proliferation and migration of endothelial cells, and thus acts as a regulator of angiogenesis. Alternative splicing results in multiple transcript variants. Some transcripts skip the last exon of this gene and continue into the second exon of the neighboring TNFSF13 gene; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010]
TNFSF13	chr17	7558292	7561608	+	ENSG00000161955.16	protein_coding	APRIL|CD256|TALL-2|TALL2|TNLG7B|TRDL-1|UNQ383/PRO715|ZTNF2	17p13.1	TNF superfamily member 13	The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF17/BCMA, a member of the TNF receptor family. This protein and its receptor are both found to be important for B cell development. In vitro experiments suggested that this protein may be able to induce apoptosis through its interaction with other TNF receptor family proteins such as TNFRSF6/FAS and TNFRSF14/HVEM. Alternative splicing results in multiple transcript variants. Some transcripts that skip the last exon of the upstream gene (TNFSF12) and continue into the second exon of this gene have been identified; such read-through transcripts are contained in GeneID 407977, TNFSF12-TNFSF13. [provided by RefSeq, Oct 2010]
TNFSF13B	chr13	108251240	108308484	+	ENSG00000102524.11	protein_coding	BAFF|BLYS|CD257|DTL|TALL-1|TALL1|THANK|TNFSF20|TNLG7A|ZTNF4	13q33.3	TNF superfamily member 13b	The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptors TNFRSF13B/TACI, TNFRSF17/BCMA, and TNFRSF13C/BAFFR. This cytokine is expressed in B cell lineage cells, and acts as a potent B cell activator. It has been also shown to play an important role in the proliferation and differentiation of B cells. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]
TNFSF15	chr9	114784635	114806126	-	ENSG00000181634.7	protein_coding	TL1|TL1A|TNLG1B|VEGI|VEGI192A	9q32	TNF superfamily member 15	The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This protein is abundantly expressed in endothelial cells, but is not expressed in either B or T cells. The expression of this protein is inducible by TNF and IL-1 alpha. This cytokine is a ligand for receptor TNFRSF25 and decoy receptor TNFRSF21/DR6. It can activate NF-kappaB and MAP kinases, and acts as an autocrine factor to induce apoptosis in endothelial cells. This cytokine is also found to inhibit endothelial cell proliferation, and thus may function as an angiogenesis inhibitor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
TNFSF18	chr1	173039960	173050963	-	ENSG00000120337.8	protein_coding	AITRL|GITRL|TL6|TNLG2A|hGITRL	1q25.1	TNF superfamily member 18	The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptor TNFRSF18/AITR/GITR. It has been shown to modulate T lymphocyte survival in peripheral tissues. This cytokine is also found to be expressed in endothelial cells, and is thought to be important for interaction between T lymphocytes and endothelial cells. [provided by RefSeq, Jul 2008]
TNFSF4	chr1	173183734	173207313	-	ENSG00000117586.10	protein_coding	CD134L|CD252|GP34|OX-40L|OX4OL|TNLG2B|TXGP1	1q25.1	TNF superfamily member 4	This gene encodes a cytokine of the tumor necrosis factor (TNF) ligand family. The encoded protein functions in T cell antigen-presenting cell (APC) interactions and mediates adhesion of activated T cells to endothelial cells. Polymorphisms in this gene have been associated with Sjogrens syndrome and systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
TNFSF8	chr9	114893343	114930595	-	ENSG00000106952.7	protein_coding	CD153|CD30L|CD30LG|TNLG3A	9q32-q33.1	TNF superfamily member 8	The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF8/CD30, which is a cell surface antigen and a marker for Hodgkin lymphoma and related hematologic malignancies. The engagement of this cytokine expressed on B cell surface plays an inhibitory role in modulating Ig class switch. This cytokine was shown to enhance cell proliferation of some lymphoma cell lines, while to induce cell death and reduce cell proliferation of other lymphoma cell lines. The pleiotropic biologic activities of this cytokine on different CD30+ lymphoma cell lines may play a pathophysiologic role in Hodgkins and some non-Hodgkins lymphomas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
TNFSF9	chr19	6530999	6535928	+	ENSG00000125657.4	protein_coding	4-1BB-L|CD137L|TNLG5A	19p13.3	TNF superfamily member 9	The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This transmembrane cytokine is a bidirectional signal transducer that acts as a ligand for TNFRSF9/4-1BB, which is a costimulatory receptor molecule in T lymphocytes. This cytokine and its receptor are involved in the antigen presentation process and in the generation of cytotoxic T cells. The receptor TNFRSF9/4-1BB is absent from resting T lymphocytes but rapidly expressed upon antigenic stimulation. The ligand encoded by this gene, TNFSF9/4-1BBL, has been shown to reactivate anergic T lymphocytes in addition to promoting T lymphocyte proliferation. This cytokine has also been shown to be required for the optimal CD8 responses in CD8 T cells. This cytokine is expressed in carcinoma cell lines, and is thought to be involved in T cell-tumor cell interaction.[provided by RefSeq, Oct 2008]
TNIK	chr3	171061339	171460408	-	ENSG00000154310.16	protein_coding	MRT54	3q26.2-q26.31	TRAF2 and NCK interacting kinase	Wnt signaling plays important roles in carcinogenesis and embryonic development. The protein encoded by this gene is a serine/threonine kinase that functions as an activator of the Wnt signaling pathway. Mutations in this gene are associated with an autosomal recessive form of cognitive disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]
TNIP1	chr5	151029945	151093577	-	ENSG00000145901.14	protein_coding	ABIN-1|NAF1|VAN|nip40-1	5q33.1	TNFAIP3 interacting protein 1	This gene encodes an A20-binding protein which plays a role in autoimmunity and tissue homeostasis through the regulation of nuclear factor kappa-B activation. Mutations in this gene have been associated with psoriatic arthritis, rheumatoid arthritis, and systemic lupus erythematosus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
TNIP2	chr4	2741648	2756376	-	ENSG00000168884.14	protein_coding	ABIN2|FLIP1|KLIP	4p16.3	TNFAIP3 interacting protein 2	This gene encodes a protein which acts as an inhibitor of NFkappaB activation. The encoded protein is also involved in MAP/ERK signaling pathway in specific cell types. It may be involved in apoptosis of endothelial cells. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome.[provided by RefSeq, May 2014]
TNK1	chr17	7380534	7389774	+	ENSG00000174292.12	protein_coding	KOS1	17p13.1	tyrosine kinase non receptor 1	The protein encoded by this gene belongs to the tyrosine protein kinase family. Tyrosine protein kinases are important regulators of intracellular signal transduction pathways, mediating cellular proliferation, survival, and development. This gene is highly expressed in fetal tissues and at lower levels in few adult tissues, thus may function in signaling pathways utilized broadly during fetal development, and more selectively in adult tissues. It plays a negative regulatory role in the Ras-Raf1-MAPK pathway, and knockout mice have been shown to develop spontaneous tumors, suggesting a role as a tumor suppressor gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
TNK2	chr3	195863364	195911945	-	ENSG00000061938.16	protein_coding	ACK|ACK-1|ACK1|p21cdc42Hs	3q29	tyrosine kinase non receptor 2	This gene encodes a tyrosine kinase that binds Cdc42Hs in its GTP-bound form and inhibits both the intrinsic and GTPase-activating protein (GAP)-stimulated GTPase activity of Cdc42Hs. This binding is mediated by a unique sequence of 47 amino acids C-terminal to an SH3 domain. The protein may be involved in a regulatory mechanism that sustains the GTP-bound active form of Cdc42Hs and which is directly linked to a tyrosine phosphorylation signal transduction pathway. Several alternatively spliced transcript variants have been identified from this gene, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]
TNK2-AS1	chr3	195908076	195911257	+	ENSG00000224614.1	antisense	-	3q29	TNK2 antisense RNA 1	-
TNKS	chr8	9555914	9782346	+	ENSG00000173273.15	protein_coding	ARTD5|PARP-5a|PARP5A|PARPL|TIN1|TINF1|TNKS1|pART5	8p23.1	tankyrase	Ubiquitous expression in testis (RPKM 8.6), brain (RPKM 7.0) and 25 other tissues
TNKS1BP1	chr11	57299638	57324952	-	ENSG00000149115.13	protein_coding	TAB182	11q12.1	tankyrase 1 binding protein 1	Ubiquitous expression in skin (RPKM 32.4), fat (RPKM 31.8) and 24 other tissues
TNKS2	chr10	91798312	91865276	+	ENSG00000107854.5	protein_coding	ARTD6|PARP-5b|PARP-5c|PARP5B|PARP5C|TANK2|TNKL|pART6	10q23.32	tankyrase 2	Ubiquitous expression in thyroid (RPKM 15.7), placenta (RPKM 12.5) and 25 other tissues
TNKS2-DT	chr10	 91782839	91798291	-	ENSG00000228701	ncRNA	TNKS2-AS1	10q23.32	TNKS2 divergent transcript	-
TNN	chr1	175067858	175148066	+	ENSG00000120332.15	protein_coding	TN-W|TNW	1q25.1	tenascin N	Biased expression in fat (RPKM 11.1), thyroid (RPKM 1.5) and 2 other tissues
TNNC1	chr3	52451102	52454070	-	ENSG00000114854.7	protein_coding	CMD1Z|CMH13|TN-C|TNC|TNNC	3p21.1	troponin C1, slow skeletal and cardiac type	Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z. [provided by RefSeq, Oct 2008]
TNNC2	chr20	45823214	45833745	-	ENSG00000101470.9	protein_coding	CFAP85|FAP85	20q13.12	troponin C2, fast skeletal type	Troponin (Tn), a key protein complex in the regulation of striated muscle contraction, is composed of 3 subunits. The Tn-I subunit inhibits actomyosin ATPase, the Tn-T subunit binds tropomyosin and Tn-C, while the Tn-C subunit binds calcium and overcomes the inhibitory action of the troponin complex on actin filaments. The protein encoded by this gene is the Tn-C subunit. [provided by RefSeq, Jul 2008]
TNNI1	chr1	201403768	201429866	-	ENSG00000159173.18	protein_coding	SSTNI|TNN1	1q32.1	troponin I1, slow skeletal type	Troponin proteins associate with tropomyosin and regulate the calcium sensitivity of the myofibril contractile apparatus of striated muscles. Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. The TnI-fast and TnI-slow genes are expressed in fast-twitch and slow-twitch skeletal muscle fibers, respectively, while the TnI-cardiac gene is expressed exclusively in cardiac muscle tissue. This gene encodes the Troponin-I-skeletal-slow-twitch protein. This gene is expressed in cardiac and skeletal muscle during early development but is restricted to slow-twitch skeletal muscle fibers in adults. The encoded protein prevents muscle contraction by inhibiting calcium-mediated conformational changes in actin-myosin complexes. [provided by RefSeq, Jul 2008]
TNNI2	chr11	1838989	1841680	+	ENSG00000130598.15	protein_coding	AMCD2B|DA2B|DA2B1|FSSV|fsTnI	11p15.5	troponin I2, fast skeletal type	This gene encodes a fast-twitch skeletal muscle protein, a member of the troponin I gene family, and a component of the troponin complex including troponin T, troponin C and troponin I subunits. The troponin complex, along with tropomyosin, is responsible for the calcium-dependent regulation of striated muscle contraction. Mouse studies show that this component is also present in vascular smooth muscle and may play a role in regulation of smooth muscle function. In addition to muscle tissues, this protein is found in corneal epithelium, cartilage where it is an inhibitor of angiogenesis to inhibit tumor growth and metastasis, and mammary gland where it functions as a co-activator of estrogen receptor-related receptor alpha. This protein also suppresses tumor growth in human ovarian carcinoma. Mutations in this gene cause myopathy and distal arthrogryposis type 2B. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
TNNI3	chr19	55151767	55157773	-	ENSG00000129991.12	protein_coding	CMD1FF|CMD2A|CMH7|RCM1|TNNC1|cTnI	19q13.42	troponin I3, cardiac type	Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). Troponin I is useful in making a diagnosis of heart failure, and of ischemic heart disease. An elevated level of troponin is also now used as indicator of acute myocardial injury in patients hospitalized with moderate/severe Coronavirus Disease 2019 (COVID-19). Such elevation has also been associated with higher risk of mortality in cardiovascular disease patients hospitalized due to COVID-19. [provided by RefSeq, Aug 2020]
TNNI3K	chr1	74235401	74544428	+	ENSG00000116783.14	protein_coding	CARK|CCDD	1p31.1	TNNI3 interacting kinase	This gene encodes a protein that belongs to the MAP kinase kinase kinase (MAPKKK) family of protein kinases. The protein contains ankyrin repeat, protein kinase and serine-rich domains and is thought to play a role in cardiac physiology. [provided by RefSeq, Sep 2012]
TNNT1	chr19	55132794	55149354	-	ENSG00000105048.16	protein_coding	ANM|NEM5|STNT|TNT|TNTS	19q13.42	troponin T1, slow skeletal type	This gene encodes a protein that is a subunit of troponin, which is a regulatory complex located on the thin filament of the sarcomere. This complex regulates striated muscle contraction in response to fluctuations in intracellular calcium concentration. This complex is composed of three subunits: troponin C, which binds calcium, troponin T, which binds tropomyosin, and troponin I, which is an inhibitory subunit. This protein is the slow skeletal troponin T subunit. Mutations in this gene cause nemaline myopathy type 5, also known as Amish nemaline myopathy, a neuromuscular disorder characterized by muscle weakness and rod-shaped, or nemaline, inclusions in skeletal muscle fibers which affects infants, resulting in death due to respiratory insufficiency, usually in the second year. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
TNNT2	chr1	201359008	201377762	-	ENSG00000118194.18	protein_coding	CMD1D|CMH2|CMPD2|LVNC6|RCM3|TnTC|cTnT	1q32.1	troponin T2, cardiac type	The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing that results in many tissue-specific isoforms, however, the full-length nature of some of these variants has not yet been determined. [provided by RefSeq, Jul 2008]
TNNT3	chr11	1919562	1938706	+	ENSG00000130595.17	protein_coding	DA2B2|TNTF|beta-TnTF	11p15.5	troponin T3, fast skeletal type	The binding of Ca(2+) to the trimeric troponin complex initiates the process of muscle contraction. Increased Ca(2+) concentrations produce a conformational change in the troponin complex that is transmitted to tropomyosin dimers situated along actin filaments. The altered conformation permits increased interaction between a myosin head and an actin filament which, ultimately, produces a muscle contraction. The troponin complex has protein subunits C, I, and T. Subunit C binds Ca(2+) and subunit I binds to actin and inhibits actin-myosin interaction. Subunit T binds the troponin complex to the tropomyosin complex and is also required for Ca(2+)-mediated activation of actomyosin ATPase activity. There are 3 different troponin T genes that encode tissue-specific isoforms of subunit T for fast skeletal-, slow skeletal-, and cardiac-muscle. This gene encodes fast skeletal troponin T protein; also known as troponin T type 3. Alternative splicing results in multiple transcript variants encoding additional distinct troponin T type 3 isoforms. A developmentally regulated switch between fetal/neonatal and adult troponin T type 3 isoforms occurs. Additional splice variants have been described but their biological validity has not been established. Mutations in this gene may cause distal arthrogryposis multiplex congenita type 2B (DA2B). [provided by RefSeq, Oct 2009]
TNP1	chr2	216859458	216860064	-	ENSG00000118245.2	protein_coding	TP1	2q35	transition protein 1	Transition protein-1 is a spermatid-specific product of the haploid genome which replaces histone and is itself replaced in the mature sperm by the protamines (see PRM1, MIM 182880; PRM2, MIM 182890) (Luerssen et al., 1990 [PubMed 2249851]).[supplied by OMIM, Mar 2008]
TNPO1	chr5	72816312	72916733	+	ENSG00000083312.17	protein_coding	IPO2|KPNB2|MIP|MIP1|TRN	5q13.2	transportin 1	This gene encodes the beta subunit of the karyopherin receptor complex which interacts with nuclear localization signals to target nuclear proteins to the nucleus. The karyopherin receptor complex is a heterodimer of an alpha subunit which recognizes the nuclear localization signal and a beta subunit which docks the complex at nucleoporins. Alternate splicing of this gene results in several transcript variants encoding different proteins. [provided by RefSeq, Jun 2018]
TNPO2	chr19	12699194	12724011	-	ENSG00000105576.15	protein_coding	IDDHISD|IPO3|KPNB2B|TRN2	19p13.13	transportin 2	Predicted to enable nuclear import signal receptor activity and nuclear localization sequence binding activity. Predicted to be involved in protein import into nucleus. Predicted to act upstream of or within negative regulation of muscle cell differentiation. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
TNPO3	chr7	128954180	129055173	-	ENSG00000064419.13	protein_coding	IPO12|LGMD1F|LGMDD2|MTR10A|TRN-SR|TRN-SR2|TRNSR	7q32.1	transportin 3	The protein encoded by this gene is a nuclear import receptor for serine/arginine-rich (SR) proteins such as the splicing factors SFRS1 and SFRS2. The encoded protein has also been shown to be involved in HIV-1 infection, apparently through interaction with the HIV-1 capsid protein. Several protein-coding and non-coding transcript variants have been found for this gene. [provided by RefSeq, Apr 2020]
TNRC18	chr7	5306790	5425414	-	ENSG00000182095.14	protein_coding	CAGL79|TNRC18A	7p22.1	trinucleotide repeat containing 18	Ubiquitous expression in kidney (RPKM 6.4), colon (RPKM 6.2) and 25 other tissues
TNRC6A	chr16	24610209	24827632	+	ENSG00000090905.18	protein_coding	CAGH26|FAME6|GW1|GW182|TNRC6	16p12.1	trinucleotide repeat containing adaptor 6A	This gene encodes a member of the trinucleotide repeat containing 6 protein family. The protein functions in post-transcriptional gene silencing through the RNA interference (RNAi) and microRNA pathways. The protein associates with messenger RNAs and Argonaute proteins in cytoplasmic bodies known as GW-bodies or P-bodies. Inhibiting expression of this gene delocalizes other GW-body proteins and impairs RNAi and microRNA-induced gene silencing. [provided by RefSeq, Jul 2008]
TNRC6B	chr22	40044817	40335808	+	ENSG00000100354.20	protein_coding	GDSBA	22q13.1	trinucleotide repeat containing adaptor 6B	Ubiquitous expression in testis (RPKM 3.9), thyroid (RPKM 2.3) and 25 other tissues
TNRC6C	chr17	77959240	78108835	+	ENSG00000078687.17	protein_coding	-	17q25.3	trinucleotide repeat containing adaptor 6C	-
TNS1	chr2	217799789	218002995	-	ENSG00000079308.16	protein_coding	MST091|MST122|MST127|MSTP091|MSTP122|MSTP127|MXRA6|PPP1R155|TNS	2q35	tensin 1	The protein encoded by this gene localizes to focal adhesions, regions of the plasma membrane where the cell attaches to the extracellular matrix. This protein crosslinks actin filaments and contains a Src homology 2 (SH2) domain, which is often found in molecules involved in signal transduction. This protein is a substrate of calpain II. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
TNS2	chr12	53046969	53064372	+	ENSG00000111077.17	protein_coding	C1-TEN|C1TEN|TENC1	12q13.13	tensin 2	The protein encoded by this gene belongs to the tensin family. Tensin is a focal adhesion molecule that binds to actin filaments and participates in signaling pathways. This protein plays a role in regulating cell migration. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
TNS3	chr7	47275154	47582558	-	ENSG00000136205.16	protein_coding	TEM6|TENS1	7p12.3	tensin 3	Ubiquitous expression in placenta (RPKM 15.0), lung (RPKM 14.4) and 25 other tissues
TNS4	chr17	40475828	40501597	-	ENSG00000131746.12	protein_coding	CTEN|PP14434	17q21.2	tensin 4	Biased expression in skin (RPKM 23.1), esophagus (RPKM 12.4) and 6 other tissues
TNXA	chr6	32008614	32012472	-	ENSG00000248290.1	unprocessed_pseudogene	D6S103E|HXBL|TNX|XA	6p21.33	tenascin XA (pseudogene)	-
TNXB	chr6	32041154	32115334	-	ENSG00000168477.17	protein_coding	EDS3|EDSCLL|EDSCLL1|HXBL|TENX|TN-X|TNX|TNXB1|TNXB2|TNXBS|VUR8|XB|XBS	6p21.33-p21.32	tenascin XB	This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5 and 3 ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
TOB1	chr17	50862223	50867978	-	ENSG00000141232.4	protein_coding	APRO5|APRO6|PIG49|TOB|TROB|TROB1	17q21.33	transducer of ERBB2, 1	This gene encodes a member of the transducer of erbB-2 /B-cell translocation gene protein family. Members of this family are anti-proliferative factors that have the potential to regulate cell growth. The encoded protein may function as a tumor suppressor. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
TOB1-AS1	chr17	50866679	50909737	+	ENSG00000229980.4	processed_transcript	-	17q21.33	TOB1 antisense RNA 1	-
TOB2	chr22	41433492	41447023	-	ENSG00000183864.4	protein_coding	APRO5|TOB4|TOBL|TROB2	22q13.2	transducer of ERBB2, 2	TOB2 belongs to the TOB (see TOB1; MIM 605523)/BTG1 (MIM 109580) family of antiproliferative proteins, which are involved in the regulation of cell cycle progression.[supplied by OMIM, Apr 2004]
TOB2P1	chr6	28217643	28218634	-	ENSG00000176933.5	processed_pseudogene	TOB2P|TOB4p|p373c6.3	6p22.1	transducer of ERBB2, 2 pseudogene 1	-
TOGARAM2	chr2	28956611	29061373	+	ENSG00000189350.12	protein_coding	FAM179A	2p23.2	TOG array regulator of axonemal microtubules 2	Broad expression in lung (RPKM 1.7), spleen (RPKM 1.2) and 19 other tissues
TOLLIP	chr11	1274371	1309654	-	ENSG00000078902.15	protein_coding	IL-1RAcPIP	11p15.5	toll interacting protein	This gene encodes a ubiquitin-binding protein that interacts with several Toll-like receptor (TLR) signaling cascade components. The encoded protein regulates inflammatory signaling and is involved in interleukin-1 receptor trafficking and in the turnover of IL1R-associated kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
TOM1	chr22	35299275	35347994	+	ENSG00000100284.20	protein_coding	IMD85	22q12.3	target of myb1 membrane trafficking protein	This gene was identified as a target of the v-myb oncogene. The encoded protein shares its N-terminal domain in common with proteins associated with vesicular trafficking at the endosome. It is recruited to the endosomes by its interaction with endofin. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
TOM1L1	chr17	54899387	54961956	+	ENSG00000141198.14	protein_coding	SRCASM	17q22	target of myb1 like 1 membrane trafficking protein	Broad expression in duodenum (RPKM 37.8), thyroid (RPKM 25.7) and 24 other tissues
TOM1L2	chr17	17843511	17972422	-	ENSG00000175662.17	protein_coding	-	17p11.2	target of myb1 like 2 membrane trafficking protein	Broad expression in heart (RPKM 43.2), brain (RPKM 27.4) and 23 other tissues
TOMM20	chr1	235109336	235128936	-	ENSG00000173726.10	protein_coding	MAS20|MOM19|TOM20	1q42.3	translocase of outer mitochondrial membrane 20	Ubiquitous expression in thyroid (RPKM 101.1), brain (RPKM 96.3) and 25 other tissues
TOMM20L	chr14	58395916	58408701	+	ENSG00000196860.7	protein_coding	UNQ9438	14q23.1	translocase of outer mitochondrial membrane 20 like	Note: July 18, 2008: Although this gene has been referred to as TIMM9, TIMM9 is a distinct locus, located in a head-head orientation to UNQ9438. [18 Jul 2008]
TOMM20P2	chr17	35514766	35515186	-	ENSG00000255987.1	processed_pseudogene	-	17q12	TOMM20 pseudogene 2	-
TOMM22	chr22	38681948	38685421	+	ENSG00000100216.5	protein_coding	1C9-2|MST065|MSTP065|TOM22	22q13.1	translocase of outer mitochondrial membrane 22	The protein encoded by this gene is an integral membrane protein of the mitochondrial outer membrane. The encoded protein interacts with TOMM20 and TOMM40, and forms a complex with several other proteins to import cytosolic preproteins into the mitochondrion. [provided by RefSeq, Jul 2008]
TOMM22P5	chr10	118643760	118644198	+	ENSG00000225155.4	processed_pseudogene	-	10q26.11	TOMM22 pseudogene 5	-
TOMM34	chr20	44942130	44960486	-	ENSG00000025772.7	protein_coding	HTOM34P|TOM34|URCC3	20q13.12	translocase of outer mitochondrial membrane 34	The protein encoded by this gene is involved in the import of precursor proteins into mitochondria. The encoded protein has a chaperone-like activity, binding the mature portion of unfolded proteins and aiding their import into mitochondria. This protein, which is found in the cytoplasm and sometimes associated with the outer mitochondrial membrane, has a weak ATPase activity and contains 6 TPR repeats. [provided by RefSeq, Jul 2008]
TOMM40	chr19	44890569	44903689	+	ENSG00000130204.12	protein_coding	C19orf1|D19S1177E|PER-EC1|PEREC1|TOM40	19q13.32	translocase of outer mitochondrial membrane 40	The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
TOMM40L	chr1	161225939	161230744	+	ENSG00000158882.14	protein_coding	TOMM40B	1q23.3	translocase of outer mitochondrial membrane 40 like	Ubiquitous expression in heart (RPKM 9.0), brain (RPKM 7.1) and 24 other tissues
TOMM5	chr9	37582646	37592642	-	ENSG00000175768.12	protein_coding	C9orf105|Tom5|bA613M10.3	9p13.2	translocase of outer mitochondrial membrane 5	Ubiquitous expression in kidney (RPKM 28.8), colon (RPKM 28.3) and 25 other tissues
TOMM6	chr6	41787662	41789898	+	ENSG00000214736.7	protein_coding	OBTP|TOM6	6p21.1	translocase of outer mitochondrial membrane 6	Predicted to be involved in protein transport. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
TOMM7	chr7	22812628	22822852	-	ENSG00000196683.10	protein_coding	TOM7	7p15.3	translocase of outer mitochondrial membrane 7	This gene encodes a subunit of the translocase of the outer mitochondrial membrane. The encoded protein regulates the assembly and stability of the translocase complex. [provided by RefSeq, Oct 2012]
TOMM70	chr3	100363431	100401398	-	ENSG00000154174.7	protein_coding	TOMM70A|Tom70	3q12.2	translocase of outer mitochondrial membrane 70	This gene encodes an import receptor of the outer mitochondrial membrane that is part of the translocase of the outer membrane complex. This protein is involved in the import of mitochondrial precursor proteins. [provided by RefSeq, Oct 2011]
TONSL	chr8	144428775	144444444	-	ENSG00000160949.16	protein_coding	IKBR|NFKBIL2|SEMDSP	8q24.3	tonsoku like, DNA repair protein	The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. [provided by RefSeq, Jul 2008]
TOP1	chr20	41028818	41124487	+	ENSG00000198900.5	protein_coding	TOPI	20q12	DNA topoisomerase I	This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus altering the topology of DNA. This gene is localized to chromosome 20 and has pseudogenes which reside on chromosomes 1 and 22. [provided by RefSeq, Jul 2008]
TOP1MT	chr8	143304384	143359979	-	ENSG00000184428.12	protein_coding	-	8q24.3	DNA topoisomerase I mitochondrial	Ubiquitous expression in ovary (RPKM 11.4), bone marrow (RPKM 11.1) and 25 other tissues
TOP2A	chr17	40388516	40417950	-	ENSG00000131747.14	protein_coding	TOP2|TOP2alpha|TOPIIA|TP2A	17q21.2	DNA topoisomerase II alpha	This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. [provided by RefSeq, Jul 2010]
TOP2B	chr3	25597905	25664907	-	ENSG00000077097.15	protein_coding	TOPIIB|top2beta	3p24.2	DNA topoisomerase II beta	This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
TOP3A	chr17	18271428	18315007	-	ENSG00000177302.14	protein_coding	MGRISCE2|PEOB5|TOP3|ZGRF7	17p11.2	DNA topoisomerase III alpha	This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus reducing the number of supercoils and altering the topology of DNA. This enzyme forms a complex with BLM which functions in the regulation of recombination in somatic cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
TOP3B	chr22	21957025	21982816	-	ENSG00000100038.19	protein_coding	TOP3B1	22q11.22	DNA topoisomerase III beta	This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This enzyme catalyzes the transient breaking and rejoining of a single strand of DNA which allows the strands to pass through one another, thus relaxing the supercoils and altering the topology of DNA. The enzyme interacts with DNA helicase SGS1 and plays a role in DNA recombination, cellular aging and maintenance of genome stability. Low expression of this gene may be related to higher survival rates in breast cancer patients. This gene has a pseudogene on chromosome 22. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Aug 2013]
TOP3BP1	chr22	22223187	22224566	-	ENSG00000228050.1	processed_pseudogene	TOP3B2	22q11.22	DNA topoisomerase III beta pseudogene 1	-
TOPORS	chr9	32540544	32552553	-	ENSG00000197579.7	protein_coding	LUN|P53BP3|RP31|TP53BPL	9p21.1	TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase	This gene encodes a nuclear protein which is serine and arginine rich, and contains a RING-type zinc finger domain. It is highly expressed in the testis, and functions as an ubiquitin-protein E3 ligase. Mutations in this gene are associated with retinitis pigmentosa type 31. Alternatively spliced transcript variants, encoding different isoforms, have been observed for this locus. [provided by RefSeq, Sep 2010]
TOR1A	chr9	129812944	129824134	-	ENSG00000136827.11	protein_coding	AMC5|DQ2|DYT1	9q34.11	torsin family 1 member A	The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]
TOR1AIP1	chr1	179882042	179925000	+	ENSG00000143337.18	protein_coding	LAP1|LAP1B|LAP1C|LGMD2Y	1q25.2	torsin 1A interacting protein 1	This gene encodes a type 2 integral membrane protein that binds A- and B-type lamins. The encoded protein localizes to the inner nuclear membrane and may be involved in maintaining the attachment of the nuclear membrane to the nuclear lamina during cell division. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2016]
TOR1AIP2	chr1	179839967	179877803	-	ENSG00000169905.12	protein_coding	IFRG15|LULL1|NET9	1q25.2	torsin 1A interacting protein 2	One of the two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA, regulating the amount of TorsinA present in the ER compared to that found in the nuclear envelope. Defects in this protein are a cause of early onset primary dystonia, a neuromuscular disease. The other isoform encoded by this gene is an interferon alpha responsive protein whose cellular role has yet to be determined. [provided by RefSeq, Mar 2017]
TOR1B	chr9	129803153	129811281	+	ENSG00000136816.15	protein_coding	DQ1	9q34.11	torsin family 1 member B	The protein encoded by this gene is an ATPase found primarily in the endoplasmic reticulum and nuclear envelope. This gene has a highly-similar neighboring gene, TOR1A, that encodes a protein that is likely to interact in a complex with this protein. Finally, this protein may act as a chaperone and play a role in maintaining the integrity of the nuclear envelope and endoplasmic reticulum. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]
TOR4A	chr9	137277749	137282641	+	ENSG00000198113.2	protein_coding	C9orf167	9q34.3	torsin family 4 member A	Broad expression in colon (RPKM 8.8), stomach (RPKM 6.8) and 22 other tissues
TOX	chr8	58805418	59119208	-	ENSG00000198846.5	protein_coding	TOX1	8q12.1	thymocyte selection associated high mobility group box	The protein encoded by this gene contains a HMG box DNA binding domain. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. This protein may function to regulate T-cell development.[provided by RefSeq, Apr 2009]
TOX2	chr20	43914864	44069616	+	ENSG00000124191.17	protein_coding	C20orf100|GCX-1|GCX1|dJ1108D11.2|dJ495O3.1	20q13.12	TOX high mobility group box family member 2	Broad expression in testis (RPKM 5.3), lymph node (RPKM 4.6) and 21 other tissues
TOX3	chr16	52438005	52547802	-	ENSG00000103460.16	protein_coding	CAGF9|TNRC9	16q12.1	TOX high mobility group box family member 3	The protein encoded by this gene contains an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been implicated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009]
TOX4	chr14	21476597	21499175	+	ENSG00000092203.13	protein_coding	C14orf92|KIAA0737|LCP1|MIG7	14q11.2	TOX high mobility group box family member 4	-
TP53	chr17	7661779	7687550	-	ENSG00000141510.16	protein_coding	BCC7|BMFS5|LFS1|P53|TRP53	17p13.1	tumor protein p53	This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]
TP53AIP1	chr11	128934731	128943399	-	ENSG00000120471.15	protein_coding	P53AIP1	11q24.3	tumor protein p53 regulated apoptosis inducing protein 1	This gene is specifically expressed in the thymus, and encodes a protein that is localized to the mitochondrion. The expression of this gene is inducible by p53, and it is thought to play an important role in mediating p53-dependent apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
TP53BP1	chr15	43403061	43510728	-	ENSG00000067369.13	protein_coding	53BP1|TDRD30|p202|p53BP1	15q15.3	tumor protein p53 binding protein 1	This gene encodes a protein that functions in the DNA double-strand break repair pathway choice, promoting non-homologous end joining (NHEJ) pathways, and limiting homologous recombination. This protein plays multiple roles in the DNA damage response, including promoting checkpoint signaling following DNA damage, acting as a scaffold for recruitment of DNA damage response proteins to damaged chromatin, and promoting NHEJ pathways by limiting end resection following a double-strand break. These roles are also important during V(D)J recombination, class switch recombination and at unprotected telomeres. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]
TP53BP2	chr1	223779899	223845972	-	ENSG00000143514.16	protein_coding	53BP2|ASPP2|BBP|P53BP2|PPP1R13A	1q41	tumor protein p53 binding protein 2	This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
TP53I11	chr11	44885903	44951306	-	ENSG00000175274.18	protein_coding	PIG11	11p11.2	tumor protein p53 inducible protein 11	Ubiquitous expression in lung (RPKM 12.0), fat (RPKM 11.2) and 25 other tissues
TP53I13	chr17	29566052	29573157	+	ENSG00000167543.15	protein_coding	DSCP1	17q11.2	tumor protein p53 inducible protein 13	Ubiquitous expression in fat (RPKM 17.1), spleen (RPKM 12.9) and 25 other tissues
TP53I3	chr2	24077433	24085861	-	ENSG00000115129.13	protein_coding	PIG3	2p23.3	tumor protein p53 inducible protein 3	The protein encoded by this gene is similar to oxidoreductases, which are enzymes involved in cellular responses to oxidative stresses and irradiation. This gene is induced by the tumor suppressor p53 and is thought to be involved in p53-mediated cell death. It contains a p53 consensus binding site in its promoter region and a downstream pentanucleotide microsatellite sequence. P53 has been shown to transcriptionally activate this gene by interacting with the downstream pentanucleotide microsatellite sequence. The microsatellite is polymorphic, with a varying number of pentanucleotide repeats directly correlated with the extent of transcriptional activation by p53. It has been suggested that the microsatellite polymorphism may be associated with differential susceptibility to cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
TP53INP1	chr8	94925972	94949411	-	ENSG00000164938.13	protein_coding	SIP|TP53DINP1|TP53INP1A|TP53INP1B|Teap|p53DINP1	8q22.1	tumor protein p53 inducible nuclear protein 1	Ubiquitous expression in liver (RPKM 25.0), testis (RPKM 21.8) and 25 other tissues
TP53INP2	chr20	34704290	34713439	+	ENSG00000078804.12	protein_coding	C20orf110|DOR|PIG-U|PIGU|PINH|dJ1181N3.1	20q11.22	tumor protein p53 inducible nuclear protein 2	The protein encoded by this gene promotes autophagy and is essential for proper autophagosome formation and processing. In addition, the encoded protein can enhance rDNA transcription by helping in the assembly of the POLR1/RNA polymerase I preinitiation complex. Finally, this protein serves as a transcriptional activator for some genes. [provided by RefSeq, Jul 2016]
TP53RK	chr20	46684365	46689779	-	ENSG00000172315.5	protein_coding	BUD32|C20orf64|GAMOS4|Nori-2|Nori-2p|PRPK|TPRKB|dJ101A2	20q13.12	TP53 regulating kinase	Ubiquitous expression in lymph node (RPKM 5.4), thyroid (RPKM 5.0) and 25 other tissues
TP53TG5	chr20	45372563	45407889	-	ENSG00000124251.10	protein_coding	C20orf10|CLG01	20q13.12	TP53 target 5	Biased expression in testis (RPKM 14.6) and brain (RPKM 1.1)
TP63	chr3	189631416	189897279	+	ENSG00000073282.12	protein_coding	AIS|B(p51A)|B(p51B)|EEC3|KET|LMS|NBP|OFC8|RHS|SHFM4|TP53CP|TP53L|TP73L|p40|p51|p53CP|p63|p73H|p73L	3q28	tumor protein p63	This gene encodes a member of the p53 family of transcription factors. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding domain and an oligomerization domain. Alternative splicing of this gene and the use of alternative promoters results in multiple transcript variants encoding different isoforms that vary in their functional properties. These isoforms function during skin development and maintenance, adult stem/progenitor cell regulation, heart development and premature aging. Some isoforms have been found to protect the germline by eliminating oocytes or testicular germ cells that have suffered DNA damage. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. [provided by RefSeq, Aug 2016]
TP73	chr1	3652520	3736201	+	ENSG00000078900.14	protein_coding	CILD47|P73	1p36.32	tumor protein p73	This gene encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It maps to a region on chromosome 1p36 that is frequently deleted in neuroblastoma and other tumors, and thought to contain multiple tumor suppressor genes. The demonstration that this gene is monoallelically expressed (likely from the maternal allele), supports the notion that it is a candidate gene for neuroblastoma. Many transcript variants resulting from alternative splicing and/or use of alternate promoters have been found for this gene, but the biological validity and the full-length nature of some variants have not been determined. [provided by RefSeq, Feb 2011]
TP73-AS1	chr1	3735601	3747336	-	ENSG00000227372.11	transcribed_unitary_pseudogene	KIAA0495|PDAM	1p36.32	TP73 antisense RNA 1	Ubiquitous expression in testis (RPKM 8.0), ovary (RPKM 7.3) and 25 other tissues
TPBG	chr6	82363206	82370828	+	ENSG00000146242.8	protein_coding	5T4|5T4AG|M6P1|WAIF1	6q14.1	trophoblast glycoprotein	This gene encodes a leucine-rich transmembrane glycoprotein that may be involved in cell adhesion. The encoded protein is an oncofetal antigen that is specific to trophoblast cells. In adults this protein is highly expressed in many tumor cells and is associated with poor clinical outcome in numerous cancers. Alternate splicing in the 5 UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009]
TPCN1	chr12	113221050	113298585	+	ENSG00000186815.12	protein_coding	TPC1	12q24.13	two pore segment channel 1	Voltage-gated Ca(2+) and Na+ channels have 4 homologous domains, each containing 6 transmembrane segments, S1 to S6. TPCN1 is similar to these channels, but it has only 2 domains containing S1 to S6 (Ishibashi et al., 2000 [PubMed 10753632]).[supplied by OMIM, Mar 2008]
TPCN2	chr11	69048897	69162440	+	ENSG00000162341.16	protein_coding	SHEP10|TPC2	11q13.3	two pore segment channel 2	This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation.[provided by RefSeq, Dec 2009]
TPD52	chr8	80034745	80231232	-	ENSG00000076554.15	protein_coding	D52|N8L|PC-1|PrLZ|hD52	8q21.13	tumor protein D52	Broad expression in colon (RPKM 43.8), prostate (RPKM 36.3) and 23 other tissues
TPD52L1	chr6	125119049	125264407	+	ENSG00000111907.20	protein_coding	D53|TPD53	6q22.31	TPD52 like 1	This gene encodes a member of a family of proteins that contain coiled-coil domains and may form hetero- or homomers. The encoded protein is involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed. [provided by RefSeq, Jan 2016]
TPD52L2	chr20	63865228	63891545	+	ENSG00000101150.17	protein_coding	D54|TPD54	20q13.33	TPD52 like 2	This gene encodes a member of the tumor protein D52-like family. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. Expression of this gene may be a marker for breast cancer and acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 12. [provided by RefSeq, Aug 2011]
TPGS2	chr18	36777647	36829216	-	ENSG00000134779.14	protein_coding	C18orf10|HMFN0601|L17|PGs2	18q12.2	tubulin polyglutamylase complex subunit 2	This gene encodes a protein that is a component of the neuronal polyglutamylase complex, which plays a role in post-translational addition of glutamate residues to C-terminal tubulin tails. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]
TPH1	chr11	18017564	18042426	-	ENSG00000129167.9	protein_coding	TPRH|TRPH	11p15.1	tryptophan hydroxylase 1	This gene encodes a member of the aromatic amino acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene have been associated with an elevated risk for a variety of diseases and disorders, including schizophrenia, somatic anxiety, anger-related traits, bipolar disorder, suicidal behavior, addictions, and others.[provided by RefSeq, Apr 2009]
TPI1P2	chr7	129055223	129057239	+	ENSG00000230359.5	transcribed_processed_pseudogene	-	7q32.1	triosephosphate isomerase 1 pseudogene 2	-
TPK1	chr7	144451941	144836395	-	ENSG00000196511.14	protein_coding	HTPK1|PP20|THMD5	7q35	thiamin pyrophosphokinase 1	The protein encoded by this gene functions as a homodimer and catalyzes the conversion of thiamine to thiamine pyrophosphate, a cofactor for some enzymes of the glycolytic and energy production pathways. Defects in this gene are a cause of thiamine metabolism dysfunction syndrome-5. [provided by RefSeq, Apr 2017]
TPM1	chr15	63042632	63071915	+	ENSG00000140416.19	protein_coding	C15orf13|CMD1Y|CMH3|HEL-S-265|HTM-alpha|LVNC9|TMSA	15q22.2	tropomyosin 1	This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
TPM2	chr9	35681992	35691020	-	ENSG00000198467.13	protein_coding	AMCD1|DA1|DA2B|DA2B4|HEL-S-273|NEM4|TMSB	9p13.3	tropomyosin 2	This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
TPM3	chr1	154155304	154194648	-	ENSG00000143549.19	protein_coding	CAPM1|CFTD|HEL-189|HEL-S-82p|NEM1|OK/SW-cl.5|TM-5|TM3|TM30|TM30nm|TM5|TPM3nu|TPMsk3|TRK|hscp30	1q21.3	tropomyosin 3	This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
TPM3P6	chr19	53479350	53480091	+	ENSG00000250731.1	processed_pseudogene	-	19q13.42	tropomyosin 3 pseudogene 6	-
TPM4	chr19	16067021	16103005	+	ENSG00000167460.14	protein_coding	HEL-S-108	19p13.12-p13.11	tropomyosin 4	This gene encodes a member of the tropomyosin family of actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosins are dimers of coiled-coil proteins that polymerize end-to-end along the major groove in most actin filaments. They provide stability to the filaments and regulate access of other actin-binding proteins. In muscle cells, they regulate muscle contraction by controlling the binding of myosin heads to the actin filament. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2009]
TPMT	chr6	18128311	18155074	-	ENSG00000137364.4	protein_coding	TPMTD	6p22.3	thiopurine S-methyltransferase	This gene encodes the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals, causing thiopurine S-methyltransferase deficiency. Related pseudogenes have been identified on chromosomes 3, 18 and X. [provided by RefSeq, Aug 2014]
TPO	chr2	1374223	1543711	+	ENSG00000115705.20	protein_coding	MSA|TDH2A|TPX	2p25.3	thyroid peroxidase	This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011]
TPP1	chr11	6612763	6619461	-	ENSG00000166340.15	protein_coding	CLN2|GIG1|LPIC|SCAR7|TPP-1	11p15.4	tripeptidyl peptidase 1	This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul 2008]
TPP2	chr13	102597003	102679958	+	ENSG00000134900.11	protein_coding	IMD78|TPP-2|TPP-II|TPPII	13q33.1	tripeptidyl peptidase 2	This gene encodes a mammalian peptidase that, at neutral pH, removes tripeptides from the N terminus of longer peptides. The protein has a specialized function that is essential for some MHC class I antigen presentation. The protein is a high molecular mass serine exopeptidase; the amino acid sequence surrounding the serine residue at the active site is similar to the peptidases of the subtilisin class rather than the trypsin class. [provided by RefSeq, Jul 2008]
TPPP	chr5	659862	693395	-	ENSG00000171368.11	protein_coding	TPPP/p25|TPPP1|p24|p25|p25alpha	5p15.33	tubulin polymerization promoting protein	Biased expression in brain (RPKM 45.7), lung (RPKM 7.7) and 9 other tissues
TPPP3	chr16	67389809	67393535	-	ENSG00000159713.10	protein_coding	CGI-38|TPPP/p20|p20|p25gamma	16q22.1	tubulin polymerization promoting protein family member 3	Broad expression in lung (RPKM 89.8), placenta (RPKM 51.0) and 18 other tissues
TPRA1	chr3	127573069	127598251	-	ENSG00000163870.14	protein_coding	GPR175|TMEM227|TPRA40	3q21.3	transmembrane protein adipocyte associated 1	Ubiquitous expression in placenta (RPKM 7.3), endometrium (RPKM 6.7) and 25 other tissues
TPRG1	chr3	188947214	189325304	+	ENSG00000188001.9	protein_coding	FAM79B	3q28	tumor protein p63 regulated 1	Biased expression in esophagus (RPKM 2.6), skin (RPKM 1.9) and 7 other tissues
TPRG1L	chr1	3625002	3630127	+	ENSG00000158109.14	protein_coding	FAM79A|h-mover|mover	1p36.32	tumor protein p63 regulated 1 like	Ubiquitous expression in brain (RPKM 35.5), kidney (RPKM 30.0) and 25 other tissues
TPRKB	chr2	73729104	73737400	-	ENSG00000144034.14	protein_coding	CGI-121|CGI121|GAMOS5	2p13.1	TP53RK binding protein	Ubiquitous expression in testis (RPKM 8.1), colon (RPKM 6.1) and 25 other tissues
TPRXL	chr3	13937273	14082811	+	ENSG00000180438.15	transcribed_processed_pseudogene	TPRX3P	3p25.1	tetrapeptide repeat homeobox like (pseudogene)	Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008]
TPSAB1	chr16	1240696	1242554	+	ENSG00000172236.16	protein_coding	TPS1|TPS2|TPSB1|TPSB2|Tryptase-2	16p13.3	tryptase alpha/beta 1	Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3 UTR and contain tandem repeat sequences at the 5 flank and 3 UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, alpha and beta 1. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]
TPSB2	chr16	1227272	1230184	-	ENSG00000197253.13	protein_coding	TPS2|tryptaseB|tryptaseC	16p13.3	tryptase beta 2	Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3 UTR and contain tandem repeat sequences at the 5 flank and 3 UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, beta II and beta III. Beta tryptases appear to be the main isoenzymes expressed in mast cells, whereas in basophils, alpha-tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]
TPSD1	chr16	1256059	1258998	+	ENSG00000095917.13	protein_coding	MCP7-LIKE|MCP7L1|MMCP-7L	16p13.3	tryptase delta 1	Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3 UTR and contain tandem repeat sequences at the 5 flank and 3 UTR which are thought to play a role in regulation of the mRNA stability. Although this gene may be an exception, most of the tryptase genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. This gene was once considered to be a pseudogene, although it is now believed to be a functional gene that encodes a protein. [provided by RefSeq, Jul 2008]
TPSG1	chr16	1221651	1225257	-	ENSG00000116176.6	protein_coding	PRSS31|TMT|trpA	16p13.3	tryptase gamma 1	Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. There is uncertainty regarding the number of genes in this cluster. Currently four functional genes - alpha I, beta I, beta II and gamma I - have been identified. And beta I has an allelic variant named alpha II, beta II has an allelic variant beta III, also gamma I has an allelic variant gamma II. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha-tryptases predominant. This gene differs from other members of the tryptase gene family in that it has C-terminal hydrophobic domain, which may serve as a membrane anchor. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]
TPSP2	chr16	1286351	1288837	-	ENSG00000260284.1	unprocessed_pseudogene	-	16p13.3	tryptase pseudogene 2	-
TPST1	chr7	66205199	66420543	+	ENSG00000169902.13	protein_coding	TANGO13A	7q11.21	tyrosylprotein sulfotransferase 1	Broad expression in gall bladder (RPKM 13.2), urinary bladder (RPKM 9.5) and 22 other tissues
TPST2	chr22	26521983	26596717	-	ENSG00000128294.15	protein_coding	TANGO13B|TPST-2	22q12.1	tyrosylprotein sulfotransferase 2	The protein encoded by this gene catalyzes the O-sulfation of tyrosine residues within acidic regions of proteins. The encoded protein is a type II integral membrane protein found in the Golgi body. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2018]
TPT1	chr13	45333471	45341370	-	ENSG00000133112.16	protein_coding	HRF|TCTP|p02|p23	13q14.13	tumor protein, translationally-controlled 1	This gene encodes a protein that is a regulator of cellular growth and proliferation. Its mRNA is highly structured and contains an oligopyrimidine tract (5-TOP) in its 5 untranslated region that functions to repress its translation under quiescent conditions. The encoded protein is involved in a variety of cellular pathways, including apoptosis, protein synthesis and cell division. It binds to and stabilizes microtubules, and removal of this protein through phosphorylation is required for progression through mitotic and meiotic cell divisions. This gene is known to play a role in carcinogenesis, and is upregulated in some cancer cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]
TPTE2	chr13	19422877	19536762	-	ENSG00000132958.17	protein_coding	TPIP	13q12.11	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	TPIP is a member of a large class of membrane-associated phosphatases with substrate specificity for the 3-position phosphate of inositol phospholipids.[supplied by OMIM, Jul 2002]
TPTE2P1	chr13	24924677	24968487	-	ENSG00000253771.5	transcribed_unprocessed_pseudogene	-	13q12.13	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1	-
TPTE2P5	chr13	40822296	40921749	-	ENSG00000168852.12	transcribed_unprocessed_pseudogene	-	13q14.11	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 5	-
TPX2	chr20	31739271	31801805	+	ENSG00000088325.15	protein_coding	C20orf1|C20orf2|DIL-2|DIL2|FLS353|GD:C20orf1|HCA519|HCTP4|REPP86|p100	20q11.21	TPX2 microtubule nucleation factor	Broad expression in testis (RPKM 19.8), bone marrow (RPKM 18.0) and 16 other tissues
TRA2A	chr7	23504780	23532041	-	ENSG00000164548.10	protein_coding	AWMS1|HSU53209	7p15.3	transformer 2 alpha homolog	This gene is a member of the transformer 2 homolog family and encodes a protein with several RRM (RNA recognition motif) domains. This phosphorylated nuclear protein binds to specific RNA sequences and plays a role in the regulation of pre-mRNA splicing. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
TRABD	chr22	50185915	50199598	+	ENSG00000170638.9	protein_coding	LP6054|PP2447	22q13.33	TraB domain containing	Ubiquitous expression in bone marrow (RPKM 19.6), spleen (RPKM 13.4) and 25 other tissues
TRABD2B	chr1	47760528	47996895	-	ENSG00000269113.3	protein_coding	TIKI2	1p33	TraB domain containing 2B	Broad expression in kidney (RPKM 3.6), gall bladder (RPKM 0.8) and 16 other tissues
TRADD	chr16	67154180	67160298	-	ENSG00000102871.15	protein_coding	Hs.89862	16q22.1	TNFRSF1A associated via death domain	The protein encoded by this gene is a death domain containing adaptor molecule that interacts with TNFRSF1A/TNFR1 and mediates programmed cell death signaling and NF-kappaB activation. This protein binds adaptor protein TRAF2, reduces the recruitment of inhibitor-of-apoptosis proteins (IAPs) by TRAF2, and thus suppresses TRAF2 mediated apoptosis. This protein can also interact with receptor TNFRSF6/FAS and adaptor protein FADD/MORT1, and is involved in the Fas-induced cell death pathway. [provided by RefSeq, Jul 2008]
TRAF1	chr9	120902393	120929173	-	ENSG00000056558.10	protein_coding	EBI6|MGC:10353	9q33.2	TNF receptor associated factor 1	The protein encoded by this gene is a member of the TNF receptor (TNFR) associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from various receptors of the TNFR superfamily. This protein and TRAF2 form a heterodimeric complex, which is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF2 also interacts with inhibitor-of-apoptosis proteins (IAPs), and thus mediates the anti-apoptotic signals from TNF receptors. The expression of this protein can be induced by Epstein-Barr virus (EBV). EBV infection membrane protein 1 (LMP1) is found to interact with this and other TRAF proteins; this interaction is thought to link LMP1-mediated B lymphocyte transformation to the signal transduction from TNFR family receptors. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
TRAF2	chr9	136881912	136926607	+	ENSG00000127191.17	protein_coding	MGC:45012|RNF117|TRAP|TRAP3	9q34.3	TNF receptor associated factor 2	The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from members of the TNF receptor superfamily. This protein directly interacts with TNF receptors, and forms a heterodimeric complex with TRAF1. This protein is required for TNF-alpha-mediated activation of MAPK8/JNK and NF-kappaB. The protein complex formed by this protein and TRAF1 interacts with the inhibitor-of-apoptosis proteins (IAPs), and functions as a mediator of the anti-apoptotic signals from TNF receptors. The interaction of this protein with TRADD, a TNF receptor associated apoptotic signal transducer, ensures the recruitment of IAPs for the direct inhibition of caspase activation. BIRC2/c-IAP1, an apoptosis inhibitor possessing ubiquitin ligase activity, can unbiquitinate and induce the degradation of this protein, and thus potentiate TNF-induced apoptosis. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of only one transcript has been determined. [provided by RefSeq, Jul 2008]
TRAF3	chr14	102777476	102911500	+	ENSG00000131323.14	protein_coding	CAP-1|CAP1|CD40bp|CRAF1|IIAE5|LAP1|RNF118	14q32.32	TNF receptor associated factor 3	The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins associate with, and mediate the signal transduction from, members of the TNF receptor (TNFR) superfamily. This protein participates in the signal transduction of CD40, a TNFR family member important for the activation of the immune response. This protein is found to be a critical component of the lymphotoxin-beta receptor (LTbetaR) signaling complex, which induces NF-kappaB activation and cell death initiated by LTbeta ligation. Epstein-Barr virus encoded latent infection membrane protein-1 (LMP1) can interact with this and several other members of the TRAF family, which may be essential for the oncogenic effects of LMP1. The protein also plays a role in the regulation of antiviral response. Mutations in this are associated with Encephalopathy, acute, infection-induced, herpes-specific 5. [provided by RefSeq, Jul 2020]
TRAF3IP1	chr2	238320441	238400900	+	ENSG00000204104.11	protein_coding	FAP116|IFT54|MIP-T3|MIPT3|SLSN9	2q37.3	TRAF3 interacting protein 1	The protein encoded by this gene interacts with TNF receptor-associated factor 3, tethering it to cytoskeletal microtubules. The encoded protein is also an inhibitor of the innate type I IFN response. Defects in this gene are a cause of Senior-Loken syndrome 9. [provided by RefSeq, Mar 2017]
TRAF3IP2	chr6	111556454	111606278	-	ENSG00000056972.18	protein_coding	ACT1|C6orf2|C6orf4|C6orf5|C6orf6|CANDF8|CIKS|PSORS13	6q21	TRAF3 interacting protein 2	This gene encodes a protein involved in regulating responses to cytokines by members of the Rel/NF-kappaB transcription factor family. These factors play a central role in innate immunity in response to pathogens, inflammatory signals and stress. This gene product interacts with TRAF proteins (tumor necrosis factor receptor-associated factors) and either I-kappaB kinase or MAP kinase to activate either NF-kappaB or Jun kinase. Several alternative transcripts encoding different isoforms have been identified. Another transcript, which does not encode a protein and is transcribed in the opposite orientation, has been identified. Overexpression of this transcript has been shown to reduce expression of at least one of the protein encoding transcripts, suggesting it has a regulatory role in the expression of this gene. [provided by RefSeq, Aug 2009]
TRAF3IP2-AS1	chr6	111483511	111598302	+	ENSG00000231889.7	antisense	BetaFAAR|C6UAS|C6orf3|NCRNA00248|TRAF3IP2-AS2	6q21	TRAF3IP2 antisense RNA 1	Ubiquitous expression in brain (RPKM 2.1), endometrium (RPKM 1.3) and 23 other tissues
TRAF3IP3	chr1	209756032	209782320	+	ENSG00000009790.14	protein_coding	T3JAM	1q32.2	TRAF3 interacting protein 3	The gene encodes a protein that mediates cell growth by modulating the c-Jun N-terminal kinase signal transduction pathway. The encoded protein may also interact with a large multi-protein assembly containing the phosphatase 2A catalytic subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
TRAF4	chr17	28743984	28750958	+	ENSG00000076604.14	protein_coding	CART1|MLN62|RNF83	17q11.2	TNF receptor associated factor 4	This gene encodes a member of the TNF receptor associated factor (TRAF) family. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. The encoded protein has been shown to interact with neurotrophin receptor, p75 (NTR/NTSR1), and negatively regulate NTR induced cell death and NF-kappa B activation. This protein has been found to bind to p47phox, a cytosolic regulatory factor included in a multi-protein complex known as NAD(P)H oxidase. This protein thus, is thought to be involved in the oxidative activation of MAPK8/JNK. Alternatively spliced transcript variants have been observed but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
TRAF5	chr1	211326615	211374946	+	ENSG00000082512.14	protein_coding	MGC:39780|RNF84	1q32.3	TNF receptor associated factor 5	The scaffold protein encoded by this gene is a member of the tumor necrosis factor receptor-associated factor (TRAF) protein family and contains a meprin and TRAF homology (MATH) domain, a RING-type zinc finger, and two TRAF-type zinc fingers. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. This protein is one of the components of a multiple protein complex which binds to tumor necrosis factor (TNF) receptor cytoplasmic domains and mediates TNF-induced activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
TRAF6	chr11	36487027	36510272	-	ENSG00000175104.14	protein_coding	MGC:3310|RNF85	11p12	TNF receptor associated factor 6	The protein encoded by this gene is a member of the TNF receptor associated factor (TRAF) protein family. TRAF proteins are associated with, and mediate signal transduction from, members of the TNF receptor superfamily. This protein mediates signaling from members of the TNF receptor superfamily as well as the Toll/IL-1 family. Signals from receptors such as CD40, TNFSF11/RANCE and IL-1 have been shown to be mediated by this protein. This protein also interacts with various protein kinases including IRAK1/IRAK, SRC and PKCzeta, which provides a link between distinct signaling pathways. This protein functions as a signal transducer in the NF-kappaB pathway that activates IkappaB kinase (IKK) in response to proinflammatory cytokines. The interaction of this protein with UBE2N/UBC13, and UBE2V1/UEV1A, which are ubiquitin conjugating enzymes catalyzing the formation of polyubiquitin chains, has been found to be required for IKK activation by this protein. This protein also interacts with the transforming growth factor (TGF) beta receptor complex and is required for Smad-independent activation of the JNK and p38 kinases. This protein has an amino terminal RING domain which is followed by four zinc-finger motifs, a central coiled-coil region and a highly conserved carboxyl terminal domain, known as the TRAF-C domain. Two alternatively spliced transcript variants, encoding an identical protein, have been reported. [provided by RefSeq, Feb 2012]
TRAF7	chr16	2155698	2178129	+	ENSG00000131653.12	protein_coding	CAFDADD|RFWD1|RNF119	16p13.3	TNF receptor associated factor 7	Tumor necrosis factor (TNF; see MIM 191160) receptor-associated factors, such as TRAF7, are signal transducers for members of the TNF receptor superfamily (see MIM 191190). TRAFs are composed of an N-terminal cysteine/histidine-rich region containing zinc RING and/or zinc finger motifs; a coiled-coil (leucine zipper) motif; and a homologous region that defines the TRAF family, the TRAF domain, which is involved in self-association and receptor binding.[supplied by OMIM, Apr 2004]
TRAFD1	chr12	112125501	112153609	+	ENSG00000135148.11	protein_coding	FLN29	12q24.13	TRAF-type zinc finger domain containing 1	The innate immune system confers host defense against viral and microbial infection, and TRAFD1 is a negative feedback regulator that controls excessive immune responses (Sanada et al., 2008 [PubMed 18849341]).[supplied by OMIM, Dec 2009]
TRAIP	chr3	49828599	49856574	-	ENSG00000183763.8	protein_coding	RNF206|SCKL9|TRIP	3p21.31	TRAF interacting protein	This gene encodes a protein that contains an N-terminal RING finger motif and a putative coiled-coil domain. A similar murine protein interacts with TNFR-associated factor 1 (TRAF1), TNFR-associated factor 2 (TRAF2), and cylindromatosis. The interaction with TRAF2 inhibits TRAF2-mediated nuclear factor kappa-B, subunit 1 activation that is required for cell activation and protection against apoptosis. [provided by RefSeq, Jul 2008]
TRAK1	chr3	42013802	42225889	+	ENSG00000182606.14	protein_coding	DEE68|EIEE68|MILT1|OIP106	3p22.1	trafficking kinesin protein 1	Ubiquitous expression in heart (RPKM 17.5), stomach (RPKM 12.1) and 24 other tissues
TRAK2	chr2	201377207	201451579	-	ENSG00000115993.12	protein_coding	ALS2CR3|CALS-C|GRIF-1|GRIF1|MILT2|OIP98	2q33.1	trafficking kinesin protein 2	Ubiquitous expression in heart (RPKM 26.1), thyroid (RPKM 23.5) and 25 other tissues
TRAM1	chr8	70573442	70608387	-	ENSG00000067167.7	protein_coding	PNAS8|TRAM|TRAMP	8q13.3	translocation associated membrane protein 1	This gene encodes a multi-pass membrane protein that is part of the mammalian endoplasmic reticulum. The encoded protein influences glycosylation and facilitates the translocation of secretory proteins across the endoplasmic reticulum membrane by regulating which domains of the nascent polypeptide chain are visible to the cytosol during a translocational pause. [provided by RefSeq, Oct 2009]
TRAM2	chr6	52497402	52576915	-	ENSG00000065308.4	protein_coding	-	6p12.2	translocation associated membrane protein 2	Broad expression in placenta (RPKM 12.1), testis (RPKM 6.9) and 23 other tissues
TRAM2-AS1	chr6	52577307	52583993	+	ENSG00000225791.6	lincRNA	-	6p12.2	TRAM2 antisense RNA 1 (head to head)	-
TRANK1	chr3	36826820	36945057	-	ENSG00000168016.13	protein_coding	LBA1	3p22.2	tetratricopeptide repeat and ankyrin repeat containing 1	Ubiquitous expression in endometrium (RPKM 7.0), lymph node (RPKM 6.9) and 24 other tissues
TRAP1	chr16	3651639	3717597	-	ENSG00000126602.10	protein_coding	HSP 75|HSP75|HSP90L|TRAP-1	16p13.3	TNF receptor associated protein 1	This gene encodes a mitochondrial chaperone protein that is member of the heat shock protein 90 (HSP90) family. The encoded protein has ATPase activity and interacts with tumor necrosis factor type I. This protein may function in regulating cellular stress responses. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
TRAPPC1	chr17	7930345	7932123	-	ENSG00000170043.11	protein_coding	BET5|MUM2	17p13.1	trafficking protein particle complex subunit 1	This gene product plays a role in vesicular transport of proteins to the Golgi apparatus from the endoplasmic reticulum. The encoded protein is a component of the multisubunit transport protein particle (TRAPP) complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
TRAPPC10	chr21	44012319	44106552	+	ENSG00000160218.12	protein_coding	EHOC-1|EHOC1|GT334|TMEM1|TRS130|TRS30	21q22.3	trafficking protein particle complex subunit 10	The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008]
TRAPPC11	chr4	183659267	183713594	+	ENSG00000168538.15	protein_coding	C4orf41|FOIGR|GRY|LGMD2S|LGMDR18	4q35.1	trafficking protein particle complex subunit 11	The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013]
TRAPPC12	chr2	3379675	3485094	+	ENSG00000171853.15	protein_coding	CGI-87|PEBAS|TTC-15|TTC15	2p25.3	trafficking protein particle complex subunit 12	Ubiquitous expression in testis (RPKM 6.2), brain (RPKM 2.7) and 25 other tissues
TRAPPC12-AS1	chr2	3481242	3482409	-	ENSG00000225234.1	antisense	-	2p25.3	TRAPPC12 antisense RNA 1	-
TRAPPC13	chr5	65624716	65666233	+	ENSG00000113597.17	protein_coding	C5orf44|SHLD3	5q12.3	trafficking protein particle complex subunit 13	Ubiquitous expression in prostate (RPKM 7.6), thyroid (RPKM 6.9) and 25 other tissues
TRAPPC14	chr7	 100154423	100158723	-	ENSG00000146826	protein-coding	C7orf43|MAP11|MCPH25	7q22.1	trafficking protein particle complex subunit 14	-
TRAPPC2B	chr19	57363511	57365353	+	ENSG00000256060.2	protein_coding	MIP-2A|SEDLP|SEDLP1|TRAPPC2P1	19q13.43	trafficking protein particle complex subunit 2B	Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport. Located in endoplasmic reticulum and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
TRAPPC2L	chr16	88856220	88862686	+	ENSG00000167515.10	protein_coding	HSPC176|PERRB	16q24.3	trafficking protein particle complex subunit 2L	This gene encodes a protein that interacts with the tethering factor trafficking protein particle (TRAPP complex). TRAPP complexes mediate the contact between vescicles and target membranes, and thus, are involved in vescicle-mediated transport of proteins and lipids. The encoded protein is related to the X-linked trafficking protein particle complex 2. A related pseudogene is located on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
TRAPPC3	chr1	36136570	36156053	-	ENSG00000054116.11	protein_coding	BET3	1p34.3	trafficking protein particle complex subunit 3	This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. The encoded protein participates in the regulation of transport from the endoplasmic reticulum to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
TRAPPC4	chr11	119018432	119025454	+	ENSG00000196655.11	protein_coding	CGI-104|HSPC172|NEDESBA|PTD009|SBDN|SYNBINDIN|TRS23	11q23.3	trafficking protein particle complex subunit 4	Ubiquitous expression in testis (RPKM 25.2), adrenal (RPKM 22.1) and 25 other tissues
TRAPPC5	chr19	7680843	7687703	+	ENSG00000181029.8	protein_coding	TRS31	19p13.2	trafficking protein particle complex subunit 5	Ubiquitous expression in testis (RPKM 17.0), kidney (RPKM 16.1) and 25 other tissues
TRAPPC6A	chr19	45162928	45178237	-	ENSG00000007255.10	protein_coding	TRS33	19q13.32	trafficking protein particle complex subunit 6A	This gene encodes a component of the trafficking protein particle complex, which tethers transport vesicles to the cis-Golgi membrane. Loss of expression of the related gene in mouse affects coat and eye pigmentation, suggesting that the encoded protein may be involved in melanosome biogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
TRAPPC8	chr18	31829173	31953136	-	ENSG00000153339.13	protein_coding	GSG1|HsT2706|KIAA1012|TRS85	18q12.1	trafficking protein particle complex subunit 8	Ubiquitous expression in testis (RPKM 23.5), thyroid (RPKM 10.8) and 25 other tissues
TRAPPC9	chr8	139730343	140458579	-	ENSG00000167632.14	protein_coding	IBP|IKBKBBP|MRT13|NIBP|T1|TRS120	8q24.3	trafficking protein particle complex subunit 9	This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive cognitive disability. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
TRARG1	chr17	 1279662	1300978	+	ENSG00000184811	protein-coding	BEC-1|DSPB1|IFITMD3|LOST1|TUSC5	17p13.3	trafficking regulator of GLUT4 (SLC2A4) 1	Restricted expression toward fat (RPKM 61.1)
TRAT1	chr3	108822698	108855005	+	ENSG00000163519.13	protein_coding	HSPC062|TCRIM|TRIM|pp29/30	3q13.13	T cell receptor associated transmembrane adaptor 1	Biased expression in lymph node (RPKM 11.9), appendix (RPKM 6.4) and 9 other tissues
TRAV3	chr14	21723713	21724321	+	ENSG00000211777.2	TR_V_gene	TCRAV16S1|TCRAV3S1	14q11.2	T cell receptor alpha variable 3	T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]
TRAV35	chr14	22221896	22222475	+	ENSG00000211814.1	TR_V_pseudogene	TCRAV25S1|TCRAV35S1	14q11.2	T cell receptor alpha variable 35	T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]
TRAV4	chr14	21736152	21736982	+	ENSG00000211778.2	TR_V_gene	TCRAV20S1|TCRAV4S1	14q11.2	T cell receptor alpha variable 4	T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]
TRAV8-4	chr14	21894433	21895030	+	ENSG00000211790.2	TR_V_gene	TCRAV1S2|TCRAV8S4|TRAV84	14q11.2	T cell receptor alpha variable 8-4	T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]
TRAV9-2	chr14	21941128	21941657	+	ENSG00000211793.2	TR_V_gene	TCRAV22S1|TCRAV9S2|TRAV92	14q11.2	T cell receptor alpha variable 9-2	T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]
TRBC2	chr7	142801041	142802748	+	ENSG00000211772.11	TR_C_gene	TCRBC2	7q34	T cell receptor beta constant 2	Annotation category: partial on reference assembly
TRBV19	chr7	142618849	142619532	+	ENSG00000211746.3	TR_V_gene	TCRBV17S1A1T|TCRBV19S1	7q34	T cell receptor beta variable 19	Annotation category: partial on reference assembly
TRBV20-1	chr7	142626649	142627399	+	ENSG00000211747.3	TR_V_gene	TCRBV20S1|TCRBV2S1|TRBV201	7q34	T cell receptor beta variable 20-1	Annotation category: partial on reference assembly
TRBV24-1	chr7	142656701	142657213	+	ENSG00000211750.2	TR_V_gene	TCRBV15S1|TCRBV24S1|TRBV241	7q34	T cell receptor beta variable 24-1	Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
TRBV26OR9-2	chr9	33695767	33696059	+	ENSG00000231165.3	TR_V_pseudogene	TCRBV26S2|TCRBV28S2|TCRBV28S2O	9p13.3	T cell receptor beta variable 26/OR9-2 (pseudogene)	-
TRBV30	chr7	142812586	142813399	-	ENSG00000237254.2	TR_V_gene	TCRBV20S1A1N2|TCRBV30S1	7q34	T cell receptor beta variable 30	Annotation category: partial on reference assembly
TRBV4-1	chr7	142313184	142313666	+	ENSG00000211710.3	TR_V_gene	BV07S1J2.7|TCRBV4S1|TCRBV7S1A1N2T|TRBV41	7q34	T cell receptor beta variable 4-1	Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
TRBV7-3	chr7	142384329	142384841	+	ENSG00000211714.3	TR_V_gene	TCRBV6S1A1N1|TCRBV7S3|TRBV73	7q34	T cell receptor beta variable 7-3	Predicted to be involved in cell surface receptor signaling pathway. Predicted to be part of T cell receptor complex. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
TRDC	chr14	22462932	22465787	+	ENSG00000211829.9	TR_C_gene	TCRD	14q11.2	T cell receptor delta constant	T cell receptors recognize foreign antigens which have been processed as small peptides and bound to major histocompatibility complex (MHC) molecules at the surface of antigen presenting cells (APC). Each T cell receptor is a dimer consisting of one alpha and one beta chain or one delta and one gamma chain. In a single cell, the T cell receptor loci are rearranged and expressed in the order delta, gamma, beta, and alpha. If both delta and gamma rearrangements produce functional chains, the cell expresses delta and gamma. If not, the cell proceeds to rearrange the beta and alpha loci. This region represents the germline organization of the T cell receptor alpha and delta loci. Both the alpha and delta loci include V (variable), J (joining), and C (constant) segments and the delta locus also includes diversity (D) segments. The delta locus is situated within the alpha locus, between the alpha V and J segments. During T cell development, the delta chain is synthesized by a recombination event at the DNA level joining a D segment with a J segment; a V segment is then joined to the D-J gene. The alpha chain is synthesized by recombination joining a single V segment with a J segment. For both chains, the C segment is later joined by splicing at the RNA level. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random additional of nucleotides by terminal deoxynucleotidyltransferase. Five variable segments can be used in either alpha or delta chains and are described by TRAV/DV symbols. Several V and J segments of the alpha locus are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Aug 2016]
TRDMT1	chr10	17142254	17202054	-	ENSG00000107614.21	protein_coding	DMNT2|DNMT2|MHSAIIP|PUMET|RNMT1	10p13	tRNA aspartic acid methyltransferase 1	This gene encodes a protein responsible for the methylation of aspartic acid transfer RNA, specifically at the cytosine-38 residue in the anticodon loop. This enzyme also possesses residual DNA-(cytosine-C5) methyltransferase activity. While similar in sequence and structure to DNA cytosine methyltransferases, this gene is distinct and highly conserved in its function among taxa. [provided by RefSeq, Jun 2010]
TREH	chr11	118657316	118679690	-	ENSG00000118094.11	protein_coding	TRE|TREA|TREHD	11q23.3	trehalase	This gene encodes an enzyme that hydrolyses trehalose, a disaccharide formed from two glucose molecules found mainly in fungi, plants, and insects. A partial duplication of this gene is located adjacent to this locus on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
TREHP1	chr11	118688039	118690600	-	ENSG00000255239.1	unprocessed_pseudogene	-	11q23.3	trehalase pseudogene 1	-
TREM1	chr6	41267926	41286719	-	ENSG00000124731.12	protein_coding	CD354|TREM-1	6p21.1	triggering receptor expressed on myeloid cells 1	This gene encodes a receptor belonging to the Ig superfamily that is expressed on myeloid cells. This protein amplifies neutrophil and monocyte-mediated inflammatory responses triggered by bacterial and fungal infections by stimulating release of pro-inflammatory chemokines and cytokines, as well as increased surface expression of cell activation markers. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jun 2011]
TREM2	chr6	41158506	41163186	-	ENSG00000095970.16	protein_coding	PLOSL2|TREM-2|Trem2a|Trem2b|Trem2c	6p21.1	triggering receptor expressed on myeloid cells 2	This gene encodes a membrane protein that forms a receptor signaling complex with the TYRO protein tyrosine kinase binding protein. The encoded protein functions in immune response and may be involved in chronic inflammation by triggering the production of constitutive inflammatory cytokines. Defects in this gene are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]
TREML1	chr6	41149342	41154337	-	ENSG00000161911.11	protein_coding	GLTL1825|PRO3438|TLT-1|TLT1|dJ238O23.3	6p21.1	triggering receptor expressed on myeloid cells like 1	This gene encodes a member of the triggering receptor expressed on myeloid cells-like (TREM) family. The encoded protein is a type 1 single Ig domain orphan receptor localized to the alpha-granule membranes of platelets. The encoded protein is involved in platelet aggregation, inflammation, and cellular activation and has been linked to Gray platelet syndrome. Alternative splicing results in multiple transcript variants [provided by RefSeq, Nov 2012]
TREML2	chr6	41190277	41201194	-	ENSG00000112195.8	protein_coding	C6orf76|TLT-2|TLT2|dJ238O23.1	6p21.1	triggering receptor expressed on myeloid cells like 2	TREML2 is located in a gene cluster on chromosome 6 with the single Ig variable (IgV) domain activating receptors TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM, Mar 2008]
TRERF1	chr6	42224931	42452051	-	ENSG00000124496.12	protein_coding	BCAR2|HSA277276|RAPA|TREP132|TReP-132|dJ139D8.5	6p21.1	transcriptional regulating factor 1	This gene encodes a zinc-finger transcriptional regulating protein which interacts with CBP/p300 to regulate the human gene CYP11A1. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
TREX1	chr3	48465811	48467645	+	ENSG00000213689.11	protein_coding	AGS1|CRV|DRN3|HERNS|RVCLS	3p21.31	three prime repair exonuclease 1	This gene encodes a nuclear protein with 3 exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene result in Aicardi-Goutieres syndrome, chilblain lupus, Cree encephalitis, and other diseases of the immune system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
TRGC2	chr7	38239580	38249572	-	ENSG00000227191.8	TR_C_gene	TCRGC2|TRGC2(2X)|TRGC2(3X)	7p14.1	T cell receptor gamma constant 2	Annotation category: partial on reference assembly
TRGV5	chr7	38349355	38350022	-	ENSG00000211697.4	TR_V_gene	TCRGV5|V1S5	7p14.1	T cell receptor gamma variable 5	Annotation category: partial on reference assembly
TRGV5P	chr7	38345030	38345499	-	ENSG00000228668.1	TR_V_pseudogene	TCRGV5P|V1S5P	7p14.1	T cell receptor gamma variable 5P (pseudogene)	-
TRH	chr3	129974305	129977938	+	ENSG00000170893.3	protein_coding	Pro-TRH|TRF	3q22.1	thyrotropin releasing hormone	This gene encodes a member of the thyrotropin-releasing hormone family. Cleavage of the encoded proprotein releases mature thyrotropin-releasing hormone, which is a tripeptide hypothalamic regulatory hormone. The human proprotein contains six thyrotropin-releasing hormone tripeptides. Thyrotropin-releasing hormone is involved in the regulation and release of thyroid-stimulating hormone, as well as prolactin. Deficiency of this hormone has been associated with hypothalamic hypothyroidism. [provided by RefSeq, May 2013]
TRIAP1	chr12	120443961	120446412	-	ENSG00000170855.3	protein_coding	HSPC132|MDM35|P53CSV|WF-1	12q24.31	TP53 regulated inhibitor of apoptosis 1	Ubiquitous expression in colon (RPKM 17.2), liver (RPKM 15.9) and 25 other tissues
TRIB1	chr8	125430321	125438405	+	ENSG00000173334.3	protein_coding	C8FW|GIG-2|GIG2|SKIP1|TRB-1|TRB1	8q24.13	tribbles pseudokinase 1	Broad expression in bone marrow (RPKM 87.7), liver (RPKM 53.0) and 20 other tissues
TRIB2	chr2	12716889	12742734	+	ENSG00000071575.11	protein_coding	C5FW|GS3955|TRB2	2p24.3	tribbles pseudokinase 2	This gene encodes one of three members of the Tribbles family. The Tribbles members share a Trb domain, which is homologous to protein serine-threonine kinases, but lacks the active site lysine and probably lacks a catalytic function. The Tribbles proteins interact and modulate the activity of signal transduction pathways in a number of physiological and pathological processes. This Tribbles member induces apoptosis of cells mainly of the hematopoietic origin. It has been identified as a protein up-regulated by inflammatory stimuli in myeloid (THP-1) cells, and also as an oncogene that inactivates the transcription factor C/EBPalpha (CCAAT/enhancer-binding protein alpha) and causes acute myelogenous leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
TRIM10	chr6	30151945	30160934	-	ENSG00000204613.10	protein_coding	HERF1|RFB30|RNF9	6p22.1	tripartite motif containing 10	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to cytoplasmic bodies. Studies in mice suggest that this protein plays a role in terminal differentiation of erythroid cells. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
TRIM11	chr1	228393673	228406840	-	ENSG00000154370.15	protein_coding	BIA1|RNF92	1q42.13	tripartite motif containing 11	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nucleus and the cytoplasm. Its function has not been identified. [provided by RefSeq, Jul 2008]
TRIM13	chr13	49995888	50020481	+	ENSG00000204977.9	protein_coding	CAR|DLEU5|LEU5|RFP2|RNF77	13q14.2	tripartite motif containing 13	This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This gene is located on chromosome 13 within the minimal deletion region for B-cell chronic lymphocytic leukemia. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
TRIM14	chr9	98069275	98119212	-	ENSG00000106785.14	protein_coding	-	9q22.33	tripartite motif containing 14	Ubiquitous expression in colon (RPKM 8.0), small intestine (RPKM 7.7) and 24 other tissues
TRIM15	chr6	30163206	30172696	+	ENSG00000204610.12	protein_coding	RNF93|ZNF178|ZNFB7	6p22.1	tripartite motif containing 15	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
TRIM16	chr17	15627960	15684311	-	ENSG00000221926.11	protein_coding	EBBP	17p12	tripartite motif containing 16	The protein encoded by this gene is a tripartite motif (TRIM) family member that contains two B box domains and a coiled-coiled region that are characteristic of the B box zinc finger protein family. While it lacks a RING domain found in other TRIM proteins, the encoded protein can homodimerize or heterodimerize with other TRIM proteins and has E3 ubiquitin ligase activity. This gene is also a tumor suppressor and is involved in secretory autophagy. [provided by RefSeq, Jan 2017]
TRIM16L	chr17	18697998	18736118	+	ENSG00000108448.20	protein_coding	TRIM70	17p11.2	tripartite motif containing 16 like	Ubiquitous expression in esophagus (RPKM 13.7), gall bladder (RPKM 5.6) and 24 other tissues
TRIM17	chr1	228407940	228416861	-	ENSG00000162931.11	protein_coding	RBCC|RNF16|terf	1q42.13	tripartite motif containing 17	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein is expressed almost exclusively in the testis, but its function is unknown. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
TRIM2	chr4	153152342	153339320	+	ENSG00000109654.14	protein_coding	CMT2R|RNF86	4q31.3	tripartite motif containing 2	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic filaments. It plays a neuroprotective role and functions as an E3-ubiquitin ligase in proteasome-mediated degradation of target proteins. Mutations in this gene can cause early-onset axonal neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
TRIM21	chr11	4384897	4393696	-	ENSG00000132109.9	protein_coding	RNF81|RO52|Ro/SSA|SSA|SSA1	11p15.4	tripartite motif containing 21	This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The encoded protein is part of the RoSSA ribonucleoprotein, which includes a single polypeptide and one of four small RNA molecules. The RoSSA particle localizes to both the cytoplasm and the nucleus. RoSSA interacts with autoantigens in patients with Sjogren syndrome and systemic lupus erythematosus. Alternatively spliced transcript variants for this gene have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
TRIM23	chr5	65589680	65625975	-	ENSG00000113595.14	protein_coding	ARD1|ARFD1|RNF46	5q12.3	tripartite motif containing 23	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein is also a member of the ADP ribosylation factor family of guanine nucleotide-binding family of proteins. Its carboxy terminus contains an ADP-ribosylation factor domain and a guanine nucleotide binding site, while the amino terminus contains a GTPase activating protein domain which acts on the guanine nucleotide binding site. The protein localizes to lysosomes and the Golgi apparatus. It plays a role in the formation of intracellular transport vesicles, their movement from one compartment to another, and phopholipase D activation. Three alternatively spliced transcript variants for this gene have been described. [provided by RefSeq, Jul 2008]
TRIM24	chr7	138460334	138589993	+	ENSG00000122779.17	protein_coding	PTC6|RNF82|TF1A|TIF1|TIF1A|TIF1ALPHA|hTIF1	7q33-q34	tripartite motif containing 24	The protein encoded by this gene mediates transcriptional control by interaction with the activation function 2 (AF2) region of several nuclear receptors, including the estrogen, retinoic acid, and vitamin D3 receptors. The protein localizes to nuclear bodies and is thought to associate with chromatin and heterochromatin-associated factors. The protein is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains - a RING, a B-box type 1 and a B-box type 2 - and a coiled-coil region. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
TRIM25	chr17	56887909	56914038	-	ENSG00000121060.16	protein_coding	EFP|RNF147|Z147|ZNF147	17q22	tripartite motif containing 25	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein is an RNA binding protein, functions as a ubiquitin E3 ligase and is involved in multiple cellular processes, including regulation of antiviral innate immunity. [provided by RefSeq, Sep 2021]
TRIM26	chr6	30184455	30213427	-	ENSG00000234127.8	protein_coding	AFP|RNF95|ZNF173	6p22.1	tripartite motif containing 26	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Although the function of the protein is unknown, the RING domain suggests that the protein may have DNA-binding activity. The gene localizes to the major histocompatibility complex (MHC) class I region on chromosome 6. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2011]
TRIM26BP	chr6	30238301	30242279	+	ENSG00000236475.1	unprocessed_pseudogene	TRIM26P|TRIM26P1	6p22.1	tripartite motif containing 26B, pseudogene	-
TRIM27	chr6	28903002	28923989	-	ENSG00000204713.10	protein_coding	RFP|RNF76	6p22.1	tripartite motif containing 27	This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein localizes to the nuclear matrix. It interacts with the enhancer of polycomb protein and represses gene transcription. It is also thought to be involved in the differentiation of male germ cells. Fusion of the N-terminus of this protein with the truncated C-terminus of the RET gene product has been shown to result in production of the ret transforming protein. [provided by RefSeq, Jul 2008]
TRIM28	chr19	58544091	58550722	+	ENSG00000130726.11	protein_coding	KAP1|PPP1R157|RNF96|TF1B|TIF1B	19q13.43	tripartite motif containing 28	The protein encoded by this gene mediates transcriptional control by interaction with the Kruppel-associated box repression domain found in many transcription factors. The protein localizes to the nucleus and is thought to associate with specific chromatin regions. The protein is a member of the tripartite motif family. This tripartite motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]
TRIM29	chr11	120111275	120185529	-	ENSG00000137699.16	protein_coding	ATDC	11q23.3	tripartite motif containing 29	The protein encoded by this gene belongs to the TRIM protein family. It has multiple zinc finger motifs and a leucine zipper motif. It has been proposed to form homo- or heterodimers which are involved in nucleic acid binding. Thus, it may act as a transcriptional regulatory factor involved in carcinogenesis and/or differentiation. It may also function in the suppression of radiosensitivity since it is associated with ataxia telangiectasia phenotype. [provided by RefSeq, Jul 2008]
TRIM31	chr6	30102897	30113106	-	ENSG00000204616.10	protein_coding	C6orf13|HCG1|HCGI|RNF	6p22.1	tripartite motif containing 31	This gene encodes a protein that functions as an E3 ubiquitin-protein ligase. This gene shows altered expression in certain tumors and may be a negative regulator of cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
TRIM31-AS1	chr6	30105240	30114724	+	ENSG00000231226.1	antisense	-	6p22.1	TRIM31 antisense RNA 1	-
TRIM32	chr9	116687302	116701300	+	ENSG00000119401.10	protein_coding	BBS11|HT2A|LGMD2H|LGMDR8|TATIP	9q33.1	tripartite motif containing 32	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. The protein has also been localized to the nucleus, where it interacts with the activation domain of the HIV-1 Tat protein. The Tat protein activates transcription of HIV-1 genes. [provided by RefSeq, Jul 2008]
TRIM33	chr1	114392777	114511160	-	ENSG00000197323.11	protein_coding	ECTO|PTC7|RFG7|TF1G|TIF1G|TIF1GAMMA|TIFGAMMA	1p13.2	tripartite motif containing 33	The protein encoded by this gene is thought to be a transcriptional corepressor. However, molecules that interact with this protein have not yet been identified. The protein is a member of the tripartite motif family. This motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Three alternatively spliced transcript variants for this gene have been described, however, the full-length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]
TRIM35	chr8	27284887	27311319	-	ENSG00000104228.12	protein_coding	HLS5|MAIR	8p21.2	tripartite motif containing 35	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The function of this protein has not been identified. [provided by RefSeq, Jul 2008]
TRIM36	chr5	115124762	115180546	-	ENSG00000152503.9	protein_coding	ANPH|ANPH1|HAPRIN|RBCC728|RNF98	5q22.3	tripartite motif containing 36	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
TRIM36-IT1	chr5	115148764	115149644	-	ENSG00000250472.1	sense_intronic	-	5q22.3	TRIM36 intronic transcript 1	-
TRIM37	chr17	58982638	59106921	-	ENSG00000108395.13	protein_coding	MUL|POB1|TEF3	17q22	tripartite motif containing 37	This gene encodes a member of the tripartite motif (TRIM) family, whose members are involved in diverse cellular functions such as developmental patterning and oncogenesis. The TRIM motif includes zinc-binding domains, a RING finger region, a B-box motif and a coiled-coil domain. The RING finger and B-box domains chelate zinc and might be involved in protein-protein and/or protein-nucleic acid interactions. Mutations in this gene are associated with mulibrey (muscle-liver-brain-eye) nanism, an autosomal recessive disorder that involves several tissues of mesodermal origin. TRIM37 localizes in peroxisomal membranes, and has been implicated in human peroxisomal biogenesis disorders. [provided by RefSeq, Jul 2020]
TRIM38	chr6	25962802	25991226	+	ENSG00000112343.10	protein_coding	RNF15|RORET	6p22.2	tripartite motif containing 38	This gene encodes a member of the tripartite motif (TRIM) family. The encoded protein contains a RING-type zinc finger, B box-type zinc finger and SPRY domain. The function of this protein has not been identified. A pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Jul 2012]
TRIM39	chr6	30326479	30343729	+	ENSG00000204599.14	protein_coding	RNF23|TFP|TRIM39B	6p22.1	tripartite motif containing 39	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The function of this protein has not been identified. This gene lies within the major histocompatibility complex class I region on chromosome 6. Alternate splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
TRIM4	chr7	99876958	99919600	-	ENSG00000146833.15	protein_coding	RNF87	7q22.1	tripartite motif containing 4	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternatively spliced transcript variants that encode different isoforms have been described.[provided by RefSeq, Jul 2010]
TRIM40	chr6	30136108	30148735	+	ENSG00000204614.8	protein_coding	RNF35	6p22.1	tripartite motif containing 40	This gene encodes a member of the tripartite motif (TRIM) protein family. The encoded protein may play a role as a negative regulator against inflammation and carcinogenesis in the gastrointestinal tract. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]
TRIM41	chr5	181222499	181235809	+	ENSG00000146063.19	protein_coding	RINCK	5q35.3	tripartite motif containing 41	This gene encodes a member of the tripartite motif (TRIM) family. The TRIM family is characterized by a signature motif composed of a RING finger, one or more B-box domains, and a coiled-coil region. This encoded protein may play a role in protein kinase C signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
TRIM46	chr1	155173787	155184971	+	ENSG00000163462.17	protein_coding	GENEY|TRIFIC	1q22	tripartite motif containing 46	Broad expression in brain (RPKM 2.5), testis (RPKM 0.9) and 14 other tissues
TRIM47	chr17	75874161	75878575	-	ENSG00000132481.6	protein_coding	GOA|RNF100	17q25.1	tripartite motif containing 47	Ubiquitous expression in brain (RPKM 11.4), kidney (RPKM 8.9) and 24 other tissues
TRIM48	chr11	55262182	55271119	+	ENSG00000150244.11	protein_coding	RNF101	11q11	tripartite motif containing 48	Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in innate immune response; protein ubiquitination; and regulation of gene expression. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
TRIM49	chr11	89797655	89808575	-	ENSG00000168930.13	protein_coding	RNF18|TRIM49A|TRIM49L2	11q14.3	tripartite motif containing 49	The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This gene has been found to be preferentially expressed in testis. Related pseudogenes and gene duplicates have also been identified on chromosome 11. [provided by RefSeq, Aug 2010]
TRIM49D1	chr11	89911111	89921767	-	ENSG00000223417.8	protein_coding	TRIM49D|TRIM49D1P|TRIM49D2|TRIM49D2P|TRIM49DP	11q14.3	tripartite motif containing 49D1	Low expression observed in reference dataset
TRIM5	chr11	5663557	5938619	-	ENSG00000132256.18	protein_coding	RNF88|TRIM5alpha	11p15.4	tripartite motif containing 5	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein forms homo-oligomers via the coilel-coil region and localizes to cytoplasmic bodies. It appears to function as a E3 ubiquitin-ligase and ubiqutinates itself to regulate its subcellular localization. It may play a role in retroviral restriction. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2009]
TRIM50	chr7	73312539	73328082	-	ENSG00000146755.10	protein_coding	TRIM50A	7q11.23	tripartite motif containing 50	Biased expression in stomach (RPKM 3.4), testis (RPKM 2.8) and 8 other tissues
TRIM51	chr11	55883297	55891810	+	ENSG00000124900.12	protein_coding	SPRYD5|TRIM51A	11q12.1	tripartite motif-containing 51	Low expression observed in reference dataset
TRIM51DP	chr11	49874945	49876638	+	ENSG00000255190.2	processed_pseudogene	-	11p11.12	tripartite motif-containing 51D, pseudogene	-
TRIM51FP	chr11	49833140	49839320	-	ENSG00000219061.4	unprocessed_pseudogene	RNF18B|TRIM49B	11p11.12	tripartite motif-containing 51F, pseudogene	-
TRIM51JP	chr2	95574899	95580764	+	ENSG00000232717.1	unprocessed_pseudogene	-	2q11.1	tripartite motif-containing 51J, pseudogene	-
TRIM52	chr5	181254417	181261139	-	ENSG00000183718.5	protein_coding	RNF102	5q35.3	tripartite motif containing 52	Ubiquitous expression in lymph node (RPKM 9.5), spleen (RPKM 9.1) and 25 other tissues
TRIM52-AS1	chr5	181261212	181272307	+	ENSG00000248275.1	processed_transcript	-	5q35.3	TRIM52 antisense RNA 1 (head to head)	-
TRIM53CP	chr11	48985871	48991881	-	ENSG00000254764.1	unprocessed_pseudogene	-	11p11.12	tripartite motif containing 53C, pseudogene	-
TRIM54	chr2	27282392	27307439	+	ENSG00000138100.13	protein_coding	MURF|MURF-3|RNF30|muRF3	2p23.3	tripartite motif containing 54	The protein encoded by this gene contains a RING finger motif and is highly similar to the ring finger proteins RNF28/MURF1 and RNF29/MURF2. In vitro studies demonstrated that this protein, RNF28, and RNF29 form heterodimers, which may be important for the regulation of titin kinase and microtubule-dependent signal pathways in striated muscles. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
TRIM55	chr8	66126896	66175487	+	ENSG00000147573.16	protein_coding	MURF-2|RNF29|muRF2	8q13.1	tripartite motif containing 55	The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. This protein associates transiently with microtubules, myosin, and titin during muscle sarcomere assembly. It may act as a transient adaptor and plays a regulatory role in the assembly of sarcomeres. Four alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
TRIM56	chr7	101085439	101097967	+	ENSG00000169871.12	protein_coding	RNF109	7q22.1	tripartite motif containing 56	Ubiquitous expression in spleen (RPKM 9.3), ovary (RPKM 7.5) and 25 other tissues
TRIM58	chr1	247857199	247878205	+	ENSG00000162722.8	protein_coding	BIA2	1q44	tripartite motif containing 58	Biased expression in bone marrow (RPKM 12.4), thyroid (RPKM 11.2) and 5 other tissues
TRIM59	chr3	160432445	160485773	-	ENSG00000213186.7	protein_coding	IFT80L|MRF1|RNF104|TRIM57|TSBF1	3q25.33	tripartite motif containing 59	Broad expression in testis (RPKM 4.6), lymph node (RPKM 4.6) and 21 other tissues
TRIM6	chr11	5596109	5612958	+	ENSG00000121236.20	protein_coding	RNF89	11p15.4	tripartite motif containing 6	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, B-box type 1 and B-box type 2 domain, and a coiled-coil region. The protein localizes to the nucleus, but its specific function has not been identified. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. Alternative splicing results in multiple transcript variants. A read-through transcript from this gene into the downstream TRIM34 gene has also been observed, which results in a fusion product from these neighboring family members. [provided by RefSeq, Oct 2010]
TRIM62	chr1	33145402	33182059	-	ENSG00000116525.13	protein_coding	DEAR1	1p35.1	tripartite motif containing 62	Ubiquitous expression in skin (RPKM 2.0), brain (RPKM 1.3) and 25 other tissues
TRIM63	chr1	26051304	26068436	-	ENSG00000158022.6	protein_coding	IRF|MURF1|MURF2|RNF28|SMRZ	1p36.11	tripartite motif containing 63	This gene encodes a member of the RING zinc finger protein family found in striated muscle and iris. The product of this gene is an E3 ubiquitin ligase that localizes to the Z-line and M-line lattices of myofibrils. This protein plays an important role in the atrophy of skeletal and cardiac muscle and is required for the degradation of myosin heavy chain proteins, myosin light chain, myosin binding protein, and for muscle-type creatine kinase. [provided by RefSeq, Feb 2012]
TRIM64B	chr11	89869282	89876017	-	ENSG00000189253.7	protein_coding	-	11q14.3	tripartite motif containing 64B	-
TRIM65	chr17	75880335	75897003	-	ENSG00000141569.10	protein_coding	4732463G12Rik	17q25.1	tripartite motif containing 65	Ubiquitous expression in spleen (RPKM 5.1), lung (RPKM 4.3) and 25 other tissues
TRIM66	chr11	8612037	8671866	-	ENSG00000166436.15	protein_coding	C11orf29|TIF1D|TIF1DELTA	11p15.4	tripartite motif containing 66	Broad expression in testis (RPKM 4.5), skin (RPKM 3.3) and 25 other tissues
TRIM67	chr1	231162112	231221556	+	ENSG00000119283.15	protein_coding	TNL	1q42.2	tripartite motif containing 67	Predicted to enable zinc ion binding activity. Predicted to be involved in regulation of protein localization. Predicted to act upstream of or within negative regulation of Ras protein signal transduction; positive regulation of neuron projection development; and positive regulation of ubiquitin-dependent protein catabolic process. Predicted to be located in cytoplasm and cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]
TRIM68	chr11	4598672	4608259	-	ENSG00000167333.12	protein_coding	GC109|RNF137|SS-56|SS56	11p15.4	tripartite motif containing 68	This gene encodes a member of the tripartite motif-containing protein family, whose members are characterized by a really interesting new gene (RING) finger domain, a zinc-binding B-box motif, and a coiled-coil region. Members of this family function as E3 ubiquitin ligases and are involved in a broad range of biological processes. This gene regulates the activation of nuclear receptors, such as androgen receptor, and has been implicated in development of prostate cancer cells, where its expression increases in response to a downregulation of microRNAs. In addition, this gene participates in viral defense regulation as a negative regulator of interferon-beta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
TRIM69	chr15	44728988	44767829	+	ENSG00000185880.12	protein_coding	HSD-34|HSD34|RNF36|Trif	15q21.1	tripartite motif containing 69	This gene encodes a member of the RING-B-box-coiled-coil (RBCC) family and encodes a protein with an N-terminal RING finger motif, a PRY domain and a C-terminal SPRY domain. The mouse ortholog of this gene is specifically expressed in germ cells at the round spermatid stages during spermatogenesis and, when overexpressed, induces apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
TRIM7	chr5	181193924	181205293	-	ENSG00000146054.17	protein_coding	GNIP|RNF90	5q35.3	tripartite motif containing 7	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1, a B-box type 2, and a coiled-coil region. The protein localizes to both the nucleus and the cytoplasm, and may represent a participant in the initiation of glycogen synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
TRIM72	chr16	31214021	31231537	+	ENSG00000177238.13	protein_coding	MG53	16p11.2	tripartite motif containing 72	Biased expression in prostate (RPKM 2.0), esophagus (RPKM 0.3) and 1 other tissue
TRIM73	chr7	75395063	75410996	+	ENSG00000178809.11	protein_coding	TRIM50B	7q11.23	tripartite motif containing 73	Broad expression in testis (RPKM 4.9), stomach (RPKM 3.6) and 24 other tissues
TRIM74	chr7	72959485	72969466	-	ENSG00000155428.12	protein_coding	TRIM50C	7q11.23	tripartite motif containing 74	Broad expression in testis (RPKM 13.0), bone marrow (RPKM 5.7) and 24 other tissues
TRIM8	chr10	102644496	102658407	+	ENSG00000171206.13	protein_coding	FSGSNEDS|GERP|RNF27	10q24.32	tripartite motif containing 8	This gene encodes a member of the tripartite motif (TRIM) protein family. Based on similarities to other proteins, the encoded protein is suspected to be an E3 ubiquitin-protein ligase. Regulation of this gene may be altered in some cancers. Mutations resulting in a truncated protein product have been observed in early-onset epileptic encephalopathy (EOEE). [provided by RefSeq, Sep 2016]
TRIM80P	chr17	75074306	75079549	+	ENSG00000232724.1	unitary_pseudogene	TRIM47LP	17q25.1	tripartite motif containing 80, pseudogene	-
TRIM9	chr14	50975262	51096061	-	ENSG00000100505.13	protein_coding	RNF91|SPRING	14q22.1	tripartite motif containing 9	The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to cytoplasmic bodies. Its function has not been identified. Alternate splicing of this gene generates two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
TRIML1	chr4	188139419	188147743	+	ENSG00000184108.7	protein_coding	RNF209	4q35.2	tripartite motif family like 1	The protein encoded by this gene is a tripartite motif family protein with similarities to E3 ubiquitin-protein ligases. While the function of the encoded protein has not been determined, the orthologous protein in mouse has been shown to bind ubiquitin-specific protease 5 and is involved in the blastocyst development stage. [provided by RefSeq, Sep 2016]
TRIOBP	chr22	37697004	37776556	+	ENSG00000100106.19	protein_coding	DFNB28|HRIHFB2122|TAP68|TARA|dJ37E16.4	22q13.1	TRIO and F-actin binding protein	This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]
TRIP10	chr19	6737925	6751526	+	ENSG00000125733.17	protein_coding	CIP4|HSTP|STOT|STP|TRIP-10	19p13.3	thyroid hormone receptor interactor 10	Ubiquitous expression in esophagus (RPKM 54.6), fat (RPKM 34.4) and 22 other tissues
TRIP11	chr14	91965991	92040896	-	ENSG00000100815.12	protein_coding	ACG1A|CEV14|GMAP-210|GMAP210|ODCD|ODCD1|TRIP-11|TRIP230	14q32.12	thyroid hormone receptor interactor 11	This gene was identified based on the interaction of its protein product with thyroid hormone receptor beta. This protein is associated with the Golgi apparatus. The N-terminal region of the protein binds Golgi membranes and the C-terminal region binds the minus ends of microtubules; thus, the protein is thought to play a role in assembly and maintenance of the Golgi ribbon structure around the centrosome. Mutations in this gene cause achondrogenesis type IA.[provided by RefSeq, Mar 2010]
TRIP12	chr2	229763838	229923239	-	ENSG00000153827.13	protein_coding	MRD49|TRIP-12|TRIPC|ULF	2q36.3	thyroid hormone receptor interactor 12	The protein encoded by this gene is an E3 ubiquitin-protein ligase involved in the degradation of the p19ARF/ARF isoform of CDKN2A, a tumor suppressor. The encoded protein also plays a role in the DNA damage response by regulating the stability of USP7, which regulates tumor suppressor p53. [provided by RefSeq, Jan 2017]
TRIP4	chr15	64387748	64455303	+	ENSG00000103671.9	protein_coding	ASC-1|ASC1|HsT17391|MDCDC|SMABF1|ZC2HC5	15q22.31	thyroid hormone receptor interactor 4	This gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear receptors and basal transcription factors to facilitate nuclear receptors-mediated transcription. This protein is localized in the nucleus and contains an E1A-type zinc finger domain, which mediates interaction with transcriptional coactivators and ligand-bound nuclear receptors, such as thyroid hormone receptor and retinoid X receptor alpha, but not glucocorticoid receptor. Mutations in this gene are associated with spinal muscular atrophy with congenital bone fractures-1 (SMABF1). [provided by RefSeq, Apr 2016]
TRIP6	chr7	100867138	100873454	+	ENSG00000087077.13	protein_coding	OIP-1|OIP1|TRIP-6|TRIP6i2|ZRP-1	7q22.1	thyroid hormone receptor interactor 6	This gene is a member of the zyxin family and encodes a protein with three LIM zinc-binding domains. This protein localizes to focal adhesion sites and along actin stress fibers. Recruitment of this protein to the plasma membrane occurs in a lysophosphatidic acid (LPA)-dependent manner and it regulates LPA-induced cell migration. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
TRIQK	chr8	92883530	93017673	-	ENSG00000205133.11	protein_coding	C8orf83|PRO0845|UPF0599	8q22.1	triple QxxK/R motif containing	Ubiquitous expression in adrenal (RPKM 10.3), thyroid (RPKM 9.6) and 25 other tissues
TRIR	chr19	 12730640	12734684	-	ENSG00000123144	protein-coding	C19orf43|TERCIR|fSAP18	19p13.13	telomerase RNA component interacting RNase	Enables 3-5 exonuclease activity and 5-3 exonuclease activity. Involved in RNA phosphodiester bond hydrolysis, exonucleolytic and rRNA catabolic process. [provided by Alliance of Genome Resources, Apr 2022]
TRIT1	chr1	39841022	39883511	-	ENSG00000043514.15	protein_coding	COXPD35|GRO1|IPPT|IPT|IPTase|MOD5|hGRO1	1p34.2	tRNA isopentenyltransferase 1	This gene encodes a protein that that is targeted to the mitochondrion and modifies transfer RNAs (tRNAs) by adding a dimethylallyl group onto the adenine at position 37. This modification is important for maintaining the correct reading frame during protein translation. This gene is considered a tumor suppressor and its expression can decrease cell growth. Alternative splicing results in multiple transcripts variants, most of which are likely non-functional. [provided by RefSeq, Aug 2015]
TRMO	chr9	97904489	97922570	-	ENSG00000136932.13	protein_coding	C9orf156|HSPC219|NAP1	9q22.33	tRNA methyltransferase O	Ubiquitous expression in thyroid (RPKM 2.2), lymph node (RPKM 1.5) and 25 other tissues
TRMT1	chr19	13104902	13117567	-	ENSG00000104907.12	protein_coding	MRT68|TRM1	19p13.13	tRNA methyltransferase 1	This gene encodes a tRNA-modifying enzyme that acts as a dimethyltransferase, modifying a single guanine residue at position 26 of the tRNA. The encoded enzyme has both mono- and dimethylase activity when exogenously expressed, and uses S-adenosyl methionine as a methyl donor. The C-terminal region of the encoded protein has both a zinc finger motif, and an arginine/proline-rich region. Mutations in this gene have been implicated in autosomal recessive intellectual disorder (ARID). Alternative splicing results in multiple transcript variants encoding different isoforms. There is a pseudogene of this gene on the X chromosome. [provided by RefSeq, May 2017]
TRMT10A	chr4	99546709	99564032	-	ENSG00000145331.13	protein_coding	HEL-S-88|MSSGM|MSSGM1|RG9MTD2|TRM10	4q23	tRNA methyltransferase 10A	This gene encodes a protein that belongs to the tRNA (Guanine-1)-methyltransferase family. A similar gene in yeast modifies several different tRNA species. Mutations in this gene are associated with microcephaly, short stature, and impaired glucose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
TRMT10B	chr9	37753803	37778972	+	ENSG00000165275.9	protein_coding	RG9MTD3|bA3J10.9	9p13.2	tRNA methyltransferase 10B	Enables tRNA (guanine-N1-)-methyltransferase activity. Predicted to be involved in mitochondrial tRNA processing. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
TRMT10C	chr3	101561862	101566446	+	ENSG00000174173.6	protein_coding	COXPD30|HNYA|MRPP1|RG9MTD1	3q12.3	tRNA methyltransferase 10C, mitochondrial RNase P subunit	This gene encodes the precursor of a subunit of the mitochondrial ribonuclease P, which is involved in 5 processing of mitochondrial tRNAs. The encoded protein may confer RNA-binding capacity to mitochondrial ribonuclease P and may be essential for transcript processing, RNA modification, translation and mitochondrial respiration. [provided by RefSeq, Nov 2012]
TRMT11	chr6	125986430	126039276	+	ENSG00000066651.18	protein_coding	C6orf75|MDS024|TRM11|TRMT11-1	6q22.32	tRNA methyltransferase 11 homolog	Ubiquitous expression in endometrium (RPKM 2.2), duodenum (RPKM 1.9) and 25 other tissues
TRMT112	chr11	64316460	64318084	-	ENSG00000173113.6	protein_coding	HSPC152|HSPC170|TRM112|TRMT11-2|hTrm112	11q13.1	tRNA methyltransferase activator subunit 11-2	Ubiquitous expression in adrenal (RPKM 47.8), ovary (RPKM 46.2) and 25 other tissues
TRMT1L	chr1	185118098	185157072	-	ENSG00000121486.11	protein_coding	C1orf25|MST070|MSTP070|TRM1L|bG120K12.3	1q25.3	tRNA methyltransferase 1 like	This gene encodes a protein that has some similarity to N2,N2-dimethylguanosine tRNA methyltransferase from other organisms. Studies of the mouse ortholog have shown that this protein plays a role in motor coordination and exploratory behavior, and it may also be involved in modulating postnatal neuronal functions. Alternatively spliced transcripts have been identified for this gene. [provided by RefSeq, Jan 2011]
TRMT2A	chr22	20111866	20117392	-	ENSG00000099899.14	protein_coding	HTF9C	22q11.21	tRNA methyltransferase 2 homolog A	The protein encoded by this gene is of unknown function. However, it is orthologous to the mouse Trmt2a gene and contains an RNA methyltransferase domain. Expression of this gene varies during the cell cycle, with aberrant expression being a possible biomarker in certain breast cancers. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
TRMT44	chr4	8436140	8493531	+	ENSG00000155275.18	protein_coding	C4orf23|METTL19|TRM44	4p16.1	tRNA methyltransferase 44 homolog	The protein encoded by this gene is a putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not been proven definitively. [provided by RefSeq, May 2012]
TRMT5	chr14	60971451	60981358	-	ENSG00000126814.6	protein_coding	COXPD26|KIAA1393|TRM5	14q23.1	tRNA methyltransferase 5	tRNAs contain as many as 13 or 14 nucleotides that are modified posttranscriptionally by enzymes that are highly specific for particular nucleotides in the tRNA structure. TRMT5 methylates the N1 position of guanosine-37 (G37) in selected tRNAs using S-adenosyl methionine (Brule et al., 2004 [PubMed 15248782]).[supplied by OMIM, Mar 2008]
TRMT6	chr20	5937235	5950558	-	ENSG00000089195.14	protein_coding	CGI-09|GCD10|Gcd10p	20p12.3	tRNA methyltransferase 6 non-catalytic subunit	This gene encodes a member of the tRNA methyltransferase 6 protein family. A similar protein in yeast is part of a two component methyltransferase, which is involved in the posttranslational modification that produces the modified nucleoside 1-methyladenosine in tRNAs. Modified 1-methyladenosine influences initiator methionine stability and may be involved in the replication of human immunodeficiency virus type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
TRMT61A	chr14	103529184	103537073	+	ENSG00000166166.12	protein_coding	C14orf172|GCD14|Gcd14p|TRM61|hTRM61	14q32.33	tRNA methyltransferase 61A	Ubiquitous expression in endometrium (RPKM 4.4), prostate (RPKM 4.3) and 25 other tissues
TRMT61B	chr2	28849821	28870301	-	ENSG00000171103.10	protein_coding	-	2p23.2	tRNA methyltransferase 61B	-
TRMT9B	chr8	 12945673	13029777	+	ENSG00000250305	protein-coding	C8orf79|KIAA1456|TRM9L|hTRM9L	8p22	tRNA methyltransferase 9B (putative)	Biased expression in thyroid (RPKM 9.8), brain (RPKM 1.5) and 7 other tissues
TRMU	chr22	46330875	46357340	+	ENSG00000100416.12	protein_coding	LCAL3|MTO2|MTU1|TRMT|TRMT1	22q13.31	tRNA mitochondrial 2-thiouridylase	This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
TRNAU1AP	chr1	28553085	28578545	+	ENSG00000180098.9	protein_coding	PRO1902|SECP43|TRSPAP1	1p35.3	tRNA selenocysteine 1 associated protein 1	Ubiquitous expression in lymph node (RPKM 5.3), urinary bladder (RPKM 4.9) and 25 other tissues
TRNP1	chr1	26993707	27000898	+	ENSG00000253368.3	protein_coding	C1orf225|TNRP|TRNP	1p36.11	TMF1 regulated nuclear protein 1	Biased expression in stomach (RPKM 40.7), esophagus (RPKM 17.0) and 7 other tissues
TRNT1	chr3	3126916	3150879	+	ENSG00000072756.16	protein_coding	CCA1|CGI-47|MtCCA|RPEM|SIFD	3p26.2	tRNA nucleotidyl transferase 1	The protein encoded by this gene is a CCA-adding enzyme which belongs to the tRNA nucleotidyltransferase/poly(A) polymerase family. This essential enzyme functions by catalyzing the addition of the conserved nucleotide triplet CCA to the 3 terminus of tRNA molecules. Mutations in this gene result in sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
TROAP	chr12	49323236	49331731	+	ENSG00000135451.12	protein_coding	TASTIN	12q13.12	trophinin associated protein	Biased expression in testis (RPKM 7.6), bone marrow (RPKM 6.1) and 11 other tissues
TRPC1	chr3	142724074	142807888	+	ENSG00000144935.14	protein_coding	HTRP-1|TRP1	3q23	transient receptor potential cation channel subfamily C member 1	The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
TRPC3	chr4	121879027	121951754	-	ENSG00000138741.10	protein_coding	SCA41|TRP3	4q27	transient receptor potential cation channel subfamily C member 3	The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
TRPC4AP	chr20	35002404	35092871	-	ENSG00000100991.11	protein_coding	C20orf188|PPP1R158|TRRP4AP|TRUSS	20q11.22	transient receptor potential cation channel subfamily C member 4 associated protein	Ubiquitous expression in placenta (RPKM 20.6), spleen (RPKM 19.3) and 25 other tissues
TRPC6	chr11	101451564	101872562	-	ENSG00000137672.12	protein_coding	FSGS2|TRP6	11q22.1	transient receptor potential cation channel subfamily C member 6	The protein encoded by this gene forms a receptor-activated calcium channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylinositol second messenger system. Activation of this channel occurs independently of protein kinase C and is not triggered by low levels of intracellular calcium. Defects in this gene are a cause of focal segmental glomerulosclerosis 2 (FSGS2). [provided by RefSeq, Mar 2009]
TRPC7-AS1	chr5	136214048	136222159	+	ENSG00000248211.1	antisense	-	5q31.1	TRPC7 antisense RNA 1	-
TRPM2	chr21	44350163	44443081	+	ENSG00000142185.16	protein_coding	EREG1|KNP3|LTRPC2|LTrpC-2|NUDT9H|NUDT9L1|TRPC7	21q22.3	transient receptor potential cation channel subfamily M member 2	The protein encoded by this gene forms a tetrameric cation channel that is permeable to calcium, sodium, and potassium and is regulated by free intracellular ADP-ribose. The encoded protein is activated by oxidative stress and confers susceptibility to cell death. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. Additional transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2016]
TRPM3	chr9	70529063	71446904	-	ENSG00000083067.22	protein_coding	GON-2|LTRPC3|MLSN2	9q21.12-q21.13	transient receptor potential cation channel subfamily M member 3	The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
TRPM4	chr19	49157741	49211836	+	ENSG00000130529.15	protein_coding	EKVP6|LTrpC4|PFHB1B|TRPM4B|hTRPM4	19q13.33	transient receptor potential cation channel subfamily M member 4	The protein encoded by this gene is a calcium-activated nonselective ion channel that mediates transport of monovalent cations across membranes, thereby depolarizing the membrane. The activity of the encoded protein increases with increasing intracellular calcium concentration, but this channel does not transport calcium. [provided by RefSeq, Mar 2016]
TRPM5	chr11	2404515	2423045	-	ENSG00000070985.13	protein_coding	LTRPC5|MTR1	11p15.5	transient receptor potential cation channel subfamily M member 5	This gene encodes a member of the transient receptor potential (TRP) protein family, which is a diverse group of proteins with structural features typical of ion channels. This protein plays an important role in taste transduction, and has characteristics of a calcium-activated, non-selective cation channel that carries Na+, K+, and Cs+ ions equally well, but not Ca(2+) ions. It is activated by lower concentrations of intracellular Ca(2+), and inhibited by higher concentrations. It is also a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. This gene is located within the Beckwith-Wiedemann syndrome critical region-1 on chromosome 11p15.5, and has been shown to be imprinted, with exclusive expression from the paternal allele. [provided by RefSeq, Oct 2010]
TRPM6	chr9	74722495	74888094	-	ENSG00000119121.21	protein_coding	CHAK2|HMGX|HOMG|HOMG1|HSH	9q21.13	transient receptor potential cation channel subfamily M member 6	This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Apr 2010]
TRPM7	chr15	50552473	50686815	-	ENSG00000092439.13	protein_coding	ALSPDC|CHAK|CHAK1|LTRPC7|LTrpC-7|TRP-PLIK	15q21.2	transient receptor potential cation channel subfamily M member 7	This gene belongs to the melastatin subfamily of transient receptor potential family of ion channels. The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. The encoded protein is involved in cytoskeletal organization, cell adhesion, cell migration and organogenesis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam. The gene may also be associated with defects of cardiac function. [provided by RefSeq, Aug 2017]
TRPM8	chr2	233917398	234019522	+	ENSG00000144481.16	protein_coding	LTRPC6|LTrpC-6|TRPP8|trp-p8	2q37.1	transient receptor potential cation channel subfamily M member 8	Predicted to enable ligand-gated calcium channel activity. Predicted to be involved in calcium ion transmembrane transport and positive regulation of cold-induced thermogenesis. Predicted to act upstream of or within several processes, including cellular calcium ion homeostasis; response to cold; and thermoception. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
TRPS1	chr8	115408496	115809673	-	ENSG00000104447.12	protein_coding	GC79|LGCR	8q23.3	transcriptional repressor GATA binding 1	This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]
TRPT1	chr11	64223799	64226254	-	ENSG00000149743.13	protein_coding	-	11q13.1	tRNA phosphotransferase 1	-
TRPV2	chr17	16415542	16437003	+	ENSG00000187688.14	protein_coding	VRL|VRL-1|VRL1	17p11.2	transient receptor potential cation channel subfamily V member 2	This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other tissues the channel may be activated by stimuli other than heat. [provided by RefSeq, Jul 2008]
TRPV3	chr17	3510502	3557995	-	ENSG00000167723.14	protein_coding	FNEPPK2|OLMS|OLMS1|VRL3	17p13.2	transient receptor potential cation channel subfamily V member 3	This gene product belongs to a family of nonselective cation channels that function in a variety of processes, including temperature sensation and vasoregulation. The thermosensitive members of this family are expressed in subsets of sensory neurons that terminate in the skin, and are activated at distinct physiological temperatures. This channel is activated at temperatures between 22 and 40 degrees C. This gene lies in close proximity to another family member gene on chromosome 17, and the two encoded proteins are thought to associate with each other to form heteromeric channels. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
TRPV4	chr12	109783085	109833401	-	ENSG00000111199.10	protein_coding	BCYM3|CMT2C|HMSN2C|OTRPC4|SMAL|SPSMA|SSQTL1|TRP12|VRL2|VROAC	12q24.11	transient receptor potential cation channel subfamily V member 4	This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought to be involved in the regulation of systemic osmotic pressure. Mutations in this gene are the cause of spondylometaphyseal and metatropic dysplasia and hereditary motor and sensory neuropathy type IIC. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
TRRAP	chr7	98877933	99013243	+	ENSG00000196367.12	protein_coding	DEDDFA|DFNA75|PAF350/400|PAF400|STAF40|TR-AP|Tra1	7q22.1	transformation/transcription domain associated protein	This gene encodes a large multidomain protein of the phosphoinositide 3-kinase-related kinases (PIKK) family. The encoded protein is a common component of many histone acetyltransferase (HAT) complexes and plays a role in transcription and DNA repair by recruiting HAT complexes to chromatin. Deregulation of this gene may play a role in several types of cancer including glioblastoma multiforme. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
TRUB1	chr10	114938193	114977676	+	ENSG00000165832.5	protein_coding	PUS4	10q25.3	TruB pseudouridine synthase family member 1	Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]
TRUB2	chr9	128305161	128322742	-	ENSG00000167112.9	protein_coding	CLONE24922	9q34.11	TruB pseudouridine synthase family member 2	Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]
TSACC	chr1	156337314	156346995	+	ENSG00000163467.11	protein_coding	C1orf182|SIP|SSTK-IP	1q22	TSSK6 activating cochaperone	Restricted expression toward testis (RPKM 148.3)
TSBP1	chr6	 32292698	32371903	-	ENSG00000204296	protein-coding	C6orf10|TSBP	6p21.32	testis expressed basic protein 1	Restricted expression toward testis (RPKM 6.6)
TSC1	chr9	132891348	132944633	-	ENSG00000165699.13	protein_coding	LAM|TSC	9q34.13	TSC complex subunit 1	This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signalling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including Tsc2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis. [provided by RefSeq, Apr 2018]
TSC2	chr16	2047465	2088720	+	ENSG00000103197.16	protein_coding	LAM|PPP1R160|TSC4	16p13.3	TSC complex subunit 2	Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
TSC22D1	chr13	44432143	44577147	-	ENSG00000102804.14	protein_coding	Ptg-2|TGFB1I4|TSC22	13q14.11	TSC22 domain family member 1	This gene encodes a member of the TSC22 domain family of leucine zipper transcription factors. The encoded protein is stimulated by transforming growth factor beta, and regulates the transcription of multiple genes including C-type natriuretic peptide. The encoded protein may play a critical role in tumor suppression through the induction of cancer cell apoptosis, and a single nucleotide polymorphism in the promoter of this gene has been associated with diabetic nephropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
TSC22D2	chr3	150408335	150466431	+	ENSG00000196428.12	protein_coding	TILZ4a|TILZ4b|TILZ4c	3q25.1	TSC22 domain family member 2	Ubiquitous expression in bone marrow (RPKM 8.5), gall bladder (RPKM 7.8) and 25 other tissues
TSC22D3	chrX	107713221	107777342	-	ENSG00000157514.16	protein_coding	DIP|DSIPI|GILZ|TSC-22R	Xq22.3	TSC22 domain family member 3	This gene encodes the anti-inflammatory protein glucocorticoid (GC)-induced leucine zipper. Expression of this gene stimulated by glucocorticoids and interleukin 10 and it appears to play a key role in the anti-inflammatory and immunosuppressive effects of this steroid. This protein has also been shown to inhibit pro-inflammatory molecules including nuclear factor &#954;B. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
TSC22D4	chr7	100463359	100479279	-	ENSG00000166925.8	protein_coding	THG-1|THG1|TILZ2	7q22.1	TSC22 domain family member 4	TSC22D4 is a member of the TSC22 domain family of leucine zipper transcriptional regulators (see TSC22D3; MIM 300506) (Kester et al., 1999 [PubMed 10488076]; Fiorenza et al., 2001 [PubMed 11707329]).[supplied by OMIM, Mar 2008]
TSEN15	chr1	184051677	184074212	+	ENSG00000198860.11	protein_coding	C1orf19|PCH2F|sen15	1q25.3	tRNA splicing endonuclease subunit 15	This gene encodes a subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from tRNA precursors. Alternative splicing results in multiple transcript variants. There is a pseudogene of this gene on chromosome 17. [provided by RefSeq, Jul 2014]
TSEN2	chr3	12484432	12539623	+	ENSG00000154743.17	protein_coding	PCH2B|SEN2|SEN2L	3p25.2	tRNA splicing endonuclease subunit 2	This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]
TSEN34	chr19	54189938	54194536	+	ENSG00000170892.10	protein_coding	LENG5|PCH2C|SEN34|SEN34L	19q13.42	tRNA splicing endonuclease subunit 34	This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene results in the neurological disorder pontocerebellar hypoplasia type 2. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Oct 2009]
TSEN54	chr17	75516060	75524739	+	ENSG00000182173.12	protein_coding	PCH2A|PCH4|PCH5|SEN54L|sen54	17q25.1	tRNA splicing endonuclease subunit 54	This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[provided by RefSeq, Oct 2009]
TSFM	chr12	57782589	57808071	+	ENSG00000123297.17	protein_coding	EFTS|EFTSMT	12q14.1	Ts translation elongation factor, mitochondrial	This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
TSG101	chr11	18468336	18527232	-	ENSG00000074319.12	protein_coding	TSG10|VPS23	11p15.1	tumor susceptibility 101	The protein encoded by this gene belongs to a group of apparently inactive homologs of ubiquitin-conjugating enzymes. The gene product contains a coiled-coil domain that interacts with stathmin, a cytosolic phosphoprotein implicated in tumorigenesis. The protein may play a role in cell growth and differentiation and act as a negative growth regulator. In vitro steady-state expression of this tumor susceptibility gene appears to be important for maintenance of genomic stability and cell cycle regulation. Mutations and alternative splicing in this gene occur in high frequency in breast cancer and suggest that defects occur during breast cancer tumorigenesis and/or progression. [provided by RefSeq, Jul 2008]
TSGA10	chr2	98997261	99154964	-	ENSG00000135951.14	protein_coding	CEP4L|CT79|SPGF26	2q11.2	testis specific 10	Biased expression in testis (RPKM 16.6) and thyroid (RPKM 1.5)
TSGA10IP	chr11	65945445	65959963	+	ENSG00000175513.9	protein_coding	FAM161C	11q13.1	testis specific 10 interacting protein	Restricted expression toward testis (RPKM 2.7)
TSHB	chr1	115029824	115034309	+	ENSG00000134200.3	protein_coding	TSH-B|TSH-BETA	1p13.2	thyroid stimulating hormone subunit beta	The four human glycoprotein hormones chorionic gonadotropin (CG), luteinizing hormone (LH), follicle stimulating hormone (FSH), and thyroid stimulating hormone (TSH) are dimers consisting of alpha and beta subunits that are associated noncovalently. The alpha subunits of these hormones are identical, however, their beta chains are unique and confer biological specificity. Thyroid stimulating hormone functions in the control of thyroid structure and metabolism. The protein encoded by this gene is the beta subunit of thyroid stimulating hormone. Mutations in this gene are associated with congenital central and secondary hypothyroidism and Hashimotos thyroiditis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
TSHR	chr14	80954989	81146302	+	ENSG00000165409.16	protein_coding	CHNG1|LGR3|hTSHR-I	14q31.1	thyroid stimulating hormone receptor	The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
TSHZ2	chr20	52972407	53495330	+	ENSG00000182463.15	protein_coding	C20orf17|OVC10-2|TSH2|ZABC2|ZNF218	20q13.2	teashirt zinc finger homeobox 2	This gene is a member of the teashirt C2H2-type zinc-finger protein family of transcription factors. This gene encodes a protein with five C2H2-type zinc fingers, a homeobox DNA-binding domain and a coiled-coil domain. This nuclear protein is predicted to act as a transcriptional repressor. This gene is thought to play a role in the development and progression of breast and other types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
TSHZ3	chr19	31274945	31349547	-	ENSG00000121297.6	protein_coding	TSH3|ZNF537	19q12	teashirt zinc finger homeobox 3	This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a gene silencing complex that inhibits caspase expression. Reduced expression of this gene and consequent caspase upregulation may be correlated with progression of Alzheimers disease in human patients. [provided by RefSeq, Jul 2016]
TSKS	chr19	49739753	49763330	-	ENSG00000126467.10	protein_coding	PPP1R161|STK22S1|TSKS1|TSSKS	19q13.33	testis specific serine kinase substrate	This gene may play a role in testicular physiology, spermatogenesis or spermiogenesis. Expression of the encoded protein is highest in the testis and down-regulated in testicular cancer. The gene is localized to the region 19q13.3 among the related RAS viral oncogene homolog (RRAS) and interferon regulatory factor 3 (IRF3) genes, which are both involved in tumorigenesis pathways and progression. [provided by RefSeq, Jul 2008]
TSKU	chr11	76782251	76798154	+	ENSG00000182704.7	protein_coding	E2IG4|LRRC54|TSK	11q13.5	tsukushi, small leucine rich proteoglycan	Broad expression in liver (RPKM 39.4), fat (RPKM 26.7) and 20 other tissues
TSLP	chr5	111070062	111078024	+	ENSG00000145777.14	protein_coding	-	5q22.1	thymic stromal lymphopoietin	Broad expression in gall bladder (RPKM 3.6), liver (RPKM 3.0) and 15 other tissues
TSNARE1	chr8	142212080	142403240	-	ENSG00000171045.14	protein_coding	-	8q24.3	t-SNARE domain containing 1	-
TSNAX	chr1	231528653	231566524	+	ENSG00000116918.13	protein_coding	C3PO|TRAX	1q42.2	translin associated factor X	This gene encodes a protein which specifically interacts with translin, a DNA-binding protein that binds consensus sequences at breakpoint junctions of chromosomal translocations. The encoded protein contains bipartite nuclear targeting sequences that may provide nuclear transport for translin, which lacks any nuclear targeting motifs. [provided by RefSeq, Jul 2008]
TSNAXIP1	chr16	67806765	67832148	+	ENSG00000102904.14	protein_coding	TXI1	16q22.1	translin associated factor X interacting protein 1	Biased expression in testis (RPKM 14.4), brain (RPKM 1.0) and 3 other tissues
TSPAN1	chr1	46175073	46185958	+	ENSG00000117472.9	protein_coding	NET1|TM4C|TM4SF	1p34.1	tetraspanin 1	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]
TSPAN10	chr17	81637171	81648749	+	ENSG00000182612.10	protein_coding	OCSP	17q25.3	tetraspanin 10	Low expression observed in reference dataset
TSPAN11	chr12	30926428	30996599	+	ENSG00000110900.14	protein_coding	VSSW1971	12p11.21	tetraspanin 11	Predicted to be involved in cell migration. Predicted to be integral component of membrane. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
TSPAN12	chr7	120787320	120858402	-	ENSG00000106025.8	protein_coding	EVR5|NET-2|NET2|TM4SF12	7q31.31	tetraspanin 12	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]
TSPAN13	chr7	16753535	16784536	+	ENSG00000106537.7	protein_coding	NET-6|NET6|TM4SF13	7p21.1	tetraspanin 13	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]
TSPAN14	chr10	80454166	80533123	+	ENSG00000108219.14	protein_coding	DC-TM4F2|TM4SF14|tspan-14	10q23.1	tetraspanin 14	Ubiquitous expression in fat (RPKM 22.8), placenta (RPKM 20.4) and 25 other tissues
TSPAN15	chr10	69451473	69507669	+	ENSG00000099282.9	protein_coding	2700063A19Rik|NET-7|NET7|TM4SF15	10q22.1	tetraspanin 15	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]
TSPAN16	chr19	11296139	11326996	+	ENSG00000130167.13	protein_coding	TM-8|TM4-B|TM4SF16	19p13.2	tetraspanin 16	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein might couple to signal transduction pathways and possibly modulate cellular activation and adhesion in haemopoietic and neural tissue. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
TSPAN17	chr5	176647387	176659054	+	ENSG00000048140.17	protein_coding	FBX23|FBXO23|TM4SF17	5q35.2	tetraspanin 17	This gene encodes a member of the transmembrane 4 superfamily. It is characterized by four tetraspanin transmembrane segments. The function of this gene has not yet been determined. [provided by RefSeq, Mar 2014]
TSPAN18	chr11	44726465	44932421	+	ENSG00000157570.11	protein_coding	TSPAN	11p11.2	tetraspanin 18	Broad expression in heart (RPKM 27.7), adrenal (RPKM 13.4) and 21 other tissues
TSPAN2	chr1	115048011	115089500	-	ENSG00000134198.9	protein_coding	NET3|TSN2|TSPAN-2	1p13.2	tetraspanin 2	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
TSPAN3	chr15	77041404	77083984	-	ENSG00000140391.14	protein_coding	TM4-A|TM4SF8|TSPAN-3	15q24.3	tetraspanin 3	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The use of alternate polyadenylation sites has been found for this gene. Multiple alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Dec 2009]
TSPAN31	chr12	57738013	57750211	+	ENSG00000135452.9	protein_coding	SAS	12q14.1	tetraspanin 31	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is thought to be involved in growth-related cellular processes. This gene is associated with tumorigenesis and osteosarcoma. [provided by RefSeq, Jul 2008]
TSPAN32	chr11	2301997	2318200	+	ENSG00000064201.15	protein_coding	ART1|PHEMX|PHMX|TSSC6	11p15.5	tetraspanin 32	This gene, which is a member of the tetraspanin superfamily, is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. This gene is located among several imprinted genes; however, this gene, as well as the tumor-suppressing subchromosomal transferable fragment 4, escapes imprinting. This gene may play a role in malignancies and diseases that involve this region, and it is also involved in hematopoietic cell function. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
TSPAN33	chr7	129144892	129169697	+	ENSG00000158457.5	protein_coding	PEN|PEN.|TSPAN-33	7q32.1	tetraspanin 33	Broad expression in kidney (RPKM 45.5), lymph node (RPKM 15.7) and 20 other tissues
TSPAN4	chr11	842808	867116	+	ENSG00000214063.10	protein_coding	NAG-2|NAG2|TETRASPAN|TM4SF7|TSPAN-4	11p15.5	tetraspanin 4	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is similar in sequence to its family member CD53 antigen. It is known to complex with integrins and other transmembrane 4 superfamily proteins. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
TSPAN5	chr4	98470367	98658629	-	ENSG00000168785.7	protein_coding	NET-4|NET4|TM4SF9|TSPAN-5	4q23	tetraspanin 5	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]
TSPAN7	chrX	38561370	38688920	+	ENSG00000156298.12	protein_coding	A15|CCG-B7|CD231|DXS1692E|MRX58|MXS1|TALLA-1|TM4SF2|TM4SF2b|XLID58	Xp11.4	tetraspanin 7	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and may have a role in the control of neurite outgrowth. It is known to complex with integrins. This gene is associated with X-linked cognitive disability and neuropsychiatric diseases such as Huntingtons chorea, fragile X syndrome and myotonic dystrophy. [provided by RefSeq, Jul 2008]
TSPAN8	chr12	71125085	71441898	-	ENSG00000127324.8	protein_coding	CO-029|TM4SF3	12q21.1	tetraspanin 8	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]
TSPAN9	chr12	3077355	3286564	+	ENSG00000011105.12	protein_coding	NET-5|NET5|PP1057	12p13.33-p13.32	tetraspanin 9	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. Alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Nov 2009]
TSPEAR	chr21	44497892	44711580	-	ENSG00000175894.14	protein_coding	C21orf29|DFNB98|ECTD14|TSP-EAR	21q22.3	thrombospondin type laminin G domain and EAR repeats	This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
TSPO	chr22	43151514	43163242	+	ENSG00000100300.17	protein_coding	BPBS|BZRP|DBI|IBP|MBR|PBR|PBS|PKBS|PTBR|mDRC|pk18	22q13.2	translocator protein	Present mainly in the mitochondrial compartment of peripheral tissues, the protein encoded by this gene interacts with some benzodiazepines and has different affinities than its endogenous counterpart. The protein is a key factor in the flow of cholesterol into mitochondria to permit the initiation of steroid hormone synthesis. Alternatively spliced transcript variants have been reported; one of the variants lacks an internal exon and is considered non-coding, and the other variants encode the same protein. [provided by RefSeq, Feb 2012]
TSPO2	chr6	41042554	41044337	+	ENSG00000112212.11	protein_coding	BZRPL1	6p21.1	translocator protein 2	Biased expression in bone marrow (RPKM 6.9) and testis (RPKM 0.2)
TSPOAP1	chr17	58301228	58328760	-	ENSG00000005379.15	protein_coding	BZRAP1|PBR-IP|PRAX-1|PRAX1|RIM-BP1|RIMBP1	17q22	TSPO associated protein 1	Broad expression in brain (RPKM 13.4), bone marrow (RPKM 7.4) and 23 other tissues
TSPOAP1-AS1	chr17	58325450	58415766	+	ENSG00000265148.5	antisense	BZRAP1-AS1	17q22	TSPOAP1, SUPT4H1 and RNF43 antisense RNA 1	Ubiquitous expression in lymph node (RPKM 8.2), appendix (RPKM 7.8) and 25 other tissues
TSPY26P	chr20	32186477	32190527	-	ENSG00000235217.6	transcribed_processed_pseudogene	TSPYL3|bA392M18.1	20q11.21	testis specific protein Y-linked 26, pseudogene	-
TSPYL1	chr6	116276578	116279903	-	ENSG00000189241.6	protein_coding	TSPYL	6q22.1	TSPY like 1	The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009]
TSPYL4	chr6	116249961	116254140	-	ENSG00000187189.10	protein_coding	dJ486I3.2	6q22.1	TSPY like 4	-
TSPYL5	chr8	97273474	97277964	-	ENSG00000180543.4	protein_coding	-	8q22.1	TSPY like 5	-
TSPYL6	chr2	54253184	54256272	-	ENSG00000178021.10	protein_coding	-	2p16.2	TSPY like 6	-
TSR1	chr17	2322503	2337507	-	ENSG00000167721.10	protein_coding	-	17p13.3	TSR1 ribosome maturation factor	-
TSR3	chr16	1349240	1351911	-	ENSG00000007520.3	protein_coding	C16orf42|HsTsr3	16p13.3	TSR3 ribosome maturation factor	Ubiquitous expression in fat (RPKM 23.3), kidney (RPKM 22.0) and 25 other tissues
TSSC2	chr11	3380961	3408978	+	ENSG00000223756.6	transcribed_unprocessed_pseudogene	-	11p15.4	tumor suppressing subtransferable candidate 2 (pseudogene)	-
TSSC4	chr11	2400488	2403878	+	ENSG00000184281.14	protein_coding	-	11p15.5	tumor suppressing subtransferable candidate 4	Ubiquitous expression in testis (RPKM 10.6), bone marrow (RPKM 6.3) and 25 other tissues
TSSK3	chr1	32351521	32364312	+	ENSG00000162526.6	protein_coding	SPOGA3|STK22C|STK22D|TSK3	1p35.1	testis specific serine kinase 3	This gene encodes a kinase expressed exclusively in the testis that is thought to play a role in either germ cell differentiation or mature sperm function. [provided by RefSeq, Jul 2008]
TSSK4	chr14	24205697	24208362	+	ENSG00000139908.14	protein_coding	C14orf20|STK22E|TSK-4|TSK4|TSSK5	14q12	testis specific serine kinase 4	This gene encodes a member of the testis-specific serine/threonine kinase family. The encoded protein is thought to be involved in spermatogenesis via stimulation of the CREB/CRE responsive pathway through phosphorylation of the cAMP responsive element binding protein transcription factor. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
TSSK6	chr19	19512418	19515685	-	ENSG00000178093.13	protein_coding	CT72|FKSG82|SSTK|TSSK4	19p13.11	testis specific serine kinase 6	This intronless gene encodes a member of the CAMK (calcium/calmodulin-dependent) serine/threonine protein kinase family. The encoded kinase has a broad expression pattern but is described as testis-specific due to effects on fertility. Male mice which lack the gene encoding a highly similar protein are sterile and have morphologically abnormal sperm. [provided by RefSeq, Jan 2012]
TST	chr22	37010859	37020183	-	ENSG00000128311.13	protein_coding	RDS	22q12.3	thiosulfate sulfurtransferase	This is one of two neighboring genes encoding similar proteins that each contain two rhodanese domains. The encoded protein is localized to the mitochondria and catalyzes the conversion of thiosulfate and cyanide to thiocyanate and sulfite. In addition, the protein interacts with 5S ribosomal RNA and facilitates its import into the mitochondria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
TSTD1	chr1	161037631	161038990	-	ENSG00000215845.10	protein_coding	KAT|TST	1q23.3	thiosulfate sulfurtransferase like domain containing 1	Ubiquitous expression in prostate (RPKM 33.0), kidney (RPKM 26.4) and 25 other tissues
TSTD2	chr9	97600080	97633575	-	ENSG00000136925.14	protein_coding	C9orf97	9q22.33	thiosulfate sulfurtransferase like domain containing 2	Ubiquitous expression in heart (RPKM 18.5), adrenal (RPKM 16.8) and 25 other tissues
TTBK1	chr6	43243680	43288259	+	ENSG00000146216.11	protein_coding	BDTK	6p21.1	tau tubulin kinase 1	Summary:This gene belongs to the casein kinase 1 superfamily. The encoded protein is a neuron-specific, serine/threonine and tyrosine kinase, which regulates phosphorylation of tau, a protein that associates with microtubule assemblies and stabilizes them. Genetic variants in this gene are associated with Alzheimers disease. [provided by RefSeq, Jul 2016]
TTBK2	chr15	42738734	42920809	-	ENSG00000128881.16	protein_coding	SCA11|TTBK	15q15.2	tau tubulin kinase 2	This gene encodes a serine-threonine kinase that putatively phosphorylates tau and tubulin proteins. Mutations in this gene cause spinocerebellar ataxia type 11 (SCA11); a neurodegenerative disease characterized by progressive ataxia and atrophy of the cerebellum and brainstem. [provided by RefSeq, Aug 2009]
TTC1	chr5	160009113	160065543	+	ENSG00000113312.10	protein_coding	TPR1	5q33.3	tetratricopeptide repeat domain 1	This gene encodes a protein that belongs to the tetratrico peptide repeat superfamily of proteins. The encoded protein plays a role in protein-protein interactions, and binds to the Galpha subunit of G protein-coupled receptors to activate the Ras signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
TTC12	chr11	113314529	113383544	+	ENSG00000149292.16	protein_coding	CILD45|TPARM	11q23.2	tetratricopeptide repeat domain 12	Broad expression in testis (RPKM 10.6), thyroid (RPKM 3.1) and 21 other tissues
TTC13	chr1	230906243	230978875	-	ENSG00000143643.12	protein_coding	-	1q42.2	tetratricopeptide repeat domain 13	-
TTC14	chr3	180602130	180617828	+	ENSG00000163728.10	protein_coding	DRDL5813|PRO19630	3q26.33	tetratricopeptide repeat domain 14	Ubiquitous expression in lymph node (RPKM 14.0), thyroid (RPKM 12.2) and 25 other tissues
TTC16	chr9	127716066	127731600	+	ENSG00000167094.15	protein_coding	-	9q34.11	tetratricopeptide repeat domain 16	-
TTC17	chr11	43358932	43494933	+	ENSG00000052841.14	protein_coding	-	11p12-p11.2	tetratricopeptide repeat domain 17	-
TTC19	chr17	15999380	16045015	+	ENSG00000011295.15	protein_coding	2010204O13Rik|MC3DN2	17p12	tetratricopeptide repeat domain 19	This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012]
TTC21A	chr3	39107704	39138903	+	ENSG00000168026.18	protein_coding	IFT139A|SPGF37|STI2	3p22.2	tetratricopeptide repeat domain 21A	Biased expression in testis (RPKM 39.0) and lung (RPKM 1.7)
TTC21B	chr2	165857475	165953843	-	ENSG00000123607.14	protein_coding	ATD4|FAP60|FLA17|IFT139|IFT139B|JBTS11|NPHP12|Nbla10696|SRTD4|THM1	2q24.3	tetratricopeptide repeat domain 21B	This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011]
TTC22	chr1	54779712	54801267	-	ENSG00000006555.10	protein_coding	-	1p32.3	tetratricopeptide repeat domain 22	Biased expression in esophagus (RPKM 8.5), colon (RPKM 4.0) and 12 other tissues
TTC23	chr15	99136323	99251223	-	ENSG00000103852.12	protein_coding	HCC-8	15q26.3	tetratricopeptide repeat domain 23	Ubiquitous expression in testis (RPKM 4.9), ovary (RPKM 4.2) and 24 other tissues
TTC23L	chr5	34838833	34899456	+	ENSG00000205838.13	protein_coding	MC25-1	5p13.2	tetratricopeptide repeat domain 23 like	Biased expression in testis (RPKM 3.3), adrenal (RPKM 0.3) and 2 other tissues
TTC24	chr1	156579727	156586770	+	ENSG00000187862.11	protein_coding	-	1q22	tetratricopeptide repeat domain 24	-
TTC26	chr7	139133744	139191986	+	ENSG00000105948.13	protein_coding	BRENS|DYF13|IFT56|dyf-13	7q34	tetratricopeptide repeat domain 26	Broad expression in testis (RPKM 5.7), thyroid (RPKM 2.6) and 23 other tissues
TTC27	chr2	32628032	32821051	+	ENSG00000018699.11	protein_coding	-	2p22.3	tetratricopeptide repeat domain 27	-
TTC28	chr22	27978014	28679865	-	ENSG00000100154.14	protein_coding	TPRBK	22q12.1	tetratricopeptide repeat domain 28	Ubiquitous expression in ovary (RPKM 3.5), endometrium (RPKM 2.6) and 24 other tissues
TTC28-AS1	chr22	27919376	28008581	+	ENSG00000235954.6	processed_transcript	TTC28-AS|TTC28AS|dJ353E16.2	22q12.1	TTC28 antisense RNA 1	Ubiquitous expression in ovary (RPKM 2.4), endometrium (RPKM 2.3) and 25 other tissues
TTC29	chr4	146706638	146945882	-	ENSG00000137473.17	protein_coding	NYD-SP14|SPGF42|TBPP2A	4q31.22	tetratricopeptide repeat domain 29	Restricted expression toward testis (RPKM 35.8)
TTC3	chr21	37073226	37203112	+	ENSG00000182670.13	protein_coding	DCRR1|RNF105|TPRDIII	21q22.13	tetratricopeptide repeat domain 3	Ubiquitous expression in brain (RPKM 28.4), thyroid (RPKM 22.3) and 25 other tissues
TTC3-AS1	chr21	37187666	37193926	-	ENSG00000228677.1	antisense	-	21q22.13	TTC3 antisense RNA 1	-
TTC30A	chr2	177612992	177618966	-	ENSG00000197557.6	protein_coding	FAP259|IFT70A|TTC30B	2q31.2	tetratricopeptide repeat domain 30A	Predicted to enable intraciliary transport particle B binding activity. Predicted to be involved in intraciliary transport. Predicted to be located in centrosome and cilium. Predicted to be part of intraciliary transport particle B. Predicted to be active in axonemal microtubule and ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022]
TTC30B	chr2	177548998	177553014	-	ENSG00000196659.9	protein_coding	IFT70|IFT70B|fleer	2q31.2	tetratricopeptide repeat domain 30B	-
TTC31	chr2	74483073	74494886	+	ENSG00000115282.19	protein_coding	-	2p13.1	tetratricopeptide repeat domain 31	-
TTC32	chr2	19896643	19901986	-	ENSG00000183891.5	protein_coding	-	2p24.1	tetratricopeptide repeat domain 32	-
TTC33	chr5	40512333	40755975	-	ENSG00000113638.13	protein_coding	OSRF	5p13.1	tetratricopeptide repeat domain 33	Ubiquitous expression in brain (RPKM 7.4), thyroid (RPKM 4.0) and 24 other tissues
TTC34	chr1	2635976	2801717	-	ENSG00000215912.12	protein_coding	-	1p36.32	tetratricopeptide repeat domain 34	-
TTC36	chr11	118527472	118531197	+	ENSG00000172425.10	protein_coding	HBP21	11q23.3	tetratricopeptide repeat domain 36	The protein encoded by this gene has three tetratricopeptide repeats and is a chaperone for heat shock protein 70. The encoded protein may function as a tumor suppressor in hepatocellular carcinoma (HCC) since it promotes apoptosis but is downregulated in HCC. [provided by RefSeq, Sep 2016]
TTC38	chr22	46267961	46294008	+	ENSG00000075234.16	protein_coding	LL22NC03-5H6.5	22q13.31	tetratricopeptide repeat domain 38	Broad expression in kidney (RPKM 26.4), small intestine (RPKM 22.0) and 25 other tissues
TTC39A	chr1	51287258	51345116	-	ENSG00000085831.15	protein_coding	C1orf34|DEME-6	1p32.3	tetratricopeptide repeat domain 39A	Broad expression in testis (RPKM 15.4), colon (RPKM 9.3) and 14 other tissues
TTC39B	chr9	15163622	15307360	-	ENSG00000155158.20	protein_coding	C9orf52	9p22.3	tetratricopeptide repeat domain 39B	Ubiquitous expression in kidney (RPKM 3.7), gall bladder (RPKM 3.5) and 25 other tissues
TTC39C	chr18	23992773	24135610	+	ENSG00000168234.12	protein_coding	C18orf17|HsT2697	18q11.2	tetratricopeptide repeat domain 39C	Broad expression in liver (RPKM 7.1), skin (RPKM 3.6) and 20 other tissues
TTC4	chr1	54715822	54742657	+	ENSG00000243725.6	protein_coding	CNS1	1p32.3	tetratricopeptide repeat domain 4	This gene encodes a protein that contains tetratricopeptide (TPR) repeats, which often mediate protein-protein interactions and chaperone activity. The encoded protein interacts with heat shock proteins 70 and 90. Alternative splicing results in multiple transcript variants. Naturally-occuring readthrough transcription occurs from upstream gene MROH (maestro heat-like repeat family member 7) to this gene. [provided by RefSeq, Apr 2014]
TTC41P	chr12	103843749	103930211	-	ENSG00000214198.8	transcribed_unitary_pseudogene	GNN|GNNP	12q23.3	tetratricopeptide repeat domain 41, pseudogene	Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
TTC4P1	chr7	45999621	46000778	-	ENSG00000221971.3	processed_pseudogene	TTC4P	7p12.3	tetratricopeptide repeat domain 4 pseudogene 1	-
TTC5	chr14	20256558	20305994	-	ENSG00000136319.11	protein_coding	NEDCAFD|Strap	14q11.2	tetratricopeptide repeat domain 5	Ubiquitous expression in testis (RPKM 7.6), thyroid (RPKM 6.4) and 25 other tissues
TTC6	chr14	37595847	38041442	+	ENSG00000139865.16	protein_coding	C14orf25|NCRNA00291	14q21.1	tetratricopeptide repeat domain 6	Biased expression in prostate (RPKM 2.5), testis (RPKM 2.0) and 3 other tissues
TTC7A	chr2	46916157	47076137	+	ENSG00000068724.15	protein_coding	GIDID|MINAT|TTC7	2p21	tetratricopeptide repeat domain 7A	This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
TTC7B	chr14	90524564	90816479	-	ENSG00000165914.14	protein_coding	TTC7L1|c14_5685	14q32.11	tetratricopeptide repeat domain 7B	Ubiquitous expression in brain (RPKM 16.7), fat (RPKM 9.9) and 25 other tissues
TTC8	chr14	88824153	88881078	+	ENSG00000165533.18	protein_coding	BBS8|RP51	14q31.3	tetratricopeptide repeat domain 8	This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
TTC9	chr14	70641787	70675360	+	ENSG00000133985.2	protein_coding	TTC9A	14q24.2	tetratricopeptide repeat domain 9	This gene encodes a protein that contains three tetratricopeptide repeats. The gene has been shown to be hormonally regulated in breast cancer cells and may play a role in cancer cell invasion and metastasis. [provided by RefSeq, Mar 2009]
TTC9B	chr19	40216058	40218399	-	ENSG00000174521.7	protein_coding	-	19q13.2	tetratricopeptide repeat domain 9B	-
TTC9C	chr11	62728069	62740293	+	ENSG00000162222.13	protein_coding	-	11q12.3	tetratricopeptide repeat domain 9C	-
TTI1	chr20	37983007	38033468	-	ENSG00000101407.12	protein_coding	KIAA0406|smg-10	20q11.23	TELO2 interacting protein 1	Ubiquitous expression in testis (RPKM 7.8), thyroid (RPKM 6.4) and 25 other tissues
TTI2	chr8	33473386	33513601	-	ENSG00000129696.12	protein_coding	C8orf41|MRT39	8p12	TELO2 interacting protein 2	This gene encodes a regulator of the DNA damage response. The protein is a component of the Triple T complex (TTT) which also includes telomere length regulation protein and TELO2 interacting protein 1. The TTT complex is involved in cellular resistance to DNA damage stresses and may act as a regulator of phosphoinositide-3-kinase-related protein kinase (PIKK) abundance. [provided by RefSeq, May 2013]
TTK	chr6	80003887	80042527	+	ENSG00000112742.9	protein_coding	CT96|ESK|MPH1|MPS1|MPS1L1|PYT	6q14.1	TTK protein kinase	This gene encodes a dual specificity protein kinase with the ability to phosphorylate tyrosine, serine and threonine. Associated with cell proliferation, this protein is essential for chromosome alignment at the centromere during mitosis and is required for centrosome duplication. It has been found to be a critical mitotic checkpoint protein for accurate segregation of chromosomes during mitosis. Tumorigenesis may occur when this protein fails to degrade and produces excess centrosomes resulting in aberrant mitotic spindles. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
TTL	chr2	112482154	112541739	+	ENSG00000114999.7	protein_coding	-	2q14.1	tubulin tyrosine ligase	Ubiquitous expression in brain (RPKM 13.3), lung (RPKM 7.4) and 24 other tissues
TTLL1	chr22	43039644	43089428	-	ENSG00000100271.16	protein_coding	C22orf7|HS323M22B	22q13.2	tubulin tyrosine ligase like 1	Broad expression in testis (RPKM 7.3), brain (RPKM 5.8) and 24 other tissues
TTLL10	chr1	1173884	1197935	+	ENSG00000162571.13	protein_coding	TTLL5	1p36.33	tubulin tyrosine ligase like 10	Predicted to enable protein-glycine ligase activity, elongating. Predicted to be involved in protein polyglycylation. Predicted to be located in axoneme and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022]
TTLL10-AS1	chr1	1173056	1179555	-	ENSG00000205231.1	antisense	-	1p36.33	TTLL10 antisense RNA 1	-
TTLL11	chr9	121821928	122093606	-	ENSG00000175764.14	protein_coding	C9orf148|C9orf20|TTLL11-IT1|bA244O19.1	9q33.2	tubulin tyrosine ligase like 11	Ubiquitous expression in brain (RPKM 2.0), testis (RPKM 1.0) and 25 other tissues
TTLL12	chr22	43166622	43187133	-	ENSG00000100304.12	protein_coding	dJ526I14.2	22q13.2	tubulin tyrosine ligase like 12	Ubiquitous expression in esophagus (RPKM 28.7), colon (RPKM 16.0) and 25 other tissues
TTLL13	chr15	 90249556	90265477	+	ENSG00000213471	protein-coding	TTLL13P	15q26.1	tubulin tyrosine ligase like 13	-
TTLL3	chr3	9808086	9855138	+	ENSG00000214021.15	protein_coding	HOTTL	3p25.3	tubulin tyrosine ligase like 3	Enables protein-glycine ligase activity. Predicted to be involved in axoneme assembly and flagellated sperm motility. Predicted to be located in axoneme; microtubule cytoskeleton; and sperm flagellum. [provided by Alliance of Genome Resources, Apr 2022]
TTLL4	chr2	218710845	218755416	+	ENSG00000135912.10	protein_coding	-	2q35	tubulin tyrosine ligase like 4	-
TTLL5	chr14	75633625	75955078	+	ENSG00000119685.19	protein_coding	CORD19|KIAA0998|STAMP	14q24.3	tubulin tyrosine ligase like 5	This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of glucocorticoid receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010]
TTLL6	chr17	48762235	48817214	-	ENSG00000170703.15	protein_coding	TTL.6	17q21.32	tubulin tyrosine ligase like 6	Biased expression in testis (RPKM 10.4), colon (RPKM 1.9) and 5 other tissues
TTLL7	chr1	83865028	83999150	-	ENSG00000137941.16	protein_coding	-	1p31.1	tubulin tyrosine ligase like 7	-
TTLL7-IT1	chr1	83979118	83984300	-	ENSG00000233061.1	sense_intronic	-	1p31.1	TTLL7 intronic transcript 1	-
TTLL9	chr20	31870702	31944963	+	ENSG00000131044.16	protein_coding	C20orf125	20q11.21	tubulin tyrosine ligase like 9	Biased expression in testis (RPKM 3.4), brain (RPKM 0.8) and 3 other tissues
TTN	chr2	178525989	178830802	-	ENSG00000155657.26	protein_coding	CMD1G|CMH9|CMPD4|EOMFC|HMERF|LGMD2J|LGMDR10|MYLK5|SALMY|TMD	2q31.2	titin	This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]
TTN-AS1	chr2	178521183	178779963	+	ENSG00000237298.9	antisense	-	2q31.2	TTN antisense RNA 1	Broad expression in heart (RPKM 12.7), bone marrow (RPKM 4.6) and 14 other tissues
TTPAL	chr20	44475886	44494603	+	ENSG00000124120.10	protein_coding	C20orf121	20q13.12	alpha tocopherol transfer protein like	Ubiquitous expression in skin (RPKM 4.7), thyroid (RPKM 4.2) and 25 other tissues
TTTY14	chrY	18872501	19077416	-	ENSG00000176728.7	lincRNA	CYorf14|NCRNA00137|NCRNA00185|PRO2834|TTY14	Yq11.222	testis-specific transcript, Y-linked 14	Low expression observed in reference dataset
TTYH1	chr19	54415219	54436900	+	ENSG00000167614.13	protein_coding	-	19q13.42	tweety family member 1	Biased expression in brain (RPKM 71.7) and testis (RPKM 20.0)
TTYH2	chr17	74213514	74262020	+	ENSG00000141540.10	protein_coding	C17orf29	17q25.1	tweety family member 2	This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel, and may play a role in kidney tumorigenesis. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
TTYH3	chr7	2631951	2664802	+	ENSG00000136295.14	protein_coding	-	7p22.3	tweety family member 3	Ubiquitous expression in brain (RPKM 20.5), kidney (RPKM 16.0) and 24 other tissues
TUBA1A	chr12	49184796	49189324	-	ENSG00000167552.13	protein_coding	B-ALPHA-1|LIS3|TUBA3	12q13.12	tubulin alpha 1a	Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blot studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, intellectual disability, and early-onset epilepsy caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]
TUBA1B	chr12	49127782	49131397	-	ENSG00000123416.15	protein_coding	K-ALPHA-1	12q13.12	tubulin alpha 1b	Ubiquitous expression in brain (RPKM 600.4), bone marrow (RPKM 551.8) and 24 other tissues
TUBA1C	chr12	49188736	49274603	+	ENSG00000167553.15	protein_coding	TUBA6|bcm948	12q13.12	tubulin alpha 1c	Ubiquitous expression in esophagus (RPKM 168.9), bone marrow (RPKM 156.4) and 25 other tissues
TUBA3C	chr13	19173770	19181852	-	ENSG00000198033.11	protein_coding	TUBA2|bA408E5.3	13q12.11	tubulin alpha 3c	Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene is an alpha tubulin gene that encodes a protein 99% identical to the mouse testis-specific Tuba3 and Tuba7 gene products. This gene is located in the 13q11 region, which is associated with the genetic diseases Clouston hidrotic ectodermal dysplasia and Kabuki syndrome. [provided by RefSeq, Jul 2008]
TUBA4A	chr2	219249711	219278170	-	ENSG00000127824.13	protein_coding	ALS22|H2-ALPHA|TUBA1	2q35	tubulin alpha 4a	Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
TUBA4B	chr2	219253243	219272188	+	ENSG00000243910.7	protein_coding	TUBA4	2q35	tubulin alpha 4b	Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Predicted to be active in cytoplasm and microtubule. [provided by Alliance of Genome Resources, Apr 2022]
TUBA8	chr22	18110331	18146554	+	ENSG00000183785.14	protein_coding	CDCBM8|TUBAL2	22q11.21	tubulin alpha 8	This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene are associated with polymicrogyria and optic nerve hypoplasia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
TUBAL3	chr10	5393098	5404830	-	ENSG00000178462.11	protein_coding	-	10p15.1	tubulin alpha like 3	-
TUBB	chr6	30720201	30725426	+	ENSG00000196230.12	protein_coding	CDCBM6|CSCSC1|M40|OK/SW-cl.56|TUBB1|TUBB5	6p21.33	tubulin beta class I	This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014]
TUBB1	chr20	59019254	59026654	+	ENSG00000101162.3	protein_coding	-	20q13.32	tubulin beta 1 class VI	Note: TUBB1 (Gene ID: 81027) and TUBB (Gene ID: 203068) share the TUBB1 symbol/alias in common. [07 Feb 2019]
TUBB3	chr16	89921392	89938761	+	ENSG00000258947.6	protein_coding	CDCBM|CDCBM1|CFEOM3|CFEOM3A|FEOM3|TUBB4|beta-4	16q24.3	tubulin beta 3 class III	This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]
TUBB4A	chr19	6494319	6502848	-	ENSG00000104833.11	protein_coding	DYT4|TUBB4|beta-5	19p13.3	tubulin beta 4A class IVa	This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]
TUBB4BP2	chr9	34109171	34109968	-	ENSG00000224802.2	processed_pseudogene	-	9p13.3	TUBB4B pseudogene 2	-
TUBB8P10	chr1	227493029	227495142	-	ENSG00000237469.2	unprocessed_pseudogene	-	1q42.13	tubulin beta 8 class VIII pseudogene 10	-
TUBBP10	chr1	52994726	52996026	+	ENSG00000226147.1	processed_pseudogene	-	1p32.3	tubulin beta class I pseudogene 10	-
TUBBP2	chr13	41384773	41385183	-	ENSG00000214222.2	processed_pseudogene	-	13q14.11	tubulin beta pseudogene 2	-
TUBBP6	chr7	55645620	55646951	+	ENSG00000235207.1	processed_pseudogene	-	7p11.2	tubulin beta class I pseudogene 6	-
TUBBP9	chr6	39992815	40000233	+	ENSG00000220586.1	processed_pseudogene	-	6p21.2	tubulin beta class I pseudogene 9	-
TUBD1	chr17	59859482	59892945	-	ENSG00000108423.14	protein_coding	TUBD	17q23.1	tubulin delta 1	Ubiquitous expression in esophagus (RPKM 3.8), thyroid (RPKM 3.7) and 25 other tissues
TUBE1	chr6	112070777	112087529	-	ENSG00000074935.13	protein_coding	TUBE|dJ142L7.2	6q21	tubulin epsilon 1	This gene encodes a member of the tubulin superfamily. This protein localizes to the centriolar sub-distal appendages that are associated with the older of the two centrioles after centrosome duplication. This protein plays a central role in organization of the microtubules during centriole duplication. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Jan 2009]
TUBG1	chr17	42609676	42615234	+	ENSG00000131462.7	protein_coding	CDCBM4|GCP-1|TUBG|TUBGCP1	17q21.2	tubulin gamma 1	This gene encodes a member of the tubulin superfamily. The encoded protein localizes to the centrosome where it binds to microtubules as part of a complex referred to as the gamma-tubulin ring complex. The protein mediates microtubule nucleation and is required for microtubule formation and progression of the cell cycle. A pseudogene of this gene is found on chromosome 7. [provided by RefSeq, Jan 2009]
TUBG2	chr17	42659305	42667006	+	ENSG00000037042.8	protein_coding	-	17q21.2	tubulin gamma 2	-
TUBGCP2	chr10	133278630	133312337	-	ENSG00000130640.13	protein_coding	ALP4|GCP-2|GCP2|Grip103|PAMDDFS|SPBC97|SPC97|Spc97p|h103p|hGCP2|hSpc97	10q26.3	tubulin gamma complex associated protein 2	Ubiquitous expression in testis (RPKM 14.0), kidney (RPKM 12.2) and 25 other tissues
TUBGCP4	chr15	43369221	43409771	+	ENSG00000137822.12	protein_coding	76P|GCP-4|GCP4|Grip76|MCCRP3	15q15.3	tubulin gamma complex associated protein 4	This gene encodes a component of the gamma-tubulin ring complex, which is required for microtubule nucleation. In mammalian cells, the protein localizes to centrosomes in association with gamma-tubulin. Crystal structure analysis revealed a structure composed of five helical bundles arranged around conserved hydrophobic cores. An exposed surface area located in the C-terminal domain is essential and sufficient for direct binding to gamma-tubulin. Mutations in this gene that alter microtubule organization are associated with microcephaly and chorioretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
TUBGCP6	chr22	50217689	50244992	-	ENSG00000128159.11	protein_coding	GCP-6|GCP6|MCCRP|MCCRP1|MCPHCR	22q13.33	tubulin gamma complex associated protein 6	The protein encoded by this gene is part of a large multisubunit complex required for microtubule nucleation at the centrosome. [provided by RefSeq, Jul 2008]
TUFM	chr16	28842411	28846408	-	ENSG00000178952.10	protein_coding	COXPD4|EF-TuMT|EFTU|P43	16p11.2	Tu translation elongation factor, mitochondrial	This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]
TUFT1	chr1	151540305	151583583	+	ENSG00000143367.15	protein_coding	-	1q21.3	tuftelin 1	Broad expression in skin (RPKM 29.7), esophagus (RPKM 10.9) and 19 other tissues
TUG1	chr22	30970677	30979395	+	ENSG00000253352.8	antisense	LINC00080|NCRNA00080|TI-227H	22q12.2	taurine up-regulated 1	Ubiquitous expression in testis (RPKM 36.1), endometrium (RPKM 31.7) and 25 other tissues
TULP1	chr6	35497874	35512938	-	ENSG00000112041.12	protein_coding	LCA15|RP14|TUBL1	6p21.31	TUB like protein 1	This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. The protein encoded by this gene is thought to play a role in the physiology of photoreceptors. Mutations in this gene are associated with recessive juvenile retinitis pigmentosa and Leber congenital amaurosis-15. [provided by RefSeq, Nov 2016]
TULP2	chr19	48880965	48898733	-	ENSG00000104804.7	protein_coding	CT65|TUBL2	19q13.33	TUB like protein 2	TULP2 is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates, and invertebrates. The TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. [provided by RefSeq, Jul 2008]
TULP3	chr12	2877223	2941140	+	ENSG00000078246.16	protein_coding	TUBL3	12p13.33	TUB like protein 3	This gene encodes a member of the tubby gene family of bipartite transcription factors. Members of this family have been identified in plants, vertebrates, and invertebrates, and they share a conserved N-terminal transcription activation region and a conserved C-terminal DNA and phosphatidylinositol-phosphate binding region. The encoded protein binds to phosphoinositides in the plasma membrane via its C-terminal region and probably functions as a membrane-bound transcription regulator that translocates to the nucleus in response to phosphoinositide hydrolysis, for instance, induced by G-protein-coupled-receptor signaling. It plays an important role in neuronal development and function. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2009]
TULP4	chr6	158232236	158511828	+	ENSG00000130338.12	protein_coding	TUSP	6q25.3	TUB like protein 4	Ubiquitous expression in brain (RPKM 5.2), testis (RPKM 3.3) and 25 other tissues
TUSC1	chr9	25676389	25678440	-	ENSG00000198680.4	protein_coding	CCDC89B|TSG-9|TSG9	9p21.2	tumor suppressor candidate 1	This gene is located within the region of chromosome 9p that harbors tumor suppressor genes critical in carcinogenesis. It is an intronless gene which is downregulated in non-small-cell lung cancer and small-cell lung cancer cell lines, suggesting that it may play a role in lung tumorigenesis. [provided by RefSeq, Jul 2008]
TUSC2	chr3	50320027	50328251	-	ENSG00000114383.9	protein_coding	C3orf11|FUS1|PAP|PDAP2	3p21.31	tumor suppressor 2, mitochondrial calcium regulator	This gene is a highly conserved lung cancer candidate gene. No other information about this gene is currently available. [provided by RefSeq, Jul 2008]
TUSC3	chr8	15417215	15766649	+	ENSG00000104723.20	protein_coding	D8S1992|M33|MRT22|MRT7|MagT2|N33|OST3A|SLC58A2	8p22	tumor suppressor candidate 3	This gene encodes a protein that has been associated with several biological functions including cellular magnesium uptake, protein glycosylation and embryonic development. This protein localizes to the endoplasmic reticulum and acts as a component of the oligosaccharyl transferase complex which is responsible for N-linked protein glycosylation. This gene is a candidate tumor suppressor gene. Homozygous mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation-7 and in the proliferation and invasiveness of several cancers including metastatic pancreatic cancer, ovarian cancer and glioblastoma multiform. [provided by RefSeq, Oct 2017]
TUT1	chr11	62575045	62592177	-	ENSG00000149016.15	protein_coding	PAPD2|RBM21|STARPAP|TENT1|TUTase|URLC6	11q12.3	terminal uridylyl transferase 1, U6 snRNA-specific	This gene encodes a nucleotidyl transferase that functions as both a terminal uridylyltransferase and a nuclear poly(A) polymerase. The encoded enzyme specifically adds and removes nucleotides from the 3 end of small nuclear RNAs and select mRNAs and may function in controlling gene expression and cell proliferation.[provided by RefSeq, Apr 2009]
TUT4	chr1	 52423275	52553463	-	ENSG00000134744	protein-coding	PAPD3|TENT3A|ZCCHC11	1p32.3	terminal uridylyl transferase 4	ZCCHC11 is an RNA uridyltransferase (EC 2.7.7.52) that uses UTP to add uridines to the 3-prime end of substrate RNA molecules (Jones et al., 2009 [PubMed 19701194]).[supplied by OMIM, Jan 2011]
TUT7	chr9	 86287733	86354410	-	ENSG00000083223	protein-coding	PAPD6|TENT3B|ZCCHC6	9q21.33	terminal uridylyl transferase 7	Ubiquitous expression in prostate (RPKM 7.8), skin (RPKM 6.8) and 25 other tissues
TVP23A	chr16	10760919	10818794	-	ENSG00000166676.14	protein_coding	FAM18A|YDR084C	16p13.13	trans-golgi network vesicle protein 23 homolog A	This gene encodes a membrane protein associated with the Golgi apparatus, which plays a crucial role in intracellular vesicular transport. The encoded protein is likely associated with the late (trans) Golgi compartments, which are involved in the delivery of secretory and membrane proteins to the endosome, lysosome or the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
TVP23B	chr17	18780995	18806714	+	ENSG00000171928.13	protein_coding	CGI-148|FAM18B|FAM18B1|NPD008|YDR084C	17p11.2	trans-golgi network vesicle protein 23 homolog B	Ubiquitous expression in thyroid (RPKM 19.1), adrenal (RPKM 15.3) and 25 other tissues
TVP23C	chr17	15502264	15563595	-	ENSG00000175106.16	protein_coding	FAM18B2	17p12	trans-golgi network vesicle protein 23 homolog C	Ubiquitous expression in thyroid (RPKM 7.5), adrenal (RPKM 5.9) and 25 other tissues
TWF1P1	chr17	29203426	29204474	-	ENSG00000178082.6	processed_pseudogene	A6ps1|PTK9P|PTK9P1	17q11.2	twinfilin 1 pseudogene 1	-
TWF2	chr3	52228610	52239260	-	ENSG00000247596.8	protein_coding	A6RP|A6r|MSTP011|PTK9L	3p21.2	twinfilin actin binding protein 2	The protein encoded by this gene was identified by its interaction with the catalytic domain of protein kinase C-zeta. The encoded protein contains an actin-binding site and an ATP-binding site. It is most closely related to twinfilin (PTK9), a conserved actin monomer-binding protein. [provided by RefSeq, Jul 2008]
TWIST1	chr7	19020991	19117672	-	ENSG00000122691.12	protein_coding	ACS3|BPES2|BPES3|CRS|CRS1|CSO|SCS|SWCOS|TWIST|bHLHa38	7p21.1	twist family bHLH transcription factor 1	This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis, as well as metastatic recurrence. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Jul 2020]
TWIST2	chr2	238848032	238910543	+	ENSG00000233608.3	protein_coding	AMS|BBRSAY|DERMO1|FFDD3|SETLSS|bHLHa39	2q37.3	twist family bHLH transcription factor 2	The protein encoded by this gene is a basic helix-loop-helix type transcription factor and shares similarity with Twist. This protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype during osteoblast development. This gene may be upregulated in certain cancers. Mutations in this gene cause focal facial dermal dysplasia 3, Setleis type. Two transcript variants encoding the same protein have been found. [provided by RefSeq, Apr 2014]
TWNK	chr10	100987367	100994401	+	ENSG00000107815.7	protein_coding	ATXN8|C10orf2|IOSCA|MTDPS7|PEO|PEO1|PEOA3|PRLTS5|SANDO|SCA8|TWINL	10q24.31	twinkle mtDNA helicase	This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5 to 3 direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]
TXK	chr4	48066393	48134256	-	ENSG00000074966.10	protein_coding	BTKL|PSCTK5|PTK4|RLK|TKL	4p12	TXK tyrosine kinase	Broad expression in lymph node (RPKM 5.7), spleen (RPKM 3.3) and 15 other tissues
TXLNA	chr1	32179686	32198285	+	ENSG00000084652.15	protein_coding	IL14|TXLN	1p35.2	taxilin alpha	Ubiquitous expression in testis (RPKM 17.8), skin (RPKM 14.9) and 25 other tissues
TXLNB	chr6	139240061	139292139	-	ENSG00000164440.14	protein_coding	C6orf198|LST001|MDP77|dJ522B19.2	6q24.1	taxilin beta	Biased expression in heart (RPKM 26.4), ovary (RPKM 5.2) and 4 other tissues
TXN	chr9	110243811	110256640	-	ENSG00000136810.12	protein_coding	TRDX|TRX|TRX1|Trx80	9q31.3	thioredoxin	The protein encoded by this gene acts as a homodimer and is involved in many redox reactions. The encoded protein is active in the reversible S-nitrosylation of cysteines in certain proteins, which is part of the response to intracellular nitric oxide. This protein is found in the cytoplasm. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
TXNDC11	chr16	11679080	11742878	-	ENSG00000153066.12	protein_coding	EFP1	16p13.13	thioredoxin domain containing 11	Ubiquitous expression in fat (RPKM 51.7), thyroid (RPKM 30.4) and 25 other tissues
TXNDC12	chr1	52020131	52056171	-	ENSG00000117862.11	protein_coding	AG1|AGR1|ERP16|ERP18|ERP19|PDIA16|TLP19|hAG-1|hTLP19	1p32.3	thioredoxin domain containing 12	This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. This protein localizes to the endoplasmic reticulum and has a single atypical active motif. The encoded protein is mainly involved in catalyzing native disulfide bond formation and displays activity similar to protein-disulfide isomerases. This protein may play a role in defense against endoplasmic reticulum stress. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]
TXNDC15	chr5	134873803	134901525	+	ENSG00000113621.14	protein_coding	BUG|C5orf14|UNQ335	5q31.1	thioredoxin domain containing 15	This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. [provided by RefSeq, Apr 2017]
TXNDC16	chr14	52430590	52552522	-	ENSG00000087301.8	protein_coding	ERp90|KIAA1344	14q22.1	thioredoxin domain containing 16	Ubiquitous expression in prostate (RPKM 12.7), brain (RPKM 6.3) and 25 other tissues
TXNDC17	chr17	6640758	6644541	+	ENSG00000129235.10	protein_coding	TRP14|TXNL5	17p13.1	thioredoxin domain containing 17	Ubiquitous expression in colon (RPKM 14.3), esophagus (RPKM 13.2) and 25 other tissues
TXNDC5	chr6	7881517	7910814	-	ENSG00000239264.8	protein_coding	ENDOPDI|ERP46|HCC-2|HCC2|PDIA15|STRF8|UNQ364	6p24.3	thioredoxin domain containing 5	This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal endoplasmic reticulum (ER)-signal sequence, three catalytically active thioredoxin domains and a C-terminal ER-retention sequence. Its expression is induced by hypoxia and its role may be to protect hypoxic cells from apoptosis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S5 gene. [provided by RefSeq, Dec 2016]
TXNDC9	chr2	99318982	99340702	-	ENSG00000115514.11	protein_coding	APACD|PHLP3	2q11.2	thioredoxin domain containing 9	The protein encoded by this gene is a member of the thioredoxin family. The exact function of this protein is not known but it is associated with cell differentiation. [provided by RefSeq, Jul 2008]
TXNIP	chr1	145992435	145996600	-	ENSG00000265972.5	protein_coding	ARRDC6|EST01027|HHCPA78|THIF|VDUP1	1q21.1	thioredoxin interacting protein	This gene encodes a thioredoxin-binding protein that is a member of the alpha arrestin protein family. Thioredoxin is a thiol-oxidoreductase that is a major regulator of cellular redox signaling which protects cells from oxidative stress. This protein inhibits the antioxidative function of thioredoxin resulting in the accumulation of reactive oxygen species and cellular stress. This protein also functions as a regulator of cellular metabolism and of endoplasmic reticulum (ER) stress. This protein may also function as a tumor suppressor. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
TXNL1	chr18	56597208	56651600	-	ENSG00000091164.12	protein_coding	HEL-S-114|TRP32|TXL-1|TXNL|Txl	18q21.31	thioredoxin like 1	Ubiquitous expression in thyroid (RPKM 57.8), testis (RPKM 14.4) and 25 other tissues
TXNL4B	chr16	72044289	72094431	-	ENSG00000140830.8	protein_coding	DLP|Dim2	16q22.2	thioredoxin like 4B	Ubiquitous expression in ovary (RPKM 7.1), testis (RPKM 6.7) and 25 other tissues
TXNP6	chr4	76958860	76959169	-	ENSG00000234036.4	processed_pseudogene	-	4q21.1	thioredoxin pseudogene 6	-
TXNRD2	chr22	19875517	19941992	-	ENSG00000184470.20	protein_coding	GCCD5|SELZ|TR|TR-BETA|TR3|TRXR2	22q11.21	thioredoxin reductase 2	The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes a mitochondrial form important for scavenging reactive oxygen species in mitochondria. It functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3 UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants encoding different isoforms, including a few localized in the cytosol and some lacking the C-terminal Sec residue, have been found for this gene. [provided by RefSeq, Jun 2017]
TXNRD3	chr3	126607052	126655155	-	ENSG00000197763.14	protein_coding	TGR|TR2|TR2IT1|TRXR3|TXNRD3IT1|TXNRD3NB|TXNRD3NT1	3q21.3	thioredoxin reductase 3	The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes the third TrxR, which unlike the other two isozymes, contains an additional N-terminal glutaredoxin (Grx) domain, and shows highest expression in testis. The Grx domain allows this isozyme to participate in both Trx and glutathione systems. It functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3 UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. Experimental evidence suggests the use of a non-AUG (CUG) codon as a translation initiation codon (PMID:20018845). [provided by RefSeq, Aug 2017]
TYK2	chr19	10350529	10380676	-	ENSG00000105397.13	protein_coding	IMD35|JTK1	19p13.2	tyrosine kinase 2	This gene encodes a member of the tyrosine kinase and, more specifically, the Janus kinases (JAKs) protein families. This protein associates with the cytoplasmic domain of type I and type II cytokine receptors and promulgate cytokine signals by phosphorylating receptor subunits. It is also a component of both the type I and type III interferon signaling pathways. As such, it may play a role in anti-viral immunity. A mutation in this gene has been associated with Immunodeficiency 35. [provided by RefSeq, Sep 2020]
TYMP	chr22	50525752	50530056	-	ENSG00000025708.13	protein_coding	ECGF|ECGF1|MEDPS1|MNGIE|MTDPS1|PDECGF|TP|hPD-ECGF	22q13.33	thymidine phosphorylase	This gene encodes an angiogenic factor which promotes angiogenesis in vivo and stimulates the in vitro growth of a variety of endothelial cells. It has a highly restricted target cell specificity acting only on endothelial cells. Mutations in this gene have been associated with mitochondrial neurogastrointestinal encephalomyopathy. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Apr 2012]
TYMS	chr18	657604	673578	+	ENSG00000176890.15	protein_coding	HST422|TMS|TS	18p11.32	thymidylate synthetase	Thymidylate synthase catalyzes the methylation of deoxyuridylate to deoxythymidylate using, 10-methylenetetrahydrofolate (methylene-THF) as a cofactor. This function maintains the dTMP (thymidine-5-prime monophosphate) pool critical for DNA replication and repair. The enzyme has been of interest as a target for cancer chemotherapeutic agents. It is considered to be the primary site of action for 5-fluorouracil, 5-fluoro-2-prime-deoxyuridine, and some folate analogs. Expression of this gene and that of a naturally occurring antisense transcript, mitochondrial enolase superfamily member 1 (GeneID:55556), vary inversely when cell-growth progresses from late-log to plateau phase. Polymorphisms in this gene may be associated with etiology of neoplasia, including breast cancer, and response to chemotherapy. [provided by RefSeq, Aug 2017]
TYRL	chr11	49405091	49415789	-	ENSG00000123447.6	unprocessed_pseudogene	-	11p11.12	tyrosinase like (pseudogene)	-
TYRO3	chr15	41557675	41583586	+	ENSG00000092445.11	protein_coding	BYK|Dtk|Etk-2|RSE|Rek|Sky|Tif	15q15.1	TYRO3 protein tyrosine kinase	The gene is part of a 3-member transmembrane receptor kinase receptor family with a processed pseudogene distal on chromosome 15. The encoded protein is activated by the products of the growth arrest-specific gene 6 and protein S genes and is involved in controlling cell survival and proliferation, spermatogenesis, immunoregulation and phagocytosis. The encoded protein has also been identified as a cell entry factor for Ebola and Marburg viruses. [provided by RefSeq, May 2010]
TYROBP	chr19	35904401	35908295	-	ENSG00000011600.11	protein_coding	DAP12|KARAP|PLOSL|PLOSL1	19q13.12	transmembrane immune signaling adaptor TYROBP	This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010]
TYRP1	chr9	12685439	12710290	+	ENSG00000107165.12	protein_coding	CAS2|CATB|GP75|OCA3|TRP|TRP1|TYRP|b-PROTEIN	9p23	tyrosinase related protein 1	This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq, Mar 2009]
TYW1	chr7	66995173	67239519	+	ENSG00000198874.12	protein_coding	RSAFD1|TYW1A|YPL207W	7q11.21	tRNA-yW synthesizing protein 1 homolog	Wybutosine (yW) is a hypermodified guanosine found in phenylalanine tRNA adjacent to the anticodon that stabilizes codon-anticodon interactions in the ribosome. In yeast, the homolog of this gene is essential for the synthesis of wybutosine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
TYW1B	chr7	72558744	72828198	-	ENSG00000277149.4	protein_coding	LINC00069|NCRNA00069|RSAFD2	7q11.22-q11.23	tRNA-yW synthesizing protein 1 homolog B	Wybutosine is a hypermodified guanosine found in phenylalanine tRNA. Wybutosine functions to stabilize codon-anticodon interactions during ribosome decoding and therefore supports the maintenance of the reading frame. In yeast, the homolog of this gene is essential for the synthesis of wybutosine. The human genome contains two closely related genes that putatively function in wybutosine synthesis. The open reading frame of this locus is disrupted in some individuals. Thus, this locus appears to be an evolving pseudogene, but may still be functional in some members of the population. [provided by RefSeq, Apr 2014]
TYW3	chr1	74733152	74766678	+	ENSG00000162623.15	protein_coding	C1orf171	1p31.1	tRNA-yW synthesizing protein 3 homolog	Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TYW3 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008]
TYW5	chr2	199929975	199955736	-	ENSG00000162971.10	protein_coding	C2orf60|hTYW5	2q33.1	tRNA-yW synthesizing protein 5	Ubiquitous expression in bone marrow (RPKM 2.6), thyroid (RPKM 2.0) and 25 other tissues
U2AF1	chr21	43092956	43107587	-	ENSG00000160201.11	protein_coding	FP793|RN|RNU2AF1|U2AF35|U2AFBP	21q22.3	U2 small nuclear RNA auxiliary factor 1	This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
U2AF1L4	chr19	35742464	35745445	-	ENSG00000161265.14	protein_coding	U2AF1-RS3|U2AF1L3|U2AF1L3V1|U2AF1RS3|U2af26	19q13.12	U2 small nuclear RNA auxiliary factor 1 like 4	Ubiquitous expression in spleen (RPKM 9.3), thyroid (RPKM 9.1) and 25 other tissues
U2AF2	chr19	55654146	55674715	+	ENSG00000063244.12	protein_coding	U2AF65	19q13.42	U2 small nuclear RNA auxiliary factor 2	U2 auxiliary factor (U2AF), comprised of a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the U2AF large subunit which contains a sequence-specific RNA-binding region with 3 RNA recognition motifs and an Arg/Ser-rich domain necessary for splicing. The large subunit binds to the polypyrimidine tract of introns early during spliceosome assembly. Multiple transcript variants have been detected for this gene, but the full-length natures of only two have been determined to date. [provided by RefSeq, Jul 2008]
U2SURP	chr3	142964497	143060546	+	ENSG00000163714.17	protein_coding	SR140|fSAPa	3q23	U2 snRNP associated SURP domain containing	Enables RNA binding activity. Predicted to be involved in RNA processing. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
U62631.5	chr19	35330843	35331920	+	ENSG00000269553.1	sense_intronic	-	-	-	-
U73166.2	chr3	50260303	50263358	+	ENSG00000230454.1	lincRNA	-	-	-	-
U91319.1	chr16	13246316	13562918	+	ENSG00000262801.5	lincRNA	-	-	-	-
U91324.1	chr2	8139402	8143269	+	ENSG00000229740.1	lincRNA	-	-	-	-
U91328.19	chr6	25992662	26001775	+	ENSG00000272462.2	lincRNA	-	-	-	-
U91328.21	chr6	25983812	25999167	-	ENSG00000272558.1	antisense	-	-	-	-
U91328.22	chr6	26013241	26013757	+	ENSG00000272810.1	lincRNA	-	-	-	-
UACA	chr15	70654554	70763593	-	ENSG00000137831.14	protein_coding	NUCLING	15q23	uveal autoantigen with coiled-coil domains and ankyrin repeats	This gene encodes a protein that contains ankyrin repeats and coiled coil domains and likely plays a role in apoptosis. Studies in rodents have implicated the encoded protein in the stimulation of apoptosis and the regulation of mammary gland involution, in which the mammary gland returns to its pre-pregnant state. This protein has also been proposed to negatively regulate apoptosis based on experiments in human cell lines in which the protein was shown to interact with PRKC apoptosis WT1 regulator protein, also known as PAR-4, and inhibit translocation of the PAR-4 receptor. Autoantibodies to this protein have been identified in human patients with panuveitis and Graves disease. Differential expression of this gene has been observed in various human cancers. [provided by RefSeq, May 2017]
UAP1L1	chr9	137077501	137084539	+	ENSG00000197355.10	protein_coding	-	9q34.3	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	-
UBA1	chrX	47190861	47215128	+	ENSG00000130985.16	protein_coding	A1S9|A1S9T|A1ST|AMCX1|CFAP124|GXP1|POC20|SMAX2|UBA1A|UBE1|UBE1X|VEXAS	Xp11.3	ubiquitin like modifier activating enzyme 1	The protein encoded by this gene catalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation. This gene complements an X-linked mouse temperature-sensitive defect in DNA synthesis, and thus may function in DNA repair. It is part of a gene cluster on chromosome Xp11.23. Alternatively spliced transcript variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]
UBA5	chr3	132654446	132678097	+	ENSG00000081307.12	protein_coding	DEE44|EIEE44|SCAR24|THIFP1|UBE1DC1	3q22.1	ubiquitin like modifier activating enzyme 5	This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1. [provided by RefSeq, Feb 2016]
UBA52	chr19	18571730	18577550	+	ENSG00000221983.7	protein_coding	CEP52|HUBCEP52|L40|RPL40	19p13.11	ubiquitin A-52 residue ribosomal protein fusion product 1	Ubiquitin is a highly conserved nuclear and cytoplasmic protein that has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene encodes a fusion protein consisting of ubiquitin at the N terminus and ribosomal protein L40 at the C terminus, a C-terminal extension protein (CEP). Multiple processed pseudogenes derived from this gene are present in the genome. [provided by RefSeq, Jul 2008]
UBA52P5	chr8	123236852	123237062	+	ENSG00000243498.2	processed_pseudogene	RPL40_2_948	8q24.13	ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 5	-
UBA52P6	chr9	22012155	22012536	+	ENSG00000215221.2	processed_pseudogene	RPL40_3_969	9p21.3	ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 6	-
UBA6	chr4	67612652	67701179	-	ENSG00000033178.12	protein_coding	E1-L2|MOP-4|UBE1L2	4q13.2	ubiquitin like modifier activating enzyme 6	Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM, Mar 2008]
UBA7	chr3	49805207	49813946	-	ENSG00000182179.12	protein_coding	D8|UBA1B|UBE1L|UBE2	3p21.31	ubiquitin like modifier activating enzyme 7	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme is a retinoid target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and apoptosis in acute promyelocytic leukemia, where it is involved in the conjugation of the ubiquitin-like interferon-stimulated gene 15 protein. [provided by RefSeq, Jul 2008]
UBAC1	chr9	135932969	135961380	-	ENSG00000130560.8	protein_coding	GBDR1|KPC2|UBADC1	9q34.3	UBA domain containing 1	Ubiquitous expression in bone marrow (RPKM 32.5), testis (RPKM 24.1) and 25 other tissues
UBAC2	chr13	99200774	99386434	+	ENSG00000134882.15	protein_coding	PHGDHL1	13q32.3	UBA domain containing 2	Ubiquitous expression in testis (RPKM 8.2), thyroid (RPKM 7.2) and 25 other tissues
UBAC2-AS1	chr13	99196377	99200710	-	ENSG00000228889.6	lincRNA	-	13q32.3	UBAC2 antisense RNA 1	-
UBALD1	chr16	4608883	4615027	-	ENSG00000153443.12	protein_coding	FAM100A|PP11303	16p13.3	UBA like domain containing 1	Ubiquitous expression in kidney (RPKM 10.6), liver (RPKM 8.5) and 25 other tissues
UBALD2	chr17	76265202	76271299	+	ENSG00000185262.8	protein_coding	FAM100B	17q25.1	UBA like domain containing 2	Ubiquitous expression in bone marrow (RPKM 45.5), small intestine (RPKM 20.8) and 25 other tissues
UBAP1	chr9	34179005	34252523	+	ENSG00000165006.13	protein_coding	NAG20|SPG80|UAP|UBAP|UBAP-1	9p13.3	ubiquitin associated protein 1	This gene is a member of the UBA domain family, whose members include proteins having connections to ubiquitin and the ubiquitination pathway. The ubiquitin associated domain is thought to be a non-covalent ubiquitin binding domain consisting of a compact three helix bundle. This particular protein originates from a gene locus in a refined region on chromosome 9 undergoing loss of heterozygosity in nasopharyngeal carcinoma (NPC). Taking into account its cytogenetic location, this UBA domain family member is being studies as a putative target for mutation in nasopharyngeal carcinomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
UBAP1L	chr15	65092770	65115197	-	ENSG00000246922.8	protein_coding	UBAP-1L	15q22.31	ubiquitin associated protein 1 like	Predicted to enable ubiquitin binding activity. Predicted to be involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway. Predicted to be part of ESCRT I complex. [provided by Alliance of Genome Resources, Apr 2022]
UBAP2	chr9	33921693	34048949	-	ENSG00000137073.21	protein_coding	UBAP-2	9p13.3	ubiquitin associated protein 2	The protein encoded by this gene contains a UBA (ubiquitin associated) domain, which is characteristic of proteins that function in the ubiquitination pathway. This gene may show increased expression in the adrenal gland and lymphatic tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
UBAP2L	chr1	154220179	154271510	+	ENSG00000143569.18	protein_coding	NICE-4|NICE4	1q21.3	ubiquitin associated protein 2 like	Ubiquitous expression in testis (RPKM 26.7), placenta (RPKM 21.3) and 25 other tissues
UBASH3A	chr21	42403447	42447681	+	ENSG00000160185.14	protein_coding	CLIP4|STS-2|TULA|TULA-1	21q22.3	ubiquitin associated and SH3 domain containing A	This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
UBASH3B	chr11	122655675	122814473	+	ENSG00000154127.9	protein_coding	STS-1|STS1|TULA-2|TULA2|p70	11q24.1	ubiquitin associated and SH3 domain containing B	This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor. [provided by RefSeq, Jul 2008]
UBB	chr17	16380798	16382745	+	ENSG00000170315.13	protein_coding	HEL-S-50	17p11.2	ubiquitin B	This gene encodes ubiquitin, one of the most conserved proteins known. Ubiquitin has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene consists of three direct repeats of the ubiquitin coding sequence with no spacer sequence. Consequently, the protein is expressed as a polyubiquitin precursor with a final amino acid after the last repeat. An aberrant form of this protein has been detected in patients with Alzheimers disease and Down syndrome. Pseudogenes of this gene are located on chromosomes 1, 2, 13, and 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
UBC	chr12	124911604	124917368	-	ENSG00000150991.14	protein_coding	HMG20	12q24.31	ubiquitin C	This gene represents a ubiquitin gene, ubiquitin C. The encoded protein is a polyubiquitin precursor. Conjugation of ubiquitin monomers or polymers can lead to various effects within a cell, depending on the residues to which ubiquitin is conjugated. Ubiquitination has been associated with protein degradation, DNA repair, cell cycle regulation, kinase modification, endocytosis, and regulation of other cell signaling pathways. [provided by RefSeq, Aug 2010]
UBD	chr6	29555515	29559925	-	ENSG00000213886.3	protein_coding	FAT10|GABBR1|UBD-3	6p22.1	ubiquitin D	This gene encodes a protein which contains two ubiquitin-like domains and appears to have similar function to ubiquitin. Through covalent attachment, the encoded protein targets other proteins for 26S proteasome degradation. This protein has been implicated to function in many cellular processes, including caspase-dependent apoptosis, formation of aggresomes, mitotic regulation, and dendritic cell maturation. Upregulation of this gene may promote inflammation in chronic kidney disease and has been observed in many cancer types. [provided by RefSeq, Aug 2017]
UBE2B	chr5	134371179	134391992	+	ENSG00000119048.7	protein_coding	E2-17kDa|HHR6B|HR6B|RAD6B|UBC2	5q31.1	ubiquitin conjugating enzyme E2 B	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair. Its protein sequence is 100% identical to the mouse, rat, and rabbit homologs, which indicates that this enzyme is highly conserved in eukaryotic evolution. [provided by RefSeq, Jul 2008]
UBE2C	chr20	45812576	45816957	+	ENSG00000175063.16	protein_coding	UBCH10|dJ447F3.2	20q13.12	ubiquitin conjugating enzyme E2 C	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is required for the destruction of mitotic cyclins and for cell cycle progression, and may be involved in cancer progression. Multiple transcript variants encoding different isoforms have been found for this gene. Pseudogenes of this gene have been defined on chromosomes 4, 14, 15, 18, and 19. [provided by RefSeq, Aug 2013]
UBE2CP2	chr18	22900486	22900995	-	ENSG00000265939.1	processed_pseudogene	-	18q11.2	ubiquitin conjugating enzyme E2 C pseudogene 2	-
UBE2D1	chr10	58334975	58370753	+	ENSG00000072401.14	protein_coding	E2(17)KB1|SFT|UBC4/5|UBCH5|UBCH5A	10q21.1	ubiquitin conjugating enzyme E2 D1	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is closely related to a stimulator of iron transport (SFT), and is up-regulated in hereditary hemochromatosis. It also functions in the ubiquitination of the tumor-suppressor protein p53 and the hypoxia-inducible transcription factor HIF1alpha by interacting with the E1 ubiquitin-activating enzyme and the E3 ubiquitin-protein ligases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
UBE2D2	chr5	139526431	139628433	+	ENSG00000131508.15	protein_coding	E2(17)KB2|PUBC1|UBC4|UBC4/5|UBCH4|UBCH5B	5q31.2	ubiquitin conjugating enzyme E2 D2	Regulated degradation of misfolded, damaged or short-lived proteins in eukaryotes occurs via the ubiquitin (Ub)-proteasome system (UPS). An integral part of the UPS system is the ubiquitination of target proteins and covalent linkage of Ub-containing proteins to form polymeric chains, marking them as targets for 26S proteasome-mediated degradation. Ubiquitination of proteins is mediated by a cascade of enzymes which includes E1 (ubiquitin activating), E2 (ubiquitin conjugating), and E3 (ubiquitin ligases) enzymes. This gene encodes a member of the E2 enzyme family. Substrates of this enzyme include the tumor suppressor protein p53 and peroxisomal biogenesis factor 5 (PEX5). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
UBE2D3	chr4	102794383	102868896	-	ENSG00000109332.19	protein_coding	E2(17)KB3|UBC4/5|UBCH5C	4q24	ubiquitin conjugating enzyme E2 D3	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme functions in the ubiquitination of the tumor-suppressor protein p53, which is induced by an E3 ubiquitin-protein ligase. [provided by RefSeq, Jan 2017]
UBE2D3-AS1	chr4	 102828055	102844106	+	-	ncRNA	-	4q24	UBE2D3 antisense RNA 1	-
UBE2D3P3	chr1	150800473	150801031	+	ENSG00000224690.2	processed_pseudogene	-	1q21.3	ubiquitin conjugating enzyme E2 D3 pseudogene 3	-
UBE2D4	chr7	43926438	43956136	+	ENSG00000078967.12	protein_coding	HBUCE1	7p13	ubiquitin conjugating enzyme E2 D4 (putative)	Ubiquitous expression in brain (RPKM 6.5), heart (RPKM 5.7) and 25 other tissues
UBE2E1	chr3	23805903	23891316	+	ENSG00000170142.11	protein_coding	UBCH6	3p24.2	ubiquitin conjugating enzyme E2 E1	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
UBE2E2	chr3	23203020	23591793	+	ENSG00000182247.9	protein_coding	UBCH8	3p24.3	ubiquitin conjugating enzyme E2 E2	Ubiquitous expression in brain (RPKM 1.5), fat (RPKM 1.2) and 25 other tissues
UBE2E2-DT	chr3	 23195070	23202993	-	ENSG00000233153	ncRNA	UBE2E2-AS1	3p24.3	UBE2E2 divergent transcript	-
UBE2E3	chr2	180967248	181076585	+	ENSG00000170035.15	protein_coding	UBCH9|UbcM2	2q31.3	ubiquitin conjugating enzyme E2 E3	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein shares 100% sequence identity with the mouse and rat counterparts, which indicates that this enzyme is highly conserved in eukaryotes. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2013]
UBE2F	chr2	237966827	238042782	+	ENSG00000184182.18	protein_coding	NCE2	2q37.3	ubiquitin conjugating enzyme E2 F (putative)	Ubiquitous expression in bone marrow (RPKM 11.8), thyroid (RPKM 10.6) and 25 other tissues
UBE2FP1	chr3	37143512	37143958	-	ENSG00000224080.1	processed_pseudogene	-	3p22.2	UBE2F pseudogene 1	-
UBE2G1	chr17	4269259	4366628	-	ENSG00000132388.12	protein_coding	E217K|UBC7|UBE2G	17p13.2	ubiquitin conjugating enzyme E2 G1	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family and catalyzes the covalent attachment of ubiquitin to other proteins. The protein may be involved in degradation of muscle-specific proteins. [provided by RefSeq, Jul 2008]
UBE2G2	chr21	44768580	44802019	-	ENSG00000184787.18	protein_coding	UBC7	21q22.3	ubiquitin conjugating enzyme E2 G2	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein shares 100% sequence identity with the mouse counterpart. This gene is ubiquitously expressed, with high expression seen in adult muscle. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
UBE2H	chr7	129830732	129952949	-	ENSG00000186591.11	protein_coding	E2-20K|GID3|UBC8|UBCH|UBCH2	7q32.2	ubiquitin conjugating enzyme E2 H	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein sequence is 100% identical to the mouse homolog and 98% identical to the frog and zebrafish homologs. Three alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms. [provided by RefSeq, Feb 2011]
UBE2I	chr16	1308880	1327018	+	ENSG00000103275.19	protein_coding	C358B7.1|P18|UBC9	16p13.3	ubiquitin conjugating enzyme E2 I	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Four alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
UBE2J1	chr6	89326625	89352848	-	ENSG00000198833.6	protein_coding	CGI-76|HSPC153|HSPC205|HSU93243|NCUBE-1|NCUBE1|UBC6|UBC6E|Ubc6p	6q15	ubiquitin conjugating enzyme E2 J1	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is located in the membrane of the endoplasmic reticulum (ER) and may contribute to quality control ER-associated degradation by the ubiquitin-proteasome system. [provided by RefSeq, Jul 2008]
UBE2J2	chr1	1253909	1273885	-	ENSG00000160087.20	protein_coding	NCUBE-2|NCUBE2|PRO2121	1p36.33	ubiquitin conjugating enzyme E2 J2	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is located in the membrane of the endoplasmic reticulum. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]
UBE2K	chr4	39698044	39782792	+	ENSG00000078140.13	protein_coding	E2-25K|HIP2|HYPG|LIG|UBC1	4p14	ubiquitin conjugating enzyme E2 K	The protein encoded by this gene belongs to the ubiquitin-conjugating enzyme family. This protein interacts with RING finger proteins, and it can ubiquitinate huntingtin, the gene product for Huntingtons disease. Known functions for this protein include a role in aggregate formation of expanded polyglutamine proteins and the suppression of apoptosis in polyglutamine diseases, a role in the dislocation of newly synthesized MHC class I heavy chains from the endoplasmic reticulum, and involvement in foam cell formation. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
UBE2L3	chr22	21549447	21624034	+	ENSG00000185651.14	protein_coding	E2-F1|L-UBC|UBCH7|UbcM4	22q11.21	ubiquitin conjugating enzyme E2 L3	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is demonstrated to participate in the ubiquitination of p53, c-Fos, and the NF-kB precursor p105 in vitro. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
UBE2L5	chr13	 30422493	30429758	+	ENSG00000236444	protein-coding	UBCH7N2|UBE2L5P	13q12.3	ubiquitin conjugating enzyme E2 L5	Predicted to enable ubiquitin conjugating enzyme activity and ubiquitin protein ligase binding activity. Predicted to be involved in protein K11-linked ubiquitination and ubiquitin-dependent protein catabolic process. Predicted to be part of ubiquitin ligase complex. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
UBE2L6	chr11	57551656	57568284	-	ENSG00000156587.15	protein_coding	RIG-B|UBCH8	11q12.1	ubiquitin conjugating enzyme E2 L6	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is highly similar in primary structure to the enzyme encoded by the UBE2L3 gene. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2011]
UBE2M	chr19	58555712	58558960	-	ENSG00000130725.7	protein_coding	UBC-RS2|UBC12|hUbc12	19q13.43	ubiquitin conjugating enzyme E2 M	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is linked with a ubiquitin-like protein, NEDD8, which can be conjugated to cellular proteins, such as Cdc53/culin. [provided by RefSeq, Jul 2008]
UBE2N	chr12	93405673	93442262	-	ENSG00000177889.9	protein_coding	HEL-S-71|UBC13|UBCHBEN; UBC13|UbcH-ben|UbcH13	12q22	ubiquitin conjugating enzyme E2 N	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Studies in mouse suggest that this protein plays a role in DNA postreplication repair. [provided by RefSeq, Jul 2008]
UBE2O	chr17	76389451	76453206	-	ENSG00000175931.12	protein_coding	E2-230K	17q25.1	ubiquitin conjugating enzyme E2 O	Ubiquitous expression in brain (RPKM 12.9), testis (RPKM 11.1) and 25 other tissues
UBE2Q1	chr1	154548577	154559028	-	ENSG00000160714.9	protein_coding	GTAP|NICE-5|NICE5|PRO3094|UBE2Q	1q21.3	ubiquitin conjugating enzyme E2 Q1	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein is 98% identical to the mouse counterpart. [provided by RefSeq, Jul 2008]
UBE2Q2	chr15	75843285	75901078	+	ENSG00000140367.11	protein_coding	-	15q24.2	ubiquitin conjugating enzyme E2 Q2	-
UBE2Q2L	chr15	84172490	84182234	+	ENSG00000259511.2	protein_coding	-	15q25.2	ubiquitin conjugating enzyme E2 Q2 like	-
UBE2Q2P1	chr15	84526781	84571216	-	ENSG00000189136.8	transcribed_unprocessed_pseudogene	UBE2QP1	15q25.2	ubiquitin conjugating enzyme E2 Q2 pseudogene 1	Ubiquitous expression in ovary (RPKM 3.7), testis (RPKM 2.5) and 25 other tissues
UBE2Q2P11	chr15	84412773	84421837	-	ENSG00000259538.1	transcribed_unprocessed_pseudogene	-	15q25.2	ubiquitin conjugating enzyme E2 Q2 pseudogene 11	-
UBE2Q2P2	chr15	82355142	82420075	+	ENSG00000259429.5	transcribed_unprocessed_pseudogene	UBE2Q2P3|UBE2QP2	15q25.2	ubiquitin conjugating enzyme E2 Q2 pseudogene 2	-
UBE2Q2P6	chr15	82445719	82454837	+	ENSG00000275695.1	transcribed_unprocessed_pseudogene	-	15q25.2	ubiquitin conjugating enzyme E2 Q2 pseudogene 6	-
UBE2QL1	chr5	6448623	6494909	+	ENSG00000215218.3	protein_coding	-	5p15.31	ubiquitin conjugating enzyme E2 Q family like 1	-
UBE2R2	chr9	33817567	33920404	+	ENSG00000107341.4	protein_coding	CDC34B|E2-CDC34B|UBC3B	9p13.3	ubiquitin conjugating enzyme E2 R2	Protein kinase CK2 is a ubiquitous and pleiotropic Ser/Thr protein kinase involved in cell growth and transformation. This gene encodes a protein similar to the E2 ubiquitin conjugating enzyme UBC3/CDC34. Studies suggest that CK2-dependent phosphorylation of this ubiquitin-conjugating enzyme functions by regulating beta-TrCP substrate recognition and induces its interaction with beta-TrCP, enhancing beta-catenin degradation. [provided by RefSeq, Jul 2008]
UBE2R2-AS1	chr9	33785950	33818795	-	ENSG00000235481.2	antisense	-	9p13.3	UBE2R2 antisense RNA 1	-
UBE2U	chr1	64203627	64267368	+	ENSG00000177414.13	protein_coding	-	1p31.3	ubiquitin conjugating enzyme E2 U	-
UBE2V1	chr20	50081124	50115959	-	ENSG00000244687.11	protein_coding	CIR1|CROC-1|CROC1|UBE2V|UEV-1|UEV1|UEV1A	20q13.13	ubiquitin conjugating enzyme E2 V1	Ubiquitin-conjugating E2 enzyme variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene is located in the nucleus and can cause transcriptional activation of the human FOS proto-oncogene. It is thought to be involved in the control of differentiation by altering cell cycle behavior. Alternatively spliced transcript variants encoding multiple isoforms have been described for this gene, and multiple pseudogenes of this gene have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (Kua-UEV), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Apr 2012]
UBE2V1P1	chr20	3361880	3362324	-	ENSG00000226632.1	processed_pseudogene	dJ687F11.3	20p13	UBE2V1 pseudogene 1	-
UBE2V2	chr8	48008400	48064708	+	ENSG00000169139.11	protein_coding	DDVIT1|DDVit-1|EDAF-1|EDPF-1|EDPF1|MMS2|UEV-2|UEV2	8q11.21	ubiquitin conjugating enzyme E2 V2	Ubiquitin-conjugating enzyme E2 variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene also shares homology with ubiquitin-conjugating enzyme E2 variant 1 and yeast MMS2 gene product. It may be involved in the differentiation of monocytes and enterocytes. [provided by RefSeq, Jul 2008]
UBE2V2P3	chr1	11278616	11279351	-	ENSG00000238199.1	processed_pseudogene	-	1p36.22	ubiquitin conjugating enzyme E2 V2 pseudogene 3	-
UBE2W	chr8	73780097	73878910	-	ENSG00000104343.19	protein_coding	UBC-16|UBC16	8q21.11	ubiquitin conjugating enzyme E2 W	This gene encodes a nuclear-localized ubiquitin-conjugating enzyme (E2) that, along with ubiquitin-activating (E1) and ligating (E3) enzymes, coordinates the addition of a ubiquitin moiety to existing proteins. The encoded protein promotes the ubiquitination of Fanconi anemia complementation group proteins and may be important in the repair of DNA damage. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
UBE2Z	chr17	48908369	48929056	+	ENSG00000159202.17	protein_coding	HOYS7|USE1	17q21.32	ubiquitin conjugating enzyme E2 Z	This gene encodes an enzyme which ubiquitinates proteins which participate in signaling pathways and apoptosis. [provided by RefSeq, Feb 2012]
UBE3B	chr12	109477402	109536705	+	ENSG00000151148.13	protein_coding	BPIDS|KOS	12q24.11	ubiquitin protein ligase E3B	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: E1 ubiquitin-activating enzymes, E2 ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases. This gene encodes a member of the E3 ubiquitin-conjugating enzyme family which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and transfers the ubiquitin to the targeted substrates. A HECT (homology to E6-AP C-terminus) domain in the C-terminus of the longer isoform of this protein is the catalytic site of ubiquitin transfer and forms a complex with E2 conjugases. Shorter isoforms of this protein which lack the C-terminal HECT domain are therefore unlikely to bind E2 enzymes. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2012]
UBE3C	chr7	157138913	157269372	+	ENSG00000009335.17	protein_coding	HECTH2	7q36.3	ubiquitin protein ligase E3C	Ubiquitous expression in testis (RPKM 21.1), esophagus (RPKM 16.8) and 25 other tissues
UBE3D	chr6	82892398	83065841	-	ENSG00000118420.16	protein_coding	C6orf157|H10BH|UBE2CBP|YJR141W	6q14.1	ubiquitin protein ligase E3D	Low expression observed in reference dataset
UBE4A	chr11	118359585	118399211	+	ENSG00000110344.9	protein_coding	E4|UBOX2|UFD2	11q23.3	ubiquitination factor E4A	This gene encodes a member of the U-box ubiquitin ligase family. The encoded protein is involved in multiubiquitin chain assembly and plays a critical role in chromosome condensation and separation through the polyubiquitination of securin. Autoantibodies against the encoded protein may be markers for scleroderma and Crohns disease. A pseudogene of this gene is located on the long arm of chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
UBE4B	chr1	10032832	10181239	+	ENSG00000130939.18	protein_coding	E4|HDNB1|UBOX3|UFD2|UFD2A	1p36.22	ubiquitination factor E4B	The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. This gene is also the strongest candidate in the neuroblastoma tumor suppressor genes. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
UBFD1	chr16	23557362	23574389	+	ENSG00000103353.15	protein_coding	UBPH	16p12.2	ubiquitin family domain containing 1	Ubiquitous expression in testis (RPKM 14.6), thyroid (RPKM 8.8) and 25 other tissues
UBIAD1	chr1	11273206	11296049	+	ENSG00000120942.13	protein_coding	SCCD|TERE1	1p36.22	UbiA prenyltransferase domain containing 1	This gene encodes a protein thought to be involved in cholesterol and phospholipid metabolism. Mutations in this gene are associated with Schnyder crystalline corneal dystrophy. [provided by RefSeq, Oct 2008]
UBL4B	chr1	110112468	110113945	+	ENSG00000186150.4	protein_coding	-	1p13.3	ubiquitin like 4B	-
UBL5	chr19	9827892	9830115	+	ENSG00000198258.10	protein_coding	HUB1	19p13.2	ubiquitin like 5	This gene encodes a member of a group of proteins similar to ubiquitin. The encoded protein is not thought to degrade proteins like ubiquitin but to affect their function through being bound to target proteins by an isopeptide bond. The gene product has been studied as a link to predisposition to obesity based on its expression in Psammomys obesus, the fat sand rat, which is an animal model for obesity studies. Variation in this gene was found to be significantly associated with some metabolic traits (PMID: 15331561) but not associated with childhood obesity (PMID: 19189687). Pseudogenes of this gene are located on chromosomes 3, 5 and 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013]
UBL5P2	chr17	32227890	32228108	-	ENSG00000266282.1	processed_pseudogene	-	17q11.2	ubiquitin like 5 pseudogene 2	-
UBL7	chr15	74445977	74461182	-	ENSG00000138629.15	protein_coding	BMSC-UbP|TCBA1	15q24.1	ubiquitin like 7	Ubiquitous expression in testis (RPKM 17.2), brain (RPKM 14.5) and 25 other tissues
UBL7-DT	chr15	 74461265	74481292	+	ENSG00000247240	ncRNA	UBL7-AS1	15q24.1	UBL7 divergent transcript	-
UBLCP1	chr5	159263081	159286040	+	ENSG00000164332.7	protein_coding	CPUB1	5q33.3	ubiquitin like domain containing CTD phosphatase 1	Ubiquitous expression in testis (RPKM 19.2), brain (RPKM 17.4) and 25 other tissues
UBN1	chr16	4846665	4882360	+	ENSG00000118900.14	protein_coding	VT|VT4	16p13.3	ubinuclein 1	Cellular senescence is a hallmark of tumor suppression and tissue aging. Senescent cells contain domains of heterochromatin, called senescence-associated heterochromatin foci (SAHF), that repress proliferation-promoting genes. The protein encoded by this gene binds to proliferation-promoting genes and is required for SAHF formation, enhancing methylation of histone H3. [provided by RefSeq, Oct 2016]
UBN2	chr7	139230356	139308236	+	ENSG00000157741.14	protein_coding	-	7q34	ubinuclein 2	-
UBOX5	chr20	3107573	3160196	-	ENSG00000185019.16	protein_coding	RNF37|UBCE7IP5|UIP5|hUIP5	20p13	U-box domain containing 5	This gene encodes a U-box domain containing protein. The encoded protein interacts with E2 enzymes and may play a role in the ubiquitination pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
UBOX5-AS1	chr20	3106913	3150867	+	ENSG00000235958.5	antisense	-	20p13	UBOX5 antisense RNA 1	-
UBP1	chr3	33388336	33441371	-	ENSG00000153560.11	protein_coding	LBP-1B|LBP-1a|LBP1A|LBP1B	3p22.3	upstream binding protein 1	Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of viral transcription and positive regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
UBQLN1	chr9	83659963	83708203	-	ENSG00000135018.13	protein_coding	DA41|DSK2|PLIC-1|UBQN|XDRP1	9q21.32|9q21.2-q21.3	ubiquilin 1	This gene encodes an ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and thus are thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This ubiquilin has also been shown to modulate accumulation of presenilin proteins, and it is found in lesions associated with Alzheimers and Parkinsons disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
UBQLN4	chr1	156035301	156053794	-	ENSG00000160803.7	protein_coding	A1U|A1Up|C1orf6|CIP75|UBIN	1q22	ubiquilin 4	Ubiquitous expression in brain (RPKM 15.5), endometrium (RPKM 13.7) and 25 other tissues
UBQLN4P1	chr3	148985868	148987668	-	ENSG00000241627.3	processed_pseudogene	C3orf12|UBQLN4P	3q24	ubiquilin 4 pseudogene 1	-
UBQLNL	chr11	5514393	5516705	-	ENSG00000175518.6	protein_coding	-	11p15.4	ubiquilin like	-
UBR1	chr15	42942897	43106113	-	ENSG00000159459.11	protein_coding	JBS	15q15.2	ubiquitin protein ligase E3 component n-recognin 1	The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. [provided by RefSeq, Jul 2008]
UBR2	chr6	42564062	42693504	+	ENSG00000024048.10	protein_coding	C6orf133|bA49A4.1|dJ242G1.1|dJ392M17.3	6p21.1	ubiquitin protein ligase E3 component n-recognin 2	This gene encodes an E3 ubiquitin ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
UBR3	chr2	169827458	170084131	+	ENSG00000144357.16	protein_coding	ZNF650	2q31.1	ubiquitin protein ligase E3 component n-recognin 3	Ubiquitous expression in brain (RPKM 13.7), thyroid (RPKM 11.5) and 25 other tissues
UBR4	chr1	19074506	19210276	-	ENSG00000127481.14	protein_coding	RBAF600|ZUBR1|p600	1p36.13	ubiquitin protein ligase E3 component n-recognin 4	The protein encoded by this gene is an E3 ubiquitin-protein ligase that interacts with the retinoblastoma-associated protein in the nucleus and with calcium-bound calmodulin in the cytoplasm. The encoded protein appears to be a cytoskeletal component in the cytoplasm and part of the chromatin scaffold in the nucleus. In addition, this protein is a target of the human papillomavirus type 16 E7 oncoprotein. [provided by RefSeq, Aug 2010]
UBR5	chr8	102253012	102412841	-	ENSG00000104517.12	protein_coding	DD5|EDD|EDD1|HYD	8q22.3	ubiquitin protein ligase E3 component n-recognin 5	This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation. [provided by RefSeq, Jul 2008]
UBR7	chr14	93207056	93229215	+	ENSG00000012963.14	protein_coding	C14orf130|LICAS	14q32.12	ubiquitin protein ligase E3 component n-recognin 7	This gene encodes a UBR box-containing protein that belongs to the E3 ubiquitin ligase family. The protein also contains a plant homeodomain (PHD) in the C-terminus. In mammals, the encoded protein recognizes N-degrons, the destabilizing N-terminal residues of short-lived proteins, which results in ubiquitinylation, and proteolysis via the proteasome. [provided by RefSeq, Jul 2016]
UBTD1	chr10	97498868	97571209	+	ENSG00000165886.4	protein_coding	-	10q24.1-q24.2	ubiquitin domain containing 1	Broad expression in testis (RPKM 17.5), lung (RPKM 11.7) and 22 other tissues
UBTD2	chr5	172209640	172284071	-	ENSG00000168246.5	protein_coding	DCUBP	5q35.1	ubiquitin domain containing 2	Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
UBTF	chr17	44205033	44221626	-	ENSG00000108312.14	protein_coding	CONDBA|NOR-90|UBF|UBF-1|UBF1|UBF2	17q21.31	upstream binding transcription factor	This gene encodes a member of the HMG-box DNA-binding protein family. The encoded protein plays a critical role in ribosomal RNA transcription as a key component of the pre-initiation complex, mediating the recruitment of RNA polymerase I to rDNA promoter regions. The encoded protein may also play important roles in chromatin remodeling and pre-rRNA processing, and its activity is regulated by both phosphorylation and acetylation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the short arm of chromosomes 3, 11 and X and the long arm of chromosome 11. [provided by RefSeq, Aug 2011]
UBTFL1	chr11	90085950	90087131	+	ENSG00000255009.4	protein_coding	C11orf27|HMGPI	11q14.3	upstream binding transcription factor like 1	UBTFL1 is a preimplantation-specific gene and is involved in early development, implantation, and embryonic stem (ES) cell derivation (summary by Yamada et al., 2010 [PubMed 19915186]).[supplied by OMIM, Jan 2011]
UBTFL6	chr2	97636780	97637803	-	ENSG00000228970.6	unprocessed_pseudogene	-	2q11.2	UBTF like 6 (pseudogene)	-
UBTFL9	chr11	49133653	49134800	-	ENSG00000254567.2	processed_pseudogene	-	11p11.12	UBTF like 9 (pseudogene)	-
UBXN1	chr11	62676498	62679117	-	ENSG00000162191.13	protein_coding	2B28|SAKS1|UBXD10	11q12.3	UBX domain protein 1	Ubiquitous expression in ovary (RPKM 47.6), fat (RPKM 40.5) and 25 other tissues
UBXN10	chr1	20186085	20196048	+	ENSG00000162543.5	protein_coding	UBXD3	1p36.12	UBX domain protein 10	Broad expression in testis (RPKM 9.4), lung (RPKM 3.6) and 16 other tissues
UBXN11	chr1	26281328	26318363	-	ENSG00000158062.20	protein_coding	COA-1|PP2243|SOC|SOCI|UBXD5	1p36.11	UBX domain protein 11	This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3 coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
UBXN2A	chr2	23927285	24004909	+	ENSG00000173960.13	protein_coding	UBXD4	2p23.3	UBX domain protein 2A	Ubiquitous expression in fat (RPKM 3.2), esophagus (RPKM 2.9) and 25 other tissues
UBXN2B	chr8	58411264	58451501	+	ENSG00000215114.8	protein_coding	p37	8q12.1	UBX domain protein 2B	Ubiquitous expression in brain (RPKM 9.6), thyroid (RPKM 8.2) and 25 other tissues
UBXN4	chr2	135741619	135785055	+	ENSG00000144224.16	protein_coding	UBXD2|UBXDC1|erasin	2q21.3	UBX domain protein 4	UBXD2 is an integral membrane protein of the endoplasmic reticulum (ER) that binds valosin-containing protein (VCP; MIM 601023) and promotes ER-associated protein degradation (ERAD) (Liang et al., 2006 [PubMed 16968747]).[supplied by OMIM, Mar 2008]
UBXN6	chr19	4444999	4457822	-	ENSG00000167671.11	protein_coding	UBXD1|UBXDC2	19p13.3	UBX domain protein 6	Ubiquitous expression in testis (RPKM 49.0), kidney (RPKM 36.6) and 25 other tissues
UBXN7	chr3	196347662	196432474	-	ENSG00000163960.11	protein_coding	UBXD7	3q29	UBX domain protein 7	Ubiquitous expression in bone marrow (RPKM 8.3), testis (RPKM 7.0) and 25 other tissues
UBXN7-AS1	chr3	196431385	196432530	+	ENSG00000225822.4	antisense	-	3q29	UBXN7 antisense RNA 1	-
UCA1	chr19	15828961	15836320	+	ENSG00000214049.6	processed_transcript	CUDR|LINC00178|NCRNA00178|UCAT1|onco-lncRNA-36	19p13.12	urothelial cancer associated 1	This gene produces a long non-coding RNA that was found to be upregulated in bladder cancer and plays a regulatory role in cell proliferation. This transcript regulates several genes, including CREB (cAMP responsive element binding protein). Expression of this transcript is regulated by CCAAT/enhancer-binding protein-alpha. [provided by RefSeq, Dec 2017]
UCHL3	chr13	75549480	75606020	+	ENSG00000118939.17	protein_coding	UCH-L3	13q22.2	ubiquitin C-terminal hydrolase L3	The protein encoded by this gene is a member of the deubiquitinating enzyme family. Members of this family are proteases that catalyze the removal of ubiquitin from polypeptides and are divided into five classes, depending on the mechanism of catalysis. This protein may hydrolyze the ubiquitinyl-N-epsilon amide bond of ubiquitinated proteins to regenerate ubiquitin for another catalytic cycle. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
UCHL5	chr1	193012250	193060080	-	ENSG00000116750.13	protein_coding	CGI-70|INO80R|UCH-L5|UCH37	1q31.2	ubiquitin C-terminal hydrolase L5	Enables endopeptidase inhibitor activity; proteasome binding activity; and thiol-dependent deubiquitinase. Involved in negative regulation of proteasomal ubiquitin-dependent protein catabolic process; positive regulation of smoothened signaling pathway; and protein deubiquitination. Located in cytosol; nucleolus; and nucleoplasm. Colocalizes with Ino80 complex. [provided by Alliance of Genome Resources, Apr 2022]
UCK1	chr9	131523801	131531268	-	ENSG00000130717.12	protein_coding	URK1	9q34.13	uridine-cytidine kinase 1	This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of deoxyribonucleosides or purine ribonucleosides. This enzyme can also phosphorylate uridine and cytidine analogs and uses both ATP and GTP as a phosphate donor. Alternative splicing results in multiple splice variants encoding distinct isoforms. [provided by RefSeq, May 2012]
UCK2	chr1	165827531	165911618	+	ENSG00000143179.14	protein_coding	TSA903|UK|UMPK	1q24.1	uridine-cytidine kinase 2	This gene encodes a pyrimidine ribonucleoside kinase. The encoded protein (EC 2.7.1.48) catalyzes phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP), respectively.[provided by RefSeq, Oct 2010]
UCKL1	chr20	63939829	63956415	-	ENSG00000198276.15	protein_coding	UCK1L|URKL1	20q13.33	uridine-cytidine kinase 1 like 1	The protein encoded by this gene is a uridine kinase. Uridine kinases catalyze the phosphorylation of uridine to uridine monophosphate. This protein has been shown to bind to Epstein-Barr nuclear antigen 3 as well as natural killer lytic-associated molecule. Ubiquitination of this protein is enhanced by the presence of natural killer lytic-associated molecule. In addition, protein levels decrease in the presence of natural killer lytic-associated molecule, suggesting that association with natural killer lytic-associated molecule results in ubiquitination and subsequent degradation of this protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
UCKL1-AS1	chr20	63953384	63956985	+	ENSG00000280213.1	antisense	UCKL1-AS|UCKL1AS|UCKL1OS	20q13.33	UCKL1 antisense RNA 1	Low expression observed in reference dataset
UCN	chr2	27307400	27308445	-	ENSG00000163794.6	protein_coding	UI|UROC	2p23.3	urocortin	This gene encodes a member of the sauvagine/corticotropin-releasing factor/urotensin I family. The encoded preproprotein is proteolytically processed to generate the mature peptide, an endogenous ligand for both corticotropin-releasing factor receptor 1 and corticotropin-releasing factor receptor 2. In the brain this peptide may be responsible for the effects of stress on appetite. This peptide may also play a role in mood disorders, neurodegeneration, and skeletal system disorders. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin-2. [provided by RefSeq, Feb 2016]
UCN2	chr3	48561727	48563773	-	ENSG00000145040.3	protein_coding	SRP|UCN-II|UCNI|UR|URP	3p21.31	urocortin 2	This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II. [provided by RefSeq, Jul 2008]
UCN3	chr10	5365009	5374692	+	ENSG00000178473.6	protein_coding	SCP|SPC|UCNIII	10p15.1	urocortin 3	This gene encodes a member of the sauvagine/corticotropin-releasing factor/urotensin I family of proteins. The encoded preproprotein is proteolytically processed to generate the mature peptide hormone, which is secreted by pancreatic beta and alpha cells. This hormone is an endogenous ligand for corticotropin-releasing factor receptor 2 and may regulate insulin secretion in response to plasma glucose levels. Patients with type 2 diabetes exhibit reduced levels of the encoded protein in beta cells. In the brain, the encoded protein may be responsible for the effects of stress on appetite. [provided by RefSeq, May 2016]
UCP1	chr4	140559434	140568805	-	ENSG00000109424.3	protein_coding	SLC25A7|UCP	4q31.1	uncoupling protein 1	Mitochondrial uncoupling proteins (UCP) are members of the family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed only in brown adipose tissue, a specialized tissue which functions to produce heat. [provided by RefSeq, Jul 2008]
UCP2	chr11	73974667	73983307	-	ENSG00000175567.8	protein_coding	BMIQ4|SLC25A8|UCPH	11q13.4	uncoupling protein 2	Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed in many tissues, with the greatest expression in skeletal muscle. It is thought to play a role in nonshivering thermogenesis, obesity and diabetes. Chromosomal order is 5-UCP3-UCP2-3. [provided by RefSeq, Jul 2008]
UCP3	chr11	74000281	74009435	-	ENSG00000175564.12	protein_coding	SLC25A9	11q13.4	uncoupling protein 3	Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. The different UCPs have tissue-specific expression; this gene is primarily expressed in skeletal muscle. This genes protein product is postulated to protect mitochondria against lipid-induced oxidative stress. Expression levels of this gene increase when fatty acid supplies to mitochondria exceed their oxidation capacity and the protein enables the export of fatty acids from mitochondria. UCPs contain the three solcar protein domains typically found in MACPs. Two splice variants have been found for this gene.[provided by RefSeq, Nov 2008]
UEVLD	chr11	18529609	18588747	-	ENSG00000151116.16	protein_coding	ATTP|UEV3	11p15.1	UEV and lactate/malate dehyrogenase domains	Ubiquitous expression in colon (RPKM 4.6), thyroid (RPKM 3.9) and 25 other tissues
UFC1	chr1	161152776	161158856	+	ENSG00000143222.11	protein_coding	HSPC155|NEDSG	1q23.3	ubiquitin-fold modifier conjugating enzyme 1	UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Mar 2008]
UFD1	chr22	 19449911	19479193	-	ENSG00000070010	protein-coding	UFD1L	22q11.21	ubiquitin recognition factor in ER associated degradation 1	The protein encoded by this gene forms a complex with two other proteins, nuclear protein localization-4 and valosin-containing protein, and this complex is necessary for the degradation of ubiquitinated proteins. In addition, this complex controls the disassembly of the mitotic spindle and the formation of a closed nuclear envelope after mitosis. Mutations in this gene have been associated with Catch 22 syndrome as well as cardiac and craniofacial defects. Alternative splicing results in multiple transcript variants encoding different isoforms. A related pseudogene has been identified on chromosome 18. [provided by RefSeq, Jun 2009]
UFL1	chr6	96521595	96555276	+	ENSG00000014123.9	protein_coding	KIAA0776|Maxer|NLBP|RCAD	6q16.1	UFM1 specific ligase 1	Ubiquitous expression in thyroid (RPKM 19.4), prostate (RPKM 15.2) and 25 other tissues
UFM1	chr13	38349849	38363619	+	ENSG00000120686.11	protein_coding	BM-002|C13orf20|HLD14	13q13.3	ubiquitin fold modifier 1	UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Dec 2008]
UFSP1	chr7	100888723	100889718	-	ENSG00000176125.4	protein_coding	UFSP	7q22.1	UFM1 specific peptidase 1 (inactive)	This gene encodes a protein that is similar to other Ufm1-specific proteases. Studies in mouse determined that Ufsp1 releases Ufm1 (ubiquitin-fold modifier 1) from its bound conjugated complexes which also makes it into an active form. Because the human UFSP1 protein is shorter on the N-terminus and lacks a conserved Cys active site, it is predicted to be non-functional.[provided by RefSeq, Nov 2009]
UFSP2	chr4	185399540	185425985	-	ENSG00000109775.10	protein_coding	BHD|C4orf20|SEMDDR	4q35.1	UFM1 specific peptidase 2	This gene encodes a highly conserved cysteine protease. The protein cleaves two C-terminal residues from ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein. Activation of ubiquitin-fold modifier 1 by the encoded protein exposes a C-terminal glycine residue that allows interaction with other proteins and transfer to its target protein. An allelic variant of this gene has been associated with Beukes hip dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
UGCG	chr9	111896766	111935369	+	ENSG00000148154.9	protein_coding	GCS|GLCT1	9q31.3	UDP-glucose ceramide glucosyltransferase	This gene encodes an enzyme that catalyzes the first glycosylation step in the biosynthesis of glycosphingolipids, which are membrane components containing lipid and sugar moieties. The product of this reaction is glucosylceramide, which is the core structure of many glycosphingolipids. [provided by RefSeq, Dec 2014]
UGDH	chr4	39498755	39528311	-	ENSG00000109814.11	protein_coding	DEE84|EIEE84|GDH|UDP-GlcDH|UDPGDH|UGD	4p14	UDP-glucose 6-dehydrogenase	The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate. These glycosylated compounds are common components of the extracellular matrix and likely play roles in signal transduction, cell migration, and cancer growth and metastasis. The expression of this gene is up-regulated by transforming growth factor beta and down-regulated by hypoxia. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
UGDH-AS1	chr4	39528019	39594707	+	ENSG00000249348.1	antisense	-	4p14	UGDH antisense RNA 1	-
UGGT1	chr2	128091200	128195677	+	ENSG00000136731.12	protein_coding	HUGT1|UGCGL1|UGT1	2q14.3	UDP-glucose glycoprotein glucosyltransferase 1	UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]
UGGT2	chr13	95801580	96053482	-	ENSG00000102595.19	protein_coding	HUGT2|UGCGL2|UGT2	13q32.1	UDP-glucose glycoprotein glucosyltransferase 2	UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]
UGP2	chr2	63840940	63891562	+	ENSG00000169764.15	protein_coding	DEE83|EIEE83|SVUGP2|UDPG|UDPGP|UDPGP2|UGP1|UGPP1|UGPP2|pHC379	2p15	UDP-glucose pyrophosphorylase 2	The enzyme encoded by this gene is an important intermediary in mammalian carbohydrate interconversions. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP-glucose and MgPPi. In liver and muscle tissue, UDP-glucose is a direct precursor of glycogen; in lactating mammary gland it is converted to UDP-galactose which is then converted to lactose. The eukaryotic enzyme has no significant sequence similarity to the prokaryotic enzyme. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
UGT1A1	chr2	233760248	233773299	+	ENSG00000241635.7	protein_coding	BILIQTL1|GNT1|HUG-BR1|UDPGT|UDPGT 1-1|UGT1|UGT1A	2q37.1	UDP glucuronosyltransferase family 1 member A1	This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5 exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The preferred substrate of this enzyme is bilirubin, although it also has moderate activity with simple phenols, flavones, and C18 steroids. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome. [provided by RefSeq, Jul 2008]
UGT1A10	chr2	233636454	233773305	+	ENSG00000242515.5	protein_coding	GNT1|UDPGT|UGT-1A|UGT-1J|UGT1|UGT1-01|UGT1-10|UGT1.1|UGT1.10|UGT1A|UGT1A1|UGT1J|hUG-BR1	2q37.1	UDP glucuronosyltransferase family 1 member A10	This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5 exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity on mycophenolic acid, coumarins, and quinolines. [provided by RefSeq, Jul 2008]
UGT1A3	chr2	233729108	233773299	+	ENSG00000243135.6	protein_coding	UDPGT|UDPGT 1-3|UGT-1C|UGT1-03|UGT1.3|UGT1A3S|UGT1C	2q37.1	UDP glucuronosyltransferase family 1 member A3	This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5 exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. Substrates of this enzyme include estrone, 2-hydroxyestrone, and metabolites of benzo alpha-pyrene. [provided by RefSeq, Jul 2008]
UGT1A4	chr2	233718778	233773299	+	ENSG00000244474.5	protein_coding	GNT1|HUG-BR2|UDPGT|UDPGT 1-4|UGT-1A|UGT-1D|UGT1|UGT1-01|UGT1-04|UGT1.1|UGT1.4|UGT1A|UGT1A1|UGT1A4S|UGT1D|hUG-BR1	2q37.1	UDP glucuronosyltransferase family 1 member A4	This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5 exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. This enzyme has some glucuronidase activity towards bilirubin, although is is more active on amines, steroids, and sapogenins. [provided by RefSeq, Jul 2008]
UGT1A6	chr2	233691607	233773300	+	ENSG00000167165.18	protein_coding	GNT1|HLUGP|HLUGP1|UDPGT|UDPGT 1-6|UGT-1A|UGT-1C|UGT-1E|UGT-1F|UGT1|UGT1-01|UGT1-03|UGT1-05|UGT1-06|UGT1.1|UGT1.3|UGT1.5|UGT1.6|UGT1A|UGT1A1|UGT1A3|UGT1A5|UGT1A6S|UGT1C|UGT1E|UGT1F|hUG-BR1	2q37.1	UDP glucuronosyltransferase family 1 member A6	This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5 exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene is active on phenolic and planar compounds. Alternative splicing in the unique 5 end of this gene results in two transcript variants. [provided by RefSeq, Jul 2008]
UGT1A7	chr2	233681938	233773299	+	ENSG00000244122.2	protein_coding	GNT1|UDPGT|UDPGT 1-7|UGT-1A|UGT-1G|UGT1|UGT1-01|UGT1-07|UGT1.1|UGT1.7|UGT1A|UGT1A1|UGT1G|hUG-BR1	2q37.1	UDP glucuronosyltransferase family 1 member A7	This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5 exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has moderate glucuronidase activity with phenols. [provided by RefSeq, Jul 2008]
UGT2A1	chr4	69588417	69653249	-	ENSG00000173610.12	protein_coding	UDPGT2A1	4q13.3	UDP glucuronosyltransferase family 2 member A1 complex locus	The protein encoded by this gene belongs to the UDP-glycosyltransferase family, members of which catalyze biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This enzyme is expressed in the olfactory neuroepithelium, which lines the posterior nasal cavity and is exposed to a wide range of odorants and airborne toxic compounds. Hence, this protein has been suggested to be involved in clearing lipophilic odorant molecules from the sensory epithelium. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. This gene shares exon structure with the UDP glucuronosyltransferase 2A2 family member, which encodes N-terminally distinct isoforms. [provided by RefSeq, Jul 2014]
UGT2B11	chr4	69199951	69214731	-	ENSG00000213759.9	protein_coding	-	4q13.2	UDP glucuronosyltransferase family 2 member B11	-
UGT2B15	chr4	68646630	68670628	-	ENSG00000196620.9	protein_coding	HLUG4|UDPGT 2B8|UDPGT2B15|UDPGTH3|UGT2B8	4q13.2	UDP glucuronosyltransferase family 2 member B15	This gene encodes a glycosyltransferase that is invovled in the metabolism and elimination of toxic compounts, both endogenous and of xenobiotic origin. This gene plays a role in the regulation of estrogens and androgens. This locus is present in a cluster of similar genes and pseudogenes on chromosome 4. [provided by RefSeq, Aug 2016]
UGT2B17	chr4	68537184	68568527	-	ENSG00000197888.2	protein_coding	BMND12|UDPGT2B17	4q13.2	UDP glucuronosyltransferase family 2 member B17	This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Copy number variation in this gene is associated with susceptibility to osteoporosis.[provided by RefSeq, Apr 2010]
UGT2B29P	chr4	68509441	68517647	-	ENSG00000250566.1	unprocessed_pseudogene	-	4q13.2	UDP glucuronosyltransferase family 2 member B29, pseudogene	-
UGT2B4	chr4	69480165	69526014	-	ENSG00000156096.13	protein_coding	HLUG25|UDPGT2B4|UDPGTH1|UDPGTh-1|UGT2B11	4q13.3	UDP glucuronosyltransferase family 2 member B4	Restricted expression toward liver (RPKM 259.3)
UGT2B7	chr4	69051363	69112987	+	ENSG00000171234.13	protein_coding	UDPGT 2B7|UDPGT 2B9|UDPGT2B7|UDPGTH2|UDPGTh-2|UGT2B9	4q13.2	UDP glucuronosyltransferase family 2 member B7	The protein encoded by this gene belongs to the UDP-glycosyltransferase (UGT) family. UGTs serve a major role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This protein is localized in the microsome membrane, and has unique specificity for 3,4-catechol estrogens and estriol, suggesting that it may play an important role in regulating the level and activity of these potent estrogen metabolites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]
UGT3A1	chr5	35951010	36001028	-	ENSG00000145626.11	protein_coding	-	5p13.2	UDP glycosyltransferase family 3 member A1	Biased expression in kidney (RPKM 14.9), liver (RPKM 11.3) and 3 other tissues
UGT3A2	chr5	36035017	36071358	-	ENSG00000168671.9	protein_coding	-	5p13.2	UDP glycosyltransferase family 3 member A2	-
UGT8	chr4	114598455	114678224	+	ENSG00000174607.10	protein_coding	CGT|UGT4	4q26	UDP glycosyltransferase 8	The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]
UHRF1	chr19	4903080	4962154	+	ENSG00000276043.4	protein_coding	ICBP90|Np95|RNF106|TDRD22|hNP95|hUHRF1|huNp95	19p13.3	ubiquitin like with PHD and ring finger domains 1	This gene encodes a member of a subfamily of RING-finger type E3 ubiquitin ligases. The protein binds to specific DNA sequences, and recruits a histone deacetylase to regulate gene expression. Its expression peaks at late G1 phase and continues during G2 and M phases of the cell cycle. It plays a major role in the G1/S transition by regulating topoisomerase IIalpha and retinoblastoma gene expression, and functions in the p53-dependent DNA damage checkpoint. It is regarded as a hub protein for the integration of epigenetic information. This gene is up-regulated in various cancers, and it is therefore considered to be a therapeutic target. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene exists on chromosome 12. [provided by RefSeq, Feb 2014]
UHRF1BP1	chr6	34792015	34883138	+	ENSG00000065060.16	protein_coding	C6orf107|ICBP90|dJ349A12.1	6p21.31	UHRF1 binding protein 1	Broad expression in testis (RPKM 8.7), bone marrow (RPKM 5.2) and 25 other tissues
UHRF2	chr9	6413151	6507054	+	ENSG00000147854.16	protein_coding	NIRF|RNF107|TDRD23|URF2	9p24.1	ubiquitin like with PHD and ring finger domains 2	This gene encodes a nuclear protein which is involved in cell-cycle regulation. The encoded protein is a ubiquitin-ligase capable of ubiquinating PCNP (PEST-containing nuclear protein), and together they may play a role in tumorigenesis. The encoded protein contains an NIRF_N domain, a PHD finger, a set- and ring-associated (SRA) domain, and a RING finger domain and several of these domains have been shown to be essential for the regulation of cell proliferation. This protein may also have a role in intranuclear degradation of polyglutamine aggregates. Alternative splicing results in multiple transcript variants some of which are non-protein coding. [provided by RefSeq, Feb 2012]
UIMC1	chr5	176905005	177022633	-	ENSG00000087206.16	protein_coding	RAP80|X2HRIP110	5q35.2	ubiquitin interaction motif containing 1	This gene encodes a nuclear protein that interacts with Brca1 (breast cancer 1) in a complex to recognize and repair DNA lesions. This protein binds ubiquitinated lysine 63 of histone H2A and H2AX. This protein may also function as a repressor of transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
ULBP2	chr6	149942000	149949235	+	ENSG00000131015.4	protein_coding	ALCAN-alpha|N2DL2|NKG2DL2|RAET1H|RAET1L	6q25.1	UL16 binding protein 2	This gene encodes a major histocompatibility complex (MHC) class I-related molecule that binds to the NKG2D receptor on natural killer (NK) cells to trigger release of multiple cytokines and chemokines that in turn contribute to the recruitment and activation of NK cells. The encoded protein undergoes further processing to generate the mature protein that is either anchored to membrane via a glycosylphosphatidylinositol moiety, or secreted. Many malignant cells secrete the encoded protein to evade immunosurveillance by NK cells. This gene is located in a cluster of multiple MHC class I-related genes on chromosome 6. [provided by RefSeq, Jul 2015]
ULK1	chr12	131894651	131923167	+	ENSG00000177169.9	protein_coding	ATG1|ATG1A|UNC51|Unc51.1|hATG1	12q24.33	unc-51 like autophagy activating kinase 1	Ubiquitous expression in bone marrow (RPKM 14.9), endometrium (RPKM 11.7) and 25 other tissues
ULK3	chr15	74836116	74843346	-	ENSG00000140474.12	protein_coding	-	15q24.1	unc-51 like kinase 3	-
ULK4	chr3	41246599	41962430	-	ENSG00000168038.10	protein_coding	FAM7C1|REC01035	3p22.1	unc-51 like kinase 4	This gene encodes a member of the unc-51-like serine/threonine kinase (STK) family. Members of this protein family play a role in neuronal growth and endocytosis. The encoded protein is likely involved in neurite branching, neurite elongation and neuronal migration. Genome-wide association studies (GWAS) indicate an association of variations in this gene with blood pressure and hypertension. Sequence variations in this gene may also be be associated with psychiatric disorders, including schizophrenia and bipolar disorder. Pseudogenes associated with this gene have been identified and are located on chromosome 15. [provided by RefSeq, Jul 2016]
ULK4P2	chr15	30572738	30600647	+	ENSG00000260128.6	transcribed_unprocessed_pseudogene	D-X|FAM7A2	15q13.2	ULK4 pseudogene 2	Broad expression in testis (RPKM 7.0), fat (RPKM 3.4) and 17 other tissues
UMAD1	chr7	7640711	7968020	+	ENSG00000219545.11	protein_coding	RPA3-AS1|RPA3OS	7p21.3	UBAP1-MVB12-associated (UMA) domain containing 1	Ubiquitous expression in thyroid (RPKM 13.8), adrenal (RPKM 10.3) and 25 other tissues
UMOD	chr16	20333052	20356301	-	ENSG00000169344.15	protein_coding	ADMCKD2|ADTKD1|FJHN|HNFJ|HNFJ1|MCKD2|THGP|THP	16p12.3	uromodulin	The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]
UMODL1	chr21	42062959	42143453	+	ENSG00000177398.18	protein_coding	-	21q22.3	uromodulin like 1	-
UMODL1-AS1	chr21	42102134	42108534	-	ENSG00000184385.2	sense_overlapping	C21orf128	21q22.3	UMODL1 antisense RNA 1	Low expression observed in reference dataset
UMPS	chr3	124730366	124749273	+	ENSG00000114491.13	protein_coding	OPRT	3q21.2	uridine monophosphate synthetase	This gene encodes a uridine 5-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
UNC119	chr17	28546707	28552668	-	ENSG00000109103.11	protein_coding	HRG4|IMD13|POC7|POC7A	17q11.2	unc-119 lipid binding chaperone	This gene is specifically expressed in the photoreceptors in the retina. The encoded product shares strong homology with the C. elegans unc119 protein and it can functionally complement the C. elegans unc119 mutation. It has been localized to the photoreceptor synapses in the outer plexiform layer of the retina, and suggested to play a role in the mechanism of photoreceptor neurotransmitter release through the synaptic vesicle cycle. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
UNC119B	chr12	120710435	120723640	+	ENSG00000175970.10	protein_coding	POC7B	12q24.31	unc-119 lipid binding chaperone B	Ubiquitous expression in thyroid (RPKM 22.0), ovary (RPKM 19.5) and 24 other tissues
UNC13D	chr17	75827225	75844717	-	ENSG00000092929.11	protein_coding	FHL3|HLH3|HPLH3|Munc13-4	17q25.1	unc-13 homolog D	This gene encodes a protein that is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder. [provided by RefSeq, Jul 2008]
UNC45A	chr15	90930180	90954093	+	ENSG00000140553.17	protein_coding	GC-UNC45|GCUNC-45|GCUNC45|IRO039700|OOHE|SMAP-1|SMAP1|UNC-45A	15q26.1	unc-45 myosin chaperone A	This gene encodes a regulatory component of the progesterone receptor/heat shock protein 90 chaperoning complex, which functions in the assembly and folding of the progesterone receptor. The encoded protein is thought to be essential for normal cell proliferation, and for the accumulation of myosin during development of muscle cells. [provided by RefSeq, Sep 2018]
UNC50	chr2	98608579	98618515	+	ENSG00000115446.11	protein_coding	GMH1|HSD23|PDLs22|UNCL|URP	2q11.2	unc-50 inner nuclear membrane RNA binding protein	Ubiquitous expression in thyroid (RPKM 28.7), testis (RPKM 24.9) and 25 other tissues
UNC5A	chr5	176810477	176880895	+	ENSG00000113763.10	protein_coding	UNC5H1	5q35.2	unc-5 netrin receptor A	UNC5A belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[supplied by OMIM, Apr 2004]
UNC5B	chr10	71212570	71302864	+	ENSG00000107731.12	protein_coding	UNC5H2|p53RDL1	10q22.1	unc-5 netrin receptor B	This gene encodes a member of the netrin family of receptors. This particular protein mediates the repulsive effect of netrin-1 and is a vascular netrin receptor. This encoded protein is also in a group of proteins called dependence receptors (DpRs) which are involved in pro- and anti-apoptotic processes. Many DpRs are involved in embryogenesis and in cancer progression. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
UNC5CL	chr6	41026911	41039217	-	ENSG00000124602.9	protein_coding	MUXA|ZUD	6p21.1	unc-5 family C-terminal like	Biased expression in duodenum (RPKM 20.3), small intestine (RPKM 16.3) and 6 other tissues
UNC5D	chr8	35235457	35796550	+	ENSG00000156687.10	protein_coding	PRO34692|Unc5h4	8p12	unc-5 netrin receptor D	Predicted to enable netrin receptor activity. Involved in cell-cell adhesion via plasma-membrane adhesion molecules. Predicted to be located in cell surface and plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
UNC79	chr14	93333219	93707876	+	ENSG00000133958.13	protein_coding	KIAA1409	14q32.12	unc-79 homolog, NALCN channel complex subunit	The NALCN channel is responsible for Na(+) leak currents. The protein encoded by this gene, along with UNC80, is an accessory subunit of the NALCN channel that contributes to the Ca(2+) sensitivity of the channel. [provided by RefSeq, Sep 2016]
UNC80	chr2	209771993	209999300	+	ENSG00000144406.18	protein_coding	C2orf21|UNC-80	2q34	unc-80 homolog, NALCN channel complex subunit	The protein encoded by this gene is a component of a voltage-independent leak ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016]
UNC93B1	chr11	67991104	68004982	-	ENSG00000110057.7	protein_coding	IIAE1|UNC93|UNC93B|Unc-93B1	11q13.2	unc-93 homolog B1, TLR signaling regulator	This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014]
UNC93B3	chr3	75619506	75623849	-	ENSG00000172971.7	unprocessed_pseudogene	UNC93B3P	3p12.3	unc-93 homolog B3 (pseudogene)	-
UNC93B5	chr11	67711702	67716005	-	ENSG00000184795.9	unprocessed_pseudogene	-	11q13.2	unc-93 homolog B5 (pseudogene)	-
UNCX	chr7	1232907	1237318	+	ENSG00000164853.8	protein_coding	UNCX4.1	7p22.3	UNC homeobox	This gene encodes a homeobox transcription factor that is involved in somitogenesis and neurogenesis and is required for the maintenance and differentiation of specific elements of the axial skeleton. This gene also plays a role in controlling the development of connections of hypothalamic neurons to pituitary elements, allowing central neurons to reach the peripheral blood circulation and deliver hormones that control peripheral functions. The expression of this gene is associated with an increased frequency of acute myeloid leukemia. [provided by RefSeq, Jul 2017]
UNG	chr12	109097574	109110992	+	ENSG00000076248.10	protein_coding	DGU|HIGM4|HIGM5|UDG|UNG1|UNG15|UNG2	12q24.11	uracil DNA glycosylase	This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010]
UNK	chr17	75784771	75825799	+	ENSG00000132478.9	protein_coding	UNKEMPT|ZC3H5|ZC3HDC5	17q25.1	unk zinc finger	Ubiquitous expression in ovary (RPKM 4.4), spleen (RPKM 4.1) and 25 other tissues
UNKL	chr16	1363205	1414751	-	ENSG00000059145.18	protein_coding	C16orf28|ZC3H5L|ZC3HDC5L	16p13.3	unk like zinc finger	This gene encodes a RING finger protein that may function in Rac signaling. It can bind to Brg/Brm-associated factor 60b and can promote its ubiquitination. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jun 2013]
UNQ6494	chr9	89639814	89719759	+	ENSG00000237372.2	lincRNA	-	-	-	-
UPB1	chr22	24494107	24528390	+	ENSG00000100024.14	protein_coding	BUP1	22q11.23	beta-ureidopropionase 1	This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity. [provided by RefSeq, Jul 2008]
UPF1	chr19	18831938	18868236	+	ENSG00000005007.12	protein_coding	HUPF1|NORF1|RENT1|UTF|pNORF1|smg-2	19p13.11	UPF1 RNA helicase and ATPase	This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located only in the cytoplasm. When translation ends, it interacts with the protein that is a functional homolog of yeast Upf2p to trigger mRNA decapping. Use of multiple polyadenylation sites has been noted for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
UPF2	chr10	11920022	12043170	-	ENSG00000151461.19	protein_coding	HUPF2|RENT2|smg-3	10p14	UPF2 regulator of nonsense mediated mRNA decay	This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein is located in the perinuclear area. It interacts with translation release factors and the proteins that are functional homologs of yeast Upf1p and Upf3p. Two splice variants have been found for this gene; both variants encode the same protein. [provided by RefSeq, Jul 2008]
UPF3A	chr13	114281584	114305817	+	ENSG00000169062.14	protein_coding	HUPF3A|RENT3A|UPF3	13q34	UPF3A regulator of nonsense mediated mRNA decay	This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Several splice variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
UPF3AP3	chr9	99998301	99999069	-	ENSG00000234709.2	transcribed_processed_pseudogene	-	9q31.1	UPF3A pseudogene 3	-
UPK1A	chr19	35666516	35678483	+	ENSG00000105668.7	protein_coding	TSPAN21|UP1A|UPIA|UPKA	19q13.12	uroplakin 1A	The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can complex with other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions. The protein may also play a role in tumor suppression. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
UPK1A-AS1	chr19	35667948	35673291	-	ENSG00000226510.1	antisense	-	19q13.12	UPK1A antisense RNA 1	-
UPK2	chr11	118925164	118958559	+	ENSG00000110375.2	protein_coding	UP2|UPII	11q23.3	uroplakin 2	This gene encodes one of the proteins of the highly conserved urothelium-specific integral membrane proteins of the asymmetric unit membrane which forms urothelium apical plaques in mammals. The asymmetric unit membrane is believed to strengthen the urothelium by preventing cell rupture during bladder distention. The encoded protein is expressed in the peripheral blood of bladder cancer patients with transitional cell carcinomas.[provided by RefSeq, Sep 2009]
UPK3A	chr22	45284982	45295874	+	ENSG00000100373.9	protein_coding	UP3A|UPIII|UPIIIA|UPK3	22q13.31	uroplakin 3A	This gene encodes a member of the uroplakin family, a group of transmembrane proteins that form complexes on the apical surface of the bladder epithelium. Mutations in this gene may be associated with renal adysplasia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]
UPK3BL1	chr7	 102637025	102642791	-	ENSG00000267368	protein-coding	UPK3BL|UPLP	7q22.1	uroplakin 3B like 1	Ubiquitous expression in esophagus (RPKM 86.5), thyroid (RPKM 43.5) and 25 other tissues
UPK3BP1	chr7	77004662	77005774	+	ENSG00000242435.1	transcribed_unprocessed_pseudogene	-	7q11.23	uroplakin 3B pseudogene 1	-
UPP1	chr7	48088628	48108733	+	ENSG00000183696.13	protein_coding	UDRPASE|UP|UPASE|UPP	7p12.3	uridine phosphorylase 1	This gene encodes a uridine phosphorylase, an enzyme that catalyzes the reversible phosphorylation of uridine (or 2- deoxyuridine) to uracil and ribose-1-phosphate (or deoxyribose-1-phosphate). The encoded enzyme functions in the degradation and salvage of pyrimidine ribonucleosides. [provided by RefSeq, Oct 2016]
UQCC1	chr20	35302566	35412141	-	ENSG00000101019.21	protein_coding	BFZB|C20orf44|CBP3|UQCC	20q11.22	ubiquinol-cytochrome c reductase complex assembly factor 1	This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
UQCC2	chr6	33694293	33711727	-	ENSG00000137288.9	protein_coding	C6orf125|C6orf126|Cbp6|M19|MC3DN7|MNF1|bA6B20.2	6p21.31	ubiquinol-cytochrome c reductase complex assembly factor 2	This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of insulin secretion, mitochondrial ATP production, and myogenesis through modulation of mitochondrial respiratory chain activity. [provided by RefSeq, Oct 2012]
UQCC3	chr11	62670273	62673687	+	ENSG00000204922.4	protein_coding	C11orf83|CCDS41658.1|MC3DN9|UNQ655	11q12.3	ubiquinol-cytochrome c reductase complex assembly factor 3	Complex III is a mitochondrial inner membrane protein complex that transfers electrons from ubiquinol to cytochrome c. This gene encodes a protein that functions in complex III assembly. Mutations in this gene result in Mitochondrial complex III deficiency, nuclear type 9. [provided by RefSeq, Dec 2014]
UQCR10	chr22	29767369	29770413	+	ENSG00000184076.13	protein_coding	HSPC051|HSPC119|HSPC151|QCR9|UCCR7.2|UCRC	22q12.2	ubiquinol-cytochrome c reductase, complex III subunit X	UCRC is a subunit of mitochondrial complex III (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the middle segment of the respiratory chain of the inner mitochondrial membrane (Schagger et al., 1995 [PubMed 8592474]).[supplied by OMIM, Mar 2008]
UQCRBP1	chrX	56737242	56737577	-	ENSG00000237748.1	processed_pseudogene	-	Xp11.21	ubiquinol-cytochrome c reductase binding protein pseudogene 1	-
UQCRC1	chr3	48599002	48610976	-	ENSG00000010256.10	protein_coding	D3S3191|PKNPY|QCR1|UQCR1	3p21.31	ubiquinol-cytochrome c reductase core protein 1	Ubiquitous expression in heart (RPKM 170.6), kidney (RPKM 96.0) and 25 other tissues
UQCRFS1	chr19	29205321	29213541	-	ENSG00000169021.5	protein_coding	MC3DN10|RIP1|RIS1|RISP|UQCR5	19q12	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	Ubiquitous expression in heart (RPKM 101.2), kidney (RPKM 70.7) and 25 other tissues
UQCRFS1P2	chr7	138701607	138703062	+	ENSG00000223721.3	processed_pseudogene	-	7q34	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 2	-
UQCRHL	chr1	15807169	15809348	-	ENSG00000233954.6	protein_coding	hCG25371	1p36.21	ubiquinol-cytochrome c reductase hinge protein like	This gene has characteristics of a pseudogene derived from the UQCRH gene. However, there is still an open reading frame that could produce a protein of the same or nearly the same size as that of the UQCRH gene, so this gene is being called protein-coding for now. [provided by RefSeq, Jul 2008]
UQCRHP1	chr6	31611083	31611356	-	ENSG00000230622.1	processed_pseudogene	Em:AF129756.18|UQCRHP5	6p21.33	ubiquinol-cytochrome c reductase hinge protein pseudogene 1	-
UQCRQ	chr5	132866560	132868031	+	ENSG00000164405.10	protein_coding	MC3DN4|QCR8|QP-C|QPC|UQCR7	5q31.1	ubiquinol-cytochrome c reductase complex III subunit VII	This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2008]
URAD	chr13	27977714	27988654	-	ENSG00000183463.5	protein_coding	PRHOXNB	13q12.2	ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase	Predicted to enable carboxy-lyase activity. Predicted to be involved in purine-containing compound catabolic process. Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Apr 2022]
URAHP	chr16	90039761	90047773	-	ENSG00000222019.7	transcribed_unprocessed_pseudogene	URAH	16q24.3	urate (hydroxyiso-) hydrolase, pseudogene	Ubiquitous expression in ovary (RPKM 5.1), testis (RPKM 4.4) and 25 other tissues
URB1	chr21	32311018	32393026	-	ENSG00000142207.6	protein_coding	C21orf108|NPA1	21q22.11	URB1 ribosome biogenesis homolog	Ubiquitous expression in testis (RPKM 5.5), endometrium (RPKM 5.1) and 25 other tissues
URB1-AS1	chr21	32393130	32393960	+	ENSG00000256073.3	lincRNA	C21orf119|PRED84	21q22.11	URB1 antisense RNA 1 (head to head)	-
URGCP	chr7	43875894	43926411	-	ENSG00000106608.16	protein_coding	URG4	7p13	upregulator of cell proliferation	URG4 is upregulated in the presence of hepatitis B virus (HBV)-encoded X antigen (HBxAg) and may contribute to the development of hepatocellular carcinoma by promoting hepatocellular growth and survival (Tufan et al., 2002 [PubMed 12082552]).[supplied by OMIM, Mar 2008]
URI1	chr19	29923644	30016608	+	ENSG00000105176.17	protein_coding	C19orf2|NNX3|PPP1R19|RMP|URI	19q12	URI1 prefoldin like chaperone	This gene encodes member of the prefoldin family of molecular chaperones. The encoded protein functions as a scaffolding protein and plays roles in ubiquitination and transcription, in part though interactions with the RNA polymerase II subunit RPB5. This gene may play a role in multiple malignancies including ovarian cancer and hepatocellular carcinoma. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 22. [provided by RefSeq, Nov 2011]
URM1	chr9	128371319	128392016	+	ENSG00000167118.10	protein_coding	C9orf74	9q34.11	ubiquitin related modifier 1	Ubiquitous expression in spleen (RPKM 8.1), lymph node (RPKM 7.6) and 25 other tissues
UROC1	chr3	126481281	126517773	-	ENSG00000159650.8	protein_coding	HMFN0320|UROCD	3q21.3	urocanate hydratase 1	This gene encodes an enzyme involved in the second step of histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. Deficiency of this enzyme results in urocanic aciduria, and is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2021]
UROD	chr1	45012147	45015575	+	ENSG00000126088.13	protein_coding	PCT|UPD	1p34.1	uroporphyrinogen decarboxylase	This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010]
UROS	chr10	125784980	125823248	-	ENSG00000188690.12	protein_coding	UROIIIS	10q26.2	uroporphyrinogen III synthase	The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunthers disease). [provided by RefSeq, Jul 2008]
USB1	chr16	57999546	58021618	+	ENSG00000103005.11	protein_coding	C16orf57|HVSL1|Mpn1|PN|hUsb1	16q21	U6 snRNA biogenesis phosphodiesterase 1	This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
USE1	chr19	17215346	17219829	+	ENSG00000053501.12	protein_coding	D12|MDS032|P31|SLT1	19p13.11	unconventional SNARE in the ER 1	Ubiquitous expression in brain (RPKM 7.1), fat (RPKM 6.8) and 25 other tissues
USF1	chr1	161039251	161045977	-	ENSG00000158773.14	protein_coding	FCHL|FCHL1|HYPLIP1|MLTF|MLTFI|UEF|bHLHb11	1q23.3	upstream transcription factor 1	This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs. This gene has been linked to familial combined hyperlipidemia (FCHL). Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been defined on chromosome 21. [provided by RefSeq, Feb 2013]
USF1P1	chr21	33334571	33335096	+	ENSG00000226501.2	processed_pseudogene	USF1P	21q22.11	upstream transcription factor 1 pseudogene 1	-
USF2	chr19	35268978	35279821	+	ENSG00000105698.15	protein_coding	FIP|bHLHb12	19q13.12	upstream transcription factor 2, c-fos interacting	This gene encodes a member of the basic helix-loop-helix leucine zipper family of transcription factors. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs and is involved in regulating multiple cellular processes. [provided by RefSeq, Mar 2016]
USF3	chr3	113648385	113696646	-	ENSG00000176542.9	protein_coding	KIAA2018	3q13.2	upstream transcription factor family member 3	This gene encodes a large protein that contains a helix-loop-helix domain and a polyglutamine region. A deletion in the polyglutamine region was associated with risk for thyroid carcinoma. [provided by RefSeq, May 2017]
USH1C	chr11	17493895	17544416	-	ENSG00000006611.15	protein_coding	AIE-75|DFNB18|DFNB18A|NY-CO-37|NY-CO-38|PDZ-45|PDZ-73|PDZ-73/NY-CO-38|PDZ73|PDZD7C|ush1cpst	11p15.1	USH1 protein network component harmonin	This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
USH1G	chr17	74916084	74923256	-	ENSG00000182040.8	protein_coding	ANKS4A|SANS	17q25.1	USH1 protein network component sans	This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
USH2A	chr1	215622894	216423396	-	ENSG00000042781.12	protein_coding	RP39|US2|USH2|dJ1111A8.1	1q41	usherin	This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
USO1	chr4	75724593	75814286	+	ENSG00000138768.14	protein_coding	P115|TAP|VDP	4q21.1	USO1 vesicle transport factor	The protein encoded by this gene is a peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
USP1	chr1	62436297	62451804	+	ENSG00000162607.12	protein_coding	UBP	1p31.3	ubiquitin specific peptidase 1	This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
USP10	chr16	84699978	84779922	+	ENSG00000103194.15	protein_coding	UBPO	16q24.1	ubiquitin specific peptidase 10	Ubiquitin is a highly conserved protein that is covalently linked to other proteins to regulate their function and degradation. This gene encodes a member of the ubiquitin-specific protease family of cysteine proteases. The enzyme specifically cleaves ubiquitin from ubiquitin-conjugated protein substrates. The protein is found in the nucleus and cytoplasm. It functions as a co-factor of the DNA-bound androgen receptor complex, and is inhibited by a protein in the Ras-GTPase pathway. The human genome contains several pseudogenes similar to this gene. Several transcript variants, some protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jan 2013]
USP12	chr13	27066142	27171896	-	ENSG00000152484.13	protein_coding	UBH1|USP12L1	13q12.13	ubiquitin specific peptidase 12	Ubiquitous expression in brain (RPKM 15.7), lymph node (RPKM 15.4) and 25 other tissues
USP14	chr18	158383	214629	+	ENSG00000101557.14	protein_coding	TGT	18p11.32	ubiquitin specific peptidase 14	This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. Mice with a mutation that results in reduced expression of the ortholog of this protein are retarded for growth, develop severe tremors by 2 to 3 weeks of age followed by hindlimb paralysis and death by 6 to 10 weeks of age. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
USP15	chr12	62260338	62417431	+	ENSG00000135655.15	protein_coding	UNPH-2|UNPH4	12q14.1	ubiquitin specific peptidase 15	This gene encodes a member of the ubiquitin specific protease (USP) family of deubiquitinating enzymes. USP enzymes play critical roles in ubiquitin-dependent processes through polyubiquitin chain disassembly and hydrolysis of ubiquitin-substrate bonds. The encoded protein associates with the COP9 signalosome, and also plays a role in transforming growth factor beta signalling through deubiquitination of receptor-activated SMAD transcription factors. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 2. [provided by RefSeq, Nov 2011]
USP16	chr21	29024629	29054488	+	ENSG00000156256.14	protein_coding	UBP-M|UBPM	21q21.3	ubiquitin specific peptidase 16	This gene encodes a deubiquitinating enzyme that is phosphorylated at the onset of mitosis and then dephosphorylated at the metaphase/anaphase transition. It can deubiquitinate H2A, one of two major ubiquitinated proteins of chromatin, in vitro and a mutant form of the protein was shown to block cell division. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
USP17L2	chr8	12137168	12139077	-	ENSG00000223443.2	protein_coding	DUB-3|DUB3|USP17	8p23.1	ubiquitin specific peptidase 17 like family member 2	DUB3 is a member of the ubiquitin processing protease (UBP) subfamily of deubiquitinating enzymes. See USP1 (MIM 603478) for background information.[supplied by OMIM, Mar 2008]
USP17L7	chr8	12132417	12134438	-	ENSG00000226430.6	protein_coding	-	8p23.1	ubiquitin specific peptidase 17 like family member 7	-
USP19	chr3	49108046	49120938	-	ENSG00000172046.18	protein_coding	ZMYND9	3p21.31	ubiquitin specific peptidase 19	Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. This protein is a ubiquitin protein ligase and plays a role in muscle wasting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]
USP2	chr11	119355215	119381726	-	ENSG00000036672.15	protein_coding	UBP41|USP9	11q23.3	ubiquitin specific peptidase 2	This gene encodes a member of the family of de-ubiquitinating enzymes, which belongs to the peptidase C19 superfamily. The encoded protein is a ubiquitin-specific protease which is required for TNF-alpha (tumor necrosis factor alpha) -induced NF-kB (nuclear factor kB) signaling. This protein deubiquitinates polyubiquitinated target proteins such as fatty acid synthase, murine double minute 2 (MDM2), MDM4/MDMX and cyclin D1. MDM2 and MDM4 are negative regulators of the p53 tumor suppressor and cyclin D1 is required for cell cycle G1/S transition. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
USP20	chr9	129834698	129881838	+	ENSG00000136878.12	protein_coding	LSFR3A|VDU2|hVDU2	9q34.11	ubiquitin specific peptidase 20	This gene encodes a ubiquitin specific processing protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin ligase complex. In addition to being ubiquitinated by the VHL-E3 ligase complex, this enzyme deubiquitinates hypoxia-inducible factor (HIF)-1 alpha and thereby causes increased expression of HIF-1alpha targeted genes which play a role in angiogenesis, glucose metabolism, cell proliferation and metastasis. The enzyme encoded by this gene also regulates G-protein coupled receptor signaling by mediating the deubiquitination of beta-2 adrenergic receptor (ADRB2). This enzyme is a ubiquitously expressed thiolester hydrolase. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jan 2013]
USP21	chr1	161159450	161165723	+	ENSG00000143258.15	protein_coding	USP16|USP23	1q23.3	ubiquitin specific peptidase 21	This gene encodes a member of the C19 peptidase family, also known as family 2 of ubiquitin carboxy-terminal hydrolases. The encoded protein cleaves ubiquitin from ubiquitinated proteins for recycling in intracellular protein degradation. The encoded protein is also able to release NEDD8, a ubiquitin-like protein, from NEDD8-conjugated proteins. This gene has been referred to as USP16 and USP23 but is now known as USP21. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
USP22	chr17	20999593	21043760	-	ENSG00000124422.11	protein_coding	USP3L	17p11.2	ubiquitin specific peptidase 22	Ubiquitous expression in brain (RPKM 54.0), ovary (RPKM 38.9) and 25 other tissues
USP24	chr1	55066359	55215113	-	ENSG00000162402.13	protein_coding	-	1p32.3	ubiquitin specific peptidase 24	Ubiquitous expression in bone marrow (RPKM 9.9), lymph node (RPKM 9.7) and 25 other tissues
USP25	chr21	15730025	15880069	+	ENSG00000155313.15	protein_coding	USP21	21q21.1	ubiquitin specific peptidase 25	Ubiquitin (MIM 191339) is a highly conserved 76-amino acid protein involved in regulation of intracellular protein breakdown, cell cycle regulation, and stress response. Ubiquitin is released from degraded proteins by disassembly of the polyubiquitin chains, which is mediated by ubiquitin-specific proteases (USPs), such as USP25 (Valero et al., 1999 [PubMed 10644437]).[supplied by OMIM, Mar 2008]
USP27X-DT	chrX	 49876724	49879356	-	ENSG00000234390	ncRNA	USP27X-AS1	Xp11.23	USP27X divergent transcript	-
USP28	chr11	113797874	113875570	-	ENSG00000048028.11	protein_coding	-	11q23.2	ubiquitin specific peptidase 28	Ubiquitous expression in heart (RPKM 11.8), lymph node (RPKM 4.2) and 24 other tissues
USP3	chr15	63504511	63594640	+	ENSG00000140455.16	protein_coding	SIH003|UBP	15q22.31	ubiquitin specific peptidase 3	Ubiquitous expression in bone marrow (RPKM 9.8), spleen (RPKM 5.3) and 25 other tissues
USP3-AS1	chr15	63544247	63601589	-	ENSG00000259248.5	antisense	-	15q22.31	USP3 antisense RNA 1	-
USP30	chr12	109023089	109088026	+	ENSG00000135093.12	protein_coding	-	12q24.11	ubiquitin specific peptidase 30	Ubiquitous expression in testis (RPKM 5.7), ovary (RPKM 5.5) and 25 other tissues
USP30-AS1	chr12	109052350	109053952	-	ENSG00000256262.1	antisense	-	12q24.11	USP30 antisense RNA 1	-
USP31	chr16	23061406	23149270	-	ENSG00000103404.14	protein_coding	-	16p12.2	ubiquitin specific peptidase 31	-
USP32	chr17	60179094	60422470	-	ENSG00000170832.12	protein_coding	NY-REN-60|USP10	17q23.1-q23.2	ubiquitin specific peptidase 32	Broad expression in testis (RPKM 36.8), brain (RPKM 14.5) and 23 other tissues
USP32P1	chr17	16786489	16804455	+	ENSG00000188933.14	transcribed_unprocessed_pseudogene	-	17p11.2	ubiquitin specific peptidase 32 pseudogene 1	-
USP32P2	chr17	18511262	18525930	-	ENSG00000233327.10	transcribed_unprocessed_pseudogene	TL132	17p11.2	ubiquitin specific peptidase 32 pseudogene 2	Broad expression in testis (RPKM 12.1), bone marrow (RPKM 6.2) and 22 other tissues
USP32P3	chr17	20415547	20431008	+	ENSG00000189423.11	transcribed_unprocessed_pseudogene	-	17p11.2	ubiquitin specific peptidase 32 pseudogene 3	-
USP33	chr1	77695987	77759852	-	ENSG00000077254.14	protein_coding	VDU1	1p31.1	ubiquitin specific peptidase 33	This gene encodes a deubiquinating enzyme important in a variety of processes, including Slit-dependent cell migration and beta-2 adrenergic receptor signaling. The protein is negatively regulated through ubiquitination by von Hippel-Lindau tumor protein (VHL). Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]
USP34	chr2	61187463	61470769	-	ENSG00000115464.14	protein_coding	-	2p15	ubiquitin specific peptidase 34	-
USP35	chr11	78188812	78214711	+	ENSG00000118369.12	protein_coding	-	11q14.1	ubiquitin specific peptidase 35	Ubiquitous expression in adrenal (RPKM 3.3), brain (RPKM 2.1) and 25 other tissues
USP36	chr17	78787381	78841441	-	ENSG00000055483.19	protein_coding	DUB1	17q25.3	ubiquitin specific peptidase 36	This gene encodes a member of the peptidase C19 or ubiquitin-specific protease family of cysteine proteases. Members of this family remove ubiquitin molecules from polyubiquitinated proteins. The encoded protein may deubiquitinate and stabilize the transcription factor c-Myc, also known as MYC, an important oncoprotein known to be upregulated in most human cancers. The encoded protease may also regulate the activation of autophagy. This gene exhibits elevated expression in some breast and lung cancers. [provided by RefSeq, Mar 2016]
USP37	chr2	218450251	218568361	-	ENSG00000135913.10	protein_coding	-	2q35	ubiquitin specific peptidase 37	-
USP38	chr4	143184917	143223830	+	ENSG00000170185.9	protein_coding	HP43.8KD	4q31.21	ubiquitin specific peptidase 38	Ubiquitous expression in bone marrow (RPKM 7.3), colon (RPKM 5.9) and 25 other tissues
USP39	chr2	85602856	85649282	+	ENSG00000168883.19	protein_coding	65K|CGI-21|HSPC332|SAD1|SNRNP65	2p11.2	ubiquitin specific peptidase 39	Ubiquitous expression in bone marrow (RPKM 14.6), placenta (RPKM 13.8) and 25 other tissues
USP4	chr3	49277831	49340712	-	ENSG00000114316.12	protein_coding	UNP|Unph	3p21.31	ubiquitin specific peptidase 4	The protein encoded by this gene is a protease that deubiquitinates target proteins such as ADORA2A and TRIM21. The encoded protein shuttles between the nucleus and cytoplasm and is involved in maintaining operational fidelity in the endoplasmic reticulum. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
USP40	chr2	233475520	233566782	-	ENSG00000085982.13	protein_coding	-	2q37.1	ubiquitin specific peptidase 40	Ubiquitous expression in testis (RPKM 7.5), thyroid (RPKM 6.8) and 25 other tissues
USP41	chr22	20350578	20390758	-	ENSG00000161133.16	protein_coding	-	22q11.21	ubiquitin specific peptidase 41	-
USP42	chr7	6104884	6161564	+	ENSG00000106346.11	protein_coding	-	7p22.1	ubiquitin specific peptidase 42	-
USP44	chr12	95516560	95551490	-	ENSG00000136014.11	protein_coding	-	12q22	ubiquitin specific peptidase 44	Biased expression in testis (RPKM 9.0), lung (RPKM 1.3) and 1 other tissue
USP45	chr6	99432379	99521728	-	ENSG00000123552.17	protein_coding	LCA19	6q16.2	ubiquitin specific peptidase 45	The protein encoded by this gene is a deubiquitylase that binds ERCC1, the catalytic subunit of the XPF-ERCC1 DNA repair endonuclease. This endonuclease is a critical regulator of DNA repair processes, and the deubiquitylase activity of the encoded protein is important for maintaining the DNA repair ability of XPF-ERCC1. [provided by RefSeq, Sep 2016]
USP46	chr4	52590972	52659335	-	ENSG00000109189.12	protein_coding	-	4q12	ubiquitin specific peptidase 46	Ubiquitous expression in brain (RPKM 11.8), heart (RPKM 7.4) and 23 other tissues
USP47	chr11	11841423	11959323	+	ENSG00000170242.17	protein_coding	TRFP	11p15.3	ubiquitin specific peptidase 47	Ubiquitous expression in brain (RPKM 11.7), heart (RPKM 10.2) and 25 other tissues
USP48	chr1	21678298	21783606	-	ENSG00000090686.15	protein_coding	RAP1GA1|USP31	1p36.12	ubiquitin specific peptidase 48	This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating enzymes, recognizing and hydrolyzing the peptide bond at the C-terminal glycine of ubiquitin. Enzymes in peptidase family C19 are involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
USP49	chr6	41789896	41895361	-	ENSG00000164663.14	protein_coding	-	6p21.1	ubiquitin specific peptidase 49	-
USP50	chr15	50500562	50546708	-	ENSG00000170236.14	protein_coding	-	15q21.2	ubiquitin specific peptidase 50	-
USP53	chr4	119212587	119295517	+	ENSG00000145390.11	protein_coding	-	4q26	ubiquitin specific peptidase 53	-
USP54	chr10	73497538	73625953	-	ENSG00000166348.18	protein_coding	C10orf29|bA137L10.3|bA137L10.4	10q22.2	ubiquitin specific peptidase 54	Broad expression in thyroid (RPKM 13.4), brain (RPKM 8.5) and 22 other tissues
USP6	chr17	5116438	5175034	+	ENSG00000129204.16	protein_coding	HRP1|TRE17|TRE2|TRESMCR|Tre-2|USP6-short	17p13.2	ubiquitin specific peptidase 6	Biased expression in testis (RPKM 9.4), ovary (RPKM 2.5) and 9 other tissues
USP6NL	chr10	11453946	11611754	-	ENSG00000148429.14	protein_coding	RNTRE|TRE2NL|USP6NL-IT1	10p14	USP6 N-terminal like	Broad expression in testis (RPKM 11.0), esophagus (RPKM 10.8) and 24 other tissues
USP7	chr16	8892094	8964514	-	ENSG00000187555.14	protein_coding	HAFOUS|HAUSP|TEF1	16p13.2	ubiquitin specific peptidase 7	The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016]
USP8	chr15	50424380	50514419	+	ENSG00000138592.13	protein_coding	HumORF8|PITA4|SPG59|UBPY	15q21.2	ubiquitin specific peptidase 8	This gene encodes a protein that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo sorting and membrane trafficking at the early endosome stage. This protein is required for the cell to enter the S phase of the cell cycle and also functions as a positive regulator in the Hedgehog signaling pathway in development. Pseudogenes of this gene are present on chromosomes 2 and 6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
USP8P1	chr6	31275572	31278754	+	ENSG00000214892.4	processed_pseudogene	D84394.7|USP8P	6p21.33	USP8 pseudogene 1	-
USPL1	chr13	30617693	30660770	+	ENSG00000132952.11	protein_coding	C13orf22|D13S106E|bA121O19.1	13q12.3	ubiquitin specific peptidase like 1	Enables SUMO binding activity and SUMO-specific isopeptidase activity. Involved in several processes, including Cajal body organization; protein desumoylation; and snRNA transcription. Located in Cajal body. [provided by Alliance of Genome Resources, Apr 2022]
UST	chr6	148747328	149076990	+	ENSG00000111962.7	protein_coding	2OST	6q25.1	uronyl 2-sulfotransferase	Uronyl 2-sulfotransferase transfers sulfate to the 2-position of uronyl residues, such as iduronyl residues in dermatan sulfate and glucuronyl residues in chondroitin sulfate (Kobayashi et al., 1999 [PubMed 10187838]).[supplied by OMIM, Mar 2008]
UTP11	chr1	38009258	38024824	+	ENSG00000183520.11	protein_coding	CGI-94|CGI94|UTP11L	1p34.3	UTP11 small subunit processome component	Ubiquitous expression in adrenal (RPKM 11.3), esophagus (RPKM 10.1) and 25 other tissues
UTP15	chr5	73565443	73583377	+	ENSG00000164338.9	protein_coding	NET21	5q13.2	UTP15 small subunit processome component	Ubiquitous expression in bone marrow (RPKM 3.2), thyroid (RPKM 2.7) and 25 other tissues
UTP18	chr17	51260528	51297936	+	ENSG00000011260.13	protein_coding	CGI-48|WDR50	17q21.33	UTP18 small subunit processome component	Ubiquitous expression in testis (RPKM 20.7), lymph node (RPKM 10.4) and 25 other tissues
UTP20	chr12	101280109	101386616	+	ENSG00000120800.4	protein_coding	1A6/DRIM|DRIM	12q23.2	UTP20 small subunit processome component	UTP20 is a component of the U3 small nucleolar RNA (snoRNA) (SNORD3A; MIM 180710) protein complex (U3 snoRNP) and is involved in 18S rRNA processing (Wang et al., 2007 [PubMed 17498821]).[supplied by OMIM, Jun 2009]
UTP23	chr8	116766503	116849463	+	ENSG00000147679.11	protein_coding	C8orf53	8q24.11	UTP23 small subunit processome component	Ubiquitous expression in thyroid (RPKM 6.0), ovary (RPKM 5.7) and 25 other tissues
UTP25	chr1	 209827972	209857565	+	ENSG00000117597	protein-coding	C1orf107|DEF|DIEXF|DJ434O14.5	1q32.2	UTP25 small subunit processor component	Ubiquitous expression in ovary (RPKM 3.8), thyroid (RPKM 2.8) and 25 other tissues
UTP4	chr16	69131291	69231130	+	ENSG00000141076.17	protein_coding	CIRH1A|CIRHIN|NAIC|TEX292	16q22.1	UTP4 small subunit processome component	This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
UTP6	chr17	31860899	31901765	-	ENSG00000108651.9	protein_coding	C17orf40|HCA66	17q11.2	UTP6 small subunit processome component	Ubiquitous expression in lymph node (RPKM 15.1), testis (RPKM 14.9) and 25 other tissues
UTRN	chr6	144285701	144853034	+	ENSG00000152818.18	protein_coding	DMDL|DRP|DRP1	6q24.2	utrophin	This gene shares both structural and functional similarities with the dystrophin gene. It contains an actin-binding N-terminus, a triple coiled-coil repeat central region, and a C-terminus that consists of protein-protein interaction motifs which interact with dystroglycan protein components. The protein encoded by this gene is located at the neuromuscular synapse and myotendinous junctions, where it participates in post-synaptic membrane maintenance and acetylcholine receptor clustering. Mouse studies suggest that this gene may serve as a functional substitute for the dystrophin gene and therefore, may serve as a potential therapeutic alternative to muscular dystrophy which is caused by mutations in the dystrophin gene. Alternative splicing of the utrophin gene has been described; however, the full-length nature of these variants has not yet been determined. [provided by RefSeq, Jul 2008]
UTS2	chr1	7843083	7853512	-	ENSG00000049247.13	protein_coding	PRO1068|U-II|UCN2|UII	1p36.23	urotensin 2	This gene encodes a mature peptide that is an active cyclic heptapeptide absolutely conserved from lamprey to human. The active peptide acts as a vasoconstrictor and is expressed only in brain tissue. Despite the gene family name similarity, this gene is not homologous to urocortin, a member of the sauvagine/corticotropin-releasing factor/urotensin I family. Most of the proprotein is cleaved to make the mature peptide. Transcript variants encoding different preproprotein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
UTS2B	chr3	191267168	191330536	-	ENSG00000188958.9	protein_coding	U-IIB|U2B|UIIB|URP|UTS2D	3q28	urotensin 2B	Low expression observed in reference dataset
UTS2R	chr17	82374230	82375586	+	ENSG00000181408.3	protein_coding	GPR14|UR-2-R|UTR|UTR2	17q25.3	urotensin 2 receptor	-
UVRAG	chr11	75815167	76143195	+	ENSG00000198382.8	protein_coding	DHTX|VPS38|p63	11q13.5	UV radiation resistance associated	This gene complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells and encodes a protein with a C2 domain. The protein activates the Beclin1-PI(3)KC3 complex, promoting autophagy and suppressing the proliferation and tumorigenicity of human colon cancer cells. Chromosomal aberrations involving this gene are associated with left-right axis malformation and mutations in this gene have been associated with colon cancer. [provided by RefSeq, Jul 2008]
UVSSA	chr4	1347266	1388049	+	ENSG00000163945.15	protein_coding	KIAA1530|UVSS3	4p16.3	UV stimulated scaffold protein A	The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
VAC14	chr16	70687439	70801161	-	ENSG00000103043.14	protein_coding	ArPIKfyve|TAX1BP2|TRX	16q22.1-q22.2	VAC14 component of PIKFYVE complex	This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities. [provided by RefSeq, May 2017]
VAC14-AS1	chr16	70755098	70773251	+	ENSG00000214353.7	antisense	-	16q22.1	VAC14 antisense RNA 1	-
VAMP1	chr12	6462237	6470987	-	ENSG00000139190.16	protein_coding	CMS25|SPAX1|SYB1|VAMP-1	12p13.31	vesicle associated membrane protein 1	Synapotobrevins, syntaxins, and the synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Mutations in this gene are associated with autosomal dominant spastic ataxia 1. Multiple alternative splice variants have been described, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2014]
VAMP2	chr17	8159149	8163546	-	ENSG00000220205.8	protein_coding	NEDHAHM|SYB2|VAMP-2	17p13.1	vesicle associated membrane protein 2	The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is thought to participate in neurotransmitter release at a step between docking and fusion. The protein forms a stable complex with syntaxin, synaptosomal-associated protein, 25 kD, and synaptotagmin. It also forms a distinct complex with synaptophysin. It is a likely candidate gene for familial infantile myasthenia (FIMG) because of its map location and because it encodes a synaptic vesicle protein of the type that has been implicated in the pathogenesis of FIMG. [provided by RefSeq, Jul 2008]
VAMP3	chr1	7771269	7781432	+	ENSG00000049245.12	protein_coding	CEB	1p36.23	vesicle associated membrane protein 3	Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Because of its high homology to other known VAMPs, its broad tissue distribution, and its subcellular localization, the protein encoded by this gene was shown to be the human equivalent of the rodent cellubrevin. In platelets the protein resides on a compartment that is not mobilized to the plasma membrane on calcium or thrombin stimulation. [provided by RefSeq, Jul 2008]
VAMP4	chr1	171700160	171742247	-	ENSG00000117533.14	protein_coding	VAMP-4|VAMP24	1q24.3	vesicle associated membrane protein 4	Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. This protein may play a role in trans-Golgi network-to-endosome transport. [provided by RefSeq, Jul 2008]
VAMP5	chr2	85584408	85593412	+	ENSG00000168899.4	protein_coding	-	2p11.2	vesicle associated membrane protein 5	Ubiquitous expression in lung (RPKM 45.4), fat (RPKM 40.5) and 24 other tissues
VAMP8	chr2	85561562	85582031	+	ENSG00000118640.10	protein_coding	EDB|VAMP-8	2p11.2	vesicle associated membrane protein 8	This gene encodes an integral membrane protein that belongs to the synaptobrevin/vesicle-associated membrane protein subfamily of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs). The encoded protein is involved in the fusion of synaptic vesicles with the presynaptic membrane.[provided by RefSeq, Jun 2010]
VANGL1	chr1	115641953	115698224	+	ENSG00000173218.14	protein_coding	KITENIN|LPP2|STB2|STBM2	1p13.1	VANGL planar cell polarity protein 1	This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
VANGL2	chr1	160400586	160428678	+	ENSG00000162738.5	protein_coding	LPP1|LTAP|STB1|STBM|STBM1	1q23.2	VANGL planar cell polarity protein 2	The protein encoded by this gene is a membrane protein involved in the regulation of planar cell polarity, especially in the stereociliary bundles of the cochlea. The encoded protein transmits directional signals to individual cells or groups of cells in epithelial sheets. This protein is also involved in the development of the neural plate. [provided by RefSeq, Sep 2011]
VAPA	chr18	9914002	9960021	+	ENSG00000101558.13	protein_coding	VAMP-A|VAP-33|VAP-A|VAP33|hVAP-33	18p11.22	VAMP associated protein A	The protein encoded by this gene is a type IV membrane protein. It is present in the plasma membrane and intracellular vesicles. It may also be associated with the cytoskeleton. This protein may function in vesicle trafficking, membrane fusion, protein complex assembly and cell motility. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
VARS1	chr6	 31777518	31795752	-	ENSG00000204394	protein-coding	G7A|NDMSCA|VARS|VARS2	6p21.33	valyl-tRNA synthetase 1	Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. The protein encoded by this gene belongs to class-I aminoacyl-tRNA synthetase family and is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]
VARS2	chr6	30908242	30926459	+	ENSG00000137411.16	protein_coding	COXPD20|VALRS|VARS2L|VARSL	6p21.33	valyl-tRNA synthetase 2, mitochondrial	This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014]
VASH1	chr14	76762189	76783015	+	ENSG00000071246.10	protein_coding	KIAA1036|TTCP 1	14q24.3	vasohibin 1	Ubiquitous expression in brain (RPKM 12.0), placenta (RPKM 11.8) and 25 other tissues
VASH2	chr1	212950520	212992037	+	ENSG00000143494.15	protein_coding	-	1q32.3	vasohibin 2	-
VASN	chr16	4371848	4383528	+	ENSG00000168140.4	protein_coding	SLITL2	16p13.3	vasorin	Broad expression in placenta (RPKM 16.9), kidney (RPKM 16.4) and 24 other tissues
VASP	chr19	45506579	45526983	+	ENSG00000125753.13	protein_coding	-	19q13.32	vasodilator stimulated phosphoprotein	Ubiquitous expression in appendix (RPKM 50.6), spleen (RPKM 48.4) and 25 other tissues
VAT1	chr17	43014605	43025123	-	ENSG00000108828.15	protein_coding	VATI	17q21.31	vesicle amine transport 1	Synaptic vesicles are responsible for regulating the storage and release of neurotransmitters in the nerve terminal. The protein encoded by this gene is an abundant integral membrane protein of cholinergic synaptic vesicles and is thought to be involved in vesicular transport. It belongs to the quinone oxidoreductase subfamily of zinc-containing alcohol dehydrogenase proteins. [provided by RefSeq, Jul 2008]
VAV1	chr19	6772714	6857366	+	ENSG00000141968.7	protein_coding	VAV	19p13.3	vav guanine nucleotide exchange factor 1	This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. The encoded protein is important in hematopoiesis, playing a role in T-cell and B-cell development and activation. The encoded protein has been identified as the specific binding partner of Nef proteins from HIV-1. Coexpression and binding of these partners initiates profound morphological changes, cytoskeletal rearrangements and the JNK/SAPK signaling cascade, leading to increased levels of viral transcription and replication. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]
VAV2	chr9	133761894	133992604	-	ENSG00000160293.16	protein_coding	VAV-2	9q34.2	vav guanine nucleotide exchange factor 2	VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
VAV3	chr1	107571160	107965144	-	ENSG00000134215.15	protein_coding	-	1p13.3	vav guanine nucleotide exchange factor 3	Broad expression in kidney (RPKM 10.0), skin (RPKM 8.3) and 17 other tissues
VAV3-AS1	chr1	107964443	107994607	+	ENSG00000230489.1	antisense	-	1p13.3	VAV3 antisense RNA 1	-
VAX2	chr2	70900590	70933446	+	ENSG00000116035.2	protein_coding	DRES93	2p13.3	ventral anterior homeobox 2	This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq, Sep 2008]
VCAM1	chr1	100719742	100739045	+	ENSG00000162692.10	protein_coding	CD106|INCAM-100	1p21.2	vascular cell adhesion molecule 1	This gene is a member of the Ig superfamily and encodes a cell surface sialoglycoprotein expressed by cytokine-activated endothelium. This type I membrane protein mediates leukocyte-endothelial cell adhesion and signal transduction, and may play a role in the development of artherosclerosis and rheumatoid arthritis. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2010]
VCAN	chr5	83471465	83582303	+	ENSG00000038427.15	protein_coding	CSPG2|ERVR|GHAP|PG-M|WGN|WGN1	5q14.2-q14.3	versican	This gene is a member of the aggrecan/versican proteoglycan family. The protein encoded is a large chondroitin sulfate proteoglycan and is a major component of the extracellular matrix. This protein is involved in cell adhesion, proliferation, proliferation, migration and angiogenesis and plays a central role in tissue morphogenesis and maintenance. Mutations in this gene are the cause of Wagner syndrome type 1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
VCL	chr10	73995193	74121363	+	ENSG00000035403.17	protein_coding	CMD1W|CMH15|HEL114|MV|MVCL	10q22.2	vinculin	Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
VCP	chr9	35056064	35073249	-	ENSG00000165280.15	protein_coding	CDC48|FTDALS6|TERA|p97	9p13.3	valosin containing protein	This gene encodes a member of the AAA ATPase family of proteins. The encoded protein plays a role in protein degradation, intracellular membrane fusion, DNA repair and replication, regulation of the cell cycle, and activation of the NF-kappa B pathway. This protein forms a homohexameric complex that interacts with a variety of cofactors and extracts ubiquitinated proteins from lipid membranes or protein complexes. Mutations in this gene cause IBMPFD (inclusion body myopathy with paget disease of bone and frontotemporal dementia), ALS (amyotrophic lateral sclerosis) and Charcot-Marie-Tooth disease in human patients. [provided by RefSeq, Aug 2017]
VCPIP1	chr8	66628487	66667217	-	ENSG00000175073.7	protein_coding	DUBA3|VCIP135	8q13.1	valosin containing protein interacting protein 1	Ubiquitous expression in bone marrow (RPKM 10.6), spleen (RPKM 6.5) and 25 other tissues
VCPKMT	chr14	50108632	50116600	-	ENSG00000100483.13	protein_coding	C14orf138|METTL21D|VCP-KMT	14q21.3	valosin containing protein lysine methyltransferase	Ubiquitous expression in bone marrow (RPKM 3.1), testis (RPKM 3.0) and 25 other tissues
VDAC1	chr5	133971915	134005133	-	ENSG00000213585.10	protein_coding	PORIN|VDAC-1	5q31.1	voltage dependent anion channel 1	This gene encodes a voltage-dependent anion channel protein that is a major component of the outer mitochondrial membrane. The encoded protein facilitates the exchange of metabolites and ions across the outer mitochondrial membrane and may regulate mitochondrial functions. This protein also forms channels in the plasma membrane and may be involved in transmembrane electron transport. Alternate splicing results in multiple transcript variants. Multiple pseudogenes of this gene are found on chromosomes 1, 2 3, 6, 9, 12, X and Y.[provided by RefSeq, Sep 2010]
VDAC2	chr10	75210154	75231448	+	ENSG00000165637.13	protein_coding	POR	10q22.2	voltage dependent anion channel 2	This gene encodes a member of the voltage-dependent anion channel pore-forming family of proteins that are considered the main pathway for metabolite diffusion across the mitochondrial outer membrane. The encoded protein is also thought to be involved in the mitochondrial apoptotic pathway via regulation of BCL2-antagonist/killer 1 protein activity. Pseudogenes have been identified on chromosomes 1, 2, 12 and 21, and alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
VDAC2P4	chr2	134797169	134797879	+	ENSG00000234682.1	processed_pseudogene	-	2q21.3	VDAC2 pseudogene 4	-
VDAC3	chr8	42391624	42405897	+	ENSG00000078668.13	protein_coding	HD-VDAC3|VDAC-3	8p11.21	voltage dependent anion channel 3	This gene encodes a voltage-dependent anion channel (VDAC), and belongs to the mitochondrial porin family. VDACs are small, integral membrane proteins that traverse the outer mitochondrial membrane and conduct ATP and other small metabolites. They are known to bind several kinases of intermediary metabolism, thought to be involved in translocation of adenine nucleotides, and are hypothesized to form part of the mitochondrial permeability transition pore, which results in the release of cytochrome c at the onset of apoptotic cell death. Alternatively transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
VDR	chr12	47841537	47943048	-	ENSG00000111424.10	protein_coding	NR1I1|PPP1R163	12q13.11	vitamin D receptor	This gene encodes vitamin D3 receptor, which is a member of the nuclear hormone receptor superfamily of ligand-inducible transcription factors. This receptor also functions as a receptor for the secondary bile acid, lithocholic acid. Downstream targets of vitamin D3 receptor are principally involved in mineral metabolism, though this receptor regulates a variety of other metabolic pathways, such as those involved in immune response and cancer. Mutations in this gene are associated with type II vitamin D-resistant rickets. A single nucleotide polymorphism in the initiation codon results in an alternate translation start site three codons downstream. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]
VEGFA	chr6	43770184	43786487	+	ENSG00000112715.21	protein_coding	MVCD1|VEGF|VPF	6p21.1	vascular endothelial growth factor A	This gene is a member of the PDGF/VEGF growth factor family. It encodes a heparin-binding protein, which exists as a disulfide-linked homodimer. This growth factor induces proliferation and migration of vascular endothelial cells, and is essential for both physiological and pathological angiogenesis. Disruption of this gene in mice resulted in abnormal embryonic blood vessel formation. This gene is upregulated in many known tumors and its expression is correlated with tumor stage and progression. Elevated levels of this protein are found in patients with POEMS syndrome, also known as Crow-Fukase syndrome. Allelic variants of this gene have been associated with microvascular complications of diabetes 1 (MVCD1) and atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been described. There is also evidence for alternative translation initiation from upstream non-AUG (CUG) codons resulting in additional isoforms. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is antiangiogenic. Expression of some isoforms derived from the AUG start codon is regulated by a small upstream open reading frame, which is located within an internal ribosome entry site. The levels of VEGF are increased during infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), thus promoting inflammation by facilitating recruitment of inflammatory cells, and by increasing the level of angiopoietin II (Ang II), one of two products of the SARS-CoV-2 binding target, angiotensin-converting enzyme 2 (ACE2). In turn, Ang II facilitates the elevation of VEGF, thus forming a vicious cycle in the release of inflammatory cytokines. [provided by RefSeq, Jun 2020]
VEGFB	chr11	64234538	64238793	+	ENSG00000173511.9	protein_coding	VEGFL|VRF	11q13.1	vascular endothelial growth factor B	This gene encodes a member of the PDGF (platelet-derived growth factor)/VEGF (vascular endothelial growth factor) family. The VEGF family members regulate the formation of blood vessels and are involved in endothelial cell physiology. This member is a ligand for VEGFR-1 (vascular endothelial growth factor receptor 1) and NRP-1 (neuropilin-1). Studies in mice showed that this gene was co-expressed with nuclear-encoded mitochondrial genes and the encoded protein specifically controlled endothelial uptake of fatty acids. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Sep 2011]
VEGFC	chr4	176683538	176792727	-	ENSG00000150630.3	protein_coding	Flt4-L|LMPH1D|LMPHM4|VRP	4q34.3	vascular endothelial growth factor C	The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family. The encoded protein promotes angiogenesis and endothelial cell growth, and can also affect the permeability of blood vessels. The proprotein is further cleaved into a fully processed form that can bind and activate VEGFR-2 and VEGFR-3 receptors. [provided by RefSeq, Apr 2014]
VENTX	chr10	133237404	133241929	+	ENSG00000151650.7	protein_coding	HPX42B|NA88A|VENTX2	10q26.3	VENT homeobox	This gene encodes a member of the Vent family of homeodomain proteins. The encoded protein may function as a transcriptional repressor and be involved in mesodermal patterning and hemopoietic stem cell maintenance. Multiple pseudogenes exist for this gene. A transcribed pseudogene located on chromosome X may lead to antigen production in certain melanomas. [provided by RefSeq, Jul 2008]
VEPH1	chr3	157259742	157533619	-	ENSG00000197415.11	protein_coding	MELT|VEPH	3q25.31-q25.32	ventricular zone expressed PH domain containing 1	Biased expression in lung (RPKM 12.0), adrenal (RPKM 8.2) and 8 other tissues
VEZF1	chr17	57971547	57988259	-	ENSG00000136451.8	protein_coding	DB1|ZNF161	17q22	vascular endothelial zinc finger 1	Transcriptional regulatory proteins containing tandemly repeated zinc finger domains are thought to be involved in both normal and abnormal cellular proliferation and differentiation. ZNF161 is a C2H2-type zinc finger protein (Koyano-Nakagawa et al., 1994 [PubMed 8035792]). See MIM 603971 for general information on zinc finger proteins.[supplied by OMIM, Sep 2008]
VEZT	chr12	95217746	95302790	+	ENSG00000028203.17	protein_coding	VEZATIN	12q22	vezatin, adherens junctions transmembrane protein	This gene encodes a transmembrane protein which has been localized to adherens junctions and shown to bind to myosin VIIA. Examination of expression of this gene in gastric cancer tissues have shown that expression is decreased which appears to be related to hypermethylation of the promoter. Expression of this gene may also be inhibited by binding of a specific microRNA to a target sequence in the 3 UTR of the transcripts. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
VGF	chr7	101162509	101165593	-	ENSG00000128564.6	protein_coding	SCG7|SgVII	7q22.1	VGF nerve growth factor inducible	This gene is specifically expressed in a subpopulation of neuroendocrine cells, and is upregulated by nerve growth factor. The structural organization of this gene is similar to that of the rat gene, and both the translated and the untranslated regions show a high degree of sequence similarity to the rat gene. The encoded secretory protein also shares similarities with the secretogranin/chromogranin family, however, its exact function is not known. [provided by RefSeq, Jul 2008]
VGLL2	chr6	117265558	117273565	+	ENSG00000170162.13	protein_coding	VGL2|VITO1	6q22.1	vestigial like family member 2	This gene encodes a protein with a transcriptional enhancer factor 1 (TEF-1) interaction domain. The encoded protein may act as a co-factor of TEF-1 regulated gene expression during skeletal muscle development. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]
VGLL3	chr3	86876388	86991119	-	ENSG00000206538.8	protein_coding	VGL-3|VGL3	3p12.1	vestigial like family member 3	Biased expression in placenta (RPKM 19.8), fat (RPKM 7.7) and 12 other tissues
VGLL4	chr3	11556070	11771350	-	ENSG00000144560.14	protein_coding	VGL-4	3p25.3-p25.2	vestigial like family member 4	Ubiquitous expression in ovary (RPKM 26.1), thyroid (RPKM 18.5) and 25 other tissues
VHL	chr3	10141008	10152220	+	ENSG00000134086.7	protein_coding	HRCA1|RCA1|VHL1|pVHL	3p25.3	von Hippel-Lindau tumor suppressor	Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
VIL1	chr2	218419092	218453295	+	ENSG00000127831.10	protein_coding	D2S1471|VIL	2q35	villin 1	This gene encodes a member of a family of calcium-regulated actin-binding proteins.  This protein represents a dominant part of the brush border cytoskeleton which functions in the capping, severing, and bundling of actin filaments.  Two mRNAs of 2.7 kb and 3.5 kb have been observed; they result from utilization of alternate poly-adenylation signals present in the terminal exon. [provided by RefSeq, Jul 2008]
VILL	chr3	37988059	38007188	+	ENSG00000136059.14	protein_coding	-	3p22.2	villin like	Broad expression in stomach (RPKM 21.1), small intestine (RPKM 13.2) and 17 other tissues
VIM	chr10	17228259	17237593	+	ENSG00000026025.15	protein_coding	-	10p13	vimentin	Ubiquitous expression in ovary (RPKM 1051.1), fat (RPKM 720.1) and 22 other tissues
VIM-AS1	chr10	17214239	17229985	-	ENSG00000229124.6	antisense	-	10p13	VIM antisense RNA 1	-
VIM2P	chr6	126602356	126603649	-	ENSG00000220548.3	processed_pseudogene	VIM2|VIMP1|lncRNA-CIR	6q22.32	vimentin 2, pseudogene	-
VIP	chr6	152750798	152759765	+	ENSG00000146469.12	protein_coding	PHM27	6q25.2	vasoactive intestinal peptide	The protein encoded by this gene belongs to the glucagon family. It stimulates myocardial contractility, causes vasodilation, increases glycogenolysis, lowers arterial blood pressure and relaxes the smooth muscle of trachea, stomach and gall bladder. The protein also acts as an antimicrobial peptide with antibacterial and antifungal activity. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 2014]
VIPAS39	chr14	77426675	77457952	-	ENSG00000151445.15	protein_coding	C14orf133|SPE-39|SPE39|VIPAR|VPS16B|hSPE-39	14q24.3	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	This gene encodes a protein involved in the sorting of lysosomal proteins. Mutations in this gene are associated with ARCS2 (arthrogryposis, renal dysfunction, and cholestasis-2). Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]
VIPR1	chr3	42489299	42537573	+	ENSG00000114812.12	protein_coding	HVR1|II|PACAP-R-2|PACAP-R2|RDC1|V1RG|VAPC1|VIP-R-1|VIPR|VIRG|VPAC1|VPAC1R|VPCAP1R	3p22.1	vasoactive intestinal peptide receptor 1	This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
VIPR1-AS1	chr3	42506465	42533258	-	ENSG00000232354.8	antisense	-	3p22.1	VIPR1 antisense RNA 1	-
VIPR2	chr7	159028175	159144957	-	ENSG00000106018.13	protein_coding	C16DUPq36.3|DUP7q36.3|PACAP-R-3|PACAP-R3|VIP-R-2|VPAC2|VPAC2R|VPCAP2R	7q36.3	vasoactive intestinal peptide receptor 2	This gene encodes a receptor for vasoactive intestinal peptide, a small neuropeptide. Vasoactive intestinal peptide is involved in smooth muscle relaxation, exocrine and endocrine secretion, and water and ion flux in lung and intestinal epithelia. Its actions are effected through integral membrane receptors associated with a guanine nucleotide binding protein which activates adenylate cyclase. [provided by RefSeq, Aug 2011]
VIRMA	chr8	 94487689	94553469	-	ENSG00000164944	protein-coding	KIAA1429|MSTP054|fSAP121	8q22.1	vir like m6A methyltransferase associated	Ubiquitous expression in testis (RPKM 11.6), ovary (RPKM 8.4) and 25 other tissues
VIT	chr2	36696690	36814792	+	ENSG00000205221.12	protein_coding	VIT1	2p22.2	vitrin	This gene encodes an extracellular matrix (ECM) protein. The protein may be associated with cell adhesion and migration. High levels of expression of the protein in specific parts of the brain suggest its likely role in neural development. [provided by RefSeq, Jun 2016]
VKORC1	chr16	31090842	31095980	-	ENSG00000167397.14	protein_coding	EDTP308|MST134|MST576|VKCFD2|VKOR	16p11.2	vitamin K epoxide reductase complex subunit 1	This gene encodes the catalytic subunit of the vitamin K epoxide reductase complex, which is responsible for the reduction of inactive vitamin K 2,3-epoxide to active vitamin K in the endoplasmic reticulum membrane. Vitamin K is a required co-factor for carboxylation of glutamic acid residues by vitamin K-dependent gamma-carboxylase in blood-clotting enzymes. Allelic variation in this gene is associated with vitamin k-dependent clotting factors combined deficiency of 2, and increased resistance or sensitivity to warfarin, an inhibitor of vitamin K epoxide reductase. Pseudogenes of this gene are located on chromosomes 1 and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
VKORC1L1	chr7	65873267	65959563	+	ENSG00000196715.5	protein_coding	-	7q11.21	vitamin K epoxide reductase complex subunit 1 like 1	Ubiquitous expression in fat (RPKM 25.2), lung (RPKM 7.7) and 23 other tissues
VLDLR	chr9	2621834	2660053	+	ENSG00000147852.15	protein_coding	CAMRQ1|CARMQ1|CHRMQ1|VLDL-R|VLDLRCH	9p24.2	very low density lipoprotein receptor	The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009]
VLDLR-AS1	chr9	2422702	2643359	-	ENSG00000236404.8	antisense	linc-VLDLR|lincRNA-VLDLR	9p24.2	VLDLR antisense RNA 1	Biased expression in ovary (RPKM 6.6), fat (RPKM 3.9) and 12 other tissues
VMAC	chr19	5904858	5910853	+	ENSG00000187650.3	protein_coding	-	19p13.3	vimentin type intermediate filament associated coiled-coil protein	-
VMO1	chr17	4785285	4786433	-	ENSG00000182853.11	protein_coding	ERGA6350|PRO21055	17p13.2	vitelline membrane outer layer 1 homolog	Broad expression in spleen (RPKM 5.3), lung (RPKM 3.3) and 24 other tissues
VMP1	chr17	59707192	59842255	+	ENSG00000062716.12	protein_coding	EPG3|TANGO5|TMEM49	17q23.1	vacuole membrane protein 1	This gene encodes a transmembrane protein that plays a key regulatory role in the process of autophagy. The ectopic overexpression of the encoded protein in cultured cells triggers autophagy even under nutrient-rich conditions. This gene is overexpressed in pancreatitis affected acinar cells where the encoded protein mediates sequestration and degradation of potentially deleterious activated zymogen granules in a process termed, zymophagy. [provided by RefSeq, Jul 2016]
VN1R108P	chr20	25734264	25735093	+	ENSG00000230772.1	unprocessed_pseudogene	-	20p11.1	vomeronasal 1 receptor 108 pseudogene	-
VN1R20P	chr3	13926813	13927778	+	ENSG00000233121.1	unitary_pseudogene	-	3p25.1	vomeronasal 1 receptor 20 pseudogene	-
VN1R42P	chr7	64933273	64933616	+	ENSG00000223476.1	processed_pseudogene	-	7q11.21	vomeronasal 1 receptor 42 pseudogene	-
VN2R19P	chr19	58012589	58025926	-	ENSG00000235974.1	unitary_pseudogene	-	19q13.43	vomeronasal 2 receptor 19, pseudogene	-
VNN1	chr6	132681590	132714049	-	ENSG00000112299.7	protein_coding	HDLCQ8|Tiff66	6q23.2	vanin 1	This gene encodes a member of the vanin family of proteins, which share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. This protein, like its mouse homolog, is likely a GPI-anchored cell surface molecule. The mouse protein is expressed by the perivascular thymic stromal cells and regulates migration of T-cell progenitors to the thymus. This gene lies in close proximity to, and in the same transcriptional orientation as, two other vanin genes on chromosome 6q23-q24. [provided by RefSeq, Feb 2009]
VNN2	chr6	132743870	132763459	-	ENSG00000112303.13	protein_coding	FOAP-4|GPI-80	6q23.2	vanin 2	This gene product is a member of the Vanin family of proteins that share extensive sequence similarity with each other, and also with biotinidase. The family includes secreted and membrane-associated proteins, a few of which have been reported to participate in hematopoietic cell trafficking. No biotinidase activity has been demonstrated for any of the vanin proteins, however, they possess pantetheinase activity, which may play a role in oxidative-stress response. The encoded protein is a GPI-anchored cell surface molecule that plays a role in transendothelial migration of neutrophils. This gene lies in close proximity to, and in same transcriptional orientation as two other vanin genes on chromosome 6q23-q24. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]
VNN3P	chr6	 132722787	132734765	-	ENSG00000093134	pseudogene	HSA238982|VNN3	6q23.2	vanin 3, pseudogene	-
VPREB1	chr22	22244675	22245515	+	ENSG00000169575.4	protein_coding	CD179a|IGI|IGVPB|VPREB	22q11.22	V-set pre-B cell surrogate light chain 1	The protein encoded by this gene belongs to the immunoglobulin superfamily and is expressed selectively at the early stages of B cell development, namely, in proB and early preB cells. This gene encodes the iota polypeptide chain that is associated with the Ig-mu chain to form a molecular complex which is expressed on the surface of pre-B cells. The complex is thought to regulate Ig gene rearrangements in the early steps of B-cell differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
VPREB3	chr22	23752743	23754468	-	ENSG00000128218.7	protein_coding	8HS20|N27C7-2	22q11.23|22q11	V-set pre-B cell surrogate light chain 3	The protein encoded by this gene is the human ortholog of the mouse VpreB3 (8HS20) protein, is thought to be involved in B-cell maturation, and may play a role in assembly of the pre-B cell receptor (pre-BCR). While the role of this protein in B-cell development has not yet been elucidated, studies with the chicken ortholog of this protein have found that when overexpressed, this protein localizes to the endoplasmic reticulum. The mouse ortholog of this protein has been shown to associate with membrane mu heavy chains early in the course of pre-B cell receptor biosynthesis. Expression of this gene has been observed in some lymphomas. [provided by RefSeq, Apr 2015]
VPS11	chr11	119067692	119081978	+	ENSG00000160695.14	protein_coding	END1|HLD12|PEP5|RNF108|hVPS11	11q23.3	VPS11 core subunit of CORVET and HOPS complexes	Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps11 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
VPS13A	chr9	77177353	77421541	+	ENSG00000197969.11	protein_coding	CHAC|CHOREIN	9q21.2	vacuolar protein sorting 13 homolog A	The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
VPS13A-AS1	chr9	77176756	77177994	-	ENSG00000232998.1	antisense	-	9q21.2	VPS13A antisense RNA 1	-
VPS13B	chr8	99013266	99877580	+	ENSG00000132549.18	protein_coding	CHS1|COH1	8q22.2	vacuolar protein sorting 13 homolog B	This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
VPS13C	chr15	61852389	62060473	-	ENSG00000129003.15	protein_coding	PARK23	15q22.2	vacuolar protein sorting 13 homolog C	This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
VPS13D	chr1	12230067	12512047	+	ENSG00000048707.13	protein_coding	SCAR4	1p36.22-p36.21	vacuolar protein sorting 13 homolog D	This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008]
VPS16	chr20	2840703	2866732	+	ENSG00000215305.9	protein_coding	DYT30|hVPS16	20p13	VPS16 core subunit of CORVET and HOPS complexes	Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
VPS18	chr15	40894430	40903975	+	ENSG00000104142.10	protein_coding	PEP3	15q15.1	VPS18 core subunit of CORVET and HOPS complexes	Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps18 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008]
VPS25	chr17	42773436	42779599	+	ENSG00000131475.6	protein_coding	DERP9|EAP20|FAP20	17q21.2	vacuolar protein sorting 25 homolog	This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Jul 2013]
VPS26A	chr10	69123512	69172861	+	ENSG00000122958.14	protein_coding	HB58|Hbeta58|PEP8A|VPS26	10q22.1	VPS26, retromer complex component A	This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
VPS26C	chr21	 37223420	37268108	-	ENSG00000157538	protein-coding	DCRA|DSCR3|DSCRA	21q22.13	VPS26 endosomal protein sorting factor C	The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and cognitive disability. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008]
VPS28	chr8	144423601	144428563	-	ENSG00000160948.13	protein_coding	-	8q24.3	VPS28 subunit of ESCRT-I	Ubiquitous expression in ovary (RPKM 46.0), duodenum (RPKM 44.3) and 25 other tissues
VPS29	chr12	110491097	110502117	-	ENSG00000111237.18	protein_coding	DC15|DC7|PEP11	12q24.11	VPS29 retromer complex component	This gene belongs to a group of vacuolar protein sorting (VPS) genes that, when functionally impaired, disrupt the efficient delivery of vacuolar hydrolases. The protein encoded by this gene is a component of a large multimeric complex, termed the retromer complex, which is involved in retrograde transport of proteins from endosomes to the trans-Golgi network. This VPS protein may be involved in the formation of the inner shell of the retromer coat for retrograde vesicles leaving the prevacuolar compartment. Alternative splice variants encoding different isoforms and representing non-protein coding transcripts have been found for this gene. [provided by RefSeq, Aug 2013]
VPS33A	chr12	122229564	122266521	-	ENSG00000139719.9	protein_coding	MPSPS	12q24.31	VPS33A core subunit of CORVET and HOPS complexes	This gene encodes a tethering protein and a core subunit of the homotypic fusion and protein sorting (HOPS) complex. The HOPS complex and a second endosomal tethering complex called the class C core vacuole/endosome tethering (CORVET) complex, perform diverse functions in endocytosis including membrane tethering, RabGTPase interaction, activation and proofreading of synaptic-soluble N-ethylmaleimide-sensitive factor attachment receptor (SNARE) assembly to drive membrane fusion, and endosome-to-cytoskeleton attachment. The HOPS complex controls endosome maturation as well as endosome traffic to the lysosome. This complex is essential for vacuolar fusion and is required for adaptor protein complex 3-dependent transport from the golgi to the vacuole. The encoded protein belongs to the Sec1/Munc18 (SM) family of SNARE-mediated membrane fusion regulators. Naturally occurring mutations in this gene are associated with a novel mucopolysaccharidosis-like disease. [provided by RefSeq, Apr 2017]
VPS33B	chr15	90998416	91022603	-	ENSG00000184056.14	protein_coding	-	15q26.1	VPS33B late endosome and lysosome associated	Ubiquitous expression in brain (RPKM 5.8), testis (RPKM 4.9) and 25 other tissues
VPS35	chr16	46656132	46689518	-	ENSG00000069329.16	protein_coding	MEM3|PARK17	16q11.2	VPS35 retromer complex component	This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. [provided by RefSeq, Jul 2008]
VPS35L	chr16	 19555703	19701163	+	ENSG00000103544	protein-coding	C16orf62|EC97|RTSC3	16p12.3	VPS35 endosomal protein sorting factor like	Ubiquitous expression in testis (RPKM 13.6), brain (RPKM 13.2) and 25 other tissues
VPS36	chr13	52412602	52450628	-	ENSG00000136100.12	protein_coding	C13orf9|CGI-145|EAP45	13q14.3	vacuolar protein sorting 36 homolog	This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A similar protein complex in rat is associated with RNA polymerase elongation factor II. [provided by RefSeq, Aug 2013]
VPS37A	chr8	17246571	17302427	+	ENSG00000155975.9	protein_coding	HCRP1|PQBP2|SPG53	8p22	VPS37A subunit of ESCRT-I	This gene belongs to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies. Expression of this gene is downregulated in hepatocellular carcinoma, and mutations in this gene are associated with autosomal recessive spastic paraplegia-53. A related pseudogene has been identified on chromosome 5. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]
VPS37B	chr12	122865328	122896444	-	ENSG00000139722.6	protein_coding	-	12q24.31	VPS37B subunit of ESCRT-I	-
VPS37C	chr11	61130256	61161617	-	ENSG00000167987.10	protein_coding	-	11q12.2	VPS37C subunit of ESCRT-I	Ubiquitous expression in prostate (RPKM 9.4), placenta (RPKM 8.1) and 25 other tissues
VPS37D	chr7	73667825	73672112	+	ENSG00000176428.5	protein_coding	WBSCR24	7q11.23	VPS37D subunit of ESCRT-I	Broad expression in kidney (RPKM 3.2), brain (RPKM 1.6) and 20 other tissues
VPS39	chr15	42158701	42208316	-	ENSG00000166887.15	protein_coding	TLP|VAM6|hVam6p	15q15.1	VPS39 subunit of HOPS complex	This gene encodes a protein that may promote clustering and fusion of late endosomes and lysosomes. The protein may also act as an adaptor protein that modulates the transforming growth factor-beta response by coupling the transforming growth factor-beta receptor complex to the Smad pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
VPS41	chr7	38722963	38932394	-	ENSG00000006715.15	protein_coding	HVPS41|HVSP41|SCAR29|hVps41p	7p14.1	VPS41 subunit of HOPS complex	Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [provided by RefSeq, Jul 2008]
VPS45	chr1	150067293	150145327	+	ENSG00000136631.12	protein_coding	H1|H1VPS45|SCN5|VPS45A|VPS45B|VPS54A|VSP45|VSP45A	1q21.2	vacuolar protein sorting 45 homolog	Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]
VPS4A	chr16	69311356	69326939	+	ENSG00000132612.15	protein_coding	CIMDAG|SKD1|SKD1A|SKD2|VPS4|VPS4-1	16q22.1	vacuolar protein sorting 4 homolog A	The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 16; the gene for the other resides on chromosome 18. [provided by RefSeq, Jul 2008]
VPS4B	chr18	63389190	63422483	-	ENSG00000119541.9	protein_coding	MIG1|SKD1|SKD1B|VPS4-2	18q21.33	vacuolar protein sorting 4 homolog B	The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. Mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be a yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 18; the gene for the other resides on chromosome 16. [provided by RefSeq, Jul 2008]
VPS50	chr7	93232340	93361121	+	ENSG00000004766.15	protein_coding	CCDC132|VPS54L	7q21.2-q21.3	VPS50 subunit of EARP/GARPII complex	Ubiquitous expression in brain (RPKM 5.6), thyroid (RPKM 4.2) and 25 other tissues
VPS51	chr11	65089324	65111860	+	ENSG00000149823.8	protein_coding	ANG2|ANG3|C11orf2|C11orf3|FFR|PCH13	11q13.1	VPS51 subunit of GARP complex	This gene encodes a member of the vacuolar protein sorting-associated protein 51 family. The encoded protein is a component of the Golgi-associated retrograde protein complex which acts as a tethering factor for carriers in retrograde transport from the early and late endosomes to the trans-Golgi network. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
VPS52	chr6	33250272	33272047	-	ENSG00000223501.8	protein_coding	ARE1|SAC2|SACM2L|dJ1033B10.5	6p21.32	VPS52 subunit of GARP complex	This gene encodes a protein that is similar to the yeast suppressor of actin mutations 2 gene. The yeast protein forms a subunit of the tetrameric Golgi-associated retrograde protein complex that is involved in vesicle trafficking from from both early and late endosomes, back to the trans-Golgi network. This gene is located on chromosome 6 in a head-to-head orientation with the gene encoding ribosomal protein S18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
VPS53	chr17	508668	721717	-	ENSG00000141252.19	protein_coding	HCCS1|PCH2E|hVps53L|pp13624	17p13.3	VPS53 subunit of GARP complex	This gene encodes a protein with sequence similarity to the yeast Vps53p protein. Vps53p is involved in retrograde vesicle trafficking in late Golgi. [provided by RefSeq, Jul 2008]
VPS54	chr2	63892146	64019072	-	ENSG00000143952.19	protein_coding	HCC8|PPP1R164|SLP-8p|VPS54L|WR|hVps54L	2p15-p14	VPS54 subunit of GARP complex	This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms [provided by RefSeq, Jul 2008]
VPS72	chr1	151169987	151195321	-	ENSG00000163159.12	protein_coding	CFL1|Swc2|TCFL1|YL-1|YL1	1q21.3	vacuolar protein sorting 72 homolog	The protein encoded by this gene is a shared subunit of two multi-component complexes, the histone acetyltransferase complex TRRAP/TIP60 as well as the chromatin remodeling SRCAP-containing complex. The TRRAP/TIP60 complex acetylates nucleosomal histones important for transcriptional regulation, double strand DNA break repair and apoptosis. The SRCAP-containing complex catalyzes the exchange of histone H2A with the histone variant Htz1 (H2AFZ) into nucleosomes. This protein may be responsible for binding H2AFZ, which has a role in chromosome segregation. This protein may also have a role in regulating long-term hematopoietic stem cell activity. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
VPS8	chr3	184812143	185052614	+	ENSG00000156931.15	protein_coding	KIAA0804	3q27.2	VPS8 subunit of CORVET complex	Ubiquitous expression in testis (RPKM 8.2), brain (RPKM 7.7) and 25 other tissues
VPS9D1	chr16	89707134	89720986	-	ENSG00000075399.13	protein_coding	ATP-BL|ATPBL|C16orf7	16q24.3	VPS9 domain containing 1	Ubiquitous expression in brain (RPKM 5.5), appendix (RPKM 5.3) and 25 other tissues
VPS9D1-AS1	chr16	89711856	89718165	+	ENSG00000261373.1	antisense	MYU	16q24.3	VPS9D1 antisense RNA 1	Ubiquitous expression in appendix (RPKM 4.0), brain (RPKM 3.4) and 25 other tissues
VRK1	chr14	96797304	96931722	+	ENSG00000100749.7	protein_coding	PCH1|PCH1A	14q32.2	VRK serine/threonine kinase 1	This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal liver, and carcinomas. Its protein localizes to the nucleus and has been shown to promote the stability and nuclear accumulation of a transcriptionally active p53 molecule and, in vitro, to phosphorylate Thr18 of p53 and reduce p53 ubiquitination. This gene, therefore, may regulate cell proliferation. This protein also phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and c-JUN. [provided by RefSeq, Jul 2008]
VRK2	chr2	57907651	58159920	+	ENSG00000028116.16	protein_coding	-	2p16.1	VRK serine/threonine kinase 2	Ubiquitous expression in adrenal (RPKM 6.3), appendix (RPKM 5.7) and 25 other tissues
VRK3	chr19	49976467	50025946	-	ENSG00000105053.10	protein_coding	-	19q13.33	VRK serine/threonine kinase 3	Broad expression in testis (RPKM 36.5), small intestine (RPKM 9.1) and 24 other tissues
VRTN	chr14	74303069	74360008	+	ENSG00000133980.4	protein_coding	C14orf115|vertnin	14q24.3	vertebrae development associated	Low expression observed in reference dataset
VSIG10	chr12	118063593	118136026	-	ENSG00000176834.13	protein_coding	-	12q24.23	V-set and immunoglobulin domain containing 10	-
VSIG10L	chr19	51331536	51342124	-	ENSG00000186806.5	protein_coding	-	19q13.41	V-set and immunoglobulin domain containing 10 like	-
VSIG2	chr11	124747472	124752238	-	ENSG00000019102.11	protein_coding	2210413P10Rik|CTH|CTXL	11q24.2	V-set and immunoglobulin domain containing 2	Biased expression in stomach (RPKM 210.7), colon (RPKM 56.0) and 6 other tissues
VSIG8	chr1	159854316	159862657	-	ENSG00000243284.1	protein_coding	-	1q23.2	V-set and immunoglobulin domain containing 8	Biased expression in skin (RPKM 5.5), kidney (RPKM 1.8) and 4 other tissues
VSIR	chr10	71747559	71773498	-	ENSG00000107738.19	protein_coding	B7-H5|B7H5|C10orf54|DD1alpha|Dies1|GI24|PD-1H|PP2135|SISP1|VISTA	10q22.1	V-set immunoregulatory receptor	Broad expression in spleen (RPKM 39.2), bone marrow (RPKM 38.8) and 23 other tissues
VSNL1	chr2	17539126	17657018	+	ENSG00000163032.11	protein_coding	HLP3|HPCAL3|HUVISL1|VILIP|VILIP-1	2p24.2	visinin like 1	This gene is a member of the visinin/recoverin subfamily of neuronal calcium sensor proteins. The encoded protein is strongly expressed in granule cells of the cerebellum where it associates with membranes in a calcium-dependent manner and modulates intracellular signaling pathways of the central nervous system by directly or indirectly regulating the activity of adenylyl cyclase. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
VSTM2B	chr19	29526499	29564479	+	ENSG00000187135.7	protein_coding	-	19q12	V-set and transmembrane domain containing 2B	-
VSTM2L	chr20	37903104	37945350	+	ENSG00000132821.11	protein_coding	C20orf102|dJ1118M15.2	20q11.23	V-set and transmembrane domain containing 2 like	Biased expression in brain (RPKM 19.4), gall bladder (RPKM 10.9) and 7 other tissues
VSTM4	chr10	49014245	49115509	-	ENSG00000165633.12	protein_coding	C10orf72	10q11.23	V-set and transmembrane domain containing 4	Broad expression in adrenal (RPKM 18.4), ovary (RPKM 14.7) and 19 other tissues
VSTM5	chr11	93818232	93850531	-	ENSG00000214376.5	protein_coding	C11orf90	11q21	V-set and transmembrane domain containing 5	Biased expression in placenta (RPKM 1.5), stomach (RPKM 0.6) and 9 other tissues
VSX1	chr20	25070885	25082365	-	ENSG00000100987.14	protein_coding	CAASDS|KTCN|KTCN1|PPCD|PPCD1|PPD|RINX	20p11.21	visual system homeobox 1	The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
VTA1	chr6	142147162	142224689	+	ENSG00000009844.15	protein_coding	6orf55|C6orf55|DRG-1|DRG1|HSPC228|LIP5|My012|SBP1	6q24.1-q24.2	vesicle trafficking 1	C6ORF55 encodes a protein involved in trafficking of the multivesicular body, an endosomal compartment involved in sorting membrane proteins for degradation in lysosomes (Ward et al., 2005 [PubMed 15644320]).[supplied by OMIM, Mar 2008]
VTI1A	chr10	112446998	112818744	+	ENSG00000151532.13	protein_coding	MMDS3|MVti1|VTI1RP2|Vti1-rp2	10q25.2	vesicle transport through interaction with t-SNAREs 1A	The protein encoded by this gene is a member of the family of soluble N-ethylmaleimide-sensitive fusion protein-attachment protein receptors (SNAREs) that function in intracellular trafficking. This family member is involved in vesicular transport between endosomes and the trans-Golgi network. It is a vesicle-associated SNARE (v-SNARE) that interacts with target membrane SNAREs (t-SNAREs). Polymorphisms in this gene have been associated with binocular function, and also with susceptibility to colorectal and lung cancers. A recurrent rearrangement has been found between this gene and the transcription factor 7-like 2 (TCF7L2) gene in colorectal cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
VTI1B	chr14	67647075	67674831	-	ENSG00000100568.10	protein_coding	VTI1|VTI1-LIKE|VTI1L|VTI2|v-SNARE|vti1-rp1	14q24.1	vesicle transport through interaction with t-SNAREs 1B	Ubiquitous expression in fat (RPKM 68.1), kidney (RPKM 45.6) and 25 other tissues
VTI1BP2	chr4	183483490	183484185	+	ENSG00000213434.2	processed_pseudogene	-	4q35.1	vesicle transport through interaction with t-SNAREs 1B pseudogene 2	-
VWA1	chr1	1434861	1442882	+	ENSG00000179403.11	protein_coding	HMNMYO|WARP	1p36.33	von Willebrand factor A domain containing 1	VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by OMIM, Nov 2010]
VWA2	chr10	114239330	114291513	+	ENSG00000165816.12	protein_coding	AMACO|CCSP-2|CCSP2|NET42	10q25.3	von Willebrand factor A domain containing 2	This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013]
VWA5A	chr11	124115362	124147721	+	ENSG00000110002.15	protein_coding	BCSC-1|BCSC1|LOH11CR2A	11q24.2	von Willebrand factor A domain containing 5A	Ubiquitous expression in colon (RPKM 15.2), gall bladder (RPKM 14.6) and 24 other tissues
VWA5B1	chr1	20290919	20354894	+	ENSG00000158816.15	protein_coding	-	1p36.12	von Willebrand factor A domain containing 5B1	Low expression observed in reference dataset
VWA7	chr6	31765590	31777294	-	ENSG00000204396.10	protein_coding	C6orf27|G7c|NG37	6p21.33	von Willebrand factor A domain containing 7	Ubiquitous expression in stomach (RPKM 3.5), kidney (RPKM 2.9) and 25 other tissues
VWA8	chr13	41566837	41961120	-	ENSG00000102763.17	protein_coding	KIAA0564|P7BP2	13q14.11	von Willebrand factor A domain containing 8	Ubiquitous expression in kidney (RPKM 6.4), fat (RPKM 4.0) and 25 other tissues
VWC2	chr7	49773661	49921950	+	ENSG00000188730.4	protein_coding	PSST739|UNQ739	7p12.2	von Willebrand factor C domain containing 2	This gene encodes a secreted bone morphogenic protein antagonist. The encoded protein is possibly involved in neural function and development and may have a role in cell adhesion.[provided by RefSeq, Oct 2009]
VWC2L	chr2	214411065	214578959	+	ENSG00000174453.9	protein_coding	-	2q34-q35	von Willebrand factor C domain containing 2 like	Restricted expression toward brain (RPKM 1.2)
VWCE	chr11	61258286	61295424	-	ENSG00000167992.12	protein_coding	URG11|VWC1	11q12.2	von Willebrand factor C and EGF domains	Broad expression in ovary (RPKM 4.8), liver (RPKM 2.1) and 15 other tissues
VWDE	chr7	12330885	12403941	-	ENSG00000146530.11	protein_coding	-	7p21.3	von Willebrand factor D and EGF domains	-
VWF	chr12	5948874	6124770	-	ENSG00000110799.13	protein_coding	F8VWF|VWD	12p13.31	von Willebrand factor	This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015]
VXN	chr8	 66493566	66518524	+	ENSG00000169085	protein-coding	C8orf46	8q13.1	vexin	Biased expression in brain (RPKM 41.0) and prostate (RPKM 1.1)
WAC	chr10	28532493	28623112	+	ENSG00000095787.21	protein_coding	BM-016|DESSH|PRO1741|Wwp4	10p12.1|10p12.1-p11.2	WW domain containing adaptor with coiled-coil	The protein encoded by this gene contains a WW domain, which is a protein module found in a wide range of signaling proteins. This domain mediates protein-protein interactions and binds proteins containing short linear peptide motifs that are proline-rich or contain at least one proline. This gene product shares 94% sequence identity with the WAC protein in mouse, however, its exact function is not known. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
WAC-AS1	chr10	28522652	28532743	-	ENSG00000254635.5	antisense	-	10p12.1	WAC antisense RNA 1 (head to head)	-
WAPL	chr10	86435256	86521815	-	ENSG00000062650.17	protein_coding	FOE|KIAA0261|WAPAL	10q23.2	WAPL cohesin release factor	Ubiquitous expression in testis (RPKM 17.0), lymph node (RPKM 9.9) and 25 other tissues
WARS1	chr14	 100333790	100376327	-	ENSG00000140105	protein-coding	GAMMA-2|HMN9|IFI53|IFP53|WARS	14q32.2	tryptophanyl-tRNA synthetase 1	Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. Tryptophanyl-tRNA synthetase (WARS) catalyzes the aminoacylation of tRNA(trp) with tryptophan and is induced by interferon. Tryptophanyl-tRNA synthetase belongs to the class I tRNA synthetase family. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
WARS2	chr1	119031216	119140671	-	ENSG00000116874.11	protein_coding	NEMMLAS|TrpRS|mtTrpRS	1p12	tryptophanyl tRNA synthetase 2, mitochondrial	Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
WARS2-IT1	chr1	119047405	119064785	+	ENSG00000224238.2	antisense	-	1p12	WARS2 intronic transcript 1	-
WAS	chrX	48676596	48691427	+	ENSG00000015285.10	protein_coding	IMD2|SCNX|THC|THC1|WASP|WASPA	Xp11.23	WASP actin nucleation promoting factor	 The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton.  The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins.  Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3.  Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene.  The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients.  A transcript variant arising as a result of alternative promoter usage, and containing a different 5 UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]
WASF1	chr6	110099819	110180004	-	ENSG00000112290.12	protein_coding	NEDALVS|SCAR1|WAVE|WAVE1	6q21	WASP family member 1	The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
WASF2	chr1	27404226	27490158	-	ENSG00000158195.10	protein_coding	IMD2|SCAR2|WASF4|WAVE2|dJ393P12.2	1p36.11	WASP family member 2	This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. The published map location (PMID:10381382) has been changed based on recent genomic sequence comparisons, which indicate that the expressed gene is located on chromosome 1, and a pseudogene may be located on chromosome X. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
WASF3	chr13	26557703	26688948	+	ENSG00000132970.12	protein_coding	Brush-1|SCAR3|WAVE3	13q12.13	WASP family member 3	This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. A pseudogene of this gene have been defined on chromosome 6. Alternative splicing results in multiple transcript variants [provided by RefSeq, May 2014]
WASF5P	chr6	31287510	31288964	-	ENSG00000231402.1	processed_pseudogene	-	6p21.33	WASP family member 5, pseudogene	-
WASH2P	chr2	113588550	113599043	+	ENSG00000146556.14	transcribed_unprocessed_pseudogene	FAM39B	2q14.1	WASP family homolog 2, pseudogene	Ubiquitous expression in testis (RPKM 26.7), spleen (RPKM 25.8) and 25 other tissues
WASH4P	chr16	14381	18068	-	ENSG00000234769.7	unprocessed_pseudogene	CXYorf1P|FAM39CP	16p13.3	WASP family homolog 4, pseudogene	Predicted to enable alpha-tubulin binding activity. Predicted to be involved in Arp2/3 complex-mediated actin nucleation and retrograde transport, endosome to Golgi. Predicted to be located in early endosome and recycling endosome. Predicted to be part of WASH complex. [provided by Alliance of Genome Resources, Apr 2022]
WASH7P	chr1	14404	29570	-	ENSG00000227232.5	unprocessed_pseudogene	FAM39F|WASH5P	1p36.33	WASP family homolog 7, pseudogene	-
WASHC2C	chr10	45727200	45792961	+	ENSG00000172661.17	protein_coding	FAM21A|FAM21C|VPEF	10q11.22	WASH complex subunit 2C	Ubiquitous expression in bone marrow (RPKM 23.7), thyroid (RPKM 19.2) and 25 other tissues
WASHC3	chr12	102012927	102062149	-	ENSG00000120860.10	protein_coding	CCDC53|CGI-116	12q23.2	WASH complex subunit 3	Broad expression in testis (RPKM 48.2), adrenal (RPKM 16.9) and 24 other tissues
WASHC4	chr12	105107324	105169134	+	ENSG00000136051.13	protein_coding	KIAA1033|MRT43|SWIP	12q23.3	WASH complex subunit 4	This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
WASHC5	chr8	125024260	125091840	-	ENSG00000164961.15	protein_coding	KIAA0196|RTSC|RTSC1|SPG8	8q24.13	WASH complex subunit 5	This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 2009]
WASIR2	chr16	22910	25123	+	ENSG00000231439.4	lincRNA	NCRNA00286A	16p13.3	WASH and IL9R antisense RNA 2	Biased expression in ovary (RPKM 2.3), thyroid (RPKM 0.7) and 8 other tissues
WASL	chr7	123681935	123749067	-	ENSG00000106299.7	protein_coding	N-WASP|NWASP|WASPB	7q31.32	WASP like actin nucleation promoting factor	This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 2013]
WBP1	chr2	74458329	74460891	+	ENSG00000239779.6	protein_coding	WBP-1	2p13.1	WW domain binding protein 1	The globular WW domain, named for the conserved tryptophan residues in the protein motif present in various structural and regulatory proteins, is known to play a role in the mediation of protein-protein interactions. This gene encodes a ligand of the WW domain of the Yes kinase-associated protein. Readthrough transcription of the neighboring upstream gene, which encodes INO80 complex subunit B, into this gene generates a non-coding transcript. [provided by RefSeq, Feb 2011]
WBP11	chr12	14784579	14803540	-	ENSG00000084463.7	protein_coding	BUG13|CFAP90|FAP90|NPWBP|PPP1R165|SIPP1|VCTERL|VCTRL|WBP-11	12p12.3	WW domain binding protein 11	This gene encodes a nuclear protein, which colocalizes with mRNA splicing factors and intermediate filament-containing perinuclear networks. This protein has 95% amino acid sequence identity to the mouse Wbp11 protein. It contains two proline-rich regions that bind to the WW domain of Npw38, a nuclear protein, and thus this protein is also called Npw38-binding protein NpwBP. The Npw38-NpwBP complex may function as a component of an mRNA factory in the nucleus. [provided by RefSeq, Jul 2008]
WBP1L	chr10	102743970	102816267	+	ENSG00000166272.16	protein_coding	C10orf26|OPA1L|OPAL1	10q24.32	WW domain binding protein 1 like	Ubiquitous expression in thyroid (RPKM 20.1), adrenal (RPKM 15.0) and 25 other tissues
WBP1LP2	chr7	107628553	107629550	+	ENSG00000250474.2	processed_pseudogene	-	7q22.3	WBP1L pseudogene 2	-
WBP1LP6	chr1	674842	675265	+	ENSG00000268663.1	processed_pseudogene	-	1p36.33	WBP1L pseudogene 6	-
WBP2	chr17	75845699	75856507	-	ENSG00000132471.11	protein_coding	DFNB107|GRAMD6|WBP-2	17q25.1	WW domain binding protein 2	The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein that is a transcriptional coactivator of estrogen receptor alpha and progesterone receptor. Defects in this gene have been associated with hearing impairment. [provided by RefSeq, Jan 2017]
WBP2NL	chr22	41998725	42058456	+	ENSG00000183066.14	protein_coding	GRAMD7|PAWP	22q13.2	WBP2 N-terminal like	WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM, Mar 2008]
WBP4	chr13	41061274	41084006	+	ENSG00000120688.8	protein_coding	FBP21	13q14.11	WW domain binding protein 4	This gene encodes WW domain-containing binding protein 4. The WW domain represents a small and compact globular structure that interacts with proline-rich ligands. This encoded protein is a general spliceosomal protein that may play a role in cross-intron bridging of U1 and U2 snRNPs in the spliceosomal complex A. [provided by RefSeq, Jul 2008]
WDCP	chr2	24029340	24049575	-	ENSG00000163026.11	protein_coding	C2orf44|MMAP|PP384	2p23.3	WD repeat and coiled coil containing	Ubiquitous expression in testis (RPKM 3.8), lymph node (RPKM 3.7) and 25 other tissues
WDFY1	chr2	223855716	223945387	-	ENSG00000085449.14	protein_coding	FENS-1|FENS1|WDF1|ZFYVE17	2q36.1	WD repeat and FYVE domain containing 1	The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstrates that this endosomal localization is mediated by the FYVE domain. [provided by RefSeq, Jan 2015]
WDFY2	chr13	51584455	51767707	+	ENSG00000139668.8	protein_coding	PROF|WDF2|ZFYVE22	13q14.3	WD repeat and FYVE domain containing 2	This gene encodes a protein that contains two WD domains and an FYVE zinc finger region. The function of this gene is unknown. An alternatively spliced transcript variant of this gene may exist. [provided by RefSeq, Jul 2008]
WDFY4	chr10	48684876	48982956	+	ENSG00000128815.19	protein_coding	C10orf64	10q11.23	WDFY family member 4	Biased expression in lymph node (RPKM 13.1), spleen (RPKM 9.3) and 10 other tissues
WDHD1	chr14	54938950	55027105	-	ENSG00000198554.11	protein_coding	AND-1|AND1|CHTF4|CTF4	14q22.2-q22.3	WD repeat and HMG-box DNA binding protein 1	The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
WDPCP	chr2	63121383	63827843	-	ENSG00000143951.15	protein_coding	BBS15|C2orf86|CHDTHP|CPLANE5|FRITZ|FRTZ	2p15	WD repeat containing planar cell polarity effector	This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
WDR1	chr4	10074339	10116949	-	ENSG00000071127.16	protein_coding	AIP1|HEL-S-52|NORI-1|PFITS	4p16.1	WD repeat domain 1	This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
WDR11	chr10	120851175	120909524	+	ENSG00000120008.15	protein_coding	BRWD2|DR11|HH14|SRI1|WDR15	10q26.12	WD repeat domain 11	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus. [provided by RefSeq, Jul 2008]
WDR12	chr2	202874782	203014798	-	ENSG00000138442.9	protein_coding	YTM1	2q33.2	WD repeat domain 12	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein is highly similar to the mouse WD repeat domain 12 protein at the amino acid level. The protein encoded by this gene is a component of a nucleolar protein complex that affects maturation of the large ribosomal subunit.[provided by RefSeq, Dec 2008]
WDR13	chrX	48590042	48608867	+	ENSG00000101940.17	protein_coding	MG21	Xp11.23	WD repeat domain 13	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. A similar protein in mouse is thought to be a negative regulator of the pancreatic beta cell proliferation. Mice lacking this gene exhibit increased pancreatic islet mass and higher serum insulin levels, and are mildly obese. [provided by RefSeq, Nov 2016]
WDR17	chr4	176065834	176182818	+	ENSG00000150627.15	protein_coding	-	4q34.2	WD repeat domain 17	Biased expression in brain (RPKM 5.2), thyroid (RPKM 2.5) and 12 other tissues
WDR18	chr19	984271	998438	+	ENSG00000065268.10	protein_coding	Ipi3|R32184_1	19p13.3	WD repeat domain 18	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]
WDR19	chr4	39182404	39285810	+	ENSG00000157796.17	protein_coding	ATD5|CED4|DYF-2|FAP66|IFT144|NPHP13|ORF26|Oseg6|PWDMP|SRTD5	4p14	WD repeat domain 19	The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 40 amino acids that are usually bracketed by glycine-histidine and tryptophan-aspartic acid (WD) dipeptides. This protein contains six WD repeats, three transmembrane domains, and a clathrin heavy-chain repeat. Mutations in this gene have been described in individuals with a wide range of disorders affecting function of the cilium. These disorders are known as ciliopathies, and include Jeune syndrome, Sensenbrenner syndromes, Senior-Loken syndrome, combined or isolated nephronophthisis (NPHP), and retinitis pigmentosa (RP). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
WDR20	chr14	102139503	102224847	+	ENSG00000140153.17	protein_coding	Bun107|DMR	14q32.31	WD repeat domain 20	This gene encodes a WD repeat-containing protein that functions to preserve and regulate the activity of the USP12-UAF1 deubiquitinating enzyme complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2011]
WDR24	chr16	684622	690444	-	ENSG00000127580.15	protein_coding	C16orf21|JFP7	16p13.3	WD repeat domain 24	Ubiquitous expression in testis (RPKM 5.5), spleen (RPKM 3.4) and 25 other tissues
WDR25	chr14	100376418	100530303	+	ENSG00000176473.13	protein_coding	C14orf67	14q32.2	WD repeat domain 25	This gene encodes a protein containing 7 WD repeats. WD repeats are approximately 30 to 40-amino acid domains containing several conserved residues, typically having a Tryptophan-Aspartic acid dipeptide (WD) at the C-terminal end. WD domains are involved in protein-protein interactions in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]
WDR26	chr1	224385143	224437033	-	ENSG00000162923.14	protein_coding	CDW2|GID7|MIP2|SKDEAS	1q42.11-q42.12	WD repeat domain 26	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
WDR27	chr6	169457212	169702048	-	ENSG00000184465.15	protein_coding	-	6q27	WD repeat domain 27	Ubiquitous expression in testis (RPKM 1.4), ovary (RPKM 1.4) and 25 other tissues
WDR3	chr1	117929720	117966542	+	ENSG00000065183.15	protein_coding	DIP2|UTP12	1p12	WD repeat domain 3	This gene encodes a nuclear protein containing 10 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, which usually include a trp-asp at the C-terminal end. Proteins belonging to the WD repeat family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]
WDR31	chr9	113313222	113340298	-	ENSG00000148225.15	protein_coding	-	9q32	WD repeat domain 31	Broad expression in testis (RPKM 3.6), thyroid (RPKM 2.8) and 24 other tissues
WDR33	chr2	127701022	127811187	-	ENSG00000136709.11	protein_coding	NET14|WDC146	2q14.3	WD repeat domain 33	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is highly expressed in testis and the protein is localized to the nucleus. This gene may play important roles in the mechanisms of cytodifferentiation and/or DNA recombination. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
WDR35	chr2	19910260	19990131	-	ENSG00000118965.14	protein_coding	CED2|FAP118|IFT121|IFTA1|SRTD7	2p24.1	WD repeat domain 35	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010]
WDR36	chr5	111091716	111130502	+	ENSG00000134987.11	protein_coding	GLC1G|TA-WDRP|TAWDRP|UTP21	5q22.1	WD repeat domain 36	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Mutations in this gene have been associated with adult-onset primary open-angle glaucoma (POAG). [provided by RefSeq, Jul 2008]
WDR37	chr10	1049538	1132297	+	ENSG00000047056.14	protein_coding	NOCGUS	10p15.3	WD repeat domain 37	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]
WDR38	chr9	124853417	124857890	+	ENSG00000136918.7	protein_coding	-	9q33.3	WD repeat domain 38	-
WDR41	chr5	77425970	77620611	-	ENSG00000164253.13	protein_coding	MSTP048	5q13.3-q14.1	WD repeat domain 41	Ubiquitous expression in thyroid (RPKM 15.6), brain (RPKM 8.1) and 25 other tissues
WDR43	chr2	28894643	28948222	+	ENSG00000163811.11	protein_coding	NET12|UTP5	2p23.2	WD repeat domain 43	Ubiquitous expression in bone marrow (RPKM 11.4), appendix (RPKM 11.1) and 25 other tissues
WDR45	chrX	49071470	49101170	-	ENSG00000196998.17	protein_coding	JM5|NBIA4|NBIA5|WDRX1|WIPI-4|WIPI4	Xp11.23	WD repeat domain 45	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [provided by RefSeq, Jul 2008]
WDR45B	chr17	82614562	82648553	-	ENSG00000141580.15	protein_coding	NEDSBAS|WDR45L|WIPI-3|WIPI3	17q25.3	WD repeat domain 45B	This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif for interaction with phospholipids. The human genome contains several pseudogenes of this gene. [provided by RefSeq, Jul 2008]
WDR46	chr6	33279108	33289527	-	ENSG00000227057.9	protein_coding	BING4|C6orf11|FP221|UTP7	6p21.32	WD repeat domain 46	Ubiquitous expression in appendix (RPKM 10.6), testis (RPKM 10.3) and 25 other tissues
WDR47	chr1	108970214	109042113	-	ENSG00000085433.15	protein_coding	-	1p13.3	WD repeat domain 47	-
WDR48	chr3	39051998	39096671	+	ENSG00000114742.13	protein_coding	Bun62|P80|SPG60|UAF1	3p22.2	WD repeat domain 48	The protein encoded by this gene has been shown to interact with ubiquitin specific peptidase 1 (USP1), activating the deubiquitinating activity of USP1 and allowing it to remove the ubiquitin moiety from monoubiquitinated FANCD2. FANCD2 is ubiquitinated in response to DNA damage. [provided by RefSeq, Sep 2016]
WDR49	chr3	167478684	167653983	-	ENSG00000174776.10	protein_coding	-	3q26.1	WD repeat domain 49	Biased expression in brain (RPKM 1.0), small intestine (RPKM 1.0) and 13 other tissues
WDR5	chr9	134135365	134159968	+	ENSG00000196363.9	protein_coding	BIG-3|BIG3|CFAP89|SWD3	9q34.2	WD repeat domain 5	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
WDR53	chr3	196554177	196568674	-	ENSG00000185798.7	protein_coding	-	3q29	WD repeat domain 53	Broad expression in testis (RPKM 24.6), lymph node (RPKM 4.3) and 23 other tissues
WDR54	chr2	74421678	74425755	+	ENSG00000005448.16	protein_coding	-	2p13.1	WD repeat domain 54	Broad expression in testis (RPKM 18.8), lung (RPKM 6.6) and 23 other tissues
WDR55	chr5	140664676	140674124	+	ENSG00000120314.18	protein_coding	-	5q31.3	WD repeat domain 55	-
WDR59	chr16	74871367	75000173	-	ENSG00000103091.14	protein_coding	CDW12|FP977|p90-120	16q23.1	WD repeat domain 59	Ubiquitous expression in skin (RPKM 11.4), thyroid (RPKM 10.4) and 25 other tissues
WDR5B	chr3	122412332	122416051	-	ENSG00000196981.3	protein_coding	-	3q21.1	WD repeat domain 5B	-
WDR6	chr3	49007062	49015953	+	ENSG00000178252.17	protein_coding	-	3p21.31	WD repeat domain 6	Ubiquitous expression in ovary (RPKM 54.4), endometrium (RPKM 45.4) and 25 other tissues
WDR61	chr15	78277835	78299794	-	ENSG00000140395.8	protein_coding	REC14|SKI8	15q25.1	WD repeat domain 61	WDR61 is a subunit of the human PAF and SKI complexes, which function in transcriptional regulation and are involved in events downstream of RNA synthesis, such as RNA surveillance (Zhu et al., 2005 [PubMed 16024656]).[supplied by OMIM, Mar 2008]
WDR62	chr19	36054881	36105106	+	ENSG00000075702.16	protein_coding	C19orf14|MCPH2	19q13.12	WD repeat domain 62	This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]
WDR64	chr1	241652278	241802133	+	ENSG00000162843.17	protein_coding	-	1q43	WD repeat domain 64	-
WDR7	chr18	56651343	57036606	+	ENSG00000091157.13	protein_coding	TRAG	18q21.31	WD repeat domain 7	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) that may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein forms the beta subunit of rabconnectin-3 and binds directly with Rab3A GDP/GTP exchange protein and indirectly with Rab3A GDP/GTP activating protein; these proteins are regulators of Rab3 small G protein family members involved in control of the calcium-dependant exocytosis of neurotransmitters. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
WDR70	chr5	37379212	37753435	+	ENSG00000082068.8	protein_coding	-	5p13.2	WD repeat domain 70	-
WDR72	chr15	53513741	53762878	-	ENSG00000166415.14	protein_coding	AI2A3	15q21.3	WD repeat domain 72	This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
WDR73	chr15	84639281	84654343	-	ENSG00000177082.12	protein_coding	GAMOS|GAMOS1|HSPC264	15q25.2	WD repeat domain 73	The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
WDR74	chr11	62832342	62841809	-	ENSG00000133316.15	protein_coding	Nsa1	11q12.3	WD repeat domain 74	Ubiquitous expression in bone marrow (RPKM 9.1), ovary (RPKM 4.9) and 25 other tissues
WDR75	chr2	189441433	189475565	+	ENSG00000115368.9	protein_coding	NET16|UTP17	2q32.2	WD repeat domain 75	Ubiquitous expression in lymph node (RPKM 14.9), endometrium (RPKM 14.7) and 25 other tissues
WDR76	chr15	43826963	43868419	+	ENSG00000092470.11	protein_coding	CDW14	15q15.3	WD repeat domain 76	Enables enzyme binding activity. Involved in cellular response to DNA damage stimulus. Located in heterochromatin; nucleus; and site of DNA damage. [provided by Alliance of Genome Resources, Apr 2022]
WDR77	chr1	111439890	111449376	-	ENSG00000116455.13	protein_coding	HKMT1069|MEP-50|MEP50|Nbla10071|p44|p44/Mep50	1p13.2	WD repeat domain 77	The protein encoded by this gene is an androgen receptor coactivator that forms a complex with protein arginine methyltransferase 5, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins. The encoded protein may be involved in the early stages of prostate cancer, with most of the protein being nuclear-localized in benign cells but cytoplasmic in cancer cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
WDR81	chr17	1716523	1738599	+	ENSG00000167716.18	protein_coding	CAMRQ2|HYC3|PPP1R166|SORF-2	17p13.3	WD repeat domain 81	This gene encodes a multi-domain transmembrane protein which is predominantly expressed in the brain and is thought to play a role in endolysosomal trafficking. Mutations in this gene are associated with an autosomal recessive form of a syndrome exhibiting cerebellar ataxia, cognitive disability, and disequilibrium (CAMRQ2). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
WDR82	chr3	52254421	52288020	-	ENSG00000164091.11	protein_coding	MST107|MSTP107|PRO2730|PRO34047|SWD2|TMEM113|WDR82A	3p21.2	WD repeat domain 82	TMEM113 (WDR82) is a component of the mammalian SET1A (MIM 611052)/SET1B (MIM 611055) histone H3-Lys4 methyltransferase complexes (Lee and Skalnik, 2005 [PubMed 16253997]; Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Jul 2010]
WDR83	chr19	12666800	12675832	+	ENSG00000123154.11	protein_coding	MORG1	19p13.13	WD repeat domain 83	This gene encodes a member of the WD-40 protein family. The protein is proposed to function as a molecular scaffold for various multimeric protein complexes. The protein associates with several components of the extracellular signal-regulated kinase (ERK) pathway, and promotes ERK activity in response to serum or other signals. The protein also interacts with egl nine homolog 3 (EGLN3, also known as PHD3) and regulates expression of hypoxia-inducible factor 1, and has been purified as part of the spliceosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
WDR83OS	chr19	12668071	12671356	-	ENSG00000105583.9	protein_coding	ASTERIX|C19orf56|PAT-10|PAT10|PTD008	19p13.13	WD repeat domain 83 opposite strand	Ubiquitous expression in ovary (RPKM 32.4), thyroid (RPKM 28.3) and 25 other tissues
WDR86	chr7	151375909	151410727	-	ENSG00000187260.15	protein_coding	-	7q36.1	WD repeat domain 86	-
WDR88	chr19	33132090	33175795	+	ENSG00000166359.10	protein_coding	PQWD	19q13.11	WD repeat domain 88	Broad expression in testis (RPKM 2.4), thyroid (RPKM 0.5) and 23 other tissues
WDR89	chr14	63597039	63641861	-	ENSG00000140006.11	protein_coding	C14orf150|MSTP050	14q23.2	WD repeat domain 89	Ubiquitous expression in lymph node (RPKM 4.5), thyroid (RPKM 4.4) and 25 other tissues
WDR90	chr16	649311	667833	+	ENSG00000161996.18	protein_coding	C16orf15|C16orf16|C16orf17|C16orf18|C16orf19|POC16	16p13.3	WD repeat domain 90	Broad expression in testis (RPKM 12.0), bone marrow (RPKM 4.3) and 23 other tissues
WDR91	chr7	135183839	135211534	-	ENSG00000105875.13	protein_coding	HSPC049|SORF-1|SORF1	7q33	WD repeat domain 91	Ubiquitous expression in kidney (RPKM 8.1), placenta (RPKM 7.8) and 25 other tissues
WDR93	chr15	89690797	89743638	+	ENSG00000140527.14	protein_coding	C1d-87|CFAP297|FAP297	15q26.1	WD repeat domain 93	Biased expression in testis (RPKM 3.2), prostate (RPKM 0.4) and 3 other tissues
WDR97	chr8	144107726	144118315	+	ENSG00000179698.13	protein_coding	KIAA1875	8q24.3	WD repeat domain 97	The function and protein-coding potential of this gene is unknown. The exon combination is based on AB058778.1 for which two possible open reading frames can be predicted (with start codons at nucleotide 26 or 2614). The position of the first ORF stop codon is consistent with a prediction of nonsense-mediated decay. Given the observation of the first ORF and its length, a predicted translation of the second ORF is inconsistent with the translation leaky scanning theory. Therefore, this gene is represented as a non-protein-coding transcript. [provided by RefSeq, Oct 2008]
WDSUB1	chr2	159235793	159286799	-	ENSG00000196151.10	protein_coding	UBOX6|WDSAM1	2q24.2	WD repeat, sterile alpha motif and U-box domain containing 1	Ubiquitous expression in thyroid (RPKM 5.8), kidney (RPKM 5.0) and 25 other tissues
WDTC1	chr1	27234516	27308633	+	ENSG00000142784.15	protein_coding	ADP|DCAF9	1p36.11	WD and tetratricopeptide repeats 1	Ubiquitous expression in testis (RPKM 28.2), heart (RPKM 14.1) and 25 other tissues
WEE1	chr11	9573681	9593457	+	ENSG00000166483.10	protein_coding	WEE1A|WEE1hu	11p15.4	WEE1 G2 checkpoint kinase	This gene encodes a nuclear protein, which is a tyrosine kinase belonging to the Ser/Thr family of protein kinases. This protein catalyzes the inhibitory tyrosine phosphorylation of CDC2/cyclin B kinase, and appears to coordinate the transition between DNA replication and mitosis by protecting the nucleus from cytoplasmically activated CDC2 kinase. [provided by RefSeq, Jul 2008]
WEE2-AS1	chr7	141704338	141738346	-	ENSG00000228775.7	antisense	-	7q34	WEE2 antisense RNA 1	-
WFDC13	chr20	45702016	45708817	+	ENSG00000168634.4	protein_coding	C20orf138|WAP13|dJ601O1.3	20q13.12	WAP four-disulfide core domain 13	This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. [provided by RefSeq, Jul 2008]
WFDC2	chr20	45469706	45481532	+	ENSG00000101443.17	protein_coding	EDDM4|HE4|WAP5|dJ461P17.6	20q13.12	WAP four-disulfide core domain 2	This gene encodes a protein that is a member of the WFDC domain family. The WFDC domain, or WAP Signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is expressed in pulmonary epithelial cells, and was also found to be expressed in some ovarian cancers. The encoded protein is a small secretory protein, which may be involved in sperm maturation. [provided by RefSeq, Jul 2008]
WFDC21P	chr17	60083566	60091885	-	ENSG00000261040.6	processed_transcript	LNCDC|linc-DC|lnc-DC	17q23.1	WAP four-disulfide core domain 21, pseudogene	Predicted to enable enzyme activator activity. Predicted to act upstream of or within response to lipopolysaccharide; response to tumor necrosis factor; and white fat cell differentiation. Predicted to be located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
WFDC3	chr20	45747944	45791932	-	ENSG00000124116.18	protein_coding	WAP14|dJ447F3.3	20q13.12	WAP four-disulfide core domain 3	This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains four WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Alternatively spliced transcript variants have been observed but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
WFDC5	chr20	45109452	45115172	-	ENSG00000175121.11	protein_coding	PRG5|WAP1|dJ211D12.5	20q13.12	WAP four-disulfide core domain 5	This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. Most WFDC proteins contain only one WFDC domain, and this encoded protein contains two WFDC domains. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. [provided by RefSeq, Jul 2008]
WFDC8	chr20	45551153	45579326	-	ENSG00000158901.11	protein_coding	C20orf170|HEL-S-292|WAP8|dJ461P17.1	20q13.12	WAP four-disulfide core domain 8	This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor. The encoded protein contains a Kunitz-inhibitor domain, in addition to three WFDC domains. Most WFDC genes are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the telomeric cluster. Two alternatively spliced transcript variants have been found for this gene, and they encode the same protein. [provided by RefSeq, Jul 2008]
WFIKKN1	chr16	629239	634116	+	ENSG00000127578.6	protein_coding	C16orf12|RJD2|WFDC20A|WFIKKN	16p13.3	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	This gene encodes a secreted multidomain protein consisting of a signal peptide, a WAP domain, a follistatin domain, an immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. These domains have been implicated frequently in inhibition of various types of proteases, suggesting that the encoded protein may be a multivalent protease inhibitor and may control the action of multiple types of serine proteases as well as metalloproteinases. [provided by RefSeq, Jul 2008]
WFIKKN2	chr17	50834650	50842348	+	ENSG00000173714.7	protein_coding	GASP-1|WFDC20B|WFIKKNRP|hGASP-1	17q21.33	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	The WFIKKN1 protein contains a WAP domain, follistatin domain, immunoglobulin domain, two tandem Kunitz domains, and an NTR domain. This gene encodes a WFIKKN1-related protein which has the same domain organization as the WFIKKN1 protein. The WAP-type, follistatin type, Kunitz-type, and NTR-type protease inhibitory domains may control the action of multiple types of proteases. [provided by RefSeq, Jul 2008]
WFS1	chr4	6269849	6303265	+	ENSG00000109501.13	protein_coding	CTRCT41|WFRS|WFS|WFSL	4p16.1	wolframin ER transmembrane glycoprotein	This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
WHAMM	chr15	82809628	82836108	+	ENSG00000156232.7	protein_coding	WHAMM1|WHDC1	15q25.2	WASP homolog associated with actin, golgi membranes and microtubules	This gene encodes a protein that plays a role in actin nucleation, Golgi membrane association and microtubule binding. The encoded protein is a nucleation-promoting factor that regulates the Actin-related protein 2/3 complex. The activated complex initiates growth of new actin filaments by binding to existing actin filaments. The encoded protein also functions in regulation of transport from the endoplasmic reticulum to the Golgi complex and in maintenance of the Golgi complex near the centrosome. Four pseudogenes of this gene are present on the same arm of chromosome 15 as this gene. [provided by RefSeq, Aug 2013]
WHRN	chr9	114402080	114505450	-	ENSG00000095397.13	protein_coding	CIP98|DFNB31|PDZD7B|USH2D|WI	9q32	whirlin	This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
WI2-1896O14.1	chr1	149197992	149321732	-	ENSG00000215861.5	unprocessed_pseudogene	-	-	-	-
WI2-1959D15.3	chr9	136263925	136267237	+	ENSG00000283769.1	antisense	-	-	-	-
WI2-89927D4.1	chr4	2607870	2608146	-	ENSG00000248155.1	unprocessed_pseudogene	-	-	-	-
WIF1	chr12	65050626	65121566	-	ENSG00000156076.9	protein_coding	WIF-1	12q14.3	WNT inhibitory factor 1	The protein encoded by this gene functions to inhibit WNT proteins, which are extracellular signaling molecules that play a role in embryonic development. This protein contains a WNT inhibitory factor (WIF) domain and five epidermal growth factor (EGF)-like domains, and is thought to be involved in mesoderm segmentation. This gene functions as a tumor suppressor gene, and has been found to be epigenetically silenced in various cancers. [provided by RefSeq, Jun 2010]
WIPF1	chr2	174559572	174682916	-	ENSG00000115935.17	protein_coding	PRPL-2|WAS2|WASPIP|WIP	2q31.1	WAS/WASL interacting protein family member 1	This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
WIPF2	chr17	40219304	40284136	+	ENSG00000171475.13	protein_coding	WICH|WIRE	17q21.2	WAS/WASL interacting protein family member 2	This gene encodes a WASP interacting protein (WIP)-related protein. It has been shown that this protein has a role in the WASP-mediated organization of the actin cytoskeleton and that this protein is a potential link between the activated platelet-derived growth factor receptor and the actin polymerization machinery. [provided by RefSeq, Jul 2008]
WIPI1	chr17	68420948	68457513	-	ENSG00000070540.12	protein_coding	ATG18|ATG18A|WIPI49	17q24.2	WD repeat domain, phosphoinositide interacting 1	This gene encodes a WD40 repeat protein. Members of the WD40 repeat family are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
WIPI2	chr7	5190188	5233826	+	ENSG00000157954.14	protein_coding	ATG18B|Atg21|CGI-50|IDDSSA|WIPI-2	7p22.1	WD repeat domain, phosphoinositide interacting 2	WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI2, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008]
WLS	chr1	68098473	68233120	-	ENSG00000116729.13	protein_coding	C1orf139|EVI|GPR177|MRP|mig-14	1p31.3	Wnt ligand secretion mediator	Ubiquitous expression in kidney (RPKM 32.7), gall bladder (RPKM 31.7) and 24 other tissues
WNK1	chr12	752593	911452	+	ENSG00000060237.16	protein_coding	HSAN2|HSN2|KDP|PPP1R167|PRKWNK1|PSK|p65	12p13.33	WNK lysine deficient protein kinase 1	This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]
WNK2	chr9	93184916	93320572	+	ENSG00000165238.16	protein_coding	NY-CO-43|P/OKcl.13|PRKWNK2|SDCCAG43	9q22.31	WNK lysine deficient protein kinase 2	The protein encoded by this gene is a cytoplasmic serine-threonine kinase that belongs to the protein kinase superfamily. The protein plays an important role in the regulation of electrolyte homeostasis, cell signaling survival, and proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
WNK4	chr17	42780678	42796936	+	ENSG00000126562.16	protein_coding	PHA2B|PRKWNK4	17q21.2	WNK lysine deficient protein kinase 4	This gene encodes a member of the WNK family of serine-threonine protein kinases. The kinase is part of the tight junction complex in kidney cells, and regulates the balance between NaCl reabsorption and K(+) secretion. The kinase regulates the activities of several types of ion channels, cotransporters, and exchangers involved in electrolyte flux in epithelial cells. Mutations in this gene result in pseudohypoaldosteronism type IIB.[provided by RefSeq, Sep 2009]
WNT1	chr12	48978453	48981676	+	ENSG00000125084.11	protein_coding	BMND16|INT1|OI15	12q13.12	Wnt family member 1	The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is very conserved in evolution, and the protein encoded by this gene is known to be 98% identical to the mouse Wnt1 protein at the amino acid level. The studies in mouse indicate that the Wnt1 protein functions in the induction of the mesencephalon and cerebellum. This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature. However,  further studies suggested that the gene mutations might not have a significant role in Joubert syndrome. This gene is clustered with another family member, WNT10B, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]
WNT10A	chr2	218880363	218899581	+	ENSG00000135925.8	protein_coding	OODD|SSPS|STHAG4	2q35	Wnt family member 10A	The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is strongly expressed in the cell lines of promyelocytic leukemia and Burkitts lymphoma. In addition, it and another family member, the WNT6 gene, are strongly coexpressed in colorectal cancer cell lines. The gene overexpression may play key roles in carcinogenesis through activation of the WNT-beta-catenin-TCF signaling pathway. This gene and the WNT6 gene are clustered in the chromosome 2q35 region. [provided by RefSeq, Jul 2008]
WNT10B	chr12	48965340	48971763	-	ENSG00000169884.13	protein_coding	SHFM6|STHAG8|WNT-12	12q13.12	Wnt family member 10B	The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It may be involved in breast cancer, and its protein signaling is likely a molecular switch that governs adipogenesis. This protein is 96% identical to the mouse Wnt10b protein at the amino acid level. This gene is clustered with another family member, WNT1, in the chromosome 12q13 region. [provided by RefSeq, Jul 2008]
WNT11	chr11	76186325	76210736	-	ENSG00000085741.12	protein_coding	HWNT11	11q13.5	Wnt family member 11	The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 97%, 85%, and 63% amino acid identity with mouse, chicken, and Xenopus Wnt11 protein, respectively. This gene may play roles in the development of skeleton, kidney and lung, and is considered to be a plausible candidate gene for High Bone Mass Syndrome. [provided by RefSeq, Jul 2008]
WNT16	chr7	121325367	121341104	+	ENSG00000002745.12	protein_coding	-	7q31.31	Wnt family member 16	Biased expression in skin (RPKM 9.9) and lymph node (RPKM 0.5)
WNT2	chr7	117276631	117323289	-	ENSG00000105989.8	protein_coding	INT1L1|IRP	7q31.2	Wnt family member 2	This gene is a member of the WNT gene family. The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
WNT2B	chr1	112466541	112530165	+	ENSG00000134245.17	protein_coding	WNT13	1p13.2	Wnt family member 2B	This gene encodes a member of the wingless-type MMTV integration site (WNT) family of highly conserved, secreted signaling factors. WNT family members function in a variety of developmental processes including regulation of cell growth and differentiation and are characterized by a WNT-core domain. This gene may play a role in human development as well as carcinogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
WNT3	chr17	46762506	46833154	-	ENSG00000108379.9	protein_coding	INT4|TETAMS	17q21.31-q21.32	Wnt family member 3	The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 98% amino acid identity to mouse Wnt3 protein, and 84% to human WNT3A protein, another WNT gene product. The mouse studies show the requirement of Wnt3 in primary axis formation in the mouse. Studies of the gene expression suggest that this gene may play a key role in some cases of human breast, rectal, lung, and gastric cancer through activation of the WNT-beta-catenin-TCF signaling pathway. This gene is clustered with WNT15, another family member, in the chromosome 17q21 region. [provided by RefSeq, Jul 2008]
WNT3A	chr1	228007051	228061260	+	ENSG00000154342.5	protein_coding	-	1q42.13	Wnt family member 3A	Biased expression in placenta (RPKM 9.0), lung (RPKM 1.6) and 1 other tissue
WNT4	chr1	22117305	22143969	-	ENSG00000162552.14	protein_coding	SERKAL|WNT-4	1p36.12	Wnt family member 4	The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and is the first signaling molecule shown to influence the sex-determination cascade. It encodes a protein which shows 98% amino acid identity to the Wnt4 protein of mouse and rat. This gene and a nuclear receptor known to antagonize the testis-determining factor play a concerted role in both the control of female development and the prevention of testes formation. This gene and another two family members, WNT2 and WNT7B, may be associated with abnormal proliferation in breast tissue. Mutations in this gene can result in Rokitansky-Kuster-Hauser syndrome and in SERKAL syndrome. [provided by RefSeq, Jul 2008]
WNT5A	chr3	55465715	55490539	-	ENSG00000114251.14	protein_coding	hWNT5A	3p14.3	Wnt family member 5A	The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene encodes a member of the WNT family that signals through both the canonical and non-canonical WNT pathways. This protein is a ligand for the seven transmembrane receptor frizzled-5 and the tyrosine kinase orphan receptor 2. This protein plays an essential role in regulating developmental pathways during embryogenesis. This protein may also play a role in oncogenesis. Mutations in this gene are the cause of autosomal dominant Robinow syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
WNT5B	chr12	1529891	1647243	+	ENSG00000111186.12	protein_coding	-	12p13.33	Wnt family member 5B	Broad expression in prostate (RPKM 12.1), esophagus (RPKM 5.6) and 21 other tissues
WNT6	chr2	218859821	218874233	+	ENSG00000115596.3	protein_coding	-	2q35	Wnt family member 6	Biased expression in placenta (RPKM 1.4), prostate (RPKM 1.1) and 13 other tissues
WNT7A	chr3	13816258	13880121	-	ENSG00000154764.5	protein_coding	Wnt-7a	3p25.1	Wnt family member 7A	This gene is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is involved in the development of the anterior-posterior axis in the female reproductive tract, and also plays a critical role in uterine smooth muscle pattering and maintenance of adult uterine function. Mutations in this gene are associated with Fuhrmann and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromes. [provided by RefSeq, Jul 2008]
WNT7B	chr22	45920362	45977129	-	ENSG00000188064.9	protein_coding	-	22q13.31	Wnt family member 7B	Biased expression in skin (RPKM 7.3), urinary bladder (RPKM 3.8) and 6 other tissues
WNT8B	chr10	100463041	100483744	+	ENSG00000075290.7	protein_coding	-	10q24.31	Wnt family member 8B	Low expression observed in reference dataset
WNT9A	chr1	227918656	227947898	-	ENSG00000143816.7	protein_coding	WNT14	1q42.13	Wnt family member 9A	The WNT gene family consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It is expressed in gastric cancer cell lines. The protein encoded by this gene shows 75% amino acid identity to chicken Wnt14, which has been shown to play a central role in initiating synovial joint formation in the chick limb. This gene is clustered with another family member, WNT3A, in the chromosome 1q42 region. [provided by RefSeq, Jul 2008]
WNT9B	chr17	46833201	46886730	+	ENSG00000158955.10	protein_coding	WNT14B|WNT15	17q21.32	Wnt family member 9B	The WNT gene family consists of structurally related genes that encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. Study of its expression in the teratocarcinoma cell line NT2 suggests that it may be implicated in the early process of neuronal differentiation of NT2 cells induced by retinoic acid. This gene is clustered with WNT3, another family member, in the chromosome 17q21 region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
WRAP53	chr17	7686071	7703502	+	ENSG00000141499.16	protein_coding	DKCB3|TCAB1|WDR79	17p13.1	WD repeat containing antisense to TP53	This gene encodes an essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex required for telomere synthesis. This protein is enriched in Cajal bodies, nuclear sites of RNP processing that are important for telomerase function. It interacts with dyskerin, TERT and TERC, other components of active telomerase, and with small Cajal body RNAs (scaRNAs), which are involved in modifying splicing RNAs. This mRNA also functions as a p53 antisense transcript, that regulates endogenous p53 mRNA levels and further induction of p53 protein by targeting the 5 untranslated region of p53 mRNA. Alternatively spliced transcript variants which differ only in the 5 UTR have been found for this gene. [provided by RefSeq, Mar 2011]
WRAP73	chr1	3630767	3652761	-	ENSG00000116213.15	protein_coding	WDR8	1p36.32	WD repeat containing, antisense to TP73	This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Studies of the related mouse protein suggest that the encoded protein may play a role in the process of ossification. [provided by RefSeq, Mar 2009]
WRN	chr8	31033801	31173769	+	ENSG00000165392.9	protein_coding	RECQ3|RECQL2|RECQL3	8p12	WRN RecQ like helicase	This gene encodes a member of the RecQ subfamily of DNA helicase proteins. The encoded nuclear protein is important in the maintenance of genome stability and plays a role in DNA repair, replication, transcription and telomere maintenance. This protein contains a N-terminal 3 to 5 exonuclease domain, an ATP-dependent helicase domain and RQC (RecQ helicase conserved region) domain in its central region, and a C-terminal HRDC (helicase RNase D C-terminal) domain and nuclear localization signal. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by accelerated aging and an elevated risk for certain cancers. [provided by RefSeq, Aug 2017]
WSB1	chr17	27294076	27315926	+	ENSG00000109046.14	protein_coding	SWIP1|WSB-1	17q11.1	WD repeat and SOCS box containing 1	This gene encodes a member of the WD-protein subfamily. This protein shares a high sequence identity to mouse and chick proteins. It contains several WD-repeats spanning most of the protein and an SOCS box in the C-terminus. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
WSB2	chr12	118032694	118062430	-	ENSG00000176871.8	protein_coding	SBA2	12q24.23	WD repeat and SOCS box containing 2	This gene encodes a member of the WD-protein subfamily. The encoded protein contains five WD-repeats spanning most of the protein and an SOCS box in the C-terminus. The SOCS box may act as a bridge between specific substrate-binding domains and E3 ubiquitin protein ligases. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
WSCD1	chr17	5772234	6124427	+	ENSG00000179314.13	protein_coding	-	17p13.2	WSC domain containing 1	-
WSCD2	chr12	108129471	108250537	+	ENSG00000075035.9	protein_coding	-	12q23.3	WSC domain containing 2	-
WT1	chr11	32387775	32435630	-	ENSG00000184937.13	protein_coding	AWT1|GUD|NPHS4|WAGR|WIT-2|WT-1|WT33	11p13	WT1 transcription factor	This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilms tumor. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation codon upstream of, and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq, Mar 2015]
WT1-AS	chr11	32435518	32458769	+	ENSG00000183242.11	antisense	WIT-1|WIT1|WT1-AS1|WT1AS	11p13	WT1 antisense RNA	This gene is located upstream of the Wilms tumor 1 (WT1) gene; these two genes are bi-directionally transcribed from the same promoter region. This gene is imprinted in kidney, with preferential expression from the paternal allele. Imprinting defects at chromosome 11p13 may contribute to tumorigenesis. [provided by RefSeq, May 2014]
WTAP	chr6	159725585	159756319	+	ENSG00000146457.14	protein_coding	Mum2	6q25.3	WT1 associated protein	The Wilms tumor suppressor gene WT1 appears to play a role in both transcriptional and posttranscriptional regulation of certain cellular genes. This gene encodes a WT1-associating protein, which is a ubiquitously expressed nuclear protein. Like WT1 protein, this protein is localized throughout the nucleoplasm as well as in speckles and partially colocalizes with splicing factors. Alternative splicing of this gene results in several transcript variants encoding three different isoforms. [provided by RefSeq, Jul 2012]
WTIP	chr19	34481638	34512304	+	ENSG00000142279.12	protein_coding	-	19q13.11	WT1 interacting protein	-
WWC1	chr5	168291651	168472303	+	ENSG00000113645.14	protein_coding	HBEBP3|HBEBP36|KIBRA|MEMRYQTL|PPP1R168	5q34	WW and C2 domain containing 1	The protein encoded by this gene is a cytoplasmic phosphoprotein that interacts with PRKC-zeta and dynein light chain-1. Alleles of this gene have been found that enhance memory in some individuals. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
WWC2	chr4	183099293	183320777	+	ENSG00000151718.15	protein_coding	BOMB	4q35.1	WW and C2 domain containing 2	This gene encodes a member of the WW-and-C2-domain-containing family of proteins. Members of this family have two N-terminal WW domains that mediate binding to target proteins harboring L/PPxY motifs, an internal C2 domain for membrane association, and C-terminal alpha protein kinase C binding sites and class III PDZ domain-interaction motifs. Proteins of this family are able to form homo- and heterodimers and to modulate hippo pathway signaling. [provided by RefSeq, Sep 2016]
WWC2-AS2	chr4	183097017	183099199	-	ENSG00000251359.4	lincRNA	C4orf38	4q35.1	WWC2 antisense RNA 2	-
WWOX	chr16	78099413	79212667	+	ENSG00000186153.16	protein_coding	D16S432E|DEE28|EIEE28|FOR|FRA16D|HHCMA56|PRO0128|SCAR12|SDR41C1|WOX1	16q23.1-q23.2	WW domain containing oxidoreductase	This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
WWP1	chr8	86342738	86478420	+	ENSG00000123124.13	protein_coding	AIP5|Tiul1|hSDRP1	8q21.3	WW domain containing E3 ubiquitin protein ligase 1	WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. [provided by RefSeq, Jul 2008]
WWP1P1	chr3	98657802	98660570	+	ENSG00000244153.1	processed_pseudogene	-	3q12.1	WW domain containing E3 ubiquitin protein ligase 1 pseudogene 1	-
WWP2	chr16	69762306	69941741	+	ENSG00000198373.12	protein_coding	AIP2|WWp2-like	16q22.1	WW domain containing E3 ubiquitin protein ligase 2	This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 10. [provided by RefSeq, Jul 2012]
WWTR1-AS1	chr3	149657020	149661364	+	ENSG00000241313.2	antisense	-	3q25.1	WWTR1 antisense RNA 1	-
XAB2	chr19	7619525	7629565	-	ENSG00000076924.11	protein_coding	HCNP|HCRN|NTC90|SYF1	19p13.2	XPA binding protein 2	Ubiquitous expression in testis (RPKM 21.5), ovary (RPKM 19.8) and 25 other tissues
XAF1	chr17	6755447	6775647	+	ENSG00000132530.16	protein_coding	BIRC4BP|HSXIAPAF1|XIAPAF1	17p13.1	XIAP associated factor 1	This gene encodes a protein which binds to and counteracts the inhibitory effect of a member of the IAP (inhibitor of apoptosis) protein family. IAP proteins bind to and inhibit caspases which are activated during apoptosis. The proportion of IAPs and proteins which interfere with their activity, such as the encoded protein, affect the progress of the apoptosis signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
XBP1	chr22	28794555	28800597	-	ENSG00000100219.16	protein_coding	TREB-5|TREB5|XBP-1|XBP2	22q12.1|22q12	X-box binding protein 1	This gene encodes a transcription factor that regulates MHC class II genes by binding to a promoter element referred to as an X box. This gene product is a bZIP protein, which was also identified as a cellular transcription factor that binds to an enhancer in the promoter of the T cell leukemia virus type 1 promoter. It may increase expression of viral proteins by acting as the DNA binding partner of a viral transactivator. It has been found that upon accumulation of unfolded proteins in the endoplasmic reticulum (ER), the mRNA of this gene is processed to an active form by an unconventional splicing mechanism that is mediated by the endonuclease inositol-requiring enzyme 1 (IRE1). The resulting loss of 26 nt from the spliced mRNA causes a frame-shift and an isoform XBP1(S), which is the functionally active transcription factor. The isoform encoded by the unspliced mRNA, XBP1(U), is constitutively expressed, and thought to function as a negative feedback regulator of XBP1(S), which shuts off transcription of target genes during the recovery phase of ER stress. A pseudogene of XBP1 has been identified and localized to chromosome 5. [provided by RefSeq, Jul 2008]
XBP1P1	chr5	112885094	112885745	+	ENSG00000249947.2	processed_pseudogene	XBP|XBP1|XBPP1	5q22.2	X-box binding protein 1 pseudogene 1	-
XCL1	chr1	168576473	168582077	+	ENSG00000143184.4	protein_coding	ATAC|LPTN|LTN|SCM-1|SCM-1a|SCM1|SCM1A|SCYC1	1q24.2	X-C motif chemokine ligand 1	This antimicrobial gene encodes a member of the chemokine superfamily. Chemokines function in inflammatory and immunological responses, inducing leukocyte migration and activation. The encoded protein is a member of the C-chemokine subfamily, retaining only two of four cysteines conserved in other chemokines, and is thought to be specifically chemotactic for T cells. This gene and a closely related family member are located on the long arm of chromosome 1. [provided by RefSeq, Sep 2014]
XCL2	chr1	168540765	168543997	-	ENSG00000143185.3	protein_coding	SCM-1b|SCM1B|SCYC2	1q24.2	X-C motif chemokine ligand 2	Predicted to enable CCR chemokine receptor binding activity and chemokine activity. Predicted to be involved in several processes, including cellular response to cytokine stimulus; leukocyte chemotaxis; and positive regulation of T cell chemotaxis. Predicted to be located in extracellular region. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
XCR1	chr3	46017024	46027742	-	ENSG00000173578.7	protein_coding	CCXCR1|GPR5	3p21.31	X-C motif chemokine receptor 1	The protein encoded by this gene is a chemokine receptor belonging to the G protein-coupled receptor superfamily. The family members are characterized by the presence of 7 transmembrane domains and numerous conserved amino acids. This receptor is most closely related to RBS11 and the MIP1-alpha/RANTES receptor. It transduces a signal by increasing the intracellular calcium ions level. The viral macrophage inflammatory protein-II is an antagonist of this receptor and blocks signaling. Several alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2020]
XIAPP3	chr2	112853328	112854122	+	ENSG00000180152.3	processed_pseudogene	-	2q14.1	X-linked inhibitor of apoptosis pseudogene 3	-
XIRP1	chr3	39183210	39192596	-	ENSG00000168334.8	protein_coding	CMYA1|Xin	3p22.2	xin actin binding repeat containing 1	The protein encoded by this gene is a striated muscle protein and belongs to the Xin actin-binding repeat-containing protein (XIRP) family. The protein functions to protect actin filaments during depolymerization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]
XIST	chrX	73820651	73852753	-	ENSG00000229807.10	lincRNA	DXS1089|DXS399E|LINC00001|NCRNA00001|SXI1|swd66	Xq13.2	X inactive specific transcript	X inactivation is an early developmental process in mammalian females that transcriptionally silences one of the pair of X chromosomes, thus providing dosage equivalence between males and females. The process is regulated by several factors, including a region of chromosome X called the X inactivation center (XIC). The XIC comprises several non-coding and protein-coding genes, and this gene was the first non-coding gene identified within the XIC. This gene is expressed exclusively from the XIC of the inactive X chromosome, and is essential for the initiation and spread of X-inactivation. The transcript is a spliced RNA. Alternatively spliced transcript variants have been identified, but their full length sequences have not been determined. Mutations in the XIST promoter cause familial skewed X inactivation. [provided by RefSeq, Apr 2012]
XK	chrX	37685759	37732130	+	ENSG00000047597.5	protein_coding	KX|NA|NAC|X1k|XKR1	Xp21.1	X-linked Kx blood group	This locus controls the synthesis of the Kell blood group precursor substance (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008]
XKR6	chr8	10896045	11201366	-	ENSG00000171044.10	protein_coding	C8orf21|C8orf5|C8orf7|XRG6	8p23.1	XK related 6	Broad expression in thyroid (RPKM 1.5), lymph node (RPKM 1.4) and 23 other tissues
XKR7	chr20	31968002	32003387	+	ENSG00000260903.2	protein_coding	C20orf159|dJ310O13.4	20q11.21	XK related 7	Low expression observed in reference dataset
XKR8	chr1	27959462	27968096	+	ENSG00000158156.7	protein_coding	XRG8|hXkr8	1p35.3	XK related 8	Ubiquitous expression in placenta (RPKM 5.8), bone marrow (RPKM 5.1) and 25 other tissues
XKR9	chr8	70669365	70790371	+	ENSG00000221947.7	protein_coding	XRG9	8q13.3	XK related 9	Broad expression in testis (RPKM 1.6), small intestine (RPKM 1.1) and 14 other tissues
XPA	chr9	97674909	97697357	-	ENSG00000136936.10	protein_coding	XP1|XPAC	9q22.33	XPA, DNA damage recognition and repair factor	This gene encodes a zinc finger protein plays a central role in nucleotide excision repair (NER), a specialized type of DNA repair. NER is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens and chemotherapeutic drugs. The encoded protein interacts with DNA and several NER proteins, acting as a scaffold to assemble the NER incision complex at sites of DNA damage. Mutations in this gene cause Xeroderma pigmentosum complementation group A (XP-A), an autosomal recessive skin disorder featuring hypersensitivity to sunlight and increased risk for skin cancer. [provided by RefSeq, Aug 2017]
XPC	chr3	14145147	14178783	-	ENSG00000154767.14	protein_coding	RAD4|XP3|XPCC|p125	3p25.1	XPC complex subunit, DNA damage recognition and repair factor	The protein encoded by this gene is a key component of the XPC complex, which plays an important role in the early steps of global genome nucleotide excision repair (NER). The encoded protein is important for damage sensing and DNA binding, and shows a preference for single-stranded DNA. Mutations in this gene or some other NER components can result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]
XPNPEP1	chr10	109864766	109923553	-	ENSG00000108039.17	protein_coding	APP1|SAMP|XPNPEP|XPNPEPL|XPNPEPL1	10q25.1	X-prolyl aminopeptidase 1	This gene encodes the cytosolic form of a metalloaminopeptidase that catalyzes the cleavage of the N-terminal amino acid adjacent to a proline residue. The gene product may play a role in degradation and maturation of tachykinins, neuropeptides, and peptide hormones. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Nov 2009]
XPNPEP3	chr22	40857077	40932815	+	ENSG00000196236.12	protein_coding	APP3|ICP55|NPHPL1	22q13.2	X-prolyl aminopeptidase 3	The protein encoded by this gene belongs to the family of X-pro-aminopeptidases that utilize a metal cofactor, and remove the N-terminal amino acid from peptides with a proline residue in the penultimate position. This protein has been shown to localize to the mitochondria of renal cells, and have a role in ciliary function. Mutations in this gene are associated with nephronophthisis-like nephropathy-1. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene, however, expression of some of these isoforms in vivo is not known.[provided by RefSeq, Mar 2011]
XPO1	chr2	61477849	61538626	-	ENSG00000082898.16	protein_coding	CRM-1|CRM1|emb|exp1	2p15	exportin 1	This cell-cycle-regulated gene encodes a protein that mediates leucine-rich nuclear export signal (NES)-dependent protein transport. The protein specifically inhibits the nuclear export of Rev and U snRNAs. It is involved in the control of several cellular processes by controlling the localization of cyclin B, MPAK, and MAPKAP kinase 2. This protein also regulates NFAT and AP-1. [provided by RefSeq, Jan 2015]
XPO4	chr13	20777329	20903048	-	ENSG00000132953.16	protein_coding	exp4	13q12.11	exportin 4	XPO4 belongs to a large family of karyopherins (see MIM 602738) that mediate the transport of proteins and other cargo between the nuclear and cytoplasmic compartments (Lipowsky et al., 2000 [PubMed 10944119]).[supplied by OMIM, Mar 2009]
XPO5	chr6	43522330	43576075	-	ENSG00000124571.17	protein_coding	exp5	6p21.1	exportin 5	This gene encodes a member of the karyopherin family that is required for the transport of small RNAs and double-stranded RNA-binding proteins from the nucleus to the cytoplasm. The encoded protein translocates cargo through the nuclear pore complex in a RanGTP-dependent process. [provided by RefSeq, Aug 2011]
XPO6	chr16	28097979	28211920	-	ENSG00000169180.11	protein_coding	EXP6|RANBP20	16p12.1	exportin 6	The protein encoded by this gene is a member of the importin-beta family. Members of this family are regulated by the GTPase Ran to mediate transport of cargo across the nuclear envelope. This protein has been shown to mediate nuclear export of profilin-actin complexes. A pseudogene of this gene is located on the long arm of chromosome 14. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
XPO7	chr8	21919671	22006585	+	ENSG00000130227.16	protein_coding	EXP7|RANBP16	8p21.3	exportin 7	The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-16 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]
XPOT	chr12	64404350	64451127	+	ENSG00000184575.11	protein_coding	XPO3	12q14.2	exportin for tRNA	This gene encodes a protein belonging to the RAN-GTPase exportin family that mediates export of tRNA from the nucleus to the cytoplasm. Translocation of tRNA to the cytoplasm occurs once exportin has bound both tRNA and GTP-bound RAN. [provided by RefSeq, Jul 2008]
XPR1	chr1	180632004	180890251	+	ENSG00000143324.13	protein_coding	IBGC6|SLC53A1|SYG1|X3	1q25.3	xenotropic and polytropic retrovirus receptor 1	The protein encoded by this gene is a receptor for the xenotropic and polytropic classes of murine leukemia viruses. The encoded protein is involved in phosphate homeostasis by mediating phosphate export from the cell. Defects in this gene have been associated with idiopathic basal ganglia calcification-6. [provided by RefSeq, Jun 2016]
XRCC1	chr19	43543040	43580473	-	ENSG00000073050.11	protein_coding	RCC|SCAR26	19q13.31	X-ray repair cross complementing 1	The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
XRCC3	chr14	103697609	103715504	-	ENSG00000126215.13	protein_coding	CMM6	14q32.33	X-ray repair cross complementing 3	This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
XRCC4	chr5	83077498	83353787	+	ENSG00000152422.15	protein_coding	SSMED	5q14.2	X-ray repair cross complementing 4	The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternate transcript variants such as NM_022406 are unlikely to be expressed in some individuals due to a polymorphism (rs1805377) in the last splice acceptor site. [provided by RefSeq, Oct 2019]
XRCC5	chr2	216107464	216206303	+	ENSG00000079246.15	protein_coding	KARP-1|KARP1|KU80|KUB2|Ku86|NFIV	2q35	X-ray repair cross complementing 5	The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events.  This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
XRCC6	chr22	41621119	41664048	+	ENSG00000196419.12	protein_coding	CTC75|CTCBF|G22P1|KU70|ML8|TLAA	22q13.2	X-ray repair cross complementing 6	The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination. High levels of autoantibodies to p70 and p80 have been found in some patients with systemic lupus erythematosus. [provided by RefSeq, Jul 2008]
XRN1	chr3	142306607	142448062	-	ENSG00000114127.10	protein_coding	SEP1	3q23	5'-3' exoribonuclease 1	This gene encodes a member of the 5-3 exonuclease family. The encoded protein may be involved in replication-dependent histone mRNA degradation, and interacts directly with the enhancer of mRNA-decapping protein 4. In addition to mRNA metabolism, a similar protein in yeast has been implicated in a variety of nuclear and cytoplasmic functions, including homologous recombination, meiosis, telomere maintenance, and microtubule assembly. Mutations in this gene are associated with osteosarcoma, suggesting that the encoded protein may also play a role in bone formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
XRN2	chr20	21303304	21389827	+	ENSG00000088930.7	protein_coding	-	20p11.22	5'-3' exoribonuclease 2	Ubiquitous expression in appendix (RPKM 21.1), thyroid (RPKM 20.8) and 25 other tissues
XRRA1	chr11	74807739	74949200	-	ENSG00000166435.15	protein_coding	-	11q13.4	X-ray radiation resistance associated 1	-
XX-C00717C00720L.1	chr22	50316035	50317025	+	ENSG00000279182.1	antisense	-	-	-	-
XX-C283C717.1	chr22	50314631	50316008	+	ENSG00000227484.1	antisense	-	-	-	-
XXbac-B562F10.11	chr22	20450122	20451824	+	ENSG00000215493.3	processed_pseudogene	-	-	-	-
XXbac-BCX196D17.5	chr6	29124210	29128908	+	ENSG00000227206.1	lincRNA	-	-	-	-
XXbac-BPG13B8.10	chr6	29497509	29510556	+	ENSG00000229274.1	lincRNA	-	-	-	-
XXbac-BPG154L12.4	chr6	32255711	32265838	+	ENSG00000225914.1	antisense	-	-	-	-
XXbac-BPG154L12.5	chr6	32255284	32350039	+	ENSG00000277427.1	antisense	-	-	-	-
XXbac-BPG157A10.21	chr6	33246075	33246856	-	ENSG00000272217.1	lincRNA	-	-	-	-
XXbac-BPG170G13.32	chr6	29751965	29752207	-	ENSG00000272236.1	lincRNA	-	-	-	-
XXbac-BPG181B23.6	chr6	31462728	31463336	-	ENSG00000233902.1	unprocessed_pseudogene	-	-	-	-
XXbac-BPG181B23.7	chr6	31394289	31395495	-	ENSG00000272221.1	lincRNA	-	-	-	-
XXbac-BPG248L24.10	chr6	31307815	31308549	-	ENSG00000229836.1	unprocessed_pseudogene	-	-	-	-
XXbac-BPG248L24.12	chr6	31356647	31357637	+	ENSG00000271581.1	unprocessed_pseudogene	-	-	-	-
XXbac-BPG248L24.13	chr6	31293908	31301642	-	ENSG00000256166.1	lincRNA	-	-	-	-
XXbac-BPG249D20.9	chr6	30516266	30519217	+	ENSG00000235781.1	antisense	-	-	-	-
XXbac-BPG252P9.10	chr6	30742929	30743592	+	ENSG00000272273.1	antisense	-	-	-	-
XXbac-BPG252P9.9	chr6	30723105	30723877	-	ENSG00000272540.1	antisense	-	-	-	-
XXbac-BPG254F23.7	chr6	32718005	32719170	+	ENSG00000232080.5	processed_transcript	-	-	-	-
XXbac-BPG258E24.10	chr6	29036021	29076524	+	ENSG00000277661.4	antisense	-	-	-	-
XXbac-BPG27H4.8	chr6	30839526	30848159	-	ENSG00000237923.1	lincRNA	-	-	-	-
XXbac-BPG283O16.9	chr6	30282349	30286054	-	ENSG00000280128.1	TEC	-	-	-	-
XXbac-BPG299F13.14	chr6	31200165	31201918	-	ENSG00000271821.1	lincRNA	-	-	-	-
XXbac-BPG299F13.17	chr6	31195200	31198037	-	ENSG00000272501.1	antisense	-	-	-	-
XXbac-BPG300A18.13	chr6	32184733	32185882	-	ENSG00000273333.2	3prime_overlapping_ncRNA	-	-	-	-
XXbac-BPG308K3.5	chr6	28837869	28839006	-	ENSG00000225173.1	lincRNA	-	-	-	-
XXbac-BPG55C20.7	chr6	57965630	57972218	+	ENSG00000225096.1	lincRNA	-	-	-	-
XXbac-BPGBPG55C20.2	chr6	57908560	57913911	-	ENSG00000272316.1	lincRNA	-	-	-	-
XXbac-BPGBPG55C20.3	chr6	57902609	57903148	-	ENSG00000271761.1	lincRNA	-	-	-	-
XXcos-LUCA16.1	chr3	50239618	50239984	+	ENSG00000213600.3	sense_intronic	-	-	-	-
XXyac-YM21GA2.4	chr9	87864166	87866290	+	ENSG00000234460.1	lincRNA	-	-	-	-
XXyac-YM21GA2.7	chr9	87857015	87859399	-	ENSG00000214888.2	antisense	-	-	-	-
XXyac-YR38GF2.1	chr6	39818751	39823227	+	ENSG00000281969.1	TEC	-	-	-	-
XXyac-YX65C7_A.2	chr6	169213254	169239565	+	ENSG00000226445.1	antisense	-	-	-	-
XXYLT1	chr3	195068279	195271167	-	ENSG00000173950.15	protein_coding	C3orf21	3q29	xyloside xylosyltransferase 1	Ubiquitous expression in placenta (RPKM 1.4), esophagus (RPKM 1.2) and 24 other tissues
XXYLT1-AS2	chr3	195147871	195152790	+	ENSG00000230266.1	antisense	-	3q29	XXYLT1 antisense RNA 2	-
XYLB	chr3	38346760	38421348	+	ENSG00000093217.9	protein_coding	-	3p22.2	xylulokinase	Broad expression in liver (RPKM 5.0), kidney (RPKM 3.6) and 18 other tissues
XYLT1	chr16	17101769	17470881	-	ENSG00000103489.11	protein_coding	DBQD2|PXYLT1|XT-I|XT1|XTI|XYLTI|xylT-I	16p12.3	xylosyltransferase 1	This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009]
XYLT2	chr17	50346092	50363138	+	ENSG00000015532.9	protein_coding	PXYLT2|SOS|XT-II|XT2|xylT-II	17q21.33	xylosyltransferase 2	The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
Y_RNA	chr1	7982881	7982983	-	ENSG00000200344.1	misc_RNA	-	-	-	-
YAE1	chr7	 39566404	39612089	+	ENSG00000241127	protein-coding	C7orf36|CIAB2|GK003|YAE1D1	7p14.1	YAE1 maturation factor of ABCE1	Ubiquitous expression in testis (RPKM 3.0), endometrium (RPKM 2.4) and 25 other tissues
YAF2	chr12	42157104	42238349	-	ENSG00000015153.14	protein_coding	-	12q12	YY1 associated factor 2	Ubiquitous expression in heart (RPKM 3.8), brain (RPKM 3.3) and 25 other tissues
YAP1	chr11	102110461	102233423	+	ENSG00000137693.13	protein_coding	COB1|YAP|YAP2|YAP65|YKI	11q22.1	Yes1 associated transcriptional regulator	This gene encodes a downstream nuclear effector of the Hippo signaling pathway which is involved in development, growth, repair, and homeostasis. This gene is known to play a role in the development and progression of multiple cancers as a transcriptional regulator of this signaling pathway and may function as a potential target for cancer treatment. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2013]
YARS1	chr1	 32775239	32817358	-	ENSG00000134684	protein-coding	CMTDIC|IMNEPD2|TYRRS|YARS|YRS|YTS	1p35.1	tyrosyl-tRNA synthetase 1	Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Tyrosyl-tRNA synthetase belongs to the class I tRNA synthetase family. Cytokine activities have also been observed for the human tyrosyl-tRNA synthetase, after it is split into two parts, an N-terminal fragment that harbors the catalytic site and a C-terminal fragment found only in the mammalian enzyme. The N-terminal fragment is an interleukin-8-like cytokine, whereas the released C-terminal fragment is an EMAP II-like cytokine. [provided by RefSeq, Jul 2008]
YARS2	chr12	32727490	32755902	-	ENSG00000139131.12	protein_coding	CGI-04|MLASA2|MT-TYRRS|TYRRS	12p11.21	tyrosyl-tRNA synthetase 2	This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]
YBEY	chr21	46286337	46297751	+	ENSG00000182362.13	protein_coding	C21orf57	21q22.3	ybeY metalloendoribonuclease	This gene encodes a highly conserved metalloprotein. A similar protein in bacteria acts as an endoribonuclease, and is thought to function in ribosomal RNA maturation and ribosome assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
YBX1	chr1	42682427	42702349	+	ENSG00000065978.18	protein_coding	BP-8|CBF-A|CSDA2|CSDB|DBPB|EFI-A|MDR-NF1|NSEP-1|NSEP1|YB-1|YB1	1p34.2	Y-box binding protein 1	This gene encodes a highly conserved cold shock domain protein that has broad nucleic acid binding properties. The encoded protein functions as both a DNA and RNA binding protein and has been implicated in numerous cellular processes including regulation of transcription and translation, pre-mRNA splicing, DNA reparation and mRNA packaging. This protein is also a component of messenger ribonucleoprotein (mRNP) complexes and may have a role in microRNA processing. This protein can be secreted through non-classical pathways and functions as an extracellular mitogen. Aberrant expression of the gene is associated with cancer proliferation in numerous tissues. This gene may be a prognostic marker for poor outcome and drug resistance in certain cancers. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on multiple chromosomes. [provided by RefSeq, Sep 2015]
YBX1P2	chr7	105582258	105583256	-	ENSG00000231167.3	processed_pseudogene	-	7q22.3	Y-box binding protein 1 pseudogene 2	-
YBX1P5	chr5	72417489	72418335	+	ENSG00000251108.1	processed_pseudogene	-	5q13.2	Y-box binding protein 1 pseudogene 5	-
YBX2	chr17	7288252	7294615	-	ENSG00000006047.12	protein_coding	CONTRIN|CSDA3|DBPC|MSY2	17p13.1	Y-box binding protein 2	This gene encodes a nucleic acid binding protein which is highly expressed in germ cells. The encoded protein binds to a Y-box element in the promoters of certain genes but also binds to mRNA transcribed from these genes. Pseudogenes for this gene are located on chromosome 10 and 15. [provided by RefSeq, Feb 2012]
YBX3	chr12	10699089	10723312	-	ENSG00000060138.12	protein_coding	CSDA|CSDA1|DBPA|ZONAB	12p13.2	Y-box binding protein 3	Broad expression in testis (RPKM 175.4), skin (RPKM 131.9) and 23 other tissues
YBX3P1	chr16	 31567767	31569524	-	-	pseudogene	CSDAP1	16p11.2	Y-box binding protein 3 pseudogene 1	-
YDJC	chr22	21628089	21630064	-	ENSG00000161179.13	protein_coding	-	22q11.21	YdjC chitooligosaccharide deacetylase homolog	-
YEATS2	chr3	183697818	183812625	+	ENSG00000163872.15	protein_coding	FAME4	3q27.1	YEATS domain containing 2	Summary: The protein encoded by this gene is a scaffolding subunit of the ATAC complex, which is a complex with acetyltransferase activity on histones H3 and H4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]
YEATS2-AS1	chr3	183806457	183810783	-	ENSG00000233885.7	antisense	-	3q27.1	YEATS2 antisense RNA 1	-
YEATS4	chr12	69359703	69390796	+	ENSG00000127337.6	protein_coding	4930573H17Rik|B230215M10Rik|GAS41|NUBI-1|YAF9	12q15	YEATS domain containing 4	The protein encoded by this gene is found in the nucleoli. It has high sequence homology to human MLLT1, and yeast and human MLLT3 proteins. Both MLLT1 and MLLT3 proteins belong to a class of transcription factors, indicating that the encoded protein might also represent a transcription factor. This protein is thought to be required for RNA transcription. This gene has been shown to be amplified in tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
YES1	chr18	721588	812546	-	ENSG00000176105.13	protein_coding	HsT441|P61-YES|Yes|c-yes	18p11.32	YES proto-oncogene 1, Src family tyrosine kinase	This gene is the cellular homolog of the Yamaguchi sarcoma virus oncogene. The encoded protein has tyrosine kinase activity and belongs to the src family of proteins. This gene lies in close proximity to thymidylate synthase gene on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008]
YIF1A	chr11	66284580	66289170	-	ENSG00000174851.15	protein_coding	54TM|FinGER7|YIF1|YIF1P	11q13.2	Yip1 interacting factor homolog A, membrane trafficking protein	Ubiquitous expression in duodenum (RPKM 11.2), liver (RPKM 9.6) and 25 other tissues
YIF1B	chr19	38305104	38317273	-	ENSG00000167645.16	protein_coding	FinGER8|KABAMAS	19q13.2	Yip1 interacting factor homolog B, membrane trafficking protein	Ubiquitous expression in colon (RPKM 13.5), small intestine (RPKM 9.4) and 25 other tissues
YIPF1	chr1	53851719	53889834	-	ENSG00000058799.14	protein_coding	DJ167A19.1|FinGER1	1p32.3	Yip1 domain family member 1	Ubiquitous expression in thyroid (RPKM 28.9), prostate (RPKM 18.8) and 25 other tissues
YIPF2	chr19	10922185	10928681	-	ENSG00000130733.10	protein_coding	FinGER2	19p13.2	Yip1 domain family member 2	Ubiquitous expression in testis (RPKM 22.9), placenta (RPKM 21.1) and 25 other tissues
YIPF3	chr6	43511827	43516990	-	ENSG00000137207.11	protein_coding	C6orf109|FinGER3|KLIP1|dJ337H4.3	6p21.1	Yip1 domain family member 3	Ubiquitous expression in placenta (RPKM 36.5), prostate (RPKM 33.2) and 25 other tissues
YIPF4	chr2	32277910	32316594	+	ENSG00000119820.10	protein_coding	FinGER4|Nbla11189	2p22.3	Yip1 domain family member 4	Ubiquitous expression in thyroid (RPKM 14.7), fat (RPKM 12.2) and 25 other tissues
YIPF5	chr5	144158159	144170714	-	ENSG00000145817.16	protein_coding	FinGER5|MEDS2|SB140|SMAP-5|SMAP5|YIP1A	5q31.3	Yip1 domain family member 5	Ubiquitous expression in placenta (RPKM 14.2), thyroid (RPKM 12.3) and 25 other tissues
YIPF6	chrX	68498323	68537285	+	ENSG00000181704.11	protein_coding	FinGER6	Xq12-q13.1	Yip1 domain family member 6	Ubiquitous expression in thyroid (RPKM 11.2), prostate (RPKM 8.9) and 25 other tissues
YIPF7	chr4	44622065	44678556	-	ENSG00000177752.14	protein_coding	FinGER9	4p12	Yip1 domain family member 7	Low expression observed in reference dataset
YJEFN3	chr19	19528861	19537581	+	ENSG00000250067.11	protein_coding	-	19p13.11	YjeF N-terminal domain containing 3	-
YJU2B	chr19	 13731752	13763289	+	ENSG00000104957	protein-coding	CCDC130	19p13.13	YJU2 splicing factor homolog B	-
YKT6	chr7	44200968	44214294	+	ENSG00000106636.7	protein_coding	-	7p13	YKT6 v-SNARE homolog	Ubiquitous expression in brain (RPKM 24.8), colon (RPKM 21.7) and 25 other tissues
YLPM1	chr14	74763366	74859435	+	ENSG00000119596.17	protein_coding	C14orf170|PPP1R169|ZAP113|ZAP3	14q24.3	YLP motif containing 1	Ubiquitous expression in testis (RPKM 14.0), brain (RPKM 9.5) and 25 other tissues
YME1L1	chr10	27110112	27155266	-	ENSG00000136758.18	protein_coding	FTSH|MEG4|OPA11|PAMP|YME1L	10p12.1	YME1 like 1 ATPase	The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
YOD1	chr1	207043849	207052980	-	ENSG00000180667.10	protein_coding	DUBA8|OTUD2|PRO0907	1q32.1	YOD1 deubiquitinase	Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. The protein encoded by this gene belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
YPEL1	chr22	21697544	21735834	-	ENSG00000100027.14	protein_coding	FKSG3	22q11.21-q11.22	yippee like 1	This gene is located in the region associated with DiGeorge syndrome on chromosome 22. The encoded protein localizes to the centrosome and nucleolus and may play a role in the regulation of cell division. [provided by RefSeq, Feb 2015]
YPEL2	chr17	59331689	59401729	+	ENSG00000175155.8	protein_coding	FKSG4	17q22	yippee like 2	Ubiquitous expression in fat (RPKM 5.3), bone marrow (RPKM 5.1) and 25 other tissues
YPEL3	chr16	30092314	30096915	-	ENSG00000090238.11	protein_coding	-	16p11.2	yippee like 3	-
YPEL4	chr11	57645087	57649944	-	ENSG00000166793.10	protein_coding	-	11q12.1	yippee like 4	-
YPEL5P2	chr11	47841324	47841682	+	ENSG00000271557.1	processed_pseudogene	-	11p11.2	YPEL5 pseudogene 2	-
YRDC	chr1	37802944	37808185	-	ENSG00000196449.3	protein_coding	DRIP3|IRIP|SUA5	1p34.3	yrdC N6-threonylcarbamoyltransferase domain containing	Ubiquitous expression in bone marrow (RPKM 17.4), testis (RPKM 11.7) and 25 other tissues
YTHDC1	chr4	68310387	68350089	-	ENSG00000083896.12	protein_coding	YT521|YT521-B	4q13.2	YTH domain containing 1	Ubiquitous expression in bone marrow (RPKM 22.7), ovary (RPKM 15.2) and 25 other tissues
YTHDC2	chr5	113513683	113595285	+	ENSG00000047188.15	protein_coding	CAHL|hYTHDC2	5q22.2	YTH domain containing 2	This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein binds to N6-methyladenosine, a common modified RNA nucleotide that is enriched in the stop codons and 3 UTRs of eukaryotic messenger RNAs. Binding of proteins to this modified nucleotide may regulate mRNA translation and stability. This gene may be associated with susceptibility to pancreatic cancer in human patients, and knockdown of this gene resulted in reduced proliferation in a human liver cancer cell line. [provided by RefSeq, Sep 2016]
YTHDF1	chr20	63195429	63216234	-	ENSG00000149658.17	protein_coding	C20orf21|DF1	20q13.33	YTH N6-methyladenosine RNA binding protein 1	Ubiquitous expression in thyroid (RPKM 18.6), bone marrow (RPKM 15.2) and 25 other tissues
YTHDF2	chr1	28736621	28769775	+	ENSG00000198492.15	protein_coding	CAHL|DF2|HGRG8|NY-REN-2	1p35.3	YTH N6-methyladenosine RNA binding protein 2	This gene encodes a member of the YTH (YT521-B homology) superfamily containing YTH domain. The YTH domain is typical for the eukaryotes and is particularly abundant in plants. The YTH domain is usually located in the middle of the protein sequence and may function in binding to RNA. In addition to a YTH domain, this protein has a proline rich region which may be involved in signal transduction. An Alu-rich domain has been identified in one of the introns of this gene, which is thought to be associated with human longevity. In addition, reciprocal translocations between this gene and the Runx1 (AML1) gene on chromosome 21 has been observed in patients with acute myeloid leukemia. This gene was initially mapped to chromosome 14, which was later turned out to be a pseudogene. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Oct 2012]
YTHDF3	chr8	63168553	63212786	+	ENSG00000185728.16	protein_coding	DF3	8q12.3	YTH N6-methyladenosine RNA binding protein 3	This gene encodes a member of the YTH (YT521-B homology) domain protein family. The YTH domain is common in eukaryotes, is often found in the middle of the protein sequence, and may function in binding to RNA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
YWHAB	chr20	44885676	44908532	+	ENSG00000166913.12	protein_coding	GW128|HEL-S-1|HS1|KCIP-1|YWHAA	20q13.12	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta	This gene encodes a protein belonging to the 14-3-3 family of proteins, members of which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals. The encoded protein has been shown to interact with RAF1 and CDC25 phosphatases, suggesting that it may play a role in linking mitogenic signaling and the cell cycle machinery. Two transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
YWHAE	chr17	1344272	1400378	-	ENSG00000108953.16	protein_coding	14-3-3E|HEL2|KCIP-1|MDCR|MDS	17p13.3	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon	This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008]
YWHAH	chr22	31944461	31957603	+	ENSG00000128245.14	protein_coding	YWHA1	22q12.3	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta	This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and bovine orthologs. This gene contains a 7 bp repeat sequence in its 5 UTR, and changes in the number of this repeat have been associated with early-onset schizophrenia and psychotic bipolar disorder. [provided by RefSeq, Jun 2009]
YWHAH-AS1	chr22	 31933521	31945366	-	ENSG00000128254	ncRNA	C22orf24|HSN44A4A	22q12.3	YWHAH antisense RNA 1	-
YWHAQ	chr2	9583972	9631014	-	ENSG00000134308.13	protein_coding	14-3-3|1C5|HS1	2p25.1	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta	This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse and rat orthologs. This gene is upregulated in patients with amyotrophic lateral sclerosis. It contains in its 5 UTR a 6 bp tandem repeat sequence which is polymorphic, however, there is no correlation between the repeat number and the disease. [provided by RefSeq, Jul 2008]
YWHAQP6	chr3	141600276	141600579	-	ENSG00000249986.1	processed_pseudogene	-	3q23	YWHAQ pseudogene 6	-
YWHAZ	chr8	100916525	100953388	-	ENSG00000164924.17	protein_coding	14-3-3-zeta|HEL-S-3|HEL-S-93|HEL4|KCIP-1|POPCHAS|YWHAD	8q22.3	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta	This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and sheep orthologs. The encoded protein interacts with IRS1 protein, suggesting a role in regulating insulin sensitivity. Several transcript variants that differ in the 5 UTR but that encode the same protein have been identified for this gene. [provided by RefSeq, Oct 2008]
YWHAZP5	chr10	105686322	105687051	+	ENSG00000213260.3	processed_pseudogene	-	10q25.1	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta pseudogene 5	-
YY1AP1	chr1	155659443	155689000	-	ENSG00000163374.19	protein_coding	GRNG|HCCA1|HCCA2|YY1AP	1q22	YY1 associated protein 1	The encoded gene product presumably interacts with YY1 protein; however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Z69666.2	chr16	125737	127219	+	ENSG00000228779.1	antisense	-	-	-	-
Z69720.2	chr16	90631	91102	+	ENSG00000269482.1	antisense	-	-	-	-
Z69720.3	chr16	74683	74961	+	ENSG00000278995.1	TEC	-	-	-	-
Z69890.1	chr16	231134	231472	+	ENSG00000206168.1	processed_pseudogene	-	-	-	-
Z82214.3	chr22	43212674	43213661	+	ENSG00000236272.1	antisense	-	-	-	-
Z83851.4	chr22	42276355	42277052	+	ENSG00000233903.2	lincRNA	-	-	-	-
Z84721.4	chr16	168679	169334	+	ENSG00000225323.1	unprocessed_pseudogene	-	-	-	-
Z84812.4	chr16	17514	35195	-	ENSG00000260803.1	processed_transcript	-	-	-	-
Z97634.3	chr16	382097	392960	+	ENSG00000236829.9	transcribed_processed_pseudogene	-	-	-	-
ZADH2	chr18	75195108	75209348	-	ENSG00000180011.6	protein_coding	PRG-3	18q22.3	zinc binding alcohol dehydrogenase domain containing 2	Predicted to enable 13-prostaglandin reductase activity. Predicted to be involved in negative regulation of fat cell differentiation. Predicted to be located in peroxisome. [provided by Alliance of Genome Resources, Apr 2022]
ZAN	chr7	100733626	100797797	+	ENSG00000146839.18	protein_coding	-	7q22.1	zonadhesin	Low expression observed in reference dataset
ZAP70	chr2	97713560	97739862	+	ENSG00000115085.13	protein_coding	ADMIO2|IMD48|SRK|STCD|STD|TZK|ZAP-70	2q11.2	zeta chain of T cell receptor associated protein kinase 70	This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation, functions in the initial step of TCR-mediated signal transduction in combination with the Src family kinases, Lck and Fyn. This enzyme is also essential for thymocyte development. Mutations in this gene cause selective T-cell defect, a severe combined immunodeficiency disease characterized by a selective absence of CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ZAR1	chr4	48490252	48494389	+	ENSG00000182223.7	protein_coding	Z3CXXC6	4p11	zygote arrest 1	This maternal effect gene is oocyte-specific and encodes a protein that is thought to function in the initiation of embryogenesis. A similar protein in mouse is required for female fertility. [provided by RefSeq, Jul 2013]
ZBED1	chrX	2486414	2500967	-	ENSG00000214717.11	protein_coding	ALTE|DREF|TRAMP|hDREF	X;Y	zinc finger BED-type containing 1	This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. It was earlier identified as a gene with similarity to Ac transposable elements, however, was found not to have transposase activity. Later studies show that this gene product is localized in the nucleus and functions as a transcription factor. It binds to DNA elements found in the promoter regions of several genes related to cell proliferation, such as histone H1, hence may have a role in regulating genes related to cell proliferation. Alternatively spliced transcript variants with different 5 untranslated region have been found for this gene. [provided by RefSeq, Jan 2010]
ZBED10P	chr7	 150330183	150332721	+	-	pseudogene	C7orf29|ZBED6CL	7q36.1	zinc finger BED-type containing 10, pseudogene	-
ZBED3	chr5	77072072	77087323	-	ENSG00000132846.5	protein_coding	-	5q13.3	zinc finger BED-type containing 3	Ubiquitous expression in fat (RPKM 5.0), kidney (RPKM 4.8) and 25 other tissues
ZBED3-AS1	chr5	77086740	77166909	+	ENSG00000250802.6	antisense	lnc13728	5q13.3	ZBED3 antisense RNA 1	Broad expression in thyroid (RPKM 2.3), fat (RPKM 2.0) and 17 other tissues
ZBED4	chr22	49853842	49890078	+	ENSG00000100426.6	protein_coding	-	22q13.33	zinc finger BED-type containing 4	-
ZBED5	chr11	10812074	10858796	-	ENSG00000236287.7	protein_coding	Buster1	11p15.4	zinc finger BED-type containing 5	This gene is unusual in that its coding sequence is mostly derived from Charlie-like DNA transposon; however, it does not appear to be an active DNA transposon as it is not flanked by terminal inverted repeats. The encoded protein is conserved among the mammalian Laurasiatheria branch. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2009]
ZBED9	chr6	28571630	28616212	-	ENSG00000232040.2	protein_coding	Buster4|SCAND3|ZFP38-L|ZNF305P2|ZNF452|dJ1186N24.3	6p22.1	zinc finger BED-type containing 9	Biased expression in testis (RPKM 5.0), thyroid (RPKM 0.8) and 7 other tissues
ZBTB1	chr14	64503712	64533690	+	ENSG00000126804.13	protein_coding	ZNF909	14q23.3	zinc finger and BTB domain containing 1	Ubiquitous expression in bone marrow (RPKM 14.1), lymph node (RPKM 11.3) and 25 other tissues
ZBTB10	chr8	80485619	80526265	+	ENSG00000205189.11	protein_coding	RINZF	8q21.13	zinc finger and BTB domain containing 10	Ubiquitous expression in prostate (RPKM 6.2), placenta (RPKM 5.4) and 25 other tissues
ZBTB11	chr3	101648889	101677495	-	ENSG00000066422.4	protein_coding	MRT69|ZNF-U69274|ZNF913	3q12.3	zinc finger and BTB domain containing 11	Ubiquitous expression in bone marrow (RPKM 8.1), testis (RPKM 5.9) and 25 other tissues
ZBTB12	chr6	31899607	31901992	-	ENSG00000204366.3	protein_coding	Bat9|C6orf46|D6S59E|G10|NG35	6p21.33	zinc finger and BTB domain containing 12	Ubiquitous expression in ovary (RPKM 4.1), endometrium (RPKM 1.9) and 23 other tissues
ZBTB12BP	chr4	39770081	39771371	-	ENSG00000180610.10	processed_pseudogene	ZBTB12B|ZBTB12P1|ZNF920	4p14	zinc finger and BTB domain containing 12B, pseudogene	-
ZBTB14	chr18	5289019	5297053	-	ENSG00000198081.10	protein_coding	ZF5|ZFP-161|ZFP-5|ZFP161|ZNF478	18p11.31	zinc finger and BTB domain containing 14	Ubiquitous expression in lymph node (RPKM 9.0), appendix (RPKM 6.6) and 25 other tissues
ZBTB16	chr11	114059593	114250676	+	ENSG00000109906.13	protein_coding	PLZF|ZNF145	11q23.2	zinc finger and BTB domain containing 16	This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. This protein is located in the nucleus, is involved in cell cycle progression, and interacts with a histone deacetylase. Specific instances of aberrant gene rearrangement at this locus have been associated with acute promyelocytic leukemia (APL). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
ZBTB17	chr1	15941869	15976132	-	ENSG00000116809.11	protein_coding	MIZ-1|ZNF151|ZNF60|pHZ-67	1p36.13	zinc finger and BTB domain containing 17	This gene encodes a zinc finger protein involved in the regulation of c-myc. The symbol MIZ1 has also been associated with PIAS2 which is a different gene located on chromosome 18. [provided by RefSeq, Jul 2008]
ZBTB2	chr6	151364117	151391548	-	ENSG00000181472.4	protein_coding	ZNF437	6q25.1	zinc finger and BTB domain containing 2	Ubiquitous expression in thyroid (RPKM 17.1), lymph node (RPKM 6.4) and 25 other tissues
ZBTB20	chr3	114314501	115147271	-	ENSG00000181722.16	protein_coding	DPZF|HOF|ODA-8S|PRIMS|ZNF288	3q13.31	zinc finger and BTB domain containing 20	This gene, which was initially designated as dendritic cell-derived BTB/POZ zinc finger (DPZF), belongs to a family of transcription factors with an N-terminal BTB/POZ domain and a C-terminal DNA-bindng zinc finger domain. The BTB/POZ domain is a hydrophobic region of approximately 120 aa which mediates association with other BTB/POZ domain-containing proteins. This gene acts as a transcriptional repressor and plays a role in many processes including neurogenesis, glucose homeostasis, and postnatal growth. Mutations in this gene have been associated with Primrose syndrome as well as the 3q13.31 microdeletion syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
ZBTB20-AS1	chr3	114351811	114388978	+	ENSG00000241560.5	antisense	-	3q13.31	ZBTB20 antisense RNA 1	-
ZBTB22	chr6	33314406	33317942	-	ENSG00000236104.2	protein_coding	BING1|ZBTB22A|ZNF297|ZNF297A|fru|fruitless	6p21.32	zinc finger and BTB domain containing 22	Ubiquitous expression in ovary (RPKM 7.3), thyroid (RPKM 7.3) and 25 other tissues
ZBTB24	chr6	109462594	109483237	-	ENSG00000112365.4	protein_coding	BIF1|ICF2|PATZ2|ZNF450	6q21	zinc finger and BTB domain containing 24	This gene encodes a protein similar to a protein in rodents which is induced by bone morphogenic protein 2 in vitro. [provided by RefSeq, Aug 2011]
ZBTB25	chr14	64449106	64505213	-	ENSG00000089775.11	protein_coding	C14orf51|KUP|ZNF46	14q23.3	zinc finger and BTB domain containing 25	Ubiquitous expression in liver (RPKM 4.4), thyroid (RPKM 2.4) and 25 other tissues
ZBTB26	chr9	122915566	122931500	-	ENSG00000171448.8	protein_coding	ZNF481|bioref	9q33.2	zinc finger and BTB domain containing 26	Ubiquitous expression in testis (RPKM 7.0), ovary (RPKM 4.9) and 25 other tissues
ZBTB3	chr11	62748319	62754188	-	ENSG00000185670.7	protein_coding	-	11q12.3	zinc finger and BTB domain containing 3	-
ZBTB32	chr19	35704527	35717038	+	ENSG00000011590.13	protein_coding	FAXF|FAZF|Rog|TZFP|ZNF538	19q13.12	zinc finger and BTB domain containing 32	Biased expression in testis (RPKM 13.5), lymph node (RPKM 1.5) and 2 other tissues
ZBTB34	chr9	126860665	126885878	+	ENSG00000177125.5	protein_coding	ZNF918	9q33.3	zinc finger and BTB domain containing 34	Ubiquitous expression in bone marrow (RPKM 6.2), placenta (RPKM 3.9) and 25 other tissues
ZBTB37	chr1	173868082	173903549	+	ENSG00000185278.15	protein_coding	D430004I08Rik|ZNF908	1q25.1	zinc finger and BTB domain containing 37	Broad expression in testis (RPKM 2.8), bone marrow (RPKM 1.4) and 24 other tissues
ZBTB38	chr3	141324213	141449792	+	ENSG00000177311.11	protein_coding	CIBZ|PPP1R171|ZNF921	3q23	zinc finger and BTB domain containing 38	The protein encoded by this gene is a zinc finger transcriptional activator that binds methylated DNA. The encoded protein can form homodimers or heterodimers through the zinc finger domains. In mouse, inhibition of this protein has been associated with apoptosis in some cell types. [provided by RefSeq, Jun 2010]
ZBTB39	chr12	56998834	57006446	-	ENSG00000166860.2	protein_coding	ZNF922	12q13.3	zinc finger and BTB domain containing 39	Broad expression in testis (RPKM 5.1), ovary (RPKM 2.2) and 25 other tissues
ZBTB4	chr17	7459366	7484263	-	ENSG00000174282.11	protein_coding	KAISO-L1|ZNF903	17p13.1	zinc finger and BTB domain containing 4	Ubiquitous expression in ovary (RPKM 24.8), thyroid (RPKM 20.6) and 25 other tissues
ZBTB40	chr1	22451851	22531157	+	ENSG00000184677.16	protein_coding	ZNF923	1p36.12	zinc finger and BTB domain containing 40	Ubiquitous expression in lymph node (RPKM 6.6), spleen (RPKM 6.6) and 25 other tissues
ZBTB41	chr1	197153680	197200542	-	ENSG00000177888.7	protein_coding	FRBZ1|ZNF924	1q31.3	zinc finger and BTB domain containing 41	Ubiquitous expression in thyroid (RPKM 4.8), brain (RPKM 3.7) and 25 other tissues
ZBTB42	chr14	104800596	104804712	+	ENSG00000179627.9	protein_coding	LCCS6|ZNF925	14q32.33	zinc finger and BTB domain containing 42	The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle development and myofibrillar disorganization. A novel homozygous variant of the human gene has been associated with lethal congenital contracture syndrome, an autosomal recessive disorder that results in muscle wasting. [provided by RefSeq, Mar 2015]
ZBTB43	chr9	126805006	126838210	+	ENSG00000169155.9	protein_coding	ZBTB22B|ZNF-X|ZNF297B	9q33.3	zinc finger and BTB domain containing 43	Broad expression in bone marrow (RPKM 18.2), testis (RPKM 10.2) and 24 other tissues
ZBTB44	chr11	130226677	130314686	-	ENSG00000196323.12	protein_coding	BTBD15|HSPC063|ZNF851	11q24.3	zinc finger and BTB domain containing 44	Ubiquitous expression in testis (RPKM 15.0), kidney (RPKM 11.4) and 25 other tissues
ZBTB45	chr19	58513530	58538911	-	ENSG00000119574.12	protein_coding	ZNF499	19q13.43	zinc finger and BTB domain containing 45	Ubiquitous expression in fat (RPKM 3.6), spleen (RPKM 2.9) and 25 other tissues
ZBTB46	chr20	63743666	63831244	-	ENSG00000130584.10	protein_coding	BTBD4|BZEL|RINZF|ZNF340|dJ583P15.7|dJ583P15.8	20q13.33	zinc finger and BTB domain containing 46	Ubiquitous expression in fat (RPKM 6.8), spleen (RPKM 5.8) and 25 other tissues
ZBTB46-AS1	chr20	63808076	63816521	+	ENSG00000231208.4	antisense	-	20q13.33	ZBTB46 antisense RNA 1	-
ZBTB47	chr3	42653684	42665854	+	ENSG00000114853.13	protein_coding	ZNF651	3p22.1	zinc finger and BTB domain containing 47	Broad expression in heart (RPKM 22.4), brain (RPKM 14.9) and 22 other tissues
ZBTB48	chr1	6580001	6589280	+	ENSG00000204859.12	protein_coding	HKR3|TZAP|ZNF855|pp9964	1p36.31	zinc finger and BTB domain containing 48	Ubiquitous expression in testis (RPKM 9.3), spleen (RPKM 7.4) and 25 other tissues
ZBTB49	chr4	4290251	4321786	+	ENSG00000168826.15	protein_coding	ZNF509	4p16.3	zinc finger and BTB domain containing 49	Ubiquitous expression in testis (RPKM 3.0), spleen (RPKM 2.4) and 25 other tissues
ZBTB6	chr9	122908056	122913330	-	ENSG00000186130.4	protein_coding	ZID|ZNF482	9q33.2	zinc finger and BTB domain containing 6	Ubiquitous expression in lymph node (RPKM 5.7), thyroid (RPKM 5.5) and 25 other tissues
ZBTB7A	chr19	4044364	4066945	-	ENSG00000178951.8	protein_coding	FBI-1|FBI1|LRF|TIP21|ZBTB7|ZNF857A|pokemon	19p13.3	zinc finger and BTB domain containing 7A	Ubiquitous expression in colon (RPKM 8.0), stomach (RPKM 5.5) and 25 other tissues
ZBTB7B	chr1	155002630	155018522	+	ENSG00000160685.13	protein_coding	CKROX|THPOK|ZBTB15|ZFP-67|ZFP67|ZNF857B|c-KROX|hcKROX	1q21.3	zinc finger and BTB domain containing 7B	This gene encodes a zinc finger-containing transcription factor that acts as a key regulator of lineage commitment of immature T-cell precursors. It is necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment. It also functions as a transcriptional repressor of type I collagen genes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
ZBTB7C	chr18	48026673	48410752	-	ENSG00000184828.9	protein_coding	APM-1|APM1|ZBTB36|ZNF857C	18q21.1	zinc finger and BTB domain containing 7C	Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of cell population proliferation. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
ZBTB8OS	chr1	32600172	32650903	-	ENSG00000176261.15	protein_coding	ARCH|ARCH2	1p35.1	zinc finger and BTB domain containing 8 opposite strand	Ubiquitous expression in colon (RPKM 4.0), lymph node (RPKM 3.5) and 25 other tissues
ZBTB9	chr6	33453970	33457548	+	ENSG00000213588.5	protein_coding	ZNF919	6p21.32	zinc finger and BTB domain containing 9	Ubiquitous expression in testis (RPKM 5.2), ovary (RPKM 3.9) and 25 other tissues
ZC2HC1A	chr8	78666047	78719765	+	ENSG00000104427.11	protein_coding	C8orf70|CGI-62|FAM164A	8q21.13	zinc finger C2HC-type containing 1A	Ubiquitous expression in skin (RPKM 5.6), thyroid (RPKM 3.9) and 22 other tissues
ZC2HC1C	chr14	75064170	75079987	+	ENSG00000119703.13	protein_coding	C14orf140|FAM164C	14q24.3	zinc finger C2HC-type containing 1C	Biased expression in testis (RPKM 18.3), thyroid (RPKM 2.1) and 2 other tissues
ZC3H10	chr12	56118159	56127514	+	ENSG00000135482.6	protein_coding	ZC3HDC10	12q13.2	zinc finger CCCH-type containing 10	Ubiquitous expression in testis (RPKM 6.2), ovary (RPKM 4.7) and 25 other tissues
ZC3H11A	chr1	203795654	203854999	+	ENSG00000058673.16	protein_coding	ZC3HDC11A	1q32.1	zinc finger CCCH-type containing 11A	Ubiquitous expression in skin (RPKM 33.1), lymph node (RPKM 28.6) and 25 other tissues
ZC3H11B	chr1	219608347	219613145	-	ENSG00000215817.5	protein_coding	ZC3HDC11B	1q41	zinc finger CCCH-type containing 11B	-
ZC3H12A	chr1	37474552	37484379	+	ENSG00000163874.10	protein_coding	MCPIP|MCPIP-1|MCPIP1|Reg1|dJ423B22.1	1p34.3	zinc finger CCCH-type containing 12A	ZC3H12A is an MCP1 (CCL2; MIM 158105)-induced protein that acts as a transcriptional activator and causes cell death of cardiomyocytes, possibly via induction of genes associated with apoptosis.[supplied by OMIM, Mar 2008]
ZC3H12A-DT	chr1	 37454879	37474443	-	ENSG00000233621	ncRNA	LINC01137	1p34.3	ZC3H12A divergent transcript	-
ZC3H12B	chrX	65366638	65507887	+	ENSG00000102053.12	protein_coding	CXorf32|MCPIP2	Xq11.2-q12	zinc finger CCCH-type containing 12B	The protein encoded by this gene belongs to a family of CCCH-type zinc finger proteins that are involved in the proinflammatory activation of macrophages. The exact function of this family member is unknown, but it is thought to function as a ribonuclease. [provided by RefSeq, May 2010]
ZC3H12C	chr11	110093361	110171841	+	ENSG00000149289.10	protein_coding	MCPIP3	11q22.3	zinc finger CCCH-type containing 12C	Ubiquitous expression in thyroid (RPKM 3.1), colon (RPKM 2.2) and 25 other tissues
ZC3H12D	chr6	149446795	149485061	-	ENSG00000178199.13	protein_coding	C6orf95|MCPIP4|TFL|dJ281H8.1|p34	6q25.1	zinc finger CCCH-type containing 12D	Biased expression in lymph node (RPKM 4.6), appendix (RPKM 3.5) and 11 other tissues
ZC3H14	chr14	88562909	88627596	+	ENSG00000100722.18	protein_coding	MRT56|MSUT-2|NY-REN-37|SUT2|UKp68	14q31.3	zinc finger CCCH-type containing 14	The protein encoded by this gene is a poly(A)-binding protein that can affect gene expression and poly(A) tail length. The encoded protein may influence mRNA stability, nuclear export, and translation. [provided by RefSeq, May 2016]
ZC3H15	chr2	186486156	186509363	+	ENSG00000065548.17	protein_coding	HT010|LEREPO4|MSTP012	2q32.1	zinc finger CCCH-type containing 15	Ubiquitous expression in bone marrow (RPKM 44.3), brain (RPKM 30.6) and 25 other tissues
ZC3H18	chr16	88570381	88631966	+	ENSG00000158545.15	protein_coding	NHN1	16q24.2	zinc finger CCCH-type containing 18	Ubiquitous expression in testis (RPKM 13.0), spleen (RPKM 10.3) and 25 other tissues
ZC3H3	chr8	143437655	143541453	-	ENSG00000014164.6	protein_coding	SMICL|ZC3HDC3	8q24.3	zinc finger CCCH-type containing 3	Ubiquitous expression in bone marrow (RPKM 6.1), testis (RPKM 5.7) and 25 other tissues
ZC3H4	chr19	47064187	47113752	-	ENSG00000130749.9	protein_coding	C19orf7	19q13.32	zinc finger CCCH-type containing 4	This gene encodes a member of a family of CCCH (C-x8-C-x5-C-x3-H type) zinc finger domain-containing proteins. These zinc finger domains, which coordinate zinc finger binding and are characterized by three cysteine residues and one histidine residue, are nucleic acid-binding. Other family members are known to function in post-transcriptional regulation. [provided by RefSeq, Aug 2011]
ZC3H6	chr2	112275594	112340063	+	ENSG00000188177.13	protein_coding	ZC3HDC6	2q14.1	zinc finger CCCH-type containing 6	Ubiquitous expression in ovary (RPKM 3.2), thyroid (RPKM 2.4) and 25 other tissues
ZC3H7A	chr16	11750586	11797267	-	ENSG00000122299.11	protein_coding	HSPC055|ZC3H7|ZC3HDC7	16p13.13	zinc finger CCCH-type containing 7A	Ubiquitous expression in thyroid (RPKM 13.3), lymph node (RPKM 12.9) and 25 other tissues
ZC3H7B	chr22	41301522	41360147	+	ENSG00000100403.11	protein_coding	ROXAN1|RoXaN	22q13.2	zinc finger CCCH-type containing 7B	This gene encodes a protein that contains a tetratricopeptide repeat domain. The encoded protein also interacts with the rotavirus non-structural protein NSP3. [provided by RefSeq, Jul 2008]
ZC3H8	chr2	112211525	112255136	-	ENSG00000144161.12	protein_coding	Fliz1|ZC3HDC8	2q14.1	zinc finger CCCH-type containing 8	Ubiquitous expression in testis (RPKM 3.7), thyroid (RPKM 3.3) and 25 other tissues
ZC3HAV1	chr7	139043520	139109719	-	ENSG00000105939.12	protein_coding	ARTD13|FLB6421|PARP13|ZAP|ZC3H2|ZC3HDC2	7q34	zinc finger CCCH-type containing, antiviral 1	This gene encodes a CCCH-type zinc finger protein. This antiviral protein inhibits viral replication by recruiting cellular RNA degradation machineries to degrade viral mRNAs. The encoded protein plays an important role in the innate immune response against multiple DNA and RNA viruses, including Ebola virus, HIV and SARS-CoV-2 (which causes COVID-19). [provided by RefSeq, Sep 2021]
ZC3HAV1L	chr7	139025706	139036029	-	ENSG00000146858.7	protein_coding	C7orf39	7q34	zinc finger CCCH-type containing, antiviral 1 like	Ubiquitous expression in placenta (RPKM 3.2), skin (RPKM 3.2) and 24 other tissues
ZC3HC1	chr7	130018286	130051451	-	ENSG00000091732.15	protein_coding	HSPC216|NIPA	7q32.2	zinc finger C3HC-type containing 1	This gene encodes an F-box-containing protein that is a component of an SCF-type E3 ubiquitin ligase complex that regulates the onset of cell division. The G2/M transition in the cell cycle requires the interaction of the proteins cyclin B1 and cyclin-dependent kinase 1. The activated ubiquitin ligase complex targets the protein cyclin B1 for degradation, preventing this transition to mitosis. [provided by RefSeq, Aug 2013]
ZCCHC10	chr5	132996985	133026604	-	ENSG00000155329.11	protein_coding	-	5q31.1	zinc finger CCHC-type containing 10	Ubiquitous expression in lymph node (RPKM 8.3), testis (RPKM 8.2) and 25 other tissues
ZCCHC14	chr16	87406246	87492045	-	ENSG00000140948.11	protein_coding	BDG-29|BDG29	16q24.2	zinc finger CCHC-type containing 14	Broad expression in testis (RPKM 26.9), ovary (RPKM 7.6) and 24 other tissues
ZCCHC17	chr1	31296982	31364953	+	ENSG00000121766.15	protein_coding	HSPC251|PS1D|pNO40	1p35.2	zinc finger CCHC-type containing 17	Ubiquitous expression in heart (RPKM 23.1), brain (RPKM 18.8) and 24 other tissues
ZCCHC2	chr18	62523007	62587709	+	ENSG00000141664.9	protein_coding	C18orf49	18q21.33	zinc finger CCHC-type containing 2	Ubiquitous expression in testis (RPKM 5.7), salivary gland (RPKM 5.3) and 25 other tissues
ZCCHC24	chr10	79382325	79445627	-	ENSG00000165424.6	protein_coding	C10orf56|Z3CXXC8	10q22.3	zinc finger CCHC-type containing 24	Ubiquitous expression in brain (RPKM 26.2), fat (RPKM 23.1) and 23 other tissues
ZCCHC3	chr20	296968	300321	+	ENSG00000247315.3	protein_coding	C20orf99	20p13	zinc finger CCHC-type containing 3	-
ZCCHC4	chr4	25312785	25370383	+	ENSG00000168228.14	protein_coding	HSPC052|ZGRF4	4p15.2	zinc finger CCHC-type containing 4	Ubiquitous expression in testis (RPKM 1.4), ovary (RPKM 1.3) and 25 other tissues
ZCCHC7	chr9	37120539	37358149	+	ENSG00000147905.17	protein_coding	AIR1|HSPC086	9p13.2	zinc finger CCHC-type containing 7	Ubiquitous expression in lymph node (RPKM 3.6), testis (RPKM 2.2) and 25 other tissues
ZCCHC8	chr12	122471600	122501073	-	ENSG00000033030.13	protein_coding	PFBMFT5	12q24.31	zinc finger CCHC-type containing 8	This gene encodes a scaffold protein which serves as an assessory factor to the nuclear RNA exosome complex. The encoded protein forms a trimeric human nuclear exosome targeting (NEXT) complex, together with hMTR4 and the RNA-binding factor RBM7 which promotes the exosomal degradation of non-coding promoter-upstream transcripts, enhancer RNAs and 3-extended products of histone- and small nuclear RNA transcription. This complex is also thought to recruit the exosome to degrade intronic RNAs via its interaction with both the exosome and the spliceosome. It contains both an N-terminal zinc-knuckle domain and a C-terminal proline-rich domain. [provided by RefSeq, Apr 2017]
ZCCHC9	chr5	81301590	81313297	+	ENSG00000131732.11	protein_coding	PPP1R41	5q14.1	zinc finger CCHC-type containing 9	Ubiquitous expression in placenta (RPKM 8.9), appendix (RPKM 8.7) and 25 other tissues
ZCRB1	chr12	42312078	42326118	-	ENSG00000139168.7	protein_coding	MADP-1|MADP1|RBM36|SNRNP31|ZCCHC19	12q12	zinc finger CCHC-type and RNA binding motif containing 1	Pre-mRNA splicing is catalyzed by the spliceosome. U12-type spliceosome binds U12-type pre-mRNAs and recognizes the 5 splice site and branch-point sequence. U11 and U12 snRNPs are components of U12-type spliceosome and function as a molecular bridge connecting both ends of the intron. The protein encoded by this gene contains a RNA recognition motif. It was identified as one of the protein components of U11/U12 snRNPs. This protein and many other U11/U12 snRNP proteins are highly conserved in organisms known to contain U12-type introns. These proteins have been shown to be essential for cell viability, suggesting the key roles in U12-type splicing. [provided by RefSeq, Jul 2008]
ZCWPW1	chr7	100400826	100428992	-	ENSG00000078487.17	protein_coding	ZCW1	7q22.1	zinc finger CW-type and PWWP domain containing 1	Broad expression in testis (RPKM 25.2), thyroid (RPKM 2.9) and 16 other tissues
ZCWPW2	chr3	28349146	28538122	+	ENSG00000206559.7	protein_coding	ZCW2	3p24.1	zinc finger CW-type and PWWP domain containing 2	Broad expression in testis (RPKM 1.3), fat (RPKM 0.5) and 25 other tissues
ZDBF2	chr2	206274663	206314428	+	ENSG00000204186.7	protein_coding	Slx9	2q33.3	zinc finger DBF-type containing 2	This gene encodes a protein containing DBF4-type zinc finger domains. This gene is imprinted and paternally expressed in lymphocytes but is more stochastically expressed in the placenta. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
ZDHHC1	chr16	67394419	67416833	-	ENSG00000159714.10	protein_coding	C16orf1|DHHC-1|HSU90653|ZNF377	16q22.1	zinc finger DHHC-type containing 1	Ubiquitous expression in ovary (RPKM 6.2), testis (RPKM 6.1) and 24 other tissues
ZDHHC11	chr5	795606	850986	-	ENSG00000188818.12	protein_coding	ZNF399	5p15.33	zinc finger DHHC-type containing 11	Broad expression in lung (RPKM 2.8), duodenum (RPKM 2.5) and 24 other tissues
ZDHHC11B	chr5	710360	766952	-	ENSG00000206077.10	protein_coding	DHHC-11B	5p15.33	zinc finger DHHC-type containing 11B	Broad expression in lung (RPKM 4.3), brain (RPKM 3.1) and 23 other tissues
ZDHHC12	chr9	128720869	128724127	-	ENSG00000160446.18	protein_coding	DHHC-12|ZNF400	9q34.11	zinc finger DHHC-type palmitoyltransferase 12	Ubiquitous expression in colon (RPKM 15.2), stomach (RPKM 13.4) and 25 other tissues
ZDHHC13	chr11	19117099	19176422	+	ENSG00000177054.13	protein_coding	HIP14L|HIP3RP	11p15.1	zinc finger DHHC-type palmitoyltransferase 13	Predicted to enable magnesium ion transmembrane transporter activity and palmitoyltransferase activity. Involved in positive regulation of I-kappaB kinase/NF-kappaB signaling. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
ZDHHC14	chr6	157381133	157678146	+	ENSG00000175048.16	protein_coding	NEW1CP	6q25.3	zinc finger DHHC-type palmitoyltransferase 14	Ubiquitous expression in brain (RPKM 2.5), endometrium (RPKM 2.3) and 24 other tissues
ZDHHC16	chr10	97446131	97457370	+	ENSG00000171307.18	protein_coding	APH2|DHHC-16	10q24.1	zinc finger DHHC-type palmitoyltransferase 16	Enables palmitoyltransferase activity. Involved in protein palmitoylation. Predicted to be located in endoplasmic reticulum membrane. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]
ZDHHC17	chr12	76763588	76853696	+	ENSG00000186908.14	protein_coding	DHHC-17|DHHC17|HIP14|HIP3|HSPC294|HYPH	12q21.2	zinc finger DHHC-type palmitoyltransferase 17	Ubiquitous expression in brain (RPKM 20.0), endometrium (RPKM 12.2) and 25 other tissues
ZDHHC18	chr1	26826710	26857602	+	ENSG00000204160.11	protein_coding	DHHC-18|DHHC18	1p36.11	zinc finger DHHC-type palmitoyltransferase 18	Ubiquitous expression in bone marrow (RPKM 36.8), appendix (RPKM 14.1) and 24 other tissues
ZDHHC19	chr3	196197449	196211437	-	ENSG00000163958.13	protein_coding	DHHC19	3q29	zinc finger DHHC-type palmitoyltransferase 19	Restricted expression toward testis (RPKM 16.0)
ZDHHC2	chr8	17156029	17224799	+	ENSG00000104219.12	protein_coding	DHHC2|ZNF372	8p22	zinc finger DHHC-type palmitoyltransferase 2	Ubiquitous expression in thyroid (RPKM 18.6), adrenal (RPKM 10.6) and 24 other tissues
ZDHHC20	chr13	21372573	21459370	-	ENSG00000180776.15	protein_coding	4933421L13Rik|DHHC-20|DHHC20	13q12.11	zinc finger DHHC-type palmitoyltransferase 20	Ubiquitous expression in stomach (RPKM 21.2), urinary bladder (RPKM 18.5) and 25 other tissues
ZDHHC20-IT1	chr13	21376977	21377874	-	ENSG00000236953.1	sense_intronic	-	13q12.11	ZDHHC20 intronic transcript 1	-
ZDHHC20P1	chr6	29708125	29708547	-	ENSG00000233916.1	processed_pseudogene	-	6p22.1	zinc finger DHHC-type containing 20 pseudogene 1	-
ZDHHC20P4	chr13	68985058	68986064	+	ENSG00000232380.1	processed_pseudogene	-	13q21.33	zinc finger DHHC-type containing 20 pseudogene 4	-
ZDHHC21	chr9	14611071	14693471	-	ENSG00000175893.11	protein_coding	DHHC-21|DHHC21|DNZ1|HSPC097	9p22.3	zinc finger DHHC-type palmitoyltransferase 21	Ubiquitous expression in brain (RPKM 3.1), skin (RPKM 2.5) and 25 other tissues
ZDHHC23	chr3	113947901	113965401	+	ENSG00000184307.14	protein_coding	DHHC-23|NIDD	3q13.31	zinc finger DHHC-type palmitoyltransferase 23	Broad expression in testis (RPKM 5.9), colon (RPKM 3.9) and 24 other tissues
ZDHHC24	chr11	66520637	66546238	-	ENSG00000174165.7	protein_coding	-	11q13.2	zinc finger DHHC-type containing 24	-
ZDHHC3	chr3	44915257	44976185	-	ENSG00000163812.13	protein_coding	DHHC-3|DHHC3|GODZ|ZNF373	3p21.31	zinc finger DHHC-type palmitoyltransferase 3	Ubiquitous expression in testis (RPKM 9.5), skin (RPKM 8.8) and 25 other tissues
ZDHHC4	chr7	6577434	6589374	+	ENSG00000136247.14	protein_coding	ZNF374	7p22.1	zinc finger DHHC-type palmitoyltransferase 4	Ubiquitous expression in thyroid (RPKM 21.7), testis (RPKM 20.1) and 25 other tissues
ZDHHC5	chr11	57667747	57701187	+	ENSG00000156599.10	protein_coding	DHHC5|ZNF375	11q12.1	zinc finger DHHC-type palmitoyltransferase 5	Ubiquitous expression in esophagus (RPKM 30.1), thyroid (RPKM 23.7) and 25 other tissues
ZDHHC6	chr10	112424428	112446917	-	ENSG00000023041.11	protein_coding	DHHC-6|DHHC6|ZNF376	10q25.2	zinc finger DHHC-type palmitoyltransferase 6	Ubiquitous expression in small intestine (RPKM 19.0), duodenum (RPKM 17.1) and 25 other tissues
ZDHHC7	chr16	84974181	85011535	-	ENSG00000153786.12	protein_coding	DHHC7|SERZ-B|SERZ1|ZNF370	16q24.1	zinc finger DHHC-type palmitoyltransferase 7	Ubiquitous expression in bone marrow (RPKM 20.6), lung (RPKM 20.0) and 25 other tissues
ZDHHC8	chr22	20129456	20148007	+	ENSG00000099904.15	protein_coding	DHHC8|ZDHHCL1|ZNF378	22q11.21	zinc finger DHHC-type palmitoyltransferase 8	This gene encodes a four transmembrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein may function as a palmitoyltransferase. Defects in this gene may be associated with a susceptibility to schizophrenia. Alternate splicing of this gene results in multiple transcript variants. A pseudogene of this gene is found on chromosome 22.[provided by RefSeq, May 2010]
ZEB1	chr10	31318495	31529814	+	ENSG00000148516.21	protein_coding	AREB6|BZP|DELTAEF1|FECD6|NIL2A|PPCD3|TCF8|ZFHEP|ZFHX1A	10p11.22	zinc finger E-box binding homeobox 1	This gene encodes a zinc finger transcription factor. The encoded protein likely plays a role in transcriptional repression of interleukin 2. Mutations in this gene have been associated with posterior polymorphous corneal dystrophy-3 and late-onset Fuchs endothelial corneal dystrophy. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2010]
ZEB2	chr2	144364364	144524583	-	ENSG00000169554.18	protein_coding	HSPC082|SIP-1|SIP1|SMADIP1|ZFHX1B	2q22.3	zinc finger E-box binding homeobox 2	The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010]
ZEB2-AS1	chr2	144518097	144521477	+	ENSG00000238057.8	antisense	ZEB2-AS|ZEB2AS|ZEB2NAT	2q22.3	ZEB2 antisense RNA 1	This gene produces a spliced long non-coding RNA which is a natural antisense transcript corresponding to the 5 UTR of zinc finger E-box binding homeobox 2 (ZEB2). It is thought that this transcript may be involved in the regulation of ZEB2 expression, and may play a role in the progression of bladder cancer. [provided by RefSeq, Aug 2015]
ZER1	chr9	128729786	128772414	-	ENSG00000160445.10	protein_coding	C9orf60|ZYG|ZYG11BL	9q34.11	zyg-11 related cell cycle regulator	This gene encodes a subunit of an E3 ubiquitin ligase complex that may be involved in meiosis. The encoded protein contains three leucine-rich repeat motifs. [provided by RefSeq, Nov 2012]
ZFAND1	chr8	81701334	81732903	-	ENSG00000104231.10	protein_coding	-	8q21.13	zinc finger AN1-type containing 1	-
ZFAND2A	chr7	1152071	1160759	-	ENSG00000178381.11	protein_coding	AIRAP	7p22.3	zinc finger AN1-type containing 2A	Ubiquitous expression in bone marrow (RPKM 5.6), liver (RPKM 4.6) and 25 other tissues
ZFAND2B	chr2	219195237	219209651	+	ENSG00000158552.12	protein_coding	AIRAPL	2q35	zinc finger AN1-type containing 2B	This gene encodes a protein containing AN1-type zinc-fingers and ubiquitin-interacting motifs. The encoded protein likely associates with the proteosome to stimulate the degradation of toxic or misfolded proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
ZFAND3	chr6	37819499	38154624	+	ENSG00000156639.11	protein_coding	TEX27	6p21.2	zinc finger AN1-type containing 3	Ubiquitous expression in testis (RPKM 29.7), thyroid (RPKM 22.9) and 25 other tissues
ZFAND4	chr10	45615501	45672780	-	ENSG00000172671.19	protein_coding	ANUBL1	10q11.22	zinc finger AN1-type containing 4	Biased expression in testis (RPKM 26.4), lymph node (RPKM 2.8) and 9 other tissues
ZFAND5	chr9	72351425	72365235	-	ENSG00000107372.12	protein_coding	ZA20D2|ZFAND5A|ZNF216	9q21.13	zinc finger AN1-type containing 5	Ubiquitous expression in fat (RPKM 113.8), adrenal (RPKM 84.6) and 25 other tissues
ZFAND6	chr15	80059568	80138393	+	ENSG00000086666.18	protein_coding	AWP1|ZA20D3|ZFAND5B	15q25.1	zinc finger AN1-type containing 6	Predicted to enable polyubiquitin modification-dependent protein binding activity. Involved in cellular response to tumor necrosis factor; negative regulation of apoptotic process; and regulation of I-kappaB kinase/NF-kappaB signaling. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
ZFAS1	chr20	49278178	49295738	+	ENSG00000177410.12	antisense	C20orf199|HSUP1|HSUP2|NCRNA00275|ZNFX1-AS1	20q13.13	ZNFX1 antisense RNA 1	This gene represents a snoRNA host gene that produces a non-coding RNA. Increased expression or amplification of this locus is associated with cancer progression and metastasis. This transcript regulates expression of genes involved in differentiation. It may act a molecular sponge for microRNAs. Alternatively spliced transcript variants have been observed. [provided by RefSeq, Dec 2017]
ZFAT	chr8	134477788	134713049	-	ENSG00000066827.15	protein_coding	AITD3|ZFAT1|ZNF406	8q24.22	zinc finger and AT-hook domain containing	This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]
ZFAT-AS1	chr8	134598071	134600689	+	ENSG00000248492.1	antisense	NCRNA00070|SAS-ZFAT|ZFAT-AS|ZFATAS	8q24.22	ZFAT antisense RNA 1	This gene encodes a small antisense RNA that may be involved in regulating the sense strand locus, zinc finger and AT hook domain containing. This RNA may play a role in B cell function. A single nucleotide polymorphism in the promoter of this gene is associated with an increased risk of autoimmune thyroid disease.[provided by RefSeq, Jan 2010]
ZFC3H1	chr12	71609472	71667725	-	ENSG00000133858.15	protein_coding	CCDC131|CSRC2|PSRC2	12q21.1	zinc finger C3H1-type containing	Ubiquitous expression in lymph node (RPKM 12.9), testis (RPKM 11.4) and 25 other tissues
ZFHX2	chr14	23520855	23556192	-	ENSG00000136367.13	protein_coding	MARSIS|ZFH-5|ZFH5|ZNF409	14q11.2	zinc finger homeobox 2	Biased expression in testis (RPKM 3.0), brain (RPKM 0.7) and 5 other tissues
ZFHX3	chr16	72782885	73059698	-	ENSG00000140836.14	protein_coding	ATBF1|ATBT|C16orf47|ZFH-3|ZNF927	16q22.2-q22.3	zinc finger homeobox 3	This gene encodes a transcription factor with multiple homeodomains and zinc finger motifs, and regulates myogenic and neuronal differentiation. The encoded protein suppresses expression of the alpha-fetoprotein gene by binding to an AT-rich enhancer motif. The protein has also been shown to negatively regulate c-Myb, and transactivate the cell cycle inhibitor cyclin-dependent kinase inhibitor 1A (also known as p21CIP1). This gene is reported to function as a tumor suppressor in several cancers, and sequence variants of this gene are also associated with atrial fibrillation. Multiple transcript variants expressed from alternate promoters and encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
ZFHX4	chr8	76681219	76867285	+	ENSG00000091656.15	protein_coding	ZFH4|ZHF4	8q21.13	zinc finger homeobox 4	Broad expression in testis (RPKM 2.1), adrenal (RPKM 2.1) and 16 other tissues
ZFHX4-AS1	chr8	76491200	76683278	-	ENSG00000253661.1	antisense	-	8q21.13	ZFHX4 antisense RNA 1	-
ZFP1	chr16	75148492	75172236	+	ENSG00000184517.11	protein_coding	ZNF475	16q23.1	ZFP1 zinc finger protein	This gene belongs to the zinc finger protein family. Some members of this family bind to DNA by zinc-mediated secondary structures called zinc fingers, and are involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
ZFP14	chr19	36334453	36379199	-	ENSG00000142065.13	protein_coding	ZNF531	19q13.12	ZFP14 zinc finger protein	Ubiquitous expression in thyroid (RPKM 2.2), endometrium (RPKM 1.7) and 25 other tissues
ZFP28	chr19	56538948	56556810	+	ENSG00000196867.7	protein_coding	mkr5	19q13.43	ZFP28 zinc finger protein	Ubiquitous expression in ovary (RPKM 2.5), brain (RPKM 2.0) and 24 other tissues
ZFP3	chr17	5078248	5096374	+	ENSG00000180787.5	protein_coding	ZNF752	17p13.2	ZFP3 zinc finger protein	Ubiquitous expression in thyroid (RPKM 4.0), duodenum (RPKM 3.8) and 24 other tissues
ZFP30	chr19	37613749	37692337	-	ENSG00000120784.15	protein_coding	ZNF745	19q13.12	ZFP30 zinc finger protein	Ubiquitous expression in testis (RPKM 2.7), thyroid (RPKM 2.4) and 25 other tissues
ZFP36	chr19	39406813	39409412	+	ENSG00000128016.5	protein_coding	G0S24|GOS24|NUP475|RNF162A|TIS11|TTP|zfp-36	19q13.2	ZFP36 ring finger protein	Ubiquitous expression in gall bladder (RPKM 274.6), bone marrow (RPKM 248.5) and 25 other tissues
ZFP36L1	chr14	68787660	68796253	-	ENSG00000185650.9	protein_coding	BRF1|Berg36|ERF-1|ERF1|RNF162B|TIS11B|cMG1	14q24.1	ZFP36 ring finger protein like 1	This gene is a member of the TIS11 family of early response genes, which are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. This gene is well conserved across species and has a promoter that contains motifs seen in other early-response genes. The encoded protein contains a distinguishing putative zinc finger domain with a repeating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
ZFP36L2	chr2	43222402	43226609	-	ENSG00000152518.7	protein_coding	BRF2|ERF-2|ERF2|RNF162C|TIS11D	2p21	ZFP36 ring finger protein like 2	This gene is a member of the TIS11 family of early response genes. Family members are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. The encoded protein contains a distinguishing putative zinc finger domain with a repeating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors. [provided by RefSeq, Jul 2008]
ZFP37	chr9	113038380	113056759	-	ENSG00000136866.13	protein_coding	ZNF906|zfp-37	9q32	ZFP37 zinc finger protein	This gene encodes a transcription factor that belongs to a large family of zinc finger proteins. A similar protein in mouse is thought to play a role in regulating the structures of the nucleolus and centromere in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
ZFP41	chr8	143246821	143262705	+	ENSG00000181638.17	protein_coding	ZNF753|zfp-41	8q24.3	ZFP41 zinc finger protein	Ubiquitous expression in testis (RPKM 2.9), ovary (RPKM 2.1) and 25 other tissues
ZFP57	chr6	29672392	29681110	-	ENSG00000204644.9	protein_coding	C6orf40|TNDM1|ZNF698|bA145L22|bA145L22.2	6p22.1	ZFP57 zinc finger protein	The protein encoded by this gene is a zinc finger protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor. Mutations in this gene have been associated with transient neonatal diabetes mellitus type 1 (TNDM1).[provided by RefSeq, Sep 2009]
ZFP62	chr5	180847611	180861285	-	ENSG00000196670.13	protein_coding	ZET|ZNF755	5q35.3	ZFP62 zinc finger protein	Note: Annotation of ZFP62 was placed on AC016572.6 on NCBIs annotation 36.3.  This clone has been determined to be redundant, so the annotation was merged with the location on the assembled chromosome. [02 Mar 2009]
ZFP64	chr20	52051663	52204308	-	ENSG00000020256.19	protein_coding	ZNF338	20q13.2	ZFP64 zinc finger protein	Ubiquitous expression in testis (RPKM 2.7), ovary (RPKM 2.2) and 25 other tissues
ZFP69	chr1	40477215	40496343	+	ENSG00000187815.9	protein_coding	ZFP69A|ZKSCAN23A|ZNF642|ZSCAN54A	1p34.2	ZFP69 zinc finger protein	Ubiquitous expression in testis (RPKM 2.2), spleen (RPKM 1.5) and 25 other tissues
ZFP69B	chr1	40450102	40463718	+	ENSG00000187801.14	protein_coding	ZKSCAN23B|ZNF643|ZSCAN54B	1p34.2	ZFP69 zinc finger protein B	Ubiquitous expression in brain (RPKM 1.6), appendix (RPKM 1.1) and 25 other tissues
ZFP82	chr19	36383120	36418656	-	ENSG00000181007.8	protein_coding	ZNF545	19q13.12	ZFP82 zinc finger protein	Ubiquitous expression in thyroid (RPKM 1.5), brain (RPKM 1.3) and 24 other tissues
ZFP90	chr16	68530090	68576072	+	ENSG00000184939.15	protein_coding	FIK|NK10|ZNF756|zfp-90	16q22.1	ZFP90 zinc finger protein	This gene encodes a member of the zinc finger protein family that modulates gene expression. The encoded protein derepresses the transcription of certain fetal cardiac genes and may contribute to the genetic reprogramming that occurs during the development of heart failure. Genome wide association studies have identified this gene among ulcerative colitis risk loci. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2015]
ZFP91	chr11	58579111	58621042	+	ENSG00000186660.14	protein_coding	DMS-8|DSM-8|DSM8|FKSG11|PZF|ZFP-91|ZNF757	11q12.1	ZFP91 zinc finger protein, atypical E3 ubiquitin ligase	The protein encoded by this gene is a member of the zinc finger family of proteins. The gene product contains C2H2-type domains, which are the classical zinc finger domains found in numerous nucleic acid-binding proteins. This protein functions as a regulator of the non-canonical NF-kappaB pathway in lymphotoxin-beta receptor signaling. Alternative splicing results in multiple transcript variants. A read-through transcript variant composed of ZFP91 and the downstream CNTF gene sequence has been identified, but it is thought to be non-coding. Read-through transcription of ZFP91 and CNTF has also been observed in mouse. A ZFP91-related pseudogene has also been identified on chromosome 2. [provided by RefSeq, Oct 2010]
ZFPL1	chr11	65084223	65088400	+	ENSG00000162300.11	protein_coding	D11S750|MCG4	11q13.1	zinc finger protein like 1	Ubiquitous expression in testis (RPKM 12.5), ovary (RPKM 11.1) and 25 other tissues
ZFPM1	chr16	88453317	88537016	+	ENSG00000179588.8	protein_coding	FOG|FOG1|ZC2HC11A|ZNF408|ZNF89A	16q24.2	zinc finger protein, FOG family member 1	Broad expression in stomach (RPKM 2.3), duodenum (RPKM 1.0) and 20 other tissues
ZFPM2	chr8	104590733	105804532	+	ENSG00000169946.13	protein_coding	DIH3|FOG2|SRXY9|ZC2HC11B|ZNF89B|hFOG-2	8q23.1	zinc finger protein, FOG family member 2	The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008]
ZFR	chr5	32354350	32444761	-	ENSG00000056097.15	protein_coding	SPG71|ZFR1	5p13.3	zinc finger RNA binding protein	This gene encodes an RNA-binding protein characterized by its DZF (domain associated with zinc fingers) domain. The encoded protein may play a role in the nucleocytoplasmic shuttling of another RNA-binding protein, Staufen homolog 2, in neurons. Expression of this gene is regulated through alternative polyadenylation that mediates differential microRNA targeting. Elevated expression of this gene has been observed in human patients with pancreatic cancer and knockdown of this gene may result in reduced viability and invasion of pancreatic cancer cells. [provided by RefSeq, Sep 2016]
ZFR2	chr19	3804024	3869032	-	ENSG00000105278.10	protein_coding	KIAA1086	19p13.3	zinc finger RNA binding protein 2	Biased expression in testis (RPKM 2.0), brain (RPKM 1.5) and 1 other tissue
ZFTA	chr11	 63759892	63768775	-	ENSG00000188070	protein-coding	C11orf95	11q13.1	zinc finger translocation associated	-
ZFYVE1	chr14	72969451	73027212	-	ENSG00000165861.13	protein_coding	DFCP1|PPP1R172|SR3|TAFF1|ZNFN2A1	14q24.2	zinc finger FYVE-type containing 1	The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate-containing membranes. This protein contains two zinc-binding FYVE domains in tandem and is reported to localize to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
ZFYVE16	chr5	80408013	80479350	+	ENSG00000039319.16	protein_coding	PPP1R69	5q14.1	zinc finger FYVE-type containing 16	This gene encodes an endosomal protein that belongs to the FYVE zinc finger family of proteins. The encoded protein is thought to regulate membrane trafficking in the endosome. This protein functions as a scaffold protein in the transforming growth factor-beta signaling pathway and is involved in positive and negative feedback regulation of the bone morphogenetic protein signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
ZFYVE19	chr15	40807086	40815084	+	ENSG00000166140.17	protein_coding	ANCHR|MPFYVE	15q15.1	zinc finger FYVE-type containing 19	Ubiquitous expression in duodenum (RPKM 6.2), small intestine (RPKM 6.1) and 25 other tissues
ZFYVE21	chr14	103715730	103733668	+	ENSG00000100711.13	protein_coding	HCVP7TP1|ZF21	14q32.33	zinc finger FYVE-type containing 21	Ubiquitous expression in fat (RPKM 36.0), endometrium (RPKM 31.2) and 25 other tissues
ZFYVE26	chr14	67727374	67816590	-	ENSG00000072121.15	protein_coding	FYVE-CENT|SPG15	14q24.1	zinc finger FYVE-type containing 26	This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these proteins to membrane lipids through interaction with phospholipids in the membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. [provided by RefSeq, Oct 2008]
ZFYVE27	chr10	97737121	97760907	+	ENSG00000155256.17	protein_coding	PROTRUDIN|SPG33	10q24.2	zinc finger FYVE-type containing 27	This gene encodes a protein with several transmembrane domains, a Rab11-binding domain and a lipid-binding FYVE finger domain. The encoded protein appears to promote neurite formation. A mutation in this gene has been reported to be associated with hereditary spastic paraplegia, however the pathogenicity of the mutation, which may simply represent a polymorphism, is unclear. [provided by RefSeq, Mar 2010]
ZFYVE28	chr4	2269582	2418663	-	ENSG00000159733.13	protein_coding	LST2|LYST2|lst-2	4p16.3	zinc finger FYVE-type containing 28	Ubiquitous expression in testis (RPKM 1.1), brain (RPKM 1.1) and 25 other tissues
ZFYVE9	chr1	52142094	52346686	+	ENSG00000157077.14	protein_coding	MADHIP|NSP|PPP1R173|SARA|SMADIP	1p32.3	zinc finger FYVE-type containing 9	This gene encodes a double zinc finger motif-containing protein that participates in the transforming growth factor-beta (TGFB) signalling pathway. The encoded protein interacts directly with SMAD2 and SMAD3, and recruits SMAD2 to the TGFB receptor. There are multiple pseudogenes for this gene on chromosomes 2, 15, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
ZG16	chr16	29778240	29782973	+	ENSG00000174992.7	protein_coding	JCLN|JCLN1|ZG16A	16p11.2	zymogen granule protein 16	Biased expression in colon (RPKM 333.1), small intestine (RPKM 82.8) and 1 other tissue
ZG16B	chr16	2830169	2839585	+	ENSG00000162078.11	protein_coding	EECP|HRPE773|JCLN2|PAUF|PRO1567	16p13.3	zymogen granule protein 16B	Restricted expression toward salivary gland (RPKM 15006.7)
ZGLP1	chr19	10304803	10309880	-	ENSG00000220201.7	protein_coding	GATAD3|GLP-1|GLP1	19p13.2	zinc finger GATA like protein 1	Ubiquitous expression in testis (RPKM 1.4), spleen (RPKM 0.9) and 25 other tissues
ZGPAT	chr20	63707465	63736142	+	ENSG00000197114.11	protein_coding	GPATC6|GPATCH6|KIAA1847|ZC3H9|ZC3HDC9|ZIP	20q13.33	zinc finger CCCH-type and G-patch domain containing	Ubiquitous expression in liver (RPKM 22.1), kidney (RPKM 17.5) and 25 other tissues
ZHX2	chr8	122781394	122974512	+	ENSG00000178764.7	protein_coding	AFR1|RAF	8q24.13	zinc fingers and homeoboxes 2	The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 2 of this gene family. In addition to forming homodimers, this protein heterodimerizes with member 1 of the zinc fingers and homeoboxes family. [provided by RefSeq, Jul 2008]
ZHX3	chr20	41178448	41317672	-	ENSG00000174306.21	protein_coding	TIX1	20q12	zinc fingers and homeoboxes 3	This gene encodes a member of the zinc fingers and homeoboxes (ZHX) gene family. The encoded protein contains two C2H2-type zinc fingers and five homeodomains and forms a dimer with itself or with zinc fingers and homeoboxes family member 1. In the nucleus, the dimerized protein interacts with the A subunit of the ubiquitous transcription factor nuclear factor-Y and may function as a transcriptional repressor. [provided by RefSeq, Jul 2008]
ZIC1	chr3	147393422	147510293	+	ENSG00000152977.9	protein_coding	BAIDCS|CRS6|ZIC|ZNF201	3q24	Zic family member 1	This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. Members of this family are important during development. Aberrant expression of this gene is seen in medulloblastoma, a childhood brain tumor. This gene is closely linked to the gene encoding zinc finger protein of the cerebellum 4, a related family member on chromosome 3. This gene encodes a transcription factor that can bind and transactivate the apolipoprotein E gene. [provided by RefSeq, Jul 2008]
ZIC2	chr13	99981772	99986773	+	ENSG00000043355.11	protein_coding	HPE5	13q32.3	Zic family member 2	This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Expansion of an alanine repeat in the C-terminus of the encoded protein and other mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. [provided by RefSeq, Jul 2016]
ZIC4	chr3	147386046	147406860	-	ENSG00000174963.17	protein_coding	-	3q24	Zic family member 4	Low expression observed in reference dataset
ZIC4-AS1	chr3	147386967	147387453	+	ENSG00000241202.1	antisense	-	3q24	ZIC4 antisense RNA 1	-
ZKSCAN1	chr7	100015572	100041689	+	ENSG00000106261.16	protein_coding	KOX18|PHZ-37|ZNF139|ZNF36|ZSCAN33	7q22.1	zinc finger with KRAB and SCAN domains 1	This gene encodes a member of the Kruppel C2H2-type zinc-finger family of proteins. This encoded protein may function as a transcription factor that regulates the expression of GABA type-A receptors in the brain. Transcripts from this gene have been shown to form stable and abundant circular RNAs. Elevated expression of this gene has been observed in gastric cancer and the encoded protein may stimulate migration and invasion of human gastric cancer cells. [provided by RefSeq, Oct 2016]
ZKSCAN2	chr16	25236001	25257931	-	ENSG00000155592.15	protein_coding	ZNF694|ZSCAN31|ZSCAN34	16p12.1	zinc finger with KRAB and SCAN domains 2	Broad expression in testis (RPKM 3.7), ovary (RPKM 2.1) and 24 other tissues
ZKSCAN3	chr6	28349914	28369177	+	ENSG00000189298.13	protein_coding	ZF47|ZFP306|ZNF306|ZNF309|ZSCAN13|ZSCAN35|Zfp47|dJ874C20.1|dJ874C20.1.|zfp-47	6p22.1	zinc finger with KRAB and SCAN domains 3	Ubiquitous expression in thyroid (RPKM 1.5), ovary (RPKM 1.5) and 25 other tissues
ZKSCAN4	chr6	28244623	28252224	-	ENSG00000187626.8	protein_coding	P1P373C6|ZNF307|ZNF427|ZSCAN36	6p22.1	zinc finger with KRAB and SCAN domains 4	Ubiquitous expression in testis (RPKM 2.9), spleen (RPKM 2.1) and 24 other tissues
ZKSCAN5	chr7	99504651	99534700	+	ENSG00000196652.11	protein_coding	ZFP-95|ZFP95|ZNF914|ZSCAN37	7q22.1	zinc finger with KRAB and SCAN domains 5	This gene encodes a zinc finger protein of the Kruppel family. The protein contains a SCAN box and a KRAB A domain and may be involved in transcriptional regulation. A similar protein in mouse is differentially expressed in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
ZKSCAN7	chr3	44555193	44594173	+	ENSG00000196345.12	protein_coding	ZFP|ZNF167|ZNF448|ZNF64|ZSCAN39	3p21.31	zinc finger with KRAB and SCAN domains 7	Ubiquitous expression in ovary (RPKM 2.4), testis (RPKM 2.0) and 25 other tissues
ZKSCAN8	chr6	28141910	28159472	+	ENSG00000198315.10	protein_coding	LD5-1|ZNF192|ZSCAN40	6p22.1	zinc finger with KRAB and SCAN domains 8	Ubiquitous expression in endometrium (RPKM 9.3), ovary (RPKM 8.6) and 25 other tissues
ZKSCAN8P1	chr6	 28161761	28169595	+	ENSG00000226314	pseudogene	ZNF192P1|ZNF389|ZNF389P|dJ265C24.4	6p22.1	ZKSCAN8 pseudogene 1	-
ZKSCAN8P2	chr6	 28187938	28189411	+	ENSG00000218016	pseudogene	ZNF192P2	6p22.1	ZKSCAN8 pseudogene 2	-
ZMAT1	chrX	101882288	101932031	-	ENSG00000166432.14	protein_coding	-	Xq22.1	zinc finger matrin-type 1	Ubiquitous expression in thyroid (RPKM 9.8), ovary (RPKM 6.5) and 25 other tissues
ZMAT2	chr5	140698680	140706676	+	ENSG00000146007.10	protein_coding	Ptg-12|Snu23	5q31.3	zinc finger matrin-type 2	Ubiquitous expression in brain (RPKM 45.9), fat (RPKM 34.0) and 25 other tissues
ZMAT3	chr3	179017223	179072279	-	ENSG00000172667.10	protein_coding	PAG608|WIG-1|WIG1	3q26.32	zinc finger matrin-type 3	This gene encodes a protein containing three zinc finger domains and a nuclear localization signal. The mRNA and the protein of this gene are upregulated by wildtype p53 and overexpression of this gene inhibits tumor cell growth, suggesting that this gene may have a role in the p53-dependent growth regulatory pathway. Alternative splicing of this gene results in two transcript variants encoding two isoforms differing in only one amino acid. [provided by RefSeq, Jul 2008]
ZMAT4	chr8	40530590	40897833	-	ENSG00000165061.14	protein_coding	-	8p11.21	zinc finger matrin-type 4	-
ZMAT5	chr22	29730956	29767011	-	ENSG00000100319.12	protein_coding	SNRNP20|U11/U12-20K|ZC3H19	22q12.2	zinc finger matrin-type 5	Ubiquitous expression in adrenal (RPKM 7.7), lung (RPKM 7.3) and 25 other tissues
ZMIZ1	chr10	79069035	79316528	+	ENSG00000108175.16	protein_coding	MIZ|NEDDFSA|RAI17|TRAFIP10|ZIMP10	10q22.3	zinc finger MIZ-type containing 1	This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]
ZMIZ1-AS1	chr10	78943328	79067895	-	ENSG00000224596.7	antisense	-	10q22.3	ZMIZ1 antisense RNA 1	-
ZMIZ2	chr7	44748581	44769881	+	ENSG00000122515.14	protein_coding	NET27|TRAFIP20|ZIMP7|hZIMP7	7p13	zinc finger MIZ-type containing 2	ZMIZ2 and ZMIZ1 (MIM 607159) are members of a PIAS (see MIM 603566)-like family of proteins that interact with nuclear hormone receptors. ZMIZ2 interacts with androgen receptor (AR; MIM 313700) and enhances AR-mediated transcription (Huang et al., 2005 [PubMed 16051670]).[supplied by OMIM, May 2010]
ZMPSTE24	chr1	40258107	40294184	+	ENSG00000084073.8	protein_coding	FACE-1|FACE1|HGPS|PRO1|STE24|Ste24p	1p34.2	zinc metallopeptidase STE24	This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008]
ZMYM1	chr1	35059786	35115859	+	ENSG00000197056.9	protein_coding	MYM	1p34.3	zinc finger MYM-type containing 1	Predicted to enable protein dimerization activity and zinc ion binding activity. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
ZMYM4	chr1	35268967	35422058	+	ENSG00000146463.11	protein_coding	CDIR|MYM|ZNF198L3|ZNF262	1p34.3	zinc finger MYM-type containing 4	Predicted to enable DNA binding activity. Involved in cytoskeleton organization and regulation of cell morphogenesis. [provided by Alliance of Genome Resources, Apr 2022]
ZMYM5	chr13	19823482	19863636	-	ENSG00000132950.18	protein_coding	HSPC050|MYM|ZNF198L1|ZNF237	13q12.11	zinc finger MYM-type containing 5	Ubiquitous expression in testis (RPKM 10.0), gall bladder (RPKM 4.8) and 25 other tissues
ZMYM6	chr1	34986165	35031968	-	ENSG00000163867.16	protein_coding	Buster2|MYM|ZBED7|ZNF198L4|ZNF258	1p34.3	zinc finger MYM-type containing 6	Ubiquitous expression in spleen (RPKM 6.2), bone marrow (RPKM 5.8) and 25 other tissues
ZMYND10	chr3	50341110	50346852	-	ENSG00000004838.13	protein_coding	BLU|CILD22|DNAAF7|FLU	3p21.31	zinc finger MYND-type containing 10	This gene encodes a protein containing a MYND-type zinc finger domain that likely functions in assembly of the dynein motor. Mutations in this gene can cause primary ciliary dyskinesia. This gene is also considered a tumor suppressor gene and is often mutated, deleted, or hypermethylated and silenced in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
ZMYND12	chr1	42430329	42456267	-	ENSG00000066185.12	protein_coding	-	1p34.2	zinc finger MYND-type containing 12	-
ZMYND15	chr17	4740015	4746119	+	ENSG00000141497.13	protein_coding	SPGF14	17p13.2	zinc finger MYND-type containing 15	This gene encodes a MYND-containing zinc-binding protein with a nuclear localization sequence. A similar gene in mice has been shown to act as a testis-specific transcriptional repressor by recruiting histone deacetylase enzymes to regulate spatiotemporal expression of many haploid genes. This protein may play an important role in spermatogenesis. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]
ZMYND19	chr9	137582079	137590490	-	ENSG00000165724.5	protein_coding	MIZIP	9q34.3	zinc finger MYND-type containing 19	ZMYND19 is a MYND zinc finger domain-containing protein that binds to the C terminus of melanin-concentrating hormone receptor-1 (MCHR1; MIM 601751) (Bachner et al., 2002 [PubMed 12208518]), and to the N termini of alpha-tubulin (TUBA1; MIM 191110), and beta-tubulin (TUBB; MIM 191130) (Francke et al., 2005 [PubMed 16039987]).[supplied by OMIM, Mar 2008]
ZMYND8	chr20	47209214	47356889	-	ENSG00000101040.19	protein_coding	PRKCBP1|PRO2893|RACK7	20q13.12	zinc finger MYND-type containing 8	The protein encoded by this gene is a receptor for activated C-kinase (RACK) protein. The encoded protein has been shown to bind in vitro to activated protein kinase C beta I. In addition, this protein is a cutaneous T-cell lymphoma-associated antigen. Finally, the protein contains a bromodomain and two zinc fingers, and is thought to be a transcriptional regulator. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ZNF10	chr12	133130575	133159465	+	ENSG00000256223.5	protein_coding	KOX1	12q24.33	zinc finger protein 10	The protein encoded by this gene contains a C2H2 zinc finger, and has been shown to function as a transcriptional repressor. The Kruppel-associated box (KRAB) domain of this protein is found to be responsible for its transcriptional repression activity. RING finger containing protein TIF1 was reported to interact with the KRAB domain, and may serve as a mediator for the repression activity of this protein. [provided by RefSeq, Jul 2008]
ZNF100	chr19	21722766	21767628	-	ENSG00000197020.10	protein_coding	-	19p12	zinc finger protein 100	-
ZNF101	chr19	19668796	19683509	+	ENSG00000181896.11	protein_coding	HZF12	19p13.11	zinc finger protein 101	Zinc finger proteins (ZNFs), such as ZNF101, bind nucleic acids and perform many key functions, the most important of which is regulating transcription (summary by Bellefroid et al., 1993 [PubMed 8467795]). See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM, Nov 2010]
ZNF106	chr15	42412823	42491123	-	ENSG00000103994.16	protein_coding	SH3BP3|ZFP106|ZNF474	15q15.1	zinc finger protein 106	Broad expression in heart (RPKM 62.5), fat (RPKM 20.4) and 22 other tissues
ZNF107	chr7	64666083	64711582	+	ENSG00000196247.11	protein_coding	Y8|ZFD25|ZNF588|smap-7	7q11.21	zinc finger protein 107	This gene encodes a protein containing multiple C2H2-type zinc finger regions. Proteins containing zinc fingers may act as transcriptional regulators, but may also have other cellular functions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
ZNF112	chr19	44326555	44367217	-	ENSG00000062370.16	protein_coding	ZFP112|ZNF228	19q13.31	zinc finger protein 112	Ubiquitous expression in thyroid (RPKM 2.5), prostate (RPKM 2.2) and 24 other tissues
ZNF114	chr19	48270102	48287608	+	ENSG00000178150.9	protein_coding	-	19q13.33	zinc finger protein 114	-
ZNF117	chr7	64971776	65006684	-	ENSG00000152926.14	protein_coding	H-plk|HPF9	7q11.21	zinc finger protein 117	This gene encodes a protein containing multiple C2H2-type zinc finger motifs. Readthrough transcription occurs between this gene and the upstream endogenous retrovirus group 3 member 1 (ERV3-1) locus, and may result in additional transcript variants encoding the zinc finger protein. [provided by RefSeq, Jan 2017]
ZNF12	chr7	6688433	6706923	-	ENSG00000164631.18	protein_coding	GIOT-3|HZF11|KOX3|ZNF325	7p22.1	zinc finger protein 12	This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with eight C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in developmental control of gene expression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
ZNF121	chr19	9560353	9584533	-	ENSG00000197961.11	protein_coding	D19S204|ZHC32|ZNF20	19p13.2	zinc finger protein 121	Ubiquitous expression in bone marrow (RPKM 3.6), spleen (RPKM 3.1) and 25 other tissues
ZNF131	chr5	43065176	43192021	+	ENSG00000172262.11	protein_coding	ZBTB35|pHZ-10	5p12	zinc finger protein 131	Ubiquitous expression in testis (RPKM 10.2), bone marrow (RPKM 5.2) and 25 other tissues
ZNF132	chr19	58432814	58440222	-	ENSG00000131849.11	protein_coding	pHZ-12	19q13.43	zinc finger protein 132	Ubiquitous expression in thyroid (RPKM 3.7), ovary (RPKM 2.5) and 25 other tissues
ZNF135	chr19	58059239	58086310	+	ENSG00000176293.19	protein_coding	ZNF61|ZNF78L1|pHZ-17|pT3	19q13.43	zinc finger protein 135	Broad expression in ovary (RPKM 3.4), endometrium (RPKM 3.3) and 24 other tissues
ZNF136	chr19	12163064	12189881	+	ENSG00000196646.11	protein_coding	pHZ-20	19p13.2	zinc finger protein 136	This gene encodes a zinc finger protein containing a Kruppel-associated box (KRAB) A-box domain at its N-terminus, followed by fourteen contiguous C2H2 zinc finger domains and a degenerate zinc finger. The KRAB A-box showed weak transcriptional repressor activity in a reporter gene assay. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
ZNF138	chr7	64794388	64833681	+	ENSG00000197008.9	protein_coding	pHZ-32	7q11.21	zinc finger protein 138	Ubiquitous expression in brain (RPKM 2.7), testis (RPKM 2.2) and 25 other tissues
ZNF14	chr19	19710471	19733097	-	ENSG00000105708.8	protein_coding	GIOT-4|KOX6	19p13.11	zinc finger protein 14	The protein encoded by this gene contains a zinc finger and a Kruppel-associated box (KRAB) domain. KRAB domain is known to be involved in the transcriptional repression of a number of zinc finger proteins. [provided by RefSeq, Jul 2008]
ZNF140	chr12	133079838	133107544	+	ENSG00000196387.9	protein_coding	pHZ-39	12q24.33	zinc finger protein 140	Ubiquitous expression in thyroid (RPKM 3.0), testis (RPKM 2.6) and 25 other tissues
ZNF141	chr4	337814	384864	+	ENSG00000131127.13	protein_coding	D4S90|pHZ-44	4p16.3	zinc finger protein 141	The protein encoded by this gene is a zinc finger protein that may be a tumor suppressor. Defects in this gene have been associated with autosomal recessive postaxial polydactyly type A. [provided by RefSeq, Jan 2017]
ZNF142	chr2	218637916	218659655	-	ENSG00000115568.15	protein_coding	HA4654|NEDISHM|pHZ-49	2q35	zinc finger protein 142	The protein encoded by this gene belongs to the Kruppel family of C2H2-type zinc finger proteins. It contains 31 C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
ZNF143	chr11	9460319	9528524	+	ENSG00000166478.9	protein_coding	SBF|STAF|pHZ-1	11p15.4	zinc finger protein 143	Ubiquitous expression in testis (RPKM 5.8), lymph node (RPKM 4.3) and 25 other tissues
ZNF146	chr19	36214602	36238774	+	ENSG00000167635.11	protein_coding	OZF	19q13.12	zinc finger protein 146	Ubiquitous expression in thyroid (RPKM 20.8), endometrium (RPKM 19.9) and 25 other tissues
ZNF148	chr3	125225561	125375354	-	ENSG00000163848.19	protein_coding	BERF-1|BFCOL1|GDACCF|HT-BETA|ZBP-89|ZFP148|pHZ-52	3q21.2	zinc finger protein 148	The protein encoded by this gene is a member of the Kruppel family of zinc finger DNA binding proteins. The encoded protein activates transcription of the T-cell receptor and intestinal alkaline phosphatase genes but represses transcription of the ornithine decarboxylase, vimentin, gastrin, stomelysin, and enolase genes. Increased expression of this gene results in decreased patient survival rates from colorectal cancer, while mutations in this gene have been associated with global developmental delay, hypoplastic corpus callosum, and dysmorphic facies. [provided by RefSeq, Feb 2017]
ZNF155	chr19	43967862	43998325	+	ENSG00000204920.10	protein_coding	pHZ-96	19q13.31	zinc finger protein 155	Ubiquitous expression in thyroid (RPKM 3.4), adrenal (RPKM 2.6) and 25 other tissues
ZNF16	chr8	144930358	144950888	-	ENSG00000170631.14	protein_coding	HZF1|KOX9	8q24.3	zinc finger protein 16	The protein encoded by this gene contains multiple tandem zinc finger motifs. The encoded protein is involved in the differentiation of erythroid and megakaryocytic cells. This gene is located in a cluster of related genes on chromosome 8 encoding zinc finger proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
ZNF160	chr19	53066606	53103436	-	ENSG00000170949.17	protein_coding	F11|HKr18|HZF5|KR18	19q13.41-q13.42	zinc finger protein 160	The protein encoded by this gene is a Kruppel-related zinc finger protein which is characterized by the presence of an N-terminal repressor domain, the Kruppel-associated box (KRAB). The KRAB domain is a potent repressor of transcription; thus this protein may function in transcription regulation. Multiple transcript variants have been found for this gene. [provided by RefSeq, Apr 2016]
ZNF165	chr6	28080975	28089563	+	ENSG00000197279.3	protein_coding	CT53|LD65|ZSCAN7	6p22.1	zinc finger protein 165	This gene encodes a member of the Kruppel family of zinc finger proteins. Members of this DNA-binding protein family act as transcriptional regulators. This gene is located within a cluster of zinc finger family members. The encoded protein may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]
ZNF169	chr9	94259311	94301454	+	ENSG00000175787.16	protein_coding	-	9q22.32	zinc finger protein 169	-
ZNF17	chr19	57411163	57421939	+	ENSG00000186272.12	protein_coding	HPF3|KOX10	19q13.43	zinc finger protein 17	Ubiquitous expression in thyroid (RPKM 2.0), ovary (RPKM 1.8) and 25 other tissues
ZNF174	chr16	3401235	3409370	+	ENSG00000103343.12	protein_coding	ZSCAN8	16p13.3	zinc finger protein 174	This gene encodes a protein with three Cys2-His2-type zinc fingers in the carboxy-terminus, a putative nuclear localization signal, and an amino-terminus SCAN box which forms homodimers. This protein is believed to function as a transcriptional repressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]
ZNF177	chr19	9363020	9382617	+	ENSG00000188629.11	protein_coding	PIGX	19p13.2	zinc finger protein 177	Broad expression in testis (RPKM 5.2), ovary (RPKM 3.1) and 21 other tissues
ZNF18	chr17	11977439	11997510	-	ENSG00000154957.13	protein_coding	HDSG1|KOX11|ZKSCAN6|ZNF535|ZSCAN38|Zfp535	17p12	zinc finger protein 18	Ubiquitous expression in testis (RPKM 3.9), bone marrow (RPKM 2.2) and 25 other tissues
ZNF180	chr19	44474428	44500524	-	ENSG00000167384.10	protein_coding	HHZ168	19q13.31	zinc finger protein 180	Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM, Jul 2002]
ZNF181	chr19	34734155	34745378	+	ENSG00000197841.14	protein_coding	HHZ181	19q13.11	zinc finger protein 181	Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM, Jul 2003]
ZNF184	chr6	27450743	27473118	-	ENSG00000096654.15	protein_coding	kr-ZNF3	6p22.1	zinc finger protein 184	The protein encoded by this gene is predicted to be a Kruppel C2H2-type zinc-finger protein family member. Sequence analysis predicts that the protein contains two Kruppel associated box (KRAB) boxes in the N-terminus and highly conserved zinc finger motifs at the C-terminus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]
ZNF189	chr9	101398873	101410660	+	ENSG00000136870.10	protein_coding	-	9q31.1	zinc finger protein 189	Ubiquitous expression in gall bladder (RPKM 12.4), fat (RPKM 10.6) and 25 other tissues
ZNF19	chr16	71464555	71565089	-	ENSG00000157429.15	protein_coding	KOX12	16q22.2	zinc finger protein 19	The protein encoded by this gene contains a zinc finger, a nucleic acid-binding domain present in many transcription factors. This gene is located in a region next to ZNF23, a gene also encoding a zinc finger protein, on chromosome 16. [provided by RefSeq, Jul 2008]
ZNF195	chr11	3339261	3379222	-	ENSG00000005801.16	protein_coding	HRF1|ZNFP104	11p15.4	zinc finger protein 195	This gene encodes a protein belonging to the Krueppel C2H2-type zinc-finger protein family. These family members are transcription factors that are implicated in a variety of cellular processes. This gene is located near the centromeric border of chromosome 11p15.5, next to an imprinted domain that is associated with maternal-specific loss of heterozygosity in Wilms tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
ZNF197	chr3	44584888	44648471	+	ENSG00000186448.14	protein_coding	D3S1363E|P18|VHLaK|ZKSCAN9|ZNF166|ZNF20|ZSCAN41	3p21.31	zinc finger protein 197	This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding zinc finger domains. The encoded protein contains 20 tandemly arrayed C2H2-type zinc fingers, a Kruppel-associated box (KRAB) domain, and a SCAN box. This transcript turns over rapidly and contains 3 UTR AUUUA motifs, which are often a hallmark of rapid turnover. It is overexpressed in some thyroid papillary carcinomas. This gene is located in a cluster of zinc finger genes at 3p21. Naturally-occurring readthrough transcription is observed between this gene and the upstream zinc finger protein 660 gene and is represented by GeneID:110354863. [provided by RefSeq, May 2017]
ZNF2	chr2	95165432	95184317	+	ENSG00000275111.4	protein_coding	A1-5|ZNF661|Zfp661	2q11.1	zinc finger protein 2	The protein encoded by this gene belongs to the C2H2-type zinc-finger protein family. The exact function of this gene is not known, however, zinc-finger proteins are known to interact with DNA and function as transcription regulators. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
ZNF20	chr19	12092843	12140407	-	ENSG00000132010.15	protein_coding	KOX13	19p13.2	zinc finger protein 20	Broad expression in testis (RPKM 5.4), thyroid (RPKM 2.3) and 24 other tissues
ZNF200	chr16	3222325	3236221	-	ENSG00000010539.11	protein_coding	-	16p13.3	zinc finger protein 200	-
ZNF202	chr11	123724177	123741675	-	ENSG00000166261.10	protein_coding	ZKSCAN10|ZSCAN42	11q24.1	zinc finger protein 202	Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in chromosome; nuclear body; and nucleolus. [provided by Alliance of Genome Resources, Apr 2022]
ZNF204P	chr6	27357825	27360221	-	ENSG00000204789.4	processed_pseudogene	ZNF184-Lp|ZNF204|ZNF315P|b24o18.1	6p22.1	zinc finger protein 204, pseudogene	This locus represents a transcribed pseudogene, possibly of ZNF79 (GeneID 7633). The protein encoded by this locus would have significant N-terminal truncation, and would lack the KRAB domain and the C2H2 type zinc finger domain, compared to ZNF79. [provided by RefSeq, Jun 2011]
ZNF205	chr16	3112560	3120517	+	ENSG00000122386.10	protein_coding	RhitH|ZNF210|Zfp13	16p13.3	zinc finger protein 205	Ubiquitous expression in kidney (RPKM 3.3), ovary (RPKM 2.9) and 25 other tissues
ZNF207	chr17	32350117	32381886	+	ENSG00000010244.18	protein_coding	BuGZ|hBuGZ	17q11.2	zinc finger protein 207	Ubiquitous expression in bone marrow (RPKM 30.2), lymph node (RPKM 22.5) and 25 other tissues
ZNF208	chr19	21932958	22010949	-	ENSG00000160321.14	protein_coding	PMIDP|ZNF95	19p12	zinc finger protein 208	Zinc finger proteins (ZNFs), such as ZNF208, bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. A conserved protein motif, termed the Kruppel-associated box (KRAB) domain, mediates protein-protein interactions (Eichler et al., 1998 [PubMed 9724325]). See ZNF91 (MIM 603971) for further information on ZNFs.[supplied by OMIM, Aug 2009]
ZNF209P	chr19	22463922	22473036	+	ENSG00000269138.1	unprocessed_pseudogene	ZNF209	19p12	zinc finger protein 209, pseudogene	-
ZNF212	chr7	149239651	149255609	+	ENSG00000170260.8	protein_coding	C2H2-150|ZNF182|ZNFC150	7q36.1	zinc finger protein 212	This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008]
ZNF213	chr16	3129777	3142805	+	ENSG00000085644.13	protein_coding	CR53|ZKSCAN21|ZSCAN53	16p13.3	zinc finger protein 213	C2H2 zinc finger proteins, such as ZNF213, have bipartite structures in which one domain binds DNA or RNA and the other modulates target gene expression.[supplied by OMIM, Apr 2004]
ZNF213-AS1	chr16	3110460	3134882	-	ENSG00000263072.6	antisense	-	16p13.3	ZNF213 antisense RNA 1 (head to head)	-
ZNF217	chr20	53567065	53609907	-	ENSG00000171940.13	protein_coding	ZABC1	20q13.2	zinc finger protein 217	Ubiquitous expression in urinary bladder (RPKM 14.5), spleen (RPKM 14.3) and 25 other tissues
ZNF219	chr14	21090046	21104722	-	ENSG00000165804.15	protein_coding	ZFP219	14q11.2	zinc finger protein 219	This gene is a member of the Kruppel-like zinc finger gene family. The encoded protein functions as a transcriptional repressor of the high mobility group nucleosome binding domain 1 protein, which is associated with transcriptionally active chromatin. [provided by RefSeq, Apr 2017]
ZNF22-AS1	chr10	 44993932	45000803	-	ENSG00000165511	ncRNA	C10orf25	10q11.21	ZNF22 antisense RNA 1	-
ZNF221	chr19	43951223	43967709	+	ENSG00000159905.14	protein_coding	-	19q13.31	zinc finger protein 221	-
ZNF222	chr19	44025342	44033112	+	ENSG00000159885.13	protein_coding	-	19q13.31	zinc finger protein 222	-
ZNF223	chr19	44051367	44067991	+	ENSG00000178386.12	protein_coding	-	19q13.31	zinc finger protein 223	Ubiquitous expression in thyroid (RPKM 1.4), urinary bladder (RPKM 1.1) and 25 other tissues
ZNF224	chr19	44094339	44109886	+	ENSG00000267680.5	protein_coding	BMZF-2|BMZF2|KOX22|ZNF233|ZNF255|ZNF27	19q13.31	zinc finger protein 224	This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein represses transcription of the aldolase A gene, which encodes a key enzyme in glycolysis. The encoded zinc-finger protein may also function as a transcriptional co-activator with Wilms tumor protein 1 to regulate apoptotic genes in leukemia. [provided by RefSeq, Jul 2016]
ZNF225	chr19	44112181	44134816	+	ENSG00000256294.7	protein_coding	-	19q13.31	zinc finger protein 225	-
ZNF226	chr19	44165073	44178381	+	ENSG00000167380.16	protein_coding	-	19q13.31	zinc finger protein 226	-
ZNF227	chr19	44207547	44237268	+	ENSG00000131115.15	protein_coding	-	19q13.31	zinc finger protein 227	-
ZNF229	chr19	44417519	44448578	-	ENSG00000278318.4	protein_coding	-	19q13.31	zinc finger protein 229	-
ZNF23	chr16	71447597	71463095	-	ENSG00000167377.17	protein_coding	KOX16|ZNF359|ZNF612|Zfp612	16q22.2	zinc finger protein 23	Ubiquitous expression in testis (RPKM 6.2), brain (RPKM 4.4) and 25 other tissues
ZNF230	chr19	44002948	44013926	+	ENSG00000159882.12	protein_coding	FDZF2	19q13.31	zinc finger protein 230	Ubiquitous expression in ovary (RPKM 1.7), thyroid (RPKM 1.6) and 25 other tissues
ZNF232	chr17	5105541	5123116	-	ENSG00000167840.13	protein_coding	ZSCAN11	17p13.2	zinc finger protein 232	Ubiquitous expression in ovary (RPKM 6.2), testis (RPKM 4.2) and 25 other tissues
ZNF233	chr19	44259880	44275317	+	ENSG00000159915.12	protein_coding	-	19q13.31	zinc finger protein 233	-
ZNF234	chr19	44141557	44160309	+	ENSG00000263002.7	protein_coding	HZF4|ZNF269	19q13.31	zinc finger protein 234	Ubiquitous expression in spleen (RPKM 2.1), thyroid (RPKM 2.0) and 25 other tissues
ZNF235	chr19	44228729	44305046	-	ENSG00000159917.15	protein_coding	ANF270|HZF6|ZFP93|ZNF270	19q13.31	zinc finger protein 235	This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding zinc finger domains. The encoded protein is a member of the Kruppel family of zinc finger proteins, and contains Kruppel-associated box (KRAB) A and B domains and 15 tandemly arrayed C2H2-type zinc fingers. It is an ortholog of the mouse Zfp93 protein. This gene is located in a cluster of zinc finger genes on 19q13.2. [provided by RefSeq, Jul 2008]
ZNF236	chr18	76822607	76970727	+	ENSG00000130856.15	protein_coding	ZNF236A|ZNF236B	18q23	zinc finger protein 236	Broad expression in testis (RPKM 5.8), ovary (RPKM 2.3) and 24 other tissues
ZNF239	chr10	43556344	43574618	-	ENSG00000196793.13	protein_coding	HOK-2|MOK2	10q11.21	zinc finger protein 239	MOK2 proteins are DNA- and RNA-binding proteins that are mainly associated with nuclear RNP components, including the nucleoli and extranucleolar structures (Arranz et al., 1997 [PubMed 9121460]).[supplied by OMIM, Mar 2008]
ZNF24	chr18	35332212	35345482	-	ENSG00000172466.15	protein_coding	KOX17|RSG-A|ZNF191|ZSCAN3|Zfp191	18q12.2	zinc finger protein 24	Ubiquitous expression in thyroid (RPKM 22.0), brain (RPKM 18.9) and 25 other tissues
ZNF25	chr10	37949572	37976633	-	ENSG00000175395.15	protein_coding	KOX19|Zfp9	10p11.21	zinc finger protein 25	Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
ZNF250	chr8	144876497	144902168	-	ENSG00000196150.13	protein_coding	ZFP647|ZNF647	8q24.3	zinc finger protein 250	Ubiquitous expression in thyroid (RPKM 3.2), ovary (RPKM 1.9) and 25 other tissues
ZNF251	chr8	144720907	144756417	-	ENSG00000198169.8	protein_coding	-	8q24.3	zinc finger protein 251	-
ZNF253	chr19	19865886	19894674	+	ENSG00000256771.3	protein_coding	BMZF-1|BMZF1|ZNF411	19p13.11	zinc finger protein 253	Ubiquitous expression in thyroid (RPKM 6.0), ovary (RPKM 4.3) and 25 other tissues
ZNF257	chr19	22052452	22091480	+	ENSG00000197134.11	protein_coding	BMZF-4|BMZF4	19p12	zinc finger protein 257	Broad expression in testis (RPKM 1.5), lymph node (RPKM 1.1) and 22 other tissues
ZNF26	chr12	132986365	133032952	+	ENSG00000198393.7	protein_coding	HEL-179|KOX20	12q24.33	zinc finger protein 26	Ubiquitous expression in bone marrow (RPKM 2.0), lymph node (RPKM 1.7) and 25 other tissues
ZNF260	chr19	36510695	36528660	-	ENSG00000254004.6	protein_coding	OZRF1|PEX1|ZFP260	19q13.12	zinc finger protein 260	Ubiquitous expression in thyroid (RPKM 5.3), endometrium (RPKM 4.0) and 25 other tissues
ZNF263	chr16	3263800	3301401	+	ENSG00000006194.9	protein_coding	FPM315|ZKSCAN12|ZSCAN44	16p13.3	zinc finger protein 263	Ubiquitous expression in ovary (RPKM 7.9), testis (RPKM 7.1) and 25 other tissues
ZNF266	chr19	9412598	9435578	-	ENSG00000174652.17	protein_coding	HZF1	19p13.2	zinc finger protein 266	This gene encodes a protein containing many tandem zinc-finger motifs. Zinc fingers are protein or nucleic acid-binding domains, and may be involved in a variety of functions, including regulation of transcription. This gene is located in a cluster of similar genes encoding zinc finger proteins on chromosome 19. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Sep 2012]
ZNF267	chr16	31873758	31917357	+	ENSG00000185947.14	protein_coding	HZF2	16p11.2	zinc finger protein 267	Ubiquitous expression in appendix (RPKM 9.7), lymph node (RPKM 8.0) and 24 other tissues
ZNF268	chr12	133181409	133214831	+	ENSG00000090612.20	protein_coding	HZF3	12q24.33	zinc finger protein 268	Ubiquitous expression in thyroid (RPKM 5.9), kidney (RPKM 4.2) and 25 other tissues
ZNF273	chr7	64870172	64930966	+	ENSG00000198039.11	protein_coding	HZF9	7q11.21	zinc finger protein 273	This gene is a member of the krueppel C2H2-type zinc-finger protein family and encodes a protein with 13 C2H2-type zinc fingers and a KRAB domain. This nuclear protein is involved in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
ZNF274	chr19	58183029	58213562	+	ENSG00000171606.17	protein_coding	HFB101|ZF2|ZKSCAN19|ZSCAN51	19q13.43	zinc finger protein 274	This gene encodes a zinc finger protein containing five C2H2-type zinc finger domains, one or two Kruppel-associated box A (KRAB A) domains, and a leucine-rich domain. The encoded protein has been suggested to be a transcriptional repressor. It localizes predominantly to the nucleolus. Alternatively spliced transcript variants encoding different isoforms exist. These variants utilize alternative polyadenylation signals. [provided by RefSeq, Jul 2008]
ZNF276	chr16	89720400	89740903	+	ENSG00000158805.11	protein_coding	CENP-Z|CENPZ|ZADT|ZFP276|ZNF477	16q24.3	zinc finger protein 276	Ubiquitous expression in lymph node (RPKM 7.7), spleen (RPKM 7.6) and 25 other tissues
ZNF277	chr7	112206588	112343096	+	ENSG00000198839.9	protein_coding	NRIF4|ZNF277P	7q31.1	zinc finger protein 277	Note: Although this gene is named as a pseudogene, it is not yet established that the truncated protein lost function (PubMed 16395595). The NCBI RefSeq Project therefore continues to treat this as a protein coding gene. [11 Apr 2007]
ZNF280C	chrX	130202711	130268899	-	ENSG00000056277.15	protein_coding	SUHW3|ZNF633|ZPET	Xq26.1	zinc finger protein 280C	This gene encodes a member of the zinc finger domain-containing protein family. This family member contains multiple Cys2-His2(C2H2)-type zinc finger domains, the most common type of zinc finger domain that self-folds to form a beta-beta-alpha structure that binds a zinc ion. [provided by RefSeq, Aug 2011]
ZNF280D	chr15	56630181	56918571	-	ENSG00000137871.19	protein_coding	SUHW4|ZNF634	15q21.3	zinc finger protein 280D	Ubiquitous expression in ovary (RPKM 5.7), endometrium (RPKM 5.4) and 25 other tissues
ZNF281	chr1	200404940	200410056	-	ENSG00000162702.7	protein_coding	GZP1|ZBP-99|ZBP99|ZNP-99	1q32.1	zinc finger protein 281	Ubiquitous expression in bone marrow (RPKM 10.1), appendix (RPKM 5.7) and 25 other tissues
ZNF282	chr7	149195485	149226248	+	ENSG00000170265.11	protein_coding	HUB1	7q36.1	zinc finger protein 282	Ubiquitous expression in endometrium (RPKM 6.2), prostate (RPKM 5.8) and 25 other tissues
ZNF283	chr19	43827292	43852017	+	ENSG00000167637.16	protein_coding	HZF19|HZF41	19q13.31	zinc finger protein 283	Low expression observed in reference dataset
ZNF284	chr19	44072144	44089613	+	ENSG00000186026.6	protein_coding	ZNF284L	19q13.31	zinc finger protein 284	Ubiquitous expression in skin (RPKM 1.1), spleen (RPKM 0.9) and 25 other tissues
ZNF285	chr19	44382298	44401608	-	ENSG00000267508.5	protein_coding	ZNF285A	19q13.31	zinc finger protein 285	Ubiquitous expression in ovary (RPKM 3.0), testis (RPKM 1.8) and 23 other tissues
ZNF285BP	chr19	 44464182	44473358	+	-	pseudogene	ZNF285B	19q13.31	zinc finger protein 285B, pseudogene	-
ZNF286A	chr17	15699577	15720787	+	ENSG00000187607.15	protein_coding	ZNF286	17p12	zinc finger protein 286A	Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be integral component of membrane. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
ZNF286B	chr17	18658429	18682262	-	ENSG00000249459.8	protein_coding	FOXO3B|ZNF286C|ZNF286L|ZNF590	17p11.2	zinc finger protein 286B (pseudogene)	Ubiquitous expression in ovary (RPKM 2.2), endometrium (RPKM 1.8) and 24 other tissues
ZNF292	chr6	87152833	87264196	+	ENSG00000188994.12	protein_coding	MRD63|MRD64|Nbla00365|ZFP292|ZN-16|Zn-15|bA393I2.3	6q14.3	zinc finger protein 292	This gene encodes a growth hormone-dependent, zinc finger transcription factor that functions as a tumor suppressor. Naturally occurring mutations in this gene are associated with gastric cancer, colorectal cancer, and chronic lymphocytic leukemia. [provided by RefSeq, May 2017]
ZNF295-AS1	chr21	42009194	42024924	+	ENSG00000237232.7	lincRNA	C21orf121|NCRNA00318|PRED87	21q22.3	ZNF295 antisense RNA 1	Biased expression in testis (RPKM 5.6) and adrenal (RPKM 0.4)
ZNF296	chr19	45071500	45076588	-	ENSG00000170684.8	protein_coding	ZFP296|ZNF342	19q13.32	zinc finger protein 296	Broad expression in bone marrow (RPKM 1.9), spleen (RPKM 1.8) and 18 other tissues
ZNF3	chr7	100064033	100082548	-	ENSG00000166526.16	protein_coding	A8-51|HF.12|KOX25|PP838|Zfp113	7q22.1	zinc finger protein 3	Ubiquitous expression in endometrium (RPKM 7.6), thyroid (RPKM 6.8) and 25 other tissues
ZNF300	chr5	150894392	150904983	-	ENSG00000145908.12	protein_coding	-	5q33.1	zinc finger protein 300	Ubiquitous expression in ovary (RPKM 3.4), testis (RPKM 3.0) and 24 other tissues
ZNF300P1	chr5	150930645	150946289	-	ENSG00000197083.11	transcribed_unprocessed_pseudogene	-	5q33.1	zinc finger protein 300 pseudogene 1	-
ZNF302	chr19	34677639	34686397	+	ENSG00000089335.20	protein_coding	HSD16|MST154|MSTP154|ZNF135L|ZNF140L|ZNF327	19q13.11	zinc finger protein 302	This gene encodes a member of the zinc-finger protein family. The encoded protein contains seven C2H2-type zinc fingers and a KRAB domain, but its function has yet to be determined. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2014]
ZNF304	chr19	57351307	57359898	+	ENSG00000131845.14	protein_coding	-	19q13.43	zinc finger protein 304	Ubiquitous expression in thyroid (RPKM 4.2), spleen (RPKM 3.4) and 25 other tissues
ZNF311	chr6	28994785	29005316	-	ENSG00000197935.6	protein_coding	zf31	6p22.1	zinc finger protein 311	Broad expression in testis (RPKM 1.9), thyroid (RPKM 1.3) and 22 other tissues
ZNF316	chr7	6637322	6656432	+	ENSG00000205903.6	protein_coding	MZF-3	7p22.1	zinc finger protein 316	Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
ZNF317	chr19	9140380	9163424	+	ENSG00000130803.14	protein_coding	-	19p13.2	zinc finger protein 317	-
ZNF318	chr6	43307134	43369478	-	ENSG00000171467.15	protein_coding	HRIHFB2436|TZF|ZFP318	6p21.1	zinc finger protein 318	Broad expression in testis (RPKM 18.5), lymph node (RPKM 10.0) and 24 other tissues
ZNF319	chr16	57994668	58000453	-	ENSG00000166188.2	protein_coding	ZFP319	16q21	zinc finger protein 319	Ubiquitous expression in spleen (RPKM 3.4), thyroid (RPKM 3.3) and 25 other tissues
ZNF320	chr19	52863790	52897693	-	ENSG00000182986.12	protein_coding	ZFPL	19q13.41	zinc finger protein 320	ZNF320 encodes a Kruppel-like zinc finger protein. Members of this protein family are involved in activation or repression of transcription.[supplied by OMIM, Jul 2002]
ZNF322	chr6	26634383	26659752	-	ENSG00000181315.10	protein_coding	HCG12|ZNF322A|ZNF388|ZNF489	6p22.2	zinc finger protein 322	ZNF322A is a member of the zinc-finger transcription factor family and may regulate transcriptional activation in MAPK (see MAPK1; MIM 176948) signaling pathways (Li et al., 2004 [PubMed 15555580]).[supplied by OMIM, Mar 2008]
ZNF324	chr19	58467045	58475436	+	ENSG00000083812.11	protein_coding	ZF5128|ZNF324A	19q13.43	zinc finger protein 324	Ubiquitous expression in brain (RPKM 2.5), ovary (RPKM 2.4) and 25 other tissues
ZNF324B	chr19	58451604	58457833	+	ENSG00000249471.7	protein_coding	-	19q13.43	zinc finger protein 324B	-
ZNF329	chr19	58126252	58155110	-	ENSG00000181894.14	protein_coding	-	19q13.43	zinc finger protein 329	-
ZNF331	chr19	53520981	53580269	+	ENSG00000130844.16	protein_coding	RITA|ZNF361|ZNF463	19q13.42	zinc finger protein 331	This gene encodes a zinc finger protein containing a KRAB (Kruppel-associated box) domain found in transcriptional repressors. This gene may be methylated and silenced in cancer cells. This gene is located within a differentially methylated region (DMR) and shows allele-specific expression in placenta. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding the same protein. [provided by RefSeq, Nov 2015]
ZNF333	chr19	14689801	14733746	+	ENSG00000160961.11	protein_coding	-	19p13.12	zinc finger protein 333	-
ZNF334	chr20	46499630	46513559	-	ENSG00000198185.11	protein_coding	-	20q13.12	zinc finger protein 334	Broad expression in ovary (RPKM 2.5), brain (RPKM 1.8) and 25 other tissues
ZNF335	chr20	45948653	45972172	-	ENSG00000198026.7	protein_coding	MCPH10|NIF-1|NIF1|NIF2	20q13.12	zinc finger protein 335	The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq, Jul 2008]
ZNF337	chr20	25674215	25696841	-	ENSG00000130684.13	protein_coding	-	20p11.21	zinc finger protein 337	Ubiquitous expression in ovary (RPKM 5.9), endometrium (RPKM 5.8) and 25 other tissues
ZNF33B	chr10	42574185	42638568	-	ENSG00000196693.14	protein_coding	KOX2|KOX31|ZNF11B	10q11.21	zinc finger protein 33B	This gene encodes a member of the zinc finger family of proteins. This gene shows decreased expression in cumulus cells derived from patients undergoing controlled ovarian stimulation. This gene is present in a gene cluster with several related zinc finger genes in the pericentromeric region of chromosome 10. Pseudogenes have been identified on chromosomes 7 and 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
ZNF34	chr8	144773114	144787345	-	ENSG00000196378.11	protein_coding	KOX32	8q24.3	zinc finger protein 34	Ubiquitous expression in ovary (RPKM 2.4), thyroid (RPKM 1.9) and 25 other tissues
ZNF341	chr20	33731657	33792269	+	ENSG00000131061.13	protein_coding	HIES3	20q11.22	zinc finger protein 341	Ubiquitous expression in testis (RPKM 1.6), spleen (RPKM 1.5) and 25 other tissues
ZNF345	chr19	36850361	36913029	+	ENSG00000251247.10	protein_coding	HZF10	19q13.12	zinc finger protein 345	Ubiquitous expression in testis (RPKM 2.1), skin (RPKM 1.8) and 25 other tissues
ZNF346	chr5	177022696	177081189	+	ENSG00000113761.11	protein_coding	JAZ|Zfp346	5q35.2	zinc finger protein 346	The protein encoded by this gene is a nucleolar, zinc finger protein that preferentially binds to double-stranded (ds) RNA or RNA/DNA hybrids, rather than DNA alone. Mutational studies indicate that the zinc finger domains are not only essential for dsRNA binding, but are also required for its nucleolar localization. The encoded protein may be involved in cell growth and survival. It plays a role in protecting neurons by inhibiting cell cycle re-entry via stimulation of p21 gene expression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
ZNF346-IT1	chr5	177051714	177052963	+	ENSG00000251666.1	sense_intronic	-	5q35.2	ZNF346 intronic transcript 1	-
ZNF35	chr3	44648727	44660791	+	ENSG00000169981.10	protein_coding	HF.10|HF10|Zfp105	3p21.31	zinc finger protein 35	Broad expression in testis (RPKM 5.6), urinary bladder (RPKM 2.4) and 25 other tissues
ZNF350	chr19	51964343	51986856	-	ENSG00000256683.6	protein_coding	ZBRK1|ZFQR	19q13.41	zinc finger protein 350	Ubiquitous expression in prostate (RPKM 10.8), thyroid (RPKM 4.3) and 24 other tissues
ZNF354A	chr5	178694605	178730702	-	ENSG00000169131.11	protein_coding	EZNF|HEL104|HKL1|KID-1|KID1|TCF17	5q35.3	zinc finger protein 354A	Ubiquitous expression in testis (RPKM 5.1), thyroid (RPKM 4.4) and 25 other tissues
ZNF354B	chr5	178859953	178888122	+	ENSG00000178338.10	protein_coding	KID2	5q35.3	zinc finger protein 354B	Ubiquitous expression in placenta (RPKM 4.5), endometrium (RPKM 3.9) and 25 other tissues
ZNF354C	chr5	179060415	179083537	+	ENSG00000177932.6	protein_coding	KID3	5q35.3	zinc finger protein 354C	Ubiquitous expression in ovary (RPKM 3.8), thyroid (RPKM 3.7) and 25 other tissues
ZNF358	chr19	7515292	7521026	+	ENSG00000198816.6	protein_coding	ZFEND	19p13.2	zinc finger protein 358	Ubiquitous expression in fat (RPKM 21.7), ovary (RPKM 18.2) and 24 other tissues
ZNF362	chr1	33256545	33300719	+	ENSG00000160094.14	protein_coding	RN|lin-29	1p35.1	zinc finger protein 362	Ubiquitous expression in spleen (RPKM 4.1), kidney (RPKM 3.8) and 25 other tissues
ZNF365	chr10	62374192	62672011	+	ENSG00000138311.15	protein_coding	Su48|UAN|ZNF365D	10q21.2	zinc finger protein 365	This gene encodes a zinc finger protein that may play a role in the repair of DNA damage and maintenance of genome stability. The N-terminal C2H2 zinc finger motif is required to form a protein complex with PARP1 and MRE11, which are known to be involved in the restart of stalled DNA replication forks. A mutation in this gene may be associated with breast cancer susceptibility. [provided by RefSeq, Mar 2020]
ZNF367	chr9	96385941	96418329	-	ENSG00000165244.6	protein_coding	AFF29|CDC14B|ZFF29	9q22.32|9q22.32	zinc finger protein 367	Broad expression in bone marrow (RPKM 8.1), testis (RPKM 3.6) and 21 other tissues
ZNF37BP	chr10	42513510	42552822	-	ENSG00000234420.7	transcribed_processed_pseudogene	KOX21|ZNF37B	10q11.21	zinc finger protein 37B, pseudogene	Ubiquitous expression in spleen (RPKM 4.0), endometrium (RPKM 3.6) and 25 other tissues
ZNF382	chr19	36604817	36634113	+	ENSG00000161298.17	protein_coding	KS1	19q13.12	zinc finger protein 382	This gene encodes a KRAB domain zinc finger transcription factor (KZNF). KZNFs play critical roles in the regulation of many cellular processes including differentiation, proliferation and apoptosis. The encoded protein inhibits activating protein 1 (AP-1) and nuclear factor kappa-B (NF-kB) signaling and may function as a tumor suppressor in multiple carcinomas. This gene is found in a cluster with other zinc finger protein genes on the long arm of chromosome 19, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
ZNF383	chr19	37217926	37248738	+	ENSG00000188283.11	protein_coding	HSD17|Zfp383	19q13.12	zinc finger protein 383	The protein encoded by this gene is a KRAB-related zinc finger protein that inhibits the transcription of some MAPK signaling pathway genes. The repressor activity resides in the KRAB domain of the encoded protein. [provided by RefSeq, Sep 2016]
ZNF384	chr12	6666477	6689572	-	ENSG00000126746.17	protein_coding	CAGH1|CAGH1A|CIZ|ERDA2|NMP4|NP|TNRC1	12p13.31	zinc finger protein 384	This gene encodes a C2H2-type zinc finger protein, which may function as a transcription factor. This gene also contains long CAG trinucleotide repeats that encode consecutive glutamine residues. The protein appears to bind and regulate the promoters of the extracellular matrix genes MMP1, MMP3, MMP7 and COL1A1. Studies in mouse suggest that nuclear matrix transcription factors (NP/NMP4) may be part of a general mechanical pathway that couples cell construction and function during extracellular matrix remodeling. Alternative splicing results in multiple transcript variants. Recurrent rearrangements of this gene with the Ewings sarcoma gene, EWSR1 on chromosome 22, or with the TAF15 gene on chromosome 17, or with the TCF3 (E2A) gene on chromosome 19, have been observed in acute leukemia. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Apr 2011]
ZNF385A	chr12	54369133	54391298	-	ENSG00000161642.17	protein_coding	HZF|RZF|ZFP385|ZNF385	12q13.13	zinc finger protein 385A	Zinc finger proteins, such as ZNF385A, are regulatory proteins that act as transcription factors, bind single- or double-stranded RNA, or interact with other proteins (Sharma et al., 2004 [PubMed 15527981]).[supplied by OMIM, Oct 2008]
ZNF385B	chr2	179441982	179861505	-	ENSG00000144331.18	protein_coding	ZNF533	2q31.2-q31.3	zinc finger protein 385B	Broad expression in lung (RPKM 1.7), heart (RPKM 1.4) and 14 other tissues
ZNF385C	chr17	42025576	42098479	-	ENSG00000187595.15	protein_coding	-	17q21.2	zinc finger protein 385C	-
ZNF391	chr6	27374615	27403904	+	ENSG00000124613.8	protein_coding	dJ153G14.3	6p22.1	zinc finger protein 391	Broad expression in testis (RPKM 2.3), thyroid (RPKM 2.1) and 23 other tissues
ZNF394	chr7	99486519	99500324	-	ENSG00000160908.14	protein_coding	ZKSCAN14|ZSCAN46	7q22.1	zinc finger protein 394	The protein encoded by this gene is a zinc finger protein that inhibits the transcription of mitogen-activated protein kinase signaling pathways. The encoded protein may be involved in cardiac function. [provided by RefSeq, Sep 2016]
ZNF396	chr18	35366697	35377337	-	ENSG00000186496.10	protein_coding	ZSCAN14	18q12.2	zinc finger protein 396	Broad expression in thyroid (RPKM 1.8), testis (RPKM 1.3) and 24 other tissues
ZNF397	chr18	35241030	35267133	+	ENSG00000186812.12	protein_coding	ZNF47|ZSCAN15	18q12.2	zinc finger protein 397	This gene encodes a protein with a N-terminal SCAN domain, and the longer isoform contains nine C2H2-type zinc finger repeats in the C-terminal domain. The protein localizes to centromeres during interphase and early prophase, and different isoforms can repress or activate transcription in transfection studies. Multiple transcript variants encoding different isoforms have been found for this gene. Additional variants have been described, but their biological validity has not been determined. [provided by RefSeq, Oct 2009]
ZNF398	chr7	149126416	149182802	+	ENSG00000197024.8	protein_coding	P51|P71|ZER6	7q36.1	zinc finger protein 398	This gene encodes a member of the Kruppel family of C2H2-type zinc-finger transcription factor proteins. The encoded protein acts as a transcriptional activator. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described, but their full length sequence has not been determined. [provided by RefSeq, Jul 2008]
ZNF404	chr19	43872363	43901385	-	ENSG00000176222.8	protein_coding	-	19q13.31	zinc finger protein 404	-
ZNF408	chr11	46700818	46705912	+	ENSG00000175213.2	protein_coding	EVR6|RP72	11p11.2	zinc finger protein 408	The protein encoded by this gene contains ten tandem zinc fingers and an N-terminal SET domain, so it is likely a DNA binding protein that interacts with other proteins. In adults, the encoded protein is expressed most highly in retina. Consequently, defects in this gene have been associated with familial exudative vitreoretinopathy (FEVR) and retinitis pigmentosa (RP). [provided by RefSeq, Dec 2016]
ZNF410	chr14	73886617	73932511	+	ENSG00000119725.18	protein_coding	APA-1|APA1	14q24.3	zinc finger protein 410	Ubiquitous expression in testis (RPKM 23.4), bone marrow (RPKM 18.5) and 25 other tissues
ZNF414	chr19	8509678	8514164	-	ENSG00000133250.13	protein_coding	ZFP414	19p13.2	zinc finger protein 414	Ubiquitous expression in spleen (RPKM 4.4), prostate (RPKM 4.1) and 25 other tissues
ZNF415	chr19	53107879	53133077	-	ENSG00000170954.11	protein_coding	Pact|ZfLp	19q13.42	zinc finger protein 415	Broad expression in testis (RPKM 8.7), adrenal (RPKM 5.5) and 22 other tissues
ZNF416	chr19	57571566	57578927	-	ENSG00000083817.8	protein_coding	-	19q13.43	zinc finger protein 416	-
ZNF417	chr19	57900296	57916610	-	ENSG00000173480.10	protein_coding	-	19q13.43	zinc finger protein 417	-
ZNF418	chr19	57921884	57935393	-	ENSG00000196724.12	protein_coding	ZFP418	19q13.43	zinc finger protein 418	Ubiquitous expression in thyroid (RPKM 1.8), skin (RPKM 1.6) and 25 other tissues
ZNF419	chr19	57487711	57496097	+	ENSG00000105136.20	protein_coding	ZAPHIR|ZNF419A	19q13.43	zinc finger protein 419	Ubiquitous expression in thyroid (RPKM 5.2), spleen (RPKM 4.2) and 25 other tissues
ZNF420	chr19	37007857	37130314	+	ENSG00000197050.10	protein_coding	APAK	19q13.12	zinc finger protein 420	The protein encoded by this gene is a KRAB-type zinc finger protein that negatively-regulates p53-mediated apoptosis. Under stress conditions, the encoded protein is phosphorylated by ATM and dissociates from p53, which activates p53 and initiates apoptosis. [provided by RefSeq, Jul 2016]
ZNF423	chr16	49487524	49857919	-	ENSG00000102935.11	protein_coding	Ebfaz|JBTS19|NPHP14|OAZ|Roaz|ZFP423|Zfp104|hOAZ	16q12.1	zinc finger protein 423	The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]
ZNF425	chr7	149102784	149126346	-	ENSG00000204947.8	protein_coding	-	7q36.1	zinc finger protein 425	-
ZNF426	chr19	9523224	9538645	-	ENSG00000130818.11	protein_coding	K-RBP	19p13.2	zinc finger protein 426	Kaposis sarcoma-associated herpesvirus (KSHV) can be reactivated from latency by the viral protein RTA. The protein encoded by this gene is a zinc finger transcriptional repressor that interacts with RTA to modulate RTA-mediated reactivation of KSHV. While the encoded protein can repress KSHV reactivation, RTA can induce degradation of this protein through the ubiquitin-proteasome pathway to overcome the repression. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
ZNF428	chr19	43607219	43619874	-	ENSG00000131116.11	protein_coding	C19orf37|Zfp428	19q13.31	zinc finger protein 428	Ubiquitous expression in brain (RPKM 19.1), testis (RPKM 14.8) and 25 other tissues
ZNF43	chr19	21804949	21852125	-	ENSG00000198521.11	protein_coding	HTF6|KOX27|ZNF39L1	19p12	zinc finger protein 43	This gene belongs to the C2H2-type zinc finger gene family. The zinc finger proteins are involved in gene regulation and development, and are quite conserved throughout evolution. Like this gene product, a third of the zinc finger proteins containing C2H2 fingers also contain the KRAB domain, which has been found to be involved in protein-protein interactions. [provided by RefSeq, Jul 2008]
ZNF430	chr19	21020620	21060050	+	ENSG00000118620.12	protein_coding	-	19p12	zinc finger protein 430	-
ZNF431	chr19	21142024	21196053	+	ENSG00000196705.8	protein_coding	ZFP932	19p12	zinc finger protein 431	This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein may negatively regulate transcription of target genes, including the hedgehog signaling pathway receptor patched 1, by interacting with histone deacetylases. Mutations in this gene may be associated with non-syndromic facial clefting in human patients. [provided by RefSeq, Jul 2016]
ZNF432	chr19	52031379	52095738	-	ENSG00000256087.6	protein_coding	-	19q13.41	zinc finger protein 432	-
ZNF433	chr19	12014732	12035741	-	ENSG00000197647.11	protein_coding	-	19p13.2	zinc finger protein 433	-
ZNF436	chr1	23359448	23369442	-	ENSG00000125945.14	protein_coding	ZNF|Zfp46	1p36.12	zinc finger protein 436	Ubiquitous expression in ovary (RPKM 11.7), brain (RPKM 9.2) and 25 other tissues
ZNF436-AS1	chr1	23368997	23371839	+	ENSG00000249087.6	antisense	C1orf213	1p36.12	ZNF436 antisense RNA 1	Broad expression in fat (RPKM 9.0), ovary (RPKM 3.7) and 22 other tissues
ZNF438	chr10	30820207	31031937	-	ENSG00000183621.15	protein_coding	bA330O11.1	10p11.23	zinc finger protein 438	Ubiquitous expression in thyroid (RPKM 2.5), testis (RPKM 2.0) and 24 other tissues
ZNF439	chr19	11848726	11883750	+	ENSG00000171291.8	protein_coding	-	19p13.2	zinc finger protein 439	-
ZNF44	chr19	12224686	12294887	-	ENSG00000197857.13	protein_coding	GIOT-2|KOX7|ZNF|ZNF504|ZNF55|ZNF58	19p13.2	zinc finger protein 44	Ubiquitous expression in thyroid (RPKM 2.6), kidney (RPKM 2.3) and 25 other tissues
ZNF440	chr19	11814284	11835201	+	ENSG00000171295.12	protein_coding	-	19p13.2	zinc finger protein 440	-
ZNF441	chr19	11767000	11784078	+	ENSG00000197044.10	protein_coding	-	19p13.2	zinc finger protein 441	-
ZNF442	chr19	12345949	12365905	-	ENSG00000198342.9	protein_coding	-	19p13.2	zinc finger protein 442	-
ZNF443	chr19	12429707	12441112	-	ENSG00000180855.15	protein_coding	ZK1	19p13.2	zinc finger protein 443	Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002]
ZNF445	chr3	44431720	44477670	-	ENSG00000185219.16	protein_coding	ZFP445|ZKSCAN15|ZNF168|ZSCAN47	3p21.31	zinc finger protein 445	Ubiquitous expression in ovary (RPKM 3.6), brain (RPKM 3.4) and 25 other tissues
ZNF446	chr19	58474017	58481230	+	ENSG00000083838.15	protein_coding	ZKSCAN20|ZSCAN30|ZSCAN52	19q13.43	zinc finger protein 446	Ubiquitous expression in testis (RPKM 4.7), ovary (RPKM 4.0) and 25 other tissues
ZNF45	chr19	43912629	43935278	-	ENSG00000124459.11	protein_coding	KOX5|ZNF13	19q13.31	zinc finger protein 45	Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
ZNF451	chr6	57086844	57170307	+	ENSG00000112200.16	protein_coding	COASTER|dJ417I1.1	6p12.1	zinc finger protein 451	Ubiquitous expression in bone marrow (RPKM 8.1), testis (RPKM 5.2) and 24 other tissues
ZNF454	chr5	178941191	178966433	+	ENSG00000178187.7	protein_coding	-	5q35.3	zinc finger protein 454	Low expression observed in reference dataset
ZNF460	chr19	57280051	57293569	+	ENSG00000197714.8	protein_coding	HZF8|ZNF272	19q13.43	zinc finger protein 460	Zinc finger proteins, such as ZNF272, interact with nucleic acids and have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM, May 2004]
ZNF461	chr19	36637192	36666853	-	ENSG00000197808.11	protein_coding	GIOT-1|GIOT1|HZF28	19q13.12	zinc finger protein 461	Ubiquitous expression in testis (RPKM 1.8), thyroid (RPKM 1.6) and 25 other tissues
ZNF462	chr9	106863097	107013634	+	ENSG00000148143.12	protein_coding	WSKA|ZFPIP|Zfp462	9q31.2	zinc finger protein 462	The protein encoded by this gene belongs to C2H2-type zinc finger family of proteins. It contains multiple C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
ZNF467	chr7	149764182	149773479	-	ENSG00000181444.12	protein_coding	EZI|Zfp467	7q36.1	zinc finger protein 467	The protein encoded by this gene is a zinc finger protein whose function has not yet been elucidated in humans. However, the mouse ortholog of this protein enhances adipocyte differentiation and suppresses osteoblast differentiation in bone marrow. The mouse protein also is a transcription factor for several genes and can help recruit histone deacetylase complexes. [provided by RefSeq, Aug 2016]
ZNF468	chr19	52838008	52857649	-	ENSG00000204604.9	protein_coding	-	19q13.41	zinc finger protein 468	-
ZNF469	chr16	88427471	88440757	+	ENSG00000225614.2	protein_coding	BCS|BCS1|Zfp469	16q24.2	zinc finger protein 469	This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008]
ZNF470	chr19	56567511	56588911	+	ENSG00000197016.11	protein_coding	CZF-1	19q13.43	zinc finger protein 470	Ubiquitous expression in brain (RPKM 2.0), testis (RPKM 1.9) and 25 other tissues
ZNF471	chr19	56507843	56530221	+	ENSG00000196263.7	protein_coding	ERP1|Z1971|Zfp78	19q13.43	zinc finger protein 471	Ubiquitous expression in ovary (RPKM 3.7), endometrium (RPKM 2.7) and 24 other tissues
ZNF473	chr19	50025714	50053414	+	ENSG00000142528.15	protein_coding	ZFP100|ZN473	19q13.33	zinc finger protein 473	This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein, a component of the U7 snRNP complex, plays a role in histone 3-end pre-mRNA processing and may be required for cell cycle progression to S phase. Expression level and methylation status of this gene may be correlated with bone mineral density. [provided by RefSeq, Jul 2016]
ZNF48	chr16	30378106	30400108	+	ENSG00000180035.12	protein_coding	ZNF553	16p11.2	zinc finger protein 48	Broad expression in appendix (RPKM 1.0), fat (RPKM 0.8) and 15 other tissues
ZNF480	chr19	52297177	52325922	+	ENSG00000198464.13	protein_coding	-	19q13.41	zinc finger protein 480	-
ZNF483	chr9	111525159	111577844	+	ENSG00000173258.12	protein_coding	ZKSCAN16|ZSCAN48	9q31.3	zinc finger protein 483	Biased expression in brain (RPKM 6.4), adrenal (RPKM 2.6) and 13 other tissues
ZNF484	chr9	92845031	92878038	-	ENSG00000127081.13	protein_coding	BA526D8.4	9q22.31	zinc finger protein 484	Ubiquitous expression in testis (RPKM 2.5), brain (RPKM 1.4) and 25 other tissues
ZNF485	chr10	43606407	43617903	+	ENSG00000198298.12	protein_coding	-	10q11.21	zinc finger protein 485	-
ZNF486	chr19	20167228	20200490	+	ENSG00000256229.7	protein_coding	KRBO2	19p12	zinc finger protein 486	Broad expression in thyroid (RPKM 2.9), urinary bladder (RPKM 1.2) and 17 other tissues
ZNF490	chr19	12577961	12640098	-	ENSG00000188033.9	protein_coding	-	19p13.2-p13.13	zinc finger protein 490	-
ZNF491	chr19	11797667	11809622	+	ENSG00000177599.12	protein_coding	-	19p13.2	zinc finger protein 491	-
ZNF493	chr19	21397119	21427573	+	ENSG00000196268.11	protein_coding	-	19p12	zinc finger protein 493	-
ZNF497	chr19	58354357	58362848	-	ENSG00000174586.10	protein_coding	-	19q13.43	zinc finger protein 497	-
ZNF500	chr16	4748239	4767624	-	ENSG00000103199.13	protein_coding	ZKSCAN18|ZSCAN50	16p13.3	zinc finger protein 500	Ubiquitous expression in testis (RPKM 3.6), spleen (RPKM 2.4) and 25 other tissues
ZNF501	chr3	44729596	44737083	+	ENSG00000186446.11	protein_coding	ZNF|ZNF52	3p21.31	zinc finger protein 501	Ubiquitous expression in testis (RPKM 2.0), ovary (RPKM 1.9) and 25 other tissues
ZNF502	chr3	44712643	44723831	+	ENSG00000196653.11	protein_coding	-	3p21.31	zinc finger protein 502	-
ZNF503	chr10	75397830	75401906	-	ENSG00000165655.16	protein_coding	NOLZ-1|NOLZ1|Nlz2	10q22.2	zinc finger protein 503	Predicted to enable metal ion binding activity. Involved in G1 to G0 transition involved in cell differentiation; negative regulation of cell population proliferation; and negative regulation of gene expression. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
ZNF503-AS2	chr10	75401519	75408982	+	ENSG00000237149.5	antisense	C10orf41|NCRNA00245	10q22.2	ZNF503 antisense RNA 2	Broad expression in kidney (RPKM 3.2), adrenal (RPKM 1.8) and 22 other tissues
ZNF506	chr19	19785839	19821751	-	ENSG00000081665.13	protein_coding	-	19p13.11	zinc finger protein 506	-
ZNF507	chr19	32345594	32387667	+	ENSG00000168813.16	protein_coding	Zfp507	19q13.11	zinc finger protein 507	Ubiquitous expression in testis (RPKM 9.1), thyroid (RPKM 7.3) and 25 other tissues
ZNF510	chr9	96755865	96778129	-	ENSG00000081386.12	protein_coding	-	9q22.33	zinc finger protein 510	Ubiquitous expression in brain (RPKM 3.5), thyroid (RPKM 3.0) and 25 other tissues
ZNF511	chr10	133308475	133313162	+	ENSG00000198546.14	protein_coding	Zfp511	10q26.3	zinc finger protein 511	Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. Predicted to be part of chromatin. [provided by Alliance of Genome Resources, Apr 2022]
ZNF512	chr2	27582969	27623215	+	ENSG00000243943.9	protein_coding	-	2p23.3	zinc finger protein 512	Ubiquitous expression in ovary (RPKM 17.5), endometrium (RPKM 14.4) and 24 other tissues
ZNF512B	chr20	63956702	63969865	-	ENSG00000196700.8	protein_coding	GM632	20q13.33	zinc finger protein 512B	Ubiquitous expression in brain (RPKM 5.4), thyroid (RPKM 5.3) and 25 other tissues
ZNF513	chr2	27377231	27380790	-	ENSG00000163795.13	protein_coding	HMFT0656|RP58|Zfp513	2p23.3	zinc finger protein 513	The protein encoded by this gene is a possible transcriptional regulator involved in retinal development. Defects in this gene can be a cause of autosomal-recessive retinitis pigmentosa. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
ZNF514	chr2	95147330	95165413	-	ENSG00000144026.11	protein_coding	-	2q11.1	zinc finger protein 514	-
ZNF517	chr8	144798876	144811169	+	ENSG00000197363.9	protein_coding	-	8q24.3	zinc finger protein 517	-
ZNF518A	chr10	96129715	96205288	+	ENSG00000177853.14	protein_coding	ZNF518	10q24.1	zinc finger protein 518A	The protein encoded by this gene is a member of the krueppel C2H2-type zinc finger protein family. The encoded protein contains five zinc fingers and is likely a nuclear transcriptional regulator. Numerous transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2016]
ZNF518B	chr4	10439874	10457410	-	ENSG00000178163.7	protein_coding	-	4p16.1	zinc finger protein 518B	-
ZNF519	chr18	14057457	14132490	-	ENSG00000175322.11	protein_coding	HsT2362	18p11.21	zinc finger protein 519	Low expression observed in reference dataset
ZNF521	chr18	25061926	25352190	-	ENSG00000198795.10	protein_coding	EHZF|Evi3	18q11.2	zinc finger protein 521	Enables protein domain specific binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within neuron fate commitment. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
ZNF524	chr19	55600022	55603138	+	ENSG00000171443.6	protein_coding	-	19q13.42	zinc finger protein 524	-
ZNF525	chr19	53365693	53392217	+	ENSG00000203326.11	protein_coding	-	19q13.42	zinc finger protein 525	-
ZNF526	chr19	42220271	42228201	+	ENSG00000167625.10	protein_coding	-	19q13.2	zinc finger protein 526	Ubiquitous expression in ovary (RPKM 3.0), testis (RPKM 2.9) and 25 other tissues
ZNF527	chr19	37371061	37393066	+	ENSG00000189164.14	protein_coding	-	19q13.12	zinc finger protein 527	-
ZNF528	chr19	52397849	52418412	+	ENSG00000167555.13	protein_coding	-	19q13.41	zinc finger protein 528	Ubiquitous expression in thyroid (RPKM 4.6), ovary (RPKM 4.2) and 25 other tissues
ZNF529	chr19	36534774	36605276	-	ENSG00000186020.12	protein_coding	-	19q13.12	zinc finger protein 529	-
ZNF532	chr18	58862600	58986480	+	ENSG00000074657.13	protein_coding	-	18q21.32	zinc finger protein 532	-
ZNF536	chr19	30228290	30713538	+	ENSG00000198597.8	protein_coding	-	19q12	zinc finger protein 536	Biased expression in brain (RPKM 2.6), thyroid (RPKM 0.8) and 11 other tissues
ZNF540	chr19	37551406	37614097	+	ENSG00000171817.16	protein_coding	Nbla10512	19q13.12	zinc finger protein 540	Ubiquitous expression in brain (RPKM 3.9), thyroid (RPKM 3.7) and 23 other tissues
ZNF542P	chr19	56368099	56379828	+	ENSG00000240225.10	transcribed_unprocessed_pseudogene	ZNF542	19q13.43	zinc finger protein 542, pseudogene	Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
ZNF543	chr19	57320509	57330776	+	ENSG00000178229.7	protein_coding	-	19q13.43	zinc finger protein 543	-
ZNF544	chr19	58228594	58277495	+	ENSG00000198131.13	protein_coding	-	19q13.43	zinc finger protein 544	-
ZNF546	chr19	39984134	40021041	+	ENSG00000187187.13	protein_coding	ZNF49	19q13.2	zinc finger protein 546	Broad expression in testis (RPKM 3.3), thyroid (RPKM 0.9) and 22 other tissues
ZNF547	chr19	57363477	57379565	+	ENSG00000152433.14	protein_coding	MIP-2A|SEDLP1|TRAPPC2.19|TRAPPC2B|TRAPPC2P1	19q13.43	zinc finger protein 547	Ubiquitous expression in testis (RPKM 1.8), adrenal (RPKM 1.6) and 25 other tissues
ZNF548	chr19	57389850	57402992	+	ENSG00000188785.11	protein_coding	-	19q13.43	zinc finger protein 548	-
ZNF549	chr19	57527325	57557542	+	ENSG00000121406.8	protein_coding	-	19q13.43	zinc finger protein 549	-
ZNF551	chr19	57681969	57717301	+	ENSG00000204519.10	protein_coding	-	19q13.43	zinc finger protein 551	-
ZNF554	chr19	2819874	2835773	+	ENSG00000172006.11	protein_coding	-	19p13.3	zinc finger protein 554	-
ZNF555	chr19	2841435	2860484	+	ENSG00000186300.11	protein_coding	-	19p13.3	zinc finger protein 555	-
ZNF556	chr19	2867335	2883445	+	ENSG00000172000.7	protein_coding	-	19p13.3	zinc finger protein 556	Biased expression in ovary (RPKM 2.7), testis (RPKM 0.5) and 4 other tissues
ZNF557	chr19	7069444	7087968	+	ENSG00000130544.11	protein_coding	-	19p13.2	zinc finger protein 557	-
ZNF558	chr19	8806170	8832328	-	ENSG00000167785.8	protein_coding	-	19p13.2	zinc finger protein 558	-
ZNF559	chr19	9323772	9351162	+	ENSG00000188321.13	protein_coding	NBLA00121	19p13.2	zinc finger protein 559	Ubiquitous expression in ovary (RPKM 6.6), endometrium (RPKM 6.0) and 25 other tissues
ZNF560	chr19	9466507	9498607	-	ENSG00000198028.3	protein_coding	-	19p13.2	zinc finger protein 560	-
ZNF561	chr19	9604680	9621399	-	ENSG00000171469.10	protein_coding	-	19p13.2	zinc finger protein 561	-
ZNF561-AS1	chr19	9621291	9645896	+	ENSG00000267106.5	processed_transcript	C19orf82	19p13.2	ZNF561 antisense RNA 1 (head to head)	-
ZNF563	chr19	12317477	12333720	-	ENSG00000188868.13	protein_coding	-	19p13.2	zinc finger protein 563	-
ZNF564	chr19	12525370	12551542	-	ENSG00000249709.7	protein_coding	-	19p13.2	zinc finger protein 564	-
ZNF565	chr19	36182060	36246257	-	ENSG00000196357.11	protein_coding	-	19q13.12	zinc finger protein 565	-
ZNF566	chr19	36445119	36489902	-	ENSG00000186017.14	protein_coding	-	19q13.12	zinc finger protein 566	-
ZNF567	chr19	36687612	36727701	+	ENSG00000189042.13	protein_coding	-	19q13.12	zinc finger protein 567	Ubiquitous expression in testis (RPKM 2.7), endometrium (RPKM 1.8) and 25 other tissues
ZNF568	chr19	36916329	36998700	+	ENSG00000198453.12	protein_coding	ZFP568	19q13.12	zinc finger protein 568	Ubiquitous expression in thyroid (RPKM 1.4), ovary (RPKM 1.3) and 25 other tissues
ZNF569	chr19	37411155	37469275	-	ENSG00000196437.10	protein_coding	ZAP1|ZNF|Zfp74	19q13.12	zinc finger protein 569	Broad expression in testis (RPKM 4.0), thyroid (RPKM 2.7) and 24 other tissues
ZNF57	chr19	2900898	2918476	+	ENSG00000171970.12	protein_coding	ZNF424	19p13.3	zinc finger protein 57	Broad expression in testis (RPKM 9.6), esophagus (RPKM 4.1) and 24 other tissues
ZNF570	chr19	37467585	37488652	+	ENSG00000171827.10	protein_coding	-	19q13.12	zinc finger protein 570	-
ZNF571	chr19	37554782	37594790	-	ENSG00000180479.13	protein_coding	HSPC059	19q13.12	zinc finger protein 571	Ubiquitous expression in adrenal (RPKM 2.7), testis (RPKM 2.3) and 25 other tissues
ZNF571-AS1	chr19	37548914	37587348	+	ENSG00000267470.5	antisense	-	19q13.12	ZNF571 antisense RNA 1	-
ZNF572	chr8	124973298	124979389	+	ENSG00000180938.5	protein_coding	-	8q24.13	zinc finger protein 572	-
ZNF573	chr19	37735833	37817300	-	ENSG00000189144.13	protein_coding	-	19q13.12	zinc finger protein 573	-
ZNF574	chr19	42068477	42081549	+	ENSG00000105732.12	protein_coding	FP972	19q13.2	zinc finger protein 574	Broad expression in testis (RPKM 9.8), ovary (RPKM 4.8) and 25 other tissues
ZNF575	chr19	43525497	43536130	+	ENSG00000176472.10	protein_coding	-	19q13.31	zinc finger protein 575	-
ZNF576	chr19	43596392	43601157	+	ENSG00000124444.15	protein_coding	-	19q13.31	zinc finger protein 576	Ubiquitous expression in prostate (RPKM 1.5), fat (RPKM 1.4) and 25 other tissues
ZNF577	chr19	51804816	51890950	-	ENSG00000161551.14	protein_coding	-	19q13.41	zinc finger protein 577	-
ZNF580	chr19	55635016	55643469	+	ENSG00000213015.8	protein_coding	-	19q13.42	zinc finger protein 580	-
ZNF581	chr19	55635459	55645622	+	ENSG00000171425.9	protein_coding	HSPC189	19q13.42	zinc finger protein 581	Predicted to enable DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
ZNF582	chr19	56375846	56393545	-	ENSG00000018869.16	protein_coding	-	19q13.43	zinc finger protein 582	Ubiquitous expression in thyroid (RPKM 2.0), testis (RPKM 2.0) and 25 other tissues
ZNF582-DT	chr19	 56393676	56399175	+	ENSG00000267454	ncRNA	ZNF582-AS1	19q13.43	ZNF582 divergent transcript	-
ZNF583	chr19	56397966	56436035	+	ENSG00000198440.9	protein_coding	-	19q13.43	zinc finger protein 583	-
ZNF584	chr19	58401504	58418327	+	ENSG00000171574.17	protein_coding	-	19q13.43	zinc finger protein 584	-
ZNF585A	chr19	37106734	37172741	-	ENSG00000196967.10	protein_coding	Zfp27	19q13.12	zinc finger protein 585A	Ubiquitous expression in thyroid (RPKM 3.0), testis (RPKM 2.5) and 25 other tissues
ZNF585B	chr19	37181579	37218153	-	ENSG00000245680.9	protein_coding	SZFP41|Zfp27	19q13.12	zinc finger protein 585B	Ubiquitous expression in thyroid (RPKM 4.3), ovary (RPKM 3.0) and 25 other tissues
ZNF586	chr19	57769655	57819939	+	ENSG00000083828.15	protein_coding	-	19q13.43	zinc finger protein 586	-
ZNF587	chr19	57849857	57865112	+	ENSG00000198466.11	protein_coding	ZF6	19q13.43	zinc finger protein 587	Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
ZNF587B	chr19	57819741	57846238	+	ENSG00000269343.6	protein_coding	-	19q13.43	zinc finger protein 587B	-
ZNF589	chr3	48241100	48299253	+	ENSG00000164048.13	protein_coding	SZF1	3p21.31	zinc finger protein 589	Ubiquitous expression in thyroid (RPKM 4.8), prostate (RPKM 4.7) and 24 other tissues
ZNF592	chr15	84748635	84806432	+	ENSG00000166716.9	protein_coding	CAMOS|SCAR5	15q25.3	zinc finger protein 592	This gene is thought to play a role in a complex developmental pathway and the regulation of genes involved in cerebellar development. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia. [provided by RefSeq, Jan 2011]
ZNF593	chr1	26169871	26170873	+	ENSG00000142684.8	protein_coding	ZT86	1p36.11	zinc finger protein 593	Ubiquitous expression in colon (RPKM 5.2), kidney (RPKM 4.4) and 25 other tissues
ZNF594	chr17	5179536	5191883	-	ENSG00000180626.9	protein_coding	-	17p13.2	zinc finger protein 594	Broad expression in testis (RPKM 4.6), ovary (RPKM 3.6) and 24 other tissues
ZNF595	chr4	53285	88211	+	ENSG00000272602.5	protein_coding	-	4p16.3	zinc finger protein 595	Ubiquitous expression in placenta (RPKM 5.3), ovary (RPKM 4.1) and 25 other tissues
ZNF597	chr16	3432422	3443542	-	ENSG00000167981.5	protein_coding	HIT-4	16p13.3	zinc finger protein 597	This gene encodes a protein with multiple zinc finger domains. Loss of the related gene in rodents results in defects in neural development and embryonic lethality in mutant homozygotes. This gene is adjacent to a differentially methylated region (DMR) and is imprinted and maternally expressed. [provided by RefSeq, Nov 2015]
ZNF598	chr16	1997654	2009823	-	ENSG00000167962.13	protein_coding	HEL2	16p13.3	zinc finger protein 598, E3 ubiquitin ligase	Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This protein and Grb10-interacting GYF protein 2 have been identified as a components of the mammalian 4EHP (m4EHP) complex. The complex is thought to function as a translation repressor in embryonic development. [provided by RefSeq, Oct 2012]
ZNF602P	chr6	28115628	28116551	+	ENSG00000219392.1	unprocessed_pseudogene	dJ265C24.5	6p22.1	zinc finger protein 602, pseudogene	-
ZNF603P	chr6	28176188	28176674	+	ENSG00000216901.1	unprocessed_pseudogene	p373c6.7	6p22.1	zinc finger protein 603, pseudogene	-
ZNF605	chr12	132918308	132956306	-	ENSG00000196458.10	protein_coding	-	12q24.33	zinc finger protein 605	Ubiquitous expression in thyroid (RPKM 5.2), ovary (RPKM 3.1) and 25 other tissues
ZNF606	chr19	57977053	58003349	-	ENSG00000166704.11	protein_coding	ZNF328	19q13.43	zinc finger protein 606	This gene encodes a zinc finger protein containing a Kruppel-associated box (KRAB) domain at its N-terminus, followed by contiguous C2H2 zinc finger motifs. The encoded protein is a nuclear protein that can act as a transcriptional repressor of growth factor-mediated signaling pathways in a reporter gene assay. This protein has been shown to interact with the SRY-box 9 gene product, and suppresses its transcriptional activity by inhibiting its DNA binding activity. Reduced expression of this gene promotes chondrocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
ZNF607	chr19	37696363	37719790	-	ENSG00000198182.12	protein_coding	-	19q13.12	zinc finger protein 607	-
ZNF608	chr5	124636913	124748807	-	ENSG00000168916.15	protein_coding	NY-REN-36	5q23.2	zinc finger protein 608	Ubiquitous expression in lung (RPKM 4.4), testis (RPKM 4.3) and 25 other tissues
ZNF609	chr15	64460742	64686068	+	ENSG00000180357.9	protein_coding	-	15q22.31	zinc finger protein 609	-
ZNF613	chr19	51927147	51948759	+	ENSG00000176024.17	protein_coding	-	19q13.41	zinc finger protein 613	-
ZNF618	chr9	113876282	114056591	+	ENSG00000157657.14	protein_coding	FP13169|NEDD10	9q32	zinc finger protein 618	Ubiquitous expression in ovary (RPKM 1.9), kidney (RPKM 1.8) and 25 other tissues
ZNF619	chr3	40477113	40490236	+	ENSG00000177873.12	protein_coding	-	3p22.1	zinc finger protein 619	-
ZNF622	chr5	16451519	16465792	-	ENSG00000173545.4	protein_coding	ZPR9	5p15.1	zinc finger protein 622	Ubiquitous expression in heart (RPKM 14.7), colon (RPKM 14.5) and 25 other tissues
ZNF623	chr8	143636013	143656418	+	ENSG00000183309.11	protein_coding	-	8q24.3	zinc finger protein 623	-
ZNF624	chr17	16620737	16653856	-	ENSG00000197566.9	protein_coding	-	17p11.2	zinc finger protein 624	-
ZNF625	chr19	12142090	12156729	-	ENSG00000257591.5	protein_coding	-	19p13.2	zinc finger protein 625	-
ZNF626	chr19	20620061	20661596	-	ENSG00000188171.15	protein_coding	-	19p12	zinc finger protein 626	-
ZNF627	chr19	11559374	11619135	+	ENSG00000198551.9	protein_coding	-	19p13.2	zinc finger protein 627	-
ZNF628	chr19	55476332	55484487	+	ENSG00000197483.9	protein_coding	ZEC|Zfp628	19q13.42	zinc finger protein 628	Zinc finger proteins (ZNFs), which bind nucleic acids, perform many key functions, the most important of which is regulating transcription. See ZNF91 (MIM 603971) for general information on ZNFs.[supplied by OMIM, Mar 2008]
ZNF629	chr16	30778449	30787202	-	ENSG00000102870.5	protein_coding	ZNF|ZNF65	16p11.2	zinc finger protein 629	Ubiquitous expression in heart (RPKM 5.1), brain (RPKM 4.8) and 25 other tissues
ZNF630	chrX	47983356	48071658	-	ENSG00000221994.10	protein_coding	dJ54B20.2	Xp11.23	zinc finger protein 630	This gene encodes a protein containing an N-terminal Kruppel-associated box-containing (KRAB) domain and 13 Kruppel-type C2H2 zinc finger domains. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
ZNF638	chr2	71276561	71435069	+	ENSG00000075292.18	protein_coding	NP220|ZFML|Zfp638	2p13.2	zinc finger protein 638	The protein encoded by this gene is a nucleoplasmic protein. It binds cytidine-rich sequences in double-stranded DNA. This protein has three types of domains: MH1, MH2 (repeated three times) and MH3. It is associated with packaging, transferring, or processing transcripts. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
ZNF638-IT1	chr2	71373938	71376320	+	ENSG00000281195.1	processed_transcript	-	-	-	-
ZNF639	chr3	179322991	179338583	+	ENSG00000121864.9	protein_coding	ANC-2H01|ANC_2H01|ZASC1	3q26.33	zinc finger protein 639	This gene encodes a member of the Kruppel-like zinc finger family of proteins. Amplification and overexpression of this gene have been observed in esophageal squamous cell carcinoma. The encoded protein has been shown to bind DNA in a sequence-specific manner and may regulate HIV-1 gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
ZNF641	chr12	48337180	48351414	-	ENSG00000167528.12	protein_coding	-	12q13.11	zinc finger protein 641	-
ZNF646	chr16	31074422	31084196	+	ENSG00000167395.10	protein_coding	-	16p11.2	zinc finger protein 646	-
ZNF646P1	chr13	53408882	53409876	-	ENSG00000274316.1	unprocessed_pseudogene	-	13q14.3	zinc finger protein 646 pseudogene 1	-
ZNF649	chr19	51889224	51905040	-	ENSG00000198093.10	protein_coding	-	19q13.41	zinc finger protein 649	-
ZNF652	chr17	49289206	49362473	-	ENSG00000198740.8	protein_coding	-	17q21.32-q21.33	zinc finger protein 652	-
ZNF652P1	chr3	50786674	50788285	-	ENSG00000235278.2	processed_pseudogene	ZNF652P	3p21.2	zinc finger protein 652 pseudogene 1	-
ZNF653	chr19	11483427	11505923	-	ENSG00000161914.9	protein_coding	E430039K05Rik|ZIP67	19p13.2	zinc finger protein 653	Broad expression in testis (RPKM 5.2), brain (RPKM 2.1) and 25 other tissues
ZNF654	chr3	88059274	88144665	+	ENSG00000175105.6	protein_coding	-	3p11.1	zinc finger protein 654	-
ZNF655	chr7	99558406	99576453	+	ENSG00000197343.10	protein_coding	VIK|VIK-1	7q22.1	zinc finger protein 655	This gene encodes a zinc finger protein. The zinc finger proteins are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ZNF66	chr19	20776304	20807322	+	ENSG00000160229.11	protein_coding	ZNF66P	19p12	zinc finger protein 66	Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to be located in nucleus. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
ZNF660	chr3	44578223	44599694	+	ENSG00000144792.9	protein_coding	-	3p21.31	zinc finger protein 660	Broad expression in ovary (RPKM 1.9), endometrium (RPKM 1.3) and 22 other tissues
ZNF662	chr3	42905731	42917641	+	ENSG00000182983.14	protein_coding	-	3p22.1	zinc finger protein 662	-
ZNF664	chr12	123971845	124015439	+	ENSG00000179195.15	protein_coding	ZFOC1|ZNF176	12q24.31	zinc finger protein 664	Ubiquitous expression in thyroid (RPKM 67.7), small intestine (RPKM 46.8) and 25 other tissues
ZNF667	chr19	56439325	56478065	-	ENSG00000198046.11	protein_coding	MIPU1	19q13.43	zinc finger protein 667	Broad expression in brain (RPKM 3.0), thyroid (RPKM 2.8) and 22 other tissues
ZNF668	chr16	31060843	31074320	-	ENSG00000167394.12	protein_coding	-	16p11.2	zinc finger protein 668	-
ZNF669	chr1	247099962	247104372	-	ENSG00000188295.14	protein_coding	-	1q44	zinc finger protein 669	-
ZNF671	chr19	57719751	57727624	-	ENSG00000083814.13	protein_coding	-	19q13.43	zinc finger protein 671	-
ZNF676	chr19	22179091	22196951	-	ENSG00000196109.6	protein_coding	-	19p12	zinc finger protein 676	-
ZNF678	chr1	227563543	227677443	+	ENSG00000181450.17	protein_coding	-	1q42.13	zinc finger protein 678	-
ZNF682	chr19	19997058	20039506	-	ENSG00000197124.11	protein_coding	BC39498_3	19p12	zinc finger protein 682	Ubiquitous expression in thyroid (RPKM 2.3), skin (RPKM 2.1) and 23 other tissues
ZNF683	chr1	26361634	26374522	-	ENSG00000176083.17	protein_coding	Hobit	1p36.11	zinc finger protein 683	Biased expression in testis (RPKM 20.6), salivary gland (RPKM 1.7) and 1 other tissue
ZNF684	chr1	40531561	40548169	+	ENSG00000117010.15	protein_coding	-	1p34.2	zinc finger protein 684	-
ZNF687	chr1	151281618	151292180	+	ENSG00000143373.17	protein_coding	PDB6	1q21.3	zinc finger protein 687	This gene encodes C2H2 zinc finger protein. The encoded protein may play a role in bone differentiation and development. Mutations in this gene are the cause of Paget disease of bone-6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
ZNF688	chr16	30569346	30572734	-	ENSG00000229809.8	protein_coding	-	16p11.2	zinc finger protein 688	-
ZNF689	chr16	30602558	30624012	-	ENSG00000156853.12	protein_coding	TIPUH1	16p11.2	zinc finger protein 689	Broad expression in testis (RPKM 14.6), ovary (RPKM 2.9) and 24 other tissues
ZNF69	chr19	11887784	11914329	+	ENSG00000198429.9	protein_coding	Cos5|hZNF3	19p13.2	zinc finger protein 69	Ubiquitous expression in kidney (RPKM 1.9), colon (RPKM 1.9) and 25 other tissues
ZNF691	chr1	42846573	42852477	+	ENSG00000164011.17	protein_coding	Zfp691	1p34.2	zinc finger protein 691	Ubiquitous expression in thyroid (RPKM 2.2), ovary (RPKM 1.8) and 25 other tissues
ZNF696	chr8	143289676	143298061	+	ENSG00000185730.7	protein_coding	-	8q24.3	zinc finger protein 696	-
ZNF697	chr1	119619422	119647773	-	ENSG00000143067.4	protein_coding	-	1p12	zinc finger protein 697	-
ZNF699	chr19	9294275	9309838	-	ENSG00000196110.7	protein_coding	DEGCAGS|hang	19p13.2	zinc finger protein 699	Ubiquitous expression in ovary (RPKM 1.9), endometrium (RPKM 1.5) and 25 other tissues
ZNF7	chr8	144827464	144847509	+	ENSG00000147789.15	protein_coding	HF.16|KOX4|zf30	8q24.3	zinc finger protein 7	Ubiquitous expression in testis (RPKM 4.3), endometrium (RPKM 3.5) and 25 other tissues
ZNF70	chr22	23738678	23751092	-	ENSG00000187792.4	protein_coding	Cos17	22q11.23	zinc finger protein 70	Ubiquitous expression in ovary (RPKM 2.8), thyroid (RPKM 1.7) and 24 other tissues
ZNF700	chr19	11925068	11950773	+	ENSG00000196757.7	protein_coding	-	19p13.2	zinc finger protein 700	-
ZNF701	chr19	52555457	52587174	+	ENSG00000167562.12	protein_coding	-	19q13.41	zinc finger protein 701	-
ZNF703	chr8	37695751	37700021	+	ENSG00000183779.6	protein_coding	NLZ1|ZEPPO1|ZNF503L|ZPO1	8p11.23	zinc finger protein 703	Broad expression in colon (RPKM 2.6), kidney (RPKM 2.0) and 18 other tissues
ZNF704	chr8	80628451	80874781	-	ENSG00000164684.13	protein_coding	Gig1	8q21.13	zinc finger protein 704	Ubiquitous expression in endometrium (RPKM 8.6), ovary (RPKM 8.1) and 24 other tissues
ZNF705D	chr8	12104389	12115516	+	ENSG00000215343.7	protein_coding	ZNF705C	8p23.1	zinc finger protein 705D	Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
ZNF707	chr8	143684452	143713898	+	ENSG00000181135.15	protein_coding	-	8q24.3	zinc finger protein 707	-
ZNF708	chr19	21291160	21329425	-	ENSG00000182141.10	protein_coding	KOX8|ZNF15|ZNF15L1	19p12	zinc finger protein 708	Ubiquitous expression in brain (RPKM 4.2), ovary (RPKM 3.4) and 25 other tissues
ZNF709	chr19	12461184	12513854	-	ENSG00000242852.6	protein_coding	-	19p13.2	zinc finger protein 709	-
ZNF71	chr19	56595264	56626481	+	ENSG00000197951.8	protein_coding	EZFIT	19q13.43	zinc finger protein 71	Ubiquitous expression in endometrium (RPKM 1.6), fat (RPKM 1.6) and 25 other tissues
ZNF710	chr15	90001392	90082206	+	ENSG00000140548.9	protein_coding	-	15q26.1	zinc finger protein 710	-
ZNF713	chr7	55887475	55942225	+	ENSG00000178665.14	protein_coding	-	7p11.2	zinc finger protein 713	Broad expression in brain (RPKM 2.1), testis (RPKM 1.9) and 25 other tissues
ZNF721	chr4	425815	499156	-	ENSG00000182903.15	protein_coding	-	4p16.3	zinc finger protein 721	-
ZNF727	chr7	64045443	64078549	+	ENSG00000214652.5	protein_coding	ZNF727P	7q11.21	zinc finger protein 727	Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
ZNF728	chr19	22975468	23003176	-	ENSG00000269067.1	protein_coding	-	19p12	zinc finger protein 728	-
ZNF729	chr19	22286408	22317176	+	ENSG00000196350.8	protein_coding	-	19p12	zinc finger protein 729	-
ZNF732	chr4	270675	305321	-	ENSG00000186777.11	protein_coding	-	4p16.3	zinc finger protein 732	Broad expression in testis (RPKM 1.2), lymph node (RPKM 0.4) and 20 other tissues
ZNF736	chr7	64307459	64354860	+	ENSG00000234444.9	protein_coding	-	7q11.21	zinc finger protein 736	-
ZNF738	chr19	21358930	21379302	+	ENSG00000172687.13	protein_coding	-	19p12	zinc finger protein 738	-
ZNF74	chr22	20394115	20408461	+	ENSG00000185252.18	protein_coding	COS52|ZFP520|ZNF520|hZNF7	22q11.21	zinc finger protein 74	Ubiquitous expression in ovary (RPKM 2.9), endometrium (RPKM 2.2) and 25 other tissues
ZNF740	chr12	53180700	53195141	+	ENSG00000139651.10	protein_coding	Zfp740	12q13.13	zinc finger protein 740	Ubiquitous expression in thyroid (RPKM 8.1), ovary (RPKM 7.3) and 25 other tissues
ZNF746	chr7	149472794	149497817	-	ENSG00000181220.15	protein_coding	PARIS	7q36.1	zinc finger protein 746	Broad expression in testis (RPKM 10.6), bone marrow (RPKM 6.7) and 25 other tissues
ZNF747	chr16	30530367	30535347	-	ENSG00000169955.7	protein_coding	-	16p11.2	zinc finger protein 747	Ubiquitous expression in prostate (RPKM 3.6), kidney (RPKM 3.3) and 25 other tissues
ZNF749	chr19	57435329	57445485	+	ENSG00000186230.6	protein_coding	-	19q13.43	zinc finger protein 749	-
ZNF750	chr17	82829435	82840578	-	ENSG00000141579.6	protein_coding	ZFP750	17q25.3	zinc finger protein 750	This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements. [provided by RefSeq, Jul 2008]
ZNF75A	chr16	3305406	3318852	+	ENSG00000162086.14	protein_coding	-	16p13.3	zinc finger protein 75a	-
ZNF76	chr6	35258909	35295985	+	ENSG00000065029.14	protein_coding	D6S229E|ZNF523|Zfp523	6p21.31	zinc finger protein 76	Ubiquitous expression in thyroid (RPKM 13.0), testis (RPKM 11.1) and 25 other tissues
ZNF763	chr19	11965037	11980381	+	ENSG00000197054.11	protein_coding	ZNF|ZNF440L	19p13.2	zinc finger protein 763	Ubiquitous expression in ovary (RPKM 2.5), thyroid (RPKM 2.2) and 25 other tissues
ZNF764	chr16	30553764	30558498	-	ENSG00000169951.9	protein_coding	-	16p11.2	zinc finger protein 764	-
ZNF767P	chr7	149547154	149624752	-	ENSG00000133624.13	transcribed_unprocessed_pseudogene	ZNF767	7q36.1	zinc finger family member 767, pseudogene	Ubiquitous expression in spleen (RPKM 6.9), lymph node (RPKM 6.1) and 25 other tissues
ZNF768	chr16	30524001	30526821	-	ENSG00000169957.9	protein_coding	-	16p11.2	zinc finger protein 768	-
ZNF770	chr15	34978341	34988287	-	ENSG00000198146.4	protein_coding	PRO1914	15q14	zinc finger protein 770	Ubiquitous expression in thyroid (RPKM 32.4), skin (RPKM 18.5) and 24 other tissues
ZNF771	chr16	30407297	30431108	+	ENSG00000179965.11	protein_coding	DSC43	16p11.2	zinc finger protein 771	Broad expression in brain (RPKM 2.2), kidney (RPKM 2.2) and 20 other tissues
ZNF772	chr19	57466663	57477570	-	ENSG00000197128.11	protein_coding	-	19q13.43	zinc finger protein 772	-
ZNF773	chr19	57499915	57518404	+	ENSG00000152439.12	protein_coding	ZNF419B	19q13.43	zinc finger protein 773	Ubiquitous expression in thyroid (RPKM 2.6), ovary (RPKM 2.1) and 25 other tissues
ZNF774	chr15	90352245	90369146	+	ENSG00000196391.10	protein_coding	-	15q26.1	zinc finger protein 774	-
ZNF775	chr7	150379335	150398631	+	ENSG00000196456.11	protein_coding	-	7q36.1	zinc finger protein 775	-
ZNF777	chr7	149431363	149461123	-	ENSG00000196453.7	protein_coding	-	7q36.1	zinc finger protein 777	Ubiquitous expression in ovary (RPKM 4.5), brain (RPKM 4.0) and 25 other tissues
ZNF778	chr16	89217703	89237071	+	ENSG00000170100.13	protein_coding	-	16q24.3	zinc finger protein 778	Ubiquitous expression in testis (RPKM 3.1), brain (RPKM 2.1) and 25 other tissues
ZNF780A	chr19	40069152	40090938	-	ENSG00000197782.14	protein_coding	ZNF780	19q13.2	zinc finger protein 780A	Ubiquitous expression in thyroid (RPKM 2.8), lymph node (RPKM 2.3) and 25 other tissues
ZNF781	chr19	37667751	37692322	-	ENSG00000196381.10	protein_coding	-	19q13.12	zinc finger protein 781	-
ZNF782	chr9	96816472	96875623	-	ENSG00000196597.11	protein_coding	-	9q22.33	zinc finger protein 782	-
ZNF783	chr7	149262171	149297302	+	ENSG00000204946.9	protein_coding	-	7q36.1	zinc finger protein 783	-
ZNF784	chr19	55620742	55624601	-	ENSG00000179922.5	protein_coding	-	19q13.42	zinc finger protein 784	-
ZNF785	chr16	30573740	30585771	-	ENSG00000197162.9	protein_coding	ZNF688	16p11.2	zinc finger protein 785	Ubiquitous expression in endometrium (RPKM 2.1), ovary (RPKM 1.9) and 25 other tissues
ZNF786	chr7	149069643	149090782	-	ENSG00000197362.14	protein_coding	-	7q36.1	zinc finger protein 786	-
ZNF788P	chr19	 12092297	12114753	+	-	pseudogene	ZNF788	19p13.2	zinc finger family member 788, pseudogene	-
ZNF789	chr7	99472841	99503650	+	ENSG00000198556.13	protein_coding	-	7q22.1	zinc finger protein 789	-
ZNF79	chr9	127424374	127445372	+	ENSG00000196152.10	protein_coding	pT7	9q33.3	zinc finger protein 79	Ubiquitous expression in testis (RPKM 3.5), thyroid (RPKM 1.9) and 25 other tissues
ZNF790	chr19	36817428	36850787	-	ENSG00000197863.8	protein_coding	-	19q13.12	zinc finger protein 790	-
ZNF791	chr19	12610918	12633840	+	ENSG00000173875.13	protein_coding	-	19p13.13	zinc finger protein 791	-
ZNF792	chr19	34956354	34964049	-	ENSG00000180884.9	protein_coding	-	19q13.11	zinc finger protein 792	Ubiquitous expression in lung (RPKM 2.5), lymph node (RPKM 2.0) and 25 other tissues
ZNF793	chr19	37506939	37548762	+	ENSG00000188227.12	protein_coding	-	19q13.12	zinc finger protein 793	-
ZNF793-AS1	chr19	37497159	37507046	-	ENSG00000266916.5	antisense	-	19q13.12	ZNF793 antisense RNA 1 (head to head)	-
ZNF799	chr19	12390016	12401271	-	ENSG00000196466.10	protein_coding	HIT-40|ZNF842	19p13.2	zinc finger protein 799	Ubiquitous expression in placenta (RPKM 2.5), endometrium (RPKM 2.0) and 25 other tissues
ZNF80	chr3	114234631	114237578	-	ENSG00000174255.6	protein_coding	pT17	3q13.31	zinc finger protein 80	Biased expression in lymph node (RPKM 1.1), appendix (RPKM 0.6) and 7 other tissues
ZNF800	chr7	127346790	127431924	-	ENSG00000048405.9	protein_coding	-	7q31.33	zinc finger protein 800	-
ZNF804A	chr2	184598366	184939492	+	ENSG00000170396.7	protein_coding	C2orf10	2q32.1	zinc finger protein 804A	The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]
ZNF812P	chr19	9689924	9700776	-	ENSG00000224689.9	transcribed_unprocessed_pseudogene	ZNF812	19p13.2	zinc finger protein 812, pseudogene	-
ZNF813	chr19	53467735	53496255	+	ENSG00000198346.10	protein_coding	-	19q13.42	zinc finger protein 813	-
ZNF815P	chr7	5823160	5854435	+	ENSG00000235944.7	transcribed_unprocessed_pseudogene	ZNF815	7p22.1	zinc finger protein 815, pseudogene	-
ZNF816	chr19	52949379	52962911	-	ENSG00000180257.13	protein_coding	ZNF816A	19q13.41	zinc finger protein 816	Ubiquitous expression in prostate (RPKM 4.4), urinary bladder (RPKM 4.0) and 25 other tissues
ZNF821	chr16	71859680	71895336	-	ENSG00000102984.14	protein_coding	-	16q22.2	zinc finger protein 821	Broad expression in testis (RPKM 7.7), brain (RPKM 2.9) and 23 other tissues
ZNF823	chr19	11721265	11739009	-	ENSG00000197933.12	protein_coding	HSZFP36	19p13.2	zinc finger protein 823	Ubiquitous expression in esophagus (RPKM 2.9), colon (RPKM 2.7) and 25 other tissues
ZNF827	chr4	145757627	145938635	-	ENSG00000151612.15	protein_coding	-	4q31.21-q31.22	zinc finger protein 827	-
ZNF829	chr19	36888124	36916291	-	ENSG00000185869.14	protein_coding	-	19q13.12	zinc finger protein 829	-
ZNF830	chr17	34961530	34963775	+	ENSG00000198783.5	protein_coding	CCDC16|OMCG1	17q12	zinc finger protein 830	-
ZNF831	chr20	59123381	59259113	+	ENSG00000124203.6	protein_coding	C20orf174	20q13.32	zinc finger protein 831	Biased expression in lymph node (RPKM 2.3), spleen (RPKM 1.1) and 10 other tissues
ZNF835	chr19	56661981	56671783	-	ENSG00000127903.13	protein_coding	BC37295_3	19q13.43	zinc finger protein 835	Ubiquitous expression in ovary (RPKM 1.2), brain (RPKM 0.9) and 20 other tissues
ZNF837	chr19	58367618	58381060	-	ENSG00000152475.6	protein_coding	-	19q13.43	zinc finger protein 837	Low expression observed in reference dataset
ZNF839	chr14	102317377	102342702	+	ENSG00000022976.15	protein_coding	C14orf131	14q32.31	zinc finger protein 839	Ubiquitous expression in testis (RPKM 6.0), spleen (RPKM 2.7) and 25 other tissues
ZNF84	chr12	133037292	133063304	+	ENSG00000198040.10	protein_coding	HPF2	12q24.33|map from Rosati ref via FISH [AFS]	zinc finger protein 84	Ubiquitous expression in brain (RPKM 7.4), endometrium (RPKM 6.1) and 25 other tissues
ZNF843	chr16	31432593	31443160	-	ENSG00000176723.9	protein_coding	-	16p11.2	zinc finger protein 843	-
ZNF844	chr19	12064699	12081565	+	ENSG00000223547.9	protein_coding	-	19p13.2	zinc finger protein 844	-
ZNF846	chr19	9751993	9793180	-	ENSG00000196605.7	protein_coding	-	19p13.2	zinc finger protein 846	-
ZNF847P	chr1	227696892	227706699	-	ENSG00000215812.5	unprocessed_pseudogene	gm127	1q42.13	zinc finger protein 847, pseudogene	-
ZNF85	chr19	20923222	20950697	+	ENSG00000105750.14	protein_coding	HPF4|HTF1	19p12	zinc finger protein 85	Broad expression in testis (RPKM 3.9), thyroid (RPKM 2.6) and 21 other tissues
ZNF850	chr19	36714383	36772825	-	ENSG00000267041.5	protein_coding	ZNF850P	19q13.12	zinc finger protein 850	Broad expression in bone marrow (RPKM 1.4), placenta (RPKM 0.7) and 23 other tissues
ZNF852	chr3	44498970	44510636	-	ENSG00000178917.15	protein_coding	-	3p21.31	zinc finger protein 852	Ubiquitous expression in prostate (RPKM 1.1), spleen (RPKM 1.0) and 25 other tissues
ZNF853	chr7	6615617	6624290	+	ENSG00000236609.3	protein_coding	-	7p22.1	zinc finger protein 853	Ubiquitous expression in ovary (RPKM 5.7), brain (RPKM 5.5) and 23 other tissues
ZNF862	chr7	149838367	149867479	+	ENSG00000106479.10	protein_coding	-	7q36.1	zinc finger protein 862	-
ZNF865	chr19	55605405	55617269	+	ENSG00000261221.3	protein_coding	-	19q13.42	zinc finger protein 865	-
ZNF875	chr19	 37312837	37364455	+	ENSG00000181666	protein-coding	HKR1	19q13.12	zinc finger protein 875	Ubiquitous expression in prostate (RPKM 5.1), thyroid (RPKM 4.9) and 25 other tissues
ZNF876P	chr4	212610	255985	+	ENSG00000198155.5	transcribed_unprocessed_pseudogene	-	4p16.3	zinc finger protein 876, pseudogene	Broad expression in testis (RPKM 2.4), thyroid (RPKM 0.7) and 20 other tissues
ZNF878	chr19	12043805	12052939	-	ENSG00000257446.3	protein_coding	-	19p13.2	zinc finger protein 878	Low expression observed in reference dataset
ZNF879	chr5	179023752	179035064	+	ENSG00000234284.6	protein_coding	DKFZp686E2433	5q35.3	zinc finger protein 879	This gene encodes a kruppel-associated box-containing zinc finger protein (KRAB-ZFP). The encoded protein contains an N-terminal kruppel-associated box (KRAB) domain and thirteen C-terminal C2H2-type zinc finger domains. The KRAB-ZFPs represent the largest family of mammalian transcriptional repressors, which function through the recruitment of the nuclear co-factor KRAB-Associated Protein 1 (KAP1), to engage histone modifiers and induce heterochromatin formation. [provided by RefSeq, Jul 2017]
ZNF880	chr19	52369917	52385795	+	ENSG00000221923.8	protein_coding	-	19q13.41	zinc finger protein 880	-
ZNF891	chr12	133106817	133130473	-	ENSG00000214029.4	protein_coding	-	12q24.33	zinc finger protein 891	-
ZNF90	chr19	20077994	20127076	+	ENSG00000213988.10	protein_coding	HTF9	19p12	zinc finger protein 90	Ubiquitous expression in ovary (RPKM 9.1), lymph node (RPKM 5.0) and 25 other tissues
ZNF90P1	chr3	101357292	101359242	+	ENSG00000241738.1	processed_pseudogene	ZNF108|ZNF108P	3q12.3	zinc finger protein 90 pseudogene 1	-
ZNF90P2	chr6	28888832	28889906	-	ENSG00000233366.1	processed_pseudogene	ZNF463P|dJ111M5.3	6p22.1	zinc finger protein 90 pseudogene 2	-
ZNF91	chr19	23304991	23395560	-	ENSG00000167232.13	protein_coding	HPF7|HTF10	19p12	zinc finger protein 91	The ZNF91 gene encodes a zinc finger protein of the KRAB (Kruppel-associated box) subfamily (Bellefroid et al., 1991, 1993 [PubMed 2023909] [PubMed 8467795]).[supplied by OMIM, May 2010]
ZNF93	chr19	19900913	19935575	+	ENSG00000184635.14	protein_coding	HPF34|HTF34|TF34|ZNF505	19p12	zinc finger protein 93	Ubiquitous expression in thyroid (RPKM 2.7), urinary bladder (RPKM 1.7) and 25 other tissues
ZNF970P	chr12	37575587	37576384	+	ENSG00000258368.2	unprocessed_pseudogene	-	12q11	zinc finger protein 970, pseudogene	-
ZNF98	chr19	22391019	22532485	-	ENSG00000197360.9	protein_coding	F7175|ZNF739	19p12	zinc finger protein 98	Biased expression in testis (RPKM 2.3), kidney (RPKM 0.7) and 13 other tissues
ZNFX1	chr20	49237946	49278426	-	ENSG00000124201.14	protein_coding	-	20q13.13	zinc finger NFX1-type containing 1	-
ZNHIT1	chr7	101217668	101224190	+	ENSG00000106400.11	protein_coding	CG1I|ZNFN4A1	7q22.1	zinc finger HIT-type containing 1	Ubiquitous expression in liver (RPKM 23.5), kidney (RPKM 21.2) and 25 other tissues
ZNHIT2	chr11	65116403	65117708	-	ENSG00000174276.6	protein_coding	C11orf5|FON	11q13.1	zinc finger HIT-type containing 2	-
ZNHIT3	chr17	36486629	36499310	+	ENSG00000273611.4	protein_coding	Hit1|PEHO|TRIP3	17q12	zinc finger HIT-type containing 3	Ubiquitous expression in ovary (RPKM 10.5), testis (RPKM 10.1) and 25 other tissues
ZNHIT6	chr1	85649423	85708433	-	ENSG00000117174.10	protein_coding	BCD1|C1orf181|NY-BR-75	1p22.3	zinc finger HIT-type containing 6	Ubiquitous expression in lymph node (RPKM 2.7), endometrium (RPKM 2.7) and 25 other tissues
ZNRD1ASP	chr6	30001011	30061640	-	ENSG00000204623.9	transcribed_unitary_pseudogene	C6orf12|HCG8|HCGVIII|HCGVIII-1|HTEX4|NCRNA00171|TCTEX4|ZNRD1-AS|ZNRD1-AS1|ZNRD1AS|ZNRD1AS1	6p22.1	zinc ribbon domain containing 1 antisense, pseudogene	Broad expression in testis (RPKM 2.6), thyroid (RPKM 0.7) and 21 other tissues
ZNRD2	chr11	 65570477	65571888	+	ENSG00000173465	protein-coding	SSSCA1|p27	11q13.1	zinc ribbon domain containing 2	This antigen is recognized by a subset of anti-centromere antibodies from patients with scleroderma and/or Sjogrens syndrome. Subcellular localization has not yet been established. [provided by RefSeq, Jul 2008]
ZNRD2-DT	chr11	 65569220	65570413	-	-	ncRNA	SSSCA1-AS1|ZNRD2-AS1	11q13.1	ZNRD2 divergent transcript	-
ZNRF2P1	chr7	32728569	32729011	+	ENSG00000237004.3	processed_pseudogene	-	7p14.3	zinc and ring finger 2 pseudogene 1	-
ZNRF2P2	chr7	29598795	29685255	-	ENSG00000225264.3	transcribed_processed_pseudogene	-	7p14.3	zinc and ring finger 2 pseudogene 2	-
ZNRF3	chr22	28883592	29057487	+	ENSG00000183579.15	protein_coding	BK747E2.3|RNF203	22q12.1	zinc and ring finger 3	Ubiquitous expression in kidney (RPKM 4.8), brain (RPKM 4.7) and 24 other tissues
ZNRF3-AS1	chr22	29024999	29031476	-	ENSG00000177993.3	antisense	-	22q12.1	ZNRF3 antisense RNA 1	-
ZP1	chr11	60867562	60875693	+	ENSG00000149506.11	protein_coding	HEL163|OOMD|OOMD1	11q12.2	zona pellucida glycoprotein 1	The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene ensures the structural integrity of the zona pellucida. Mutations in this gene are a cause of oocyte maturation defect and infertility. [provided by RefSeq, May 2014]
ZP3	chr7	76397518	76442071	+	ENSG00000188372.14	protein_coding	OOMD3|ZP3A|ZP3B|ZPC|Zp-3	7q11.23	zona pellucida glycoprotein 3	The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene is a structural component of the zona pellucida and functions in primary binding and induction of the sperm acrosome reaction. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a C-terminal consensus furin cleavage site, and a transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. A variation in the last exon of this gene has previously served as the basis for an additional ZP3 locus; however, sequence and literature review reveals that there is only one full-length ZP3 locus in the human genome. Another locus encoding a bipartite transcript designated POMZP3 contains a duplication of the last four exons of ZP3, including the above described variation, and maps closely to this gene. [provided by RefSeq, Jul 2008]
ZPBP2	chr17	39868164	39877896	+	ENSG00000186075.12	protein_coding	ZPBPL	17q21.1	zona pellucida binding protein 2	Restricted expression toward testis (RPKM 54.6)
ZPR1	chr11	116773799	116788050	-	ENSG00000109917.10	protein_coding	GKAF|ZNF259	11q23.3	ZPR1 zinc finger	The protein encoded by this gene is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre-mRNA splicing and to induce neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
ZPR1P1	chr6	 108785327	108787059	-	-	pseudogene	354J5|ZNF259P|ZNF259P1	6q21	ZPR1 pseudogene 1	-
ZRANB1	chr10	124942123	124988189	+	ENSG00000019995.6	protein_coding	TRABID	10q26.13	zinc finger RANBP2-type containing 1	Ubiquitous expression in adrenal (RPKM 10.7), testis (RPKM 10.1) and 25 other tissues
ZRANB2	chr1	71063291	71081297	-	ENSG00000132485.13	protein_coding	ZIS|ZIS1|ZIS2|ZNF265	1p31.1	zinc finger RANBP2-type containing 2	Ubiquitous expression in endometrium (RPKM 47.3), lymph node (RPKM 37.7) and 25 other tissues
ZRANB2-AS1	chr1	71048855	71067184	+	ENSG00000235079.1	antisense	-	1p31.1	ZRANB2 antisense RNA 1	-
ZRANB3	chr2	135136916	135531236	-	ENSG00000121988.17	protein_coding	4933425L19Rik|AH2	2q21.3	zinc finger RANBP2-type containing 3	Broad expression in testis (RPKM 1.8), thyroid (RPKM 0.8) and 24 other tissues
ZRSR2	chrX	15790472	15823260	+	ENSG00000169249.12	protein_coding	U2AF1-RS2|U2AF1L2|U2AF1RS2|URP|ZC3H22	Xp22.2	zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2	This gene encodes an essential splicing factor. The encoded protein associates with the U2 auxiliary factor heterodimer, which is required for the recognition of a functional 3 splice site in pre-mRNA splicing, and may play a role in network interactions during spliceosome assembly. [provided by RefSeq, Jul 2008]
ZRSR2P1	chr5	 112891628	112893097	+	ENSG00000212643	pseudogene	U2AF1-RS1|U2AF1L1|U2AF1P|U2AF1RS1|U2AFBPL|ZC3H21|ZRSR1	5q22.2	ZRSR2 pseudogene 1	Predicted to enable pre-mRNA 3-splice site binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be part of U2AF complex and spliceosomal complex. [provided by Alliance of Genome Resources, Apr 2022]
ZSCAN12	chr6	28378955	28399734	-	ENSG00000158691.14	protein_coding	ZFP96|ZNF29K1|ZNF305|ZNF96|dJ29K1.2	6p22.1	zinc finger and SCAN domain containing 12	Ubiquitous expression in thyroid (RPKM 1.8), ovary (RPKM 1.5) and 25 other tissues
ZSCAN12P1	chr6	28091154	28093664	+	ENSG00000219891.2	transcribed_unprocessed_pseudogene	ZNF187p1|ZNF305P1|ZNF96L1|ZNF96P1|ZSCAN12L1|dJ313I6.7	6p22.1	zinc finger and SCAN domain containing 12 pseudogene 1	-
ZSCAN16	chr6	28124560	28130082	+	ENSG00000196812.4	protein_coding	ZNF392|ZNF435|dJ265C24.3	6p22.1	zinc finger and SCAN domain containing 16	Ubiquitous expression in duodenum (RPKM 2.1), small intestine (RPKM 2.0) and 25 other tissues
ZSCAN16-AS1	chr6	28121795	28137293	-	ENSG00000269293.2	antisense	-	6p22.1	ZSCAN16 antisense RNA 1	-
ZSCAN18	chr19	58083838	58118427	-	ENSG00000121413.12	protein_coding	ZNF447	19q13.43	zinc finger and SCAN domain containing 18	Ubiquitous expression in brain (RPKM 14.7), endometrium (RPKM 11.3) and 25 other tissues
ZSCAN2	chr15	84600986	84627796	+	ENSG00000176371.13	protein_coding	ZFP29|ZNF854	15q25.2	zinc finger and SCAN domain containing 2	The protein encoded by this gene contains several copies of zinc finger motif, which is commonly found in transcriptional regulatory proteins. Studies in mice show that this gene is expressed during embryonic development, and specifically in the testis in adult mice, suggesting that it may play a role in regulating genes in germ cells. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
ZSCAN21	chr7	100049774	100065038	+	ENSG00000166529.14	protein_coding	NY-REN-21|ZNF38|Zipro1	7q22.1	zinc finger and SCAN domain containing 21	Ubiquitous expression in testis (RPKM 4.9), endometrium (RPKM 3.1) and 25 other tissues
ZSCAN22	chr19	58327019	58342332	+	ENSG00000182318.5	protein_coding	HKR2|ZNF50	19q13.43	zinc finger and SCAN domain containing 22	Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
ZSCAN23	chr6	28431930	28443502	-	ENSG00000187987.9	protein_coding	ZNF390|ZNF453|dJ29K1.3|dJ29K1.3.1	6p22.1	zinc finger and SCAN domain containing 23	Low expression observed in reference dataset
ZSCAN25	chr7	99616946	99632407	+	ENSG00000197037.10	protein_coding	ZNF498	7q22.1	zinc finger and SCAN domain containing 25	This gene encodes a protein that bears some similarity to zinc finger proteins, which are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants have been identified, but the full-length nature for most of them has not been determined. [provided by RefSeq, Jul 2008]
ZSCAN26	chr6	28267010	28278224	+	ENSG00000197062.11	protein_coding	SRE-ZBP|SREZBP|ZNF187	6p22.1	zinc finger and SCAN domain containing 26	Ubiquitous expression in ovary (RPKM 10.1), endometrium (RPKM 7.8) and 25 other tissues
ZSCAN29	chr15	43358172	43371025	-	ENSG00000140265.12	protein_coding	ZNF690|Zfp690	15q15.3	zinc finger and SCAN domain containing 29	Ubiquitous expression in testis (RPKM 6.9), lymph node (RPKM 3.9) and 25 other tissues
ZSCAN30	chr18	35251058	35290245	-	ENSG00000186814.13	protein_coding	ZNF-WYM|ZNF397OS|ZNF917	18q12.2	zinc finger and SCAN domain containing 30	Ubiquitous expression in thyroid (RPKM 6.9), brain (RPKM 6.2) and 25 other tissues
ZSCAN31	chr6	28324693	28356271	-	ENSG00000235109.7	protein_coding	ZNF20-Lp|ZNF310P|ZNF323	6p22.1|6p22.3-p22.1	zinc finger and SCAN domain containing 31	This gene encodes a protein containing multiple C2H2-type zinc finger motifs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
ZSCAN32	chr16	3382081	3401065	-	ENSG00000140987.19	protein_coding	HCCS-5|ZNF434	16p13.3	zinc finger and SCAN domain containing 32	Ubiquitous expression in testis (RPKM 4.7), lymph node (RPKM 4.2) and 25 other tissues
ZSCAN9	chr6	28224886	28233482	+	ENSG00000137185.11	protein_coding	PRD51|ZNF193	6p22.1	zinc finger and SCAN domain containing 9	Ubiquitous expression in testis (RPKM 5.8), endometrium (RPKM 3.5) and 25 other tissues
ZSWIM1	chr20	45881227	45885266	+	ENSG00000168612.4	protein_coding	C20orf162	20q13.12	zinc finger SWIM-type containing 1	Ubiquitous expression in ovary (RPKM 3.0), testis (RPKM 2.7) and 25 other tissues
ZSWIM3	chr20	45857617	45879122	+	ENSG00000132801.6	protein_coding	C20orf164|PPP1R174	20q13.12	zinc finger SWIM-type containing 3	Predicted to enable zinc ion binding activity. [provided by Alliance of Genome Resources, Apr 2022]
ZSWIM4	chr19	13795460	13832230	+	ENSG00000132003.9	protein_coding	-	19p13.13-p13.12	zinc finger SWIM-type containing 4	-
ZSWIM5	chr1	45016399	45306209	-	ENSG00000162415.6	protein_coding	-	1p34.1	zinc finger SWIM-type containing 5	-
ZSWIM6	chr5	61332273	61546170	+	ENSG00000130449.5	protein_coding	AFND|NEDMAGA	5q12.1	zinc finger SWIM-type containing 6	The protein encoded by this gene contains a zinc finger SWI2/SNF2 and MuDR (SWIM) domain. Proteins with SWIM domains have been found in a diverse number of species and are predicted to interact with DNA or proteins. Mutations in this gene result in acromelic frontonasal dysostosis. [provided by RefSeq, Apr 2017]
ZSWIM7	chr17	15976560	15999717	-	ENSG00000214941.7	protein_coding	SWS1	17p12	zinc finger SWIM-type containing 7	Ubiquitous expression in kidney (RPKM 6.2), adrenal (RPKM 6.1) and 25 other tissues
ZSWIM8	chr10	73785582	73801797	+	ENSG00000214655.10	protein_coding	KIAA0913	10q22.2	zinc finger SWIM-type containing 8	Ubiquitous expression in testis (RPKM 21.6), spleen (RPKM 16.0) and 25 other tissues
ZSWIM8-AS1	chr10	73796514	73801399	-	ENSG00000272589.1	antisense	-	10q22.2	ZSWIM8 antisense RNA 1	-
ZUP1	chr6	 116635618	116668766	-	ENSG00000153975	protein-coding	C6orf113|DUB|ZUFSP	6q22.1	zinc finger containing ubiquitin peptidase 1	This gene encodes a protein containing zinc finger motifs and a cysteine peptidase domain. The encoded protein functions as a K63-specific de-ubiquitinating enzyme that specifically cleaves long K63-linked polyubiquitin chains in the middle of a chain (i.e. endo cleavage) rather than by removing the terminal ubiquitin from a chain. This enzyme is thought to be involved in the regulation of DNA repair by cleaving K63-linked ubiquitin chains at repair foci. This protein is related to proteases for the ubiquitin-like modifiers Ufm1 (ubiquitin fold modifier 1) and Atg8/Gabarapl2, but does not have any activity on these modifiers. [provided by RefSeq, Mar 2018]
ZW10	chr11	113733187	113773811	-	ENSG00000086827.8	protein_coding	HZW10|KNTC1AP	11q23.2	zw10 kinetochore protein	This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. This protein is an essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. [provided by RefSeq, Aug 2011]
ZWILCH	chr15	66504959	66550128	+	ENSG00000174442.11	protein_coding	KNTC1AP|hZwilch	15q22.31	zwilch kinetochore protein	Broad expression in testis (RPKM 32.5), lymph node (RPKM 6.0) and 19 other tissues
ZWINT	chr10	56357228	56361275	-	ENSG00000122952.16	protein_coding	HZwint-1|KNTC2AP|SIP30|ZWINT1	10q21.1	ZW10 interacting kinetochore protein	This gene encodes a protein that is clearly involved in kinetochore function although an exact role is not known. It interacts with ZW10, another kinetochore protein, possibly regulating the association between ZW10 and kinetochores. The encoded protein localizes to prophase kinetochores before ZW10 does and it remains detectable on the kinetochore until late anaphase. It has a uniform distribution in the cytoplasm of interphase cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
ZXDC	chr3	126437601	126475919	-	ENSG00000070476.14	protein_coding	ZXDL	3q21.3	ZXD family zinc finger C	Ubiquitous expression in bone marrow (RPKM 13.7), spleen (RPKM 5.6) and 25 other tissues
ZYG11A	chr1	52842511	52894998	+	ENSG00000203995.9	protein_coding	ZYG11	1p32.3	zyg-11 family member A, cell cycle regulator	Biased expression in testis (RPKM 2.3), thyroid (RPKM 1.5) and 6 other tissues
ZYG11B	chr1	52726467	52827342	+	ENSG00000162378.12	protein_coding	ZYG11	1p32.3	zyg-11 family member B, cell cycle regulator	Ubiquitous expression in brain (RPKM 12.1), thyroid (RPKM 8.7) and 25 other tissues
ZYX	chr7	143381080	143391111	+	ENSG00000159840.15	protein_coding	ESP-2|HED-2	7q34	zyxin	Focal adhesions are actin-rich structures that enable cells to adhere to the extracellular matrix and at which protein complexes involved in signal transduction assemble. Zyxin is a zinc-binding phosphoprotein that concentrates at focal adhesions and along the actin cytoskeleton. Zyxin has an N-terminal proline-rich domain and three LIM domains in its C-terminal half. The proline-rich domain may interact with SH3 domains of proteins involved in signal transduction pathways while the LIM domains are likely involved in protein-protein binding. Zyxin may function as a messenger in the signal transduction pathway that mediates adhesion-stimulated changes in gene expression and may modulate the cytoskeletal organization of actin bundles. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq, Jul 2008]
ZZEF1	chr17	4004445	4143020	-	ENSG00000074755.14	protein_coding	ZZZ4	17p13.2	zinc finger ZZ-type and EF-hand domain containing 1	Ubiquitous expression in small intestine (RPKM 12.0), colon (RPKM 10.1) and 25 other tissues
ZZZ3	chr1	77562416	77683419	-	ENSG00000036549.12	protein_coding	ATAC1	1p31.1	zinc finger ZZ-type containing 3	Ubiquitous expression in thyroid (RPKM 9.6), ovary (RPKM 6.7) and 25 other tissues
